#Format: entrez-gene-id<tab>entrez-gene-symbol<tab>HPO-Term-Name<tab>HPO-Term-ID<tab>Frequency-Raw<tab>Frequency-HPO<tab>Additional Info from G-D source<tab>G-D source<tab>disease-ID for link
8192	CLPP	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:614129
8192	CLPP	HP:0000013	Hypoplasia of the uterus			-	mim2gene	OMIM:614129
8192	CLPP	HP:0000815	Hypergonadotropic hypogonadism			-	mim2gene	OMIM:614129
8192	CLPP	HP:0008527	Congenital sensorineural hearing impairment			-	mim2gene	OMIM:614129
8192	CLPP	HP:0000786	Primary amenorrhea			-	mim2gene	OMIM:614129
8192	CLPP	HP:0000252	Microcephaly		HP:0040283	-	mim2gene	OMIM:614129
8192	CLPP	HP:0001250	Seizures		HP:0040283	-	mim2gene	OMIM:614129
8192	CLPP	HP:0004322	Short stature		HP:0040283	-	mim2gene	OMIM:614129
2	A2M	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:614036
2	A2M	HP:0001425	Heterogeneous			susceptibility	mim2gene	OMIM:104300
2	A2M	HP:0410054	Decreased level of GABA in serum			susceptibility	mim2gene	OMIM:104300
2	A2M	HP:0000726	Dementia			susceptibility	mim2gene	OMIM:104300
2	A2M	HP:0001300	Parkinsonism			susceptibility	mim2gene	OMIM:104300
2	A2M	HP:0002185	Neurofibrillary tangles			susceptibility	mim2gene	OMIM:104300
2	A2M	HP:0002423	Long-tract signs			susceptibility	mim2gene	OMIM:104300
2	A2M	HP:0002511	Alzheimer disease			susceptibility	mim2gene	OMIM:104300
2	A2M	HP:0000006	Autosomal dominant inheritance			susceptibility	mim2gene	OMIM:104300
7157	TP53	HP:0001428	Somatic mutation			-	mim2gene	OMIM:114480
7157	TP53	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:114480
7157	TP53	HP:0001425	Heterogeneous			-	mim2gene	OMIM:114480
7157	TP53	HP:0003002	Breast carcinoma			-	mim2gene	OMIM:114480
7157	TP53	HP:0200022	Choroid plexus papilloma	null			orphadata	ORPHA:2807
7157	TP53	HP:0000238	Hydrocephalus	null			orphadata	ORPHA:2807
7157	TP53	HP:0100543	Cognitive impairment	null			orphadata	ORPHA:2807
7157	TP53	HP:0001250	Seizure	null			orphadata	ORPHA:2807
7157	TP53	HP:0000505	Visual impairment	null			orphadata	ORPHA:2807
7157	TP53	HP:0001276	Hypertonia	null			orphadata	ORPHA:2807
7157	TP53	HP:0004374	Hemiplegia/hemiparesis	null			orphadata	ORPHA:2807
7157	TP53	HP:0005513	Increased megakaryocyte count	null			orphadata	ORPHA:3318
7157	TP53	HP:0003401	Paresthesia	null			orphadata	ORPHA:3318
7157	TP53	HP:0001658	Myocardial infarction	null			orphadata	ORPHA:3318
7157	TP53	HP:0002488	Acute leukemia	null			orphadata	ORPHA:3318
7157	TP53	HP:0002863	Myelodysplasia	null			orphadata	ORPHA:3318
7157	TP53	HP:0011875	Abnormal platelet morphology	null			orphadata	ORPHA:3318
7157	TP53	HP:0004420	Arterial thrombosis	null			orphadata	ORPHA:3318
7157	TP53	HP:0100749	Chest pain	null			orphadata	ORPHA:3318
7157	TP53	HP:0003010	Prolonged bleeding time	null			orphadata	ORPHA:3318
7157	TP53	HP:0011974	Myelofibrosis	null			orphadata	ORPHA:3318
7157	TP53	HP:0001744	Splenomegaly	null			orphadata	ORPHA:3318
7157	TP53	HP:0100576	Amaurosis fugax	null			orphadata	ORPHA:3318
7157	TP53	HP:0002326	Transient ischemic attack	null			orphadata	ORPHA:3318
7157	TP53	HP:0004936	Venous thrombosis	null			orphadata	ORPHA:3318
7157	TP53	HP:0000252	Microcephaly			-	mim2gene	OMIM:618165
7157	TP53	HP:0000029	Testicular atrophy			-	mim2gene	OMIM:618165
7157	TP53	HP:0000135	Hypogonadism			-	mim2gene	OMIM:618165
7157	TP53	HP:0001903	Anemia			-	mim2gene	OMIM:618165
7157	TP53	HP:0002750	Delayed skeletal maturation			-	mim2gene	OMIM:618165
7157	TP53	HP:0004313	Decreased circulating antibody level			-	mim2gene	OMIM:618165
7157	TP53	HP:0001250	Seizure			-	mim2gene	OMIM:618165
7157	TP53	HP:0001263	Global developmental delay			-	mim2gene	OMIM:618165
7157	TP53	HP:0004322	Short stature			-	mim2gene	OMIM:618165
7157	TP53	HP:0012410	Pure red cell aplasia			-	mim2gene	OMIM:618165
7157	TP53	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:618165
7157	TP53	HP:0002910	Elevated hepatic transaminase	null			orphadata	ORPHA:1333
7157	TP53	HP:0003002	Breast carcinoma	null			orphadata	ORPHA:1333
7157	TP53	HP:0001824	Weight loss	null			orphadata	ORPHA:1333
7157	TP53	HP:0002861	Melanoma	null			orphadata	ORPHA:1333
7157	TP53	HP:0004396	Poor appetite	null			orphadata	ORPHA:1333
7157	TP53	HP:0025318	Ovarian carcinoma	null			orphadata	ORPHA:1333
7157	TP53	HP:0003003	Colon cancer	null			orphadata	ORPHA:1333
7157	TP53	HP:0002017	Nausea and vomiting	null			orphadata	ORPHA:1333
7157	TP53	HP:0003418	Back pain	null			orphadata	ORPHA:1333
7157	TP53	HP:0001433	Hepatosplenomegaly	null			orphadata	ORPHA:1333
7157	TP53	HP:0005249	Functional intestinal obstruction	null			orphadata	ORPHA:1333
7157	TP53	HP:0100592	Peritoneal abscess	null			orphadata	ORPHA:1333
7157	TP53	HP:0000819	Diabetes mellitus	null			orphadata	ORPHA:1333
7157	TP53	HP:0001738	Exocrine pancreatic insufficiency	null			orphadata	ORPHA:1333
7157	TP53	HP:0006725	Pancreatic adenocarcinoma	null			orphadata	ORPHA:1333
7157	TP53	HP:0002039	Anorexia	null			orphadata	ORPHA:1333
7157	TP53	HP:0002254	Intermittent diarrhea	null			orphadata	ORPHA:1333
7157	TP53	HP:0012334	Extrahepatic cholestasis	null			orphadata	ORPHA:1333
7157	TP53	HP:0002896	Neoplasm of the liver	null			orphadata	ORPHA:1333
7157	TP53	HP:0004389	Intestinal pseudo-obstruction	null			orphadata	ORPHA:1333
7157	TP53	HP:0002027	Abdominal pain	null			orphadata	ORPHA:1333
7157	TP53	HP:0002716	Lymphadenopathy	null			orphadata	ORPHA:1333
7157	TP53	HP:0000952	Jaundice	null			orphadata	ORPHA:1333
7157	TP53	HP:0012432	Chronic fatigue	null			orphadata	ORPHA:1333
7157	TP53	HP:0001402	Hepatocellular carcinoma			-	mim2gene	OMIM:114550
7157	TP53	HP:0001413	Micronodular cirrhosis			-	mim2gene	OMIM:114550
7157	TP53	HP:0001428	Somatic mutation			-	mim2gene	OMIM:114550
7157	TP53	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:114550
7157	TP53	HP:0006572	Subacute progressive viral hepatitis			-	mim2gene	OMIM:114550
7157	TP53	HP:0001425	Heterogeneous			-	mim2gene	OMIM:114550
7157	TP53	HP:0030406	Primary peritoneal carcinoma	null			orphadata	ORPHA:145
7157	TP53	HP:0002861	Melanoma	null			orphadata	ORPHA:145
7157	TP53	HP:0002894	Neoplasm of the pancreas	null			orphadata	ORPHA:145
7157	TP53	HP:0012125	Prostate cancer	null			orphadata	ORPHA:145
7157	TP53	HP:0003002	Breast carcinoma	null			orphadata	ORPHA:145
7157	TP53	HP:0100615	Ovarian neoplasm	null			orphadata	ORPHA:145
7157	TP53	HP:0011027	Abnormal fallopian tube morphology	null			orphadata	ORPHA:145
7157	TP53	HP:0000006	Autosomal dominant inheritance			susceptibility	mim2gene	OMIM:614740
7157	TP53	HP:0001428	Somatic mutation			-	mim2gene	OMIM:260350
7157	TP53	HP:0410067	Increased level of L-fucose in urine			-	mim2gene	OMIM:260350
7157	TP53	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:260350
7157	TP53	HP:0002894	Neoplasm of the pancreas			-	mim2gene	OMIM:260350
7157	TP53	HP:0030448	Soft tissue sarcoma			-	mim2gene	OMIM:151623
7157	TP53	HP:0100768	Choriocarcinoma			-	mim2gene	OMIM:151623
7157	TP53	HP:0002667	Nephroblastoma			-	mim2gene	OMIM:151623
7157	TP53	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:151623
7157	TP53	HP:0012125	Prostate cancer			-	mim2gene	OMIM:151623
7157	TP53	HP:0003003	Colon cancer			-	mim2gene	OMIM:151623
7157	TP53	HP:0030078	Lung adenocarcinoma			-	mim2gene	OMIM:151623
7157	TP53	HP:0002488	Acute leukemia			-	mim2gene	OMIM:151623
7157	TP53	HP:0006744	Adrenocortical carcinoma			-	mim2gene	OMIM:151623
7157	TP53	HP:0002894	Neoplasm of the pancreas			-	mim2gene	OMIM:151623
7157	TP53	HP:0002669	Osteosarcoma			-	mim2gene	OMIM:151623
7157	TP53	HP:0003002	Breast carcinoma			-	mim2gene	OMIM:151623
7157	TP53	HP:0000006	Autosomal dominant inheritance			susceptibility	mim2gene	OMIM:202300
7157	TP53	HP:0006744	Adrenocortical carcinoma			susceptibility	mim2gene	OMIM:202300
7157	TP53	HP:0000007	Autosomal recessive inheritance			susceptibility	mim2gene	OMIM:202300
7157	TP53	HP:0008069	Neoplasm of the skin	null			orphadata	ORPHA:524
7157	TP53	HP:0100273	Neoplasm of the colon	null			orphadata	ORPHA:524
7157	TP53	HP:0002669	Osteosarcoma	null			orphadata	ORPHA:524
7157	TP53	HP:0002861	Melanoma	null			orphadata	ORPHA:524
7157	TP53	HP:0003002	Breast carcinoma	null			orphadata	ORPHA:524
7157	TP53	HP:0002665	Lymphoma	null			orphadata	ORPHA:524
7157	TP53	HP:0004375	Neoplasm of the nervous system	null			orphadata	ORPHA:524
7157	TP53	HP:0002448	Progressive encephalopathy	null			orphadata	ORPHA:524
7157	TP53	HP:0002894	Neoplasm of the pancreas	null			orphadata	ORPHA:524
7157	TP53	HP:0100641	Neoplasm of the adrenal cortex	null			orphadata	ORPHA:524
7157	TP53	HP:0001428	Somatic mutation			susceptibility	mim2gene	OMIM:137800
7157	TP53	HP:0002888	Ependymoma			susceptibility	mim2gene	OMIM:137800
7157	TP53	HP:0009592	Astrocytoma			susceptibility	mim2gene	OMIM:137800
7157	TP53	HP:0012174	Glioblastoma multiforme			susceptibility	mim2gene	OMIM:137800
7157	TP53	HP:0000006	Autosomal dominant inheritance			susceptibility	mim2gene	OMIM:137800
7157	TP53	HP:0001962	Palpitations	null			orphadata	ORPHA:1501
7157	TP53	HP:0000822	Hypertension	null			orphadata	ORPHA:1501
7157	TP53	HP:0500022	Abnormal serum dehydroepiandrosterone level	null			orphadata	ORPHA:1501
7157	TP53	HP:0025436	Elevated serum 11-deoxycortisol	null			orphadata	ORPHA:1501
7157	TP53	HP:0000080	Abnormality of reproductive system physiology	null			orphadata	ORPHA:1501
7157	TP53	HP:0001824	Weight loss	null			orphadata	ORPHA:1501
7157	TP53	HP:0012030	Increased urinary cortisol level	null			orphadata	ORPHA:1501
7157	TP53	HP:0000737	Irritability	null			orphadata	ORPHA:1501
7157	TP53	HP:0000819	Diabetes mellitus	null			orphadata	ORPHA:1501
7157	TP53	HP:0000859	Hyperaldosteronism	null			orphadata	ORPHA:1501
7157	TP53	HP:0002900	Hypokalemia	null			orphadata	ORPHA:1501
7157	TP53	HP:0011748	Adrenocorticotropic hormone deficiency	null			orphadata	ORPHA:1501
7157	TP53	HP:0003110	Abnormality of urine homeostasis	null			orphadata	ORPHA:1501
7157	TP53	HP:0000975	Hyperhidrosis	null			orphadata	ORPHA:1501
7157	TP53	HP:0030078	Lung adenocarcinoma	null			orphadata	ORPHA:1501
7157	TP53	HP:0001065	Striae distensae	null			orphadata	ORPHA:1501
7157	TP53	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	null			orphadata	ORPHA:1501
7157	TP53	HP:0000998	Hypertrichosis	null			orphadata	ORPHA:1501
7157	TP53	HP:0000739	Anxiety	null			orphadata	ORPHA:1501
7157	TP53	HP:0025134	Increased serum estradiol	null			orphadata	ORPHA:1501
7157	TP53	HP:0001324	Muscle weakness	null			orphadata	ORPHA:1501
7157	TP53	HP:0004324	Increased body weight	null			orphadata	ORPHA:1501
7157	TP53	HP:0002027	Abdominal pain	null			orphadata	ORPHA:1501
7157	TP53	HP:0006744	Adrenocortical carcinoma	null			orphadata	ORPHA:1501
7157	TP53	HP:0025380	Increased serum androstenedione	null			orphadata	ORPHA:1501
7157	TP53	HP:0025269	Panic attack	null			orphadata	ORPHA:1501
7157	TP53	HP:0000007	Autosomal recessive inheritance			susceptibility	mim2gene	OMIM:259500
7157	TP53	HP:0002669	Osteosarcoma			susceptibility	mim2gene	OMIM:259500
7157	TP53	HP:0009919	Retinoblastoma			susceptibility	mim2gene	OMIM:259500
7157	TP53	HP:0001428	Somatic mutation			susceptibility	mim2gene	OMIM:259500
7157	TP53	HP:0001939	Abnormality of metabolism/homeostasis			susceptibility	mim2gene	OMIM:259500
7157	TP53	HP:0001824	Weight loss	null			orphadata	ORPHA:668
7157	TP53	HP:0002756	Pathologic fracture	null			orphadata	ORPHA:668
7157	TP53	HP:0006491	Abnormality of the tibial metaphysis	null			orphadata	ORPHA:668
7157	TP53	HP:0001386	Joint swelling	null			orphadata	ORPHA:668
7157	TP53	HP:0001945	Fever	null			orphadata	ORPHA:668
7157	TP53	HP:0002797	Osteolysis	null			orphadata	ORPHA:668
7157	TP53	HP:0006489	Abnormality of the femoral metaphysis	null			orphadata	ORPHA:668
7157	TP53	HP:0003155	Elevated alkaline phosphatase	null			orphadata	ORPHA:668
7157	TP53	HP:0012531	Pain	null			orphadata	ORPHA:668
7157	TP53	HP:0025435	Increased lactate dehydrogenase level	null			orphadata	ORPHA:668
7157	TP53	HP:0001824	Weight loss	null			orphadata	ORPHA:668
7157	TP53	HP:0002756	Pathologic fracture	null			orphadata	ORPHA:668
7157	TP53	HP:0006491	Abnormality of the tibial metaphysis	null			orphadata	ORPHA:668
7157	TP53	HP:0001386	Joint swelling	null			orphadata	ORPHA:668
7157	TP53	HP:0001945	Fever	null			orphadata	ORPHA:668
7157	TP53	HP:0002797	Osteolysis	null			orphadata	ORPHA:668
7157	TP53	HP:0006489	Abnormality of the femoral metaphysis	null			orphadata	ORPHA:668
7157	TP53	HP:0003155	Elevated alkaline phosphatase	null			orphadata	ORPHA:668
7157	TP53	HP:0012531	Pain	null			orphadata	ORPHA:668
7157	TP53	HP:0025435	Increased lactate dehydrogenase level	null			orphadata	ORPHA:668
7157	TP53	HP:0100630	Neoplasia of the nasopharynx			-	mim2gene	OMIM:607107
7157	TP53	HP:0010982	Polygenic inheritance			-	mim2gene	OMIM:607107
7157	TP53	HP:0001085	Papilledema			susceptibility	mim2gene	OMIM:260500
7157	TP53	HP:0001250	Seizure			susceptibility	mim2gene	OMIM:260500
7157	TP53	HP:0002013	Vomiting			susceptibility	mim2gene	OMIM:260500
7157	TP53	HP:0002315	Headache			susceptibility	mim2gene	OMIM:260500
7157	TP53	HP:0000006	Autosomal dominant inheritance			susceptibility	mim2gene	OMIM:260500
7157	TP53	HP:0000238	Hydrocephalus			susceptibility	mim2gene	OMIM:260500
7157	TP53	HP:0200022	Choroid plexus papilloma			susceptibility	mim2gene	OMIM:260500
7157	TP53	HP:0000007	Autosomal recessive inheritance			susceptibility	mim2gene	OMIM:260500
7157	TP53	HP:0002018	Nausea			susceptibility	mim2gene	OMIM:260500
8195	MKKS	HP:0012227	Urethral stricture		HP:0040283		orphadata	ORPHA:2473
8195	MKKS	HP:0001156	Brachydactyly		HP:0040283		orphadata	ORPHA:2473
8195	MKKS	HP:0001263	Global developmental delay		HP:0040283		orphadata	ORPHA:2473
8195	MKKS	HP:0004322	Short stature		HP:0040283		orphadata	ORPHA:2473
8195	MKKS	HP:0100779	Urogenital sinus anomaly		HP:0040282		orphadata	ORPHA:2473
8195	MKKS	HP:0006101	Finger syndactyly		HP:0040283		orphadata	ORPHA:2473
8195	MKKS	HP:0002023	Anal atresia		HP:0040283		orphadata	ORPHA:2473
8195	MKKS	HP:0001631	Atrial septal defect		HP:0040283		orphadata	ORPHA:2473
8195	MKKS	HP:0000126	Hydronephrosis		HP:0040282		orphadata	ORPHA:2473
8195	MKKS	HP:0001636	Tetralogy of Fallot		HP:0040283		orphadata	ORPHA:2473
8195	MKKS	HP:0000175	Cleft palate		HP:0040283		orphadata	ORPHA:2473
8195	MKKS	HP:0004383	Hypoplastic left heart		HP:0040283		orphadata	ORPHA:2473
8195	MKKS	HP:0000218	High palate		HP:0040283		orphadata	ORPHA:2473
8195	MKKS	HP:0002251	Aganglionic megacolon		HP:0040283		orphadata	ORPHA:2473
8195	MKKS	HP:0004397	Ectopic anus		HP:0040283		orphadata	ORPHA:2473
8195	MKKS	HP:0008368	Tarsal synostosis		HP:0040283		orphadata	ORPHA:2473
8195	MKKS	HP:0000807	Glandular hypospadias		HP:0040282		orphadata	ORPHA:2473
8195	MKKS	HP:0001163	Abnormality of the metacarpal bones		HP:0040283		orphadata	ORPHA:2473
8195	MKKS	HP:0001643	Patent ductus arteriosus		HP:0040283		orphadata	ORPHA:2473
8195	MKKS	HP:0001162	Postaxial hand polydactyly		HP:0040282		orphadata	ORPHA:2473
8195	MKKS	HP:0000003	Multicystic kidney dysplasia		HP:0040283		orphadata	ORPHA:2473
8195	MKKS	HP:0030010	Hydrometrocolpos		HP:0040281		orphadata	ORPHA:2473
8195	MKKS	HP:0001629	Ventricular septal defect		HP:0040283		orphadata	ORPHA:2473
8195	MKKS	HP:0001249	Intellectual disability		HP:0040283		orphadata	ORPHA:2473
8195	MKKS	HP:0001830	Postaxial foot polydactyly		HP:0040283		orphadata	ORPHA:2473
8195	MKKS	HP:0001508	Failure to thrive		HP:0040283		orphadata	ORPHA:2473
8195	MKKS	HP:0000028	Cryptorchidism		HP:0040282		orphadata	ORPHA:2473
8195	MKKS	HP:0008678	Renal hypoplasia/aplasia		HP:0040284		orphadata	ORPHA:2473
8195	MKKS	HP:0006159	Mesoaxial hand polydactyly			-	mim2gene	OMIM:236700
8195	MKKS	HP:0000113	Polycystic kidney dysplasia			-	mim2gene	OMIM:236700
8195	MKKS	HP:0001159	Syndactyly			-	mim2gene	OMIM:236700
8195	MKKS	HP:0000145	Transverse vaginal septum			-	mim2gene	OMIM:236700
8195	MKKS	HP:0001586	Vesicovaginal fistula			-	mim2gene	OMIM:236700
8195	MKKS	HP:0002023	Anal atresia			-	mim2gene	OMIM:236700
8195	MKKS	HP:0001374	Congenital hip dislocation			-	mim2gene	OMIM:236700
8195	MKKS	HP:0002251	Aganglionic megacolon			-	mim2gene	OMIM:236700
8195	MKKS	HP:0010741	Pedal edema			-	mim2gene	OMIM:236700
8195	MKKS	HP:0000126	Hydronephrosis			-	mim2gene	OMIM:236700
8195	MKKS	HP:0000028	Cryptorchidism			-	mim2gene	OMIM:236700
8195	MKKS	HP:0000072	Hydroureter			-	mim2gene	OMIM:236700
8195	MKKS	HP:0001162	Postaxial hand polydactyly			-	mim2gene	OMIM:236700
8195	MKKS	HP:0030680	Abnormality of cardiovascular system morphology			-	mim2gene	OMIM:236700
8195	MKKS	HP:0000148	Vaginal atresia			-	mim2gene	OMIM:236700
8195	MKKS	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:236700
8195	MKKS	HP:0000143	Rectovaginal fistula			-	mim2gene	OMIM:236700
8195	MKKS	HP:0002089	Pulmonary hypoplasia			-	mim2gene	OMIM:236700
8195	MKKS	HP:0000969	Edema			-	mim2gene	OMIM:236700
8195	MKKS	HP:0030010	Hydrometrocolpos			-	mim2gene	OMIM:236700
8195	MKKS	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:605231
8195	MKKS	HP:0001249	Intellectual disability			-	mim2gene	OMIM:605231
8195	MKKS	HP:0000047	Hypospadias			-	mim2gene	OMIM:605231
8195	MKKS	HP:0000510	Rod-cone dystrophy			-	mim2gene	OMIM:605231
8195	MKKS	HP:0001513	Obesity			-	mim2gene	OMIM:605231
8195	MKKS	HP:0001159	Syndactyly			-	mim2gene	OMIM:605231
8195	MKKS	HP:0003241	External genital hypoplasia			-	mim2gene	OMIM:605231
8195	MKKS	HP:0000107	Renal cyst			-	mim2gene	OMIM:605231
8195	MKKS	HP:0000819	Diabetes mellitus			-	mim2gene	OMIM:605231
8195	MKKS	HP:0010442	Polydactyly			-	mim2gene	OMIM:605231
8195	MKKS	HP:0000100	Nephrotic syndrome		HP:0040283		orphadata	ORPHA:110
8195	MKKS	HP:0006101	Finger syndactyly		HP:0040283		orphadata	ORPHA:110
8195	MKKS	HP:0000494	Downslanted palpebral fissures		HP:0040283		orphadata	ORPHA:110
8195	MKKS	HP:0002230	Generalized hirsutism		HP:0040283		orphadata	ORPHA:110
8195	MKKS	HP:0008724	Hypoplasia of the ovary		HP:0040282		orphadata	ORPHA:110
8195	MKKS	HP:0000135	Hypogonadism		HP:0040282		orphadata	ORPHA:110
8195	MKKS	HP:0010747	Medial flaring of the eyebrow		HP:0040283		orphadata	ORPHA:110
8195	MKKS	HP:0000368	Low-set, posteriorly rotated ears		HP:0040283		orphadata	ORPHA:110
8195	MKKS	HP:0000639	Nystagmus		HP:0040282		orphadata	ORPHA:110
8195	MKKS	HP:0000822	Hypertension		HP:0040282		orphadata	ORPHA:110
8195	MKKS	HP:0000512	Abnormal electroretinogram		HP:0040281		orphadata	ORPHA:110
8195	MKKS	HP:0001395	Hepatic fibrosis		HP:0040283		orphadata	ORPHA:110
8195	MKKS	HP:0000365	Hearing impairment		HP:0040283		orphadata	ORPHA:110
8195	MKKS	HP:0000426	Prominent nasal bridge		HP:0040283		orphadata	ORPHA:110
8195	MKKS	HP:0001162	Postaxial hand polydactyly		HP:0040281		orphadata	ORPHA:110
8195	MKKS	HP:0003202	Skeletal muscle atrophy		HP:0040283		orphadata	ORPHA:110
8195	MKKS	HP:0002167	Neurological speech impairment		HP:0040283		orphadata	ORPHA:110
8195	MKKS	HP:0001513	Obesity		HP:0040281		orphadata	ORPHA:110
8195	MKKS	HP:0008736	Hypoplasia of penis		HP:0040282		orphadata	ORPHA:110
8195	MKKS	HP:0000003	Multicystic kidney dysplasia		HP:0040281		orphadata	ORPHA:110
8195	MKKS	HP:0000470	Short neck		HP:0040283		orphadata	ORPHA:110
8195	MKKS	HP:0000028	Cryptorchidism		HP:0040283		orphadata	ORPHA:110
8195	MKKS	HP:0001249	Intellectual disability		HP:0040281		orphadata	ORPHA:110
8195	MKKS	HP:0004322	Short stature		HP:0040282		orphadata	ORPHA:110
8195	MKKS	HP:0000580	Pigmentary retinopathy		HP:0040281		orphadata	ORPHA:110
8200	GDF5	HP:0000446	Narrow nasal bridge		HP:0040281		orphadata	ORPHA:2639
8200	GDF5	HP:0004322	Short stature		HP:0040281		orphadata	ORPHA:2639
8200	GDF5	HP:0001156	Brachydactyly		HP:0040281		orphadata	ORPHA:2639
8200	GDF5	HP:0002983	Micromelia		HP:0040281		orphadata	ORPHA:2639
8200	GDF5	HP:0005930	Abnormality of epiphysis morphology		HP:0040281		orphadata	ORPHA:2639
8200	GDF5	HP:0002992	Abnormality of tibia morphology		HP:0040281		orphadata	ORPHA:2639
8200	GDF5	HP:0006492	Aplasia/Hypoplasia of the fibula		HP:0040281		orphadata	ORPHA:2639
8200	GDF5	HP:0002997	Abnormality of the ulna		HP:0040281		orphadata	ORPHA:2639
8200	GDF5	HP:0005048	Synostosis of carpal bones		HP:0040281		orphadata	ORPHA:2639
8200	GDF5	HP:0002818	Abnormality of the radius		HP:0040281		orphadata	ORPHA:2639
8200	GDF5	HP:0003272	Abnormality of the hip bone		HP:0040281		orphadata	ORPHA:2639
8200	GDF5	HP:0007598	Bilateral single transverse palmar creases		HP:0040281		orphadata	ORPHA:2639
8200	GDF5	HP:0001376	Limitation of joint mobility		HP:0040281		orphadata	ORPHA:2639
8200	GDF5	HP:0001172	Abnormal thumb morphology		HP:0040281		orphadata	ORPHA:2639
8200	GDF5	HP:0008368	Tarsal synostosis		HP:0040281		orphadata	ORPHA:2639
8200	GDF5	HP:0009536	Short 2nd finger		HP:0040281	-	mim2gene	OMIM:113100
8200	GDF5	HP:0009464	Ulnar deviation of the 2nd finger		HP:0040282	-	mim2gene	OMIM:113100
8200	GDF5	HP:0010259	Cone-shaped epiphyses of the middle phalanges of the hand		HP:0040281	-	mim2gene	OMIM:113100
8200	GDF5	HP:0002750	Delayed skeletal maturation		HP:0040283	-	mim2gene	OMIM:113100
8200	GDF5	HP:0009527	Enlarged epiphysis of the proximal phalanx of the 2nd finger		HP:0040282	-	mim2gene	OMIM:113100
8200	GDF5	HP:0009356	Triangular epiphysis of the proximal phalanx of the 3rd finger		HP:0040282	-	mim2gene	OMIM:113100
8200	GDF5	HP:0009575	Triangular shaped middle phalanx of the 2nd finger		HP:0040282	-	mim2gene	OMIM:113100
8200	GDF5	HP:0009331	Triangular epiphysis of the middle phalanx of the 3rd finger		HP:0040282	-	mim2gene	OMIM:113100
8200	GDF5	HP:0005819	Short middle phalanx of finger		HP:0040281	-	mim2gene	OMIM:113100
8200	GDF5	HP:0009534	Triangular epiphysis of the proximal phalanx of the 2nd finger		HP:0040282	-	mim2gene	OMIM:113100
8200	GDF5	HP:0011929	Hypersegmentation of proximal phalanx of third finger			-	mim2gene	OMIM:113100
8200	GDF5	HP:0001772	Talipes equinovalgus		HP:0040283	-	mim2gene	OMIM:113100
8200	GDF5	HP:0009417	Pseudoepiphyses of the 3rd finger		HP:0040281	-	mim2gene	OMIM:113100
8200	GDF5	HP:0001156	Brachydactyly			-	mim2gene	OMIM:113100
8200	GDF5	HP:0010442	Polydactyly			-	mim2gene	OMIM:113100
8200	GDF5	HP:0009436	Triangular shaped middle phalanx of the 3rd finger		HP:0040282	-	mim2gene	OMIM:113100
8200	GDF5	HP:0010034	Short 1st metacarpal		HP:0040282	-	mim2gene	OMIM:113100
8200	GDF5	HP:0009587	Triangular shaped proximal phalanx of the 2nd finger		HP:0040282	-	mim2gene	OMIM:113100
8200	GDF5	HP:0001762	Talipes equinovarus		HP:0040283	-	mim2gene	OMIM:113100
8200	GDF5	HP:0009461	Short 3rd finger		HP:0040281	-	mim2gene	OMIM:113100
8200	GDF5	HP:0006206	Hypersegmentation of proximal phalanx of second finger			-	mim2gene	OMIM:113100
8200	GDF5	HP:0009324	Enlarged epiphysis of the middle phalanx of the 3rd finger		HP:0040282	-	mim2gene	OMIM:113100
8200	GDF5	HP:0009456	Triangular shaped proximal phalanx of the 3rd finger		HP:0040282	-	mim2gene	OMIM:113100
8200	GDF5	HP:0003067	Madelung deformity			-	mim2gene	OMIM:113100
8200	GDF5	HP:0004322	Short stature		HP:0040282	-	mim2gene	OMIM:113100
8200	GDF5	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:113100
8200	GDF5	HP:0009349	Enlarged epiphysis of the proximal phalanx of the 3rd finger		HP:0040282	-	mim2gene	OMIM:113100
8200	GDF5	HP:0004209	Clinodactyly of the 5th finger		HP:0040282	-	mim2gene	OMIM:113100
8200	GDF5	HP:0009463	Ulnar deviation of the 3rd finger		HP:0040282	-	mim2gene	OMIM:113100
8200	GDF5	HP:0009495	Pseudoepiphyses of the 2nd finger		HP:0040281	-	mim2gene	OMIM:113100
8200	GDF5	HP:0009516	Enlarged epiphysis of the middle phalanx of the 2nd finger		HP:0040282	-	mim2gene	OMIM:113100
8200	GDF5	HP:0009523	Triangular epiphysis of the middle phalanx of the 2nd finger		HP:0040282	-	mim2gene	OMIM:113100
8200	GDF5	HP:0001156	Brachydactyly			-	mim2gene	OMIM:610017
8200	GDF5	HP:0100264	Proximal symphalangism			-	mim2gene	OMIM:610017
8200	GDF5	HP:0002948	Vertebral fusion			-	mim2gene	OMIM:610017
8200	GDF5	HP:0008368	Tarsal synostosis			-	mim2gene	OMIM:610017
8200	GDF5	HP:0000445	Wide nose			-	mim2gene	OMIM:610017
8200	GDF5	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:610017
8200	GDF5	HP:0001762	Talipes equinovarus		HP:0040283	-	mim2gene	OMIM:610017
8200	GDF5	HP:0009700	Finger symphalangism			-	mim2gene	OMIM:610017
8200	GDF5	HP:0009702	Carpal synostosis			-	mim2gene	OMIM:610017
8200	GDF5	HP:0003041	Humeroradial synostosis			-	mim2gene	OMIM:610017
8200	GDF5	HP:0009467	Radial deviation of the 2nd finger			-	mim2gene	OMIM:112600
8200	GDF5	HP:0004220	Short middle phalanx of the 5th finger			-	mim2gene	OMIM:112600
8200	GDF5	HP:0010055	Broad hallux			-	mim2gene	OMIM:112600
8200	GDF5	HP:0004691	2-3 toe syndactyly			-	mim2gene	OMIM:112600
8200	GDF5	HP:0008096	Medially deviated second toe			-	mim2gene	OMIM:112600
8200	GDF5	HP:0009182	Triangular shaped middle phalanx of the 5th finger			-	mim2gene	OMIM:112600
8200	GDF5	HP:0009575	Triangular shaped middle phalanx of the 2nd finger			-	mim2gene	OMIM:112600
8200	GDF5	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:112600
8200	GDF5	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger			-	mim2gene	OMIM:112600
8200	GDF5	HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger			-	mim2gene	OMIM:112600
8200	GDF5	HP:0010109	Short hallux			-	mim2gene	OMIM:112600
8200	GDF5	HP:0004209	Clinodactyly of the 5th finger			-	mim2gene	OMIM:112600
8200	GDF5	HP:0009464	Ulnar deviation of the 2nd finger			-	mim2gene	OMIM:112600
8200	GDF5	HP:0009536	Short 2nd finger			-	mim2gene	OMIM:112600
8200	GDF5	HP:0001822	Hallux valgus			-	mim2gene	OMIM:112600
8200	GDF5	HP:0003038	Fibular hypoplasia			question	mim2gene	OMIM:201250
8200	GDF5	HP:0008890	Severe short-limb dwarfism			question	mim2gene	OMIM:201250
8200	GDF5	HP:0005736	Short tibia			question	mim2gene	OMIM:201250
8200	GDF5	HP:0006144	Shortening of all proximal phalanges of the fingers			question	mim2gene	OMIM:201250
8200	GDF5	HP:0006014	Abnormally shaped carpal bones			question	mim2gene	OMIM:201250
8200	GDF5	HP:0000954	Single transverse palmar crease			question	mim2gene	OMIM:201250
8200	GDF5	HP:0002986	Radial bowing			question	mim2gene	OMIM:201250
8200	GDF5	HP:0003086	Acromesomelia			question	mim2gene	OMIM:201250
8200	GDF5	HP:0001773	Short foot			question	mim2gene	OMIM:201250
8200	GDF5	HP:0005096	Distal femoral bowing			question	mim2gene	OMIM:201250
8200	GDF5	HP:0003038	Fibular hypoplasia			question	mim2gene	OMIM:201250
8200	GDF5	HP:0003022	Hypoplasia of the ulna			question	mim2gene	OMIM:201250
8200	GDF5	HP:0003042	Elbow dislocation			question	mim2gene	OMIM:201250
8200	GDF5	HP:0006011	Cuboidal metacarpal			question	mim2gene	OMIM:201250
8200	GDF5	HP:0002984	Hypoplasia of the radius			question	mim2gene	OMIM:201250
8200	GDF5	HP:0009778	Short thumb			question	mim2gene	OMIM:201250
8200	GDF5	HP:0006110	Shortening of all middle phalanges of the fingers			question	mim2gene	OMIM:201250
8200	GDF5	HP:0002827	Hip dislocation			question	mim2gene	OMIM:201250
8200	GDF5	HP:0000007	Autosomal recessive inheritance			question	mim2gene	OMIM:201250
8200	GDF5	HP:0001772	Talipes equinovalgus		HP:0040282	-	mim2gene	OMIM:228900
8200	GDF5	HP:0002990	Fibular aplasia		HP:0040281	-	mim2gene	OMIM:228900
8200	GDF5	HP:0006092	Malaligned carpal bone		HP:0040282	-	mim2gene	OMIM:228900
8200	GDF5	HP:0010743	Short metatarsal		HP:0040282	-	mim2gene	OMIM:228900
8200	GDF5	HP:0002999	Patellar dislocation		HP:0040282	-	mim2gene	OMIM:228900
8200	GDF5	HP:0001792	Small nail		HP:0040282	-	mim2gene	OMIM:228900
8200	GDF5	HP:0010760	Absent toe		HP:0040282	-	mim2gene	OMIM:228900
8200	GDF5	HP:0004097	Deviation of finger		HP:0040282	-	mim2gene	OMIM:228900
8200	GDF5	HP:0009803	Short phalanx of finger		HP:0040282	-	mim2gene	OMIM:228900
8200	GDF5	HP:0010624	Aplastic/hypoplastic toenail			-	mim2gene	OMIM:228900
8200	GDF5	HP:0003038	Fibular hypoplasia			-	mim2gene	OMIM:228900
8200	GDF5	HP:0010049	Short metacarpal		HP:0040282	-	mim2gene	OMIM:228900
8200	GDF5	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:228900
8200	GDF5	HP:0001156	Brachydactyly		HP:0040281	-	mim2gene	OMIM:228900
8200	GDF5	HP:0008905	Rhizomelia		HP:0040282	-	mim2gene	OMIM:228900
8200	GDF5	HP:0008119	Deformed tarsal bones		HP:0040282	-	mim2gene	OMIM:228900
8200	GDF5	HP:0009177	Proximal/middle symphalangism of 5th finger			-	mim2gene	OMIM:615298
8200	GDF5	HP:0001763	Pes planus			-	mim2gene	OMIM:615298
8200	GDF5	HP:0006143	Abnormal finger flexion creases			-	mim2gene	OMIM:615298
8200	GDF5	HP:0001773	Short foot		HP:0040282		orphadata	ORPHA:93396
8200	GDF5	HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger		HP:0040283		orphadata	ORPHA:93396
8200	GDF5	HP:0004209	Clinodactyly of the 5th finger		HP:0040282		orphadata	ORPHA:93396
8200	GDF5	HP:0010038	Short 2nd metacarpal		HP:0040283		orphadata	ORPHA:93396
8200	GDF5	HP:0004220	Short middle phalanx of the 5th finger		HP:0040283		orphadata	ORPHA:93396
8200	GDF5	HP:0009372	Type A2 brachydactyly		HP:0040281		orphadata	ORPHA:93396
8200	GDF5	HP:0008873	Disproportionate short-limb short stature		HP:0040281		orphadata	ORPHA:2098
8200	GDF5	HP:0009601	Aplasia/Hypoplasia of the thumb		HP:0040282		orphadata	ORPHA:2098
8200	GDF5	HP:0001387	Joint stiffness		HP:0040281		orphadata	ORPHA:2098
8200	GDF5	HP:0008368	Tarsal synostosis		HP:0040281		orphadata	ORPHA:2098
8200	GDF5	HP:0001162	Postaxial hand polydactyly		HP:0040282		orphadata	ORPHA:2098
8200	GDF5	HP:0006487	Bowing of the long bones		HP:0040281		orphadata	ORPHA:2098
8200	GDF5	HP:0005048	Synostosis of carpal bones		HP:0040281		orphadata	ORPHA:2098
8200	GDF5	HP:0001773	Short foot		HP:0040281		orphadata	ORPHA:2098
8200	GDF5	HP:0001156	Brachydactyly		HP:0040281		orphadata	ORPHA:2098
8200	GDF5	HP:0002652	Skeletal dysplasia		HP:0040281		orphadata	ORPHA:2098
8200	GDF5	HP:0001831	Short toe		HP:0040281		orphadata	ORPHA:2098
8200	GDF5	HP:0002983	Micromelia		HP:0040281		orphadata	ORPHA:2098
8200	GDF5	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones		HP:0040281		orphadata	ORPHA:2098
8200	GDF5	HP:0003038	Fibular hypoplasia		HP:0040282		orphadata	ORPHA:2098
8200	GDF5	HP:0100242	Sarcoma		HP:0040281		orphadata	ORPHA:2098
8200	GDF5	HP:0100387	Aplasia of the middle phalanges of the toes		HP:0040281		orphadata	ORPHA:2098
8200	GDF5	HP:0001522	Death in infancy		HP:0040283		orphadata	ORPHA:2098
8200	GDF5	HP:0005736	Short tibia		HP:0040282		orphadata	ORPHA:2098
8200	GDF5	HP:0009295	Short middle phalanx of the 4th finger			-	mim2gene	OMIM:615072
8200	GDF5	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:615072
8200	GDF5	HP:0001156	Brachydactyly		HP:0040280	-	mim2gene	OMIM:615072
8200	GDF5	HP:0009882	Short distal phalanx of finger			-	mim2gene	OMIM:615072
8200	GDF5	HP:0009577	Short middle phalanx of the 2nd finger			-	mim2gene	OMIM:615072
8200	GDF5	HP:0001776	Bilateral talipes equinovarus			-	mim2gene	OMIM:615072
8200	GDF5	HP:0004220	Short middle phalanx of the 5th finger			-	mim2gene	OMIM:615072
8200	GDF5	HP:0004322	Short stature			-	mim2gene	OMIM:615072
8200	GDF5	HP:0009439	Short middle phalanx of the 3rd finger			-	mim2gene	OMIM:615072
8200	GDF5	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:615072
8200	GDF5	HP:0005692	Joint hyperflexibility		HP:0040283		orphadata	ORPHA:63442
8200	GDF5	HP:0010034	Short 1st metacarpal		HP:0040281		orphadata	ORPHA:63442
8200	GDF5	HP:0002750	Delayed skeletal maturation		HP:0040283		orphadata	ORPHA:63442
8200	GDF5	HP:0000684	Delayed eruption of teeth		HP:0040282		orphadata	ORPHA:63442
8200	GDF5	HP:0001385	Hip dysplasia		HP:0040282		orphadata	ORPHA:63442
8200	GDF5	HP:0004220	Short middle phalanx of the 5th finger		HP:0040281		orphadata	ORPHA:63442
8200	GDF5	HP:0005930	Abnormality of epiphysis morphology		HP:0040281		orphadata	ORPHA:63442
8200	GDF5	HP:0004322	Short stature		HP:0040282		orphadata	ORPHA:63442
8200	GDF5	HP:0008843	Hip osteoarthritis		HP:0040282		orphadata	ORPHA:63442
8200	GDF5	HP:0000668	Hypodontia		HP:0040282		orphadata	ORPHA:63442
8200	GDF5	HP:0003022	Hypoplasia of the ulna		HP:0040283		orphadata	ORPHA:93388
8200	GDF5	HP:0005819	Short middle phalanx of finger		HP:0040281		orphadata	ORPHA:93388
8200	GDF5	HP:0010579	Cone-shaped epiphysis		HP:0040282		orphadata	ORPHA:93388
8200	GDF5	HP:0002650	Scoliosis		HP:0040283		orphadata	ORPHA:93388
8200	GDF5	HP:0009778	Short thumb		HP:0040281		orphadata	ORPHA:93388
8200	GDF5	HP:0001773	Short foot		HP:0040281		orphadata	ORPHA:93388
8200	GDF5	HP:0001230	Broad metacarpals		HP:0040283		orphadata	ORPHA:93388
8200	GDF5	HP:0010109	Short hallux		HP:0040281		orphadata	ORPHA:93388
8200	GDF5	HP:0001204	Distal symphalangism of hands		HP:0040283		orphadata	ORPHA:93388
8200	GDF5	HP:0001762	Talipes equinovarus		HP:0040283		orphadata	ORPHA:93388
8200	GDF5	HP:0004209	Clinodactyly of the 5th finger		HP:0040283		orphadata	ORPHA:93388
8200	GDF5	HP:0004322	Short stature		HP:0040281		orphadata	ORPHA:93388
8200	GDF5	HP:0009684	Stippling of the epiphysis of the distal phalanx of the thumb		HP:0040282		orphadata	ORPHA:93384
8200	GDF5	HP:0009465	Ulnar deviation of finger		HP:0040281		orphadata	ORPHA:93384
8200	GDF5	HP:0004209	Clinodactyly of the 5th finger		HP:0040283		orphadata	ORPHA:93384
8200	GDF5	HP:0009373	Type C brachydactyly		HP:0040281		orphadata	ORPHA:93384
8200	GDF5	HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal		HP:0040281		orphadata	ORPHA:93384
8200	GDF5	HP:0004322	Short stature		HP:0040283		orphadata	ORPHA:93384
8200	GDF5	HP:0009606	Complete duplication of distal phalanx of the thumb		HP:0040282		orphadata	ORPHA:93384
8200	GDF5	HP:0009773	Symphalangism affecting the phalanges of the hand		HP:0040283		orphadata	ORPHA:93384
8200	GDF5	HP:0010508	Metatarsus valgus		HP:0040283		orphadata	ORPHA:93384
8200	GDF5	HP:0001231	Abnormal fingernail morphology		HP:0040282		orphadata	ORPHA:93384
8200	GDF5	HP:0005819	Short middle phalanx of finger		HP:0040281		orphadata	ORPHA:93384
8200	GDF5	HP:0010579	Cone-shaped epiphysis		HP:0040282		orphadata	ORPHA:93384
8200	GDF5	HP:0009495	Pseudoepiphyses of the 2nd finger		HP:0040281		orphadata	ORPHA:93384
8200	GDF5	HP:0010743	Short metatarsal		HP:0040282		orphadata	ORPHA:93384
8200	GDF5	HP:0000324	Facial asymmetry		HP:0040283		orphadata	ORPHA:3237
8200	GDF5	HP:0001387	Joint stiffness		HP:0040281		orphadata	ORPHA:3237
8200	GDF5	HP:0009773	Symphalangism affecting the phalanges of the hand		HP:0040281		orphadata	ORPHA:3237
8200	GDF5	HP:0001597	Abnormality of the nail		HP:0040283		orphadata	ORPHA:3237
8200	GDF5	HP:0004279	Short palm		HP:0040281		orphadata	ORPHA:3237
8200	GDF5	HP:0000405	Conductive hearing impairment		HP:0040281		orphadata	ORPHA:3237
8200	GDF5	HP:0007598	Bilateral single transverse palmar creases		HP:0040282		orphadata	ORPHA:3237
8200	GDF5	HP:0011304	Broad thumb		HP:0040282		orphadata	ORPHA:3237
8200	GDF5	HP:0001156	Brachydactyly		HP:0040281		orphadata	ORPHA:3237
8200	GDF5	HP:0010579	Cone-shaped epiphysis		HP:0040282		orphadata	ORPHA:3237
8200	GDF5	HP:0002167	Neurological speech impairment		HP:0040281		orphadata	ORPHA:968
8200	GDF5	HP:0003028	Abnormality of the ankles		HP:0040281		orphadata	ORPHA:968
8200	GDF5	HP:0100543	Cognitive impairment		HP:0040282		orphadata	ORPHA:968
8200	GDF5	HP:0009778	Short thumb		HP:0040281		orphadata	ORPHA:968
8200	GDF5	HP:0002827	Hip dislocation		HP:0040282		orphadata	ORPHA:968
8200	GDF5	HP:0007598	Bilateral single transverse palmar creases		HP:0040281		orphadata	ORPHA:968
8200	GDF5	HP:0008890	Severe short-limb dwarfism		HP:0040281		orphadata	ORPHA:968
8200	GDF5	HP:0006014	Abnormally shaped carpal bones		HP:0040282		orphadata	ORPHA:968
8200	GDF5	HP:0001156	Brachydactyly		HP:0040281		orphadata	ORPHA:968
8200	GDF5	HP:0002650	Scoliosis		HP:0040282		orphadata	ORPHA:968
8200	GDF5	HP:0003042	Elbow dislocation		HP:0040281		orphadata	ORPHA:968
8200	GDF5	HP:0006011	Cuboidal metacarpal		HP:0040282		orphadata	ORPHA:968
8200	GDF5	HP:0008368	Tarsal synostosis		HP:0040281		orphadata	ORPHA:968
8200	GDF5	HP:0001387	Joint stiffness		HP:0040282		orphadata	ORPHA:968
8200	GDF5	HP:0002999	Patellar dislocation		HP:0040282		orphadata	ORPHA:968
8200	GDF5	HP:0003086	Acromesomelia		HP:0040281		orphadata	ORPHA:968
8200	GDF5	HP:0000407	Sensorineural hearing impairment		HP:0040282		orphadata	ORPHA:3250
8200	GDF5	HP:0003042	Elbow dislocation		HP:0040282		orphadata	ORPHA:3250
8200	GDF5	HP:0000486	Strabismus		HP:0040283		orphadata	ORPHA:3250
8200	GDF5	HP:0001156	Brachydactyly		HP:0040282		orphadata	ORPHA:3250
8200	GDF5	HP:0003070	Elbow ankylosis		HP:0040282		orphadata	ORPHA:3250
8200	GDF5	HP:0005048	Synostosis of carpal bones		HP:0040281		orphadata	ORPHA:3250
8200	GDF5	HP:0004209	Clinodactyly of the 5th finger		HP:0040283		orphadata	ORPHA:3250
8200	GDF5	HP:0008368	Tarsal synostosis		HP:0040281		orphadata	ORPHA:3250
8200	GDF5	HP:0100490	Camptodactyly of finger		HP:0040281		orphadata	ORPHA:3250
8200	GDF5	HP:0006101	Finger syndactyly		HP:0040283		orphadata	ORPHA:3250
8200	GDF5	HP:0005880	Metacarpophalangeal synostosis		HP:0040282		orphadata	ORPHA:3250
8200	GDF5	HP:0100264	Proximal symphalangism		HP:0040281		orphadata	ORPHA:3250
8200	GDF5	HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones			-	mim2gene	OMIM:200700
8200	GDF5	HP:0001522	Death in infancy			-	mim2gene	OMIM:200700
8200	GDF5	HP:0009803	Short phalanx of finger			-	mim2gene	OMIM:200700
8200	GDF5	HP:0001964	Aplasia/Hypoplasia of metatarsal bones			-	mim2gene	OMIM:200700
8200	GDF5	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:200700
8200	GDF5	HP:0008081	Pes valgus			-	mim2gene	OMIM:200700
8200	GDF5	HP:0006498	Aplasia/Hypoplasia of the patella			-	mim2gene	OMIM:200700
8200	GDF5	HP:0003086	Acromesomelia			-	mim2gene	OMIM:200700
8200	GDF5	HP:0001371	Flexion contracture			-	mim2gene	OMIM:200700
8200	GDF5	HP:0008873	Disproportionate short-limb short stature			-	mim2gene	OMIM:200700
8200	GDF5	HP:0011927	Short digit			-	mim2gene	OMIM:200700
8200	GDF5	HP:0001773	Short foot			-	mim2gene	OMIM:200700
8200	GDF5	HP:0005792	Short humerus			-	mim2gene	OMIM:200700
8200	GDF5	HP:0001162	Postaxial hand polydactyly			-	mim2gene	OMIM:200700
8200	GDF5	HP:0002984	Hypoplasia of the radius			-	mim2gene	OMIM:200700
8200	GDF5	HP:0005736	Short tibia			-	mim2gene	OMIM:200700
8200	GDF5	HP:0006228	Valgus hand deformity			-	mim2gene	OMIM:200700
8200	GDF5	HP:0003022	Hypoplasia of the ulna			-	mim2gene	OMIM:200700
8200	GDF5	HP:0003826	Stillbirth			-	mim2gene	OMIM:200700
8200	GDF5	HP:0003038	Fibular hypoplasia			-	mim2gene	OMIM:200700
8200	GDF5	HP:0003097	Short femur			-	mim2gene	OMIM:200700
90121	TSR2	HP:0001972	Macrocytic anemia			question	mim2gene	OMIM:300946
90121	TSR2	HP:0000405	Conductive hearing impairment			question	mim2gene	OMIM:300946
90121	TSR2	HP:0011800	Midface retrusion			question	mim2gene	OMIM:300946
90121	TSR2	HP:0000494	Downslanted palpebral fissures			question	mim2gene	OMIM:300946
90121	TSR2	HP:0000347	Micrognathia			question	mim2gene	OMIM:300946
90121	TSR2	HP:0001419	X-linked recessive inheritance			question	mim2gene	OMIM:300946
90121	TSR2	HP:0008551	Microtia			question	mim2gene	OMIM:300946
90121	TSR2	HP:0000653	Sparse eyelashes			question	mim2gene	OMIM:300946
90121	TSR2	HP:0011675	Arrhythmia		HP:0040281		orphadata	ORPHA:124
90121	TSR2	HP:0002488	Acute leukemia		HP:0040283		orphadata	ORPHA:124
90121	TSR2	HP:0001972	Macrocytic anemia		HP:0040282		orphadata	ORPHA:124
90121	TSR2	HP:0001155	Abnormality of the hand		HP:0040282		orphadata	ORPHA:124
90121	TSR2	HP:0003196	Short nose		HP:0040283		orphadata	ORPHA:124
90121	TSR2	HP:0000079	Abnormality of the urinary system		HP:0040282		orphadata	ORPHA:124
90121	TSR2	HP:0000980	Pallor		HP:0040281		orphadata	ORPHA:124
90121	TSR2	HP:0004322	Short stature		HP:0040283		orphadata	ORPHA:124
90121	TSR2	HP:0000457	Depressed nasal ridge		HP:0040283		orphadata	ORPHA:124
90121	TSR2	HP:0000823	Delayed puberty		HP:0040282		orphadata	ORPHA:124
90121	TSR2	HP:0012378	Fatigue		HP:0040282		orphadata	ORPHA:124
90121	TSR2	HP:0000175	Cleft palate		HP:0040282		orphadata	ORPHA:124
90121	TSR2	HP:0002076	Migraine		HP:0040282		orphadata	ORPHA:124
90121	TSR2	HP:0000078	Abnormality of the genital system		HP:0040282		orphadata	ORPHA:124
90121	TSR2	HP:0000179	Thick lower lip vermilion		HP:0040283		orphadata	ORPHA:124
8204	NRIP1	HP:0000107	Renal cyst			question	mim2gene	OMIM:618270
8204	NRIP1	HP:0003828	Variable expressivity			question	mim2gene	OMIM:618270
8204	NRIP1	HP:0000006	Autosomal dominant inheritance			question	mim2gene	OMIM:618270
8204	NRIP1	HP:0003829	Incomplete penetrance			question	mim2gene	OMIM:618270
8204	NRIP1	HP:0000086	Ectopic kidney			question	mim2gene	OMIM:618270
8204	NRIP1	HP:0000126	Hydronephrosis			question	mim2gene	OMIM:618270
8204	NRIP1	HP:0000076	Vesicoureteral reflux			question	mim2gene	OMIM:618270
16	AARS1	HP:0000494	Downslanted palpebral fissures		HP:0040283		orphadata	ORPHA:442835
16	AARS1	HP:0001558	Decreased fetal movement		HP:0040283		orphadata	ORPHA:442835
16	AARS1	HP:0000252	Microcephaly		HP:0040283		orphadata	ORPHA:442835
16	AARS1	HP:0001257	Spasticity		HP:0040283		orphadata	ORPHA:442835
16	AARS1	HP:0002521	Hypsarrhythmia		HP:0040283		orphadata	ORPHA:442835
16	AARS1	HP:0010844	EEG with multifocal slow activity		HP:0040282		orphadata	ORPHA:442835
16	AARS1	HP:0002355	Difficulty walking		HP:0040283		orphadata	ORPHA:442835
16	AARS1	HP:0002133	Status epilepticus		HP:0040284		orphadata	ORPHA:442835
16	AARS1	HP:0011968	Feeding difficulties		HP:0040283		orphadata	ORPHA:442835
16	AARS1	HP:0012447	Abnormal myelination		HP:0040283		orphadata	ORPHA:442835
16	AARS1	HP:0001298	Encephalopathy		HP:0040281		orphadata	ORPHA:442835
16	AARS1	HP:0002421	Poor head control		HP:0040283		orphadata	ORPHA:442835
16	AARS1	HP:0000504	Abnormality of vision		HP:0040284		orphadata	ORPHA:442835
16	AARS1	HP:0000750	Delayed speech and language development		HP:0040282		orphadata	ORPHA:442835
16	AARS1	HP:0001249	Intellectual disability		HP:0040282		orphadata	ORPHA:442835
16	AARS1	HP:0004322	Short stature		HP:0040283		orphadata	ORPHA:442835
16	AARS1	HP:0000648	Optic atrophy		HP:0040284		orphadata	ORPHA:442835
16	AARS1	HP:0001265	Hyporeflexia		HP:0040282		orphadata	ORPHA:442835
16	AARS1	HP:0001290	Generalized hypotonia		HP:0040282		orphadata	ORPHA:442835
16	AARS1	HP:0000639	Nystagmus		HP:0040283		orphadata	ORPHA:442835
16	AARS1	HP:0002509	Limb hypertonia		HP:0040284		orphadata	ORPHA:442835
16	AARS1	HP:0002020	Gastroesophageal reflux		HP:0040283		orphadata	ORPHA:442835
16	AARS1	HP:0000508	Ptosis		HP:0040283		orphadata	ORPHA:442835
16	AARS1	HP:0000546	Retinal degeneration		HP:0040284		orphadata	ORPHA:442835
16	AARS1	HP:0001508	Failure to thrive		HP:0040282		orphadata	ORPHA:442835
16	AARS1	HP:0001263	Global developmental delay		HP:0040282		orphadata	ORPHA:442835
16	AARS1	HP:0001336	Myoclonus		HP:0040283		orphadata	ORPHA:442835
16	AARS1	HP:0001268	Mental deterioration		HP:0040283		orphadata	ORPHA:442835
16	AARS1	HP:0001251	Ataxia		HP:0040283		orphadata	ORPHA:442835
16	AARS1	HP:0000668	Hypodontia		HP:0040283		orphadata	ORPHA:442835
16	AARS1	HP:0002063	Rigidity		HP:0040283		orphadata	ORPHA:442835
16	AARS1	HP:0007018	Attention deficit hyperactivity disorder		HP:0040283		orphadata	ORPHA:442835
16	AARS1	HP:0001273	Abnormal corpus callosum morphology		HP:0040283		orphadata	ORPHA:442835
16	AARS1	HP:0100710	Impulsivity		HP:0040283		orphadata	ORPHA:442835
16	AARS1	HP:0001337	Tremor		HP:0040283		orphadata	ORPHA:442835
16	AARS1	HP:0002376	Developmental regression		HP:0040282		orphadata	ORPHA:442835
16	AARS1	HP:0100660	Dyskinesia		HP:0040283		orphadata	ORPHA:442835
16	AARS1	HP:0002317	Unsteady gait		HP:0040283		orphadata	ORPHA:442835
16	AARS1	HP:0000348	High forehead		HP:0040283		orphadata	ORPHA:442835
16	AARS1	HP:0000717	Autism		HP:0040283		orphadata	ORPHA:442835
16	AARS1	HP:0002059	Cerebral atrophy		HP:0040283		orphadata	ORPHA:442835
16	AARS1	HP:0001511	Intrauterine growth retardation			-	mim2gene	OMIM:616339
16	AARS1	HP:0002827	Hip dislocation			-	mim2gene	OMIM:616339
16	AARS1	HP:0200134	Epileptic encephalopathy			-	mim2gene	OMIM:616339
16	AARS1	HP:0000252	Microcephaly			-	mim2gene	OMIM:616339
16	AARS1	HP:0001298	Encephalopathy			-	mim2gene	OMIM:616339
16	AARS1	HP:0009830	Peripheral neuropathy			-	mim2gene	OMIM:616339
16	AARS1	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:616339
16	AARS1	HP:0001257	Spasticity			-	mim2gene	OMIM:616339
16	AARS1	HP:0000639	Nystagmus			-	mim2gene	OMIM:616339
16	AARS1	HP:0003577	Congenital onset			-	mim2gene	OMIM:616339
16	AARS1	HP:0002072	Chorea			-	mim2gene	OMIM:616339
16	AARS1	HP:0001284	Areflexia			-	mim2gene	OMIM:616339
16	AARS1	HP:0000643	Blepharospasm			-	mim2gene	OMIM:616339
16	AARS1	HP:0001263	Global developmental delay			-	mim2gene	OMIM:616339
16	AARS1	HP:0001508	Failure to thrive			-	mim2gene	OMIM:616339
16	AARS1	HP:0003429	CNS hypomyelination			-	mim2gene	OMIM:616339
16	AARS1	HP:0001250	Seizures			-	mim2gene	OMIM:616339
16	AARS1	HP:0004322	Short stature			-	mim2gene	OMIM:616339
16	AARS1	HP:0001290	Generalized hypotonia			-	mim2gene	OMIM:616339
16	AARS1	HP:0002059	Cerebral atrophy			-	mim2gene	OMIM:616339
16	AARS1	HP:0001765	Hammertoe			-	mim2gene	OMIM:613287
16	AARS1	HP:0003828	Variable expressivity			-	mim2gene	OMIM:613287
16	AARS1	HP:0001761	Pes cavus			-	mim2gene	OMIM:613287
16	AARS1	HP:0009027	Foot dorsiflexor weakness			-	mim2gene	OMIM:613287
16	AARS1	HP:0000407	Sensorineural hearing impairment			-	mim2gene	OMIM:613287
16	AARS1	HP:0001284	Areflexia			-	mim2gene	OMIM:613287
16	AARS1	HP:0003202	Skeletal muscle atrophy			-	mim2gene	OMIM:613287
16	AARS1	HP:0003431	Decreased motor nerve conduction velocity			-	mim2gene	OMIM:613287
16	AARS1	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:613287
16	AARS1	HP:0002936	Distal sensory impairment			-	mim2gene	OMIM:613287
16	AARS1	HP:0002460	Distal muscle weakness			-	mim2gene	OMIM:613287
16	AARS1	HP:0003477	Peripheral axonal neuropathy			-	mim2gene	OMIM:613287
18	ABAT	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:613163
18	ABAT	HP:0000278	Retrognathia			-	mim2gene	OMIM:613163
18	ABAT	HP:0001250	Seizures			-	mim2gene	OMIM:613163
18	ABAT	HP:0001254	Lethargy			-	mim2gene	OMIM:613163
18	ABAT	HP:0025430	High-pitched cry			-	mim2gene	OMIM:613163
18	ABAT	HP:0000098	Tall stature			-	mim2gene	OMIM:613163
18	ABAT	HP:0000494	Downslanted palpebral fissures			-	mim2gene	OMIM:613163
18	ABAT	HP:0001274	Agenesis of corpus callosum			-	mim2gene	OMIM:613163
18	ABAT	HP:0001321	Cerebellar hypoplasia			-	mim2gene	OMIM:613163
18	ABAT	HP:0006829	Severe muscular hypotonia			-	mim2gene	OMIM:613163
18	ABAT	HP:0001263	Global developmental delay			-	mim2gene	OMIM:613163
18	ABAT	HP:0001347	Hyperreflexia			-	mim2gene	OMIM:613163
18	ABAT	HP:0007291	Posterior fossa cyst			-	mim2gene	OMIM:613163
18	ABAT	HP:0002415	Leukodystrophy			-	mim2gene	OMIM:613163
18	ABAT	HP:0025356	Psychomotor retardation			-	mim2gene	OMIM:613163
18	ABAT	HP:0003819	Death in childhood			-	mim2gene	OMIM:613163
19	ABCA1	HP:0011096	Peripheral demyelination			-	mim2gene	OMIM:205400
19	ABCA1	HP:0000505	Visual impairment			-	mim2gene	OMIM:205400
19	ABCA1	HP:0001349	Facial diplegia			-	mim2gene	OMIM:205400
19	ABCA1	HP:0002164	Nail dysplasia			-	mim2gene	OMIM:205400
19	ABCA1	HP:0007759	Opacification of the corneal stroma			-	mim2gene	OMIM:205400
19	ABCA1	HP:0003477	Peripheral axonal neuropathy			-	mim2gene	OMIM:205400
19	ABCA1	HP:0001677	Coronary artery atherosclerosis			-	mim2gene	OMIM:205400
19	ABCA1	HP:0000958	Dry skin			-	mim2gene	OMIM:205400
19	ABCA1	HP:0001744	Splenomegaly			-	mim2gene	OMIM:205400
19	ABCA1	HP:0002240	Hepatomegaly			-	mim2gene	OMIM:205400
19	ABCA1	HP:0010829	Impaired temperature sensation			-	mim2gene	OMIM:205400
19	ABCA1	HP:0000656	Ectropion			-	mim2gene	OMIM:205400
19	ABCA1	HP:0003693	Distal amyotrophy			-	mim2gene	OMIM:205400
19	ABCA1	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:205400
19	ABCA1	HP:0007328	Impaired pain sensation			-	mim2gene	OMIM:205400
19	ABCA1	HP:0001265	Hyporeflexia			-	mim2gene	OMIM:205400
19	ABCA1	HP:0001712	Left ventricular hypertrophy			-	mim2gene	OMIM:205400
19	ABCA1	HP:0008404	Nail dystrophy			-	mim2gene	OMIM:205400
19	ABCA1	HP:0025608	Cicatricial ectropion			-	mim2gene	OMIM:205400
19	ABCA1	HP:0001658	Myocardial infarction			-	mim2gene	OMIM:205400
19	ABCA1	HP:0003233	Decreased HDL cholesterol concentration			-	mim2gene	OMIM:205400
19	ABCA1	HP:0005181	Premature coronary artery atherosclerosis	2/4		-	mim2gene	OMIM:604091
19	ABCA1	HP:0003233	Decreased HDL cholesterol concentration			-	mim2gene	OMIM:604091
19	ABCA1	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:604091
19	ABCA1	HP:0001658	Myocardial infarction			-	mim2gene	OMIM:604091
19	ABCA1	HP:0001903	Anemia		HP:0040282		orphadata	ORPHA:425
19	ABCA1	HP:0007957	Corneal opacity		HP:0040282		orphadata	ORPHA:425
19	ABCA1	HP:0001744	Splenomegaly		HP:0040282		orphadata	ORPHA:425
19	ABCA1	HP:0002716	Lymphadenopathy		HP:0040282		orphadata	ORPHA:425
19	ABCA1	HP:0001392	Abnormality of the liver		HP:0040282		orphadata	ORPHA:425
19	ABCA1	HP:0003233	Decreased HDL cholesterol concentration		HP:0040282		orphadata	ORPHA:425
19	ABCA1	HP:0004374	Hemiplegia/hemiparesis		HP:0040282		orphadata	ORPHA:425
19	ABCA1	HP:0000622	Blurred vision		HP:0040282		orphadata	ORPHA:425
19	ABCA1	HP:0000991	Xanthomatosis		HP:0040282		orphadata	ORPHA:425
19	ABCA1	HP:0003457	EMG abnormality		HP:0040282		orphadata	ORPHA:425
19	ABCA1	HP:0003396	Syringomyelia		HP:0040283		orphadata	ORPHA:31150
19	ABCA1	HP:0006901	Impaired thermal sensitivity		HP:0040283		orphadata	ORPHA:31150
19	ABCA1	HP:0001349	Facial diplegia		HP:0040283		orphadata	ORPHA:31150
19	ABCA1	HP:0000958	Dry skin		HP:0040282		orphadata	ORPHA:31150
19	ABCA1	HP:0001903	Anemia		HP:0040283		orphadata	ORPHA:31150
19	ABCA1	HP:0002460	Distal muscle weakness		HP:0040282		orphadata	ORPHA:31150
19	ABCA1	HP:0002155	Hypertriglyceridemia		HP:0040281		orphadata	ORPHA:31150
19	ABCA1	HP:0001433	Hepatosplenomegaly		HP:0040282		orphadata	ORPHA:31150
19	ABCA1	HP:0008404	Nail dystrophy		HP:0040282		orphadata	ORPHA:31150
19	ABCA1	HP:0004943	Accelerated atherosclerosis		HP:0040282		orphadata	ORPHA:31150
19	ABCA1	HP:0100546	Carotid artery stenosis		HP:0040283		orphadata	ORPHA:31150
19	ABCA1	HP:0003146	Hypocholesterolemia		HP:0040281		orphadata	ORPHA:31150
19	ABCA1	HP:0001873	Thrombocytopenia		HP:0040283		orphadata	ORPHA:31150
19	ABCA1	HP:0007133	Progressive peripheral neuropathy		HP:0040282		orphadata	ORPHA:31150
19	ABCA1	HP:0030814	Orange discolored tonsils		HP:0040282		orphadata	ORPHA:31150
19	ABCA1	HP:0000656	Ectropion		HP:0040282		orphadata	ORPHA:31150
19	ABCA1	HP:0002027	Abdominal pain		HP:0040282		orphadata	ORPHA:31150
19	ABCA1	HP:0001712	Left ventricular hypertrophy		HP:0040283		orphadata	ORPHA:31150
19	ABCA1	HP:0003477	Peripheral axonal neuropathy		HP:0040282		orphadata	ORPHA:31150
19	ABCA1	HP:0005145	Coronary artery stenosis		HP:0040282		orphadata	ORPHA:31150
19	ABCA1	HP:0002730	Chronic noninfectious lymphadenopathy		HP:0040282		orphadata	ORPHA:31150
19	ABCA1	HP:0007957	Corneal opacity		HP:0040283		orphadata	ORPHA:31150
21	ABCA3	HP:0012735	Cough		HP:0040282		orphadata	ORPHA:2032
21	ABCA3	HP:0030830	Crackles		HP:0040282		orphadata	ORPHA:2032
21	ABCA3	HP:0002206	Pulmonary fibrosis		HP:0040282		orphadata	ORPHA:2032
21	ABCA3	HP:0002875	Exertional dyspnea		HP:0040282		orphadata	ORPHA:2032
21	ABCA3	HP:0025175	Honeycomb lung		HP:0040282		orphadata	ORPHA:2032
21	ABCA3	HP:0002020	Gastroesophageal reflux		HP:0040282		orphadata	ORPHA:2032
21	ABCA3	HP:0002110	Bronchiectasis		HP:0040282		orphadata	ORPHA:2032
21	ABCA3	HP:0025390	Reticular pattern on pulmonary HRCT		HP:0040282		orphadata	ORPHA:2032
21	ABCA3	HP:0100759	Clubbing of fingers		HP:0040282		orphadata	ORPHA:2032
21	ABCA3	HP:0010444	Pulmonary insufficiency		HP:0040283		orphadata	ORPHA:2032
21	ABCA3	HP:0025179	Ground-glass opacification on pulmonary HRCT		HP:0040282		orphadata	ORPHA:2032
21	ABCA3	HP:0002098	Respiratory distress			-	mim2gene	OMIM:610921
21	ABCA3	HP:0003577	Congenital onset			-	mim2gene	OMIM:610921
21	ABCA3	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:610921
21	ABCA3	HP:0002104	Apnea			-	mim2gene	OMIM:610921
21	ABCA3	HP:0002878	Respiratory failure			-	mim2gene	OMIM:610921
21	ABCA3	HP:0001425	Heterogeneous			-	mim2gene	OMIM:610921
21	ABCA3	HP:0001508	Failure to thrive			-	mim2gene	OMIM:610921
21	ABCA3	HP:0002789	Tachypnea			-	mim2gene	OMIM:610921
21	ABCA3	HP:0006517	Alveolar proteinosis			-	mim2gene	OMIM:610921
21	ABCA3	HP:0005942	Desquamative interstitial pneumonitis			-	mim2gene	OMIM:610921
22	ABCB7	HP:0002075	Dysdiadochokinesis			-	mim2gene	OMIM:301310
22	ABCB7	HP:0003487	Babinski sign			-	mim2gene	OMIM:301310
22	ABCB7	HP:0004840	Hypochromic microcytic anemia			-	mim2gene	OMIM:301310
22	ABCB7	HP:0001924	Sideroblastic anemia			-	mim2gene	OMIM:301310
22	ABCB7	HP:0002470	Nonprogressive cerebellar ataxia			-	mim2gene	OMIM:301310
22	ABCB7	HP:0002169	Clonus			-	mim2gene	OMIM:301310
22	ABCB7	HP:0001419	X-linked recessive inheritance			-	mim2gene	OMIM:301310
22	ABCB7	HP:0001939	Abnormality of metabolism/homeostasis			-	mim2gene	OMIM:301310
22	ABCB7	HP:0001260	Dysarthria			-	mim2gene	OMIM:301310
22	ABCB7	HP:0001310	Dysmetria			-	mim2gene	OMIM:301310
22	ABCB7	HP:0002080	Intention tremor			-	mim2gene	OMIM:301310
22	ABCB7	HP:0003621	Juvenile onset			-	mim2gene	OMIM:301310
22	ABCB7	HP:0001347	Hyperreflexia		HP:0040282		orphadata	ORPHA:2802
22	ABCB7	HP:0002167	Neurological speech impairment		HP:0040281		orphadata	ORPHA:2802
22	ABCB7	HP:0000639	Nystagmus		HP:0040281		orphadata	ORPHA:2802
22	ABCB7	HP:0001903	Anemia		HP:0040281		orphadata	ORPHA:2802
22	ABCB7	HP:0001252	Muscular hypotonia		HP:0040283		orphadata	ORPHA:2802
22	ABCB7	HP:0001251	Ataxia		HP:0040281		orphadata	ORPHA:2802
22	ABCB7	HP:0001263	Global developmental delay		HP:0040282		orphadata	ORPHA:2802
22	ABCB7	HP:0000486	Strabismus		HP:0040283		orphadata	ORPHA:2802
22	ABCB7	HP:0002650	Scoliosis		HP:0040283		orphadata	ORPHA:2802
22	ABCB7	HP:0001511	Intrauterine growth retardation		HP:0040283		orphadata	ORPHA:2802
8214	DGCR6	HP:0000278	Retrognathia			-	mim2gene	OMIM:192430
8214	DGCR6	HP:0000028	Cryptorchidism	3/38		-	mim2gene	OMIM:192430
8214	DGCR6	HP:0001155	Abnormality of the hand			-	mim2gene	OMIM:192430
8214	DGCR6	HP:0000829	Hypoparathyroidism	3/38		-	mim2gene	OMIM:192430
8214	DGCR6	HP:0000220	Velopharyngeal insufficiency	38/38		-	mim2gene	OMIM:192430
8214	DGCR6	HP:0001629	Ventricular septal defect			-	mim2gene	OMIM:192430
8214	DGCR6	HP:0002901	Hypocalcemia	5/38		-	mim2gene	OMIM:192430
8214	DGCR6	HP:0006549	Unilateral primary pulmonary dysgenesis			-	mim2gene	OMIM:192430
8214	DGCR6	HP:0001249	Intellectual disability	31/38		-	mim2gene	OMIM:192430
8214	DGCR6	HP:0000581	Blepharophimosis			-	mim2gene	OMIM:192430
8214	DGCR6	HP:0004935	Pulmonary artery atresia	2/16		-	mim2gene	OMIM:192430
8214	DGCR6	HP:0000414	Bulbous nose			-	mim2gene	OMIM:192430
8214	DGCR6	HP:0001636	Tetralogy of Fallot	3/16		-	mim2gene	OMIM:192430
8214	DGCR6	HP:0000252	Microcephaly			-	mim2gene	OMIM:192430
8214	DGCR6	HP:0011999	Paranoia			-	mim2gene	OMIM:192430
8214	DGCR6	HP:0000176	Submucous cleft hard palate	15/38		-	mim2gene	OMIM:192430
8214	DGCR6	HP:0000627	Posterior embryotoxon			-	mim2gene	OMIM:192430
8214	DGCR6	HP:0000720	Mood swings			-	mim2gene	OMIM:192430
8214	DGCR6	HP:0001252	Muscular hypotonia	29/38		-	mim2gene	OMIM:192430
8214	DGCR6	HP:0001328	Specific learning disability			-	mim2gene	OMIM:192430
8214	DGCR6	HP:0000023	Inguinal hernia	3/38		-	mim2gene	OMIM:192430
8214	DGCR6	HP:0001537	Umbilical hernia	2/38		-	mim2gene	OMIM:192430
8214	DGCR6	HP:0000194	Open mouth			-	mim2gene	OMIM:192430
8214	DGCR6	HP:0001611	Nasal speech			-	mim2gene	OMIM:192430
8214	DGCR6	HP:0004322	Short stature	24/38		-	mim2gene	OMIM:192430
8214	DGCR6	HP:0000201	Pierre-Robin sequence			-	mim2gene	OMIM:192430
8214	DGCR6	HP:0011590	Double aortic arch	1/16		-	mim2gene	OMIM:192430
8214	DGCR6	HP:0000718	Aggressive behavior			-	mim2gene	OMIM:192430
8214	DGCR6	HP:0011611	Interrupted aortic arch	2/16		-	mim2gene	OMIM:192430
8214	DGCR6	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:192430
8214	DGCR6	HP:0001883	Talipes	4/38		-	mim2gene	OMIM:192430
8214	DGCR6	HP:0005435	Impaired T cell function	2/38		-	mim2gene	OMIM:192430
8214	DGCR6	HP:0000430	Underdeveloped nasal alae			-	mim2gene	OMIM:192430
8214	DGCR6	HP:0045025	Narrow palpebral fissure			-	mim2gene	OMIM:192430
8214	DGCR6	HP:0002627	Right aortic arch with mirror image branching			-	mim2gene	OMIM:192430
8214	DGCR6	HP:0002719	Recurrent infections			-	mim2gene	OMIM:192430
8214	DGCR6	HP:0000598	Abnormality of the ear			-	mim2gene	OMIM:192430
8214	DGCR6	HP:0012841	Retinal vascular tortuosity			-	mim2gene	OMIM:192430
139285	AMER1	HP:0000239	Large fontanelles		HP:0040282		orphadata	ORPHA:2780
139285	AMER1	HP:0000248	Brachycephaly		HP:0040283		orphadata	ORPHA:2780
139285	AMER1	HP:0010628	Facial palsy		HP:0040283		orphadata	ORPHA:2780
139285	AMER1	HP:0100670	Rough bone trabeculation		HP:0040281		orphadata	ORPHA:2780
139285	AMER1	HP:0002381	Aphasia		HP:0040283		orphadata	ORPHA:2780
139285	AMER1	HP:0002007	Frontal bossing		HP:0040282		orphadata	ORPHA:2780
139285	AMER1	HP:0000684	Delayed eruption of teeth		HP:0040282		orphadata	ORPHA:2780
139285	AMER1	HP:0002705	High, narrow palate		HP:0040282		orphadata	ORPHA:2780
139285	AMER1	HP:0000176	Submucous cleft hard palate		HP:0040282		orphadata	ORPHA:2780
139285	AMER1	HP:0008808	High iliac wings		HP:0040281		orphadata	ORPHA:2780
139285	AMER1	HP:0011220	Prominent forehead		HP:0040282		orphadata	ORPHA:2780
139285	AMER1	HP:0000431	Wide nasal bridge		HP:0040282		orphadata	ORPHA:2780
139285	AMER1	HP:0002684	Thickened calvaria		HP:0040281		orphadata	ORPHA:2780
139285	AMER1	HP:0000193	Bifid uvula		HP:0040282		orphadata	ORPHA:2780
139285	AMER1	HP:0000278	Retrognathia		HP:0040283		orphadata	ORPHA:2780
139285	AMER1	HP:0000369	Low-set ears		HP:0040283		orphadata	ORPHA:2780
139285	AMER1	HP:0001328	Specific learning disability		HP:0040283		orphadata	ORPHA:2780
139285	AMER1	HP:0011002	Osteopetrosis		HP:0040281		orphadata	ORPHA:2780
139285	AMER1	HP:0000270	Delayed cranial suture closure		HP:0040282		orphadata	ORPHA:2780
139285	AMER1	HP:0000286	Epicanthus		HP:0040283		orphadata	ORPHA:2780
139285	AMER1	HP:0000944	Abnormality of the metaphysis		HP:0040281		orphadata	ORPHA:2780
139285	AMER1	HP:0003298	Spina bifida occulta		HP:0040283		orphadata	ORPHA:2780
139285	AMER1	HP:0000347	Micrognathia		HP:0040283		orphadata	ORPHA:2780
139285	AMER1	HP:0000358	Posteriorly rotated ears		HP:0040283		orphadata	ORPHA:2780
139285	AMER1	HP:0002300	Mutism		HP:0040283		orphadata	ORPHA:2780
139285	AMER1	HP:0001263	Global developmental delay		HP:0040283		orphadata	ORPHA:2780
139285	AMER1	HP:0002514	Cerebral calcification		HP:0040283		orphadata	ORPHA:2780
139285	AMER1	HP:0005465	Facial hyperostosis		HP:0040281		orphadata	ORPHA:2780
139285	AMER1	HP:0003510	Severe short stature		HP:0040283		orphadata	ORPHA:2780
139285	AMER1	HP:0001650	Aortic valve stenosis		HP:0040283		orphadata	ORPHA:2780
139285	AMER1	HP:0003307	Hyperlordosis		HP:0040283		orphadata	ORPHA:2780
139285	AMER1	HP:0012368	Flat face		HP:0040283		orphadata	ORPHA:2780
139285	AMER1	HP:0001680	Coarctation of aorta		HP:0040283		orphadata	ORPHA:2780
139285	AMER1	HP:0010529	Echolalia		HP:0040283		orphadata	ORPHA:2780
139285	AMER1	HP:0002357	Dysphasia		HP:0040283		orphadata	ORPHA:2780
139285	AMER1	HP:0008818	Large iliac wings		HP:0040281		orphadata	ORPHA:2780
139285	AMER1	HP:0000256	Macrocephaly		HP:0040282		orphadata	ORPHA:2780
139285	AMER1	HP:0002650	Scoliosis		HP:0040282		orphadata	ORPHA:2780
139285	AMER1	HP:0000405	Conductive hearing impairment		HP:0040282		orphadata	ORPHA:2780
139285	AMER1	HP:0001249	Intellectual disability		HP:0040283		orphadata	ORPHA:2780
139285	AMER1	HP:0000518	Cataract		HP:0040283		orphadata	ORPHA:2780
139285	AMER1	HP:0001555	Asymmetry of the thorax		HP:0040283		orphadata	ORPHA:2780
139285	AMER1	HP:0005469	Flat occiput		HP:0040282		orphadata	ORPHA:2780
139285	AMER1	HP:0000218	High palate	15%		-	mim2gene	OMIM:300373
139285	AMER1	HP:0000767	Pectus excavatum			-	mim2gene	OMIM:300373
139285	AMER1	HP:0000238	Hydrocephalus			-	mim2gene	OMIM:300373
139285	AMER1	HP:0005619	Thoracolumbar kyphosis			-	mim2gene	OMIM:300373
139285	AMER1	HP:0006587	Straight clavicles			-	mim2gene	OMIM:300373
139285	AMER1	HP:0003298	Spina bifida occulta			-	mim2gene	OMIM:300373
139285	AMER1	HP:0002779	Tracheomalacia			-	mim2gene	OMIM:300373
139285	AMER1	HP:0006610	Wide intermamillary distance			-	mim2gene	OMIM:300373
139285	AMER1	HP:0001508	Failure to thrive			-	mim2gene	OMIM:300373
139285	AMER1	HP:0000431	Wide nasal bridge			-	mim2gene	OMIM:300373
139285	AMER1	HP:0001166	Arachnodactyly			-	mim2gene	OMIM:300373
139285	AMER1	HP:0006784	Paranasal sinus hypoplasia			-	mim2gene	OMIM:300373
139285	AMER1	HP:0002025	Anal stenosis		HP:0040284	-	mim2gene	OMIM:300373
139285	AMER1	HP:0002694	Sclerosis of skull base			-	mim2gene	OMIM:300373
139285	AMER1	HP:0000405	Conductive hearing impairment			-	mim2gene	OMIM:300373
139285	AMER1	HP:0000239	Large fontanelles			-	mim2gene	OMIM:300373
139285	AMER1	HP:0000179	Thick lower lip vermilion			-	mim2gene	OMIM:300373
139285	AMER1	HP:0009473	Joint contracture of the hand			-	mim2gene	OMIM:300373
139285	AMER1	HP:0001762	Talipes equinovarus			-	mim2gene	OMIM:300373
139285	AMER1	HP:0002684	Thickened calvaria			-	mim2gene	OMIM:300373
139285	AMER1	HP:0000193	Bifid uvula			-	mim2gene	OMIM:300373
139285	AMER1	HP:0000885	Broad ribs			-	mim2gene	OMIM:300373
139285	AMER1	HP:0000201	Pierre-Robin sequence			-	mim2gene	OMIM:300373
139285	AMER1	HP:0010740	Osteopathia striata			-	mim2gene	OMIM:300373
139285	AMER1	HP:0001643	Patent ductus arteriosus			-	mim2gene	OMIM:300373
139285	AMER1	HP:0002020	Gastroesophageal reflux			-	mim2gene	OMIM:300373
139285	AMER1	HP:0005464	Craniofacial osteosclerosis			-	mim2gene	OMIM:300373
139285	AMER1	HP:0000750	Delayed speech and language development	10%		-	mim2gene	OMIM:300373
139285	AMER1	HP:0005830	Flexion contracture of toe			-	mim2gene	OMIM:300373
139285	AMER1	HP:0001561	Polyhydramnios			-	mim2gene	OMIM:300373
139285	AMER1	HP:0001476	Delayed closure of the anterior fontanelle			-	mim2gene	OMIM:300373
139285	AMER1	HP:0000347	Micrognathia			-	mim2gene	OMIM:300373
139285	AMER1	HP:0002104	Apnea			-	mim2gene	OMIM:300373
139285	AMER1	HP:0004322	Short stature			-	mim2gene	OMIM:300373
139285	AMER1	HP:0000396	Overfolded helix			-	mim2gene	OMIM:300373
139285	AMER1	HP:0000369	Low-set ears			-	mim2gene	OMIM:300373
139285	AMER1	HP:0001631	Atrial septal defect			-	mim2gene	OMIM:300373
139285	AMER1	HP:0000341	Narrow forehead			-	mim2gene	OMIM:300373
139285	AMER1	HP:0001562	Oligohydramnios			-	mim2gene	OMIM:300373
139285	AMER1	HP:0001629	Ventricular septal defect			-	mim2gene	OMIM:300373
139285	AMER1	HP:0002990	Fibular aplasia			-	mim2gene	OMIM:300373
139285	AMER1	HP:0000465	Webbed neck			-	mim2gene	OMIM:300373
139285	AMER1	HP:0000689	Dental malocclusion			-	mim2gene	OMIM:300373
139285	AMER1	HP:0002315	Headache		HP:0040283	-	mim2gene	OMIM:300373
139285	AMER1	HP:0012385	Camptodactyly			-	mim2gene	OMIM:300373
139285	AMER1	HP:0002023	Anal atresia		HP:0040284	-	mim2gene	OMIM:300373
139285	AMER1	HP:0008551	Microtia			-	mim2gene	OMIM:300373
139285	AMER1	HP:0000678	Dental crowding			-	mim2gene	OMIM:300373
139285	AMER1	HP:0000003	Multicystic kidney dysplasia		HP:0040284	-	mim2gene	OMIM:300373
139285	AMER1	HP:0000256	Macrocephaly			-	mim2gene	OMIM:300373
139285	AMER1	HP:0001539	Omphalocele		HP:0040284	-	mim2gene	OMIM:300373
139285	AMER1	HP:0001423	X-linked dominant inheritance			-	mim2gene	OMIM:300373
139285	AMER1	HP:0010628	Facial palsy			-	mim2gene	OMIM:300373
139285	AMER1	HP:0001250	Seizures			-	mim2gene	OMIM:300373
139285	AMER1	HP:0001290	Generalized hypotonia			-	mim2gene	OMIM:300373
139285	AMER1	HP:0002007	Frontal bossing			-	mim2gene	OMIM:300373
139285	AMER1	HP:0000695	Natal tooth			-	mim2gene	OMIM:300373
139285	AMER1	HP:0004209	Clinodactyly of the 5th finger			-	mim2gene	OMIM:300373
139285	AMER1	HP:0001256	Intellectual disability, mild		HP:0040282	-	mim2gene	OMIM:300373
139285	AMER1	HP:0001338	Partial agenesis of the corpus callosum			-	mim2gene	OMIM:300373
139285	AMER1	HP:0005950	Laryngeal web			-	mim2gene	OMIM:300373
139285	AMER1	HP:0001611	Nasal speech			-	mim2gene	OMIM:300373
139285	AMER1	HP:0003038	Fibular hypoplasia			-	mim2gene	OMIM:300373
139285	AMER1	HP:0000204	Cleft upper lip			-	mim2gene	OMIM:300373
139285	AMER1	HP:0002566	Intestinal malrotation			-	mim2gene	OMIM:300373
139285	AMER1	HP:0000316	Hypertelorism			-	mim2gene	OMIM:300373
139285	AMER1	HP:0000358	Posteriorly rotated ears			-	mim2gene	OMIM:300373
139285	AMER1	HP:0000286	Epicanthus			-	mim2gene	OMIM:300373
139285	AMER1	HP:0002650	Scoliosis	23%		-	mim2gene	OMIM:300373
8216	LZTR1	HP:0100008	Schwannoma			susceptibility	mim2gene	OMIM:615670
8216	LZTR1	HP:0003828	Variable expressivity			susceptibility	mim2gene	OMIM:615670
8216	LZTR1	HP:0000006	Autosomal dominant inheritance			susceptibility	mim2gene	OMIM:615670
8216	LZTR1	HP:0003829	Incomplete penetrance			susceptibility	mim2gene	OMIM:615670
8216	LZTR1	HP:0010302	Spinal cord tumor			susceptibility	mim2gene	OMIM:615670
8216	LZTR1	HP:0001641	Abnormal pulmonary valve morphology		HP:0040282		orphadata	ORPHA:648
8216	LZTR1	HP:0001743	Abnormality of the spleen		HP:0040282		orphadata	ORPHA:648
8216	LZTR1	HP:0011362	Abnormal hair quantity		HP:0040282		orphadata	ORPHA:648
8216	LZTR1	HP:0100625	Enlarged thorax		HP:0040281		orphadata	ORPHA:648
8216	LZTR1	HP:0001928	Abnormality of coagulation		HP:0040282		orphadata	ORPHA:648
8216	LZTR1	HP:0000465	Webbed neck		HP:0040281		orphadata	ORPHA:648
8216	LZTR1	HP:0000368	Low-set, posteriorly rotated ears		HP:0040281		orphadata	ORPHA:648
8216	LZTR1	HP:0000508	Ptosis		HP:0040281		orphadata	ORPHA:648
8216	LZTR1	HP:0000179	Thick lower lip vermilion		HP:0040281		orphadata	ORPHA:648
8216	LZTR1	HP:0001156	Brachydactyly		HP:0040283		orphadata	ORPHA:648
8216	LZTR1	HP:0011675	Arrhythmia		HP:0040282		orphadata	ORPHA:648
8216	LZTR1	HP:0000407	Sensorineural hearing impairment		HP:0040283		orphadata	ORPHA:648
8216	LZTR1	HP:0001004	Lymphedema		HP:0040283		orphadata	ORPHA:648
8216	LZTR1	HP:0001252	Muscular hypotonia		HP:0040282		orphadata	ORPHA:648
8216	LZTR1	HP:0004209	Clinodactyly of the 5th finger		HP:0040283		orphadata	ORPHA:648
8216	LZTR1	HP:0008872	Feeding difficulties in infancy		HP:0040282		orphadata	ORPHA:648
8216	LZTR1	HP:0005692	Joint hyperflexibility		HP:0040281		orphadata	ORPHA:648
8216	LZTR1	HP:0000476	Cystic hygroma		HP:0040281		orphadata	ORPHA:648
8216	LZTR1	HP:0002240	Hepatomegaly		HP:0040282		orphadata	ORPHA:648
8216	LZTR1	HP:0000520	Proptosis		HP:0040281		orphadata	ORPHA:648
8216	LZTR1	HP:0011869	Abnormal platelet function		HP:0040282		orphadata	ORPHA:648
8216	LZTR1	HP:0002650	Scoliosis		HP:0040282		orphadata	ORPHA:648
8216	LZTR1	HP:0002162	Low posterior hairline		HP:0040282		orphadata	ORPHA:648
8216	LZTR1	HP:0006610	Wide intermamillary distance		HP:0040281		orphadata	ORPHA:648
8216	LZTR1	HP:0000316	Hypertelorism		HP:0040281		orphadata	ORPHA:648
8216	LZTR1	HP:0000639	Nystagmus		HP:0040283		orphadata	ORPHA:648
8216	LZTR1	HP:0001260	Dysarthria		HP:0040281		orphadata	ORPHA:648
8216	LZTR1	HP:0001892	Abnormal bleeding		HP:0040282		orphadata	ORPHA:648
8216	LZTR1	HP:0000391	Thickened helices		HP:0040281		orphadata	ORPHA:648
8216	LZTR1	HP:0004415	Pulmonary artery stenosis		HP:0040281		orphadata	ORPHA:648
8216	LZTR1	HP:0004322	Short stature		HP:0040281		orphadata	ORPHA:648
8216	LZTR1	HP:0000486	Strabismus		HP:0040282		orphadata	ORPHA:648
8216	LZTR1	HP:0002974	Radioulnar synostosis		HP:0040283		orphadata	ORPHA:648
8216	LZTR1	HP:0002208	Coarse hair		HP:0040282		orphadata	ORPHA:648
8216	LZTR1	HP:0000768	Pectus carinatum		HP:0040281		orphadata	ORPHA:648
8216	LZTR1	HP:0011800	Midface retrusion		HP:0040281		orphadata	ORPHA:648
8216	LZTR1	HP:0000028	Cryptorchidism		HP:0040282		orphadata	ORPHA:648
8216	LZTR1	HP:0000348	High forehead		HP:0040281		orphadata	ORPHA:648
8216	LZTR1	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature		HP:0040281		orphadata	ORPHA:648
8216	LZTR1	HP:0000044	Hypogonadotrophic hypogonadism		HP:0040281		orphadata	ORPHA:648
8216	LZTR1	HP:0001324	Muscle weakness		HP:0040281		orphadata	ORPHA:648
8216	LZTR1	HP:0007477	Abnormal dermatoglyphics		HP:0040282		orphadata	ORPHA:648
8216	LZTR1	HP:0000767	Pectus excavatum		HP:0040281		orphadata	ORPHA:648
8216	LZTR1	HP:0000218	High palate		HP:0040281		orphadata	ORPHA:648
8216	LZTR1	HP:0000494	Downslanted palpebral fissures		HP:0040281		orphadata	ORPHA:648
8216	LZTR1	HP:0000995	Melanocytic nevus		HP:0040283		orphadata	ORPHA:648
8216	LZTR1	HP:0000474	Thickened nuchal skin fold		HP:0040281		orphadata	ORPHA:648
8216	LZTR1	HP:0002750	Delayed skeletal maturation		HP:0040282		orphadata	ORPHA:648
8216	LZTR1	HP:0011381	Aplasia of the semicircular canal		HP:0040283		orphadata	ORPHA:648
8216	LZTR1	HP:0000347	Micrognathia		HP:0040281		orphadata	ORPHA:648
8216	LZTR1	HP:0000325	Triangular face		HP:0040281		orphadata	ORPHA:648
8216	LZTR1	HP:0001671	Abnormal cardiac septum morphology			-	mim2gene	OMIM:616564
8216	LZTR1	HP:0000470	Short neck			-	mim2gene	OMIM:616564
8216	LZTR1	HP:0000766	Abnormality of the sternum			-	mim2gene	OMIM:616564
8216	LZTR1	HP:0001642	Pulmonic stenosis			-	mim2gene	OMIM:616564
8216	LZTR1	HP:0000316	Hypertelorism			-	mim2gene	OMIM:616564
8216	LZTR1	HP:0001680	Coarctation of aorta			-	mim2gene	OMIM:616564
8216	LZTR1	HP:0002212	Curly hair		HP:0040283	-	mim2gene	OMIM:616564
8216	LZTR1	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:616564
8216	LZTR1	HP:0004322	Short stature			-	mim2gene	OMIM:616564
8216	LZTR1	HP:0000028	Cryptorchidism			-	mim2gene	OMIM:616564
8216	LZTR1	HP:0001718	Mitral stenosis			-	mim2gene	OMIM:616564
8216	LZTR1	HP:0000535	Sparse and thin eyebrow		HP:0040283	-	mim2gene	OMIM:616564
8216	LZTR1	HP:0000508	Ptosis			-	mim2gene	OMIM:616564
8216	LZTR1	HP:0000494	Downslanted palpebral fissures			-	mim2gene	OMIM:616564
24	ABCA4	HP:0000510	Rod-cone dystrophy			-	mim2gene	OMIM:601718
24	ABCA4	HP:0000512	Abnormal electroretinogram			-	mim2gene	OMIM:601718
24	ABCA4	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:601718
24	ABCA4	HP:0007737	Bone spicule pigmentation of the retina			-	mim2gene	OMIM:601718
24	ABCA4	HP:0007663	Reduced visual acuity			-	mim2gene	OMIM:601718
24	ABCA4	HP:0007722	Retinal pigment epithelial atrophy			-	mim2gene	OMIM:601718
24	ABCA4	HP:0000662	Nyctalopia			-	mim2gene	OMIM:601718
24	ABCA4	HP:0007843	Attenuation of retinal blood vessels			-	mim2gene	OMIM:601718
24	ABCA4	HP:0000543	Optic disc pallor			-	mim2gene	OMIM:601718
24	ABCA4	HP:0001133	Constriction of peripheral visual field			-	mim2gene	OMIM:601718
24	ABCA4	HP:0000551	Color vision defect			-	mim2gene	OMIM:604116
24	ABCA4	HP:0000572	Visual loss			-	mim2gene	OMIM:604116
24	ABCA4	HP:0000548	Cone/cone-rod dystrophy			-	mim2gene	OMIM:604116
24	ABCA4	HP:0000603	Central scotoma			-	mim2gene	OMIM:604116
24	ABCA4	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:604116
24	ABCA4	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:604116
24	ABCA4	HP:0001419	X-linked recessive inheritance			-	mim2gene	OMIM:604116
24	ABCA4	HP:0000610	Abnormal choroid morphology		HP:0040281		orphadata	ORPHA:827
24	ABCA4	HP:0000603	Central scotoma		HP:0040281		orphadata	ORPHA:827
24	ABCA4	HP:0000608	Macular degeneration		HP:0040281		orphadata	ORPHA:827
24	ABCA4	HP:0000662	Nyctalopia		HP:0040281		orphadata	ORPHA:827
24	ABCA4	HP:0000493	Abnormal foveal morphology		HP:0040281		orphadata	ORPHA:827
24	ABCA4	HP:0007663	Reduced visual acuity		HP:0040280		orphadata	ORPHA:827
24	ABCA4	HP:0007722	Retinal pigment epithelial atrophy		HP:0040281		orphadata	ORPHA:827
24	ABCA4	HP:0000649	Abnormality of visual evoked potentials		HP:0040281		orphadata	ORPHA:827
24	ABCA4	HP:0008002	Abnormality of macular pigmentation		HP:0040281		orphadata	ORPHA:827
24	ABCA4	HP:0008059	Aplasia/Hypoplasia of the macula		HP:0040282		orphadata	ORPHA:827
24	ABCA4	HP:0000551	Color vision defect		HP:0040281		orphadata	ORPHA:827
24	ABCA4	HP:0030329	Retinal thinning		HP:0040281		orphadata	ORPHA:827
24	ABCA4	HP:0007704	Paroxysmal involuntary eye movements		HP:0040281		orphadata	ORPHA:827
24	ABCA4	HP:0007814	Retinal pigment epithelial mottling		HP:0040281		orphadata	ORPHA:827
24	ABCA4	HP:0030500	Yellow/white lesions of the macula		HP:0040282		orphadata	ORPHA:827
24	ABCA4	HP:0000613	Photophobia		HP:0040281		orphadata	ORPHA:1872
24	ABCA4	HP:0007703	Abnormality of retinal pigmentation		HP:0040281		orphadata	ORPHA:1872
24	ABCA4	HP:0000505	Visual impairment		HP:0040283		orphadata	ORPHA:1872
24	ABCA4	HP:0000551	Color vision defect		HP:0040282		orphadata	ORPHA:1872
24	ABCA4	HP:0000662	Nyctalopia		HP:0040281		orphadata	ORPHA:1872
24	ABCA4	HP:0011504	Bull's eye maculopathy	15/15		-	mim2gene	OMIM:248200
24	ABCA4	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:248200
24	ABCA4	HP:0000608	Macular degeneration			-	mim2gene	OMIM:248200
24	ABCA4	HP:0008035	Retinitis pigmentosa inversa			-	mim2gene	OMIM:248200
24	ABCA4	HP:0001347	Hyperreflexia		HP:0040283		orphadata	ORPHA:791
24	ABCA4	HP:0000987	Atypical scarring of skin		HP:0040281		orphadata	ORPHA:791
24	ABCA4	HP:0000405	Conductive hearing impairment		HP:0040281		orphadata	ORPHA:791
24	ABCA4	HP:0000639	Nystagmus		HP:0040281		orphadata	ORPHA:791
24	ABCA4	HP:0000648	Optic atrophy		HP:0040281		orphadata	ORPHA:791
24	ABCA4	HP:0008736	Hypoplasia of penis		HP:0040281		orphadata	ORPHA:791
24	ABCA4	HP:0000512	Abnormal electroretinogram		HP:0040281		orphadata	ORPHA:791
24	ABCA4	HP:0000518	Cataract		HP:0040282		orphadata	ORPHA:791
24	ABCA4	HP:0007675	Progressive night blindness		HP:0040281		orphadata	ORPHA:791
24	ABCA4	HP:0000501	Glaucoma		HP:0040282		orphadata	ORPHA:791
24	ABCA4	HP:0005978	Type II diabetes mellitus		HP:0040283		orphadata	ORPHA:791
24	ABCA4	HP:0007703	Abnormality of retinal pigmentation		HP:0040281		orphadata	ORPHA:791
24	ABCA4	HP:0000618	Blindness		HP:0040281		orphadata	ORPHA:791
24	ABCA4	HP:0000602	Ophthalmoplegia		HP:0040282		orphadata	ORPHA:791
24	ABCA4	HP:0000613	Photophobia		HP:0040281		orphadata	ORPHA:791
24	ABCA4	HP:0000463	Anteverted nares		HP:0040281		orphadata	ORPHA:791
24	ABCA4	HP:0000135	Hypogonadism		HP:0040281		orphadata	ORPHA:791
24	ABCA4	HP:0001249	Intellectual disability		HP:0040281		orphadata	ORPHA:791
24	ABCA4	HP:0000563	Keratoconus		HP:0040282		orphadata	ORPHA:791
24	ABCA4	HP:0000407	Sensorineural hearing impairment		HP:0040281		orphadata	ORPHA:791
24	ABCA4	HP:0001513	Obesity		HP:0040282		orphadata	ORPHA:791
24	ABCA4	HP:0000431	Wide nasal bridge		HP:0040281		orphadata	ORPHA:791
24	ABCA4	HP:0008046	Abnormal retinal vascular morphology		HP:0040281		orphadata	ORPHA:791
24	ABCA4	HP:0000842	Hyperinsulinemia		HP:0040282		orphadata	ORPHA:791
24	ABCA4	HP:0000035	Abnormal testis morphology		HP:0040281		orphadata	ORPHA:791
24	ABCA4	HP:0000608	Macular degeneration			susceptibility	mim2gene	OMIM:153800
24	ABCA4	HP:0000006	Autosomal dominant inheritance			susceptibility	mim2gene	OMIM:153800
25	ABL1	HP:0001894	Thrombocytosis		HP:0040282		orphadata	ORPHA:521
25	ABL1	HP:0001744	Splenomegaly		HP:0040282		orphadata	ORPHA:521
25	ABL1	HP:0012378	Fatigue		HP:0040282		orphadata	ORPHA:521
25	ABL1	HP:0001945	Fever		HP:0040282		orphadata	ORPHA:521
25	ABL1	HP:0005547	Myeloproliferative disorder		HP:0040280		orphadata	ORPHA:521
25	ABL1	HP:0001974	Leukocytosis		HP:0040282		orphadata	ORPHA:521
25	ABL1	HP:0004396	Poor appetite		HP:0040282		orphadata	ORPHA:521
25	ABL1	HP:0001873	Thrombocytopenia		HP:0040282		orphadata	ORPHA:521
25	ABL1	HP:0001912	Abnormal basophil morphology		HP:0040282		orphadata	ORPHA:521
25	ABL1	HP:0001428	Somatic mutation			-	mim2gene	OMIM:608232
25	ABL1	HP:0004848	Ph-positive acute lymphoblastic leukemia			-	mim2gene	OMIM:608232
25	ABL1	HP:0005506	Chronic myelogenous leukemia			-	mim2gene	OMIM:608232
25	ABL1	HP:0004852	Reduced leukocyte alkaline phosphatase			-	mim2gene	OMIM:608232
25	ABL1	HP:0000218	High palate			-	mim2gene	OMIM:617602
25	ABL1	HP:0001166	Arachnodactyly		HP:0040284	-	mim2gene	OMIM:617602
25	ABL1	HP:0001508	Failure to thrive			-	mim2gene	OMIM:617602
25	ABL1	HP:0000965	Cutis marmorata			-	mim2gene	OMIM:617602
25	ABL1	HP:0012385	Camptodactyly			-	mim2gene	OMIM:617602
25	ABL1	HP:0000337	Broad forehead			-	mim2gene	OMIM:617602
25	ABL1	HP:0000776	Congenital diaphragmatic hernia			-	mim2gene	OMIM:617602
25	ABL1	HP:0000678	Dental crowding			-	mim2gene	OMIM:617602
25	ABL1	HP:0002010	Narrow maxilla			-	mim2gene	OMIM:617602
25	ABL1	HP:0000307	Pointed chin			-	mim2gene	OMIM:617602
25	ABL1	HP:0002566	Intestinal malrotation		HP:0040284	-	mim2gene	OMIM:617602
25	ABL1	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:617602
25	ABL1	HP:0002023	Anal atresia		HP:0040284	-	mim2gene	OMIM:617602
25	ABL1	HP:0000963	Thin skin			-	mim2gene	OMIM:617602
25	ABL1	HP:0001511	Intrauterine growth retardation		HP:0040284	-	mim2gene	OMIM:617602
25	ABL1	HP:0040019	Finger clinodactyly			-	mim2gene	OMIM:617602
25	ABL1	HP:0002107	Pneumothorax			-	mim2gene	OMIM:617602
25	ABL1	HP:0001631	Atrial septal defect			-	mim2gene	OMIM:617602
25	ABL1	HP:0001680	Coarctation of aorta		HP:0040284	-	mim2gene	OMIM:617602
25	ABL1	HP:0000460	Narrow nose			-	mim2gene	OMIM:617602
25	ABL1	HP:0001763	Pes planus			-	mim2gene	OMIM:617602
25	ABL1	HP:0002019	Constipation			-	mim2gene	OMIM:617602
25	ABL1	HP:0002650	Scoliosis			-	mim2gene	OMIM:617602
25	ABL1	HP:0003189	Long nose			-	mim2gene	OMIM:617602
25	ABL1	HP:0000047	Hypospadias			-	mim2gene	OMIM:617602
25	ABL1	HP:0000670	Carious teeth			-	mim2gene	OMIM:617602
25	ABL1	HP:0000028	Cryptorchidism		HP:0040284	-	mim2gene	OMIM:617602
25	ABL1	HP:0001629	Ventricular septal defect			-	mim2gene	OMIM:617602
25	ABL1	HP:0000331	Short chin			-	mim2gene	OMIM:617602
25	ABL1	HP:0003196	Short nose			-	mim2gene	OMIM:617602
25	ABL1	HP:0000767	Pectus excavatum			-	mim2gene	OMIM:617602
25	ABL1	HP:0004322	Short stature			-	mim2gene	OMIM:617602
25	ABL1	HP:0000977	Soft skin			-	mim2gene	OMIM:617602
25	ABL1	HP:0000490	Deeply set eye			-	mim2gene	OMIM:617602
25	ABL1	HP:0001263	Global developmental delay		HP:0040284	-	mim2gene	OMIM:617602
8220	ESS2	HP:0000278	Retrognathia			-	mim2gene	OMIM:192430
8220	ESS2	HP:0000028	Cryptorchidism	3/38		-	mim2gene	OMIM:192430
8220	ESS2	HP:0001155	Abnormality of the hand			-	mim2gene	OMIM:192430
8220	ESS2	HP:0000829	Hypoparathyroidism	3/38		-	mim2gene	OMIM:192430
8220	ESS2	HP:0000220	Velopharyngeal insufficiency	38/38		-	mim2gene	OMIM:192430
8220	ESS2	HP:0001629	Ventricular septal defect			-	mim2gene	OMIM:192430
8220	ESS2	HP:0002901	Hypocalcemia	5/38		-	mim2gene	OMIM:192430
8220	ESS2	HP:0006549	Unilateral primary pulmonary dysgenesis			-	mim2gene	OMIM:192430
8220	ESS2	HP:0001249	Intellectual disability	31/38		-	mim2gene	OMIM:192430
8220	ESS2	HP:0000581	Blepharophimosis			-	mim2gene	OMIM:192430
8220	ESS2	HP:0004935	Pulmonary artery atresia	2/16		-	mim2gene	OMIM:192430
8220	ESS2	HP:0000414	Bulbous nose			-	mim2gene	OMIM:192430
8220	ESS2	HP:0001636	Tetralogy of Fallot	3/16		-	mim2gene	OMIM:192430
8220	ESS2	HP:0000252	Microcephaly			-	mim2gene	OMIM:192430
8220	ESS2	HP:0011999	Paranoia			-	mim2gene	OMIM:192430
8220	ESS2	HP:0000176	Submucous cleft hard palate	15/38		-	mim2gene	OMIM:192430
8220	ESS2	HP:0000627	Posterior embryotoxon			-	mim2gene	OMIM:192430
8220	ESS2	HP:0000720	Mood swings			-	mim2gene	OMIM:192430
8220	ESS2	HP:0001252	Muscular hypotonia	29/38		-	mim2gene	OMIM:192430
8220	ESS2	HP:0001328	Specific learning disability			-	mim2gene	OMIM:192430
8220	ESS2	HP:0000023	Inguinal hernia	3/38		-	mim2gene	OMIM:192430
8220	ESS2	HP:0001537	Umbilical hernia	2/38		-	mim2gene	OMIM:192430
8220	ESS2	HP:0000194	Open mouth			-	mim2gene	OMIM:192430
8220	ESS2	HP:0001611	Nasal speech			-	mim2gene	OMIM:192430
8220	ESS2	HP:0004322	Short stature	24/38		-	mim2gene	OMIM:192430
8220	ESS2	HP:0000201	Pierre-Robin sequence			-	mim2gene	OMIM:192430
8220	ESS2	HP:0011590	Double aortic arch	1/16		-	mim2gene	OMIM:192430
8220	ESS2	HP:0000718	Aggressive behavior			-	mim2gene	OMIM:192430
8220	ESS2	HP:0011611	Interrupted aortic arch	2/16		-	mim2gene	OMIM:192430
8220	ESS2	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:192430
8220	ESS2	HP:0001883	Talipes	4/38		-	mim2gene	OMIM:192430
8220	ESS2	HP:0005435	Impaired T cell function	2/38		-	mim2gene	OMIM:192430
8220	ESS2	HP:0000430	Underdeveloped nasal alae			-	mim2gene	OMIM:192430
8220	ESS2	HP:0045025	Narrow palpebral fissure			-	mim2gene	OMIM:192430
8220	ESS2	HP:0002627	Right aortic arch with mirror image branching			-	mim2gene	OMIM:192430
8220	ESS2	HP:0002719	Recurrent infections			-	mim2gene	OMIM:192430
8220	ESS2	HP:0000598	Abnormality of the ear			-	mim2gene	OMIM:192430
8220	ESS2	HP:0012841	Retinal vascular tortuosity			-	mim2gene	OMIM:192430
31	ACACA	HP:0003198	Myopathy			-	mim2gene	OMIM:613933
31	ACACA	HP:0001290	Generalized hypotonia			-	mim2gene	OMIM:613933
31	ACACA	HP:0001510	Growth delay			-	mim2gene	OMIM:613933
31	ACACA	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:613933
33	ACADL	HP:0011968	Feeding difficulties		HP:0040282		orphadata	ORPHA:99900
33	ACADL	HP:0003215	Dicarboxylic aciduria		HP:0040282		orphadata	ORPHA:99900
33	ACADL	HP:0001639	Hypertrophic cardiomyopathy		HP:0040282		orphadata	ORPHA:99900
33	ACADL	HP:0001254	Lethargy		HP:0040282		orphadata	ORPHA:99900
33	ACADL	HP:0003234	Decreased plasma carnitine		HP:0040282		orphadata	ORPHA:99900
33	ACADL	HP:0001404	Hepatocellular necrosis		HP:0040282		orphadata	ORPHA:99900
33	ACADL	HP:0003326	Myalgia		HP:0040282		orphadata	ORPHA:99900
33	ACADL	HP:0008331	Elevated creatine kinase after exercise		HP:0040282		orphadata	ORPHA:99900
33	ACADL	HP:0000729	Autistic behavior		HP:0040284		orphadata	ORPHA:99900
33	ACADL	HP:0009045	Exercise-induced rhabdomyolysis		HP:0040282		orphadata	ORPHA:99900
33	ACADL	HP:0011346	Mild expressive language delay		HP:0040282		orphadata	ORPHA:99900
33	ACADL	HP:0002789	Tachypnea		HP:0040282		orphadata	ORPHA:99900
33	ACADL	HP:0001645	Sudden cardiac death		HP:0040283		orphadata	ORPHA:99900
33	ACADL	HP:0100950	Decreased activity of 3-hydroxyacyl-CoA dehydrogenase		HP:0040281		orphadata	ORPHA:99900
33	ACADL	HP:0003552	Muscle stiffness		HP:0040282		orphadata	ORPHA:99900
33	ACADL	HP:0001290	Generalized hypotonia		HP:0040282		orphadata	ORPHA:99900
33	ACADL	HP:0003458	EMG: myopathic abnormalities		HP:0040282		orphadata	ORPHA:99900
33	ACADL	HP:0001987	Hyperammonemia		HP:0040284		orphadata	ORPHA:99900
33	ACADL	HP:0001397	Hepatic steatosis		HP:0040282		orphadata	ORPHA:99900
33	ACADL	HP:0003473	Fatigable weakness		HP:0040282		orphadata	ORPHA:99900
33	ACADL	HP:0002013	Vomiting		HP:0040282		orphadata	ORPHA:99900
33	ACADL	HP:0003324	Generalized muscle weakness		HP:0040282		orphadata	ORPHA:99900
33	ACADL	HP:0004749	Atrial flutter		HP:0040284		orphadata	ORPHA:99900
33	ACADL	HP:0002240	Hepatomegaly		HP:0040282		orphadata	ORPHA:99900
33	ACADL	HP:0006579	Prolonged neonatal jaundice		HP:0040283		orphadata	ORPHA:99900
33	ACADL	HP:0001958	Nonketotic hypoglycemia		HP:0040283		orphadata	ORPHA:99900
33	ACADL	HP:0008305	Exercise-induced myoglobinuria		HP:0040282		orphadata	ORPHA:99900
33	ACADL	HP:0002045	Hypothermia		HP:0040283		orphadata	ORPHA:99900
33	ACADL	HP:0001657	Prolonged QT interval		HP:0040284		orphadata	ORPHA:99900
34	ACADM	HP:0001397	Hepatic steatosis			-	mim2gene	OMIM:201450
34	ACADM	HP:0001290	Generalized hypotonia			-	mim2gene	OMIM:201450
34	ACADM	HP:0001250	Seizures			-	mim2gene	OMIM:201450
34	ACADM	HP:0002240	Hepatomegaly			-	mim2gene	OMIM:201450
34	ACADM	HP:0002910	Elevated hepatic transaminase			-	mim2gene	OMIM:201450
34	ACADM	HP:0003234	Decreased plasma carnitine			-	mim2gene	OMIM:201450
34	ACADM	HP:0001252	Muscular hypotonia			-	mim2gene	OMIM:201450
34	ACADM	HP:0001254	Lethargy			-	mim2gene	OMIM:201450
34	ACADM	HP:0001263	Global developmental delay			-	mim2gene	OMIM:201450
34	ACADM	HP:0001942	Metabolic acidosis			-	mim2gene	OMIM:201450
34	ACADM	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:201450
34	ACADM	HP:0003108	Hyperglycinuria			-	mim2gene	OMIM:201450
34	ACADM	HP:0001942	Metabolic acidosis			-	mim2gene	OMIM:201450
34	ACADM	HP:0001943	Hypoglycemia			-	mim2gene	OMIM:201450
34	ACADM	HP:0002013	Vomiting			-	mim2gene	OMIM:201450
34	ACADM	HP:0001259	Coma			-	mim2gene	OMIM:201450
34	ACADM	HP:0002181	Cerebral edema			-	mim2gene	OMIM:201450
34	ACADM	HP:0008309	Medium chain dicarboxylic aciduria			-	mim2gene	OMIM:201450
34	ACADM	HP:0002240	Hepatomegaly		HP:0040282		orphadata	ORPHA:42
34	ACADM	HP:0001946	Ketosis		HP:0040283		orphadata	ORPHA:42
34	ACADM	HP:0000750	Delayed speech and language development		HP:0040283		orphadata	ORPHA:42
34	ACADM	HP:0002910	Elevated hepatic transaminase		HP:0040283		orphadata	ORPHA:42
34	ACADM	HP:0003738	Exercise-induced myalgia		HP:0040282		orphadata	ORPHA:42
34	ACADM	HP:0001397	Hepatic steatosis		HP:0040283		orphadata	ORPHA:42
34	ACADM	HP:0001254	Lethargy		HP:0040283		orphadata	ORPHA:42
34	ACADM	HP:0003202	Skeletal muscle atrophy		HP:0040283		orphadata	ORPHA:42
34	ACADM	HP:0001259	Coma		HP:0040283		orphadata	ORPHA:42
34	ACADM	HP:0002373	Febrile seizures		HP:0040283		orphadata	ORPHA:42
34	ACADM	HP:0001987	Hyperammonemia		HP:0040282		orphadata	ORPHA:42
34	ACADM	HP:0005684	Distal arthrogryposis		HP:0040283		orphadata	ORPHA:42
34	ACADM	HP:0001410	Decreased liver function		HP:0040282		orphadata	ORPHA:42
34	ACADM	HP:0030199	Fatigable weakness of neck muscles		HP:0040282		orphadata	ORPHA:42
34	ACADM	HP:0003215	Dicarboxylic aciduria		HP:0040282		orphadata	ORPHA:42
34	ACADM	HP:0007185	Loss of consciousness		HP:0040283		orphadata	ORPHA:42
34	ACADM	HP:0001252	Muscular hypotonia		HP:0040282		orphadata	ORPHA:42
34	ACADM	HP:0003394	Muscle spasm		HP:0040283		orphadata	ORPHA:42
34	ACADM	HP:0040155	Elevated urinary 3-hydroxybutyric acid		HP:0040283		orphadata	ORPHA:42
34	ACADM	HP:0002069	Generalized tonic-clonic seizures		HP:0040283		orphadata	ORPHA:42
34	ACADM	HP:0001315	Reduced tendon reflexes		HP:0040282		orphadata	ORPHA:42
34	ACADM	HP:0002014	Diarrhea		HP:0040283		orphadata	ORPHA:42
34	ACADM	HP:0003198	Myopathy		HP:0040283		orphadata	ORPHA:42
34	ACADM	HP:0001251	Ataxia		HP:0040283		orphadata	ORPHA:42
34	ACADM	HP:0002013	Vomiting		HP:0040282		orphadata	ORPHA:42
34	ACADM	HP:0003701	Proximal muscle weakness		HP:0040282		orphadata	ORPHA:42
34	ACADM	HP:0012378	Fatigue		HP:0040283		orphadata	ORPHA:42
34	ACADM	HP:0004326	Cachexia		HP:0040283		orphadata	ORPHA:42
34	ACADM	HP:0001943	Hypoglycemia		HP:0040283		orphadata	ORPHA:42
34	ACADM	HP:0011936	Decreased plasma total carnitine		HP:0040282		orphadata	ORPHA:42
34	ACADM	HP:0001640	Cardiomegaly		HP:0040283		orphadata	ORPHA:42
34	ACADM	HP:0011675	Arrhythmia		HP:0040283		orphadata	ORPHA:42
34	ACADM	HP:0003236	Elevated serum creatine kinase		HP:0040283		orphadata	ORPHA:42
34	ACADM	HP:0045040	Abnormal lactate dehydrogenase activity		HP:0040283		orphadata	ORPHA:42
34	ACADM	HP:0000256	Macrocephaly		HP:0040283		orphadata	ORPHA:42
34	ACADM	HP:0002875	Exertional dyspnea		HP:0040283		orphadata	ORPHA:42
35	ACADS	HP:0001252	Muscular hypotonia			-	mim2gene	OMIM:201470
35	ACADS	HP:0001371	Flexion contracture			-	mim2gene	OMIM:201470
35	ACADS	HP:0001508	Failure to thrive			-	mim2gene	OMIM:201470
35	ACADS	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:201470
35	ACADS	HP:0003623	Neonatal onset			-	mim2gene	OMIM:201470
35	ACADS	HP:0008872	Feeding difficulties in infancy			-	mim2gene	OMIM:201470
35	ACADS	HP:0001263	Global developmental delay			-	mim2gene	OMIM:201470
35	ACADS	HP:0002650	Scoliosis			-	mim2gene	OMIM:201470
35	ACADS	HP:0001254	Lethargy			-	mim2gene	OMIM:201470
35	ACADS	HP:0001250	Seizures			-	mim2gene	OMIM:201470
35	ACADS	HP:0001638	Cardiomyopathy			-	mim2gene	OMIM:201470
35	ACADS	HP:0002500	Abnormality of the cerebral white matter			-	mim2gene	OMIM:201470
35	ACADS	HP:0001290	Generalized hypotonia			-	mim2gene	OMIM:201470
35	ACADS	HP:0010628	Facial palsy			-	mim2gene	OMIM:201470
35	ACADS	HP:0003198	Myopathy			-	mim2gene	OMIM:201470
35	ACADS	HP:0000709	Psychosis			-	mim2gene	OMIM:201470
35	ACADS	HP:0003219	Ethylmalonic aciduria			-	mim2gene	OMIM:201470
35	ACADS	HP:0000590	Progressive external ophthalmoplegia		HP:0040283	-	mim2gene	OMIM:201470
35	ACADS	HP:0004911	Episodic metabolic acidosis			-	mim2gene	OMIM:201470
35	ACADS	HP:0000750	Delayed speech and language development			-	mim2gene	OMIM:201470
57379	AICDA	HP:0002720	Decreased circulating IgA level			-	mim2gene	OMIM:605258
57379	AICDA	HP:0004798	Recurrent infection of the gastrointestinal tract			-	mim2gene	OMIM:605258
57379	AICDA	HP:0200117	Recurrent upper and lower respiratory tract infections			-	mim2gene	OMIM:605258
57379	AICDA	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:605258
57379	AICDA	HP:0002716	Lymphadenopathy			-	mim2gene	OMIM:605258
57379	AICDA	HP:0002718	Recurrent bacterial infections			-	mim2gene	OMIM:605258
57379	AICDA	HP:0004315	Decreased circulating IgG level			-	mim2gene	OMIM:605258
57379	AICDA	HP:0002959	Impaired Ig class switch recombination			-	mim2gene	OMIM:605258
57379	AICDA	HP:0002721	Immunodeficiency			-	mim2gene	OMIM:605258
36	ACADSB	HP:0002045	Hypothermia			-	mim2gene	OMIM:610006
36	ACADSB	HP:0001254	Lethargy			-	mim2gene	OMIM:610006
36	ACADSB	HP:0000577	Exotropia			-	mim2gene	OMIM:610006
36	ACADSB	HP:0001943	Hypoglycemia			-	mim2gene	OMIM:610006
36	ACADSB	HP:0003593	Infantile onset			-	mim2gene	OMIM:610006
36	ACADSB	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:610006
36	ACADSB	HP:0001252	Muscular hypotonia			-	mim2gene	OMIM:610006
36	ACADSB	HP:0003700	Generalized amyotrophy			-	mim2gene	OMIM:610006
36	ACADSB	HP:0000252	Microcephaly			-	mim2gene	OMIM:610006
36	ACADSB	HP:0001250	Seizures			-	mim2gene	OMIM:610006
36	ACADSB	HP:0001270	Motor delay			-	mim2gene	OMIM:610006
36	ACADSB	HP:0001263	Global developmental delay			-	mim2gene	OMIM:610006
36	ACADSB	HP:0001290	Generalized hypotonia			-	mim2gene	OMIM:610006
36	ACADSB	HP:0005949	Apneic episodes in infancy			-	mim2gene	OMIM:610006
37	ACADVL	HP:0001404	Hepatocellular necrosis			-	mim2gene	OMIM:201475
37	ACADVL	HP:0001290	Generalized hypotonia			-	mim2gene	OMIM:201475
37	ACADVL	HP:0001645	Sudden cardiac death			-	mim2gene	OMIM:201475
37	ACADVL	HP:0001639	Hypertrophic cardiomyopathy			-	mim2gene	OMIM:201475
37	ACADVL	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:201475
37	ACADVL	HP:0002013	Vomiting			-	mim2gene	OMIM:201475
37	ACADVL	HP:0001252	Muscular hypotonia			-	mim2gene	OMIM:201475
37	ACADVL	HP:0001324	Muscle weakness			-	mim2gene	OMIM:201475
37	ACADVL	HP:0003552	Muscle stiffness			-	mim2gene	OMIM:201475
37	ACADVL	HP:0009045	Exercise-induced rhabdomyolysis			-	mim2gene	OMIM:201475
37	ACADVL	HP:0003234	Decreased plasma carnitine			-	mim2gene	OMIM:201475
37	ACADVL	HP:0001254	Lethargy			-	mim2gene	OMIM:201475
37	ACADVL	HP:0003738	Exercise-induced myalgia			-	mim2gene	OMIM:201475
37	ACADVL	HP:0003215	Dicarboxylic aciduria			-	mim2gene	OMIM:201475
37	ACADVL	HP:0002240	Hepatomegaly			-	mim2gene	OMIM:201475
37	ACADVL	HP:0001958	Nonketotic hypoglycemia			-	mim2gene	OMIM:201475
37	ACADVL	HP:0008305	Exercise-induced myoglobinuria			-	mim2gene	OMIM:201475
37	ACADVL	HP:0001397	Hepatic steatosis			-	mim2gene	OMIM:201475
37	ACADVL	HP:0002789	Tachypnea			-	mim2gene	OMIM:201475
37	ACADVL	HP:0003236	Elevated serum creatine kinase			-	mim2gene	OMIM:201475
37	ACADVL	HP:0001698	Pericardial effusion		HP:0040284		orphadata	ORPHA:26793
37	ACADVL	HP:0011968	Feeding difficulties		HP:0040283		orphadata	ORPHA:26793
37	ACADVL	HP:0001678	Atrioventricular block		HP:0040284		orphadata	ORPHA:26793
37	ACADVL	HP:0001985	Hypoketotic hypoglycemia		HP:0040283		orphadata	ORPHA:26793
37	ACADVL	HP:0001987	Hyperammonemia		HP:0040284		orphadata	ORPHA:26793
37	ACADVL	HP:0012531	Pain		HP:0040284		orphadata	ORPHA:26793
37	ACADVL	HP:0000952	Jaundice		HP:0040283		orphadata	ORPHA:26793
37	ACADVL	HP:0001545	Anteriorly placed anus		HP:0040284		orphadata	ORPHA:26793
37	ACADVL	HP:0001513	Obesity		HP:0040284		orphadata	ORPHA:26793
37	ACADVL	HP:0000256	Macrocephaly		HP:0040284		orphadata	ORPHA:26793
37	ACADVL	HP:0002876	Episodic tachypnea		HP:0040283		orphadata	ORPHA:26793
37	ACADVL	HP:0001629	Ventricular septal defect		HP:0040283		orphadata	ORPHA:26793
37	ACADVL	HP:0001663	Ventricular fibrillation		HP:0040284		orphadata	ORPHA:26793
37	ACADVL	HP:0003394	Muscle spasm		HP:0040284		orphadata	ORPHA:26793
37	ACADVL	HP:0001518	Small for gestational age		HP:0040283		orphadata	ORPHA:26793
37	ACADVL	HP:0002240	Hepatomegaly		HP:0040283		orphadata	ORPHA:26793
37	ACADVL	HP:0004756	Ventricular tachycardia		HP:0040284		orphadata	ORPHA:26793
37	ACADVL	HP:0025502	Overweight		HP:0040283		orphadata	ORPHA:26793
37	ACADVL	HP:0003075	Hypoproteinemia		HP:0040284		orphadata	ORPHA:26793
37	ACADVL	HP:0003236	Elevated serum creatine kinase		HP:0040283		orphadata	ORPHA:26793
37	ACADVL	HP:0001254	Lethargy		HP:0040284		orphadata	ORPHA:26793
37	ACADVL	HP:0001657	Prolonged QT interval		HP:0040284		orphadata	ORPHA:26793
37	ACADVL	HP:0001942	Metabolic acidosis		HP:0040284		orphadata	ORPHA:26793
37	ACADVL	HP:0030781	Increased circulating free fatty acid level		HP:0040282		orphadata	ORPHA:26793
37	ACADVL	HP:0002045	Hypothermia		HP:0040283		orphadata	ORPHA:26793
37	ACADVL	HP:0002090	Pneumonia		HP:0040284		orphadata	ORPHA:26793
37	ACADVL	HP:0009045	Exercise-induced rhabdomyolysis		HP:0040283		orphadata	ORPHA:26793
37	ACADVL	HP:0002910	Elevated hepatic transaminase		HP:0040283		orphadata	ORPHA:26793
37	ACADVL	HP:0008947	Infantile muscular hypotonia		HP:0040284		orphadata	ORPHA:26793
37	ACADVL	HP:0002901	Hypocalcemia		HP:0040284		orphadata	ORPHA:26793
37	ACADVL	HP:0011123	Inflammatory abnormality of the skin		HP:0040284		orphadata	ORPHA:26793
37	ACADVL	HP:0002013	Vomiting		HP:0040284		orphadata	ORPHA:26793
37	ACADVL	HP:0002098	Respiratory distress		HP:0040283		orphadata	ORPHA:26793
37	ACADVL	HP:0001655	Patent foramen ovale		HP:0040283		orphadata	ORPHA:26793
37	ACADVL	HP:0002280	Enlarged cisterna magna		HP:0040284		orphadata	ORPHA:26793
37	ACADVL	HP:0001644	Dilated cardiomyopathy		HP:0040284		orphadata	ORPHA:26793
147495	APCDD1	HP:0000653	Sparse eyelashes		HP:0040281		orphadata	ORPHA:55654
147495	APCDD1	HP:0001596	Alopecia		HP:0040281		orphadata	ORPHA:55654
147495	APCDD1	HP:0000535	Sparse and thin eyebrow		HP:0040281		orphadata	ORPHA:55654
147495	APCDD1	HP:0002231	Sparse body hair		HP:0040281		orphadata	ORPHA:55654
147495	APCDD1	HP:0004782	Hypotrichosis of the scalp		HP:0040281		orphadata	ORPHA:55654
147495	APCDD1	HP:0002231	Sparse body hair			-	mim2gene	OMIM:605389
147495	APCDD1	HP:0001006	Hypotrichosis		HP:0040280	-	mim2gene	OMIM:605389
147495	APCDD1	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:605389
147495	APCDD1	HP:0045075	Sparse eyebrow		HP:0040284	-	mim2gene	OMIM:605389
147495	APCDD1	HP:0002215	Sparse axillary hair		HP:0040284	-	mim2gene	OMIM:605389
147495	APCDD1	HP:0002225	Sparse pubic hair		HP:0040284	-	mim2gene	OMIM:605389
147495	APCDD1	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:605389
147495	APCDD1	HP:0000653	Sparse eyelashes		HP:0040284	-	mim2gene	OMIM:605389
38	ACAT1	HP:0001824	Weight loss		HP:0040283		orphadata	ORPHA:134
38	ACAT1	HP:0010864	Intellectual disability, severe		HP:0040284		orphadata	ORPHA:134
38	ACAT1	HP:0002789	Tachypnea		HP:0040281		orphadata	ORPHA:134
38	ACAT1	HP:0001250	Seizures		HP:0040283		orphadata	ORPHA:134
38	ACAT1	HP:0001943	Hypoglycemia		HP:0040283		orphadata	ORPHA:134
38	ACAT1	HP:0002240	Hepatomegaly		HP:0040283		orphadata	ORPHA:134
38	ACAT1	HP:0002014	Diarrhea		HP:0040282		orphadata	ORPHA:134
38	ACAT1	HP:0001262	Excessive daytime somnolence		HP:0040282		orphadata	ORPHA:134
38	ACAT1	HP:0001974	Leukocytosis		HP:0040282		orphadata	ORPHA:134
38	ACAT1	HP:0001894	Thrombocytosis		HP:0040282		orphadata	ORPHA:134
38	ACAT1	HP:0000980	Pallor		HP:0040283		orphadata	ORPHA:134
38	ACAT1	HP:0003074	Hyperglycemia		HP:0040283		orphadata	ORPHA:134
38	ACAT1	HP:0001944	Dehydration		HP:0040282		orphadata	ORPHA:134
38	ACAT1	HP:0002039	Anorexia		HP:0040283		orphadata	ORPHA:134
38	ACAT1	HP:0007308	Extrapyramidal dyskinesia		HP:0040283		orphadata	ORPHA:134
38	ACAT1	HP:0000969	Edema		HP:0040283		orphadata	ORPHA:134
38	ACAT1	HP:0001256	Intellectual disability, mild		HP:0040284		orphadata	ORPHA:134
38	ACAT1	HP:0002919	Ketonuria		HP:0040281		orphadata	ORPHA:134
38	ACAT1	HP:0000713	Agitation		HP:0040283		orphadata	ORPHA:134
38	ACAT1	HP:0001259	Coma		HP:0040282		orphadata	ORPHA:134
38	ACAT1	HP:0500001	Body odor		HP:0040283		orphadata	ORPHA:134
38	ACAT1	HP:0001265	Hyporeflexia		HP:0040283		orphadata	ORPHA:134
38	ACAT1	HP:0001257	Spasticity		HP:0040283		orphadata	ORPHA:134
38	ACAT1	HP:0001993	Ketoacidosis		HP:0040282		orphadata	ORPHA:134
38	ACAT1	HP:0002615	Hypotension		HP:0040283		orphadata	ORPHA:134
38	ACAT1	HP:0012523	Oral aversion		HP:0040283		orphadata	ORPHA:134
38	ACAT1	HP:0001987	Hyperammonemia		HP:0040282		orphadata	ORPHA:134
38	ACAT1	HP:0002149	Hyperuricemia		HP:0040281		orphadata	ORPHA:134
38	ACAT1	HP:0001945	Fever		HP:0040281		orphadata	ORPHA:134
38	ACAT1	HP:0000741	Apathy		HP:0040282		orphadata	ORPHA:134
38	ACAT1	HP:0000822	Hypertension		HP:0040283		orphadata	ORPHA:134
38	ACAT1	HP:0001270	Motor delay		HP:0040283		orphadata	ORPHA:134
38	ACAT1	HP:0002013	Vomiting		HP:0040281		orphadata	ORPHA:134
38	ACAT1	HP:0002151	Increased serum lactate		HP:0040283		orphadata	ORPHA:134
38	ACAT1	HP:0001251	Ataxia		HP:0040283		orphadata	ORPHA:134
38	ACAT1	HP:0012705	Abnormal metabolic brain imaging by MRS		HP:0040283		orphadata	ORPHA:134
38	ACAT1	HP:0012735	Cough		HP:0040282		orphadata	ORPHA:134
38	ACAT1	HP:0001942	Metabolic acidosis		HP:0040281		orphadata	ORPHA:134
38	ACAT1	HP:0001252	Muscular hypotonia		HP:0040283		orphadata	ORPHA:134
38	ACAT1	HP:0001944	Dehydration			-	mim2gene	OMIM:203750
38	ACAT1	HP:0001249	Intellectual disability			-	mim2gene	OMIM:203750
38	ACAT1	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:203750
38	ACAT1	HP:0002013	Vomiting			-	mim2gene	OMIM:203750
38	ACAT1	HP:0005974	Episodic ketoacidosis			-	mim2gene	OMIM:203750
39	ACAT2	HP:0001263	Global developmental delay			question	mim2gene	OMIM:614055
39	ACAT2	HP:0002072	Chorea			question	mim2gene	OMIM:614055
39	ACAT2	HP:0003542	Increased serum pyruvate			question	mim2gene	OMIM:614055
39	ACAT2	HP:0002151	Increased serum lactate			question	mim2gene	OMIM:614055
39	ACAT2	HP:0003745	Sporadic			question	mim2gene	OMIM:614055
39	ACAT2	HP:0001290	Generalized hypotonia			question	mim2gene	OMIM:614055
131118	DNAJC19	HP:0002910	Elevated hepatic transaminase		HP:0040282		orphadata	ORPHA:66634
131118	DNAJC19	HP:0001324	Muscle weakness		HP:0040284		orphadata	ORPHA:66634
131118	DNAJC19	HP:0001999	Abnormal facial shape		HP:0040284		orphadata	ORPHA:66634
131118	DNAJC19	HP:0002345	Action tremor		HP:0040284		orphadata	ORPHA:66634
131118	DNAJC19	HP:0001644	Dilated cardiomyopathy		HP:0040281		orphadata	ORPHA:66634
131118	DNAJC19	HP:0000821	Hypothyroidism		HP:0040284		orphadata	ORPHA:66634
131118	DNAJC19	HP:0002061	Lower limb spasticity		HP:0040284		orphadata	ORPHA:66634
131118	DNAJC19	HP:0007146	Bilateral basal ganglia lesions		HP:0040284		orphadata	ORPHA:66634
131118	DNAJC19	HP:0001332	Dystonia		HP:0040284		orphadata	ORPHA:66634
131118	DNAJC19	HP:0002376	Developmental regression		HP:0040284		orphadata	ORPHA:66634
131118	DNAJC19	HP:0003700	Generalized amyotrophy		HP:0040284		orphadata	ORPHA:66634
131118	DNAJC19	HP:0001250	Seizures		HP:0040283		orphadata	ORPHA:66634
131118	DNAJC19	HP:0009110	Diaphragmatic eventration		HP:0040284		orphadata	ORPHA:66634
131118	DNAJC19	HP:0002151	Increased serum lactate		HP:0040282		orphadata	ORPHA:66634
131118	DNAJC19	HP:0004840	Hypochromic microcytic anemia		HP:0040282		orphadata	ORPHA:66634
131118	DNAJC19	HP:0000051	Perineal hypospadias		HP:0040283		orphadata	ORPHA:66634
131118	DNAJC19	HP:0002194	Delayed gross motor development		HP:0040282		orphadata	ORPHA:66634
131118	DNAJC19	HP:0003530	Glutaric acidemia		HP:0040281		orphadata	ORPHA:66634
131118	DNAJC19	HP:0008736	Hypoplasia of penis		HP:0040283		orphadata	ORPHA:66634
131118	DNAJC19	HP:0011623	Muscular ventricular septal defect		HP:0040283		orphadata	ORPHA:66634
131118	DNAJC19	HP:0004856	Normochromic microcytic anemia		HP:0040282		orphadata	ORPHA:66634
131118	DNAJC19	HP:0001414	Microvesicular hepatic steatosis		HP:0040283		orphadata	ORPHA:66634
131118	DNAJC19	HP:0100702	Arachnoid cyst		HP:0040284		orphadata	ORPHA:66634
131118	DNAJC19	HP:0007366	Atrophy/Degeneration affecting the brainstem		HP:0040284		orphadata	ORPHA:66634
131118	DNAJC19	HP:0003535	3-Methylglutaconic aciduria		HP:0040281		orphadata	ORPHA:66634
131118	DNAJC19	HP:0001657	Prolonged QT interval		HP:0040282		orphadata	ORPHA:66634
131118	DNAJC19	HP:0008619	Bilateral sensorineural hearing impairment		HP:0040284		orphadata	ORPHA:66634
131118	DNAJC19	HP:0001998	Neonatal hypoglycemia		HP:0040283		orphadata	ORPHA:66634
131118	DNAJC19	HP:0100660	Dyskinesia		HP:0040284		orphadata	ORPHA:66634
131118	DNAJC19	HP:0001319	Neonatal hypotonia		HP:0040284		orphadata	ORPHA:66634
131118	DNAJC19	HP:0000648	Optic atrophy		HP:0040283		orphadata	ORPHA:66634
131118	DNAJC19	HP:0008689	Bilateral cryptorchidism		HP:0040283		orphadata	ORPHA:66634
131118	DNAJC19	HP:0008762	Repetitive compulsive behavior		HP:0040284		orphadata	ORPHA:66634
131118	DNAJC19	HP:0001511	Intrauterine growth retardation		HP:0040282		orphadata	ORPHA:66634
131118	DNAJC19	HP:0001251	Ataxia		HP:0040281		orphadata	ORPHA:66634
131118	DNAJC19	HP:0001511	Intrauterine growth retardation			-	mim2gene	OMIM:610198
131118	DNAJC19	HP:0012817	Noncompaction cardiomyopathy			-	mim2gene	OMIM:610198
131118	DNAJC19	HP:0000047	Hypospadias			-	mim2gene	OMIM:610198
131118	DNAJC19	HP:0001324	Muscle weakness			-	mim2gene	OMIM:610198
131118	DNAJC19	HP:0002470	Nonprogressive cerebellar ataxia			-	mim2gene	OMIM:610198
131118	DNAJC19	HP:0003150	Glutaric aciduria			-	mim2gene	OMIM:610198
131118	DNAJC19	HP:0001644	Dilated cardiomyopathy			-	mim2gene	OMIM:610198
131118	DNAJC19	HP:0001249	Intellectual disability			-	mim2gene	OMIM:610198
131118	DNAJC19	HP:0001657	Prolonged QT interval			-	mim2gene	OMIM:610198
131118	DNAJC19	HP:0008897	Postnatal growth retardation			-	mim2gene	OMIM:610198
131118	DNAJC19	HP:0004856	Normochromic microcytic anemia			-	mim2gene	OMIM:610198
131118	DNAJC19	HP:0008897	Postnatal growth retardation			-	mim2gene	OMIM:610198
131118	DNAJC19	HP:0003344	3-Methylglutaric aciduria			-	mim2gene	OMIM:610198
131118	DNAJC19	HP:0000028	Cryptorchidism			-	mim2gene	OMIM:610198
131118	DNAJC19	HP:0001635	Congestive heart failure			-	mim2gene	OMIM:610198
131118	DNAJC19	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:610198
131118	DNAJC19	HP:0000648	Optic atrophy			-	mim2gene	OMIM:610198
131118	DNAJC19	HP:0001414	Microvesicular hepatic steatosis			-	mim2gene	OMIM:610198
131118	DNAJC19	HP:0008734	Decreased testicular size			-	mim2gene	OMIM:610198
131118	DNAJC19	HP:0001645	Sudden cardiac death			-	mim2gene	OMIM:610198
8239	USP9X	HP:0001290	Generalized hypotonia			-	mim2gene	OMIM:300919
8239	USP9X	HP:0000718	Aggressive behavior		HP:0040283	-	mim2gene	OMIM:300919
8239	USP9X	HP:0011304	Broad thumb			-	mim2gene	OMIM:300919
8239	USP9X	HP:0001263	Global developmental delay			-	mim2gene	OMIM:300919
8239	USP9X	HP:0001249	Intellectual disability			-	mim2gene	OMIM:300919
8239	USP9X	HP:0004322	Short stature			-	mim2gene	OMIM:300919
8239	USP9X	HP:0001419	X-linked recessive inheritance			-	mim2gene	OMIM:300919
8239	USP9X	HP:0011220	Prominent forehead			-	mim2gene	OMIM:300919
8239	USP9X	HP:0000324	Facial asymmetry			-	mim2gene	OMIM:300968
8239	USP9X	HP:0000448	Prominent nose			-	mim2gene	OMIM:300968
8239	USP9X	HP:0200055	Small hand			-	mim2gene	OMIM:300968
8239	USP9X	HP:0000750	Delayed speech and language development			-	mim2gene	OMIM:300968
8239	USP9X	HP:0011968	Feeding difficulties			-	mim2gene	OMIM:300968
8239	USP9X	HP:0000369	Low-set ears			-	mim2gene	OMIM:300968
8239	USP9X	HP:0000486	Strabismus			-	mim2gene	OMIM:300968
8239	USP9X	HP:0000601	Hypotelorism			-	mim2gene	OMIM:300968
8239	USP9X	HP:0100559	Lower limb asymmetry	7/17		-	mim2gene	OMIM:300968
8239	USP9X	HP:0000193	Bifid uvula	5/17		-	mim2gene	OMIM:300968
8239	USP9X	HP:0000248	Brachycephaly			-	mim2gene	OMIM:300968
8239	USP9X	HP:0000319	Smooth philtrum			-	mim2gene	OMIM:300968
8239	USP9X	HP:0002827	Hip dislocation			-	mim2gene	OMIM:300968
8239	USP9X	HP:0001290	Generalized hypotonia	8/17		-	mim2gene	OMIM:300968
8239	USP9X	HP:0001773	Short foot			-	mim2gene	OMIM:300968
8239	USP9X	HP:0000110	Renal dysplasia			-	mim2gene	OMIM:300968
8239	USP9X	HP:0002650	Scoliosis	11/17		-	mim2gene	OMIM:300968
8239	USP9X	HP:0001385	Hip dysplasia	8/17		-	mim2gene	OMIM:300968
8239	USP9X	HP:0002926	Abnormality of thyroid physiology	6/17		-	mim2gene	OMIM:300968
8239	USP9X	HP:0000164	Abnormality of the dentition			-	mim2gene	OMIM:300968
8239	USP9X	HP:0000540	Hypermetropia			-	mim2gene	OMIM:300968
8239	USP9X	HP:0000483	Astigmatism			-	mim2gene	OMIM:300968
8239	USP9X	HP:0001305	Dandy-Walker malformation	5/13		-	mim2gene	OMIM:300968
8239	USP9X	HP:0011220	Prominent forehead			-	mim2gene	OMIM:300968
8239	USP9X	HP:0001250	Seizures	4/17		-	mim2gene	OMIM:300968
8239	USP9X	HP:0000431	Wide nasal bridge			-	mim2gene	OMIM:300968
8239	USP9X	HP:0001263	Global developmental delay	17/17		-	mim2gene	OMIM:300968
8239	USP9X	HP:0002536	Abnormal cortical gyration	5/10		-	mim2gene	OMIM:300968
8239	USP9X	HP:0005280	Depressed nasal bridge			-	mim2gene	OMIM:300968
8239	USP9X	HP:0000545	Myopia			-	mim2gene	OMIM:300968
8239	USP9X	HP:0002023	Anal atresia	9/17		-	mim2gene	OMIM:300968
8239	USP9X	HP:0100259	Postaxial polydactyly	9/17		-	mim2gene	OMIM:300968
8239	USP9X	HP:0012745	Short palpebral fissure			-	mim2gene	OMIM:300968
8239	USP9X	HP:0000343	Long philtrum			-	mim2gene	OMIM:300968
8239	USP9X	HP:0000453	Choanal atresia	6/17		-	mim2gene	OMIM:300968
8239	USP9X	HP:0001423	X-linked dominant inheritance			-	mim2gene	OMIM:300968
8239	USP9X	HP:0012813	Unilateral breast hypoplasia	5/17		-	mim2gene	OMIM:300968
8239	USP9X	HP:0000358	Posteriorly rotated ears			-	mim2gene	OMIM:300968
8239	USP9X	HP:0001249	Intellectual disability			-	mim2gene	OMIM:300968
8239	USP9X	HP:0001388	Joint laxity			-	mim2gene	OMIM:300968
8239	USP9X	HP:0000998	Hypertrichosis	5/17		-	mim2gene	OMIM:300968
8239	USP9X	HP:0000341	Narrow forehead			-	mim2gene	OMIM:300968
8239	USP9X	HP:0002205	Recurrent respiratory infections	9/17		-	mim2gene	OMIM:300968
8239	USP9X	HP:0001631	Atrial septal defect			-	mim2gene	OMIM:300968
8239	USP9X	HP:0001643	Patent ductus arteriosus			-	mim2gene	OMIM:300968
8239	USP9X	HP:0001761	Pes cavus			-	mim2gene	OMIM:300968
8239	USP9X	HP:0001182	Tapered finger			-	mim2gene	OMIM:300968
8239	USP9X	HP:0000365	Hearing impairment	11/17		-	mim2gene	OMIM:300968
8239	USP9X	HP:0000518	Cataract			-	mim2gene	OMIM:300968
8239	USP9X	HP:0001321	Cerebellar hypoplasia	6/11		-	mim2gene	OMIM:300968
8239	USP9X	HP:0002079	Hypoplasia of the corpus callosum	8/13		-	mim2gene	OMIM:300968
8239	USP9X	HP:0004322	Short stature			-	mim2gene	OMIM:300968
8239	USP9X	HP:0000414	Bulbous nose			-	mim2gene	OMIM:300968
8239	USP9X	HP:0000960	Sacral dimple	5/17		-	mim2gene	OMIM:300968
8239	USP9X	HP:0002098	Respiratory distress			-	mim2gene	OMIM:300968
8239	USP9X	HP:0000126	Hydronephrosis			-	mim2gene	OMIM:300968
8239	USP9X	HP:0002465	Poor speech		HP:0040283		orphadata	ORPHA:777
8239	USP9X	HP:0002121	Absence seizure		HP:0040283		orphadata	ORPHA:777
8239	USP9X	HP:0000343	Long philtrum		HP:0040283		orphadata	ORPHA:777
8239	USP9X	HP:0000494	Downslanted palpebral fissures		HP:0040283		orphadata	ORPHA:777
8239	USP9X	HP:0000629	Periorbital fullness		HP:0040283		orphadata	ORPHA:777
8239	USP9X	HP:0008587	Mild neurosensory hearing impairment		HP:0040283		orphadata	ORPHA:777
8239	USP9X	HP:0002245	Meckel diverticulum		HP:0040283		orphadata	ORPHA:777
8239	USP9X	HP:0005280	Depressed nasal bridge		HP:0040283		orphadata	ORPHA:777
8239	USP9X	HP:0002342	Intellectual disability, moderate		HP:0040281		orphadata	ORPHA:777
8239	USP9X	HP:0000455	Broad nasal tip		HP:0040283		orphadata	ORPHA:777
8239	USP9X	HP:0001513	Obesity		HP:0040283		orphadata	ORPHA:777
8239	USP9X	HP:0008504	Moderate sensorineural hearing impairment		HP:0040283		orphadata	ORPHA:777
8239	USP9X	HP:0010864	Intellectual disability, severe		HP:0040283		orphadata	ORPHA:777
8239	USP9X	HP:0012704	Widened subarachnoid space		HP:0040283		orphadata	ORPHA:777
8239	USP9X	HP:0000684	Delayed eruption of teeth		HP:0040283		orphadata	ORPHA:777
8239	USP9X	HP:0006118	Shortening of all distal phalanges of the fingers		HP:0040283		orphadata	ORPHA:777
8239	USP9X	HP:0000256	Macrocephaly		HP:0040283		orphadata	ORPHA:777
8239	USP9X	HP:0000729	Autistic behavior		HP:0040282		orphadata	ORPHA:777
8239	USP9X	HP:0010628	Facial palsy		HP:0040283		orphadata	ORPHA:777
8239	USP9X	HP:0001518	Small for gestational age		HP:0040283		orphadata	ORPHA:777
8239	USP9X	HP:0000219	Thin upper lip vermilion		HP:0040283		orphadata	ORPHA:777
8239	USP9X	HP:0002021	Pyloric stenosis		HP:0040283		orphadata	ORPHA:777
8239	USP9X	HP:0000750	Delayed speech and language development		HP:0040282		orphadata	ORPHA:777
8239	USP9X	HP:0003487	Babinski sign		HP:0040283		orphadata	ORPHA:777
8239	USP9X	HP:0011800	Midface retrusion		HP:0040283		orphadata	ORPHA:777
8239	USP9X	HP:0000020	Urinary incontinence		HP:0040283		orphadata	ORPHA:777
8239	USP9X	HP:0000637	Long palpebral fissure		HP:0040283		orphadata	ORPHA:777
8239	USP9X	HP:0004691	2-3 toe syndactyly		HP:0040283		orphadata	ORPHA:777
8239	USP9X	HP:0002069	Generalized tonic-clonic seizures		HP:0040283		orphadata	ORPHA:777
8239	USP9X	HP:0001763	Pes planus		HP:0040283		orphadata	ORPHA:777
8239	USP9X	HP:0002307	Drooling		HP:0040283		orphadata	ORPHA:777
8239	USP9X	HP:0007018	Attention deficit hyperactivity disorder		HP:0040283		orphadata	ORPHA:777
8239	USP9X	HP:0005824	Clinodactyly of the 2nd toe		HP:0040283		orphadata	ORPHA:777
8239	USP9X	HP:0000179	Thick lower lip vermilion		HP:0040283		orphadata	ORPHA:777
8239	USP9X	HP:0001263	Global developmental delay		HP:0040282		orphadata	ORPHA:777
8239	USP9X	HP:0002187	Intellectual disability, profound		HP:0040283		orphadata	ORPHA:777
8239	USP9X	HP:0031508	Abnormal thyroid hormone level		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0012444	Brain atrophy		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0000343	Long philtrum		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0200055	Small hand		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0012745	Short palpebral fissure		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0000960	Sacral dimple		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0002098	Respiratory distress		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0001761	Pes cavus		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0001773	Short foot		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0000341	Narrow forehead		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0000431	Wide nasal bridge		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0002079	Hypoplasia of the corpus callosum		HP:0040282		orphadata	ORPHA:480880
8239	USP9X	HP:0010499	Patellar subluxation		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0002365	Hypoplasia of the brainstem		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0000545	Myopia		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0012810	Wide nasal base		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0002355	Difficulty walking		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0000212	Gingival overgrowth		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0002557	Hypoplastic nipples		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0000692	Misalignment of teeth		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0001263	Global developmental delay		HP:0040281		orphadata	ORPHA:480880
8239	USP9X	HP:0004322	Short stature		HP:0040282		orphadata	ORPHA:480880
8239	USP9X	HP:0000175	Cleft palate		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0000998	Hypertrichosis		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0001385	Hip dysplasia		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0001238	Slender finger		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0001822	Hallux valgus		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0011220	Prominent forehead		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0000518	Cataract		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0005272	Prominent nasolabial fold		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0005280	Depressed nasal bridge		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0005722	Hyperextensible thumb		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0012471	Thick vermilion border		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0004095	Curved fingers		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0000218	High palate		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0000365	Hearing impairment		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0001631	Atrial septal defect		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0002342	Intellectual disability, moderate		HP:0040281		orphadata	ORPHA:480880
8239	USP9X	HP:0004298	Abnormality of the abdominal wall		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0000454	Flared nostrils		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0002664	Neoplasm		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0200117	Recurrent upper and lower respiratory tract infections		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0000823	Delayed puberty		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0002023	Anal atresia		HP:0040282		orphadata	ORPHA:480880
8239	USP9X	HP:0002212	Curly hair		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0007483	Depigmentation/hyperpigmentation of skin		HP:0040282		orphadata	ORPHA:480880
8239	USP9X	HP:0100890	Cyst of the ductus choledochus		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0001182	Tapered finger		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0001305	Dandy-Walker malformation		HP:0040282		orphadata	ORPHA:480880
8239	USP9X	HP:0001763	Pes planus		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0001376	Limitation of joint mobility		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0030925	5-minute APGAR score of 5		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0000219	Thin upper lip vermilion		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0000582	Upslanted palpebral fissure		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0000486	Strabismus		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0000368	Low-set, posteriorly rotated ears		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0000938	Osteopenia		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0000324	Facial asymmetry		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0001643	Patent ductus arteriosus		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0000248	Brachycephaly		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0000483	Astigmatism		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0001388	Joint laxity		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0011968	Feeding difficulties		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0000506	Telecanthus		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0000540	Hypermetropia		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0001321	Cerebellar hypoplasia		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0030928	1-minute APGAR score of 1		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0002536	Abnormal cortical gyration		HP:0040282		orphadata	ORPHA:480880
8239	USP9X	HP:0100259	Postaxial polydactyly		HP:0040282		orphadata	ORPHA:480880
8239	USP9X	HP:0410026	Abnormality of the periodontium		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0000494	Downslanted palpebral fissures		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0000110	Renal dysplasia		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0001374	Congenital hip dislocation		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0002944	Thoracolumbar scoliosis		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0001250	Seizures		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0001638	Cardiomyopathy		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0001845	Overlapping toe		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0008947	Infantile muscular hypotonia		HP:0040282		orphadata	ORPHA:480880
8239	USP9X	HP:0000126	Hydronephrosis		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0000448	Prominent nose		HP:0040283		orphadata	ORPHA:480880
8239	USP9X	HP:0000453	Choanal atresia		HP:0040282		orphadata	ORPHA:480880
90161	HS6ST2	HP:0002003	Large forehead			question	mim2gene	OMIM:301025
90161	HS6ST2	HP:0011968	Feeding difficulties			question	mim2gene	OMIM:301025
90161	HS6ST2	HP:0002465	Poor speech			question	mim2gene	OMIM:301025
90161	HS6ST2	HP:0006956	Dilation of lateral ventricles			question	mim2gene	OMIM:301025
90161	HS6ST2	HP:0008551	Microtia			question	mim2gene	OMIM:301025
90161	HS6ST2	HP:0002151	Increased serum lactate			question	mim2gene	OMIM:301025
90161	HS6ST2	HP:0000490	Deeply set eye			question	mim2gene	OMIM:301025
90161	HS6ST2	HP:0001263	Global developmental delay			question	mim2gene	OMIM:301025
90161	HS6ST2	HP:0001419	X-linked recessive inheritance			question	mim2gene	OMIM:301025
90161	HS6ST2	HP:0011003	High myopia			question	mim2gene	OMIM:301025
90161	HS6ST2	HP:0000369	Low-set ears			question	mim2gene	OMIM:301025
90161	HS6ST2	HP:0000325	Triangular face			question	mim2gene	OMIM:301025
90161	HS6ST2	HP:0000750	Delayed speech and language development			question	mim2gene	OMIM:301025
90161	HS6ST2	HP:0002373	Febrile seizures			question	mim2gene	OMIM:301025
90161	HS6ST2	HP:0031936	Delayed ability to walk			question	mim2gene	OMIM:301025
90161	HS6ST2	HP:0000020	Urinary incontinence			question	mim2gene	OMIM:301025
90161	HS6ST2	HP:0000233	Thin vermilion border			question	mim2gene	OMIM:301025
90161	HS6ST2	HP:0000494	Downslanted palpebral fissures			question	mim2gene	OMIM:301025
90161	HS6ST2	HP:0000303	Mandibular prognathia			question	mim2gene	OMIM:301025
90161	HS6ST2	HP:0002714	Downturned corners of mouth			question	mim2gene	OMIM:301025
8241	RBM10	HP:0001508	Failure to thrive			-	mim2gene	OMIM:311900
8241	RBM10	HP:0001511	Intrauterine growth retardation			-	mim2gene	OMIM:311900
8241	RBM10	HP:0000175	Cleft palate			-	mim2gene	OMIM:311900
8241	RBM10	HP:0000767	Pectus excavatum		HP:0040283	-	mim2gene	OMIM:311900
8241	RBM10	HP:0001417	X-linked inheritance			-	mim2gene	OMIM:311900
8241	RBM10	HP:0000162	Glossoptosis			-	mim2gene	OMIM:311900
8241	RBM10	HP:0000218	High palate			-	mim2gene	OMIM:311900
8241	RBM10	HP:0000358	Posteriorly rotated ears			-	mim2gene	OMIM:311900
8241	RBM10	HP:0012745	Short palpebral fissure			-	mim2gene	OMIM:311900
8241	RBM10	HP:0002984	Hypoplasia of the radius			-	mim2gene	OMIM:311900
8241	RBM10	HP:0000369	Low-set ears			-	mim2gene	OMIM:311900
8241	RBM10	HP:0000879	Short sternum		HP:0040283	-	mim2gene	OMIM:311900
8241	RBM10	HP:0001320	Cerebellar vermis hypoplasia			-	mim2gene	OMIM:311900
8241	RBM10	HP:0000648	Optic atrophy		HP:0040283	-	mim2gene	OMIM:311900
8241	RBM10	HP:0030084	Clinodactyly			-	mim2gene	OMIM:311900
8241	RBM10	HP:0001273	Abnormal corpus callosum morphology			-	mim2gene	OMIM:311900
8241	RBM10	HP:0009891	Underdeveloped supraorbital ridges			-	mim2gene	OMIM:311900
8241	RBM10	HP:0030680	Abnormality of cardiovascular system morphology			-	mim2gene	OMIM:311900
8241	RBM10	HP:0000463	Anteverted nares			-	mim2gene	OMIM:311900
8241	RBM10	HP:0012725	Cutaneous syndactyly			-	mim2gene	OMIM:311900
8241	RBM10	HP:0000347	Micrognathia			-	mim2gene	OMIM:311900
8241	RBM10	HP:0001762	Talipes equinovarus			-	mim2gene	OMIM:311900
8241	RBM10	HP:0008551	Microtia			-	mim2gene	OMIM:311900
8241	RBM10	HP:0000954	Single transverse palmar crease			-	mim2gene	OMIM:311900
8241	RBM10	HP:0000085	Horseshoe kidney			-	mim2gene	OMIM:311900
8241	RBM10	HP:0001290	Generalized hypotonia			-	mim2gene	OMIM:311900
8241	RBM10	HP:0000239	Large fontanelles			-	mim2gene	OMIM:311900
8241	RBM10	HP:0001321	Cerebellar hypoplasia			-	mim2gene	OMIM:311900
8241	RBM10	HP:0000199	Tongue nodules		HP:0040283	-	mim2gene	OMIM:311900
8241	RBM10	HP:0006191	Deep palmar crease			-	mim2gene	OMIM:311900
8241	RBM10	HP:0100259	Postaxial polydactyly		HP:0040283	-	mim2gene	OMIM:311900
8241	RBM10	HP:0000126	Hydronephrosis			-	mim2gene	OMIM:311900
8241	RBM10	HP:0000395	Prominent antihelix			-	mim2gene	OMIM:311900
8241	RBM10	HP:0001263	Global developmental delay			-	mim2gene	OMIM:311900
8241	RBM10	HP:0000431	Wide nasal bridge			-	mim2gene	OMIM:311900
8241	RBM10	HP:0001636	Tetralogy of Fallot		HP:0040283	-	mim2gene	OMIM:311900
8241	RBM10	HP:0000316	Hypertelorism			-	mim2gene	OMIM:311900
8241	RBM10	HP:0001419	X-linked recessive inheritance			-	mim2gene	OMIM:311900
8241	RBM10	HP:0000385	Small earlobe		HP:0040283		orphadata	ORPHA:2886
8241	RBM10	HP:0000368	Low-set, posteriorly rotated ears		HP:0040283		orphadata	ORPHA:2886
8241	RBM10	HP:0001290	Generalized hypotonia		HP:0040282		orphadata	ORPHA:2886
8241	RBM10	HP:0000879	Short sternum		HP:0040284		orphadata	ORPHA:2886
8241	RBM10	HP:0001631	Atrial septal defect		HP:0040281		orphadata	ORPHA:2886
8241	RBM10	HP:0009891	Underdeveloped supraorbital ridges		HP:0040282		orphadata	ORPHA:2886
8241	RBM10	HP:0002104	Apnea		HP:0040283		orphadata	ORPHA:2886
8241	RBM10	HP:0000162	Glossoptosis		HP:0040282		orphadata	ORPHA:2886
8241	RBM10	HP:0010720	Abnormal hair pattern		HP:0040284		orphadata	ORPHA:2886
8241	RBM10	HP:0001838	Rocker bottom foot		HP:0040282		orphadata	ORPHA:2886
8241	RBM10	HP:0001636	Tetralogy of Fallot		HP:0040284		orphadata	ORPHA:2886
8241	RBM10	HP:0002650	Scoliosis		HP:0040283		orphadata	ORPHA:2886
8241	RBM10	HP:0001250	Seizures		HP:0040283		orphadata	ORPHA:2886
8241	RBM10	HP:0001249	Intellectual disability		HP:0040282		orphadata	ORPHA:2886
8241	RBM10	HP:0004492	Widely patent fontanelles and sutures		HP:0040283		orphadata	ORPHA:2886
8241	RBM10	HP:0005301	Persistent left superior vena cava		HP:0040281		orphadata	ORPHA:2886
8241	RBM10	HP:0009085	Alveolar ridge overgrowth		HP:0040284		orphadata	ORPHA:2886
8241	RBM10	HP:0000395	Prominent antihelix		HP:0040283		orphadata	ORPHA:2886
8241	RBM10	HP:0000175	Cleft palate		HP:0040282		orphadata	ORPHA:2886
8241	RBM10	HP:0001762	Talipes equinovarus		HP:0040281		orphadata	ORPHA:2886
8241	RBM10	HP:0012745	Short palpebral fissure		HP:0040283		orphadata	ORPHA:2886
8241	RBM10	HP:0001508	Failure to thrive		HP:0040282		orphadata	ORPHA:2886
8241	RBM10	HP:0001511	Intrauterine growth retardation		HP:0040282		orphadata	ORPHA:2886
8241	RBM10	HP:0000085	Horseshoe kidney		HP:0040283		orphadata	ORPHA:2886
8241	RBM10	HP:0006434	Hypoplasia of proximal radius		HP:0040283		orphadata	ORPHA:2886
8241	RBM10	HP:0000199	Tongue nodules		HP:0040284		orphadata	ORPHA:2886
8241	RBM10	HP:0100259	Postaxial polydactyly		HP:0040284		orphadata	ORPHA:2886
8241	RBM10	HP:0000347	Micrognathia		HP:0040282		orphadata	ORPHA:2886
8241	RBM10	HP:0000648	Optic atrophy		HP:0040284		orphadata	ORPHA:2886
8241	RBM10	HP:0001161	Hand polydactyly		HP:0040283		orphadata	ORPHA:2886
8241	RBM10	HP:0000316	Hypertelorism		HP:0040282		orphadata	ORPHA:2886
8241	RBM10	HP:0000126	Hydronephrosis		HP:0040283		orphadata	ORPHA:2886
8241	RBM10	HP:0000463	Anteverted nares		HP:0040283		orphadata	ORPHA:2886
8241	RBM10	HP:0000767	Pectus excavatum		HP:0040284		orphadata	ORPHA:2886
8241	RBM10	HP:0030084	Clinodactyly		HP:0040283		orphadata	ORPHA:2886
8241	RBM10	HP:0000545	Myopia		HP:0040283		orphadata	ORPHA:2886
8241	RBM10	HP:0001273	Abnormal corpus callosum morphology		HP:0040283		orphadata	ORPHA:2886
8241	RBM10	HP:0002136	Broad-based gait		HP:0040283		orphadata	ORPHA:2886
8241	RBM10	HP:0002089	Pulmonary hypoplasia		HP:0040284		orphadata	ORPHA:2886
8241	RBM10	HP:0000574	Thick eyebrow		HP:0040283		orphadata	ORPHA:2886
8241	RBM10	HP:0000954	Single transverse palmar crease		HP:0040283		orphadata	ORPHA:2886
8241	RBM10	HP:0000028	Cryptorchidism		HP:0040283		orphadata	ORPHA:2886
8241	RBM10	HP:0000365	Hearing impairment		HP:0040283		orphadata	ORPHA:2886
8241	RBM10	HP:0001978	Extramedullary hematopoiesis		HP:0040283		orphadata	ORPHA:2886
8241	RBM10	HP:0006101	Finger syndactyly		HP:0040283		orphadata	ORPHA:2886
8241	RBM10	HP:0000431	Wide nasal bridge		HP:0040282		orphadata	ORPHA:2886
8241	RBM10	HP:0000201	Pierre-Robin sequence		HP:0040281		orphadata	ORPHA:2886
8241	RBM10	HP:0000961	Cyanosis		HP:0040282		orphadata	ORPHA:2886
8241	RBM10	HP:0001263	Global developmental delay		HP:0040282		orphadata	ORPHA:2886
8241	RBM10	HP:0011445	Athetoid cerebral palsy		HP:0040284		orphadata	ORPHA:2886
8241	RBM10	HP:0001321	Cerebellar hypoplasia		HP:0040283		orphadata	ORPHA:2886
8241	RBM10	HP:0002246	Abnormality of the duodenum		HP:0040284		orphadata	ORPHA:2886
8241	RBM10	HP:0000340	Sloping forehead		HP:0040282		orphadata	ORPHA:2886
8242	KDM5C	HP:0000327	Hypoplasia of the maxilla			-	mim2gene	OMIM:300534
8242	KDM5C	HP:0001419	X-linked recessive inheritance			-	mim2gene	OMIM:300534
8242	KDM5C	HP:0002705	High, narrow palate			-	mim2gene	OMIM:300534
8242	KDM5C	HP:0008124	Talipes calcaneovarus			-	mim2gene	OMIM:300534
8242	KDM5C	HP:0000303	Mandibular prognathia			-	mim2gene	OMIM:300534
8242	KDM5C	HP:0004322	Short stature	5/9		-	mim2gene	OMIM:300534
8242	KDM5C	HP:0001156	Brachydactyly			-	mim2gene	OMIM:300534
8242	KDM5C	HP:0001176	Large hands			-	mim2gene	OMIM:300534
8242	KDM5C	HP:0000028	Cryptorchidism			-	mim2gene	OMIM:300534
8242	KDM5C	HP:0000711	Restlessness			-	mim2gene	OMIM:300534
8242	KDM5C	HP:0000699	Diastema			-	mim2gene	OMIM:300534
8242	KDM5C	HP:0000221	Furrowed tongue			-	mim2gene	OMIM:300534
8242	KDM5C	HP:0000347	Micrognathia			-	mim2gene	OMIM:300534
8242	KDM5C	HP:0001762	Talipes equinovarus			-	mim2gene	OMIM:300534
8242	KDM5C	HP:0000054	Micropenis			-	mim2gene	OMIM:300534
8242	KDM5C	HP:0002229	Alopecia areata			-	mim2gene	OMIM:300534
8242	KDM5C	HP:0001773	Short foot			-	mim2gene	OMIM:300534
8242	KDM5C	HP:0000540	Hypermetropia			-	mim2gene	OMIM:300534
8242	KDM5C	HP:0000718	Aggressive behavior	4/9		-	mim2gene	OMIM:300534
8242	KDM5C	HP:0000767	Pectus excavatum			-	mim2gene	OMIM:300534
8242	KDM5C	HP:0000297	Facial hypotonia			-	mim2gene	OMIM:300534
8242	KDM5C	HP:0000219	Thin upper lip vermilion			-	mim2gene	OMIM:300534
8242	KDM5C	HP:0000400	Macrotia			-	mim2gene	OMIM:300534
8242	KDM5C	HP:0009882	Short distal phalanx of finger			-	mim2gene	OMIM:300534
8242	KDM5C	HP:0000319	Smooth philtrum			-	mim2gene	OMIM:300534
8242	KDM5C	HP:0000252	Microcephaly	2/9		-	mim2gene	OMIM:300534
8242	KDM5C	HP:0000744	Low frustration tolerance			-	mim2gene	OMIM:300534
8242	KDM5C	HP:0000490	Deeply set eye			-	mim2gene	OMIM:300534
8242	KDM5C	HP:0008734	Decreased testicular size	2/9		-	mim2gene	OMIM:300534
8242	KDM5C	HP:0000219	Thin upper lip vermilion			-	mim2gene	OMIM:300534
8242	KDM5C	HP:0000350	Small forehead			-	mim2gene	OMIM:300534
8242	KDM5C	HP:0000582	Upslanted palpebral fissure			-	mim2gene	OMIM:300534
8242	KDM5C	HP:0000218	High palate	3/9		-	mim2gene	OMIM:300534
8242	KDM5C	HP:0006895	Lower limb hypertonia			-	mim2gene	OMIM:300534
8242	KDM5C	HP:0003487	Babinski sign			-	mim2gene	OMIM:300534
8242	KDM5C	HP:0010864	Intellectual disability, severe			-	mim2gene	OMIM:300534
8242	KDM5C	HP:0002395	Lower limb hyperreflexia			-	mim2gene	OMIM:300534
8242	KDM5C	HP:0000486	Strabismus	2/9		-	mim2gene	OMIM:300534
8242	KDM5C	HP:0008944	Distal lower limb amyotrophy			-	mim2gene	OMIM:300534
8242	KDM5C	HP:0002362	Shuffling gait			-	mim2gene	OMIM:300534
8242	KDM5C	HP:0007020	Progressive spastic paraplegia			-	mim2gene	OMIM:300534
8242	KDM5C	HP:0000256	Macrocephaly			-	mim2gene	OMIM:300534
8242	KDM5C	HP:0001250	Seizures	3/9		-	mim2gene	OMIM:300534
8242	KDM5C	HP:0000545	Myopia			-	mim2gene	OMIM:300534
8242	KDM5C	HP:0006887	Intellectual disability, progressive			-	mim2gene	OMIM:300534
8242	KDM5C	HP:0010864	Intellectual disability, severe		HP:0040281		orphadata	ORPHA:85279
8242	KDM5C	HP:0000750	Delayed speech and language development		HP:0040281		orphadata	ORPHA:85279
8242	KDM5C	HP:0004279	Short palm		HP:0040283		orphadata	ORPHA:85279
8242	KDM5C	HP:0000486	Strabismus		HP:0040283		orphadata	ORPHA:85279
8242	KDM5C	HP:0100490	Camptodactyly of finger		HP:0040283		orphadata	ORPHA:85279
8242	KDM5C	HP:0000426	Prominent nasal bridge		HP:0040283		orphadata	ORPHA:85279
8242	KDM5C	HP:0004322	Short stature		HP:0040282		orphadata	ORPHA:85279
8242	KDM5C	HP:0000218	High palate		HP:0040283		orphadata	ORPHA:85279
8242	KDM5C	HP:0008734	Decreased testicular size		HP:0040283		orphadata	ORPHA:85279
8242	KDM5C	HP:0000252	Microcephaly		HP:0040283		orphadata	ORPHA:85279
8242	KDM5C	HP:0001347	Hyperreflexia		HP:0040282		orphadata	ORPHA:85279
8242	KDM5C	HP:0001762	Talipes equinovarus		HP:0040283		orphadata	ORPHA:85279
8242	KDM5C	HP:0001250	Seizures		HP:0040282		orphadata	ORPHA:85279
8242	KDM5C	HP:0002229	Alopecia areata		HP:0040281		orphadata	ORPHA:85279
8242	KDM5C	HP:0000718	Aggressive behavior		HP:0040282		orphadata	ORPHA:85279
8242	KDM5C	HP:0000028	Cryptorchidism		HP:0040281		orphadata	ORPHA:85279
8242	KDM5C	HP:0000327	Hypoplasia of the maxilla		HP:0040281		orphadata	ORPHA:85279
8242	KDM5C	HP:0000490	Deeply set eye		HP:0040283		orphadata	ORPHA:85279
8242	KDM5C	HP:0000717	Autism		HP:0040283		orphadata	ORPHA:85279
8242	KDM5C	HP:0001257	Spasticity		HP:0040282		orphadata	ORPHA:85279
8242	KDM5C	HP:0000411	Protruding ear		HP:0040283		orphadata	ORPHA:85279
8242	KDM5C	HP:0007565	Multiple cafe-au-lait spots		HP:0040283		orphadata	ORPHA:85279
8242	KDM5C	HP:0030084	Clinodactyly		HP:0040283		orphadata	ORPHA:85279
8242	KDM5C	HP:0001182	Tapered finger		HP:0040283		orphadata	ORPHA:85279
8242	KDM5C	HP:0000256	Macrocephaly		HP:0040283		orphadata	ORPHA:85279
50	ACO2	HP:0030528	Paracentral scotoma			question	mim2gene	OMIM:616289
50	ACO2	HP:0000642	Red-green dyschromatopsia			question	mim2gene	OMIM:616289
50	ACO2	HP:0000648	Optic atrophy			question	mim2gene	OMIM:616289
50	ACO2	HP:0000007	Autosomal recessive inheritance			question	mim2gene	OMIM:616289
50	ACO2	HP:0007663	Reduced visual acuity			question	mim2gene	OMIM:616289
50	ACO2	HP:0000980	Pallor			question	mim2gene	OMIM:616289
50	ACO2	HP:0001251	Ataxia			-	mim2gene	OMIM:614559
50	ACO2	HP:0001290	Generalized hypotonia			-	mim2gene	OMIM:614559
50	ACO2	HP:0000407	Sensorineural hearing impairment		HP:0040283	-	mim2gene	OMIM:614559
50	ACO2	HP:0002079	Hypoplasia of the corpus callosum			-	mim2gene	OMIM:614559
50	ACO2	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:614559
50	ACO2	HP:0000253	Progressive microcephaly			-	mim2gene	OMIM:614559
50	ACO2	HP:0000648	Optic atrophy			-	mim2gene	OMIM:614559
50	ACO2	HP:0001265	Hyporeflexia			-	mim2gene	OMIM:614559
50	ACO2	HP:0011344	Severe global developmental delay			-	mim2gene	OMIM:614559
50	ACO2	HP:0000556	Retinal dystrophy			-	mim2gene	OMIM:614559
50	ACO2	HP:0000639	Nystagmus			-	mim2gene	OMIM:614559
50	ACO2	HP:0000486	Strabismus			-	mim2gene	OMIM:614559
50	ACO2	HP:0001508	Failure to thrive			-	mim2gene	OMIM:614559
50	ACO2	HP:0002120	Cerebral cortical atrophy			-	mim2gene	OMIM:614559
50	ACO2	HP:0001284	Areflexia			-	mim2gene	OMIM:614559
50	ACO2	HP:0010864	Intellectual disability, severe			-	mim2gene	OMIM:614559
50	ACO2	HP:0002305	Athetosis			-	mim2gene	OMIM:614559
50	ACO2	HP:0003593	Infantile onset			-	mim2gene	OMIM:614559
50	ACO2	HP:0007108	Demyelinating peripheral neuropathy			-	mim2gene	OMIM:614559
50	ACO2	HP:0001250	Seizures			-	mim2gene	OMIM:614559
50	ACO2	HP:0001272	Cerebellar atrophy			-	mim2gene	OMIM:614559
8243	SMC1A	HP:0000664	Synophrys		HP:0040283		orphadata	ORPHA:319182
8243	SMC1A	HP:0000750	Delayed speech and language development		HP:0040281		orphadata	ORPHA:319182
8243	SMC1A	HP:0001249	Intellectual disability		HP:0040283		orphadata	ORPHA:319182
8243	SMC1A	HP:0001250	Seizures		HP:0040283		orphadata	ORPHA:319182
8243	SMC1A	HP:0000268	Dolichocephaly		HP:0040283		orphadata	ORPHA:319182
8243	SMC1A	HP:0008905	Rhizomelia		HP:0040283		orphadata	ORPHA:319182
8243	SMC1A	HP:0000343	Long philtrum		HP:0040282		orphadata	ORPHA:319182
8243	SMC1A	HP:0000574	Thick eyebrow		HP:0040282		orphadata	ORPHA:319182
8243	SMC1A	HP:0000733	Stereotypy		HP:0040282		orphadata	ORPHA:319182
8243	SMC1A	HP:0009811	Abnormality of the elbow		HP:0040282		orphadata	ORPHA:319182
8243	SMC1A	HP:0000218	High palate		HP:0040283		orphadata	ORPHA:319182
8243	SMC1A	HP:0000219	Thin upper lip vermilion		HP:0040282		orphadata	ORPHA:319182
8243	SMC1A	HP:0100581	Dilatation of renal calices		HP:0040283		orphadata	ORPHA:319182
8243	SMC1A	HP:0000960	Sacral dimple		HP:0040283		orphadata	ORPHA:319182
8243	SMC1A	HP:0012368	Flat face		HP:0040283		orphadata	ORPHA:319182
8243	SMC1A	HP:0002750	Delayed skeletal maturation		HP:0040282		orphadata	ORPHA:319182
8243	SMC1A	HP:0001273	Abnormal corpus callosum morphology		HP:0040283		orphadata	ORPHA:319182
8243	SMC1A	HP:0000506	Telecanthus		HP:0040283		orphadata	ORPHA:319182
8243	SMC1A	HP:0004209	Clinodactyly of the 5th finger		HP:0040283		orphadata	ORPHA:319182
8243	SMC1A	HP:0001182	Tapered finger		HP:0040282		orphadata	ORPHA:319182
8243	SMC1A	HP:0002020	Gastroesophageal reflux		HP:0040283		orphadata	ORPHA:319182
8243	SMC1A	HP:0000736	Short attention span		HP:0040282		orphadata	ORPHA:319182
8243	SMC1A	HP:0008897	Postnatal growth retardation		HP:0040282		orphadata	ORPHA:319182
8243	SMC1A	HP:0000286	Epicanthus		HP:0040283		orphadata	ORPHA:319182
8243	SMC1A	HP:0010485	Hyperextensibility at elbow		HP:0040283		orphadata	ORPHA:319182
8243	SMC1A	HP:0000311	Round face		HP:0040282		orphadata	ORPHA:319182
8243	SMC1A	HP:0002194	Delayed gross motor development		HP:0040282		orphadata	ORPHA:319182
8243	SMC1A	HP:0004540	Congenital, generalized hypertrichosis		HP:0040282		orphadata	ORPHA:319182
8243	SMC1A	HP:0011968	Feeding difficulties		HP:0040282		orphadata	ORPHA:319182
8243	SMC1A	HP:0000739	Anxiety		HP:0040282		orphadata	ORPHA:319182
8243	SMC1A	HP:0002361	Psychomotor deterioration		HP:0040283		orphadata	ORPHA:319182
8243	SMC1A	HP:0000252	Microcephaly		HP:0040283		orphadata	ORPHA:319182
8243	SMC1A	HP:0000824	Growth hormone deficiency		HP:0040282		orphadata	ORPHA:319182
8243	SMC1A	HP:0001508	Failure to thrive		HP:0040283		orphadata	ORPHA:319182
8243	SMC1A	HP:0000527	Long eyelashes		HP:0040282		orphadata	ORPHA:319182
8243	SMC1A	HP:0000431	Wide nasal bridge		HP:0040282		orphadata	ORPHA:319182
8243	SMC1A	HP:0000348	High forehead		HP:0040283		orphadata	ORPHA:319182
8243	SMC1A	HP:0000508	Ptosis		HP:0040283		orphadata	ORPHA:319182
8243	SMC1A	HP:0000718	Aggressive behavior		HP:0040282		orphadata	ORPHA:319182
8243	SMC1A	HP:0005616	Accelerated skeletal maturation		HP:0040282		orphadata	ORPHA:319182
8243	SMC1A	HP:0006712	Aplasia/Hypoplasia of the ribs		HP:0040283		orphadata	ORPHA:319182
8243	SMC1A	HP:0000316	Hypertelorism		HP:0040282		orphadata	ORPHA:319182
8243	SMC1A	HP:0000369	Low-set ears		HP:0040283		orphadata	ORPHA:319182
8243	SMC1A	HP:0000752	Hyperactivity		HP:0040282		orphadata	ORPHA:319182
8243	SMC1A	HP:0003196	Short nose		HP:0040283		orphadata	ORPHA:319182
8243	SMC1A	HP:0000465	Webbed neck		HP:0040283		orphadata	ORPHA:319182
8243	SMC1A	HP:0000324	Facial asymmetry		HP:0040282		orphadata	ORPHA:319182
8243	SMC1A	HP:0002230	Generalized hirsutism		HP:0040283		orphadata	ORPHA:319182
8243	SMC1A	HP:0002015	Dysphagia		HP:0040282		orphadata	ORPHA:319182
8243	SMC1A	HP:0000767	Pectus excavatum		HP:0040283		orphadata	ORPHA:319182
8243	SMC1A	HP:0001252	Muscular hypotonia		HP:0040282		orphadata	ORPHA:319182
8243	SMC1A	HP:0012745	Short palpebral fissure		HP:0040282		orphadata	ORPHA:319182
8243	SMC1A	HP:0000744	Low frustration tolerance		HP:0040282		orphadata	ORPHA:319182
8243	SMC1A	HP:0001511	Intrauterine growth retardation		HP:0040283		orphadata	ORPHA:319182
8243	SMC1A	HP:0000639	Nystagmus		HP:0040283		orphadata	ORPHA:199
8243	SMC1A	HP:0001385	Hip dysplasia		HP:0040283		orphadata	ORPHA:199
8243	SMC1A	HP:0002167	Neurological speech impairment		HP:0040282		orphadata	ORPHA:199
8243	SMC1A	HP:0000413	Atresia of the external auditory canal		HP:0040281		orphadata	ORPHA:199
8243	SMC1A	HP:0005280	Depressed nasal bridge		HP:0040281		orphadata	ORPHA:199
8243	SMC1A	HP:0007598	Bilateral single transverse palmar creases		HP:0040282		orphadata	ORPHA:199
8243	SMC1A	HP:0002553	Highly arched eyebrow		HP:0040281		orphadata	ORPHA:199
8243	SMC1A	HP:0002580	Volvulus		HP:0040283		orphadata	ORPHA:199
8243	SMC1A	HP:0010300	Abnormally low-pitched voice		HP:0040281		orphadata	ORPHA:199
8243	SMC1A	HP:0000059	Hypoplastic labia majora		HP:0040282		orphadata	ORPHA:199
8243	SMC1A	HP:0001250	Seizures		HP:0040283		orphadata	ORPHA:199
8243	SMC1A	HP:0000518	Cataract		HP:0040283		orphadata	ORPHA:199
8243	SMC1A	HP:0002230	Generalized hirsutism		HP:0040281		orphadata	ORPHA:199
8243	SMC1A	HP:0001508	Failure to thrive		HP:0040282		orphadata	ORPHA:199
8243	SMC1A	HP:0009623	Proximal placement of thumb		HP:0040281		orphadata	ORPHA:199
8243	SMC1A	HP:0000294	Low anterior hairline		HP:0040281		orphadata	ORPHA:199
8243	SMC1A	HP:0000739	Anxiety		HP:0040282		orphadata	ORPHA:199
8243	SMC1A	HP:0001773	Short foot		HP:0040281		orphadata	ORPHA:199
8243	SMC1A	HP:0002714	Downturned corners of mouth		HP:0040281		orphadata	ORPHA:199
8243	SMC1A	HP:0000767	Pectus excavatum		HP:0040283		orphadata	ORPHA:199
8243	SMC1A	HP:0002974	Radioulnar synostosis		HP:0040282		orphadata	ORPHA:199
8243	SMC1A	HP:0000248	Brachycephaly		HP:0040281		orphadata	ORPHA:199
8243	SMC1A	HP:0001956	Truncal obesity		HP:0040283		orphadata	ORPHA:199
8243	SMC1A	HP:0000130	Abnormality of the uterus		HP:0040283		orphadata	ORPHA:199
8243	SMC1A	HP:0000823	Delayed puberty		HP:0040283		orphadata	ORPHA:199
8243	SMC1A	HP:0000400	Macrotia		HP:0040283		orphadata	ORPHA:199
8243	SMC1A	HP:0000776	Congenital diaphragmatic hernia		HP:0040283		orphadata	ORPHA:199
8243	SMC1A	HP:0000343	Long philtrum		HP:0040281		orphadata	ORPHA:199
8243	SMC1A	HP:0000453	Choanal atresia		HP:0040283		orphadata	ORPHA:199
8243	SMC1A	HP:0000047	Hypospadias		HP:0040282		orphadata	ORPHA:199
8243	SMC1A	HP:0001557	Prenatal movement abnormality		HP:0040283		orphadata	ORPHA:199
8243	SMC1A	HP:0004322	Short stature		HP:0040281		orphadata	ORPHA:199
8243	SMC1A	HP:0000486	Strabismus		HP:0040283		orphadata	ORPHA:199
8243	SMC1A	HP:0002750	Delayed skeletal maturation		HP:0040281		orphadata	ORPHA:199
8243	SMC1A	HP:0002021	Pyloric stenosis		HP:0040283		orphadata	ORPHA:199
8243	SMC1A	HP:0001631	Atrial septal defect		HP:0040283		orphadata	ORPHA:199
8243	SMC1A	HP:0004209	Clinodactyly of the 5th finger		HP:0040282		orphadata	ORPHA:199
8243	SMC1A	HP:0001770	Toe syndactyly		HP:0040281		orphadata	ORPHA:199
8243	SMC1A	HP:0000684	Delayed eruption of teeth		HP:0040281		orphadata	ORPHA:199
8243	SMC1A	HP:0000407	Sensorineural hearing impairment		HP:0040282		orphadata	ORPHA:199
8243	SMC1A	HP:0000347	Micrognathia		HP:0040281		orphadata	ORPHA:199
8243	SMC1A	HP:0001387	Joint stiffness		HP:0040282		orphadata	ORPHA:199
8243	SMC1A	HP:0000233	Thin vermilion border		HP:0040281		orphadata	ORPHA:199
8243	SMC1A	HP:0000722	Obsessive-compulsive behavior		HP:0040282		orphadata	ORPHA:199
8243	SMC1A	HP:0002120	Cerebral cortical atrophy		HP:0040283		orphadata	ORPHA:199
8243	SMC1A	HP:0000574	Thick eyebrow		HP:0040281		orphadata	ORPHA:199
8243	SMC1A	HP:0012165	Oligodactyly		HP:0040283		orphadata	ORPHA:199
8243	SMC1A	HP:0002162	Low posterior hairline		HP:0040281		orphadata	ORPHA:199
8243	SMC1A	HP:0000218	High palate		HP:0040281		orphadata	ORPHA:199
8243	SMC1A	HP:0002827	Hip dislocation		HP:0040283		orphadata	ORPHA:199
8243	SMC1A	HP:0007018	Attention deficit hyperactivity disorder		HP:0040282		orphadata	ORPHA:199
8243	SMC1A	HP:0002557	Hypoplastic nipples		HP:0040282		orphadata	ORPHA:199
8243	SMC1A	HP:0009830	Peripheral neuropathy		HP:0040283		orphadata	ORPHA:199
8243	SMC1A	HP:0000786	Primary amenorrhea		HP:0040283		orphadata	ORPHA:199
8243	SMC1A	HP:0200055	Small hand		HP:0040281		orphadata	ORPHA:199
8243	SMC1A	HP:0000463	Anteverted nares		HP:0040281		orphadata	ORPHA:199
8243	SMC1A	HP:0010880	Increased nuchal translucency		HP:0040283		orphadata	ORPHA:199
8243	SMC1A	HP:0001511	Intrauterine growth retardation		HP:0040282		orphadata	ORPHA:199
8243	SMC1A	HP:0008850	Severe postnatal growth retardation		HP:0040282		orphadata	ORPHA:199
8243	SMC1A	HP:0007360	Aplasia/Hypoplasia of the cerebellum		HP:0040283		orphadata	ORPHA:199
8243	SMC1A	HP:0001276	Hypertonia		HP:0040281		orphadata	ORPHA:199
8243	SMC1A	HP:0000527	Long eyelashes		HP:0040281		orphadata	ORPHA:199
8243	SMC1A	HP:0000083	Renal insufficiency		HP:0040283		orphadata	ORPHA:199
8243	SMC1A	HP:0000368	Low-set, posteriorly rotated ears		HP:0040282		orphadata	ORPHA:199
8243	SMC1A	HP:0003196	Short nose		HP:0040281		orphadata	ORPHA:199
8243	SMC1A	HP:0000664	Synophrys		HP:0040281		orphadata	ORPHA:199
8243	SMC1A	HP:0000545	Myopia		HP:0040282		orphadata	ORPHA:199
8243	SMC1A	HP:0001883	Talipes		HP:0040283		orphadata	ORPHA:199
8243	SMC1A	HP:0000717	Autism		HP:0040283		orphadata	ORPHA:199
8243	SMC1A	HP:0000028	Cryptorchidism		HP:0040282		orphadata	ORPHA:199
8243	SMC1A	HP:0000667	Phthisis bulbi		HP:0040282		orphadata	ORPHA:199
8243	SMC1A	HP:0000175	Cleft palate		HP:0040283		orphadata	ORPHA:199
8243	SMC1A	HP:0000405	Conductive hearing impairment		HP:0040282		orphadata	ORPHA:199
8243	SMC1A	HP:0000498	Blepharitis		HP:0040282		orphadata	ORPHA:199
8243	SMC1A	HP:0002360	Sleep disturbance		HP:0040282		orphadata	ORPHA:199
8243	SMC1A	HP:0000508	Ptosis		HP:0040282		orphadata	ORPHA:199
8243	SMC1A	HP:0002983	Micromelia		HP:0040281		orphadata	ORPHA:199
8243	SMC1A	HP:0008872	Feeding difficulties in infancy		HP:0040282		orphadata	ORPHA:199
8243	SMC1A	HP:0000482	Microcornea		HP:0040282		orphadata	ORPHA:199
8243	SMC1A	HP:0002119	Ventriculomegaly		HP:0040283		orphadata	ORPHA:199
8243	SMC1A	HP:0000470	Short neck		HP:0040281		orphadata	ORPHA:199
8243	SMC1A	HP:0008736	Hypoplasia of penis		HP:0040282		orphadata	ORPHA:199
8243	SMC1A	HP:0007665	Curly eyelashes		HP:0040281		orphadata	ORPHA:199
8243	SMC1A	HP:0001252	Muscular hypotonia		HP:0040283		orphadata	ORPHA:199
8243	SMC1A	HP:0000003	Multicystic kidney dysplasia		HP:0040282		orphadata	ORPHA:199
8243	SMC1A	HP:0010034	Short 1st metacarpal		HP:0040281		orphadata	ORPHA:199
8243	SMC1A	HP:0000501	Glaucoma		HP:0040283		orphadata	ORPHA:199
8243	SMC1A	HP:0002020	Gastroesophageal reflux		HP:0040281		orphadata	ORPHA:199
8243	SMC1A	HP:0000252	Microcephaly		HP:0040281		orphadata	ORPHA:199
8243	SMC1A	HP:0001629	Ventricular septal defect		HP:0040283		orphadata	ORPHA:199
8243	SMC1A	HP:0000076	Vesicoureteral reflux		HP:0040282		orphadata	ORPHA:199
8243	SMC1A	HP:0000687	Widely spaced teeth		HP:0040281		orphadata	ORPHA:199
8243	SMC1A	HP:0010864	Intellectual disability, severe		HP:0040281		orphadata	ORPHA:199
8243	SMC1A	HP:0003042	Elbow dislocation		HP:0040282		orphadata	ORPHA:199
8243	SMC1A	HP:0002566	Intestinal malrotation		HP:0040283		orphadata	ORPHA:199
8243	SMC1A	HP:0000965	Cutis marmorata		HP:0040282		orphadata	ORPHA:199
8243	SMC1A	HP:0001622	Premature birth		HP:0040282		orphadata	ORPHA:199
8243	SMC1A	HP:0000319	Smooth philtrum			-	mim2gene	OMIM:300590
8243	SMC1A	HP:0001263	Global developmental delay			-	mim2gene	OMIM:300590
8243	SMC1A	HP:0100543	Cognitive impairment			-	mim2gene	OMIM:300590
8243	SMC1A	HP:0001250	Seizures		HP:0040283	-	mim2gene	OMIM:300590
8243	SMC1A	HP:0004322	Short stature			-	mim2gene	OMIM:300590
8243	SMC1A	HP:0000965	Cutis marmorata			-	mim2gene	OMIM:300590
8243	SMC1A	HP:0002465	Poor speech			-	mim2gene	OMIM:300590
8243	SMC1A	HP:0000252	Microcephaly			-	mim2gene	OMIM:300590
8243	SMC1A	HP:0000426	Prominent nasal bridge			-	mim2gene	OMIM:300590
8243	SMC1A	HP:0001511	Intrauterine growth retardation			-	mim2gene	OMIM:300590
8243	SMC1A	HP:0030084	Clinodactyly			-	mim2gene	OMIM:300590
8243	SMC1A	HP:0000508	Ptosis			-	mim2gene	OMIM:300590
8243	SMC1A	HP:0001773	Short foot			-	mim2gene	OMIM:300590
8243	SMC1A	HP:0200055	Small hand			-	mim2gene	OMIM:300590
8243	SMC1A	HP:0000218	High palate			-	mim2gene	OMIM:300590
8243	SMC1A	HP:0000294	Low anterior hairline			-	mim2gene	OMIM:300590
8243	SMC1A	HP:0000347	Micrognathia			-	mim2gene	OMIM:300590
8243	SMC1A	HP:0001156	Brachydactyly			-	mim2gene	OMIM:300590
8243	SMC1A	HP:0002119	Ventriculomegaly			-	mim2gene	OMIM:300590
8243	SMC1A	HP:0002553	Highly arched eyebrow			-	mim2gene	OMIM:300590
8243	SMC1A	HP:0000574	Thick eyebrow			-	mim2gene	OMIM:300590
8243	SMC1A	HP:0001423	X-linked dominant inheritance			-	mim2gene	OMIM:300590
8243	SMC1A	HP:0000248	Brachycephaly			-	mim2gene	OMIM:300590
8243	SMC1A	HP:0000463	Anteverted nares			-	mim2gene	OMIM:300590
8243	SMC1A	HP:0002020	Gastroesophageal reflux			-	mim2gene	OMIM:300590
8243	SMC1A	HP:0001007	Hirsutism			-	mim2gene	OMIM:300590
8243	SMC1A	HP:0001249	Intellectual disability			-	mim2gene	OMIM:300590
8243	SMC1A	HP:0009623	Proximal placement of thumb			-	mim2gene	OMIM:300590
8243	SMC1A	HP:0000527	Long eyelashes			-	mim2gene	OMIM:300590
8243	SMC1A	HP:0000664	Synophrys			-	mim2gene	OMIM:300590
8243	SMC1A	HP:0001419	X-linked recessive inheritance			-	mim2gene	OMIM:300590
8243	SMC1A	HP:0002714	Downturned corners of mouth			-	mim2gene	OMIM:300590
8243	SMC1A	HP:0002996	Limited elbow movement			-	mim2gene	OMIM:300590
8243	SMC1A	HP:0000219	Thin upper lip vermilion			-	mim2gene	OMIM:300590
8243	SMC1A	HP:0000494	Downslanted palpebral fissures			-	mim2gene	OMIM:300590
8243	SMC1A	HP:0008897	Postnatal growth retardation			-	mim2gene	OMIM:300590
8243	SMC1A	HP:0000341	Narrow forehead			-	mim2gene	OMIM:300590
8243	SMC1A	HP:0000470	Short neck			-	mim2gene	OMIM:300590
8243	SMC1A	HP:0001639	Hypertrophic cardiomyopathy		HP:0040283	-	mim2gene	OMIM:300590
51	ACOX1	HP:0001508	Failure to thrive		HP:0040282		orphadata	ORPHA:2971
51	ACOX1	HP:0001161	Hand polydactyly		HP:0040283		orphadata	ORPHA:2971
51	ACOX1	HP:0001347	Hyperreflexia		HP:0040281		orphadata	ORPHA:2971
51	ACOX1	HP:0000316	Hypertelorism		HP:0040282		orphadata	ORPHA:2971
51	ACOX1	HP:0002376	Developmental regression		HP:0040281		orphadata	ORPHA:2971
51	ACOX1	HP:0001250	Seizures		HP:0040281		orphadata	ORPHA:2971
51	ACOX1	HP:0002093	Respiratory insufficiency		HP:0040282		orphadata	ORPHA:2971
51	ACOX1	HP:0000286	Epicanthus		HP:0040282		orphadata	ORPHA:2971
51	ACOX1	HP:0000512	Abnormal electroretinogram		HP:0040281		orphadata	ORPHA:2971
51	ACOX1	HP:0000407	Sensorineural hearing impairment		HP:0040281		orphadata	ORPHA:2971
51	ACOX1	HP:0002353	EEG abnormality		HP:0040281		orphadata	ORPHA:2971
51	ACOX1	HP:0000486	Strabismus		HP:0040282		orphadata	ORPHA:2971
51	ACOX1	HP:0000668	Hypodontia		HP:0040281		orphadata	ORPHA:2971
51	ACOX1	HP:0001288	Gait disturbance		HP:0040281		orphadata	ORPHA:2971
51	ACOX1	HP:0000649	Abnormality of visual evoked potentials		HP:0040281		orphadata	ORPHA:2971
51	ACOX1	HP:0012639	Abnormality of nervous system morphology		HP:0040281		orphadata	ORPHA:2971
51	ACOX1	HP:0010864	Intellectual disability, severe		HP:0040281		orphadata	ORPHA:2971
51	ACOX1	HP:0000369	Low-set ears		HP:0040282		orphadata	ORPHA:2971
51	ACOX1	HP:0001263	Global developmental delay		HP:0040281		orphadata	ORPHA:2971
51	ACOX1	HP:0001939	Abnormality of metabolism/homeostasis		HP:0040281		orphadata	ORPHA:2971
51	ACOX1	HP:0000639	Nystagmus		HP:0040282		orphadata	ORPHA:2971
51	ACOX1	HP:0000648	Optic atrophy		HP:0040282		orphadata	ORPHA:2971
51	ACOX1	HP:0001252	Muscular hypotonia		HP:0040281		orphadata	ORPHA:2971
51	ACOX1	HP:0001522	Death in infancy		HP:0040282		orphadata	ORPHA:2971
51	ACOX1	HP:0002167	Neurological speech impairment		HP:0040281		orphadata	ORPHA:2971
51	ACOX1	HP:0005280	Depressed nasal bridge		HP:0040282		orphadata	ORPHA:2971
51	ACOX1	HP:0001276	Hypertonia		HP:0040283		orphadata	ORPHA:2971
51	ACOX1	HP:0002240	Hepatomegaly		HP:0040282		orphadata	ORPHA:2971
51	ACOX1	HP:0000545	Myopia		HP:0040282		orphadata	ORPHA:2971
51	ACOX1	HP:0002015	Dysphagia			-	mim2gene	OMIM:264470
51	ACOX1	HP:0000431	Wide nasal bridge			-	mim2gene	OMIM:264470
51	ACOX1	HP:0005280	Depressed nasal bridge			-	mim2gene	OMIM:264470
51	ACOX1	HP:0000639	Nystagmus			-	mim2gene	OMIM:264470
51	ACOX1	HP:0002007	Frontal bossing			-	mim2gene	OMIM:264470
51	ACOX1	HP:0002240	Hepatomegaly			-	mim2gene	OMIM:264470
51	ACOX1	HP:0000486	Strabismus			-	mim2gene	OMIM:264470
51	ACOX1	HP:0000737	Irritability			-	mim2gene	OMIM:264470
51	ACOX1	HP:0007305	CNS demyelination			-	mim2gene	OMIM:264470
51	ACOX1	HP:0008619	Bilateral sensorineural hearing impairment			-	mim2gene	OMIM:264470
51	ACOX1	HP:0003593	Infantile onset			-	mim2gene	OMIM:264470
51	ACOX1	HP:0003186	Inverted nipples			-	mim2gene	OMIM:264470
51	ACOX1	HP:0002415	Leukodystrophy			-	mim2gene	OMIM:264470
51	ACOX1	HP:0003487	Babinski sign			-	mim2gene	OMIM:264470
51	ACOX1	HP:0000369	Low-set ears			-	mim2gene	OMIM:264470
51	ACOX1	HP:0001332	Dystonia			-	mim2gene	OMIM:264470
51	ACOX1	HP:0001319	Neonatal hypotonia			-	mim2gene	OMIM:264470
51	ACOX1	HP:0000510	Rod-cone dystrophy			-	mim2gene	OMIM:264470
51	ACOX1	HP:0001250	Seizures			-	mim2gene	OMIM:264470
51	ACOX1	HP:0006555	Diffuse hepatic steatosis			-	mim2gene	OMIM:264470
51	ACOX1	HP:0002376	Developmental regression			-	mim2gene	OMIM:264470
51	ACOX1	HP:0006887	Intellectual disability, progressive			-	mim2gene	OMIM:264470
51	ACOX1	HP:0000248	Brachycephaly			-	mim2gene	OMIM:264470
51	ACOX1	HP:0008763	No social interaction			-	mim2gene	OMIM:264470
51	ACOX1	HP:0010864	Intellectual disability, severe			-	mim2gene	OMIM:264470
51	ACOX1	HP:0002910	Elevated hepatic transaminase			-	mim2gene	OMIM:264470
51	ACOX1	HP:0000580	Pigmentary retinopathy			-	mim2gene	OMIM:264470
51	ACOX1	HP:0001276	Hypertonia			-	mim2gene	OMIM:264470
51	ACOX1	HP:0000316	Hypertelorism			-	mim2gene	OMIM:264470
51	ACOX1	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude			-	mim2gene	OMIM:264470
51	ACOX1	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:264470
51	ACOX1	HP:0000648	Optic atrophy			-	mim2gene	OMIM:264470
51	ACOX1	HP:0011344	Severe global developmental delay			-	mim2gene	OMIM:264470
53	ACP2	HP:0001290	Generalized hypotonia			question	mim2gene	OMIM:200950
53	ACP2	HP:0001252	Muscular hypotonia			question	mim2gene	OMIM:200950
53	ACP2	HP:0002013	Vomiting			question	mim2gene	OMIM:200950
53	ACP2	HP:0000007	Autosomal recessive inheritance			question	mim2gene	OMIM:200950
53	ACP2	HP:0001892	Abnormal bleeding			question	mim2gene	OMIM:200950
53	ACP2	HP:0002179	Opisthotonus			question	mim2gene	OMIM:200950
90167	FRMD7	HP:0006934	Congenital nystagmus			-	mim2gene	OMIM:310700
90167	FRMD7	HP:0001419	X-linked recessive inheritance			-	mim2gene	OMIM:310700
90167	FRMD7	HP:0001423	X-linked dominant inheritance			-	mim2gene	OMIM:310700
90167	FRMD7	HP:0007663	Reduced visual acuity			-	mim2gene	OMIM:310700
90167	FRMD7	HP:0012043	Pendular nystagmus			-	mim2gene	OMIM:310700
90167	FRMD7	HP:0000666	Horizontal nystagmus			-	mim2gene	OMIM:310700
90167	FRMD7	HP:0001425	Heterogeneous			-	mim2gene	OMIM:310700
90167	FRMD7	HP:0003593	Infantile onset			-	mim2gene	OMIM:310700
90167	FRMD7	HP:0032037	Mildly reduced visual acuity			-	mim2gene	OMIM:310700
54	ACP5	HP:0002751	Kyphoscoliosis			-	mim2gene	OMIM:607944
54	ACP5	HP:0004322	Short stature			-	mim2gene	OMIM:607944
54	ACP5	HP:0007526	Hypopigmented skin patches on arms			-	mim2gene	OMIM:607944
54	ACP5	HP:0000821	Hypothyroidism			-	mim2gene	OMIM:607944
54	ACP5	HP:0005403	Decrease in T cell count			-	mim2gene	OMIM:607944
54	ACP5	HP:0001045	Vitiligo			-	mim2gene	OMIM:607944
54	ACP5	HP:0001973	Autoimmune thrombocytopenia			-	mim2gene	OMIM:607944
54	ACP5	HP:0002205	Recurrent respiratory infections			-	mim2gene	OMIM:607944
54	ACP5	HP:0002938	Lumbar hyperlordosis			-	mim2gene	OMIM:607944
54	ACP5	HP:0002091	Restrictive ventilatory defect			-	mim2gene	OMIM:607944
54	ACP5	HP:0003621	Juvenile onset			-	mim2gene	OMIM:607944
54	ACP5	HP:0000979	Purpura			-	mim2gene	OMIM:607944
54	ACP5	HP:0000460	Narrow nose			-	mim2gene	OMIM:607944
54	ACP5	HP:0001034	Hypermelanotic macule			-	mim2gene	OMIM:607944
54	ACP5	HP:0003025	Metaphyseal irregularity			-	mim2gene	OMIM:607944
54	ACP5	HP:0005387	Combined immunodeficiency			-	mim2gene	OMIM:607944
54	ACP5	HP:0004979	Metaphyseal sclerosis			-	mim2gene	OMIM:607944
54	ACP5	HP:0005576	Tubulointerstitial fibrosis			-	mim2gene	OMIM:607944
54	ACP5	HP:0002958	Immune dysregulation			-	mim2gene	OMIM:607944
54	ACP5	HP:0005681	Juvenile rheumatoid arthritis			-	mim2gene	OMIM:607944
54	ACP5	HP:0000369	Low-set ears			-	mim2gene	OMIM:607944
54	ACP5	HP:0000926	Platyspondyly			-	mim2gene	OMIM:607944
54	ACP5	HP:0000403	Recurrent otitis media			-	mim2gene	OMIM:607944
54	ACP5	HP:0002090	Pneumonia			-	mim2gene	OMIM:607944
54	ACP5	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:607944
54	ACP5	HP:0002478	Progressive spastic quadriplegia			-	mim2gene	OMIM:607944
54	ACP5	HP:0002716	Lymphadenopathy			-	mim2gene	OMIM:607944
54	ACP5	HP:0011108	Recurrent sinusitis			-	mim2gene	OMIM:607944
54	ACP5	HP:0001264	Spastic diplegia			-	mim2gene	OMIM:607944
54	ACP5	HP:0003301	Irregular vertebral endplates			-	mim2gene	OMIM:607944
54	ACP5	HP:0001256	Intellectual disability, mild		HP:0040283	-	mim2gene	OMIM:607944
54	ACP5	HP:0005374	Cellular immunodeficiency			-	mim2gene	OMIM:607944
54	ACP5	HP:0002657	Spondylometaphyseal dysplasia			-	mim2gene	OMIM:607944
54	ACP5	HP:0005930	Abnormality of epiphysis morphology		HP:0040282		orphadata	ORPHA:1855
54	ACP5	HP:0002808	Kyphosis		HP:0040281		orphadata	ORPHA:1855
54	ACP5	HP:0003312	Abnormal form of the vertebral bodies		HP:0040281		orphadata	ORPHA:1855
54	ACP5	HP:0002983	Micromelia		HP:0040281		orphadata	ORPHA:1855
54	ACP5	HP:0008818	Large iliac wings		HP:0040282		orphadata	ORPHA:1855
54	ACP5	HP:0003307	Hyperlordosis		HP:0040281		orphadata	ORPHA:1855
54	ACP5	HP:0008905	Rhizomelia		HP:0040281		orphadata	ORPHA:1855
54	ACP5	HP:0000684	Delayed eruption of teeth		HP:0040282		orphadata	ORPHA:1855
54	ACP5	HP:0000944	Abnormality of the metaphysis		HP:0040281		orphadata	ORPHA:1855
58	ACTA1	HP:0001761	Pes cavus		HP:0040283		orphadata	ORPHA:171439
58	ACTA1	HP:0000508	Ptosis		HP:0040284		orphadata	ORPHA:171439
58	ACTA1	HP:0001623	Breech presentation		HP:0040283		orphadata	ORPHA:171439
58	ACTA1	HP:0003552	Muscle stiffness		HP:0040282		orphadata	ORPHA:171439
58	ACTA1	HP:0002515	Waddling gait		HP:0040283		orphadata	ORPHA:171439
58	ACTA1	HP:0009058	Increased muscle lipid content		HP:0040282		orphadata	ORPHA:171439
58	ACTA1	HP:0002804	Arthrogryposis multiplex congenita		HP:0040284		orphadata	ORPHA:171439
58	ACTA1	HP:0011968	Feeding difficulties		HP:0040283		orphadata	ORPHA:171439
58	ACTA1	HP:0002747	Respiratory insufficiency due to muscle weakness		HP:0040283		orphadata	ORPHA:171439
58	ACTA1	HP:0001290	Generalized hypotonia		HP:0040283		orphadata	ORPHA:171439
58	ACTA1	HP:0003798	Nemaline bodies		HP:0040281		orphadata	ORPHA:171439
58	ACTA1	HP:0000347	Micrognathia		HP:0040283		orphadata	ORPHA:171439
58	ACTA1	HP:0002650	Scoliosis		HP:0040283		orphadata	ORPHA:171439
58	ACTA1	HP:0001533	Slender build		HP:0040283		orphadata	ORPHA:171439
58	ACTA1	HP:0001284	Areflexia		HP:0040283		orphadata	ORPHA:171439
58	ACTA1	HP:0003691	Scapular winging		HP:0040283		orphadata	ORPHA:171439
58	ACTA1	HP:0003306	Spinal rigidity		HP:0040282		orphadata	ORPHA:171439
58	ACTA1	HP:0003557	Increased variability in muscle fiber diameter		HP:0040282		orphadata	ORPHA:171439
58	ACTA1	HP:0002068	Neuromuscular dysphagia		HP:0040282		orphadata	ORPHA:171439
58	ACTA1	HP:0000467	Neck muscle weakness		HP:0040283		orphadata	ORPHA:171439
58	ACTA1	HP:0002312	Clumsiness		HP:0040282		orphadata	ORPHA:171439
58	ACTA1	HP:0003546	Exercise intolerance		HP:0040282		orphadata	ORPHA:171439
58	ACTA1	HP:0001270	Motor delay		HP:0040282		orphadata	ORPHA:171439
58	ACTA1	HP:0009055	Generalized limb muscle atrophy		HP:0040282		orphadata	ORPHA:171439
58	ACTA1	HP:0002355	Difficulty walking		HP:0040282		orphadata	ORPHA:171439
58	ACTA1	HP:0002483	Bulbar signs		HP:0040283		orphadata	ORPHA:171439
58	ACTA1	HP:0003690	Limb muscle weakness		HP:0040282		orphadata	ORPHA:171439
58	ACTA1	HP:0000218	High palate		HP:0040283		orphadata	ORPHA:171439
58	ACTA1	HP:0000276	Long face		HP:0040283		orphadata	ORPHA:171439
58	ACTA1	HP:0001989	Fetal akinesia sequence		HP:0040283		orphadata	ORPHA:171439
58	ACTA1	HP:0002792	Reduced vital capacity		HP:0040283		orphadata	ORPHA:171439
58	ACTA1	HP:0000275	Narrow face		HP:0040283		orphadata	ORPHA:171439
58	ACTA1	HP:0001349	Facial diplegia		HP:0040283		orphadata	ORPHA:171439
58	ACTA1	HP:0002067	Bradykinesia		HP:0040282		orphadata	ORPHA:171439
58	ACTA1	HP:0003803	Type 1 muscle fiber predominance		HP:0040282		orphadata	ORPHA:171439
58	ACTA1	HP:0001638	Cardiomyopathy		HP:0040283		orphadata	ORPHA:171439
58	ACTA1	HP:0001265	Hyporeflexia		HP:0040282		orphadata	ORPHA:171439
58	ACTA1	HP:0003458	EMG: myopathic abnormalities		HP:0040281		orphadata	ORPHA:171439
58	ACTA1	HP:0001561	Polyhydramnios		HP:0040284		orphadata	ORPHA:171439
58	ACTA1	HP:0000316	Hypertelorism		HP:0040283		orphadata	ORPHA:171439
58	ACTA1	HP:0000774	Narrow chest		HP:0040283		orphadata	ORPHA:171439
58	ACTA1	HP:0030192	Fatigable weakness of bulbar muscles		HP:0040283		orphadata	ORPHA:171439
58	ACTA1	HP:0008180	Mildly elevated creatine kinase		HP:0040283		orphadata	ORPHA:171439
58	ACTA1	HP:0001181	Adducted thumb		HP:0040283		orphadata	ORPHA:171430
58	ACTA1	HP:0006829	Severe muscular hypotonia		HP:0040282		orphadata	ORPHA:171430
58	ACTA1	HP:0000054	Micropenis		HP:0040283		orphadata	ORPHA:171430
58	ACTA1	HP:0002804	Arthrogryposis multiplex congenita		HP:0040283		orphadata	ORPHA:171430
58	ACTA1	HP:0002375	Hypokinesia		HP:0040282		orphadata	ORPHA:171430
58	ACTA1	HP:0003327	Axial muscle weakness		HP:0040282		orphadata	ORPHA:171430
58	ACTA1	HP:0009025	Increased connective tissue		HP:0040282		orphadata	ORPHA:171430
58	ACTA1	HP:0001623	Breech presentation		HP:0040282		orphadata	ORPHA:171430
58	ACTA1	HP:0002878	Respiratory failure		HP:0040282		orphadata	ORPHA:171430
58	ACTA1	HP:0000883	Thin ribs		HP:0040283		orphadata	ORPHA:171430
58	ACTA1	HP:0000239	Large fontanelles		HP:0040283		orphadata	ORPHA:171430
58	ACTA1	HP:0002015	Dysphagia		HP:0040282		orphadata	ORPHA:171430
58	ACTA1	HP:0003202	Skeletal muscle atrophy		HP:0040282		orphadata	ORPHA:171430
58	ACTA1	HP:0000047	Hypospadias		HP:0040283		orphadata	ORPHA:171430
58	ACTA1	HP:0001561	Polyhydramnios		HP:0040282		orphadata	ORPHA:171430
58	ACTA1	HP:0003803	Type 1 muscle fiber predominance		HP:0040282		orphadata	ORPHA:171430
58	ACTA1	HP:0001558	Decreased fetal movement		HP:0040282		orphadata	ORPHA:171430
58	ACTA1	HP:0000775	Abnormality of the diaphragm		HP:0040283		orphadata	ORPHA:171430
58	ACTA1	HP:0001622	Premature birth		HP:0040283		orphadata	ORPHA:171430
58	ACTA1	HP:0003798	Nemaline bodies		HP:0040282		orphadata	ORPHA:171430
58	ACTA1	HP:0005855	Multiple prenatal fractures		HP:0040282		orphadata	ORPHA:171430
58	ACTA1	HP:0001270	Motor delay		HP:0040282		orphadata	ORPHA:171430
58	ACTA1	HP:0002089	Pulmonary hypoplasia		HP:0040283		orphadata	ORPHA:171430
58	ACTA1	HP:0000369	Low-set ears		HP:0040283		orphadata	ORPHA:171430
58	ACTA1	HP:0001349	Facial diplegia		HP:0040283		orphadata	ORPHA:171430
58	ACTA1	HP:0007514	Edema of the dorsum of hands		HP:0040283		orphadata	ORPHA:171430
58	ACTA1	HP:0000602	Ophthalmoplegia		HP:0040283		orphadata	ORPHA:171430
58	ACTA1	HP:0002515	Waddling gait		HP:0040281		orphadata	ORPHA:97240
58	ACTA1	HP:0003236	Elevated serum creatine kinase		HP:0040281		orphadata	ORPHA:97240
58	ACTA1	HP:0003798	Nemaline bodies		HP:0040281		orphadata	ORPHA:97240
58	ACTA1	HP:0003391	Gowers sign		HP:0040281		orphadata	ORPHA:97240
58	ACTA1	HP:0001263	Global developmental delay		HP:0040281		orphadata	ORPHA:97240
58	ACTA1	HP:0002460	Distal muscle weakness		HP:0040281		orphadata	ORPHA:97240
58	ACTA1	HP:0006785	Limb-girdle muscular dystrophy		HP:0040281		orphadata	ORPHA:97240
58	ACTA1	HP:0001319	Neonatal hypotonia		HP:0040281		orphadata	ORPHA:97240
58	ACTA1	HP:0003736	Autophagic vacuoles		HP:0040281		orphadata	ORPHA:97240
58	ACTA1	HP:0003551	Difficulty climbing stairs		HP:0040281		orphadata	ORPHA:97240
58	ACTA1	HP:0003715	Myofibrillar myopathy		HP:0040281		orphadata	ORPHA:97240
58	ACTA1	HP:0003555	Muscle fiber splitting		HP:0040281		orphadata	ORPHA:97240
58	ACTA1	HP:0010628	Facial palsy		HP:0040281		orphadata	ORPHA:97240
58	ACTA1	HP:0012899	Handgrip myotonia		HP:0040281		orphadata	ORPHA:97240
58	ACTA1	HP:0003805	Rimmed vacuoles		HP:0040281		orphadata	ORPHA:97240
58	ACTA1	HP:0001558	Decreased fetal movement		HP:0040281		orphadata	ORPHA:97240
58	ACTA1	HP:0003327	Axial muscle weakness		HP:0040281		orphadata	ORPHA:97240
58	ACTA1	HP:0000467	Neck muscle weakness		HP:0040281		orphadata	ORPHA:97240
58	ACTA1	HP:0003458	EMG: myopathic abnormalities		HP:0040281		orphadata	ORPHA:97240
58	ACTA1	HP:0003713	Muscle fiber necrosis		HP:0040282		orphadata	ORPHA:97240
58	ACTA1	HP:0000473	Torticollis		HP:0040281		orphadata	ORPHA:97240
58	ACTA1	HP:0001284	Areflexia			-	mim2gene	OMIM:161800
58	ACTA1	HP:0002515	Waddling gait			-	mim2gene	OMIM:161800
58	ACTA1	HP:0001561	Polyhydramnios			-	mim2gene	OMIM:161800
58	ACTA1	HP:0002804	Arthrogryposis multiplex congenita			-	mim2gene	OMIM:161800
58	ACTA1	HP:0000218	High palate			-	mim2gene	OMIM:161800
58	ACTA1	HP:0003701	Proximal muscle weakness			-	mim2gene	OMIM:161800
58	ACTA1	HP:0002650	Scoliosis			-	mim2gene	OMIM:161800
58	ACTA1	HP:0002063	Rigidity		HP:0040283	-	mim2gene	OMIM:161800
58	ACTA1	HP:0010628	Facial palsy			-	mim2gene	OMIM:161800
58	ACTA1	HP:0000278	Retrognathia			-	mim2gene	OMIM:161800
58	ACTA1	HP:0003798	Nemaline bodies			-	mim2gene	OMIM:161800
58	ACTA1	HP:0003810	Late-onset distal muscle weakness			-	mim2gene	OMIM:161800
58	ACTA1	HP:0002058	Myopathic facies			-	mim2gene	OMIM:161800
58	ACTA1	HP:0002747	Respiratory insufficiency due to muscle weakness			-	mim2gene	OMIM:161800
58	ACTA1	HP:0001347	Hyperreflexia		HP:0040283	-	mim2gene	OMIM:161800
58	ACTA1	HP:0001319	Neonatal hypotonia			-	mim2gene	OMIM:161800
58	ACTA1	HP:0003307	Hyperlordosis			-	mim2gene	OMIM:161800
58	ACTA1	HP:0001533	Slender build			-	mim2gene	OMIM:161800
58	ACTA1	HP:0002359	Frequent falls			-	mim2gene	OMIM:161800
58	ACTA1	HP:0001644	Dilated cardiomyopathy		HP:0040283	-	mim2gene	OMIM:161800
58	ACTA1	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:161800
58	ACTA1	HP:0003458	EMG: myopathic abnormalities			-	mim2gene	OMIM:161800
58	ACTA1	HP:0003324	Generalized muscle weakness			-	mim2gene	OMIM:161800
58	ACTA1	HP:0003445	EMG: neuropathic changes			-	mim2gene	OMIM:161800
58	ACTA1	HP:0003803	Type 1 muscle fiber predominance			-	mim2gene	OMIM:161800
58	ACTA1	HP:0003306	Spinal rigidity			-	mim2gene	OMIM:161800
58	ACTA1	HP:0000298	Mask-like facies			-	mim2gene	OMIM:161800
58	ACTA1	HP:0001283	Bulbar palsy			-	mim2gene	OMIM:161800
58	ACTA1	HP:0001270	Motor delay			-	mim2gene	OMIM:161800
58	ACTA1	HP:0001276	Hypertonia		HP:0040283	-	mim2gene	OMIM:161800
58	ACTA1	HP:0008180	Mildly elevated creatine kinase			-	mim2gene	OMIM:161800
58	ACTA1	HP:0008872	Feeding difficulties in infancy			-	mim2gene	OMIM:161800
58	ACTA1	HP:0001761	Pes cavus			-	mim2gene	OMIM:161800
58	ACTA1	HP:0002015	Dysphagia			-	mim2gene	OMIM:161800
58	ACTA1	HP:0003722	Neck flexor weakness			-	mim2gene	OMIM:161800
58	ACTA1	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:161800
58	ACTA1	HP:0001425	Heterogeneous			-	mim2gene	OMIM:161800
58	ACTA1	HP:0001265	Hyporeflexia			-	mim2gene	OMIM:161800
58	ACTA1	HP:0003690	Limb muscle weakness			-	mim2gene	OMIM:161800
58	ACTA1	HP:0001558	Decreased fetal movement			-	mim2gene	OMIM:161800
58	ACTA1	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:255310
58	ACTA1	HP:0001508	Failure to thrive			-	mim2gene	OMIM:255310
58	ACTA1	HP:0000508	Ptosis			-	mim2gene	OMIM:255310
58	ACTA1	HP:0002015	Dysphagia			-	mim2gene	OMIM:255310
58	ACTA1	HP:0010628	Facial palsy			-	mim2gene	OMIM:255310
58	ACTA1	HP:0032341	Reduced forced vital capacity			-	mim2gene	OMIM:255310
58	ACTA1	HP:0001283	Bulbar palsy			-	mim2gene	OMIM:255310
58	ACTA1	HP:0001558	Decreased fetal movement			-	mim2gene	OMIM:255310
58	ACTA1	HP:0001374	Congenital hip dislocation	13%		-	mim2gene	OMIM:255310
58	ACTA1	HP:0000276	Long face			-	mim2gene	OMIM:255310
58	ACTA1	HP:0003828	Variable expressivity			-	mim2gene	OMIM:255310
58	ACTA1	HP:0000218	High palate			-	mim2gene	OMIM:255310
58	ACTA1	HP:0001644	Dilated cardiomyopathy			-	mim2gene	OMIM:255310
58	ACTA1	HP:0003687	Centrally nucleated skeletal muscle fibers			-	mim2gene	OMIM:255310
58	ACTA1	HP:0003121	Limb joint contracture	25%		-	mim2gene	OMIM:255310
58	ACTA1	HP:0002747	Respiratory insufficiency due to muscle weakness			-	mim2gene	OMIM:255310
58	ACTA1	HP:0003701	Proximal muscle weakness			-	mim2gene	OMIM:255310
58	ACTA1	HP:0000275	Narrow face			-	mim2gene	OMIM:255310
58	ACTA1	HP:0001319	Neonatal hypotonia			-	mim2gene	OMIM:255310
58	ACTA1	HP:0003577	Congenital onset			-	mim2gene	OMIM:255310
58	ACTA1	HP:0003755	Type 1 fibers relatively smaller than type 2 fibers			-	mim2gene	OMIM:255310
58	ACTA1	HP:0002093	Respiratory insufficiency			-	mim2gene	OMIM:255310
58	ACTA1	HP:0002650	Scoliosis	25%		-	mim2gene	OMIM:255310
58	ACTA1	HP:0001612	Weak cry			-	mim2gene	OMIM:255310
58	ACTA1	HP:0001425	Heterogeneous			-	mim2gene	OMIM:255310
58	ACTA1	HP:0002938	Lumbar hyperlordosis			-	mim2gene	OMIM:255310
58	ACTA1	HP:0011968	Feeding difficulties			-	mim2gene	OMIM:255310
58	ACTA1	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:255310
58	ACTA1	HP:0003324	Generalized muscle weakness			-	mim2gene	OMIM:255310
58	ACTA1	HP:0000602	Ophthalmoplegia	20%		-	mim2gene	OMIM:255310
58	ACTA1	HP:0001263	Global developmental delay		HP:0040283		orphadata	ORPHA:97244
58	ACTA1	HP:0002090	Pneumonia		HP:0040282		orphadata	ORPHA:97244
58	ACTA1	HP:0003198	Myopathy		HP:0040281		orphadata	ORPHA:97244
58	ACTA1	HP:0003273	Hip contracture		HP:0040282		orphadata	ORPHA:97244
58	ACTA1	HP:0002421	Poor head control		HP:0040282		orphadata	ORPHA:97244
58	ACTA1	HP:0003307	Hyperlordosis		HP:0040282		orphadata	ORPHA:97244
58	ACTA1	HP:0003089	Hamstring contractures		HP:0040282		orphadata	ORPHA:97244
58	ACTA1	HP:0000467	Neck muscle weakness		HP:0040281		orphadata	ORPHA:97244
58	ACTA1	HP:0002650	Scoliosis		HP:0040281		orphadata	ORPHA:97244
58	ACTA1	HP:0001290	Generalized hypotonia		HP:0040281		orphadata	ORPHA:97244
58	ACTA1	HP:0002515	Waddling gait		HP:0040283		orphadata	ORPHA:97244
58	ACTA1	HP:0002987	Elbow flexion contracture		HP:0040282		orphadata	ORPHA:97244
58	ACTA1	HP:0003306	Spinal rigidity		HP:0040281		orphadata	ORPHA:97244
58	ACTA1	HP:0003391	Gowers sign		HP:0040283		orphadata	ORPHA:97244
58	ACTA1	HP:0001265	Hyporeflexia		HP:0040282		orphadata	ORPHA:97244
58	ACTA1	HP:0002093	Respiratory insufficiency		HP:0040281		orphadata	ORPHA:97244
58	ACTA1	HP:0031546	Cardiac conduction abnormality		HP:0040282		orphadata	ORPHA:97244
58	ACTA1	HP:0003202	Skeletal muscle atrophy		HP:0040282		orphadata	ORPHA:97244
58	ACTA1	HP:0030878	Abnormality on pulmonary function testing		HP:0040282		orphadata	ORPHA:97244
58	ACTA1	HP:0005855	Multiple prenatal fractures		HP:0040282		orphadata	ORPHA:171433
58	ACTA1	HP:0002878	Respiratory failure		HP:0040282		orphadata	ORPHA:171433
58	ACTA1	HP:0001265	Hyporeflexia		HP:0040282		orphadata	ORPHA:171433
58	ACTA1	HP:0002015	Dysphagia		HP:0040282		orphadata	ORPHA:171433
58	ACTA1	HP:0000316	Hypertelorism		HP:0040283		orphadata	ORPHA:171433
58	ACTA1	HP:0003803	Type 1 muscle fiber predominance		HP:0040282		orphadata	ORPHA:171433
58	ACTA1	HP:0001558	Decreased fetal movement		HP:0040282		orphadata	ORPHA:171433
58	ACTA1	HP:0000765	Abnormality of the thorax		HP:0040282		orphadata	ORPHA:171433
58	ACTA1	HP:0001349	Facial diplegia		HP:0040283		orphadata	ORPHA:171433
58	ACTA1	HP:0000369	Low-set ears		HP:0040283		orphadata	ORPHA:171433
58	ACTA1	HP:0001270	Motor delay		HP:0040282		orphadata	ORPHA:171433
58	ACTA1	HP:0002058	Myopathic facies		HP:0040282		orphadata	ORPHA:171433
58	ACTA1	HP:0003324	Generalized muscle weakness		HP:0040281		orphadata	ORPHA:171433
58	ACTA1	HP:0002804	Arthrogryposis multiplex congenita		HP:0040284		orphadata	ORPHA:171433
58	ACTA1	HP:0002705	High, narrow palate		HP:0040283		orphadata	ORPHA:171433
58	ACTA1	HP:0002355	Difficulty walking		HP:0040282		orphadata	ORPHA:171433
58	ACTA1	HP:0000602	Ophthalmoplegia		HP:0040283		orphadata	ORPHA:171433
58	ACTA1	HP:0000343	Long philtrum		HP:0040283		orphadata	ORPHA:171433
58	ACTA1	HP:0002375	Hypokinesia		HP:0040282		orphadata	ORPHA:171433
58	ACTA1	HP:0003798	Nemaline bodies		HP:0040281		orphadata	ORPHA:171433
58	ACTA1	HP:0001622	Premature birth		HP:0040283		orphadata	ORPHA:171433
58	ACTA1	HP:0001284	Areflexia		HP:0040283		orphadata	ORPHA:171433
58	ACTA1	HP:0001561	Polyhydramnios		HP:0040282		orphadata	ORPHA:171433
58	ACTA1	HP:0003202	Skeletal muscle atrophy		HP:0040282		orphadata	ORPHA:171433
58	ACTA1	HP:0003458	EMG: myopathic abnormalities		HP:0040282		orphadata	ORPHA:171433
58	ACTA1	HP:0006829	Severe muscular hypotonia		HP:0040281		orphadata	ORPHA:171433
58	ACTA1	HP:0001388	Joint laxity		HP:0040282		orphadata	ORPHA:2020
58	ACTA1	HP:0001558	Decreased fetal movement		HP:0040282		orphadata	ORPHA:2020
58	ACTA1	HP:0003691	Scapular winging		HP:0040283		orphadata	ORPHA:2020
58	ACTA1	HP:0001612	Weak cry		HP:0040282		orphadata	ORPHA:2020
58	ACTA1	HP:0000347	Micrognathia		HP:0040283		orphadata	ORPHA:2020
58	ACTA1	HP:0004322	Short stature		HP:0040283		orphadata	ORPHA:2020
58	ACTA1	HP:0006466	Ankle flexion contracture		HP:0040282		orphadata	ORPHA:2020
58	ACTA1	HP:0001561	Polyhydramnios		HP:0040283		orphadata	ORPHA:2020
58	ACTA1	HP:0003324	Generalized muscle weakness		HP:0040281		orphadata	ORPHA:2020
58	ACTA1	HP:0002792	Reduced vital capacity		HP:0040282		orphadata	ORPHA:2020
58	ACTA1	HP:0001249	Intellectual disability		HP:0040284		orphadata	ORPHA:2020
58	ACTA1	HP:0003458	EMG: myopathic abnormalities		HP:0040282		orphadata	ORPHA:2020
58	ACTA1	HP:0000218	High palate		HP:0040282		orphadata	ORPHA:2020
58	ACTA1	HP:0002987	Elbow flexion contracture		HP:0040283		orphadata	ORPHA:2020
58	ACTA1	HP:0002515	Waddling gait		HP:0040282		orphadata	ORPHA:2020
58	ACTA1	HP:0003273	Hip contracture		HP:0040282		orphadata	ORPHA:2020
58	ACTA1	HP:0000276	Long face		HP:0040282		orphadata	ORPHA:2020
58	ACTA1	HP:0001762	Talipes equinovarus		HP:0040283		orphadata	ORPHA:2020
58	ACTA1	HP:0030192	Fatigable weakness of bulbar muscles		HP:0040282		orphadata	ORPHA:2020
58	ACTA1	HP:0002205	Recurrent respiratory infections		HP:0040282		orphadata	ORPHA:2020
58	ACTA1	HP:0001374	Congenital hip dislocation		HP:0040283		orphadata	ORPHA:2020
58	ACTA1	HP:0012785	Flexion contracture of finger		HP:0040283		orphadata	ORPHA:2020
58	ACTA1	HP:0000602	Ophthalmoplegia		HP:0040283		orphadata	ORPHA:2020
58	ACTA1	HP:0002033	Poor suck		HP:0040282		orphadata	ORPHA:2020
58	ACTA1	HP:0002089	Pulmonary hypoplasia		HP:0040283		orphadata	ORPHA:2020
58	ACTA1	HP:0000028	Cryptorchidism		HP:0040284		orphadata	ORPHA:2020
58	ACTA1	HP:0001270	Motor delay		HP:0040282		orphadata	ORPHA:2020
58	ACTA1	HP:0001508	Failure to thrive		HP:0040282		orphadata	ORPHA:2020
58	ACTA1	HP:0008981	Calf muscle hypertrophy		HP:0040283		orphadata	ORPHA:2020
58	ACTA1	HP:0001315	Reduced tendon reflexes		HP:0040281		orphadata	ORPHA:2020
58	ACTA1	HP:0008180	Mildly elevated creatine kinase		HP:0040282		orphadata	ORPHA:2020
58	ACTA1	HP:0011807	Type 1 muscle fiber atrophy		HP:0040282		orphadata	ORPHA:2020
58	ACTA1	HP:0000767	Pectus excavatum		HP:0040282		orphadata	ORPHA:2020
58	ACTA1	HP:0001252	Muscular hypotonia		HP:0040281		orphadata	ORPHA:2020
58	ACTA1	HP:0002747	Respiratory insufficiency due to muscle weakness		HP:0040282		orphadata	ORPHA:2020
58	ACTA1	HP:0002751	Kyphoscoliosis		HP:0040283		orphadata	ORPHA:2020
58	ACTA1	HP:0003307	Hyperlordosis		HP:0040283		orphadata	ORPHA:2020
58	ACTA1	HP:0010804	Tented upper lip vermilion		HP:0040282		orphadata	ORPHA:2020
58	ACTA1	HP:0006380	Knee flexion contracture		HP:0040283		orphadata	ORPHA:2020
58	ACTA1	HP:0001644	Dilated cardiomyopathy		HP:0040284		orphadata	ORPHA:2020
58	ACTA1	HP:0000508	Ptosis		HP:0040283		orphadata	ORPHA:2020
58	ACTA1	HP:0003327	Axial muscle weakness		HP:0040282		orphadata	ORPHA:171436
58	ACTA1	HP:0003557	Increased variability in muscle fiber diameter		HP:0040282		orphadata	ORPHA:171436
58	ACTA1	HP:0030196	Fatigable weakness of respiratory muscles		HP:0040283		orphadata	ORPHA:171436
58	ACTA1	HP:0003306	Spinal rigidity		HP:0040283		orphadata	ORPHA:171436
58	ACTA1	HP:0001265	Hyporeflexia		HP:0040282		orphadata	ORPHA:171436
58	ACTA1	HP:0002093	Respiratory insufficiency		HP:0040282		orphadata	ORPHA:171436
58	ACTA1	HP:0030198	Fatigable weakness of distal limb muscles		HP:0040282		orphadata	ORPHA:171436
58	ACTA1	HP:0000347	Micrognathia		HP:0040283		orphadata	ORPHA:171436
58	ACTA1	HP:0003236	Elevated serum creatine kinase		HP:0040283		orphadata	ORPHA:171436
58	ACTA1	HP:0002650	Scoliosis		HP:0040283		orphadata	ORPHA:171436
58	ACTA1	HP:0003803	Type 1 muscle fiber predominance		HP:0040282		orphadata	ORPHA:171436
58	ACTA1	HP:0000767	Pectus excavatum		HP:0040283		orphadata	ORPHA:171436
58	ACTA1	HP:0000774	Narrow chest		HP:0040283		orphadata	ORPHA:171436
58	ACTA1	HP:0003798	Nemaline bodies		HP:0040283		orphadata	ORPHA:171436
58	ACTA1	HP:0002857	Genu valgum		HP:0040283		orphadata	ORPHA:171436
58	ACTA1	HP:0003198	Myopathy		HP:0040283		orphadata	ORPHA:171436
58	ACTA1	HP:0003325	Limb-girdle muscle weakness		HP:0040282		orphadata	ORPHA:171436
58	ACTA1	HP:0009027	Foot dorsiflexor weakness		HP:0040282		orphadata	ORPHA:171436
58	ACTA1	HP:0001561	Polyhydramnios		HP:0040283		orphadata	ORPHA:171436
58	ACTA1	HP:0003307	Hyperlordosis		HP:0040283		orphadata	ORPHA:171436
58	ACTA1	HP:0002970	Genu varum		HP:0040283		orphadata	ORPHA:171436
58	ACTA1	HP:0002515	Waddling gait		HP:0040283		orphadata	ORPHA:171436
58	ACTA1	HP:0001319	Neonatal hypotonia		HP:0040282		orphadata	ORPHA:171436
58	ACTA1	HP:0002808	Kyphosis		HP:0040284		orphadata	ORPHA:171436
58	ACTA1	HP:0000218	High palate		HP:0040282		orphadata	ORPHA:171436
58	ACTA1	HP:0000275	Narrow face		HP:0040283		orphadata	ORPHA:171436
58	ACTA1	HP:0000508	Ptosis		HP:0040283		orphadata	ORPHA:171436
58	ACTA1	HP:0001349	Facial diplegia		HP:0040283		orphadata	ORPHA:171436
58	ACTA1	HP:0002375	Hypokinesia		HP:0040283		orphadata	ORPHA:171436
58	ACTA1	HP:0002804	Arthrogryposis multiplex congenita		HP:0040283		orphadata	ORPHA:171436
58	ACTA1	HP:0030200	Fatiguable weakness of proximal limb muscles		HP:0040283		orphadata	ORPHA:171436
58	ACTA1	HP:0003722	Neck flexor weakness		HP:0040282		orphadata	ORPHA:171436
58	ACTA1	HP:0002827	Hip dislocation		HP:0040283		orphadata	ORPHA:171436
58	ACTA1	HP:0000470	Short neck		HP:0040283		orphadata	ORPHA:171436
58	ACTA1	HP:0011968	Feeding difficulties		HP:0040283		orphadata	ORPHA:171436
58	ACTA1	HP:0002877	Nocturnal hypoventilation		HP:0040283		orphadata	ORPHA:171436
58	ACTA1	HP:0003307	Hyperlordosis			question	mim2gene	OMIM:616852
58	ACTA1	HP:0003323	Progressive muscle weakness			question	mim2gene	OMIM:616852
58	ACTA1	HP:0001265	Hyporeflexia			question	mim2gene	OMIM:616852
58	ACTA1	HP:0001315	Reduced tendon reflexes			question	mim2gene	OMIM:616852
58	ACTA1	HP:0003691	Scapular winging	9/11		question	mim2gene	OMIM:616852
58	ACTA1	HP:0003677	Slow progression			question	mim2gene	OMIM:616852
58	ACTA1	HP:0010628	Facial palsy			question	mim2gene	OMIM:616852
58	ACTA1	HP:0003687	Centrally nucleated skeletal muscle fibers			question	mim2gene	OMIM:616852
58	ACTA1	HP:0003722	Neck flexor weakness	12/12		question	mim2gene	OMIM:616852
58	ACTA1	HP:0009025	Increased connective tissue			question	mim2gene	OMIM:616852
58	ACTA1	HP:0003557	Increased variability in muscle fiber diameter			question	mim2gene	OMIM:616852
58	ACTA1	HP:0000006	Autosomal dominant inheritance			question	mim2gene	OMIM:616852
58	ACTA1	HP:0003828	Variable expressivity			question	mim2gene	OMIM:616852
58	ACTA1	HP:0009130	Hand muscle atrophy			question	mim2gene	OMIM:616852
58	ACTA1	HP:0001771	Achilles tendon contracture			question	mim2gene	OMIM:616852
58	ACTA1	HP:0002650	Scoliosis			question	mim2gene	OMIM:616852
58	ACTA1	HP:0009027	Foot dorsiflexor weakness			question	mim2gene	OMIM:616852
58	ACTA1	HP:0001284	Areflexia			question	mim2gene	OMIM:616852
58	ACTA1	HP:0031189	Wrist drop			question	mim2gene	OMIM:616852
59	ACTA2	HP:0007866	Retinal infarction			-	mim2gene	OMIM:613834
59	ACTA2	HP:0002092	Pulmonary arterial hypertension			-	mim2gene	OMIM:613834
59	ACTA2	HP:0004944	Dilatation of the cerebral artery			-	mim2gene	OMIM:613834
59	ACTA2	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:613834
59	ACTA2	HP:0030891	Periventricular white matter hyperdensities			-	mim2gene	OMIM:613834
59	ACTA2	HP:0000028	Cryptorchidism			-	mim2gene	OMIM:613834
59	ACTA2	HP:0002566	Intestinal malrotation			-	mim2gene	OMIM:613834
59	ACTA2	HP:0002789	Tachypnea			-	mim2gene	OMIM:613834
59	ACTA2	HP:0011499	Mydriasis			-	mim2gene	OMIM:613834
59	ACTA2	HP:0100770	Hyperperistalsis			-	mim2gene	OMIM:613834
59	ACTA2	HP:0000822	Hypertension			-	mim2gene	OMIM:613834
59	ACTA2	HP:0001643	Patent ductus arteriosus			-	mim2gene	OMIM:613834
59	ACTA2	HP:0012727	Thoracic aortic aneurysm			-	mim2gene	OMIM:613834
59	ACTA2	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:614042
59	ACTA2	HP:0004970	Ascending tubular aorta aneurysm			-	mim2gene	OMIM:614042
59	ACTA2	HP:0011834	Moyamoya phenomenon			-	mim2gene	OMIM:614042
59	ACTA2	HP:0100659	Abnormality of the cerebral vasculature		HP:0040282		orphadata	ORPHA:2573
59	ACTA2	HP:0001249	Intellectual disability		HP:0040282		orphadata	ORPHA:2573
59	ACTA2	HP:0002119	Ventriculomegaly		HP:0040282		orphadata	ORPHA:2573
59	ACTA2	HP:0001250	Seizures		HP:0040282		orphadata	ORPHA:2573
59	ACTA2	HP:0001009	Telangiectasia		HP:0040281		orphadata	ORPHA:2573
59	ACTA2	HP:0004970	Ascending tubular aorta aneurysm			-	mim2gene	OMIM:611788
59	ACTA2	HP:0004933	Ascending aortic dissection			-	mim2gene	OMIM:611788
59	ACTA2	HP:0005181	Premature coronary artery atherosclerosis	26/127		-	mim2gene	OMIM:611788
59	ACTA2	HP:0011834	Moyamoya phenomenon			-	mim2gene	OMIM:611788
59	ACTA2	HP:0012727	Thoracic aortic aneurysm			-	mim2gene	OMIM:611788
59	ACTA2	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:611788
59	ACTA2	HP:0004942	Aortic aneurysm			-	mim2gene	OMIM:611788
59	ACTA2	HP:0002705	High, narrow palate		HP:0040283		orphadata	ORPHA:91387
59	ACTA2	HP:0011106	Hypovolemia		HP:0040283		orphadata	ORPHA:91387
59	ACTA2	HP:0002107	Pneumothorax		HP:0040283		orphadata	ORPHA:91387
59	ACTA2	HP:0000965	Cutis marmorata		HP:0040281		orphadata	ORPHA:91387
59	ACTA2	HP:0001677	Coronary artery atherosclerosis		HP:0040282		orphadata	ORPHA:91387
59	ACTA2	HP:0004944	Dilatation of the cerebral artery		HP:0040283		orphadata	ORPHA:91387
59	ACTA2	HP:0004950	Peripheral arterial stenosis		HP:0040283		orphadata	ORPHA:91387
59	ACTA2	HP:0005112	Abdominal aortic aneurysm		HP:0040283		orphadata	ORPHA:91387
59	ACTA2	HP:0002140	Ischemic stroke		HP:0040283		orphadata	ORPHA:91387
59	ACTA2	HP:0001643	Patent ductus arteriosus		HP:0040283		orphadata	ORPHA:91387
59	ACTA2	HP:0000278	Retrognathia		HP:0040283		orphadata	ORPHA:91387
59	ACTA2	HP:0200146	Mucoid extracellular matrix accumulation		HP:0040281		orphadata	ORPHA:91387
59	ACTA2	HP:0012163	Carotid artery dilatation		HP:0040283		orphadata	ORPHA:91387
59	ACTA2	HP:0000316	Hypertelorism		HP:0040283		orphadata	ORPHA:91387
59	ACTA2	HP:0004959	Descending thoracic aorta aneurysm		HP:0040283		orphadata	ORPHA:91387
59	ACTA2	HP:0000525	Abnormality iris morphology		HP:0040282		orphadata	ORPHA:91387
59	ACTA2	HP:0000822	Hypertension		HP:0040282		orphadata	ORPHA:91387
59	ACTA2	HP:0000098	Tall stature		HP:0040283		orphadata	ORPHA:91387
59	ACTA2	HP:0001166	Arachnodactyly		HP:0040283		orphadata	ORPHA:91387
59	ACTA2	HP:0001647	Bicuspid aortic valve		HP:0040283		orphadata	ORPHA:91387
59	ACTA2	HP:0002105	Hemoptysis		HP:0040283		orphadata	ORPHA:91387
59	ACTA2	HP:0002616	Aortic root aneurysm		HP:0040283		orphadata	ORPHA:91387
59	ACTA2	HP:0100749	Chest pain		HP:0040282		orphadata	ORPHA:91387
59	ACTA2	HP:0002650	Scoliosis		HP:0040283		orphadata	ORPHA:91387
59	ACTA2	HP:0012499	Descending aortic dissection		HP:0040282		orphadata	ORPHA:91387
59	ACTA2	HP:0012763	Paroxysmal dyspnea		HP:0040282		orphadata	ORPHA:91387
59	ACTA2	HP:0002138	Subarachnoid hemorrhage		HP:0040283		orphadata	ORPHA:91387
59	ACTA2	HP:0004933	Ascending aortic dissection		HP:0040282		orphadata	ORPHA:91387
59	ACTA2	HP:0001640	Cardiomegaly		HP:0040282		orphadata	ORPHA:91387
59	ACTA2	HP:0002875	Exertional dyspnea		HP:0040282		orphadata	ORPHA:91387
59	ACTA2	HP:0005162	Left ventricular dysfunction		HP:0040282		orphadata	ORPHA:91387
59	ACTA2	HP:0000978	Bruising susceptibility		HP:0040283		orphadata	ORPHA:91387
59	ACTA2	HP:0002326	Transient ischemic attack		HP:0040283		orphadata	ORPHA:91387
59	ACTA2	HP:0100775	Dural ectasia		HP:0040283		orphadata	ORPHA:91387
59	ACTA2	HP:0000766	Abnormality of the sternum		HP:0040283		orphadata	ORPHA:91387
59	ACTA2	HP:0002686	Prenatal maternal abnormality		HP:0040283		orphadata	ORPHA:91387
59	ACTA2	HP:0001763	Pes planus		HP:0040283		orphadata	ORPHA:91387
59	ACTA2	HP:0001659	Aortic regurgitation		HP:0040282		orphadata	ORPHA:91387
59	ACTA2	HP:0000023	Inguinal hernia		HP:0040283		orphadata	ORPHA:91387
60	ACTB	HP:0000768	Pectus carinatum		HP:0040282		orphadata	ORPHA:64755
60	ACTB	HP:0001034	Hypermelanotic macule		HP:0040281		orphadata	ORPHA:64755
60	ACTB	HP:0002983	Micromelia		HP:0040281		orphadata	ORPHA:64755
60	ACTB	HP:0100578	Lipoatrophy		HP:0040281		orphadata	ORPHA:64755
60	ACTB	HP:0003298	Spina bifida occulta		HP:0040283		orphadata	ORPHA:64755
60	ACTB	HP:0003724	Shoulder girdle muscle atrophy		HP:0040281		orphadata	ORPHA:64755
60	ACTB	HP:0000767	Pectus excavatum		HP:0040282		orphadata	ORPHA:64755
60	ACTB	HP:0000045	Abnormality of the scrotum		HP:0040283		orphadata	ORPHA:64755
60	ACTB	HP:0100560	Upper limb asymmetry		HP:0040283		orphadata	ORPHA:64755
60	ACTB	HP:0002650	Scoliosis		HP:0040283		orphadata	ORPHA:64755
60	ACTB	HP:0002808	Kyphosis		HP:0040283		orphadata	ORPHA:64755
60	ACTB	HP:0010566	Hamartoma		HP:0040281		orphadata	ORPHA:64755
60	ACTB	HP:0000902	Rib fusion		HP:0040283		orphadata	ORPHA:64755
60	ACTB	HP:0100559	Lower limb asymmetry		HP:0040283		orphadata	ORPHA:64755
60	ACTB	HP:0010311	Aplasia/Hypoplasia of the breasts		HP:0040282		orphadata	ORPHA:64755
60	ACTB	HP:0002558	Supernumerary nipple		HP:0040281		orphadata	ORPHA:64755
60	ACTB	HP:0005815	Supernumerary ribs		HP:0040283		orphadata	ORPHA:64755
60	ACTB	HP:0002992	Abnormality of tibia morphology		HP:0040283		orphadata	ORPHA:64755
60	ACTB	HP:0000064	Hypoplastic labia minora		HP:0040283		orphadata	ORPHA:64755
60	ACTB	HP:0007325	Generalized dystonia			question	mim2gene	OMIM:607371
60	ACTB	HP:0002571	Achalasia			question	mim2gene	OMIM:607371
60	ACTB	HP:0011342	Mild global developmental delay			question	mim2gene	OMIM:607371
60	ACTB	HP:0000882	Hypoplastic scapulae			question	mim2gene	OMIM:607371
60	ACTB	HP:0000518	Cataract			question	mim2gene	OMIM:607371
60	ACTB	HP:0000175	Cleft palate			question	mim2gene	OMIM:607371
60	ACTB	HP:0002751	Kyphoscoliosis			question	mim2gene	OMIM:607371
60	ACTB	HP:0000006	Autosomal dominant inheritance			question	mim2gene	OMIM:607371
60	ACTB	HP:0000348	High forehead			question	mim2gene	OMIM:607371
60	ACTB	HP:0001518	Small for gestational age			question	mim2gene	OMIM:607371
60	ACTB	HP:0008796	Externally rotated hips			question	mim2gene	OMIM:607371
60	ACTB	HP:0000407	Sensorineural hearing impairment			question	mim2gene	OMIM:607371
60	ACTB	HP:0001256	Intellectual disability, mild			question	mim2gene	OMIM:607371
60	ACTB	HP:0000204	Cleft upper lip			question	mim2gene	OMIM:607371
60	ACTB	HP:0002721	Immunodeficiency		HP:0040281		orphadata	ORPHA:79107
60	ACTB	HP:0000407	Sensorineural hearing impairment		HP:0040281		orphadata	ORPHA:79107
60	ACTB	HP:0000618	Blindness		HP:0040282		orphadata	ORPHA:79107
60	ACTB	HP:0002650	Scoliosis		HP:0040281		orphadata	ORPHA:79107
60	ACTB	HP:0000158	Macroglossia		HP:0040281		orphadata	ORPHA:79107
60	ACTB	HP:0000202	Oral cleft		HP:0040281		orphadata	ORPHA:79107
60	ACTB	HP:0000348	High forehead		HP:0040281		orphadata	ORPHA:79107
60	ACTB	HP:0007325	Generalized dystonia		HP:0040281		orphadata	ORPHA:79107
60	ACTB	HP:0002015	Dysphagia		HP:0040281		orphadata	ORPHA:79107
60	ACTB	HP:0002808	Kyphosis		HP:0040281		orphadata	ORPHA:79107
60	ACTB	HP:0004322	Short stature		HP:0040281		orphadata	ORPHA:79107
60	ACTB	HP:0002983	Micromelia		HP:0040281		orphadata	ORPHA:79107
60	ACTB	HP:0100613	Death in early adulthood		HP:0040281		orphadata	ORPHA:79107
60	ACTB	HP:0000882	Hypoplastic scapulae		HP:0040281		orphadata	ORPHA:79107
60	ACTB	HP:0001268	Mental deterioration		HP:0040281		orphadata	ORPHA:79107
60	ACTB	HP:0008796	Externally rotated hips		HP:0040281		orphadata	ORPHA:79107
60	ACTB	HP:0001249	Intellectual disability		HP:0040281		orphadata	ORPHA:79107
60	ACTB	HP:0001263	Global developmental delay		HP:0040281		orphadata	ORPHA:79107
60	ACTB	HP:0000316	Hypertelorism		HP:0040281		orphadata	ORPHA:79107
60	ACTB	HP:0000518	Cataract		HP:0040282		orphadata	ORPHA:79107
60	ACTB	HP:0002571	Achalasia		HP:0040281		orphadata	ORPHA:79107
60	ACTB	HP:0000494	Downslanted palpebral fissures		HP:0040281		orphadata	ORPHA:2995
60	ACTB	HP:0002126	Polymicrogyria		HP:0040281		orphadata	ORPHA:2995
60	ACTB	HP:0001302	Pachygyria		HP:0040281		orphadata	ORPHA:2995
60	ACTB	HP:0000612	Iris coloboma		HP:0040281		orphadata	ORPHA:2995
60	ACTB	HP:0000445	Wide nose		HP:0040281		orphadata	ORPHA:2995
60	ACTB	HP:0000154	Wide mouth		HP:0040281		orphadata	ORPHA:2995
60	ACTB	HP:0002381	Aphasia		HP:0040281		orphadata	ORPHA:2995
60	ACTB	HP:0000482	Microcornea		HP:0040283		orphadata	ORPHA:2995
60	ACTB	HP:0000233	Thin vermilion border		HP:0040281		orphadata	ORPHA:2995
60	ACTB	HP:0000588	Optic nerve coloboma		HP:0040283		orphadata	ORPHA:2995
60	ACTB	HP:0000239	Large fontanelles		HP:0040282		orphadata	ORPHA:2995
60	ACTB	HP:0001328	Specific learning disability		HP:0040281		orphadata	ORPHA:2995
60	ACTB	HP:0001250	Seizures		HP:0040281		orphadata	ORPHA:2995
60	ACTB	HP:0001100	Heterochromia iridis		HP:0040282		orphadata	ORPHA:2995
60	ACTB	HP:0002650	Scoliosis		HP:0040283		orphadata	ORPHA:2995
60	ACTB	HP:0000470	Short neck		HP:0040282		orphadata	ORPHA:2995
60	ACTB	HP:0000506	Telecanthus		HP:0040281		orphadata	ORPHA:2995
60	ACTB	HP:0007227	Macrogyria		HP:0040281		orphadata	ORPHA:2995
60	ACTB	HP:0000243	Trigonocephaly		HP:0040282		orphadata	ORPHA:2995
60	ACTB	HP:0012905	Euryblepharon		HP:0040281		orphadata	ORPHA:2995
60	ACTB	HP:0000431	Wide nasal bridge		HP:0040281		orphadata	ORPHA:2995
60	ACTB	HP:0100540	Palpebral edema		HP:0040283		orphadata	ORPHA:2995
60	ACTB	HP:0000343	Long philtrum		HP:0040281		orphadata	ORPHA:2995
60	ACTB	HP:0000286	Epicanthus		HP:0040281		orphadata	ORPHA:2995
60	ACTB	HP:0001387	Joint stiffness		HP:0040282		orphadata	ORPHA:2995
60	ACTB	HP:0000278	Retrognathia		HP:0040281		orphadata	ORPHA:2995
60	ACTB	HP:0000280	Coarse facial features		HP:0040281		orphadata	ORPHA:2995
60	ACTB	HP:0001510	Growth delay		HP:0040281		orphadata	ORPHA:2995
60	ACTB	HP:0002553	Highly arched eyebrow		HP:0040281		orphadata	ORPHA:2995
60	ACTB	HP:0009942	Duplication of thumb phalanx		HP:0040283		orphadata	ORPHA:2995
60	ACTB	HP:0002300	Mutism		HP:0040281		orphadata	ORPHA:2995
60	ACTB	HP:0005487	Prominent metopic ridge		HP:0040281		orphadata	ORPHA:2995
60	ACTB	HP:0100308	Cerebral cortical hemiatrophy		HP:0040282		orphadata	ORPHA:2995
60	ACTB	HP:0002162	Low posterior hairline		HP:0040282		orphadata	ORPHA:2995
60	ACTB	HP:0000293	Full cheeks		HP:0040281		orphadata	ORPHA:2995
60	ACTB	HP:0000448	Prominent nose		HP:0040282		orphadata	ORPHA:2995
60	ACTB	HP:0000072	Hydroureter		HP:0040282		orphadata	ORPHA:2995
60	ACTB	HP:0001263	Global developmental delay		HP:0040281		orphadata	ORPHA:2995
60	ACTB	HP:0000465	Webbed neck		HP:0040283		orphadata	ORPHA:2995
60	ACTB	HP:0000126	Hydronephrosis		HP:0040282		orphadata	ORPHA:2995
60	ACTB	HP:0002357	Dysphasia		HP:0040281		orphadata	ORPHA:2995
60	ACTB	HP:0000437	Depressed nasal tip		HP:0040281		orphadata	ORPHA:2995
60	ACTB	HP:0001508	Failure to thrive		HP:0040281		orphadata	ORPHA:2995
60	ACTB	HP:0002326	Transient ischemic attack		HP:0040283		orphadata	ORPHA:2995
60	ACTB	HP:0000270	Delayed cranial suture closure		HP:0040282		orphadata	ORPHA:2995
60	ACTB	HP:0000347	Micrognathia		HP:0040281		orphadata	ORPHA:2995
60	ACTB	HP:0002652	Skeletal dysplasia		HP:0040281		orphadata	ORPHA:2995
60	ACTB	HP:0000637	Long palpebral fissure		HP:0040281		orphadata	ORPHA:2995
60	ACTB	HP:0000508	Ptosis		HP:0040281		orphadata	ORPHA:2995
60	ACTB	HP:0003189	Long nose		HP:0040282		orphadata	ORPHA:2995
60	ACTB	HP:0000252	Microcephaly		HP:0040282		orphadata	ORPHA:2995
60	ACTB	HP:0002000	Short columella		HP:0040281		orphadata	ORPHA:2995
60	ACTB	HP:0000307	Pointed chin		HP:0040281		orphadata	ORPHA:2995
60	ACTB	HP:0012157	Subcortical cerebral atrophy		HP:0040282		orphadata	ORPHA:2995
60	ACTB	HP:0001249	Intellectual disability		HP:0040281		orphadata	ORPHA:2995
60	ACTB	HP:0040188	Osteochondrosis		HP:0040281		orphadata	ORPHA:2995
60	ACTB	HP:0010529	Echolalia		HP:0040281		orphadata	ORPHA:2995
60	ACTB	HP:0030502	Retinoschisis		HP:0040282		orphadata	ORPHA:2995
60	ACTB	HP:0000316	Hypertelorism		HP:0040281		orphadata	ORPHA:2995
60	ACTB	HP:0011968	Feeding difficulties		HP:0040281		orphadata	ORPHA:2995
60	ACTB	HP:0010066	Duplication of phalanx of hallux		HP:0040283	-	mim2gene	OMIM:243310
60	ACTB	HP:0001249	Intellectual disability			-	mim2gene	OMIM:243310
60	ACTB	HP:0000219	Thin upper lip vermilion			-	mim2gene	OMIM:243310
60	ACTB	HP:0004322	Short stature			-	mim2gene	OMIM:243310
60	ACTB	HP:0001508	Failure to thrive			-	mim2gene	OMIM:243310
60	ACTB	HP:0000396	Overfolded helix			-	mim2gene	OMIM:243310
60	ACTB	HP:0000470	Short neck			-	mim2gene	OMIM:243310
60	ACTB	HP:0000431	Wide nasal bridge			-	mim2gene	OMIM:243310
60	ACTB	HP:0000343	Long philtrum			-	mim2gene	OMIM:243310
60	ACTB	HP:0000463	Anteverted nares			-	mim2gene	OMIM:243310
60	ACTB	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:243310
60	ACTB	HP:0001647	Bicuspid aortic valve			-	mim2gene	OMIM:243310
60	ACTB	HP:0000612	Iris coloboma			-	mim2gene	OMIM:243310
60	ACTB	HP:0000219	Thin upper lip vermilion			-	mim2gene	OMIM:243310
60	ACTB	HP:0002553	Highly arched eyebrow		HP:0040283	-	mim2gene	OMIM:243310
60	ACTB	HP:0000028	Cryptorchidism			-	mim2gene	OMIM:243310
60	ACTB	HP:0001290	Generalized hypotonia			-	mim2gene	OMIM:243310
60	ACTB	HP:0003196	Short nose			-	mim2gene	OMIM:243310
60	ACTB	HP:0000567	Chorioretinal coloboma			-	mim2gene	OMIM:243310
60	ACTB	HP:0008897	Postnatal growth retardation			-	mim2gene	OMIM:243310
60	ACTB	HP:0000202	Oral cleft		HP:0040283	-	mim2gene	OMIM:243310
60	ACTB	HP:0000286	Epicanthus			-	mim2gene	OMIM:243310
60	ACTB	HP:0000204	Cleft upper lip		HP:0040283	-	mim2gene	OMIM:243310
60	ACTB	HP:0000307	Pointed chin			-	mim2gene	OMIM:243310
60	ACTB	HP:0001252	Muscular hypotonia			-	mim2gene	OMIM:243310
60	ACTB	HP:0001939	Abnormality of metabolism/homeostasis			-	mim2gene	OMIM:243310
60	ACTB	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:243310
60	ACTB	HP:0002162	Low posterior hairline			-	mim2gene	OMIM:243310
60	ACTB	HP:0000243	Trigonocephaly			-	mim2gene	OMIM:243310
60	ACTB	HP:0011800	Midface retrusion			-	mim2gene	OMIM:243310
60	ACTB	HP:0002119	Ventriculomegaly		HP:0040283	-	mim2gene	OMIM:243310
60	ACTB	HP:0000054	Micropenis			-	mim2gene	OMIM:243310
60	ACTB	HP:0000154	Wide mouth			-	mim2gene	OMIM:243310
60	ACTB	HP:0000568	Microphthalmia		HP:0040283	-	mim2gene	OMIM:243310
60	ACTB	HP:0001250	Seizures			-	mim2gene	OMIM:243310
60	ACTB	HP:0000637	Long palpebral fissure			-	mim2gene	OMIM:243310
60	ACTB	HP:0000369	Low-set ears			-	mim2gene	OMIM:243310
60	ACTB	HP:0000407	Sensorineural hearing impairment			-	mim2gene	OMIM:243310
60	ACTB	HP:0001302	Pachygyria			-	mim2gene	OMIM:243310
60	ACTB	HP:0001263	Global developmental delay			-	mim2gene	OMIM:243310
60	ACTB	HP:0001650	Aortic valve stenosis			-	mim2gene	OMIM:243310
60	ACTB	HP:0000508	Ptosis			-	mim2gene	OMIM:243310
60	ACTB	HP:0000252	Microcephaly			-	mim2gene	OMIM:243310
60	ACTB	HP:0001643	Patent ductus arteriosus			-	mim2gene	OMIM:243310
60	ACTB	HP:0000278	Retrognathia		HP:0040283	-	mim2gene	OMIM:243310
60	ACTB	HP:0000316	Hypertelorism			-	mim2gene	OMIM:243310
60	ACTB	HP:0001274	Agenesis of corpus callosum			-	mim2gene	OMIM:243310
57410	SCYL1	HP:0001256	Intellectual disability, mild		HP:0040283	-	mim2gene	OMIM:616719
57410	SCYL1	HP:0001272	Cerebellar atrophy			-	mim2gene	OMIM:616719
57410	SCYL1	HP:0001337	Tremor			-	mim2gene	OMIM:616719
57410	SCYL1	HP:0002936	Distal sensory impairment			-	mim2gene	OMIM:616719
57410	SCYL1	HP:0001270	Motor delay			-	mim2gene	OMIM:616719
57410	SCYL1	HP:0001265	Hyporeflexia			-	mim2gene	OMIM:616719
57410	SCYL1	HP:0001347	Hyperreflexia		HP:0040283	-	mim2gene	OMIM:616719
57410	SCYL1	HP:0001762	Talipes equinovarus		HP:0040283	-	mim2gene	OMIM:616719
57410	SCYL1	HP:0001399	Hepatic failure			-	mim2gene	OMIM:616719
57410	SCYL1	HP:0002359	Frequent falls			-	mim2gene	OMIM:616719
57410	SCYL1	HP:0001257	Spasticity		HP:0040283	-	mim2gene	OMIM:616719
57410	SCYL1	HP:0001395	Hepatic fibrosis			-	mim2gene	OMIM:616719
57410	SCYL1	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:616719
57410	SCYL1	HP:0002240	Hepatomegaly			-	mim2gene	OMIM:616719
57410	SCYL1	HP:0002066	Gait ataxia			-	mim2gene	OMIM:616719
57410	SCYL1	HP:0001744	Splenomegaly			-	mim2gene	OMIM:616719
57410	SCYL1	HP:0007141	Sensorimotor neuropathy			-	mim2gene	OMIM:616719
57410	SCYL1	HP:0025268	Stuttering		HP:0040282		orphadata	ORPHA:466794
57410	SCYL1	HP:0001762	Talipes equinovarus		HP:0040284		orphadata	ORPHA:466794
57410	SCYL1	HP:0002080	Intention tremor		HP:0040282		orphadata	ORPHA:466794
57410	SCYL1	HP:0001945	Fever		HP:0040282		orphadata	ORPHA:466794
57410	SCYL1	HP:0001257	Spasticity		HP:0040284		orphadata	ORPHA:466794
57410	SCYL1	HP:0002066	Gait ataxia		HP:0040282		orphadata	ORPHA:466794
57410	SCYL1	HP:0003474	Sensory impairment		HP:0040282		orphadata	ORPHA:466794
57410	SCYL1	HP:0001265	Hyporeflexia		HP:0040282		orphadata	ORPHA:466794
57410	SCYL1	HP:0002073	Progressive cerebellar ataxia		HP:0040282		orphadata	ORPHA:466794
57410	SCYL1	HP:0001263	Global developmental delay		HP:0040282		orphadata	ORPHA:466794
57410	SCYL1	HP:0006855	Cerebellar vermis atrophy		HP:0040282		orphadata	ORPHA:466794
57410	SCYL1	HP:0006554	Acute hepatic failure		HP:0040282		orphadata	ORPHA:466794
57410	SCYL1	HP:0000641	Dysmetric saccades		HP:0040282		orphadata	ORPHA:466794
57410	SCYL1	HP:0001433	Hepatosplenomegaly		HP:0040282		orphadata	ORPHA:466794
57410	SCYL1	HP:0001152	Saccadic smooth pursuit		HP:0040282		orphadata	ORPHA:466794
57410	SCYL1	HP:0001256	Intellectual disability, mild		HP:0040282		orphadata	ORPHA:466794
57410	SCYL1	HP:0001395	Hepatic fibrosis		HP:0040282		orphadata	ORPHA:466794
57410	SCYL1	HP:0009055	Generalized limb muscle atrophy		HP:0040282		orphadata	ORPHA:466794
57410	SCYL1	HP:0000648	Optic atrophy		HP:0040284		orphadata	ORPHA:466794
57410	SCYL1	HP:0001347	Hyperreflexia		HP:0040284		orphadata	ORPHA:466794
57410	SCYL1	HP:0003401	Paresthesia		HP:0040282		orphadata	ORPHA:466794
57410	SCYL1	HP:0009053	Distal lower limb muscle weakness		HP:0040282		orphadata	ORPHA:466794
57410	SCYL1	HP:0002359	Frequent falls		HP:0040282		orphadata	ORPHA:466794
8260	NAA10	HP:0001631	Atrial septal defect			-	mim2gene	OMIM:300855
8260	NAA10	HP:0003717	Minimal subcutaneous fat			-	mim2gene	OMIM:300855
8260	NAA10	HP:0000535	Sparse and thin eyebrow			-	mim2gene	OMIM:300855
8260	NAA10	HP:0000219	Thin upper lip vermilion			-	mim2gene	OMIM:300855
8260	NAA10	HP:0000527	Long eyelashes			-	mim2gene	OMIM:300855
8260	NAA10	HP:0002002	Deep philtrum			-	mim2gene	OMIM:300855
8260	NAA10	HP:0000308	Microretrognathia			-	mim2gene	OMIM:300855
8260	NAA10	HP:0005288	Abnormality of the nares			-	mim2gene	OMIM:300855
8260	NAA10	HP:0004756	Ventricular tachycardia			-	mim2gene	OMIM:300855
8260	NAA10	HP:0002000	Short columella			-	mim2gene	OMIM:300855
8260	NAA10	HP:0000369	Low-set ears			-	mim2gene	OMIM:300855
8260	NAA10	HP:0003577	Congenital onset			-	mim2gene	OMIM:300855
8260	NAA10	HP:0010055	Broad hallux			-	mim2gene	OMIM:300855
8260	NAA10	HP:0002650	Scoliosis		HP:0040283	-	mim2gene	OMIM:300855
8260	NAA10	HP:0001664	Torsade de pointes			-	mim2gene	OMIM:300855
8260	NAA10	HP:0002059	Cerebral atrophy			-	mim2gene	OMIM:300855
8260	NAA10	HP:0000215	Thick upper lip vermilion			-	mim2gene	OMIM:300855
8260	NAA10	HP:0000431	Wide nasal bridge			-	mim2gene	OMIM:300855
8260	NAA10	HP:0002719	Recurrent infections			-	mim2gene	OMIM:300855
8260	NAA10	HP:0000400	Macrotia			-	mim2gene	OMIM:300855
8260	NAA10	HP:0000218	High palate			-	mim2gene	OMIM:300855
8260	NAA10	HP:0000252	Microcephaly			-	mim2gene	OMIM:300855
8260	NAA10	HP:0000733	Stereotypy			-	mim2gene	OMIM:300855
8260	NAA10	HP:0001629	Ventricular septal defect			-	mim2gene	OMIM:300855
8260	NAA10	HP:0004322	Short stature			-	mim2gene	OMIM:300855
8260	NAA10	HP:0008897	Postnatal growth retardation			-	mim2gene	OMIM:300855
8260	NAA10	HP:0000430	Underdeveloped nasal alae			-	mim2gene	OMIM:300855
8260	NAA10	HP:0005280	Depressed nasal bridge			-	mim2gene	OMIM:300855
8260	NAA10	HP:0003828	Variable expressivity			-	mim2gene	OMIM:300855
8260	NAA10	HP:0006682	Ventricular extrasystoles			-	mim2gene	OMIM:300855
8260	NAA10	HP:0000286	Epicanthus			-	mim2gene	OMIM:300855
8260	NAA10	HP:0000028	Cryptorchidism			-	mim2gene	OMIM:300855
8260	NAA10	HP:0000520	Proptosis			-	mim2gene	OMIM:300855
8260	NAA10	HP:0001276	Hypertonia			-	mim2gene	OMIM:300855
8260	NAA10	HP:0001263	Global developmental delay			-	mim2gene	OMIM:300855
8260	NAA10	HP:0010803	Everted upper lip vermilion			-	mim2gene	OMIM:300855
8260	NAA10	HP:0000494	Downslanted palpebral fissures			-	mim2gene	OMIM:300855
8260	NAA10	HP:0001419	X-linked recessive inheritance			-	mim2gene	OMIM:300855
8260	NAA10	HP:0004415	Pulmonary artery stenosis			-	mim2gene	OMIM:300855
8260	NAA10	HP:0000280	Coarse facial features			-	mim2gene	OMIM:300855
8260	NAA10	HP:0001582	Redundant skin			-	mim2gene	OMIM:300855
8260	NAA10	HP:0011220	Prominent forehead			-	mim2gene	OMIM:300855
8260	NAA10	HP:0000023	Inguinal hernia			-	mim2gene	OMIM:300855
8260	NAA10	HP:0004755	Supraventricular tachycardia			-	mim2gene	OMIM:300855
8260	NAA10	HP:0009762	Facial wrinkling			-	mim2gene	OMIM:300855
8260	NAA10	HP:0000164	Abnormality of the dentition			-	mim2gene	OMIM:300855
8260	NAA10	HP:0001423	X-linked dominant inheritance			-	mim2gene	OMIM:300855
8260	NAA10	HP:0002213	Fine hair		HP:0040283	-	mim2gene	OMIM:300855
8260	NAA10	HP:0030939	Palpebral thickening			-	mim2gene	OMIM:300855
8260	NAA10	HP:0000270	Delayed cranial suture closure			-	mim2gene	OMIM:300855
8260	NAA10	HP:0009931	Enlarged naris		HP:0040283		orphadata	ORPHA:276432
8260	NAA10	HP:0000308	Microretrognathia		HP:0040283		orphadata	ORPHA:276432
8260	NAA10	HP:0002457	Abnormal head movements		HP:0040283		orphadata	ORPHA:276432
8260	NAA10	HP:0000341	Narrow forehead		HP:0040283		orphadata	ORPHA:276432
8260	NAA10	HP:0002705	High, narrow palate		HP:0040283		orphadata	ORPHA:276432
8260	NAA10	HP:0100840	Aplasia/Hypoplasia of the eyebrow		HP:0040282		orphadata	ORPHA:276432
8260	NAA10	HP:0000520	Proptosis		HP:0040283		orphadata	ORPHA:276432
8260	NAA10	HP:0002059	Cerebral atrophy		HP:0040282		orphadata	ORPHA:276432
8260	NAA10	HP:0001262	Excessive daytime somnolence		HP:0040282		orphadata	ORPHA:276432
8260	NAA10	HP:0000400	Macrotia		HP:0040283		orphadata	ORPHA:276432
8260	NAA10	HP:0004415	Pulmonary artery stenosis		HP:0040283		orphadata	ORPHA:276432
8260	NAA10	HP:0000494	Downslanted palpebral fissures		HP:0040283		orphadata	ORPHA:276432
8260	NAA10	HP:0010803	Everted upper lip vermilion		HP:0040283		orphadata	ORPHA:276432
8260	NAA10	HP:0011675	Arrhythmia		HP:0040283		orphadata	ORPHA:276432
8260	NAA10	HP:0002194	Delayed gross motor development		HP:0040283		orphadata	ORPHA:276432
8260	NAA10	HP:0000028	Cryptorchidism		HP:0040283		orphadata	ORPHA:276432
8260	NAA10	HP:0000430	Underdeveloped nasal alae		HP:0040283		orphadata	ORPHA:276432
8260	NAA10	HP:0000023	Inguinal hernia		HP:0040283		orphadata	ORPHA:276432
8260	NAA10	HP:0030149	Cardiogenic shock		HP:0040283		orphadata	ORPHA:276432
8260	NAA10	HP:0000369	Low-set ears		HP:0040283		orphadata	ORPHA:276432
8260	NAA10	HP:0002650	Scoliosis		HP:0040282		orphadata	ORPHA:276432
8260	NAA10	HP:0008897	Postnatal growth retardation		HP:0040282		orphadata	ORPHA:276432
8260	NAA10	HP:0002000	Short columella		HP:0040283		orphadata	ORPHA:276432
8260	NAA10	HP:0001290	Generalized hypotonia		HP:0040282		orphadata	ORPHA:276432
8260	NAA10	HP:0025104	Capillary malformation		HP:0040283		orphadata	ORPHA:276432
8260	NAA10	HP:0000270	Delayed cranial suture closure		HP:0040282		orphadata	ORPHA:276432
8260	NAA10	HP:0000280	Coarse facial features		HP:0040283		orphadata	ORPHA:276432
8260	NAA10	HP:0001276	Hypertonia		HP:0040283		orphadata	ORPHA:276432
8260	NAA10	HP:0002007	Frontal bossing		HP:0040283		orphadata	ORPHA:276432
8260	NAA10	HP:0010055	Broad hallux		HP:0040282		orphadata	ORPHA:276432
8260	NAA10	HP:0002213	Fine hair		HP:0040282		orphadata	ORPHA:276432
8260	NAA10	HP:0000473	Torticollis		HP:0040282		orphadata	ORPHA:276432
8260	NAA10	HP:0002119	Ventriculomegaly		HP:0040283		orphadata	ORPHA:276432
8260	NAA10	HP:0000973	Cutis laxa		HP:0040283		orphadata	ORPHA:276432
8260	NAA10	HP:0002362	Shuffling gait		HP:0040283		orphadata	ORPHA:276432
8260	NAA10	HP:0001263	Global developmental delay		HP:0040282		orphadata	ORPHA:276432
8260	NAA10	HP:0000729	Autistic behavior		HP:0040283		orphadata	ORPHA:276432
8260	NAA10	HP:0001254	Lethargy		HP:0040283		orphadata	ORPHA:276432
8260	NAA10	HP:0001629	Ventricular septal defect		HP:0040283		orphadata	ORPHA:276432
8260	NAA10	HP:0009473	Joint contracture of the hand			question	mim2gene	OMIM:309800
8260	NAA10	HP:0000508	Ptosis			question	mim2gene	OMIM:309800
8260	NAA10	HP:0001270	Motor delay			question	mim2gene	OMIM:309800
8260	NAA10	HP:0001290	Generalized hypotonia			question	mim2gene	OMIM:309800
8260	NAA10	HP:0012385	Camptodactyly			question	mim2gene	OMIM:309800
8260	NAA10	HP:0000588	Optic nerve coloboma			question	mim2gene	OMIM:309800
8260	NAA10	HP:0002023	Anal atresia			question	mim2gene	OMIM:309800
8260	NAA10	HP:0001159	Syndactyly			question	mim2gene	OMIM:309800
8260	NAA10	HP:0000202	Oral cleft			question	mim2gene	OMIM:309800
8260	NAA10	HP:0000774	Narrow chest			question	mim2gene	OMIM:309800
8260	NAA10	HP:0000567	Chorioretinal coloboma			question	mim2gene	OMIM:309800
8260	NAA10	HP:0000365	Hearing impairment			question	mim2gene	OMIM:309800
8260	NAA10	HP:0000729	Autistic behavior		HP:0040283	question	mim2gene	OMIM:309800
8260	NAA10	HP:0001264	Spastic diplegia			question	mim2gene	OMIM:309800
8260	NAA10	HP:0000403	Recurrent otitis media			question	mim2gene	OMIM:309800
8260	NAA10	HP:0000089	Renal hypoplasia			question	mim2gene	OMIM:309800
8260	NAA10	HP:0000528	Anophthalmia			question	mim2gene	OMIM:309800
8260	NAA10	HP:0000767	Pectus excavatum			question	mim2gene	OMIM:309800
8260	NAA10	HP:0002021	Pyloric stenosis			question	mim2gene	OMIM:309800
8260	NAA10	HP:0002251	Aganglionic megacolon			question	mim2gene	OMIM:309800
8260	NAA10	HP:0000692	Misalignment of teeth			question	mim2gene	OMIM:309800
8260	NAA10	HP:0000072	Hydroureter			question	mim2gene	OMIM:309800
8260	NAA10	HP:0000678	Dental crowding			question	mim2gene	OMIM:309800
8260	NAA10	HP:0001647	Bicuspid aortic valve			question	mim2gene	OMIM:309800
8260	NAA10	HP:0000028	Cryptorchidism			question	mim2gene	OMIM:309800
8260	NAA10	HP:0000252	Microcephaly			question	mim2gene	OMIM:309800
8260	NAA10	HP:0002035	Rectal prolapse			question	mim2gene	OMIM:309800
8260	NAA10	HP:0000482	Microcornea			question	mim2gene	OMIM:309800
8260	NAA10	HP:0001417	X-linked inheritance			question	mim2gene	OMIM:309800
8260	NAA10	HP:0000568	Microphthalmia			question	mim2gene	OMIM:309800
8260	NAA10	HP:0000204	Cleft upper lip			question	mim2gene	OMIM:309800
8260	NAA10	HP:0000618	Blindness			question	mim2gene	OMIM:309800
8260	NAA10	HP:0000742	Self-mutilation			question	mim2gene	OMIM:309800
8260	NAA10	HP:0030084	Clinodactyly			question	mim2gene	OMIM:309800
8260	NAA10	HP:0008678	Renal hypoplasia/aplasia			question	mim2gene	OMIM:309800
8260	NAA10	HP:0002751	Kyphoscoliosis			question	mim2gene	OMIM:309800
8260	NAA10	HP:0020006	Ciliary body coloboma			question	mim2gene	OMIM:309800
8260	NAA10	HP:0000690	Agenesis of maxillary lateral incisor			question	mim2gene	OMIM:309800
8260	NAA10	HP:0000047	Hypospadias			question	mim2gene	OMIM:309800
8260	NAA10	HP:0001249	Intellectual disability			question	mim2gene	OMIM:309800
8260	NAA10	HP:0002705	High, narrow palate			question	mim2gene	OMIM:309800
8260	NAA10	HP:0009466	Radial deviation of finger			question	mim2gene	OMIM:309800
8260	NAA10	HP:0000718	Aggressive behavior			question	mim2gene	OMIM:309800
8260	NAA10	HP:0000369	Low-set ears			question	mim2gene	OMIM:309800
8260	NAA10	HP:0000465	Webbed neck			question	mim2gene	OMIM:309800
8260	NAA10	HP:0002089	Pulmonary hypoplasia		HP:0040283	question	mim2gene	OMIM:309800
8260	NAA10	HP:0001250	Seizures			question	mim2gene	OMIM:309800
8260	NAA10	HP:0000612	Iris coloboma			question	mim2gene	OMIM:309800
8260	NAA10	HP:0002938	Lumbar hyperlordosis			question	mim2gene	OMIM:309800
8260	NAA10	HP:0200021	Down-sloping shoulders			question	mim2gene	OMIM:309800
8260	NAA10	HP:0000396	Overfolded helix			question	mim2gene	OMIM:309800
8260	NAA10	HP:0000894	Short clavicles			question	mim2gene	OMIM:309800
8260	NAA10	HP:0000612	Iris coloboma			question	mim2gene	OMIM:309800
8260	NAA10	HP:0001018	Abnormal palmar dermatoglyphics			question	mim2gene	OMIM:309800
8260	NAA10	HP:0001510	Growth delay			question	mim2gene	OMIM:309800
8260	NAA10	HP:0001249	Intellectual disability		HP:0040282		orphadata	ORPHA:568
8260	NAA10	HP:0006482	Abnormality of dental morphology		HP:0040282		orphadata	ORPHA:568
8260	NAA10	HP:0000126	Hydronephrosis		HP:0040282		orphadata	ORPHA:568
8260	NAA10	HP:0000567	Chorioretinal coloboma		HP:0040282		orphadata	ORPHA:568
8260	NAA10	HP:0000252	Microcephaly		HP:0040282		orphadata	ORPHA:568
8260	NAA10	HP:0000889	Abnormality of the clavicle		HP:0040283		orphadata	ORPHA:568
8260	NAA10	HP:0004322	Short stature		HP:0040282		orphadata	ORPHA:568
8260	NAA10	HP:0000518	Cataract		HP:0040283		orphadata	ORPHA:568
8260	NAA10	HP:0030680	Abnormality of cardiovascular system morphology		HP:0040283		orphadata	ORPHA:568
8260	NAA10	HP:0000365	Hearing impairment		HP:0040283		orphadata	ORPHA:568
8260	NAA10	HP:0000612	Iris coloboma		HP:0040282		orphadata	ORPHA:568
8260	NAA10	HP:0009943	Complete duplication of thumb phalanx		HP:0040282		orphadata	ORPHA:568
8260	NAA10	HP:0000465	Webbed neck		HP:0040283		orphadata	ORPHA:568
8260	NAA10	HP:0000588	Optic nerve coloboma		HP:0040282		orphadata	ORPHA:568
8260	NAA10	HP:0000202	Oral cleft		HP:0040282		orphadata	ORPHA:568
8260	NAA10	HP:0000384	Preauricular skin tag		HP:0040283		orphadata	ORPHA:568
8260	NAA10	HP:0003043	Abnormality of the shoulder		HP:0040283		orphadata	ORPHA:568
8260	NAA10	HP:0000072	Hydroureter		HP:0040282		orphadata	ORPHA:568
8260	NAA10	HP:0000028	Cryptorchidism		HP:0040282		orphadata	ORPHA:568
8260	NAA10	HP:0000684	Delayed eruption of teeth		HP:0040283		orphadata	ORPHA:568
8260	NAA10	HP:0008572	External ear malformation		HP:0040282		orphadata	ORPHA:568
8260	NAA10	HP:0009755	Ankyloblepharon		HP:0040283		orphadata	ORPHA:568
8260	NAA10	HP:0000505	Visual impairment		HP:0040283		orphadata	ORPHA:568
8260	NAA10	HP:0000568	Microphthalmia		HP:0040281		orphadata	ORPHA:568
8260	NAA10	HP:0001250	Seizures		HP:0040283		orphadata	ORPHA:568
8260	NAA10	HP:0006101	Finger syndactyly		HP:0040282		orphadata	ORPHA:568
8260	NAA10	HP:0000368	Low-set, posteriorly rotated ears		HP:0040282		orphadata	ORPHA:568
8260	NAA10	HP:0002167	Neurological speech impairment		HP:0040283		orphadata	ORPHA:568
8260	NAA10	HP:0002650	Scoliosis		HP:0040283		orphadata	ORPHA:568
8260	NAA10	HP:0003307	Hyperlordosis		HP:0040283		orphadata	ORPHA:568
8260	NAA10	HP:0000501	Glaucoma		HP:0040282		orphadata	ORPHA:568
8260	NAA10	HP:0004209	Clinodactyly of the 5th finger		HP:0040282		orphadata	ORPHA:568
8260	NAA10	HP:0008678	Renal hypoplasia/aplasia		HP:0040282		orphadata	ORPHA:568
8260	NAA10	HP:0000639	Nystagmus		HP:0040283		orphadata	ORPHA:568
8260	NAA10	HP:0000047	Hypospadias		HP:0040282		orphadata	ORPHA:568
8260	NAA10	HP:0007370	Aplasia/Hypoplasia of the corpus callosum		HP:0040283		orphadata	ORPHA:568
8260	NAA10	HP:0002808	Kyphosis		HP:0040283		orphadata	ORPHA:568
8260	NAA10	HP:0100716	Self-injurious behavior		HP:0040283		orphadata	ORPHA:568
8260	NAA10	HP:0100818	Long thorax		HP:0040283		orphadata	ORPHA:568
8260	NAA10	HP:0000482	Microcornea		HP:0040282		orphadata	ORPHA:568
8260	NAA10	HP:0100490	Camptodactyly of finger		HP:0040282		orphadata	ORPHA:568
401474	SAMD12	HP:0001425	Heterogeneous			-	mim2gene	OMIM:601068
401474	SAMD12	HP:0003581	Adult onset			-	mim2gene	OMIM:601068
401474	SAMD12	HP:0001312	Giant somatosensory evoked potentials			-	mim2gene	OMIM:601068
401474	SAMD12	HP:0001249	Intellectual disability		HP:0040283	-	mim2gene	OMIM:601068
401474	SAMD12	HP:0001326	EEG with irregular generalized spike and wave complexes			-	mim2gene	OMIM:601068
401474	SAMD12	HP:0001337	Tremor			-	mim2gene	OMIM:601068
401474	SAMD12	HP:0003680	Nonprogressive			-	mim2gene	OMIM:601068
401474	SAMD12	HP:0002123	Generalized myoclonic seizures			-	mim2gene	OMIM:601068
401474	SAMD12	HP:0002069	Generalized tonic-clonic seizures			-	mim2gene	OMIM:601068
401474	SAMD12	HP:0001340	Enhancement of the C-reflex			-	mim2gene	OMIM:601068
401474	SAMD12	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:601068
401474	SAMD12	HP:0001351	Jerk-locked premyoclonus spikes			-	mim2gene	OMIM:601068
401474	SAMD12	HP:0010852	EEG with photoparoxysmal response			-	mim2gene	OMIM:601068
401474	SAMD12	HP:0007359	Focal-onset seizure		HP:0040282		orphadata	ORPHA:86814
401474	SAMD12	HP:0001249	Intellectual disability		HP:0040283		orphadata	ORPHA:86814
401474	SAMD12	HP:0002353	EEG abnormality		HP:0040281		orphadata	ORPHA:86814
401474	SAMD12	HP:0001336	Myoclonus		HP:0040281		orphadata	ORPHA:86814
401474	SAMD12	HP:0002315	Headache		HP:0040283		orphadata	ORPHA:86814
401474	SAMD12	HP:0002197	Generalized-onset seizure		HP:0040282		orphadata	ORPHA:86814
401474	SAMD12	HP:0100576	Amaurosis fugax		HP:0040283		orphadata	ORPHA:86814
401474	SAMD12	HP:0002378	Hand tremor		HP:0040281		orphadata	ORPHA:86814
70	ACTC1	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:613424
70	ACTC1	HP:0001712	Left ventricular hypertrophy		HP:0040283	-	mim2gene	OMIM:613424
70	ACTC1	HP:0030682	Left ventricular noncompaction		HP:0040283	-	mim2gene	OMIM:613424
70	ACTC1	HP:0001723	Restrictive cardiomyopathy		HP:0040283	-	mim2gene	OMIM:613424
70	ACTC1	HP:0004308	Ventricular arrhythmia		HP:0040283	-	mim2gene	OMIM:613424
70	ACTC1	HP:0001635	Congestive heart failure			-	mim2gene	OMIM:613424
70	ACTC1	HP:0001644	Dilated cardiomyopathy			-	mim2gene	OMIM:613424
70	ACTC1	HP:0001644	Dilated cardiomyopathy		HP:0040281		orphadata	ORPHA:154
70	ACTC1	HP:0003457	EMG abnormality		HP:0040283		orphadata	ORPHA:154
70	ACTC1	HP:0001874	Abnormality of neutrophils		HP:0040283		orphadata	ORPHA:154
70	ACTC1	HP:0003198	Myopathy		HP:0040283		orphadata	ORPHA:154
70	ACTC1	HP:0100578	Lipoatrophy		HP:0040283		orphadata	ORPHA:154
70	ACTC1	HP:0000407	Sensorineural hearing impairment		HP:0040283		orphadata	ORPHA:154
70	ACTC1	HP:0000982	Palmoplantar keratoderma		HP:0040283		orphadata	ORPHA:154
70	ACTC1	HP:0003236	Elevated serum creatine kinase		HP:0040283		orphadata	ORPHA:154
70	ACTC1	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:612098
70	ACTC1	HP:0001639	Hypertrophic cardiomyopathy			-	mim2gene	OMIM:612098
70	ACTC1	HP:0011675	Arrhythmia		HP:0040283	-	mim2gene	OMIM:612098
70	ACTC1	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:612794
70	ACTC1	HP:0001631	Atrial septal defect			-	mim2gene	OMIM:612794
71	ACTG1	HP:0011462	Young adult onset			-	mim2gene	OMIM:604717
71	ACTG1	HP:0000408	Progressive sensorineural hearing impairment			-	mim2gene	OMIM:604717
71	ACTG1	HP:0008619	Bilateral sensorineural hearing impairment			-	mim2gene	OMIM:604717
71	ACTG1	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:604717
71	ACTG1	HP:0000316	Hypertelorism	7/8		-	mim2gene	OMIM:614583
71	ACTG1	HP:0000343	Long philtrum			-	mim2gene	OMIM:614583
71	ACTG1	HP:0001302	Pachygyria			-	mim2gene	OMIM:614583
71	ACTG1	HP:0001339	Lissencephaly	7/7		-	mim2gene	OMIM:614583
71	ACTG1	HP:0001274	Agenesis of corpus callosum		HP:0040283	-	mim2gene	OMIM:614583
71	ACTG1	HP:0004322	Short stature	3/7		-	mim2gene	OMIM:614583
71	ACTG1	HP:0001249	Intellectual disability	5/5		-	mim2gene	OMIM:614583
71	ACTG1	HP:0000470	Short neck		HP:0040283	-	mim2gene	OMIM:614583
71	ACTG1	HP:0000365	Hearing impairment	5/6		-	mim2gene	OMIM:614583
71	ACTG1	HP:0000154	Wide mouth			-	mim2gene	OMIM:614583
71	ACTG1	HP:0000307	Pointed chin			-	mim2gene	OMIM:614583
71	ACTG1	HP:0000508	Ptosis	8/8		-	mim2gene	OMIM:614583
71	ACTG1	HP:0000278	Retrognathia		HP:0040283	-	mim2gene	OMIM:614583
71	ACTG1	HP:0000243	Trigonocephaly	7/7		-	mim2gene	OMIM:614583
71	ACTG1	HP:0002553	Highly arched eyebrow	7/7		-	mim2gene	OMIM:614583
71	ACTG1	HP:0030680	Abnormality of cardiovascular system morphology		HP:0040284	-	mim2gene	OMIM:614583
71	ACTG1	HP:0000377	Abnormality of the pinna			-	mim2gene	OMIM:614583
71	ACTG1	HP:0000589	Coloboma	5/7		-	mim2gene	OMIM:614583
71	ACTG1	HP:0000202	Oral cleft		HP:0040283	-	mim2gene	OMIM:614583
71	ACTG1	HP:0000219	Thin upper lip vermilion			-	mim2gene	OMIM:614583
71	ACTG1	HP:0005484	Postnatal microcephaly	4/7		-	mim2gene	OMIM:614583
71	ACTG1	HP:0000568	Microphthalmia		HP:0040283	-	mim2gene	OMIM:614583
71	ACTG1	HP:0001250	Seizures	7/8		-	mim2gene	OMIM:614583
71	ACTG1	HP:0000637	Long palpebral fissure			-	mim2gene	OMIM:614583
71	ACTG1	HP:0000465	Webbed neck		HP:0040283	-	mim2gene	OMIM:614583
71	ACTG1	HP:0000506	Telecanthus			-	mim2gene	OMIM:614583
71	ACTG1	HP:0002119	Ventriculomegaly		HP:0040283	-	mim2gene	OMIM:614583
71	ACTG1	HP:0000006	Autosomal dominant inheritance	5/7		-	mim2gene	OMIM:614583
71	ACTG1	HP:0000494	Downslanted palpebral fissures		HP:0040281		orphadata	ORPHA:2995
71	ACTG1	HP:0002126	Polymicrogyria		HP:0040281		orphadata	ORPHA:2995
71	ACTG1	HP:0001302	Pachygyria		HP:0040281		orphadata	ORPHA:2995
71	ACTG1	HP:0000612	Iris coloboma		HP:0040281		orphadata	ORPHA:2995
71	ACTG1	HP:0000445	Wide nose		HP:0040281		orphadata	ORPHA:2995
71	ACTG1	HP:0000154	Wide mouth		HP:0040281		orphadata	ORPHA:2995
71	ACTG1	HP:0002381	Aphasia		HP:0040281		orphadata	ORPHA:2995
71	ACTG1	HP:0000482	Microcornea		HP:0040283		orphadata	ORPHA:2995
71	ACTG1	HP:0000233	Thin vermilion border		HP:0040281		orphadata	ORPHA:2995
71	ACTG1	HP:0000588	Optic nerve coloboma		HP:0040283		orphadata	ORPHA:2995
71	ACTG1	HP:0000239	Large fontanelles		HP:0040282		orphadata	ORPHA:2995
71	ACTG1	HP:0001328	Specific learning disability		HP:0040281		orphadata	ORPHA:2995
71	ACTG1	HP:0001250	Seizures		HP:0040281		orphadata	ORPHA:2995
71	ACTG1	HP:0001100	Heterochromia iridis		HP:0040282		orphadata	ORPHA:2995
71	ACTG1	HP:0002650	Scoliosis		HP:0040283		orphadata	ORPHA:2995
71	ACTG1	HP:0000470	Short neck		HP:0040282		orphadata	ORPHA:2995
71	ACTG1	HP:0000506	Telecanthus		HP:0040281		orphadata	ORPHA:2995
71	ACTG1	HP:0007227	Macrogyria		HP:0040281		orphadata	ORPHA:2995
71	ACTG1	HP:0000243	Trigonocephaly		HP:0040282		orphadata	ORPHA:2995
71	ACTG1	HP:0012905	Euryblepharon		HP:0040281		orphadata	ORPHA:2995
71	ACTG1	HP:0000431	Wide nasal bridge		HP:0040281		orphadata	ORPHA:2995
71	ACTG1	HP:0100540	Palpebral edema		HP:0040283		orphadata	ORPHA:2995
71	ACTG1	HP:0000343	Long philtrum		HP:0040281		orphadata	ORPHA:2995
71	ACTG1	HP:0000286	Epicanthus		HP:0040281		orphadata	ORPHA:2995
71	ACTG1	HP:0001387	Joint stiffness		HP:0040282		orphadata	ORPHA:2995
71	ACTG1	HP:0000278	Retrognathia		HP:0040281		orphadata	ORPHA:2995
71	ACTG1	HP:0000280	Coarse facial features		HP:0040281		orphadata	ORPHA:2995
71	ACTG1	HP:0001510	Growth delay		HP:0040281		orphadata	ORPHA:2995
71	ACTG1	HP:0002553	Highly arched eyebrow		HP:0040281		orphadata	ORPHA:2995
71	ACTG1	HP:0009942	Duplication of thumb phalanx		HP:0040283		orphadata	ORPHA:2995
71	ACTG1	HP:0002300	Mutism		HP:0040281		orphadata	ORPHA:2995
71	ACTG1	HP:0005487	Prominent metopic ridge		HP:0040281		orphadata	ORPHA:2995
71	ACTG1	HP:0100308	Cerebral cortical hemiatrophy		HP:0040282		orphadata	ORPHA:2995
71	ACTG1	HP:0002162	Low posterior hairline		HP:0040282		orphadata	ORPHA:2995
71	ACTG1	HP:0000293	Full cheeks		HP:0040281		orphadata	ORPHA:2995
71	ACTG1	HP:0000448	Prominent nose		HP:0040282		orphadata	ORPHA:2995
71	ACTG1	HP:0000072	Hydroureter		HP:0040282		orphadata	ORPHA:2995
71	ACTG1	HP:0001263	Global developmental delay		HP:0040281		orphadata	ORPHA:2995
71	ACTG1	HP:0000465	Webbed neck		HP:0040283		orphadata	ORPHA:2995
71	ACTG1	HP:0000126	Hydronephrosis		HP:0040282		orphadata	ORPHA:2995
71	ACTG1	HP:0002357	Dysphasia		HP:0040281		orphadata	ORPHA:2995
71	ACTG1	HP:0000437	Depressed nasal tip		HP:0040281		orphadata	ORPHA:2995
71	ACTG1	HP:0001508	Failure to thrive		HP:0040281		orphadata	ORPHA:2995
71	ACTG1	HP:0002326	Transient ischemic attack		HP:0040283		orphadata	ORPHA:2995
71	ACTG1	HP:0000270	Delayed cranial suture closure		HP:0040282		orphadata	ORPHA:2995
71	ACTG1	HP:0000347	Micrognathia		HP:0040281		orphadata	ORPHA:2995
71	ACTG1	HP:0002652	Skeletal dysplasia		HP:0040281		orphadata	ORPHA:2995
71	ACTG1	HP:0000637	Long palpebral fissure		HP:0040281		orphadata	ORPHA:2995
71	ACTG1	HP:0000508	Ptosis		HP:0040281		orphadata	ORPHA:2995
71	ACTG1	HP:0003189	Long nose		HP:0040282		orphadata	ORPHA:2995
71	ACTG1	HP:0000252	Microcephaly		HP:0040282		orphadata	ORPHA:2995
71	ACTG1	HP:0002000	Short columella		HP:0040281		orphadata	ORPHA:2995
71	ACTG1	HP:0000307	Pointed chin		HP:0040281		orphadata	ORPHA:2995
71	ACTG1	HP:0012157	Subcortical cerebral atrophy		HP:0040282		orphadata	ORPHA:2995
71	ACTG1	HP:0001249	Intellectual disability		HP:0040281		orphadata	ORPHA:2995
71	ACTG1	HP:0040188	Osteochondrosis		HP:0040281		orphadata	ORPHA:2995
71	ACTG1	HP:0010529	Echolalia		HP:0040281		orphadata	ORPHA:2995
71	ACTG1	HP:0030502	Retinoschisis		HP:0040282		orphadata	ORPHA:2995
71	ACTG1	HP:0000316	Hypertelorism		HP:0040281		orphadata	ORPHA:2995
71	ACTG1	HP:0011968	Feeding difficulties		HP:0040281		orphadata	ORPHA:2995
72	ACTG2	HP:0004395	Malnutrition			-	mim2gene	OMIM:155310
72	ACTG2	HP:0001561	Polyhydramnios			-	mim2gene	OMIM:155310
72	ACTG2	HP:0002015	Dysphagia			-	mim2gene	OMIM:155310
72	ACTG2	HP:0003270	Abdominal distention			-	mim2gene	OMIM:155310
72	ACTG2	HP:0002251	Aganglionic megacolon			-	mim2gene	OMIM:155310
72	ACTG2	HP:0000076	Vesicoureteral reflux			-	mim2gene	OMIM:155310
72	ACTG2	HP:0000021	Megacystis			-	mim2gene	OMIM:155310
72	ACTG2	HP:0004389	Intestinal pseudo-obstruction			-	mim2gene	OMIM:155310
72	ACTG2	HP:0000126	Hydronephrosis			-	mim2gene	OMIM:155310
72	ACTG2	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:155310
72	ACTG2	HP:0001733	Pancreatitis		HP:0040283	-	mim2gene	OMIM:155310
72	ACTG2	HP:0002013	Vomiting			-	mim2gene	OMIM:155310
72	ACTG2	HP:0004388	Microcolon			-	mim2gene	OMIM:155310
72	ACTG2	HP:0002019	Constipation			-	mim2gene	OMIM:155310
72	ACTG2	HP:0000016	Urinary retention			-	mim2gene	OMIM:155310
72	ACTG2	HP:0002014	Diarrhea			-	mim2gene	OMIM:155310
72	ACTG2	HP:0002027	Abdominal pain			-	mim2gene	OMIM:155310
72	ACTG2	HP:0000368	Low-set, posteriorly rotated ears		HP:0040283		orphadata	ORPHA:2604
72	ACTG2	HP:0000021	Megacystis		HP:0040281		orphadata	ORPHA:2604
72	ACTG2	HP:0000076	Vesicoureteral reflux		HP:0040281		orphadata	ORPHA:2604
72	ACTG2	HP:0000175	Cleft palate		HP:0040283		orphadata	ORPHA:2604
72	ACTG2	HP:0000843	Hyperparathyroidism		HP:0040283		orphadata	ORPHA:2604
72	ACTG2	HP:0001387	Joint stiffness		HP:0040283		orphadata	ORPHA:2604
72	ACTG2	HP:0001798	Anonychia		HP:0040283		orphadata	ORPHA:2604
72	ACTG2	HP:0001166	Arachnodactyly		HP:0040283		orphadata	ORPHA:2604
72	ACTG2	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature		HP:0040282		orphadata	ORPHA:2604
72	ACTG2	HP:0000311	Round face		HP:0040283		orphadata	ORPHA:2604
72	ACTG2	HP:0002251	Aganglionic megacolon		HP:0040283		orphadata	ORPHA:2604
72	ACTG2	HP:0000347	Micrognathia		HP:0040283		orphadata	ORPHA:2604
72	ACTG2	HP:0030680	Abnormality of cardiovascular system morphology		HP:0040283		orphadata	ORPHA:2604
72	ACTG2	HP:0001537	Umbilical hernia		HP:0040283		orphadata	ORPHA:2604
72	ACTG2	HP:0003363	Abdominal situs inversus		HP:0040283		orphadata	ORPHA:2604
72	ACTG2	HP:0000774	Narrow chest		HP:0040283		orphadata	ORPHA:2604
72	ACTG2	HP:0000337	Broad forehead		HP:0040283		orphadata	ORPHA:2604
72	ACTG2	HP:0003270	Abdominal distention		HP:0040282		orphadata	ORPHA:2604
72	ACTG2	HP:0000426	Prominent nasal bridge		HP:0040283		orphadata	ORPHA:2604
72	ACTG2	HP:0000463	Anteverted nares		HP:0040283		orphadata	ORPHA:2604
72	ACTG2	HP:0100490	Camptodactyly of finger		HP:0040283		orphadata	ORPHA:2604
72	ACTG2	HP:0000072	Hydroureter		HP:0040281		orphadata	ORPHA:2604
72	ACTG2	HP:0000252	Microcephaly		HP:0040283		orphadata	ORPHA:2604
72	ACTG2	HP:0002566	Intestinal malrotation		HP:0040282		orphadata	ORPHA:2241
72	ACTG2	HP:0001537	Umbilical hernia		HP:0040283		orphadata	ORPHA:2241
72	ACTG2	HP:0100771	Hypoperistalsis		HP:0040281		orphadata	ORPHA:2241
72	ACTG2	HP:0004388	Microcolon		HP:0040281		orphadata	ORPHA:2241
72	ACTG2	HP:0000021	Megacystis		HP:0040281		orphadata	ORPHA:2241
72	ACTG2	HP:0001561	Polyhydramnios		HP:0040282		orphadata	ORPHA:2241
72	ACTG2	HP:0001522	Death in infancy		HP:0040283		orphadata	ORPHA:2241
72	ACTG2	HP:0100544	Neoplasm of the heart		HP:0040283		orphadata	ORPHA:2241
72	ACTG2	HP:0000072	Hydroureter		HP:0040282		orphadata	ORPHA:2241
72	ACTG2	HP:0003270	Abdominal distention		HP:0040281		orphadata	ORPHA:2241
72	ACTG2	HP:0001539	Omphalocele		HP:0040283		orphadata	ORPHA:2241
72	ACTG2	HP:0000028	Cryptorchidism		HP:0040283		orphadata	ORPHA:2241
72	ACTG2	HP:0100806	Sepsis		HP:0040283		orphadata	ORPHA:2241
72	ACTG2	HP:0000003	Multicystic kidney dysplasia		HP:0040282		orphadata	ORPHA:2241
72	ACTG2	HP:0002017	Nausea and vomiting		HP:0040281		orphadata	ORPHA:2241
8270	LAGE3	HP:0001511	Intrauterine growth retardation			-	mim2gene	OMIM:301006
8270	LAGE3	HP:0001272	Cerebellar atrophy			-	mim2gene	OMIM:301006
8270	LAGE3	HP:0000750	Delayed speech and language development			-	mim2gene	OMIM:301006
8270	LAGE3	HP:0001257	Spasticity			-	mim2gene	OMIM:301006
8270	LAGE3	HP:0000093	Proteinuria			-	mim2gene	OMIM:301006
8270	LAGE3	HP:0001249	Intellectual disability			-	mim2gene	OMIM:301006
8270	LAGE3	HP:0011968	Feeding difficulties			-	mim2gene	OMIM:301006
8270	LAGE3	HP:0012579	Minimal change glomerulonephritis			-	mim2gene	OMIM:301006
8270	LAGE3	HP:0003774	Stage 5 chronic kidney disease		HP:0040284	-	mim2gene	OMIM:301006
8270	LAGE3	HP:0000218	High palate			-	mim2gene	OMIM:301006
8270	LAGE3	HP:0001263	Global developmental delay			-	mim2gene	OMIM:301006
8270	LAGE3	HP:0004322	Short stature			-	mim2gene	OMIM:301006
8270	LAGE3	HP:0001419	X-linked recessive inheritance			-	mim2gene	OMIM:301006
8270	LAGE3	HP:0000100	Nephrotic syndrome			-	mim2gene	OMIM:301006
8270	LAGE3	HP:0002126	Polymicrogyria			-	mim2gene	OMIM:301006
8270	LAGE3	HP:0000347	Micrognathia			-	mim2gene	OMIM:301006
8270	LAGE3	HP:0000639	Nystagmus			-	mim2gene	OMIM:301006
8270	LAGE3	HP:0002059	Cerebral atrophy			-	mim2gene	OMIM:301006
8270	LAGE3	HP:0001166	Arachnodactyly			-	mim2gene	OMIM:301006
8270	LAGE3	HP:0001250	Seizures			-	mim2gene	OMIM:301006
8270	LAGE3	HP:0000341	Narrow forehead			-	mim2gene	OMIM:301006
8270	LAGE3	HP:0000565	Esotropia			-	mim2gene	OMIM:301006
8270	LAGE3	HP:0001310	Dysmetria			-	mim2gene	OMIM:301006
8270	LAGE3	HP:0002650	Scoliosis			-	mim2gene	OMIM:301006
8270	LAGE3	HP:0001290	Generalized hypotonia			-	mim2gene	OMIM:301006
8270	LAGE3	HP:0000096	Glomerulosclerosis			-	mim2gene	OMIM:301006
8270	LAGE3	HP:0000252	Microcephaly			-	mim2gene	OMIM:301006
8270	LAGE3	HP:0000400	Macrotia		HP:0040282		orphadata	ORPHA:2065
8270	LAGE3	HP:0001181	Adducted thumb		HP:0040283		orphadata	ORPHA:2065
8270	LAGE3	HP:0000093	Proteinuria		HP:0040281		orphadata	ORPHA:2065
8270	LAGE3	HP:0100543	Cognitive impairment		HP:0040281		orphadata	ORPHA:2065
8270	LAGE3	HP:0000252	Microcephaly		HP:0040281		orphadata	ORPHA:2065
8270	LAGE3	HP:0010978	Abnormality of immune system physiology		HP:0040283		orphadata	ORPHA:2065
8270	LAGE3	HP:0001511	Intrauterine growth retardation		HP:0040282		orphadata	ORPHA:2065
8270	LAGE3	HP:0000164	Abnormality of the dentition		HP:0040283		orphadata	ORPHA:2065
8270	LAGE3	HP:0001276	Hypertonia		HP:0040283		orphadata	ORPHA:2065
8270	LAGE3	HP:0002353	EEG abnormality		HP:0040282		orphadata	ORPHA:2065
8270	LAGE3	HP:0001302	Pachygyria		HP:0040282		orphadata	ORPHA:2065
8270	LAGE3	HP:0002410	Aqueductal stenosis		HP:0040283		orphadata	ORPHA:2065
8270	LAGE3	HP:0000316	Hypertelorism		HP:0040283		orphadata	ORPHA:2065
8270	LAGE3	HP:0004322	Short stature		HP:0040282		orphadata	ORPHA:2065
8270	LAGE3	HP:0002036	Hiatus hernia		HP:0040282		orphadata	ORPHA:2065
8270	LAGE3	HP:0000347	Micrognathia		HP:0040283		orphadata	ORPHA:2065
8270	LAGE3	HP:0100490	Camptodactyly of finger		HP:0040283		orphadata	ORPHA:2065
8270	LAGE3	HP:0000112	Nephropathy		HP:0040281		orphadata	ORPHA:2065
8270	LAGE3	HP:0000100	Nephrotic syndrome		HP:0040281		orphadata	ORPHA:2065
8270	LAGE3	HP:0001263	Global developmental delay		HP:0040281		orphadata	ORPHA:2065
8270	LAGE3	HP:0004374	Hemiplegia/hemiparesis		HP:0040283		orphadata	ORPHA:2065
8270	LAGE3	HP:0001250	Seizures		HP:0040282		orphadata	ORPHA:2065
8270	LAGE3	HP:0100720	Hypoplasia of the ear cartilage		HP:0040281		orphadata	ORPHA:2065
8270	LAGE3	HP:0001252	Muscular hypotonia		HP:0040283		orphadata	ORPHA:2065
8270	LAGE3	HP:0001622	Premature birth		HP:0040282		orphadata	ORPHA:2065
8270	LAGE3	HP:0000601	Hypotelorism		HP:0040283		orphadata	ORPHA:2065
8270	LAGE3	HP:0005108	Abnormality of the intervertebral disk		HP:0040283		orphadata	ORPHA:2065
122961	ISCA2	HP:0031358	Vegetative state			-	mim2gene	OMIM:616370
122961	ISCA2	HP:0000505	Visual impairment			-	mim2gene	OMIM:616370
122961	ISCA2	HP:0000648	Optic atrophy			-	mim2gene	OMIM:616370
122961	ISCA2	HP:0001257	Spasticity			-	mim2gene	OMIM:616370
122961	ISCA2	HP:0001347	Hyperreflexia			-	mim2gene	OMIM:616370
122961	ISCA2	HP:0000639	Nystagmus			-	mim2gene	OMIM:616370
122961	ISCA2	HP:0001290	Generalized hypotonia			-	mim2gene	OMIM:616370
122961	ISCA2	HP:0002518	Abnormality of the periventricular white matter			-	mim2gene	OMIM:616370
122961	ISCA2	HP:0002415	Leukodystrophy			-	mim2gene	OMIM:616370
122961	ISCA2	HP:0003676	Progressive			-	mim2gene	OMIM:616370
122961	ISCA2	HP:0001344	Absent speech			-	mim2gene	OMIM:616370
122961	ISCA2	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:616370
81	ACTN4	HP:0003077	Hyperlipidemia			-	mim2gene	OMIM:603278
81	ACTN4	HP:0003774	Stage 5 chronic kidney disease		HP:0040283	-	mim2gene	OMIM:603278
81	ACTN4	HP:0000097	Focal segmental glomerulosclerosis		HP:0040280	-	mim2gene	OMIM:603278
81	ACTN4	HP:0000969	Edema			-	mim2gene	OMIM:603278
81	ACTN4	HP:0003829	Incomplete penetrance			-	mim2gene	OMIM:603278
81	ACTN4	HP:0003073	Hypoalbuminemia			-	mim2gene	OMIM:603278
81	ACTN4	HP:0000822	Hypertension			-	mim2gene	OMIM:603278
81	ACTN4	HP:0003677	Slow progression			-	mim2gene	OMIM:603278
81	ACTN4	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:603278
81	ACTN4	HP:0003828	Variable expressivity			-	mim2gene	OMIM:603278
81	ACTN4	HP:0000093	Proteinuria			-	mim2gene	OMIM:603278
81	ACTN4	HP:0001903	Anemia			-	mim2gene	OMIM:603278
221264	AK9	HP:0410011	Abnormality of masticatory muscle		HP:0040282		orphadata	ORPHA:98913
221264	AK9	HP:0003202	Skeletal muscle atrophy		HP:0040282		orphadata	ORPHA:98913
221264	AK9	HP:0003443	Decreased size of nerve terminals		HP:0040282		orphadata	ORPHA:98913
221264	AK9	HP:0009005	Weakness of the intrinsic hand muscles		HP:0040282		orphadata	ORPHA:98913
221264	AK9	HP:0003402	Decreased miniature endplate potentials		HP:0040282		orphadata	ORPHA:98913
221264	AK9	HP:0005659	Thoracic kyphoscoliosis		HP:0040283		orphadata	ORPHA:98913
221264	AK9	HP:0012764	Orthopnea		HP:0040283		orphadata	ORPHA:98913
221264	AK9	HP:0003388	Easy fatigability		HP:0040282		orphadata	ORPHA:98913
221264	AK9	HP:0009077	Weakness of long finger extensor muscles		HP:0040283		orphadata	ORPHA:98913
221264	AK9	HP:0002091	Restrictive ventilatory defect		HP:0040283		orphadata	ORPHA:98913
221264	AK9	HP:0003458	EMG: myopathic abnormalities		HP:0040282		orphadata	ORPHA:98913
221264	AK9	HP:0003803	Type 1 muscle fiber predominance		HP:0040282		orphadata	ORPHA:98913
221264	AK9	HP:0000961	Cyanosis		HP:0040283		orphadata	ORPHA:98913
221264	AK9	HP:0031374	Ankle weakness		HP:0040283		orphadata	ORPHA:98913
221264	AK9	HP:0000651	Diplopia		HP:0040283		orphadata	ORPHA:98913
221264	AK9	HP:0001315	Reduced tendon reflexes		HP:0040282		orphadata	ORPHA:98913
221264	AK9	HP:0003722	Neck flexor weakness		HP:0040282		orphadata	ORPHA:98913
221264	AK9	HP:0010628	Facial palsy		HP:0040282		orphadata	ORPHA:98913
221264	AK9	HP:0002329	Drowsiness		HP:0040283		orphadata	ORPHA:98913
221264	AK9	HP:0002878	Respiratory failure		HP:0040283		orphadata	ORPHA:98913
221264	AK9	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation		HP:0040282		orphadata	ORPHA:98913
221264	AK9	HP:0002792	Reduced vital capacity		HP:0040283		orphadata	ORPHA:98913
221264	AK9	HP:0000218	High palate		HP:0040282		orphadata	ORPHA:98913
221264	AK9	HP:0000508	Ptosis		HP:0040282		orphadata	ORPHA:98913
221264	AK9	HP:0030196	Fatigable weakness of respiratory muscles		HP:0040283		orphadata	ORPHA:98913
221264	AK9	HP:0030199	Fatigable weakness of neck muscles		HP:0040282		orphadata	ORPHA:98913
221264	AK9	HP:0003547	Shoulder girdle muscle weakness		HP:0040282		orphadata	ORPHA:98913
221264	AK9	HP:0000597	Ophthalmoparesis		HP:0040282		orphadata	ORPHA:98913
221264	AK9	HP:0002875	Exertional dyspnea		HP:0040283		orphadata	ORPHA:98913
221264	AK9	HP:0002194	Delayed gross motor development		HP:0040283		orphadata	ORPHA:98913
221264	AK9	HP:0031108	Triceps weakness		HP:0040283		orphadata	ORPHA:98913
221264	AK9	HP:0012515	Hip flexor weakness		HP:0040283		orphadata	ORPHA:98913
87	ACTN1	HP:0001873	Thrombocytopenia	13/13		-	mim2gene	OMIM:615193
87	ACTN1	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:615193
87	ACTN1	HP:0011877	Increased mean platelet volume	13/13		-	mim2gene	OMIM:615193
87	ACTN1	HP:0032438	Platelet anisocytosis	13/13		-	mim2gene	OMIM:615193
87	ACTN1	HP:0000421	Epistaxis	2/13		-	mim2gene	OMIM:615193
87	ACTN1	HP:0011273	Anisocytosis			-	mim2gene	OMIM:615193
88	ACTN2	HP:0001644	Dilated cardiomyopathy		HP:0040281		orphadata	ORPHA:154
88	ACTN2	HP:0003457	EMG abnormality		HP:0040283		orphadata	ORPHA:154
88	ACTN2	HP:0001874	Abnormality of neutrophils		HP:0040283		orphadata	ORPHA:154
88	ACTN2	HP:0003198	Myopathy		HP:0040283		orphadata	ORPHA:154
88	ACTN2	HP:0100578	Lipoatrophy		HP:0040283		orphadata	ORPHA:154
88	ACTN2	HP:0000407	Sensorineural hearing impairment		HP:0040283		orphadata	ORPHA:154
88	ACTN2	HP:0000982	Palmoplantar keratoderma		HP:0040283		orphadata	ORPHA:154
88	ACTN2	HP:0003236	Elevated serum creatine kinase		HP:0040283		orphadata	ORPHA:154
88	ACTN2	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:612158
88	ACTN2	HP:0001644	Dilated cardiomyopathy			-	mim2gene	OMIM:612158
88	ACTN2	HP:0001678	Atrioventricular block		HP:0040283	-	mim2gene	OMIM:612158
88	ACTN2	HP:0005110	Atrial fibrillation		HP:0040283	-	mim2gene	OMIM:612158
88	ACTN2	HP:0001712	Left ventricular hypertrophy		HP:0040283	-	mim2gene	OMIM:612158
88	ACTN2	HP:0006685	Endocardial fibrosis			-	mim2gene	OMIM:612158
88	ACTN2	HP:0030682	Left ventricular noncompaction		HP:0040283	-	mim2gene	OMIM:612158
88	ACTN2	HP:0001706	Endocardial fibroelastosis			-	mim2gene	OMIM:612158
88	ACTN2	HP:0001695	Cardiac arrest		HP:0040283	-	mim2gene	OMIM:612158
88	ACTN2	HP:0004755	Supraventricular tachycardia		HP:0040283	-	mim2gene	OMIM:612158
88	ACTN2	HP:0031319	Cardiomyocyte hypertrophy			-	mim2gene	OMIM:612158
90	ACVR1	HP:0011987	Ectopic ossification in muscle tissue		HP:0040281		orphadata	ORPHA:337
90	ACVR1	HP:0002093	Respiratory insufficiency		HP:0040282		orphadata	ORPHA:337
90	ACVR1	HP:0000501	Glaucoma		HP:0040283		orphadata	ORPHA:337
90	ACVR1	HP:0100240	Synostosis of joints		HP:0040283		orphadata	ORPHA:337
90	ACVR1	HP:0000365	Hearing impairment		HP:0040282		orphadata	ORPHA:337
90	ACVR1	HP:0001596	Alopecia		HP:0040282		orphadata	ORPHA:337
90	ACVR1	HP:0003306	Spinal rigidity		HP:0040281		orphadata	ORPHA:337
90	ACVR1	HP:0001482	Subcutaneous nodule		HP:0040281		orphadata	ORPHA:337
90	ACVR1	HP:0011989	Ectopic ossification in ligament tissue		HP:0040281		orphadata	ORPHA:337
90	ACVR1	HP:0001822	Hallux valgus		HP:0040283		orphadata	ORPHA:337
90	ACVR1	HP:0010109	Short hallux		HP:0040281		orphadata	ORPHA:337
90	ACVR1	HP:0001376	Limitation of joint mobility		HP:0040281		orphadata	ORPHA:337
90	ACVR1	HP:0001508	Failure to thrive		HP:0040283		orphadata	ORPHA:337
90	ACVR1	HP:0010058	Aplasia/Hypoplasia of the phalanges of the hallux		HP:0040282		orphadata	ORPHA:337
90	ACVR1	HP:0001250	Seizures		HP:0040283		orphadata	ORPHA:337
90	ACVR1	HP:0010054	Abnormality of the first metatarsal bone		HP:0040281		orphadata	ORPHA:337
90	ACVR1	HP:0001249	Intellectual disability		HP:0040283		orphadata	ORPHA:337
90	ACVR1	HP:0001903	Anemia		HP:0040283		orphadata	ORPHA:337
90	ACVR1	HP:0004209	Clinodactyly of the 5th finger		HP:0040282		orphadata	ORPHA:337
90	ACVR1	HP:0003468	Abnormal vertebral morphology		HP:0040281		orphadata	ORPHA:337
90	ACVR1	HP:0010566	Hamartoma			-	mim2gene	OMIM:135100
90	ACVR1	HP:0006429	Broad femoral neck			-	mim2gene	OMIM:135100
90	ACVR1	HP:0004629	Small cervical vertebral bodies			-	mim2gene	OMIM:135100
90	ACVR1	HP:0001596	Alopecia			-	mim2gene	OMIM:135100
90	ACVR1	HP:0000407	Sensorineural hearing impairment			-	mim2gene	OMIM:135100
90	ACVR1	HP:0002650	Scoliosis			-	mim2gene	OMIM:135100
90	ACVR1	HP:0011988	Ectopic ossification in tendon tissue			-	mim2gene	OMIM:135100
90	ACVR1	HP:0001249	Intellectual disability	6%		-	mim2gene	OMIM:135100
90	ACVR1	HP:0011987	Ectopic ossification in muscle tissue			-	mim2gene	OMIM:135100
90	ACVR1	HP:0001822	Hallux valgus			-	mim2gene	OMIM:135100
90	ACVR1	HP:0010034	Short 1st metacarpal			-	mim2gene	OMIM:135100
90	ACVR1	HP:0010109	Short hallux			-	mim2gene	OMIM:135100
90	ACVR1	HP:0001256	Intellectual disability, mild		HP:0040284	-	mim2gene	OMIM:135100
90	ACVR1	HP:0002878	Respiratory failure			-	mim2gene	OMIM:135100
90	ACVR1	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:135100
90	ACVR1	HP:0003016	Metaphyseal widening			-	mim2gene	OMIM:135100
90	ACVR1	HP:0000405	Conductive hearing impairment			-	mim2gene	OMIM:135100
90	ACVR1	HP:0008449	Progressive cervical vertebral spine fusion			-	mim2gene	OMIM:135100
90	ACVR1	HP:0002135	Basal ganglia calcification		HP:0040284	-	mim2gene	OMIM:135100
90	ACVR1	HP:0011989	Ectopic ossification in ligament tissue			-	mim2gene	OMIM:135100
90	ACVR1	HP:0000687	Widely spaced teeth			-	mim2gene	OMIM:135100
90	ACVR1	HP:0004209	Clinodactyly of the 5th finger			-	mim2gene	OMIM:135100
90	ACVR1	HP:0010054	Abnormality of the first metatarsal bone			-	mim2gene	OMIM:135100
8284	KDM5D	HP:0001450	Y-linked inheritance			-	mim2gene	OMIM:415000
8284	KDM5D	HP:0000027	Azoospermia			-	mim2gene	OMIM:415000
93	ACVR2B	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:613751
93	ACVR2B	HP:0006695	Atrioventricular canal defect			-	mim2gene	OMIM:613751
93	ACVR2B	HP:0001629	Ventricular septal defect			-	mim2gene	OMIM:613751
93	ACVR2B	HP:0010452	Ectopia of the spleen			-	mim2gene	OMIM:613751
93	ACVR2B	HP:0001651	Dextrocardia			-	mim2gene	OMIM:613751
93	ACVR2B	HP:0012020	Right aortic arch			-	mim2gene	OMIM:613751
94	ACVRL1	HP:0001694	Right-to-left shunt			-	mim2gene	OMIM:600376
94	ACVRL1	HP:0002249	Melena			-	mim2gene	OMIM:600376
94	ACVRL1	HP:0001250	Seizures			-	mim2gene	OMIM:600376
94	ACVRL1	HP:0001901	Polycythemia			-	mim2gene	OMIM:600376
94	ACVRL1	HP:0002408	Cerebral arteriovenous malformation			-	mim2gene	OMIM:600376
94	ACVRL1	HP:0000524	Conjunctival telangiectasia			-	mim2gene	OMIM:600376
94	ACVRL1	HP:0006107	Fingerpad telangiectases			-	mim2gene	OMIM:600376
94	ACVRL1	HP:0002604	Gastrointestinal telangiectasia			-	mim2gene	OMIM:600376
94	ACVRL1	HP:0001394	Cirrhosis			-	mim2gene	OMIM:600376
94	ACVRL1	HP:0002140	Ischemic stroke			-	mim2gene	OMIM:600376
94	ACVRL1	HP:0000822	Hypertension			-	mim2gene	OMIM:600376
94	ACVRL1	HP:0006574	Hepatic arteriovenous malformation			-	mim2gene	OMIM:600376
94	ACVRL1	HP:0004406	Spontaneous, recurrent epistaxis			-	mim2gene	OMIM:600376
94	ACVRL1	HP:0030491	Choriocapillaris atrophy			-	mim2gene	OMIM:600376
94	ACVRL1	HP:0002707	Palate telangiectasia			-	mim2gene	OMIM:600376
94	ACVRL1	HP:0006548	Pulmonary arteriovenous malformation			-	mim2gene	OMIM:600376
94	ACVRL1	HP:0000471	Gastrointestinal angiodysplasia			-	mim2gene	OMIM:600376
94	ACVRL1	HP:0001342	Cerebral hemorrhage			-	mim2gene	OMIM:600376
94	ACVRL1	HP:0002326	Transient ischemic attack			-	mim2gene	OMIM:600376
94	ACVRL1	HP:0000434	Nasal mucosa telangiectasia			-	mim2gene	OMIM:600376
94	ACVRL1	HP:0002138	Subarachnoid hemorrhage			-	mim2gene	OMIM:600376
94	ACVRL1	HP:0002094	Dyspnea			-	mim2gene	OMIM:600376
94	ACVRL1	HP:0002390	Spinal arteriovenous malformation			-	mim2gene	OMIM:600376
94	ACVRL1	HP:0001903	Anemia			-	mim2gene	OMIM:600376
94	ACVRL1	HP:0002248	Hematemesis			-	mim2gene	OMIM:600376
94	ACVRL1	HP:0002629	Gastrointestinal arteriovenous malformation			-	mim2gene	OMIM:600376
94	ACVRL1	HP:0002076	Migraine			-	mim2gene	OMIM:600376
94	ACVRL1	HP:0001425	Heterogeneous			-	mim2gene	OMIM:600376
94	ACVRL1	HP:0002573	Hematochezia			-	mim2gene	OMIM:600376
94	ACVRL1	HP:0000214	Lip telangiectasia			-	mim2gene	OMIM:600376
94	ACVRL1	HP:0001217	Clubbing			-	mim2gene	OMIM:600376
94	ACVRL1	HP:0000227	Tongue telangiectasia			-	mim2gene	OMIM:600376
94	ACVRL1	HP:0001232	Nail bed telangiectasia			-	mim2gene	OMIM:600376
94	ACVRL1	HP:0002092	Pulmonary arterial hypertension			-	mim2gene	OMIM:600376
94	ACVRL1	HP:0030049	Brain abscess			-	mim2gene	OMIM:600376
94	ACVRL1	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:600376
94	ACVRL1	HP:0000961	Cyanosis			-	mim2gene	OMIM:600376
94	ACVRL1	HP:0007420	Spontaneous hematomas		HP:0040282		orphadata	ORPHA:774
94	ACVRL1	HP:0001635	Congestive heart failure		HP:0040283		orphadata	ORPHA:774
94	ACVRL1	HP:0002239	Gastrointestinal hemorrhage		HP:0040283		orphadata	ORPHA:774
94	ACVRL1	HP:0001342	Cerebral hemorrhage		HP:0040283		orphadata	ORPHA:774
94	ACVRL1	HP:0001935	Microcytic anemia		HP:0040282		orphadata	ORPHA:774
94	ACVRL1	HP:0001081	Cholelithiasis		HP:0040283		orphadata	ORPHA:774
94	ACVRL1	HP:0000646	Amblyopia		HP:0040283		orphadata	ORPHA:774
94	ACVRL1	HP:0001250	Seizures		HP:0040283		orphadata	ORPHA:774
94	ACVRL1	HP:0100585	Telangiectasia of the skin		HP:0040281		orphadata	ORPHA:774
94	ACVRL1	HP:0004936	Venous thrombosis		HP:0040283		orphadata	ORPHA:774
94	ACVRL1	HP:0100761	Visceral angiomatosis		HP:0040282		orphadata	ORPHA:774
94	ACVRL1	HP:0100784	Peripheral arteriovenous fistula		HP:0040283		orphadata	ORPHA:774
94	ACVRL1	HP:0002326	Transient ischemic attack		HP:0040283		orphadata	ORPHA:774
94	ACVRL1	HP:0001394	Cirrhosis		HP:0040283		orphadata	ORPHA:774
94	ACVRL1	HP:0000790	Hematuria		HP:0040283		orphadata	ORPHA:774
94	ACVRL1	HP:0001048	Cavernous hemangioma		HP:0040282		orphadata	ORPHA:774
94	ACVRL1	HP:0001399	Hepatic failure		HP:0040283		orphadata	ORPHA:774
94	ACVRL1	HP:0002105	Hemoptysis		HP:0040283		orphadata	ORPHA:774
94	ACVRL1	HP:0001082	Cholecystitis		HP:0040282		orphadata	ORPHA:774
94	ACVRL1	HP:0001409	Portal hypertension		HP:0040282		orphadata	ORPHA:774
94	ACVRL1	HP:0200008	Intestinal polyposis		HP:0040283		orphadata	ORPHA:774
94	ACVRL1	HP:0000421	Epistaxis		HP:0040281		orphadata	ORPHA:774
94	ACVRL1	HP:0002138	Subarachnoid hemorrhage		HP:0040283		orphadata	ORPHA:774
94	ACVRL1	HP:0002040	Esophageal varix		HP:0040283		orphadata	ORPHA:774
94	ACVRL1	HP:0000524	Conjunctival telangiectasia		HP:0040283		orphadata	ORPHA:774
94	ACVRL1	HP:0000787	Nephrolithiasis		HP:0040283		orphadata	ORPHA:774
94	ACVRL1	HP:0002076	Migraine		HP:0040282		orphadata	ORPHA:774
94	ACVRL1	HP:0002092	Pulmonary arterial hypertension		HP:0040283		orphadata	ORPHA:774
94	ACVRL1	HP:0002204	Pulmonary embolism		HP:0040283		orphadata	ORPHA:774
94	ACVRL1	HP:0007763	Retinal telangiectasia		HP:0040283		orphadata	ORPHA:774
8287	USP9Y	HP:0001450	Y-linked inheritance			-	mim2gene	OMIM:415000
8287	USP9Y	HP:0000027	Azoospermia			-	mim2gene	OMIM:415000
8287	USP9Y	HP:0000798	Oligospermia		HP:0040282		orphadata	ORPHA:1646
8287	USP9Y	HP:0008734	Decreased testicular size		HP:0040281		orphadata	ORPHA:1646
8287	USP9Y	HP:0003251	Male infertility		HP:0040281		orphadata	ORPHA:1646
8287	USP9Y	HP:0000028	Cryptorchidism		HP:0040283		orphadata	ORPHA:1646
8287	USP9Y	HP:0011961	Non-obstructive azoospermia		HP:0040281		orphadata	ORPHA:1646
95	ACY1	HP:0002188	Delayed CNS myelination			-	mim2gene	OMIM:609924
95	ACY1	HP:0001250	Seizures			-	mim2gene	OMIM:609924
95	ACY1	HP:0001252	Muscular hypotonia			-	mim2gene	OMIM:609924
95	ACY1	HP:0001290	Generalized hypotonia			-	mim2gene	OMIM:609924
95	ACY1	HP:0001324	Muscle weakness			-	mim2gene	OMIM:609924
95	ACY1	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:609924
95	ACY1	HP:0000752	Hyperactivity			-	mim2gene	OMIM:609924
95	ACY1	HP:0006846	Acute encephalopathy			-	mim2gene	OMIM:609924
95	ACY1	HP:0002059	Cerebral atrophy			-	mim2gene	OMIM:609924
95	ACY1	HP:0001263	Global developmental delay			-	mim2gene	OMIM:609924
95	ACY1	HP:0000431	Wide nasal bridge			-	mim2gene	OMIM:609924
95	ACY1	HP:0001272	Cerebellar atrophy			-	mim2gene	OMIM:609924
95	ACY1	HP:0025356	Psychomotor retardation			-	mim2gene	OMIM:609924
95	ACY1	HP:0000316	Hypertelorism			-	mim2gene	OMIM:609924
95	ACY1	HP:0000407	Sensorineural hearing impairment			-	mim2gene	OMIM:609924
95	ACY1	HP:0000445	Wide nose		HP:0040284		orphadata	ORPHA:137754
95	ACY1	HP:0003324	Generalized muscle weakness		HP:0040282		orphadata	ORPHA:137754
95	ACY1	HP:0007370	Aplasia/Hypoplasia of the corpus callosum		HP:0040283		orphadata	ORPHA:137754
95	ACY1	HP:0001263	Global developmental delay		HP:0040283		orphadata	ORPHA:137754
95	ACY1	HP:0002013	Vomiting		HP:0040283		orphadata	ORPHA:137754
95	ACY1	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis		HP:0040283		orphadata	ORPHA:137754
95	ACY1	HP:0001298	Encephalopathy		HP:0040282		orphadata	ORPHA:137754
95	ACY1	HP:0001250	Seizures		HP:0040283		orphadata	ORPHA:137754
95	ACY1	HP:0001252	Muscular hypotonia		HP:0040282		orphadata	ORPHA:137754
95	ACY1	HP:0002104	Apnea		HP:0040283		orphadata	ORPHA:137754
95	ACY1	HP:0000316	Hypertelorism		HP:0040284		orphadata	ORPHA:137754
95	ACY1	HP:0000407	Sensorineural hearing impairment		HP:0040284		orphadata	ORPHA:137754
95	ACY1	HP:0003396	Syringomyelia		HP:0040283		orphadata	ORPHA:137754
8289	ARID1A	HP:0006498	Aplasia/Hypoplasia of the patella		HP:0040282		orphadata	ORPHA:1465
8289	ARID1A	HP:0000639	Nystagmus		HP:0040282		orphadata	ORPHA:1465
8289	ARID1A	HP:0000508	Ptosis		HP:0040283		orphadata	ORPHA:1465
8289	ARID1A	HP:0003298	Spina bifida occulta		HP:0040283		orphadata	ORPHA:1465
8289	ARID1A	HP:0000175	Cleft palate		HP:0040283		orphadata	ORPHA:1465
8289	ARID1A	HP:0000154	Wide mouth		HP:0040282		orphadata	ORPHA:1465
8289	ARID1A	HP:0100371	Aplasia/Hypoplasia of the distal phalanx of the 5th toe		HP:0040283		orphadata	ORPHA:1465
8289	ARID1A	HP:0001511	Intrauterine growth retardation		HP:0040282		orphadata	ORPHA:1465
8289	ARID1A	HP:0002673	Coxa valga		HP:0040283		orphadata	ORPHA:1465
8289	ARID1A	HP:0001250	Seizures		HP:0040282		orphadata	ORPHA:1465
8289	ARID1A	HP:0000527	Long eyelashes		HP:0040281		orphadata	ORPHA:1465
8289	ARID1A	HP:0009239	Aplasia/Hypoplasia of the distal phalanx of the 5th finger		HP:0040281		orphadata	ORPHA:1465
8289	ARID1A	HP:0000322	Short philtrum		HP:0040283		orphadata	ORPHA:1465
8289	ARID1A	HP:0000365	Hearing impairment		HP:0040282		orphadata	ORPHA:1465
8289	ARID1A	HP:0007360	Aplasia/Hypoplasia of the cerebellum		HP:0040282		orphadata	ORPHA:1465
8289	ARID1A	HP:0009882	Short distal phalanx of finger		HP:0040281		orphadata	ORPHA:1465
8289	ARID1A	HP:0002205	Recurrent respiratory infections		HP:0040282		orphadata	ORPHA:1465
8289	ARID1A	HP:0000776	Congenital diaphragmatic hernia		HP:0040283		orphadata	ORPHA:1465
8289	ARID1A	HP:0001249	Intellectual disability		HP:0040281		orphadata	ORPHA:1465
8289	ARID1A	HP:0000965	Cutis marmorata		HP:0040283		orphadata	ORPHA:1465
8289	ARID1A	HP:0004322	Short stature		HP:0040281		orphadata	ORPHA:1465
8289	ARID1A	HP:0030680	Abnormality of cardiovascular system morphology		HP:0040282		orphadata	ORPHA:1465
8289	ARID1A	HP:0000286	Epicanthus		HP:0040283		orphadata	ORPHA:1465
8289	ARID1A	HP:0005108	Abnormality of the intervertebral disk		HP:0040283		orphadata	ORPHA:1465
8289	ARID1A	HP:0000164	Abnormality of the dentition		HP:0040281		orphadata	ORPHA:1465
8289	ARID1A	HP:0000028	Cryptorchidism		HP:0040282		orphadata	ORPHA:1465
8289	ARID1A	HP:0011937	Hypoplastic fifth toenail		HP:0040283		orphadata	ORPHA:1465
8289	ARID1A	HP:0008678	Renal hypoplasia/aplasia		HP:0040283		orphadata	ORPHA:1465
8289	ARID1A	HP:0000574	Thick eyebrow		HP:0040281		orphadata	ORPHA:1465
8289	ARID1A	HP:0000632	Lacrimation abnormality		HP:0040283		orphadata	ORPHA:1465
8289	ARID1A	HP:0000518	Cataract		HP:0040283		orphadata	ORPHA:1465
8289	ARID1A	HP:0000486	Strabismus		HP:0040282		orphadata	ORPHA:1465
8289	ARID1A	HP:0001338	Partial agenesis of the corpus callosum		HP:0040283		orphadata	ORPHA:1465
8289	ARID1A	HP:0001263	Global developmental delay		HP:0040281		orphadata	ORPHA:1465
8289	ARID1A	HP:0000457	Depressed nasal ridge		HP:0040282		orphadata	ORPHA:1465
8289	ARID1A	HP:0000252	Microcephaly		HP:0040281		orphadata	ORPHA:1465
8289	ARID1A	HP:0001252	Muscular hypotonia		HP:0040281		orphadata	ORPHA:1465
8289	ARID1A	HP:0007598	Bilateral single transverse palmar creases		HP:0040283		orphadata	ORPHA:1465
8289	ARID1A	HP:0001305	Dandy-Walker malformation		HP:0040282		orphadata	ORPHA:1465
8289	ARID1A	HP:0002808	Kyphosis		HP:0040283		orphadata	ORPHA:1465
8289	ARID1A	HP:0002650	Scoliosis		HP:0040282		orphadata	ORPHA:1465
8289	ARID1A	HP:0003042	Elbow dislocation		HP:0040282		orphadata	ORPHA:1465
8289	ARID1A	HP:0000086	Ectopic kidney		HP:0040283		orphadata	ORPHA:1465
8289	ARID1A	HP:0000889	Abnormality of the clavicle		HP:0040283		orphadata	ORPHA:1465
8289	ARID1A	HP:0008398	Hypoplastic fifth fingernail		HP:0040281		orphadata	ORPHA:1465
8289	ARID1A	HP:0002230	Generalized hirsutism		HP:0040281		orphadata	ORPHA:1465
8289	ARID1A	HP:0002217	Slow-growing hair		HP:0040281		orphadata	ORPHA:1465
8289	ARID1A	HP:0002079	Hypoplasia of the corpus callosum		HP:0040283		orphadata	ORPHA:1465
8289	ARID1A	HP:0005692	Joint hyperflexibility		HP:0040282		orphadata	ORPHA:1465
8289	ARID1A	HP:0003272	Abnormality of the hip bone		HP:0040283		orphadata	ORPHA:1465
8289	ARID1A	HP:0008872	Feeding difficulties in infancy		HP:0040281		orphadata	ORPHA:1465
8289	ARID1A	HP:0000179	Thick lower lip vermilion		HP:0040281		orphadata	ORPHA:1465
8289	ARID1A	HP:0000126	Hydronephrosis		HP:0040283		orphadata	ORPHA:1465
8289	ARID1A	HP:0000280	Coarse facial features		HP:0040281		orphadata	ORPHA:1465
8289	ARID1A	HP:0000431	Wide nasal bridge		HP:0040281		orphadata	ORPHA:1465
8289	ARID1A	HP:0005280	Depressed nasal bridge		HP:0040282		orphadata	ORPHA:1465
8289	ARID1A	HP:0001290	Generalized hypotonia			-	mim2gene	OMIM:614607
8289	ARID1A	HP:0001263	Global developmental delay			-	mim2gene	OMIM:614607
8289	ARID1A	HP:0000377	Abnormality of the pinna			-	mim2gene	OMIM:614607
8289	ARID1A	HP:0005280	Depressed nasal bridge			-	mim2gene	OMIM:614607
8289	ARID1A	HP:0001627	Abnormal heart morphology			-	mim2gene	OMIM:614607
8289	ARID1A	HP:0001156	Brachydactyly			-	mim2gene	OMIM:614607
8289	ARID1A	HP:0000750	Delayed speech and language development			-	mim2gene	OMIM:614607
8289	ARID1A	HP:0000527	Long eyelashes	3/3		-	mim2gene	OMIM:614607
8289	ARID1A	HP:0001250	Seizures		HP:0040283	-	mim2gene	OMIM:614607
8289	ARID1A	HP:0030680	Abnormality of cardiovascular system morphology			-	mim2gene	OMIM:614607
8289	ARID1A	HP:0001249	Intellectual disability			-	mim2gene	OMIM:614607
8289	ARID1A	HP:0000280	Coarse facial features	3/3		-	mim2gene	OMIM:614607
8289	ARID1A	HP:0000179	Thick lower lip vermilion	3/3		-	mim2gene	OMIM:614607
8289	ARID1A	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:614607
8289	ARID1A	HP:0000158	Macroglossia			-	mim2gene	OMIM:614607
8289	ARID1A	HP:0000505	Visual impairment			-	mim2gene	OMIM:614607
8289	ARID1A	HP:0000574	Thick eyebrow			-	mim2gene	OMIM:614607
8289	ARID1A	HP:0011968	Feeding difficulties	3/3		-	mim2gene	OMIM:614607
8289	ARID1A	HP:0001792	Small nail			-	mim2gene	OMIM:614607
8289	ARID1A	HP:0000154	Wide mouth	3/3		-	mim2gene	OMIM:614607
8289	ARID1A	HP:0004322	Short stature		HP:0040283	-	mim2gene	OMIM:614607
8289	ARID1A	HP:0000463	Anteverted nares			-	mim2gene	OMIM:614607
8289	ARID1A	HP:0000998	Hypertrichosis			-	mim2gene	OMIM:614607
8289	ARID1A	HP:0001273	Abnormal corpus callosum morphology	3/3		-	mim2gene	OMIM:614607
8289	ARID1A	HP:0002719	Recurrent infections	3/3		-	mim2gene	OMIM:614607
8289	ARID1A	HP:0200105	Absent fifth toenail	3/3		-	mim2gene	OMIM:614607
8289	ARID1A	HP:0002750	Delayed skeletal maturation			-	mim2gene	OMIM:614607
8289	ARID1A	HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand			-	mim2gene	OMIM:614607
8289	ARID1A	HP:0000294	Low anterior hairline			-	mim2gene	OMIM:614607
8289	ARID1A	HP:0002209	Sparse scalp hair	3/3		-	mim2gene	OMIM:614607
8289	ARID1A	HP:0200104	Absent fifth fingernail	3/3		-	mim2gene	OMIM:614607
8289	ARID1A	HP:0000445	Wide nose			-	mim2gene	OMIM:614607
8291	DYSF	HP:0003325	Limb-girdle muscle weakness		HP:0040283		orphadata	ORPHA:178400
8291	DYSF	HP:0008963	Tibialis muscle weakness		HP:0040282		orphadata	ORPHA:178400
8291	DYSF	HP:0030114	Absent muscle fiber dysferlin		HP:0040281		orphadata	ORPHA:178400
8291	DYSF	HP:0008954	Intrinsic hand muscle atrophy		HP:0040283		orphadata	ORPHA:178400
8291	DYSF	HP:0009073	Progressive proximal muscle weakness		HP:0040282		orphadata	ORPHA:178400
8291	DYSF	HP:0031177	Finger flexor weakness		HP:0040284		orphadata	ORPHA:178400
8291	DYSF	HP:0003738	Exercise-induced myalgia		HP:0040282		orphadata	ORPHA:178400
8291	DYSF	HP:0009005	Weakness of the intrinsic hand muscles		HP:0040283		orphadata	ORPHA:178400
8291	DYSF	HP:0003438	Absent Achilles reflex		HP:0040283		orphadata	ORPHA:178400
8291	DYSF	HP:0040081	Abnormal circulating creatine kinase concentration		HP:0040281		orphadata	ORPHA:178400
8291	DYSF	HP:0002072	Chorea		HP:0040284		orphadata	ORPHA:268
8291	DYSF	HP:0100515	Pollakisuria		HP:0040284		orphadata	ORPHA:268
8291	DYSF	HP:0003115	Abnormal EKG		HP:0040283		orphadata	ORPHA:268
8291	DYSF	HP:0001315	Reduced tendon reflexes		HP:0040283		orphadata	ORPHA:268
8291	DYSF	HP:0003722	Neck flexor weakness		HP:0040283		orphadata	ORPHA:268
8291	DYSF	HP:0008800	Limited hip movement		HP:0040284		orphadata	ORPHA:268
8291	DYSF	HP:0001640	Cardiomegaly		HP:0040283		orphadata	ORPHA:268
8291	DYSF	HP:0008994	Proximal muscle weakness in lower limbs		HP:0040282		orphadata	ORPHA:268
8291	DYSF	HP:0008959	Distal upper limb muscle weakness		HP:0040284		orphadata	ORPHA:268
8291	DYSF	HP:0003551	Difficulty climbing stairs		HP:0040283		orphadata	ORPHA:268
8291	DYSF	HP:0002540	Inability to walk		HP:0040284		orphadata	ORPHA:268
8291	DYSF	HP:0001667	Right ventricular hypertrophy		HP:0040283		orphadata	ORPHA:268
8291	DYSF	HP:0009046	Difficulty running		HP:0040283		orphadata	ORPHA:268
8291	DYSF	HP:0012664	Reduced ejection fraction		HP:0040283		orphadata	ORPHA:268
8291	DYSF	HP:0003236	Elevated serum creatine kinase		HP:0040281		orphadata	ORPHA:268
8291	DYSF	HP:0003307	Hyperlordosis		HP:0040283		orphadata	ORPHA:268
8291	DYSF	HP:0001761	Pes cavus		HP:0040283		orphadata	ORPHA:268
8291	DYSF	HP:0045054	Brachial plexus neuropathy		HP:0040284		orphadata	ORPHA:268
8291	DYSF	HP:0002015	Dysphagia		HP:0040284		orphadata	ORPHA:268
8291	DYSF	HP:0003306	Spinal rigidity		HP:0040284		orphadata	ORPHA:268
8291	DYSF	HP:0030051	Tip-toe gait		HP:0040284		orphadata	ORPHA:268
8291	DYSF	HP:0011712	Right bundle branch block		HP:0040283		orphadata	ORPHA:268
8291	DYSF	HP:0008981	Calf muscle hypertrophy		HP:0040283		orphadata	ORPHA:268
8291	DYSF	HP:0007340	Lower limb muscle weakness		HP:0040282		orphadata	ORPHA:268
8291	DYSF	HP:0005085	Limited knee flexion/extension		HP:0040284		orphadata	ORPHA:268
8291	DYSF	HP:0100748	Muscular edema		HP:0040283		orphadata	ORPHA:268
8291	DYSF	HP:0002996	Limited elbow movement		HP:0040284		orphadata	ORPHA:268
8291	DYSF	HP:0003691	Scapular winging		HP:0040283		orphadata	ORPHA:268
8291	DYSF	HP:0008997	Proximal muscle weakness in upper limbs		HP:0040283		orphadata	ORPHA:268
8291	DYSF	HP:0009072	Decreased Achilles reflex			-	mim2gene	OMIM:254130
8291	DYSF	HP:0003551	Difficulty climbing stairs			-	mim2gene	OMIM:254130
8291	DYSF	HP:0040083	Toe walking			-	mim2gene	OMIM:254130
8291	DYSF	HP:0003581	Adult onset		HP:0040282	-	mim2gene	OMIM:254130
8291	DYSF	HP:0003791	Deposits immunoreactive to beta-amyloid protein		HP:0040283	-	mim2gene	OMIM:254130
8291	DYSF	HP:0001425	Heterogeneous			-	mim2gene	OMIM:254130
8291	DYSF	HP:0003693	Distal amyotrophy			-	mim2gene	OMIM:254130
8291	DYSF	HP:0003236	Elevated serum creatine kinase			-	mim2gene	OMIM:254130
8291	DYSF	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:254130
8291	DYSF	HP:0010546	Muscle fibrillation			-	mim2gene	OMIM:254130
8291	DYSF	HP:0007340	Lower limb muscle weakness			-	mim2gene	OMIM:254130
8291	DYSF	HP:0002460	Distal muscle weakness			-	mim2gene	OMIM:254130
8291	DYSF	HP:0003560	Muscular dystrophy			-	mim2gene	OMIM:254130
8291	DYSF	HP:0200101	Decreased/absent ankle reflexes			-	mim2gene	OMIM:254130
8291	DYSF	HP:0003678	Rapidly progressive			-	mim2gene	OMIM:606768
8291	DYSF	HP:0003236	Elevated serum creatine kinase			-	mim2gene	OMIM:606768
8291	DYSF	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:606768
8291	DYSF	HP:0003198	Myopathy			-	mim2gene	OMIM:606768
8291	DYSF	HP:0003693	Distal amyotrophy			-	mim2gene	OMIM:606768
8291	DYSF	HP:0002460	Distal muscle weakness			-	mim2gene	OMIM:606768
8291	DYSF	HP:0003698	Difficulty standing		HP:0040282		orphadata	ORPHA:45448
8291	DYSF	HP:0007149	Distal upper limb amyotrophy		HP:0040282		orphadata	ORPHA:45448
8291	DYSF	HP:0006957	Loss of ability to walk		HP:0040283		orphadata	ORPHA:45448
8291	DYSF	HP:0007126	Proximal amyotrophy		HP:0040282		orphadata	ORPHA:45448
8291	DYSF	HP:0011399	Tibialis atrophy		HP:0040282		orphadata	ORPHA:45448
8291	DYSF	HP:0003551	Difficulty climbing stairs		HP:0040282		orphadata	ORPHA:45448
8291	DYSF	HP:0003738	Exercise-induced myalgia		HP:0040282		orphadata	ORPHA:45448
8291	DYSF	HP:0003731	Quadriceps muscle weakness		HP:0040282		orphadata	ORPHA:45448
8291	DYSF	HP:0008981	Calf muscle hypertrophy		HP:0040283		orphadata	ORPHA:45448
8291	DYSF	HP:0200101	Decreased/absent ankle reflexes		HP:0040283		orphadata	ORPHA:45448
8291	DYSF	HP:0003547	Shoulder girdle muscle weakness		HP:0040282		orphadata	ORPHA:45448
8291	DYSF	HP:0003749	Pelvic girdle muscle weakness		HP:0040282		orphadata	ORPHA:45448
8291	DYSF	HP:0031108	Triceps weakness		HP:0040283		orphadata	ORPHA:45448
8291	DYSF	HP:0008963	Tibialis muscle weakness		HP:0040282		orphadata	ORPHA:45448
8291	DYSF	HP:0040083	Toe walking		HP:0040283		orphadata	ORPHA:45448
8291	DYSF	HP:0002355	Difficulty walking		HP:0040282		orphadata	ORPHA:45448
8291	DYSF	HP:0009027	Foot dorsiflexor weakness		HP:0040283		orphadata	ORPHA:45448
8291	DYSF	HP:0003560	Muscular dystrophy			-	mim2gene	OMIM:253601
8291	DYSF	HP:0003701	Proximal muscle weakness			-	mim2gene	OMIM:253601
8291	DYSF	HP:0012378	Fatigue			-	mim2gene	OMIM:253601
8291	DYSF	HP:0003236	Elevated serum creatine kinase			-	mim2gene	OMIM:253601
8291	DYSF	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:253601
8291	DYSF	HP:0003551	Difficulty climbing stairs			-	mim2gene	OMIM:253601
8291	DYSF	HP:0003557	Increased variability in muscle fiber diameter			-	mim2gene	OMIM:253601
8291	DYSF	HP:0003677	Slow progression			-	mim2gene	OMIM:253601
8291	DYSF	HP:0009025	Increased connective tissue			-	mim2gene	OMIM:253601
8291	DYSF	HP:0003458	EMG: myopathic abnormalities			-	mim2gene	OMIM:253601
8291	DYSF	HP:0009046	Difficulty running			-	mim2gene	OMIM:253601
8291	DYSF	HP:0003555	Muscle fiber splitting			-	mim2gene	OMIM:253601
100	ADA	HP:0001967	Diffuse mesangial sclerosis			-	mim2gene	OMIM:102700
100	ADA	HP:0010976	B lymphocytopenia			-	mim2gene	OMIM:102700
100	ADA	HP:0001973	Autoimmune thrombocytopenia			-	mim2gene	OMIM:102700
100	ADA	HP:0002014	Diarrhea			-	mim2gene	OMIM:102700
100	ADA	HP:0002718	Recurrent bacterial infections			-	mim2gene	OMIM:102700
100	ADA	HP:0001744	Splenomegaly			-	mim2gene	OMIM:102700
100	ADA	HP:0005424	Absent specific antibody response			-	mim2gene	OMIM:102700
100	ADA	HP:0000926	Platyspondyly			-	mim2gene	OMIM:102700
100	ADA	HP:0001880	Eosinophilia			-	mim2gene	OMIM:102700
100	ADA	HP:0002240	Hepatomegaly			-	mim2gene	OMIM:102700
100	ADA	HP:0002720	Decreased circulating IgA level			-	mim2gene	OMIM:102700
100	ADA	HP:0030273	Reduced red cell adenosine deaminase activity			-	mim2gene	OMIM:102700
100	ADA	HP:0005365	Severe B lymphocytopenia			-	mim2gene	OMIM:102700
100	ADA	HP:0000246	Sinusitis			-	mim2gene	OMIM:102700
100	ADA	HP:0002090	Pneumonia			-	mim2gene	OMIM:102700
100	ADA	HP:0005359	Aplasia of the thymus			-	mim2gene	OMIM:102700
100	ADA	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:102700
100	ADA	HP:0000907	Anterior rib cupping			-	mim2gene	OMIM:102700
100	ADA	HP:0002644	Abnormality of pelvic girdle bone morphology			-	mim2gene	OMIM:102700
100	ADA	HP:0004430	Severe combined immunodeficiency			-	mim2gene	OMIM:102700
100	ADA	HP:0031164	Growth arrest lines			-	mim2gene	OMIM:102700
100	ADA	HP:0002850	Decreased circulating total IgM			-	mim2gene	OMIM:102700
100	ADA	HP:0008348	Decreased circulating IgG2 level			-	mim2gene	OMIM:102700
100	ADA	HP:0001508	Failure to thrive			-	mim2gene	OMIM:102700
100	ADA	HP:0012191	B-cell lymphoma			-	mim2gene	OMIM:102700
100	ADA	HP:0001890	Autoimmune hemolytic anemia			-	mim2gene	OMIM:102700
100	ADA	HP:0002841	Recurrent fungal infections			-	mim2gene	OMIM:102700
100	ADA	HP:0003212	Increased circulating total IgE level			-	mim2gene	OMIM:102700
100	ADA	HP:0004429	Recurrent viral infections			-	mim2gene	OMIM:102700
100	ADA	HP:0002099	Asthma			-	mim2gene	OMIM:102700
100	ADA	HP:0001442	Somatic mosaicism			-	mim2gene	OMIM:102700
100	ADA	HP:0100840	Aplasia/Hypoplasia of the eyebrow		HP:0040282		orphadata	ORPHA:39041
100	ADA	HP:0002960	Autoimmunity		HP:0040283		orphadata	ORPHA:39041
100	ADA	HP:0002240	Hepatomegaly		HP:0040281		orphadata	ORPHA:39041
100	ADA	HP:0001596	Alopecia		HP:0040281		orphadata	ORPHA:39041
100	ADA	HP:0001744	Splenomegaly		HP:0040282		orphadata	ORPHA:39041
100	ADA	HP:0000944	Abnormality of the metaphysis		HP:0040283		orphadata	ORPHA:39041
100	ADA	HP:0100646	Thyroiditis		HP:0040283		orphadata	ORPHA:39041
100	ADA	HP:0002716	Lymphadenopathy		HP:0040281		orphadata	ORPHA:39041
100	ADA	HP:0000100	Nephrotic syndrome		HP:0040283		orphadata	ORPHA:39041
100	ADA	HP:0001880	Eosinophilia		HP:0040282		orphadata	ORPHA:39041
100	ADA	HP:0000821	Hypothyroidism		HP:0040283		orphadata	ORPHA:39041
100	ADA	HP:0100806	Sepsis		HP:0040283		orphadata	ORPHA:39041
100	ADA	HP:0001831	Short toe		HP:0040283		orphadata	ORPHA:39041
100	ADA	HP:0000958	Dry skin		HP:0040282		orphadata	ORPHA:39041
100	ADA	HP:0001945	Fever		HP:0040282		orphadata	ORPHA:39041
100	ADA	HP:0002665	Lymphoma		HP:0040283		orphadata	ORPHA:39041
100	ADA	HP:0004430	Severe combined immunodeficiency		HP:0040281		orphadata	ORPHA:39041
100	ADA	HP:0000989	Pruritus		HP:0040282		orphadata	ORPHA:39041
100	ADA	HP:0001072	Thickened skin		HP:0040282		orphadata	ORPHA:39041
100	ADA	HP:0002090	Pneumonia		HP:0040282		orphadata	ORPHA:39041
100	ADA	HP:0001903	Anemia		HP:0040283		orphadata	ORPHA:39041
100	ADA	HP:0000969	Edema		HP:0040282		orphadata	ORPHA:39041
100	ADA	HP:0004332	Abnormal lymphocyte morphology		HP:0040281		orphadata	ORPHA:39041
100	ADA	HP:0001019	Erythroderma		HP:0040281		orphadata	ORPHA:39041
100	ADA	HP:0001508	Failure to thrive		HP:0040281		orphadata	ORPHA:39041
100	ADA	HP:0007549	Desquamation of skin soon after birth		HP:0040282		orphadata	ORPHA:39041
100	ADA	HP:0002028	Chronic diarrhea		HP:0040281		orphadata	ORPHA:39041
100	ADA	HP:0011123	Inflammatory abnormality of the skin		HP:0040282		orphadata	ORPHA:277
100	ADA	HP:0000246	Sinusitis		HP:0040282		orphadata	ORPHA:277
100	ADA	HP:0010444	Pulmonary insufficiency		HP:0040282		orphadata	ORPHA:277
100	ADA	HP:0002788	Recurrent upper respiratory tract infections		HP:0040282		orphadata	ORPHA:277
100	ADA	HP:0003212	Increased circulating total IgE level		HP:0040282		orphadata	ORPHA:277
100	ADA	HP:0025379	Anti-thyroid peroxidase antibody positivity		HP:0040282		orphadata	ORPHA:277
100	ADA	HP:0006532	Recurrent pneumonia		HP:0040282		orphadata	ORPHA:277
100	ADA	HP:0002849	Absence of lymph node germinal center		HP:0040282		orphadata	ORPHA:277
100	ADA	HP:0005390	Recurrent opportunistic infections		HP:0040282		orphadata	ORPHA:277
100	ADA	HP:0005403	Decrease in T cell count		HP:0040282		orphadata	ORPHA:277
100	ADA	HP:0002014	Diarrhea		HP:0040282		orphadata	ORPHA:277
100	ADA	HP:0012393	Allergy		HP:0040282		orphadata	ORPHA:277
100	ADA	HP:0000403	Recurrent otitis media		HP:0040282		orphadata	ORPHA:277
100	ADA	HP:0001508	Failure to thrive		HP:0040282		orphadata	ORPHA:277
100	ADA	HP:0005354	Lack of T cell function		HP:0040282		orphadata	ORPHA:277
100	ADA	HP:0010976	B lymphocytopenia		HP:0040282		orphadata	ORPHA:277
100	ADA	HP:0030813	Absent tonsils		HP:0040282		orphadata	ORPHA:277
8292	COLQ	HP:0002643	Neonatal respiratory distress		HP:0040283		orphadata	ORPHA:98915
8292	COLQ	HP:0002092	Pulmonary arterial hypertension		HP:0040284		orphadata	ORPHA:98915
8292	COLQ	HP:0003443	Decreased size of nerve terminals		HP:0040282		orphadata	ORPHA:98915
8292	COLQ	HP:0005216	Impaired mastication		HP:0040283		orphadata	ORPHA:98915
8292	COLQ	HP:0010535	Sleep apnea		HP:0040283		orphadata	ORPHA:98915
8292	COLQ	HP:0001999	Abnormal facial shape		HP:0040284		orphadata	ORPHA:98915
8292	COLQ	HP:0002015	Dysphagia		HP:0040282		orphadata	ORPHA:98915
8292	COLQ	HP:0030203	Unfavorable response of muscle weakness to acetylcholine esterase inhibitors		HP:0040282		orphadata	ORPHA:98915
8292	COLQ	HP:0001762	Talipes equinovarus		HP:0040284		orphadata	ORPHA:98915
8292	COLQ	HP:0001612	Weak cry		HP:0040282		orphadata	ORPHA:98915
8292	COLQ	HP:0002359	Frequent falls		HP:0040284		orphadata	ORPHA:98915
8292	COLQ	HP:0000303	Mandibular prognathia		HP:0040284		orphadata	ORPHA:98915
8292	COLQ	HP:0002515	Waddling gait		HP:0040282		orphadata	ORPHA:98915
8292	COLQ	HP:0003202	Skeletal muscle atrophy		HP:0040283		orphadata	ORPHA:98915
8292	COLQ	HP:0002421	Poor head control		HP:0040282		orphadata	ORPHA:98915
8292	COLQ	HP:0006251	Limited wrist extension		HP:0040284		orphadata	ORPHA:98915
8292	COLQ	HP:0000218	High palate		HP:0040283		orphadata	ORPHA:98915
8292	COLQ	HP:0001284	Areflexia		HP:0040283		orphadata	ORPHA:98915
8292	COLQ	HP:0001252	Muscular hypotonia		HP:0040282		orphadata	ORPHA:98915
8292	COLQ	HP:0003554	Type 2 muscle fiber atrophy		HP:0040284		orphadata	ORPHA:98915
8292	COLQ	HP:0030211	Slow pupillary light response		HP:0040283		orphadata	ORPHA:98915
8292	COLQ	HP:0002875	Exertional dyspnea		HP:0040284		orphadata	ORPHA:98915
8292	COLQ	HP:0002098	Respiratory distress		HP:0040282		orphadata	ORPHA:98915
8292	COLQ	HP:0012379	Abnormal enzyme/coenzyme activity		HP:0040282		orphadata	ORPHA:98915
8292	COLQ	HP:0002650	Scoliosis		HP:0040283		orphadata	ORPHA:98915
8292	COLQ	HP:0010628	Facial palsy		HP:0040282		orphadata	ORPHA:98915
8292	COLQ	HP:0002791	Hypoventilation		HP:0040283		orphadata	ORPHA:98915
8292	COLQ	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation		HP:0040281		orphadata	ORPHA:98915
8292	COLQ	HP:0003436	Prolonged miniature endplate currents		HP:0040282		orphadata	ORPHA:98915
8292	COLQ	HP:0001249	Intellectual disability		HP:0040283		orphadata	ORPHA:98915
8292	COLQ	HP:0002815	Abnormality of the knee		HP:0040283		orphadata	ORPHA:98915
8292	COLQ	HP:0000597	Ophthalmoparesis		HP:0040282		orphadata	ORPHA:98915
8292	COLQ	HP:0001488	Bilateral ptosis		HP:0040282		orphadata	ORPHA:98915
8292	COLQ	HP:0007941	Limited extraocular movements		HP:0040283		orphadata	ORPHA:98915
8292	COLQ	HP:0003327	Axial muscle weakness		HP:0040283		orphadata	ORPHA:98915
8292	COLQ	HP:0003198	Myopathy		HP:0040282		orphadata	ORPHA:98915
8292	COLQ	HP:0002033	Poor suck		HP:0040282		orphadata	ORPHA:98915
8292	COLQ	HP:0001667	Right ventricular hypertrophy		HP:0040284		orphadata	ORPHA:98915
8292	COLQ	HP:0002783	Recurrent lower respiratory tract infections		HP:0040283		orphadata	ORPHA:98915
8292	COLQ	HP:0002460	Distal muscle weakness		HP:0040282		orphadata	ORPHA:98915
8292	COLQ	HP:0000207	Triangular mouth		HP:0040284		orphadata	ORPHA:98915
8292	COLQ	HP:0003691	Scapular winging		HP:0040282		orphadata	ORPHA:98915
8292	COLQ	HP:0003388	Easy fatigability		HP:0040283		orphadata	ORPHA:98915
8292	COLQ	HP:0001263	Global developmental delay		HP:0040282		orphadata	ORPHA:98915
8292	COLQ	HP:0030237	Hand muscle weakness		HP:0040284		orphadata	ORPHA:98915
8292	COLQ	HP:0003803	Type 1 muscle fiber predominance		HP:0040283		orphadata	ORPHA:98915
8292	COLQ	HP:0000467	Neck muscle weakness		HP:0040282		orphadata	ORPHA:98915
8292	COLQ	HP:0001265	Hyporeflexia		HP:0040282		orphadata	ORPHA:98915
8292	COLQ	HP:0003701	Proximal muscle weakness		HP:0040281		orphadata	ORPHA:98915
8292	COLQ	HP:0003324	Generalized muscle weakness		HP:0040281		orphadata	ORPHA:98915
8292	COLQ	HP:0003324	Generalized muscle weakness			-	mim2gene	OMIM:603034
8292	COLQ	HP:0001290	Generalized hypotonia			-	mim2gene	OMIM:603034
8292	COLQ	HP:0002715	Abnormality of the immune system			-	mim2gene	OMIM:603034
8292	COLQ	HP:0003690	Limb muscle weakness			-	mim2gene	OMIM:603034
8292	COLQ	HP:0003199	Decreased muscle mass			-	mim2gene	OMIM:603034
8292	COLQ	HP:0001612	Weak cry			-	mim2gene	OMIM:603034
8292	COLQ	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:603034
8292	COLQ	HP:0003388	Easy fatigability			-	mim2gene	OMIM:603034
8292	COLQ	HP:0008872	Feeding difficulties in infancy			-	mim2gene	OMIM:603034
8292	COLQ	HP:0002747	Respiratory insufficiency due to muscle weakness			-	mim2gene	OMIM:603034
8292	COLQ	HP:0000597	Ophthalmoparesis			-	mim2gene	OMIM:603034
8292	COLQ	HP:0002093	Respiratory insufficiency			-	mim2gene	OMIM:603034
8292	COLQ	HP:0003198	Myopathy			-	mim2gene	OMIM:603034
8292	COLQ	HP:0001252	Muscular hypotonia			-	mim2gene	OMIM:603034
8292	COLQ	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation			-	mim2gene	OMIM:603034
8292	COLQ	HP:0003473	Fatigable weakness			-	mim2gene	OMIM:603034
8292	COLQ	HP:0003593	Infantile onset			-	mim2gene	OMIM:603034
8292	COLQ	HP:0000508	Ptosis			-	mim2gene	OMIM:603034
8292	COLQ	HP:0003554	Type 2 muscle fiber atrophy			-	mim2gene	OMIM:603034
8292	COLQ	HP:0008872	Feeding difficulties in infancy			-	mim2gene	OMIM:603034
8292	COLQ	HP:0003436	Prolonged miniature endplate currents			-	mim2gene	OMIM:603034
8292	COLQ	HP:0001260	Dysarthria			-	mim2gene	OMIM:603034
8292	COLQ	HP:0003443	Decreased size of nerve terminals			-	mim2gene	OMIM:603034
8292	COLQ	HP:0002650	Scoliosis			-	mim2gene	OMIM:603034
8292	COLQ	HP:0002015	Dysphagia			-	mim2gene	OMIM:603034
8292	COLQ	HP:0003307	Hyperlordosis			-	mim2gene	OMIM:603034
102	ADAM10	HP:0000962	Hyperkeratosis			-	mim2gene	OMIM:615537
102	ADAM10	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:615537
103	ADAR	HP:0004963	Calcification of the aorta		HP:0040284		orphadata	ORPHA:51
103	ADAR	HP:0001332	Dystonia		HP:0040282		orphadata	ORPHA:51
103	ADAR	HP:0100578	Lipoatrophy		HP:0040284		orphadata	ORPHA:51
103	ADAR	HP:0000625	Eyelid coloboma		HP:0040282		orphadata	ORPHA:51
103	ADAR	HP:0002910	Elevated hepatic transaminase		HP:0040282		orphadata	ORPHA:51
103	ADAR	HP:0002079	Hypoplasia of the corpus callosum		HP:0040282		orphadata	ORPHA:51
103	ADAR	HP:0001369	Arthritis		HP:0040283		orphadata	ORPHA:51
103	ADAR	HP:0002828	Multiple joint contractures		HP:0040283		orphadata	ORPHA:51
103	ADAR	HP:0001263	Global developmental delay		HP:0040281		orphadata	ORPHA:51
103	ADAR	HP:0007256	Abnormal pyramidal sign		HP:0040283		orphadata	ORPHA:51
103	ADAR	HP:0002514	Cerebral calcification		HP:0040282		orphadata	ORPHA:51
103	ADAR	HP:0012444	Brain atrophy		HP:0040282		orphadata	ORPHA:51
103	ADAR	HP:0001250	Seizures		HP:0040282		orphadata	ORPHA:51
103	ADAR	HP:0001640	Cardiomegaly		HP:0040283		orphadata	ORPHA:51
103	ADAR	HP:0001955	Unexplained fevers		HP:0040282		orphadata	ORPHA:51
103	ADAR	HP:0003552	Muscle stiffness		HP:0040283		orphadata	ORPHA:51
103	ADAR	HP:0002650	Scoliosis		HP:0040283		orphadata	ORPHA:51
103	ADAR	HP:0007076	Extrapyramidal muscular rigidity		HP:0040282		orphadata	ORPHA:51
103	ADAR	HP:0040140	Degeneration of the striatum		HP:0040284		orphadata	ORPHA:51
103	ADAR	HP:0030880	Raynaud phenomenon		HP:0040283		orphadata	ORPHA:51
103	ADAR	HP:0002510	Spastic tetraplegia		HP:0040283		orphadata	ORPHA:51
103	ADAR	HP:0002371	Loss of speech		HP:0040282		orphadata	ORPHA:51
103	ADAR	HP:0000508	Ptosis		HP:0040283		orphadata	ORPHA:51
103	ADAR	HP:0002315	Headache		HP:0040283		orphadata	ORPHA:51
103	ADAR	HP:0001609	Hoarse voice		HP:0040283		orphadata	ORPHA:51
103	ADAR	HP:0002376	Developmental regression		HP:0040282		orphadata	ORPHA:51
103	ADAR	HP:0009710	Chilblains		HP:0040282		orphadata	ORPHA:51
103	ADAR	HP:0006579	Prolonged neonatal jaundice		HP:0040283		orphadata	ORPHA:51
103	ADAR	HP:0002960	Autoimmunity		HP:0040282		orphadata	ORPHA:51
103	ADAR	HP:0000958	Dry skin		HP:0040282		orphadata	ORPHA:51
103	ADAR	HP:0012490	Panniculitis		HP:0040283		orphadata	ORPHA:51
103	ADAR	HP:0000639	Nystagmus		HP:0040283		orphadata	ORPHA:51
103	ADAR	HP:0000369	Low-set ears		HP:0040283		orphadata	ORPHA:51
103	ADAR	HP:0002119	Ventriculomegaly		HP:0040282		orphadata	ORPHA:51
103	ADAR	HP:0002132	Porencephalic cyst		HP:0040281		orphadata	ORPHA:51
103	ADAR	HP:0008936	Muscular hypotonia of the trunk		HP:0040282		orphadata	ORPHA:51
103	ADAR	HP:0000821	Hypothyroidism		HP:0040283		orphadata	ORPHA:51
103	ADAR	HP:0000819	Diabetes mellitus		HP:0040283		orphadata	ORPHA:51
103	ADAR	HP:0004809	Neonatal alloimmune thrombocytopenia		HP:0040283		orphadata	ORPHA:51
103	ADAR	HP:0002415	Leukodystrophy		HP:0040282		orphadata	ORPHA:51
103	ADAR	HP:0001063	Acrocyanosis		HP:0040283		orphadata	ORPHA:51
103	ADAR	HP:0009704	Chronic CSF lymphocytosis		HP:0040282		orphadata	ORPHA:51
103	ADAR	HP:0004374	Hemiplegia/hemiparesis		HP:0040282		orphadata	ORPHA:51
103	ADAR	HP:0000737	Irritability		HP:0040282		orphadata	ORPHA:51
103	ADAR	HP:0002187	Intellectual disability, profound		HP:0040281		orphadata	ORPHA:51
103	ADAR	HP:0030356	Increased serum interferon-gamma level		HP:0040282		orphadata	ORPHA:51
103	ADAR	HP:0005550	Chronic lymphatic leukemia		HP:0040284		orphadata	ORPHA:51
103	ADAR	HP:0000252	Microcephaly		HP:0040282		orphadata	ORPHA:51
103	ADAR	HP:0002313	Spastic paraparesis		HP:0040283		orphadata	ORPHA:51
103	ADAR	HP:0001433	Hepatosplenomegaly		HP:0040282		orphadata	ORPHA:51
103	ADAR	HP:0000054	Micropenis		HP:0040283		orphadata	ORPHA:51
103	ADAR	HP:0009709	Increased CSF interferon alpha		HP:0040282		orphadata	ORPHA:51
103	ADAR	HP:0011834	Moyamoya phenomenon		HP:0040284		orphadata	ORPHA:51
103	ADAR	HP:0100614	Myositis		HP:0040284		orphadata	ORPHA:51
103	ADAR	HP:0007052	Multifocal cerebral white matter abnormalities		HP:0040281		orphadata	ORPHA:51
103	ADAR	HP:0004942	Aortic aneurysm		HP:0040284		orphadata	ORPHA:51
103	ADAR	HP:0004322	Short stature		HP:0040282		orphadata	ORPHA:51
103	ADAR	HP:0001087	Developmental glaucoma		HP:0040283		orphadata	ORPHA:51
103	ADAR	HP:0030038	Enchondroma		HP:0040284		orphadata	ORPHA:51
103	ADAR	HP:0001357	Plagiocephaly		HP:0040283		orphadata	ORPHA:51
103	ADAR	HP:0003683	Large beaked nose		HP:0040282		orphadata	ORPHA:51
103	ADAR	HP:0000965	Cutis marmorata		HP:0040283		orphadata	ORPHA:51
103	ADAR	HP:0001639	Hypertrophic cardiomyopathy		HP:0040284		orphadata	ORPHA:51
103	ADAR	HP:0002139	Arrhinencephaly		HP:0040281		orphadata	ORPHA:51
103	ADAR	HP:0007108	Demyelinating peripheral neuropathy		HP:0040283		orphadata	ORPHA:51
103	ADAR	HP:0002355	Difficulty walking		HP:0040282		orphadata	ORPHA:51
103	ADAR	HP:0001337	Tremor		HP:0040283		orphadata	ORPHA:51
103	ADAR	HP:0001304	Torsion dystonia		HP:0040282		orphadata	ORPHA:41
103	ADAR	HP:0011509	Macular hyperpigmentation		HP:0040281		orphadata	ORPHA:41
103	ADAR	HP:0012733	Macule		HP:0040281		orphadata	ORPHA:41
103	ADAR	HP:0007988	Macular hypopigmentation		HP:0040281		orphadata	ORPHA:41
103	ADAR	HP:0002066	Gait ataxia		HP:0040282		orphadata	ORPHA:225154
103	ADAR	HP:0003487	Babinski sign		HP:0040282		orphadata	ORPHA:225154
103	ADAR	HP:0002376	Developmental regression		HP:0040282		orphadata	ORPHA:225154
103	ADAR	HP:0000750	Delayed speech and language development		HP:0040282		orphadata	ORPHA:225154
103	ADAR	HP:0001256	Intellectual disability, mild		HP:0040282		orphadata	ORPHA:225154
103	ADAR	HP:0006957	Loss of ability to walk		HP:0040283		orphadata	ORPHA:225154
103	ADAR	HP:0007811	Horizontal pendular nystagmus		HP:0040282		orphadata	ORPHA:225154
103	ADAR	HP:0002446	Astrocytosis		HP:0040283		orphadata	ORPHA:225154
103	ADAR	HP:0002273	Tetraparesis		HP:0040282		orphadata	ORPHA:225154
103	ADAR	HP:0006999	Basal ganglia gliosis		HP:0040282		orphadata	ORPHA:225154
103	ADAR	HP:0001336	Myoclonus		HP:0040283		orphadata	ORPHA:225154
103	ADAR	HP:0001260	Dysarthria		HP:0040282		orphadata	ORPHA:225154
103	ADAR	HP:0001285	Spastic tetraparesis		HP:0040282		orphadata	ORPHA:225154
103	ADAR	HP:0003484	Upper limb muscle weakness		HP:0040283		orphadata	ORPHA:225154
103	ADAR	HP:0007340	Lower limb muscle weakness		HP:0040283		orphadata	ORPHA:225154
103	ADAR	HP:0002396	Cogwheel rigidity		HP:0040283		orphadata	ORPHA:225154
103	ADAR	HP:0007374	Atrophy/Degeneration involving the caudate nucleus		HP:0040282		orphadata	ORPHA:225154
103	ADAR	HP:0001347	Hyperreflexia		HP:0040282		orphadata	ORPHA:225154
103	ADAR	HP:0008947	Infantile muscular hypotonia		HP:0040282		orphadata	ORPHA:225154
103	ADAR	HP:0001266	Choreoathetosis		HP:0040282		orphadata	ORPHA:225154
103	ADAR	HP:0001332	Dystonia		HP:0040282		orphadata	ORPHA:225154
103	ADAR	HP:0001508	Failure to thrive		HP:0040282		orphadata	ORPHA:225154
103	ADAR	HP:0002020	Gastroesophageal reflux		HP:0040283		orphadata	ORPHA:225154
103	ADAR	HP:0012697	Small basal ganglia		HP:0040283		orphadata	ORPHA:225154
103	ADAR	HP:0002359	Frequent falls		HP:0040283		orphadata	ORPHA:225154
103	ADAR	HP:0006799	Basal ganglia cysts		HP:0040283		orphadata	ORPHA:225154
103	ADAR	HP:0007688	Undetectable light- and dark-adapted electroretinogram		HP:0040283		orphadata	ORPHA:225154
103	ADAR	HP:0002015	Dysphagia		HP:0040282		orphadata	ORPHA:225154
103	ADAR	HP:0000648	Optic atrophy		HP:0040282		orphadata	ORPHA:225154
103	ADAR	HP:0002514	Cerebral calcification		HP:0040283	-	mim2gene	OMIM:615010
103	ADAR	HP:0001263	Global developmental delay			-	mim2gene	OMIM:615010
103	ADAR	HP:0000639	Nystagmus		HP:0040283	-	mim2gene	OMIM:615010
103	ADAR	HP:0002376	Developmental regression		HP:0040283	-	mim2gene	OMIM:615010
103	ADAR	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:615010
103	ADAR	HP:0001332	Dystonia			-	mim2gene	OMIM:615010
103	ADAR	HP:0001878	Hemolytic anemia		HP:0040283	-	mim2gene	OMIM:615010
103	ADAR	HP:0002063	Rigidity			-	mim2gene	OMIM:615010
103	ADAR	HP:0000252	Microcephaly		HP:0040283	-	mim2gene	OMIM:615010
103	ADAR	HP:0006957	Loss of ability to walk			-	mim2gene	OMIM:615010
103	ADAR	HP:0002371	Loss of speech			-	mim2gene	OMIM:615010
103	ADAR	HP:0001337	Tremor			-	mim2gene	OMIM:615010
103	ADAR	HP:0002415	Leukodystrophy		HP:0040283	-	mim2gene	OMIM:615010
103	ADAR	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:127400
103	ADAR	HP:0003593	Infantile onset			-	mim2gene	OMIM:127400
103	ADAR	HP:0007441	Hyperpigmented/hypopigmented macules			-	mim2gene	OMIM:127400
8295	TRRAP	HP:0410030	Cleft lip			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0000028	Cryptorchidism			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0001263	Global developmental delay			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0000126	Hydronephrosis			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0002120	Cerebral cortical atrophy			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0002164	Nail dysplasia			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0000722	Obsessive-compulsive behavior			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0001320	Cerebellar vermis hypoplasia			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0000322	Short philtrum			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0002558	Supernumerary nipple			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0000252	Microcephaly			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0005280	Depressed nasal bridge			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0001537	Umbilical hernia			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0007366	Atrophy/Degeneration affecting the brainstem			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0000426	Prominent nasal bridge			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0002079	Hypoplasia of the corpus callosum			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0000369	Low-set ears			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0000316	Hypertelorism			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0000319	Smooth philtrum			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0004209	Clinodactyly of the 5th finger			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0000490	Deeply set eye			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0011968	Feeding difficulties			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0001680	Coarctation of aorta			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0001344	Absent speech			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0000505	Visual impairment			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0000582	Upslanted palpebral fissure			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0000358	Posteriorly rotated ears			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0001655	Patent foramen ovale			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0001773	Short foot			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0001250	Seizures		HP:0040284	-	mim2gene	OMIM:618454
8295	TRRAP	HP:0000776	Congenital diaphragmatic hernia			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0002553	Highly arched eyebrow			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0000347	Micrognathia			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0000175	Cleft palate			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0000089	Renal hypoplasia			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0000463	Anteverted nares			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0001792	Small nail			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0002465	Poor speech			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0000107	Renal cyst			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0000414	Bulbous nose			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0011220	Prominent forehead			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0008755	Laryngotracheomalacia			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0012448	Delayed myelination			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0002126	Polymicrogyria			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0004322	Short stature			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0000023	Inguinal hernia			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0031936	Delayed ability to walk			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0000219	Thin upper lip vermilion			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0000154	Wide mouth			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0000365	Hearing impairment			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0000286	Epicanthus			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0001290	Generalized hypotonia			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0001643	Patent ductus arteriosus			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0000076	Vesicoureteral reflux			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0030260	Microphallus			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0003196	Short nose			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0000729	Autistic behavior			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0000046	Scrotal hypoplasia			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0000460	Narrow nose			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0000601	Hypotelorism			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0000431	Wide nasal bridge			-	mim2gene	OMIM:618454
8295	TRRAP	HP:0002650	Scoliosis			-	mim2gene	OMIM:618454
57449	PLEKHG5	HP:0001284	Areflexia			-	mim2gene	OMIM:611067
57449	PLEKHG5	HP:0003693	Distal amyotrophy			-	mim2gene	OMIM:611067
57449	PLEKHG5	HP:0002460	Distal muscle weakness			-	mim2gene	OMIM:611067
57449	PLEKHG5	HP:0003307	Hyperlordosis			-	mim2gene	OMIM:611067
57449	PLEKHG5	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:611067
57449	PLEKHG5	HP:0003445	EMG: neuropathic changes			-	mim2gene	OMIM:611067
57449	PLEKHG5	HP:0007269	Spinal muscular atrophy			-	mim2gene	OMIM:611067
57449	PLEKHG5	HP:0011463	Childhood onset			-	mim2gene	OMIM:611067
57449	PLEKHG5	HP:0003697	Scapuloperoneal amyotrophy			-	mim2gene	OMIM:611067
57449	PLEKHG5	HP:0009473	Joint contracture of the hand			-	mim2gene	OMIM:611067
57449	PLEKHG5	HP:0002366	Abnormal lower motor neuron morphology			-	mim2gene	OMIM:611067
57449	PLEKHG5	HP:0003678	Rapidly progressive			-	mim2gene	OMIM:611067
57449	PLEKHG5	HP:0002515	Waddling gait			-	mim2gene	OMIM:611067
57449	PLEKHG5	HP:0002355	Difficulty walking			-	mim2gene	OMIM:611067
57449	PLEKHG5	HP:0002747	Respiratory insufficiency due to muscle weakness			-	mim2gene	OMIM:611067
57449	PLEKHG5	HP:0003551	Difficulty climbing stairs			-	mim2gene	OMIM:611067
57449	PLEKHG5	HP:0003701	Proximal muscle weakness			-	mim2gene	OMIM:611067
57449	PLEKHG5	HP:0001762	Talipes equinovarus			-	mim2gene	OMIM:611067
57449	PLEKHG5	HP:0002650	Scoliosis			-	mim2gene	OMIM:611067
57449	PLEKHG5	HP:0008180	Mildly elevated creatine kinase			-	mim2gene	OMIM:615376
57449	PLEKHG5	HP:0001765	Hammertoe			-	mim2gene	OMIM:615376
57449	PLEKHG5	HP:0002936	Distal sensory impairment			-	mim2gene	OMIM:615376
57449	PLEKHG5	HP:0003387	Decreased number of large peripheral myelinated nerve fibers			-	mim2gene	OMIM:615376
57449	PLEKHG5	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:615376
57449	PLEKHG5	HP:0001284	Areflexia			-	mim2gene	OMIM:615376
57449	PLEKHG5	HP:0003431	Decreased motor nerve conduction velocity			-	mim2gene	OMIM:615376
57449	PLEKHG5	HP:0001761	Pes cavus			-	mim2gene	OMIM:615376
57449	PLEKHG5	HP:0002460	Distal muscle weakness			-	mim2gene	OMIM:615376
107	ADCY1	HP:0000007	Autosomal recessive inheritance			question	mim2gene	OMIM:610154
107	ADCY1	HP:0000399	Prelingual sensorineural hearing impairment			question	mim2gene	OMIM:610154
109	ADCY3	HP:0000855	Insulin resistance			susceptibility	mim2gene	OMIM:617885
109	ADCY3	HP:0003077	Hyperlipidemia			susceptibility	mim2gene	OMIM:617885
109	ADCY3	HP:0000458	Anosmia			susceptibility	mim2gene	OMIM:617885
109	ADCY3	HP:0001513	Obesity			susceptibility	mim2gene	OMIM:617885
109	ADCY3	HP:0004409	Hyposmia			susceptibility	mim2gene	OMIM:617885
109	ADCY3	HP:0000007	Autosomal recessive inheritance			susceptibility	mim2gene	OMIM:617885
109	ADCY3	HP:0001249	Intellectual disability		HP:0040284	susceptibility	mim2gene	OMIM:617885
8301	PICALM	HP:0004808	Acute myeloid leukemia			-	mim2gene	OMIM:601626
8301	PICALM	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:601626
8301	PICALM	HP:0001428	Somatic mutation			-	mim2gene	OMIM:601626
8302	KLRC4	HP:0001251	Ataxia		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0000083	Renal insufficiency		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0001824	Weight loss		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0002633	Vasculitis		HP:0040281		orphadata	ORPHA:117
8302	KLRC4	HP:0002076	Migraine		HP:0040281		orphadata	ORPHA:117
8302	KLRC4	HP:0001269	Hemiparesis		HP:0040282		orphadata	ORPHA:117
8302	KLRC4	HP:0002105	Hemoptysis		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0000518	Cataract		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0002516	Increased intracranial pressure		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0100654	Retrobulbar optic neuritis		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0007256	Abnormal pyramidal sign		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0002321	Vertigo		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0002202	Pleural effusion		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0001701	Pericarditis		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0002027	Abdominal pain		HP:0040282		orphadata	ORPHA:117
8302	KLRC4	HP:0100584	Endocarditis		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0002239	Gastrointestinal hemorrhage		HP:0040282		orphadata	ORPHA:117
8302	KLRC4	HP:0002102	Pleuritis		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0001347	Hyperreflexia		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0000613	Photophobia		HP:0040281		orphadata	ORPHA:117
8302	KLRC4	HP:0100820	Glomerulopathy		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0001287	Meningitis		HP:0040281		orphadata	ORPHA:117
8302	KLRC4	HP:0011107	Recurrent aphthous stomatitis		HP:0040281		orphadata	ORPHA:117
8302	KLRC4	HP:0001744	Splenomegaly		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0001369	Arthritis		HP:0040281		orphadata	ORPHA:117
8302	KLRC4	HP:0001659	Aortic regurgitation		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0006824	Cranial nerve paralysis		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0000618	Blindness		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0001289	Confusion		HP:0040282		orphadata	ORPHA:117
8302	KLRC4	HP:0002383	Encephalitis		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0001658	Myocardial infarction		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0002376	Developmental regression		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0001097	Keratoconjunctivitis sicca		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0002637	Cerebral ischemia		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0001653	Mitral regurgitation		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0003401	Paresthesia		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0001061	Acne		HP:0040282		orphadata	ORPHA:117
8302	KLRC4	HP:0001482	Subcutaneous nodule		HP:0040281		orphadata	ORPHA:117
8302	KLRC4	HP:0012378	Fatigue		HP:0040281		orphadata	ORPHA:117
8302	KLRC4	HP:0100614	Myositis		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0001733	Pancreatitis		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0000488	Retinopathy		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0002354	Memory impairment		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0002113	Pulmonary infiltrates		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0001637	Abnormal myocardium morphology		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0100326	Immunologic hypersensitivity		HP:0040282		orphadata	ORPHA:117
8302	KLRC4	HP:0002017	Nausea and vomiting		HP:0040281		orphadata	ORPHA:117
8302	KLRC4	HP:0004420	Arterial thrombosis		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0001945	Fever		HP:0040281		orphadata	ORPHA:117
8302	KLRC4	HP:0001250	Seizures		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0002039	Anorexia		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0100758	Gangrene		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0200034	Papule		HP:0040281		orphadata	ORPHA:117
8302	KLRC4	HP:0002716	Lymphadenopathy		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0000155	Oral ulcer		HP:0040281		orphadata	ORPHA:117
8302	KLRC4	HP:0002204	Pulmonary embolism		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0001288	Gait disturbance		HP:0040282		orphadata	ORPHA:117
8302	KLRC4	HP:0010885	Avascular necrosis		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0004936	Venous thrombosis		HP:0040282		orphadata	ORPHA:117
8302	KLRC4	HP:0002024	Malabsorption		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0100796	Orchitis		HP:0040281		orphadata	ORPHA:117
8302	KLRC4	HP:0000737	Irritability		HP:0040283		orphadata	ORPHA:117
8302	KLRC4	HP:0003326	Myalgia		HP:0040281		orphadata	ORPHA:117
8302	KLRC4	HP:0008066	Abnormal blistering of the skin		HP:0040282		orphadata	ORPHA:117
8302	KLRC4	HP:0002829	Arthralgia		HP:0040282		orphadata	ORPHA:117
111	ADCY5	HP:0002322	Resting tremor		HP:0040282		orphadata	ORPHA:324588
111	ADCY5	HP:0002310	Orofacial dyskinesia		HP:0040281		orphadata	ORPHA:324588
111	ADCY5	HP:0001635	Congestive heart failure		HP:0040283		orphadata	ORPHA:324588
111	ADCY5	HP:0001260	Dysarthria		HP:0040282		orphadata	ORPHA:324588
111	ADCY5	HP:0008936	Muscular hypotonia of the trunk		HP:0040282		orphadata	ORPHA:324588
111	ADCY5	HP:0000317	Facial myokymia		HP:0040281		orphadata	ORPHA:324588
111	ADCY5	HP:0001336	Myoclonus		HP:0040282		orphadata	ORPHA:324588
111	ADCY5	HP:0002194	Delayed gross motor development		HP:0040283		orphadata	ORPHA:324588
111	ADCY5	HP:0001644	Dilated cardiomyopathy		HP:0040283		orphadata	ORPHA:324588
111	ADCY5	HP:0002355	Difficulty walking		HP:0040282		orphadata	ORPHA:324588
111	ADCY5	HP:0002509	Limb hypertonia		HP:0040282		orphadata	ORPHA:324588
111	ADCY5	HP:0002072	Chorea		HP:0040282		orphadata	ORPHA:324588
111	ADCY5	HP:0001332	Dystonia		HP:0040282		orphadata	ORPHA:324588
111	ADCY5	HP:0001347	Hyperreflexia		HP:0040283		orphadata	ORPHA:324588
111	ADCY5	HP:0001270	Motor delay		HP:0040283	-	mim2gene	OMIM:606703
111	ADCY5	HP:0000317	Facial myokymia			-	mim2gene	OMIM:606703
111	ADCY5	HP:0001644	Dilated cardiomyopathy		HP:0040283	-	mim2gene	OMIM:606703
111	ADCY5	HP:0000739	Anxiety			-	mim2gene	OMIM:606703
111	ADCY5	HP:0001260	Dysarthria			-	mim2gene	OMIM:606703
111	ADCY5	HP:0001635	Congestive heart failure		HP:0040283	-	mim2gene	OMIM:606703
111	ADCY5	HP:0003621	Juvenile onset			-	mim2gene	OMIM:606703
111	ADCY5	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:606703
111	ADCY5	HP:0002322	Resting tremor		HP:0040283	-	mim2gene	OMIM:606703
111	ADCY5	HP:0008936	Muscular hypotonia of the trunk		HP:0040283	-	mim2gene	OMIM:606703
111	ADCY5	HP:0001332	Dystonia			-	mim2gene	OMIM:606703
111	ADCY5	HP:0001347	Hyperreflexia		HP:0040283	-	mim2gene	OMIM:606703
111	ADCY5	HP:0002509	Limb hypertonia			-	mim2gene	OMIM:606703
111	ADCY5	HP:0002072	Chorea			-	mim2gene	OMIM:606703
111	ADCY5	HP:0100660	Dyskinesia			-	mim2gene	OMIM:606703
111	ADCY5	HP:0001288	Gait disturbance		HP:0040281		orphadata	ORPHA:1429
114798	SLITRK1	HP:0012167	Hair-pulling			question	mim2gene	OMIM:613229
114798	SLITRK1	HP:0001596	Alopecia			question	mim2gene	OMIM:613229
114798	SLITRK1	HP:0000722	Obsessive-compulsive behavior			question	mim2gene	OMIM:613229
114798	SLITRK1	HP:0000006	Autosomal dominant inheritance			question	mim2gene	OMIM:613229
114798	SLITRK1	HP:0001426	Multifactorial inheritance			question	mim2gene	OMIM:613229
114798	SLITRK1	HP:0000718	Aggressive behavior			-	mim2gene	OMIM:137580
114798	SLITRK1	HP:0000722	Obsessive-compulsive behavior			-	mim2gene	OMIM:137580
114798	SLITRK1	HP:0007018	Attention deficit hyperactivity disorder			-	mim2gene	OMIM:137580
114798	SLITRK1	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:137580
114798	SLITRK1	HP:0100034	Motor tics			-	mim2gene	OMIM:137580
114798	SLITRK1	HP:0002360	Sleep disturbance			-	mim2gene	OMIM:137580
114798	SLITRK1	HP:0100035	Phonic tics			-	mim2gene	OMIM:137580
114798	SLITRK1	HP:0000742	Self-mutilation			-	mim2gene	OMIM:137580
114798	SLITRK1	HP:0010529	Echolalia			-	mim2gene	OMIM:137580
112	ADCY6	HP:0001284	Areflexia			question	mim2gene	OMIM:616287
112	ADCY6	HP:0002804	Arthrogryposis multiplex congenita			question	mim2gene	OMIM:616287
112	ADCY6	HP:0001290	Generalized hypotonia			question	mim2gene	OMIM:616287
112	ADCY6	HP:0001349	Facial diplegia			question	mim2gene	OMIM:616287
112	ADCY6	HP:0200136	Oral-pharyngeal dysphagia			question	mim2gene	OMIM:616287
112	ADCY6	HP:0000007	Autosomal recessive inheritance			question	mim2gene	OMIM:616287
112	ADCY6	HP:0002098	Respiratory distress		HP:0040281		orphadata	ORPHA:2680
112	ADCY6	HP:0001252	Muscular hypotonia		HP:0040281		orphadata	ORPHA:2680
112	ADCY6	HP:0001376	Limitation of joint mobility		HP:0040281		orphadata	ORPHA:2680
112	ADCY6	HP:0003457	EMG abnormality		HP:0040281		orphadata	ORPHA:2680
112	ADCY6	HP:0001315	Reduced tendon reflexes		HP:0040281		orphadata	ORPHA:2680
254065	BRWD3	HP:0001419	X-linked recessive inheritance			-	mim2gene	OMIM:300659
254065	BRWD3	HP:0001256	Intellectual disability, mild			-	mim2gene	OMIM:300659
254065	BRWD3	HP:0000028	Cryptorchidism			-	mim2gene	OMIM:300659
254065	BRWD3	HP:0000378	Cupped ear			-	mim2gene	OMIM:300659
254065	BRWD3	HP:0001290	Generalized hypotonia			-	mim2gene	OMIM:300659
254065	BRWD3	HP:0001763	Pes planus			-	mim2gene	OMIM:300659
254065	BRWD3	HP:0011220	Prominent forehead			-	mim2gene	OMIM:300659
254065	BRWD3	HP:0001252	Muscular hypotonia			-	mim2gene	OMIM:300659
254065	BRWD3	HP:0002007	Frontal bossing			-	mim2gene	OMIM:300659
254065	BRWD3	HP:0000256	Macrocephaly			-	mim2gene	OMIM:300659
254065	BRWD3	HP:0000276	Long face			-	mim2gene	OMIM:300659
254065	BRWD3	HP:0000750	Delayed speech and language development			-	mim2gene	OMIM:300659
254065	BRWD3	HP:0000400	Macrotia			-	mim2gene	OMIM:300659
114803	MYSM1	HP:0004313	Decreased antibody level in blood			-	mim2gene	OMIM:618116
114803	MYSM1	HP:0001263	Global developmental delay		HP:0040284	-	mim2gene	OMIM:618116
114803	MYSM1	HP:0001903	Anemia			-	mim2gene	OMIM:618116
114803	MYSM1	HP:0008905	Rhizomelia			-	mim2gene	OMIM:618116
114803	MYSM1	HP:0000252	Microcephaly		HP:0040284	-	mim2gene	OMIM:618116
114803	MYSM1	HP:0002205	Recurrent respiratory infections			-	mim2gene	OMIM:618116
114803	MYSM1	HP:0000369	Low-set ears			-	mim2gene	OMIM:618116
114803	MYSM1	HP:0001882	Leukopenia			-	mim2gene	OMIM:618116
114803	MYSM1	HP:0001999	Abnormal facial shape		HP:0040284	-	mim2gene	OMIM:618116
114803	MYSM1	HP:0003577	Congenital onset			-	mim2gene	OMIM:618116
114803	MYSM1	HP:0001873	Thrombocytopenia		HP:0040284	-	mim2gene	OMIM:618116
114803	MYSM1	HP:0005528	Bone marrow hypocellularity			-	mim2gene	OMIM:618116
114803	MYSM1	HP:0000964	Eczema			-	mim2gene	OMIM:618116
114803	MYSM1	HP:0000958	Dry skin			-	mim2gene	OMIM:618116
114803	MYSM1	HP:0011800	Midface retrusion			-	mim2gene	OMIM:618116
114803	MYSM1	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:618116
57459	GATAD2B	HP:0000748	Inappropriate laughter			-	mim2gene	OMIM:615074
57459	GATAD2B	HP:0000431	Wide nasal bridge			-	mim2gene	OMIM:615074
57459	GATAD2B	HP:0001319	Neonatal hypotonia			-	mim2gene	OMIM:615074
57459	GATAD2B	HP:0000337	Broad forehead			-	mim2gene	OMIM:615074
57459	GATAD2B	HP:0000752	Hyperactivity		HP:0040283	-	mim2gene	OMIM:615074
57459	GATAD2B	HP:0000154	Wide mouth			-	mim2gene	OMIM:615074
57459	GATAD2B	HP:0002463	Language impairment	4/4		-	mim2gene	OMIM:615074
57459	GATAD2B	HP:0010511	Long toe			-	mim2gene	OMIM:615074
57459	GATAD2B	HP:0000219	Thin upper lip vermilion			-	mim2gene	OMIM:615074
57459	GATAD2B	HP:0000486	Strabismus	4/4		-	mim2gene	OMIM:615074
57459	GATAD2B	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:615074
57459	GATAD2B	HP:0100807	Long fingers			-	mim2gene	OMIM:615074
57459	GATAD2B	HP:0100033	Tics		HP:0040283	-	mim2gene	OMIM:615074
57459	GATAD2B	HP:0045025	Narrow palpebral fissure			-	mim2gene	OMIM:615074
57459	GATAD2B	HP:0000490	Deeply set eye			-	mim2gene	OMIM:615074
57459	GATAD2B	HP:0010864	Intellectual disability, severe	4/4		-	mim2gene	OMIM:615074
57459	GATAD2B	HP:0001263	Global developmental delay	4/4		-	mim2gene	OMIM:615074
57459	GATAD2B	HP:0000455	Broad nasal tip	4/4		-	mim2gene	OMIM:615074
57459	GATAD2B	HP:0000581	Blepharophimosis			-	mim2gene	OMIM:615074
57459	GATAD2B	HP:0003593	Infantile onset			-	mim2gene	OMIM:615074
57459	GATAD2B	HP:0008070	Sparse hair	4/4		-	mim2gene	OMIM:615074
57459	GATAD2B	HP:0000322	Short philtrum	4/4		-	mim2gene	OMIM:615074
57459	GATAD2B	HP:0000540	Hypermetropia			-	mim2gene	OMIM:615074
57459	GATAD2B	HP:0000316	Hypertelorism			-	mim2gene	OMIM:615074
57459	GATAD2B	HP:0002465	Poor speech			-	mim2gene	OMIM:615074
57459	GATAD2B	HP:0002465	Poor speech		HP:0040282		orphadata	ORPHA:363686
57459	GATAD2B	HP:0002546	Incomprehensible speech		HP:0040283		orphadata	ORPHA:363686
57459	GATAD2B	HP:0012450	Chronic constipation		HP:0040283		orphadata	ORPHA:363686
57459	GATAD2B	HP:0000629	Periorbital fullness		HP:0040283		orphadata	ORPHA:363686
57459	GATAD2B	HP:0045025	Narrow palpebral fissure		HP:0040283		orphadata	ORPHA:363686
57459	GATAD2B	HP:0010511	Long toe		HP:0040283		orphadata	ORPHA:363686
57459	GATAD2B	HP:0012448	Delayed myelination		HP:0040282		orphadata	ORPHA:363686
57459	GATAD2B	HP:0000316	Hypertelorism		HP:0040283		orphadata	ORPHA:363686
57459	GATAD2B	HP:0000484	Hyperopic astigmatism		HP:0040282		orphadata	ORPHA:363686
57459	GATAD2B	HP:0000490	Deeply set eye		HP:0040283		orphadata	ORPHA:363686
57459	GATAD2B	HP:0000455	Broad nasal tip		HP:0040282		orphadata	ORPHA:363686
57459	GATAD2B	HP:0001263	Global developmental delay		HP:0040282		orphadata	ORPHA:363686
57459	GATAD2B	HP:0000742	Self-mutilation		HP:0040283		orphadata	ORPHA:363686
57459	GATAD2B	HP:0002121	Absence seizure		HP:0040282		orphadata	ORPHA:363686
57459	GATAD2B	HP:0001566	Widely-spaced maxillary central incisors		HP:0040283		orphadata	ORPHA:363686
57459	GATAD2B	HP:0000347	Micrognathia		HP:0040283		orphadata	ORPHA:363686
57459	GATAD2B	HP:0000744	Low frustration tolerance		HP:0040283		orphadata	ORPHA:363686
57459	GATAD2B	HP:0010864	Intellectual disability, severe		HP:0040282		orphadata	ORPHA:363686
57459	GATAD2B	HP:0008770	Obsessive-compulsive trait		HP:0040283		orphadata	ORPHA:363686
57459	GATAD2B	HP:0000286	Epicanthus		HP:0040283		orphadata	ORPHA:363686
57459	GATAD2B	HP:0000218	High palate		HP:0040283		orphadata	ORPHA:363686
57459	GATAD2B	HP:0000337	Broad forehead		HP:0040282		orphadata	ORPHA:363686
57459	GATAD2B	HP:0000219	Thin upper lip vermilion		HP:0040282		orphadata	ORPHA:363686
57459	GATAD2B	HP:0005280	Depressed nasal bridge		HP:0040283		orphadata	ORPHA:363686
57459	GATAD2B	HP:0100033	Tics		HP:0040283		orphadata	ORPHA:363686
57459	GATAD2B	HP:0009836	Broad distal phalanx of finger		HP:0040283		orphadata	ORPHA:363686
57459	GATAD2B	HP:0000273	Facial grimacing		HP:0040282		orphadata	ORPHA:363686
57459	GATAD2B	HP:0000154	Wide mouth		HP:0040282		orphadata	ORPHA:363686
57459	GATAD2B	HP:0000729	Autistic behavior		HP:0040283		orphadata	ORPHA:363686
57459	GATAD2B	HP:0001388	Joint laxity		HP:0040283		orphadata	ORPHA:363686
57459	GATAD2B	HP:0002500	Abnormality of the cerebral white matter		HP:0040282		orphadata	ORPHA:363686
57459	GATAD2B	HP:0001511	Intrauterine growth retardation		HP:0040283		orphadata	ORPHA:363686
57459	GATAD2B	HP:0100807	Long fingers		HP:0040282		orphadata	ORPHA:363686
57459	GATAD2B	HP:0000047	Hypospadias		HP:0040283		orphadata	ORPHA:363686
57459	GATAD2B	HP:0000609	Optic nerve hypoplasia		HP:0040283		orphadata	ORPHA:363686
57459	GATAD2B	HP:0002061	Lower limb spasticity		HP:0040283		orphadata	ORPHA:363686
57459	GATAD2B	HP:0000486	Strabismus		HP:0040282		orphadata	ORPHA:363686
57459	GATAD2B	HP:0000748	Inappropriate laughter		HP:0040283		orphadata	ORPHA:363686
57459	GATAD2B	HP:0002213	Fine hair		HP:0040282		orphadata	ORPHA:363686
57459	GATAD2B	HP:0011968	Feeding difficulties		HP:0040283		orphadata	ORPHA:363686
57459	GATAD2B	HP:0000752	Hyperactivity		HP:0040282		orphadata	ORPHA:363686
57459	GATAD2B	HP:0008947	Infantile muscular hypotonia		HP:0040282		orphadata	ORPHA:363686
57459	GATAD2B	HP:0000582	Upslanted palpebral fissure		HP:0040283		orphadata	ORPHA:363686
57459	GATAD2B	HP:0000637	Long palpebral fissure		HP:0040283		orphadata	ORPHA:363686
57459	GATAD2B	HP:0002007	Frontal bossing		HP:0040283		orphadata	ORPHA:363686
57459	GATAD2B	HP:0000322	Short philtrum		HP:0040282		orphadata	ORPHA:363686
57459	GATAD2B	HP:0002360	Sleep disturbance		HP:0040283		orphadata	ORPHA:363686
8309	ACOX2	HP:0000511	Vertical supranuclear gaze palsy			-	mim2gene	OMIM:617308
8309	ACOX2	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:617308
8309	ACOX2	HP:0100512	Low levels of vitamin D			-	mim2gene	OMIM:617308
8309	ACOX2	HP:0000750	Delayed speech and language development			-	mim2gene	OMIM:617308
8309	ACOX2	HP:0003593	Infantile onset			-	mim2gene	OMIM:617308
8309	ACOX2	HP:0045014	Hypolipidemia			-	mim2gene	OMIM:617308
8309	ACOX2	HP:0001350	Slurred speech			-	mim2gene	OMIM:617308
8309	ACOX2	HP:0001310	Dysmetria			-	mim2gene	OMIM:617308
8309	ACOX2	HP:0001256	Intellectual disability, mild			-	mim2gene	OMIM:617308
8309	ACOX2	HP:0001263	Global developmental delay			-	mim2gene	OMIM:617308
8309	ACOX2	HP:0002570	Steatorrhea			-	mim2gene	OMIM:617308
57462	MYORG	HP:0001317	Abnormal cerebellum morphology			-	mim2gene	OMIM:618317
57462	MYORG	HP:0003581	Adult onset			-	mim2gene	OMIM:618317
57462	MYORG	HP:0002354	Memory impairment			-	mim2gene	OMIM:618317
57462	MYORG	HP:0000709	Psychosis		HP:0040284	-	mim2gene	OMIM:618317
57462	MYORG	HP:0001260	Dysarthria			-	mim2gene	OMIM:618317
57462	MYORG	HP:0001268	Mental deterioration			-	mim2gene	OMIM:618317
57462	MYORG	HP:0001347	Hyperreflexia			-	mim2gene	OMIM:618317
57462	MYORG	HP:0003676	Progressive			-	mim2gene	OMIM:618317
57462	MYORG	HP:0007256	Abnormal pyramidal sign			-	mim2gene	OMIM:618317
57462	MYORG	HP:0000571	Hypometric saccades			-	mim2gene	OMIM:618317
57462	MYORG	HP:0002076	Migraine			-	mim2gene	OMIM:618317
57462	MYORG	HP:0001332	Dystonia			-	mim2gene	OMIM:618317
57462	MYORG	HP:0002015	Dysphagia			-	mim2gene	OMIM:618317
57462	MYORG	HP:0001310	Dysmetria			-	mim2gene	OMIM:618317
57462	MYORG	HP:0001300	Parkinsonism			-	mim2gene	OMIM:618317
57462	MYORG	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:618317
57462	MYORG	HP:0002067	Bradykinesia			-	mim2gene	OMIM:618317
57462	MYORG	HP:0002072	Chorea			-	mim2gene	OMIM:618317
57462	MYORG	HP:0001250	Seizures		HP:0040281		orphadata	ORPHA:1980
57462	MYORG	HP:0001511	Intrauterine growth retardation		HP:0040281		orphadata	ORPHA:1980
57462	MYORG	HP:0001873	Thrombocytopenia		HP:0040281		orphadata	ORPHA:1980
57462	MYORG	HP:0007957	Corneal opacity		HP:0040282		orphadata	ORPHA:1980
57462	MYORG	HP:0002514	Cerebral calcification		HP:0040281		orphadata	ORPHA:1980
57462	MYORG	HP:0002119	Ventriculomegaly		HP:0040281		orphadata	ORPHA:1980
57462	MYORG	HP:0002240	Hepatomegaly		HP:0040281		orphadata	ORPHA:1980
57462	MYORG	HP:0002269	Abnormality of neuronal migration		HP:0040281		orphadata	ORPHA:1980
57462	MYORG	HP:0000252	Microcephaly		HP:0040281		orphadata	ORPHA:1980
57462	MYORG	HP:0001933	Subcutaneous hemorrhage		HP:0040281		orphadata	ORPHA:1980
118	ADD1	HP:0001426	Multifactorial inheritance			susceptibility	mim2gene	OMIM:145500
118	ADD1	HP:0005117	Elevated diastolic blood pressure			susceptibility	mim2gene	OMIM:145500
118	ADD1	HP:0004972	Elevated mean arterial pressure			susceptibility	mim2gene	OMIM:145500
118	ADD1	HP:0004421	Elevated systolic blood pressure			susceptibility	mim2gene	OMIM:145500
120	ADD3	HP:0002282	Gray matter heterotopia		HP:0040283	-	mim2gene	OMIM:617008
120	ADD3	HP:0001264	Spastic diplegia			-	mim2gene	OMIM:617008
120	ADD3	HP:0000577	Exotropia			-	mim2gene	OMIM:617008
120	ADD3	HP:0001263	Global developmental delay			-	mim2gene	OMIM:617008
120	ADD3	HP:0000605	Supranuclear gaze palsy			-	mim2gene	OMIM:617008
120	ADD3	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:617008
120	ADD3	HP:0002015	Dysphagia			-	mim2gene	OMIM:617008
120	ADD3	HP:0000639	Nystagmus			-	mim2gene	OMIM:617008
120	ADD3	HP:0001250	Seizures		HP:0040283	-	mim2gene	OMIM:617008
120	ADD3	HP:0002510	Spastic tetraplegia			-	mim2gene	OMIM:617008
120	ADD3	HP:0003593	Infantile onset			-	mim2gene	OMIM:617008
120	ADD3	HP:0002465	Poor speech			-	mim2gene	OMIM:617008
120	ADD3	HP:0003828	Variable expressivity			-	mim2gene	OMIM:617008
120	ADD3	HP:0000252	Microcephaly			-	mim2gene	OMIM:617008
120	ADD3	HP:0100543	Cognitive impairment			-	mim2gene	OMIM:617008
120	ADD3	HP:0007256	Abnormal pyramidal sign			-	mim2gene	OMIM:617008
8312	AXIN1	HP:0001428	Somatic mutation			-	mim2gene	OMIM:114550
8312	AXIN1	HP:0006572	Subacute progressive viral hepatitis			-	mim2gene	OMIM:114550
8312	AXIN1	HP:0001402	Hepatocellular carcinoma			-	mim2gene	OMIM:114550
8312	AXIN1	HP:0001413	Micronodular cirrhosis			-	mim2gene	OMIM:114550
8312	AXIN1	HP:0001425	Heterogeneous			-	mim2gene	OMIM:114550
8312	AXIN1	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:114550
8312	AXIN1	HP:0003762	Uterus didelphys			question	mim2gene	OMIM:607864
8312	AXIN1	HP:0000073	Ureteral duplication			question	mim2gene	OMIM:607864
57465	TBC1D24	HP:0001337	Tremor			-	mim2gene	OMIM:608105
57465	TBC1D24	HP:0002356	Writer's cramp			-	mim2gene	OMIM:608105
57465	TBC1D24	HP:0001260	Dysarthria			-	mim2gene	OMIM:608105
57465	TBC1D24	HP:0001336	Myoclonus			-	mim2gene	OMIM:608105
57465	TBC1D24	HP:0003593	Infantile onset			-	mim2gene	OMIM:608105
57465	TBC1D24	HP:0007104	Prolonged somatosensory evoked potentials			-	mim2gene	OMIM:608105
57465	TBC1D24	HP:0007332	Hemifacial seizures			-	mim2gene	OMIM:608105
57465	TBC1D24	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:608105
57465	TBC1D24	HP:0000666	Horizontal nystagmus			-	mim2gene	OMIM:608105
57465	TBC1D24	HP:0002268	Paroxysmal dystonia			-	mim2gene	OMIM:608105
57465	TBC1D24	HP:0011295	EEG with parietal sharp waves		HP:0040282		orphadata	ORPHA:163727
57465	TBC1D24	HP:0012012	EEG with parietal focal spike waves		HP:0040282		orphadata	ORPHA:163727
57465	TBC1D24	HP:0002268	Paroxysmal dystonia		HP:0040282		orphadata	ORPHA:163727
57465	TBC1D24	HP:0007332	Hemifacial seizures		HP:0040282		orphadata	ORPHA:163727
57465	TBC1D24	HP:0000666	Horizontal nystagmus		HP:0040282		orphadata	ORPHA:163727
57465	TBC1D24	HP:0002356	Writer's cramp		HP:0040282		orphadata	ORPHA:163727
57465	TBC1D24	HP:0007104	Prolonged somatosensory evoked potentials		HP:0040282		orphadata	ORPHA:163727
57465	TBC1D24	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:614617
57465	TBC1D24	HP:0000365	Hearing impairment			-	mim2gene	OMIM:614617
57465	TBC1D24	HP:0002071	Abnormality of extrapyramidal motor function			-	mim2gene	OMIM:615338
57465	TBC1D24	HP:0001263	Global developmental delay			-	mim2gene	OMIM:615338
57465	TBC1D24	HP:0000648	Optic atrophy		HP:0040283	-	mim2gene	OMIM:615338
57465	TBC1D24	HP:0002376	Developmental regression			-	mim2gene	OMIM:615338
57465	TBC1D24	HP:0005484	Postnatal microcephaly			-	mim2gene	OMIM:615338
57465	TBC1D24	HP:0025356	Psychomotor retardation			-	mim2gene	OMIM:615338
57465	TBC1D24	HP:0001336	Myoclonus			-	mim2gene	OMIM:615338
57465	TBC1D24	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:615338
57465	TBC1D24	HP:0012448	Delayed myelination			-	mim2gene	OMIM:615338
57465	TBC1D24	HP:0000572	Visual loss			-	mim2gene	OMIM:615338
57465	TBC1D24	HP:0001269	Hemiparesis			-	mim2gene	OMIM:615338
57465	TBC1D24	HP:0001290	Generalized hypotonia			-	mim2gene	OMIM:615338
57465	TBC1D24	HP:0002059	Cerebral atrophy			-	mim2gene	OMIM:615338
57465	TBC1D24	HP:0001332	Dystonia			-	mim2gene	OMIM:615338
57465	TBC1D24	HP:0006829	Severe muscular hypotonia			-	mim2gene	OMIM:615338
57465	TBC1D24	HP:0002133	Status epilepticus			-	mim2gene	OMIM:615338
57465	TBC1D24	HP:0003676	Progressive			-	mim2gene	OMIM:615338
57465	TBC1D24	HP:0200134	Epileptic encephalopathy			-	mim2gene	OMIM:615338
57465	TBC1D24	HP:0003828	Variable expressivity			-	mim2gene	OMIM:605021
57465	TBC1D24	HP:0002123	Generalized myoclonic seizures			-	mim2gene	OMIM:605021
57465	TBC1D24	HP:0002373	Febrile seizures			-	mim2gene	OMIM:605021
57465	TBC1D24	HP:0002069	Generalized tonic-clonic seizures			-	mim2gene	OMIM:605021
57465	TBC1D24	HP:0007359	Focal-onset seizure			-	mim2gene	OMIM:605021
57465	TBC1D24	HP:0001260	Dysarthria			-	mim2gene	OMIM:605021
57465	TBC1D24	HP:0003593	Infantile onset			-	mim2gene	OMIM:605021
57465	TBC1D24	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:605021
57465	TBC1D24	HP:0002373	Febrile seizures			-	mim2gene	OMIM:605021
57465	TBC1D24	HP:0003677	Slow progression			-	mim2gene	OMIM:616044
57465	TBC1D24	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:616044
57465	TBC1D24	HP:0001730	Progressive hearing impairment			-	mim2gene	OMIM:616044
57465	TBC1D24	HP:0001268	Mental deterioration		HP:0040282		orphadata	ORPHA:352582
57465	TBC1D24	HP:0000718	Aggressive behavior		HP:0040282		orphadata	ORPHA:352582
57465	TBC1D24	HP:0001326	EEG with irregular generalized spike and wave complexes		HP:0040281		orphadata	ORPHA:352582
57465	TBC1D24	HP:0002376	Developmental regression		HP:0040282		orphadata	ORPHA:352582
57465	TBC1D24	HP:0000737	Irritability		HP:0040282		orphadata	ORPHA:352582
57465	TBC1D24	HP:0001260	Dysarthria		HP:0040283		orphadata	ORPHA:352582
57465	TBC1D24	HP:0001112	Leber optic atrophy		HP:0040283		orphadata	ORPHA:352582
57465	TBC1D24	HP:0002123	Generalized myoclonic seizures		HP:0040281		orphadata	ORPHA:352582
57465	TBC1D24	HP:0002373	Febrile seizures		HP:0040283		orphadata	ORPHA:352582
57465	TBC1D24	HP:0002463	Language impairment		HP:0040283		orphadata	ORPHA:352582
57465	TBC1D24	HP:0001263	Global developmental delay		HP:0040282		orphadata	ORPHA:352582
57465	TBC1D24	HP:0001336	Myoclonus		HP:0040282		orphadata	ORPHA:352582
57465	TBC1D24	HP:0007207	Photosensitive tonic-clonic seizures		HP:0040283		orphadata	ORPHA:352582
57465	TBC1D24	HP:0002121	Absence seizure		HP:0040283		orphadata	ORPHA:352582
57465	TBC1D24	HP:0001256	Intellectual disability, mild		HP:0040282		orphadata	ORPHA:352582
57465	TBC1D24	HP:0010862	Delayed fine motor development		HP:0040283		orphadata	ORPHA:352582
57465	TBC1D24	HP:0007018	Attention deficit hyperactivity disorder		HP:0040282		orphadata	ORPHA:352582
57465	TBC1D24	HP:0031423	Small cerebellar cortex		HP:0040283		orphadata	ORPHA:79500
57465	TBC1D24	HP:0002937	Hemivertebrae		HP:0040284		orphadata	ORPHA:79500
57465	TBC1D24	HP:0000219	Thin upper lip vermilion		HP:0040282		orphadata	ORPHA:79500
57465	TBC1D24	HP:0000294	Low anterior hairline		HP:0040282		orphadata	ORPHA:79500
57465	TBC1D24	HP:0001263	Global developmental delay		HP:0040281		orphadata	ORPHA:79500
57465	TBC1D24	HP:0008947	Infantile muscular hypotonia		HP:0040282		orphadata	ORPHA:79500
57465	TBC1D24	HP:0001719	Double outlet right ventricle		HP:0040283		orphadata	ORPHA:79500
57465	TBC1D24	HP:0001336	Myoclonus		HP:0040283		orphadata	ORPHA:79500
57465	TBC1D24	HP:0000687	Widely spaced teeth		HP:0040283		orphadata	ORPHA:79500
57465	TBC1D24	HP:0000175	Cleft palate		HP:0040283		orphadata	ORPHA:79500
57465	TBC1D24	HP:0002384	Focal impaired awareness seizure		HP:0040282		orphadata	ORPHA:79500
57465	TBC1D24	HP:0008221	Adrenal hyperplasia		HP:0040284		orphadata	ORPHA:79500
57465	TBC1D24	HP:0000218	High palate		HP:0040284		orphadata	ORPHA:79500
57465	TBC1D24	HP:0010347	Aplasia/Hypoplasia of the phalanges of the 2nd toe		HP:0040282		orphadata	ORPHA:79500
57465	TBC1D24	HP:0001199	Triphalangeal thumb		HP:0040283		orphadata	ORPHA:79500
57465	TBC1D24	HP:0000179	Thick lower lip vermilion		HP:0040282		orphadata	ORPHA:79500
57465	TBC1D24	HP:0000343	Long philtrum		HP:0040281		orphadata	ORPHA:79500
57465	TBC1D24	HP:0000518	Cataract		HP:0040284		orphadata	ORPHA:79500
57465	TBC1D24	HP:0009237	Short 5th finger		HP:0040282		orphadata	ORPHA:79500
57465	TBC1D24	HP:0002126	Polymicrogyria		HP:0040284		orphadata	ORPHA:79500
57465	TBC1D24	HP:0002139	Arrhinencephaly		HP:0040284		orphadata	ORPHA:79500
57465	TBC1D24	HP:0009830	Peripheral neuropathy		HP:0040283		orphadata	ORPHA:79500
57465	TBC1D24	HP:0001561	Polyhydramnios		HP:0040282		orphadata	ORPHA:79500
57465	TBC1D24	HP:0003298	Spina bifida occulta		HP:0040284		orphadata	ORPHA:79500
57465	TBC1D24	HP:0012810	Wide nasal base		HP:0040281		orphadata	ORPHA:79500
57465	TBC1D24	HP:0011951	Aspiration pneumonia		HP:0040283		orphadata	ORPHA:79500
57465	TBC1D24	HP:0000248	Brachycephaly		HP:0040283		orphadata	ORPHA:79500
57465	TBC1D24	HP:0000280	Coarse facial features		HP:0040282		orphadata	ORPHA:79500
57465	TBC1D24	HP:0002714	Downturned corners of mouth		HP:0040282		orphadata	ORPHA:79500
57465	TBC1D24	HP:0000696	Delayed eruption of permanent teeth		HP:0040283		orphadata	ORPHA:79500
57465	TBC1D24	HP:0000729	Autistic behavior		HP:0040283		orphadata	ORPHA:79500
57465	TBC1D24	HP:0002007	Frontal bossing		HP:0040283		orphadata	ORPHA:79500
57465	TBC1D24	HP:0000316	Hypertelorism		HP:0040282		orphadata	ORPHA:79500
57465	TBC1D24	HP:0001817	Absent fingernail		HP:0040281		orphadata	ORPHA:79500
57465	TBC1D24	HP:0004209	Clinodactyly of the 5th finger		HP:0040282		orphadata	ORPHA:79500
57465	TBC1D24	HP:0000286	Epicanthus		HP:0040282		orphadata	ORPHA:79500
57465	TBC1D24	HP:0011326	Anterior plagiocephaly		HP:0040284		orphadata	ORPHA:79500
57465	TBC1D24	HP:0012725	Cutaneous syndactyly		HP:0040284		orphadata	ORPHA:79500
57465	TBC1D24	HP:0000851	Congenital hypothyroidism		HP:0040283		orphadata	ORPHA:79500
57465	TBC1D24	HP:0006934	Congenital nystagmus		HP:0040284		orphadata	ORPHA:79500
57465	TBC1D24	HP:0009882	Short distal phalanx of finger		HP:0040282		orphadata	ORPHA:79500
57465	TBC1D24	HP:0002069	Generalized tonic-clonic seizures		HP:0040282		orphadata	ORPHA:79500
57465	TBC1D24	HP:0100797	Toenail dysplasia		HP:0040281		orphadata	ORPHA:79500
57465	TBC1D24	HP:0000675	Macrodontia of permanent maxillary central incisor		HP:0040283		orphadata	ORPHA:79500
57465	TBC1D24	HP:0002020	Gastroesophageal reflux		HP:0040283		orphadata	ORPHA:79500
57465	TBC1D24	HP:0010497	Sirenomelia		HP:0040284		orphadata	ORPHA:79500
57465	TBC1D24	HP:0011409	Abnormality of placental membranes		HP:0040284		orphadata	ORPHA:79500
57465	TBC1D24	HP:0000212	Gingival overgrowth		HP:0040281		orphadata	ORPHA:79500
57465	TBC1D24	HP:0000200	Short lingual frenulum		HP:0040283		orphadata	ORPHA:79500
57465	TBC1D24	HP:0001488	Bilateral ptosis		HP:0040283		orphadata	ORPHA:79500
57465	TBC1D24	HP:0012402	Increased urine alpha-ketoglutarate concentration		HP:0040282		orphadata	ORPHA:79500
57465	TBC1D24	HP:0000252	Microcephaly		HP:0040283		orphadata	ORPHA:79500
57465	TBC1D24	HP:0000189	Narrow palate		HP:0040283		orphadata	ORPHA:79500
57465	TBC1D24	HP:0000648	Optic atrophy		HP:0040283		orphadata	ORPHA:79500
57465	TBC1D24	HP:0000878	11 pairs of ribs		HP:0040284		orphadata	ORPHA:79500
57465	TBC1D24	HP:0031282	Malalignment of the great toenail		HP:0040283		orphadata	ORPHA:79500
57465	TBC1D24	HP:0000269	Prominent occiput		HP:0040283		orphadata	ORPHA:79500
57465	TBC1D24	HP:0002353	EEG abnormality		HP:0040281		orphadata	ORPHA:79500
57465	TBC1D24	HP:0000369	Low-set ears		HP:0040282		orphadata	ORPHA:79500
57465	TBC1D24	HP:0002033	Poor suck		HP:0040282		orphadata	ORPHA:79500
57465	TBC1D24	HP:0001305	Dandy-Walker malformation		HP:0040284		orphadata	ORPHA:79500
57465	TBC1D24	HP:0000121	Nephrocalcinosis		HP:0040283		orphadata	ORPHA:79500
57465	TBC1D24	HP:0000431	Wide nasal bridge		HP:0040281		orphadata	ORPHA:79500
57465	TBC1D24	HP:0000486	Strabismus		HP:0040284		orphadata	ORPHA:79500
57465	TBC1D24	HP:0004626	Lumbar scoliosis		HP:0040284		orphadata	ORPHA:79500
57465	TBC1D24	HP:0000062	Ambiguous genitalia		HP:0040284		orphadata	ORPHA:79500
57465	TBC1D24	HP:0000545	Myopia		HP:0040283		orphadata	ORPHA:79500
57465	TBC1D24	HP:0000187	Broad alveolar ridges		HP:0040283		orphadata	ORPHA:79500
57465	TBC1D24	HP:0001894	Thrombocytosis		HP:0040284		orphadata	ORPHA:79500
57465	TBC1D24	HP:0002098	Respiratory distress		HP:0040283		orphadata	ORPHA:79500
57465	TBC1D24	HP:0001265	Hyporeflexia		HP:0040282		orphadata	ORPHA:79500
57465	TBC1D24	HP:0000194	Open mouth		HP:0040282		orphadata	ORPHA:79500
57465	TBC1D24	HP:0000413	Atresia of the external auditory canal		HP:0040284		orphadata	ORPHA:79500
57465	TBC1D24	HP:0001231	Abnormal fingernail morphology		HP:0040281		orphadata	ORPHA:79500
57465	TBC1D24	HP:0000126	Hydronephrosis		HP:0040284		orphadata	ORPHA:79500
57465	TBC1D24	HP:0004442	Sagittal craniosynostosis		HP:0040283		orphadata	ORPHA:79500
57465	TBC1D24	HP:0008110	Equinovarus deformity		HP:0040284		orphadata	ORPHA:79500
57465	TBC1D24	HP:0000474	Thickened nuchal skin fold		HP:0040282		orphadata	ORPHA:79500
57465	TBC1D24	HP:0005306	Capillary hemangioma		HP:0040283		orphadata	ORPHA:79500
57465	TBC1D24	HP:0000455	Broad nasal tip		HP:0040283		orphadata	ORPHA:79500
57465	TBC1D24	HP:0000414	Bulbous nose		HP:0040282		orphadata	ORPHA:79500
57465	TBC1D24	HP:0002301	Hemiplegia		HP:0040283		orphadata	ORPHA:352596
57465	TBC1D24	HP:0001336	Myoclonus		HP:0040281		orphadata	ORPHA:352596
57465	TBC1D24	HP:0001326	EEG with irregular generalized spike and wave complexes		HP:0040282		orphadata	ORPHA:352596
57465	TBC1D24	HP:0008935	Generalized neonatal hypotonia		HP:0040282		orphadata	ORPHA:352596
57465	TBC1D24	HP:0000648	Optic atrophy		HP:0040284		orphadata	ORPHA:352596
57465	TBC1D24	HP:0002071	Abnormality of extrapyramidal motor function		HP:0040283		orphadata	ORPHA:352596
57465	TBC1D24	HP:0002123	Generalized myoclonic seizures		HP:0040282		orphadata	ORPHA:352596
57465	TBC1D24	HP:0000252	Microcephaly		HP:0040282		orphadata	ORPHA:352596
57465	TBC1D24	HP:0002788	Recurrent upper respiratory tract infections		HP:0040281		orphadata	ORPHA:352596
57465	TBC1D24	HP:0200134	Epileptic encephalopathy		HP:0040282		orphadata	ORPHA:352596
57465	TBC1D24	HP:0002506	Diffuse cerebral atrophy		HP:0040283		orphadata	ORPHA:352596
57465	TBC1D24	HP:0001263	Global developmental delay		HP:0040283		orphadata	ORPHA:352596
57465	TBC1D24	HP:0001332	Dystonia		HP:0040281		orphadata	ORPHA:352596
57465	TBC1D24	HP:0002188	Delayed CNS myelination		HP:0040282		orphadata	ORPHA:352596
57465	TBC1D24	HP:0011968	Feeding difficulties		HP:0040282		orphadata	ORPHA:352596
57465	TBC1D24	HP:0100275	Diffuse cerebellar atrophy		HP:0040283		orphadata	ORPHA:352596
57465	TBC1D24	HP:0025152	Poor visual behavior for age		HP:0040283		orphadata	ORPHA:352596
57465	TBC1D24	HP:0002133	Status epilepticus		HP:0040282		orphadata	ORPHA:352596
57465	TBC1D24	HP:0001269	Hemiparesis		HP:0040283		orphadata	ORPHA:352596
57465	TBC1D24	HP:0002376	Developmental regression		HP:0040282		orphadata	ORPHA:352596
57465	TBC1D24	HP:0007256	Abnormal pyramidal sign		HP:0040281		orphadata	ORPHA:352596
57465	TBC1D24	HP:0002189	Excessive daytime sleepiness		HP:0040283		orphadata	ORPHA:352596
57465	TBC1D24	HP:0000414	Bulbous nose			-	mim2gene	OMIM:220500
57465	TBC1D24	HP:0003676	Progressive			-	mim2gene	OMIM:220500
57465	TBC1D24	HP:0011003	High myopia			-	mim2gene	OMIM:220500
57465	TBC1D24	HP:0000369	Low-set ears			-	mim2gene	OMIM:220500
57465	TBC1D24	HP:0000463	Anteverted nares			-	mim2gene	OMIM:220500
57465	TBC1D24	HP:0002059	Cerebral atrophy			-	mim2gene	OMIM:220500
57465	TBC1D24	HP:0011476	Profound sensorineural hearing impairment			-	mim2gene	OMIM:220500
57465	TBC1D24	HP:0000648	Optic atrophy			-	mim2gene	OMIM:220500
57465	TBC1D24	HP:0000951	Abnormality of the skin			-	mim2gene	OMIM:220500
57465	TBC1D24	HP:0000218	High palate			-	mim2gene	OMIM:220500
57465	TBC1D24	HP:0009882	Short distal phalanx of finger			-	mim2gene	OMIM:220500
57465	TBC1D24	HP:0000618	Blindness			-	mim2gene	OMIM:220500
57465	TBC1D24	HP:0001798	Anonychia			-	mim2gene	OMIM:220500
57465	TBC1D24	HP:0008404	Nail dystrophy			-	mim2gene	OMIM:220500
57465	TBC1D24	HP:0000104	Renal agenesis		HP:0040283	-	mim2gene	OMIM:220500
57465	TBC1D24	HP:0000431	Wide nasal bridge			-	mim2gene	OMIM:220500
57465	TBC1D24	HP:0002164	Nail dysplasia			-	mim2gene	OMIM:220500
57465	TBC1D24	HP:0001252	Muscular hypotonia			-	mim2gene	OMIM:220500
57465	TBC1D24	HP:0001265	Hyporeflexia			-	mim2gene	OMIM:220500
57465	TBC1D24	HP:0001627	Abnormal heart morphology		HP:0040283	-	mim2gene	OMIM:220500
57465	TBC1D24	HP:0000232	Everted lower lip vermilion			-	mim2gene	OMIM:220500
57465	TBC1D24	HP:0001156	Brachydactyly			-	mim2gene	OMIM:220500
57465	TBC1D24	HP:0001249	Intellectual disability			-	mim2gene	OMIM:220500
57465	TBC1D24	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:220500
57465	TBC1D24	HP:0001271	Polyneuropathy			-	mim2gene	OMIM:220500
57465	TBC1D24	HP:0001250	Seizures			-	mim2gene	OMIM:220500
57465	TBC1D24	HP:0001290	Generalized hypotonia			-	mim2gene	OMIM:220500
57465	TBC1D24	HP:0000343	Long philtrum			-	mim2gene	OMIM:220500
57465	TBC1D24	HP:0001798	Anonychia			-	mim2gene	OMIM:220500
57465	TBC1D24	HP:0000800	Cystic renal dysplasia		HP:0040283	-	mim2gene	OMIM:220500
57465	TBC1D24	HP:0000252	Microcephaly			-	mim2gene	OMIM:220500
57465	TBC1D24	HP:0001199	Triphalangeal thumb			-	mim2gene	OMIM:220500
57465	TBC1D24	HP:0008619	Bilateral sensorineural hearing impairment			-	mim2gene	OMIM:220500
57465	TBC1D24	HP:0001305	Dandy-Walker malformation		HP:0040283	-	mim2gene	OMIM:220500
57465	TBC1D24	HP:0002714	Downturned corners of mouth			-	mim2gene	OMIM:220500
57465	TBC1D24	HP:0000448	Prominent nose			-	mim2gene	OMIM:220500
57465	TBC1D24	HP:0000407	Sensorineural hearing impairment			-	mim2gene	OMIM:220500
57465	TBC1D24	HP:0000518	Cataract			-	mim2gene	OMIM:220500
57465	TBC1D24	HP:0000280	Coarse facial features			-	mim2gene	OMIM:220500
8313	AXIN2	HP:0200063	Colorectal polyposis		HP:0040282		orphadata	ORPHA:401911
8313	AXIN2	HP:0005227	Adenomatous colonic polyposis		HP:0040282		orphadata	ORPHA:401911
8313	AXIN2	HP:0003003	Colon cancer		HP:0040283		orphadata	ORPHA:401911
8313	AXIN2	HP:0006716	Hereditary nonpolyposis colorectal carcinoma			-	mim2gene	OMIM:114500
8313	AXIN2	HP:0006740	Transitional cell carcinoma of the bladder			-	mim2gene	OMIM:114500
8313	AXIN2	HP:0001428	Somatic mutation			-	mim2gene	OMIM:114500
8313	AXIN2	HP:0001428	Somatic mutation			-	mim2gene	OMIM:114500
8313	AXIN2	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:114500
8313	AXIN2	HP:0002891	Uterine leiomyosarcoma			-	mim2gene	OMIM:114500
8313	AXIN2	HP:0006753	Neoplasm of the stomach			-	mim2gene	OMIM:114500
8313	AXIN2	HP:0005584	Renal cell carcinoma			-	mim2gene	OMIM:114500
8313	AXIN2	HP:0005227	Adenomatous colonic polyposis	2/12		-	mim2gene	OMIM:608615
8313	AXIN2	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:608615
8313	AXIN2	HP:0002209	Sparse scalp hair		HP:0040283	-	mim2gene	OMIM:608615
8313	AXIN2	HP:0000677	Oligodontia			-	mim2gene	OMIM:608615
8313	AXIN2	HP:0000677	Oligodontia		HP:0040281		orphadata	ORPHA:99798
8313	AXIN2	HP:0000327	Hypoplasia of the maxilla		HP:0040281		orphadata	ORPHA:99798
8313	AXIN2	HP:0000691	Microdontia		HP:0040281		orphadata	ORPHA:99798
8313	AXIN2	HP:0000347	Micrognathia		HP:0040281		orphadata	ORPHA:99798
8314	BAP1	HP:0200026	Ocular pain		HP:0040284		orphadata	ORPHA:39044
8314	BAP1	HP:0011524	Iris melanoma		HP:0040282		orphadata	ORPHA:39044
8314	BAP1	HP:0000539	Abnormality of refraction		HP:0040283		orphadata	ORPHA:39044
8314	BAP1	HP:0011499	Mydriasis		HP:0040283		orphadata	ORPHA:39044
8314	BAP1	HP:0008494	Inferior lens subluxation		HP:0040283		orphadata	ORPHA:39044
8314	BAP1	HP:0007906	Ocular hypertension		HP:0040283		orphadata	ORPHA:39044
8314	BAP1	HP:0010920	Zonular cataract		HP:0040283		orphadata	ORPHA:39044
8314	BAP1	HP:0012055	Ciliary body melanoma		HP:0040282		orphadata	ORPHA:39044
8314	BAP1	HP:0100533	Inflammatory abnormality of the eye		HP:0040284		orphadata	ORPHA:39044
8314	BAP1	HP:0000541	Retinal detachment		HP:0040282		orphadata	ORPHA:39044
8314	BAP1	HP:0030786	Photopsia		HP:0040283		orphadata	ORPHA:39044
8314	BAP1	HP:0012054	Choroidal melanoma		HP:0040281		orphadata	ORPHA:39044
8314	BAP1	HP:0000572	Visual loss		HP:0040281		orphadata	ORPHA:39044
8314	BAP1	HP:0007902	Vitreous hemorrhage		HP:0040283		orphadata	ORPHA:39044
8314	BAP1	HP:0030800	Abnormal visual accommodation		HP:0040283		orphadata	ORPHA:39044
8314	BAP1	HP:0012508	Metamorphopsia		HP:0040283		orphadata	ORPHA:39044
8314	BAP1	HP:0200026	Ocular pain		HP:0040284		orphadata	ORPHA:39044
8314	BAP1	HP:0011524	Iris melanoma		HP:0040282		orphadata	ORPHA:39044
8314	BAP1	HP:0000539	Abnormality of refraction		HP:0040283		orphadata	ORPHA:39044
8314	BAP1	HP:0011499	Mydriasis		HP:0040283		orphadata	ORPHA:39044
8314	BAP1	HP:0008494	Inferior lens subluxation		HP:0040283		orphadata	ORPHA:39044
8314	BAP1	HP:0007906	Ocular hypertension		HP:0040283		orphadata	ORPHA:39044
8314	BAP1	HP:0010920	Zonular cataract		HP:0040283		orphadata	ORPHA:39044
8314	BAP1	HP:0012055	Ciliary body melanoma		HP:0040282		orphadata	ORPHA:39044
8314	BAP1	HP:0100533	Inflammatory abnormality of the eye		HP:0040284		orphadata	ORPHA:39044
8314	BAP1	HP:0000541	Retinal detachment		HP:0040282		orphadata	ORPHA:39044
8314	BAP1	HP:0030786	Photopsia		HP:0040283		orphadata	ORPHA:39044
8314	BAP1	HP:0012054	Choroidal melanoma		HP:0040281		orphadata	ORPHA:39044
8314	BAP1	HP:0000572	Visual loss		HP:0040281		orphadata	ORPHA:39044
8314	BAP1	HP:0007902	Vitreous hemorrhage		HP:0040283		orphadata	ORPHA:39044
8314	BAP1	HP:0030800	Abnormal visual accommodation		HP:0040283		orphadata	ORPHA:39044
8314	BAP1	HP:0012508	Metamorphopsia		HP:0040283		orphadata	ORPHA:39044
8314	BAP1	HP:0001595	Abnormal hair morphology		HP:0040282		orphadata	ORPHA:618
8314	BAP1	HP:0002071	Abnormality of extrapyramidal motor function		HP:0040283		orphadata	ORPHA:618
8314	BAP1	HP:0100013	Neoplasm of the breast		HP:0040283		orphadata	ORPHA:618
8314	BAP1	HP:0006753	Neoplasm of the stomach		HP:0040283		orphadata	ORPHA:618
8314	BAP1	HP:0003764	Nevus		HP:0040281		orphadata	ORPHA:618
8314	BAP1	HP:0000488	Retinopathy		HP:0040283		orphadata	ORPHA:618
8314	BAP1	HP:0000958	Dry skin		HP:0040282		orphadata	ORPHA:618
8314	BAP1	HP:0001480	Freckling		HP:0040282		orphadata	ORPHA:618
8314	BAP1	HP:0002861	Melanoma		HP:0040281		orphadata	ORPHA:618
8314	BAP1	HP:0002894	Neoplasm of the pancreas		HP:0040283		orphadata	ORPHA:618
8314	BAP1	HP:0100763	Abnormality of the lymphatic system		HP:0040282		orphadata	ORPHA:618
8314	BAP1	HP:0012056	Cutaneous melanoma			-	mim2gene	OMIM:614327
8314	BAP1	HP:0007716	Uveal melanoma			-	mim2gene	OMIM:614327
8314	BAP1	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:614327
8314	BAP1	HP:0005584	Renal cell carcinoma			-	mim2gene	OMIM:614327
8314	BAP1	HP:0030078	Lung adenocarcinoma			-	mim2gene	OMIM:614327
8314	BAP1	HP:0002858	Meningioma			-	mim2gene	OMIM:614327
57468	SLC12A5	HP:0007256	Abnormal pyramidal sign			-	mim2gene	OMIM:616645
57468	SLC12A5	HP:0001263	Global developmental delay			-	mim2gene	OMIM:616645
57468	SLC12A5	HP:0007334	Generalized tonic-clonic seizures with focal onset			-	mim2gene	OMIM:616645
57468	SLC12A5	HP:0002188	Delayed CNS myelination			-	mim2gene	OMIM:616645
57468	SLC12A5	HP:0002059	Cerebral atrophy			-	mim2gene	OMIM:616645
57468	SLC12A5	HP:0003593	Infantile onset			-	mim2gene	OMIM:616645
57468	SLC12A5	HP:0001249	Intellectual disability			-	mim2gene	OMIM:616645
57468	SLC12A5	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:616645
57468	SLC12A5	HP:0005484	Postnatal microcephaly			-	mim2gene	OMIM:616645
57468	SLC12A5	HP:0002540	Inability to walk			-	mim2gene	OMIM:616645
57468	SLC12A5	HP:0006813	Hemiclonic seizures			-	mim2gene	OMIM:616645
57468	SLC12A5	HP:0003781	Excessive salivation			-	mim2gene	OMIM:616645
57468	SLC12A5	HP:0002133	Status epilepticus			-	mim2gene	OMIM:616645
57468	SLC12A5	HP:0002376	Developmental regression			-	mim2gene	OMIM:616645
57468	SLC12A5	HP:0002069	Generalized tonic-clonic seizures			susceptibility	mim2gene	OMIM:616685
57468	SLC12A5	HP:0000006	Autosomal dominant inheritance			susceptibility	mim2gene	OMIM:616685
57468	SLC12A5	HP:0003829	Incomplete penetrance			susceptibility	mim2gene	OMIM:616685
57468	SLC12A5	HP:0002373	Febrile seizures		HP:0040283	susceptibility	mim2gene	OMIM:616685
57468	SLC12A5	HP:0002121	Absence seizure			susceptibility	mim2gene	OMIM:616685
57468	SLC12A5	HP:0002123	Generalized myoclonic seizures			susceptibility	mim2gene	OMIM:616685
125	ADH1B	HP:0000707	Abnormality of the nervous system			susceptibility	mim2gene	OMIM:103780
125	ADH1B	HP:0030955	Alcoholism			susceptibility	mim2gene	OMIM:103780
8318	CDC45	HP:0000253	Progressive microcephaly			-	mim2gene	OMIM:617063
8318	CDC45	HP:0000520	Proptosis			-	mim2gene	OMIM:617063
8318	CDC45	HP:0000453	Choanal atresia			-	mim2gene	OMIM:617063
8318	CDC45	HP:0004442	Sagittal craniosynostosis			-	mim2gene	OMIM:617063
8318	CDC45	HP:0002089	Pulmonary hypoplasia			-	mim2gene	OMIM:617063
8318	CDC45	HP:0000486	Strabismus			-	mim2gene	OMIM:617063
8318	CDC45	HP:0000054	Micropenis			-	mim2gene	OMIM:617063
8318	CDC45	HP:0001388	Joint laxity			-	mim2gene	OMIM:617063
8318	CDC45	HP:0000545	Myopia			-	mim2gene	OMIM:617063
8318	CDC45	HP:0000047	Hypospadias			-	mim2gene	OMIM:617063
8318	CDC45	HP:0002650	Scoliosis			-	mim2gene	OMIM:617063
8318	CDC45	HP:0008551	Microtia			-	mim2gene	OMIM:617063
8318	CDC45	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:617063
8318	CDC45	HP:0002025	Anal stenosis			-	mim2gene	OMIM:617063
8318	CDC45	HP:0000160	Narrow mouth			-	mim2gene	OMIM:617063
8318	CDC45	HP:0000218	High palate			-	mim2gene	OMIM:617063
8318	CDC45	HP:0000365	Hearing impairment			-	mim2gene	OMIM:617063
8318	CDC45	HP:0004691	2-3 toe syndactyly			-	mim2gene	OMIM:617063
8318	CDC45	HP:0100867	Duodenal stenosis			-	mim2gene	OMIM:617063
8318	CDC45	HP:0004322	Short stature			-	mim2gene	OMIM:617063
8318	CDC45	HP:0004325	Decreased body weight			-	mim2gene	OMIM:617063
8318	CDC45	HP:0008665	Clitoral hypertrophy			-	mim2gene	OMIM:617063
8318	CDC45	HP:0001674	Complete atrioventricular canal defect			-	mim2gene	OMIM:617063
8318	CDC45	HP:0002023	Anal atresia			-	mim2gene	OMIM:617063
8318	CDC45	HP:0000175	Cleft palate			-	mim2gene	OMIM:617063
8318	CDC45	HP:0000260	Wide anterior fontanel			-	mim2gene	OMIM:617063
8318	CDC45	HP:0007099	Arnold-Chiari type I malformation			-	mim2gene	OMIM:617063
8318	CDC45	HP:0000028	Cryptorchidism			-	mim2gene	OMIM:617063
8318	CDC45	HP:0100258	Preaxial polydactyly			-	mim2gene	OMIM:617063
8318	CDC45	HP:0012227	Urethral stricture			-	mim2gene	OMIM:617063
8318	CDC45	HP:0000076	Vesicoureteral reflux			-	mim2gene	OMIM:617063
8318	CDC45	HP:0002979	Bowing of the legs			-	mim2gene	OMIM:617063
8318	CDC45	HP:0045074	Thin eyebrow			-	mim2gene	OMIM:617063
8318	CDC45	HP:0001217	Clubbing			-	mim2gene	OMIM:617063
8318	CDC45	HP:0001631	Atrial septal defect			-	mim2gene	OMIM:617063
8318	CDC45	HP:0001629	Ventricular septal defect			-	mim2gene	OMIM:617063
8318	CDC45	HP:0006498	Aplasia/Hypoplasia of the patella			-	mim2gene	OMIM:617063
8318	CDC45	HP:0001263	Global developmental delay			-	mim2gene	OMIM:617063
8318	CDC45	HP:0000365	Hearing impairment		HP:0040283		orphadata	ORPHA:2554
8318	CDC45	HP:0001508	Failure to thrive		HP:0040281		orphadata	ORPHA:2554
8318	CDC45	HP:0000369	Low-set ears		HP:0040282		orphadata	ORPHA:2554
8318	CDC45	HP:0000327	Hypoplasia of the maxilla		HP:0040282		orphadata	ORPHA:2554
8318	CDC45	HP:0001328	Specific learning disability		HP:0040283		orphadata	ORPHA:2554
8318	CDC45	HP:0000064	Hypoplastic labia minora		HP:0040282		orphadata	ORPHA:2554
8318	CDC45	HP:0002750	Delayed skeletal maturation		HP:0040281		orphadata	ORPHA:2554
8318	CDC45	HP:0000039	Epispadias		HP:0040283		orphadata	ORPHA:2554
8318	CDC45	HP:0009892	Anotia		HP:0040281		orphadata	ORPHA:2554
8318	CDC45	HP:0003510	Severe short stature		HP:0040281		orphadata	ORPHA:2554
8318	CDC45	HP:0009939	Mandibular aplasia		HP:0040281		orphadata	ORPHA:2554
8318	CDC45	HP:0000047	Hypospadias		HP:0040283		orphadata	ORPHA:2554
8318	CDC45	HP:0000252	Microcephaly		HP:0040281		orphadata	ORPHA:2554
8318	CDC45	HP:0000413	Atresia of the external auditory canal		HP:0040281		orphadata	ORPHA:2554
8318	CDC45	HP:0000028	Cryptorchidism		HP:0040281		orphadata	ORPHA:2554
8318	CDC45	HP:0002098	Respiratory distress		HP:0040282		orphadata	ORPHA:2554
8318	CDC45	HP:0001363	Craniosynostosis		HP:0040282		orphadata	ORPHA:2554
8318	CDC45	HP:0000160	Narrow mouth		HP:0040281		orphadata	ORPHA:2554
8318	CDC45	HP:0000772	Abnormality of the ribs		HP:0040282		orphadata	ORPHA:2554
8318	CDC45	HP:0004209	Clinodactyly of the 5th finger		HP:0040281		orphadata	ORPHA:2554
8318	CDC45	HP:0000060	Clitoral hypoplasia		HP:0040282		orphadata	ORPHA:2554
8318	CDC45	HP:0011267	Microtia, third degree		HP:0040281		orphadata	ORPHA:2554
8318	CDC45	HP:0011968	Feeding difficulties		HP:0040281		orphadata	ORPHA:2554
8318	CDC45	HP:0000347	Micrognathia		HP:0040281		orphadata	ORPHA:2554
8318	CDC45	HP:0002878	Respiratory failure		HP:0040282		orphadata	ORPHA:2554
8318	CDC45	HP:0000358	Posteriorly rotated ears		HP:0040282		orphadata	ORPHA:2554
8318	CDC45	HP:0012471	Thick vermilion border		HP:0040283		orphadata	ORPHA:2554
8318	CDC45	HP:0001263	Global developmental delay		HP:0040283		orphadata	ORPHA:2554
8318	CDC45	HP:0003100	Slender long bone		HP:0040281		orphadata	ORPHA:2554
8318	CDC45	HP:0001249	Intellectual disability		HP:0040283		orphadata	ORPHA:2554
8318	CDC45	HP:0005692	Joint hyperflexibility		HP:0040281		orphadata	ORPHA:2554
8318	CDC45	HP:0008665	Clitoral hypertrophy		HP:0040282		orphadata	ORPHA:2554
8318	CDC45	HP:0003042	Elbow dislocation		HP:0040283		orphadata	ORPHA:2554
8318	CDC45	HP:0100783	Breast aplasia		HP:0040283		orphadata	ORPHA:2554
8318	CDC45	HP:0000176	Submucous cleft hard palate		HP:0040283		orphadata	ORPHA:2554
8318	CDC45	HP:0002705	High, narrow palate		HP:0040282		orphadata	ORPHA:2554
8318	CDC45	HP:0000278	Retrognathia		HP:0040281		orphadata	ORPHA:2554
8318	CDC45	HP:0006660	Aplastic clavicle		HP:0040282		orphadata	ORPHA:2554
8318	CDC45	HP:0001511	Intrauterine growth retardation		HP:0040281		orphadata	ORPHA:2554
8318	CDC45	HP:0005930	Abnormality of epiphysis morphology		HP:0040281		orphadata	ORPHA:2554
8318	CDC45	HP:0100490	Camptodactyly of finger		HP:0040282		orphadata	ORPHA:2554
8318	CDC45	HP:0006443	Patellar aplasia		HP:0040282		orphadata	ORPHA:2554
8318	CDC45	HP:0000193	Bifid uvula		HP:0040283		orphadata	ORPHA:2554
8318	CDC45	HP:0008736	Hypoplasia of penis		HP:0040283		orphadata	ORPHA:2554
8318	CDC45	HP:0000059	Hypoplastic labia majora		HP:0040282		orphadata	ORPHA:2554
126	ADH1C	HP:0000707	Abnormality of the nervous system			susceptibility	mim2gene	OMIM:103780
126	ADH1C	HP:0030955	Alcoholism			susceptibility	mim2gene	OMIM:103780
126	ADH1C	HP:0001260	Dysarthria			susceptibility	mim2gene	OMIM:168600
126	ADH1C	HP:0002172	Postural instability			susceptibility	mim2gene	OMIM:168600
126	ADH1C	HP:0001332	Dystonia			susceptibility	mim2gene	OMIM:168600
126	ADH1C	HP:0011960	Substantia nigra gliosis			susceptibility	mim2gene	OMIM:168600
126	ADH1C	HP:0012332	Abnormal autonomic nervous system physiology		HP:0040283	susceptibility	mim2gene	OMIM:168600
126	ADH1C	HP:0100315	Lewy bodies			susceptibility	mim2gene	OMIM:168600
126	ADH1C	HP:0002322	Resting tremor			susceptibility	mim2gene	OMIM:168600
126	ADH1C	HP:0001621	Weak voice			susceptibility	mim2gene	OMIM:168600
126	ADH1C	HP:0000006	Autosomal dominant inheritance			susceptibility	mim2gene	OMIM:168600
126	ADH1C	HP:0000726	Dementia			susceptibility	mim2gene	OMIM:168600
126	ADH1C	HP:0002529	Neuronal loss in central nervous system			susceptibility	mim2gene	OMIM:168600
126	ADH1C	HP:0000751	Personality changes			susceptibility	mim2gene	OMIM:168600
126	ADH1C	HP:0003587	Insidious onset			susceptibility	mim2gene	OMIM:168600
126	ADH1C	HP:0001337	Tremor			susceptibility	mim2gene	OMIM:168600
126	ADH1C	HP:0001300	Parkinsonism			susceptibility	mim2gene	OMIM:168600
126	ADH1C	HP:0002015	Dysphagia			susceptibility	mim2gene	OMIM:168600
126	ADH1C	HP:0002360	Sleep disturbance			susceptibility	mim2gene	OMIM:168600
126	ADH1C	HP:0031908	Micrographia			susceptibility	mim2gene	OMIM:168600
126	ADH1C	HP:0000298	Mask-like facies			susceptibility	mim2gene	OMIM:168600
126	ADH1C	HP:0002019	Constipation			susceptibility	mim2gene	OMIM:168600
126	ADH1C	HP:0003745	Sporadic			susceptibility	mim2gene	OMIM:168600
126	ADH1C	HP:0000738	Hallucinations		HP:0040283	susceptibility	mim2gene	OMIM:168600
126	ADH1C	HP:0000716	Depressivity			susceptibility	mim2gene	OMIM:168600
126	ADH1C	HP:0000012	Urinary urgency			susceptibility	mim2gene	OMIM:168600
126	ADH1C	HP:0003676	Progressive			susceptibility	mim2gene	OMIM:168600
126	ADH1C	HP:0002063	Rigidity			susceptibility	mim2gene	OMIM:168600
126	ADH1C	HP:0002067	Bradykinesia			susceptibility	mim2gene	OMIM:168600
126	ADH1C	HP:0007311	Short stepped shuffling gait			susceptibility	mim2gene	OMIM:168600
8320	EOMES	HP:0001274	Agenesis of corpus callosum		HP:0040282		orphadata	ORPHA:171703
8320	EOMES	HP:0011451	Congenital microcephaly		HP:0040282		orphadata	ORPHA:171703
8320	EOMES	HP:0002719	Recurrent infections		HP:0040282		orphadata	ORPHA:171703
8320	EOMES	HP:0002126	Polymicrogyria		HP:0040282		orphadata	ORPHA:171703
8320	EOMES	HP:0002119	Ventriculomegaly		HP:0040282		orphadata	ORPHA:171703
8320	EOMES	HP:0001321	Cerebellar hypoplasia		HP:0040282		orphadata	ORPHA:171703
8320	EOMES	HP:0002098	Respiratory distress		HP:0040282		orphadata	ORPHA:171703
8322	FZD4	HP:0002757	Recurrent fractures			-	mim2gene	OMIM:133780
8322	FZD4	HP:0003677	Slow progression			-	mim2gene	OMIM:133780
8322	FZD4	HP:0000618	Blindness			-	mim2gene	OMIM:133780
8322	FZD4	HP:0030490	Exudative vitreoretinopathy			-	mim2gene	OMIM:133780
8322	FZD4	HP:0001493	Falciform retinal fold			-	mim2gene	OMIM:133780
8322	FZD4	HP:0030666	Retinal neovascularization			-	mim2gene	OMIM:133780
8322	FZD4	HP:0007663	Reduced visual acuity			-	mim2gene	OMIM:133780
8322	FZD4	HP:0001489	Posterior vitreous detachment			-	mim2gene	OMIM:133780
8322	FZD4	HP:0003593	Infantile onset			-	mim2gene	OMIM:133780
8322	FZD4	HP:0001147	Retinal exudate			-	mim2gene	OMIM:133780
8322	FZD4	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:133780
8322	FZD4	HP:0000541	Retinal detachment			-	mim2gene	OMIM:133780
8322	FZD4	HP:0000523	Subcapsular cataract			-	mim2gene	OMIM:133780
8322	FZD4	HP:0007685	Peripheral retinal avascularization			-	mim2gene	OMIM:133780
8322	FZD4	HP:0007902	Vitreous hemorrhage			-	mim2gene	OMIM:133780
8322	FZD4	HP:0001136	Retinal arteriolar tortuosity		HP:0040283		orphadata	ORPHA:90050
8322	FZD4	HP:0001103	Abnormal macular morphology		HP:0040283		orphadata	ORPHA:90050
8322	FZD4	HP:0007902	Vitreous hemorrhage		HP:0040283		orphadata	ORPHA:90050
8322	FZD4	HP:0001518	Small for gestational age		HP:0040281		orphadata	ORPHA:90050
8322	FZD4	HP:0007917	Tractional retinal detachment		HP:0040283		orphadata	ORPHA:90050
8322	FZD4	HP:0001622	Premature birth		HP:0040281		orphadata	ORPHA:90050
8322	FZD4	HP:0000618	Blindness		HP:0040283		orphadata	ORPHA:90050
8323	FZD6	HP:0012542	Onychauxis			-	mim2gene	OMIM:614157
8323	FZD6	HP:0001806	Onycholysis			-	mim2gene	OMIM:614157
8323	FZD6	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:614157
132	ADK	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:614300
132	ADK	HP:0001250	Seizures			-	mim2gene	OMIM:614300
132	ADK	HP:0000316	Hypertelorism			-	mim2gene	OMIM:614300
132	ADK	HP:0006580	Portal fibrosis			-	mim2gene	OMIM:614300
132	ADK	HP:0011344	Severe global developmental delay			-	mim2gene	OMIM:614300
132	ADK	HP:0000256	Macrocephaly			-	mim2gene	OMIM:614300
132	ADK	HP:0003676	Progressive			-	mim2gene	OMIM:614300
132	ADK	HP:0000750	Delayed speech and language development			-	mim2gene	OMIM:614300
132	ADK	HP:0001263	Global developmental delay			-	mim2gene	OMIM:614300
132	ADK	HP:0003202	Skeletal muscle atrophy			-	mim2gene	OMIM:614300
132	ADK	HP:0000407	Sensorineural hearing impairment		HP:0040283	-	mim2gene	OMIM:614300
132	ADK	HP:0002007	Frontal bossing			-	mim2gene	OMIM:614300
132	ADK	HP:0002465	Poor speech			-	mim2gene	OMIM:614300
132	ADK	HP:0001642	Pulmonic stenosis		HP:0040283	-	mim2gene	OMIM:614300
132	ADK	HP:0001680	Coarctation of aorta		HP:0040283	-	mim2gene	OMIM:614300
132	ADK	HP:0001508	Failure to thrive			-	mim2gene	OMIM:614300
132	ADK	HP:0002904	Hyperbilirubinemia			-	mim2gene	OMIM:614300
132	ADK	HP:0001631	Atrial septal defect		HP:0040283	-	mim2gene	OMIM:614300
132	ADK	HP:0002910	Elevated hepatic transaminase			-	mim2gene	OMIM:614300
132	ADK	HP:0001290	Generalized hypotonia			-	mim2gene	OMIM:614300
132	ADK	HP:0003235	Hypermethioninemia			-	mim2gene	OMIM:614300
132	ADK	HP:0001786	Narrow foot			-	mim2gene	OMIM:614300
132	ADK	HP:0001396	Cholestasis			-	mim2gene	OMIM:614300
132	ADK	HP:0001397	Hepatic steatosis			-	mim2gene	OMIM:614300
132	ADK	HP:0003593	Infantile onset			-	mim2gene	OMIM:614300
132	ADK	HP:0002059	Cerebral atrophy			-	mim2gene	OMIM:614300
132	ADK	HP:0001410	Decreased liver function			-	mim2gene	OMIM:614300
57477	SHROOM4	HP:0000286	Epicanthus		HP:0040282		orphadata	ORPHA:85288
57477	SHROOM4	HP:0001007	Hirsutism		HP:0040282		orphadata	ORPHA:85288
57477	SHROOM4	HP:0002205	Recurrent respiratory infections		HP:0040282		orphadata	ORPHA:85288
57477	SHROOM4	HP:0000752	Hyperactivity		HP:0040282		orphadata	ORPHA:85288
57477	SHROOM4	HP:0004322	Short stature		HP:0040282		orphadata	ORPHA:85288
57477	SHROOM4	HP:0005280	Depressed nasal bridge		HP:0040282		orphadata	ORPHA:85288
57477	SHROOM4	HP:0001518	Small for gestational age		HP:0040282		orphadata	ORPHA:85288
57477	SHROOM4	HP:0010864	Intellectual disability, severe		HP:0040282		orphadata	ORPHA:85288
57477	SHROOM4	HP:0003144	Increased serum serotonin		HP:0040283		orphadata	ORPHA:85288
57477	SHROOM4	HP:0008780	Congenital bilateral hip dislocation		HP:0040282		orphadata	ORPHA:85288
57477	SHROOM4	HP:0001344	Absent speech		HP:0040283		orphadata	ORPHA:85288
57477	SHROOM4	HP:0000518	Cataract		HP:0040283		orphadata	ORPHA:85288
57477	SHROOM4	HP:0001762	Talipes equinovarus		HP:0040282		orphadata	ORPHA:85288
57477	SHROOM4	HP:0000486	Strabismus		HP:0040282		orphadata	ORPHA:85288
57477	SHROOM4	HP:0002808	Kyphosis		HP:0040282		orphadata	ORPHA:85288
57477	SHROOM4	HP:0001250	Seizures		HP:0040282		orphadata	ORPHA:85288
57477	SHROOM4	HP:0001773	Short foot			-	mim2gene	OMIM:300434
57477	SHROOM4	HP:0002808	Kyphosis			-	mim2gene	OMIM:300434
57477	SHROOM4	HP:0200055	Small hand			-	mim2gene	OMIM:300434
57477	SHROOM4	HP:0004322	Short stature			-	mim2gene	OMIM:300434
57477	SHROOM4	HP:0005280	Depressed nasal bridge			-	mim2gene	OMIM:300434
57477	SHROOM4	HP:0001007	Hirsutism			-	mim2gene	OMIM:300434
57477	SHROOM4	HP:0001762	Talipes equinovarus			-	mim2gene	OMIM:300434
57477	SHROOM4	HP:0000316	Hypertelorism			-	mim2gene	OMIM:300434
57477	SHROOM4	HP:0000752	Hyperactivity			-	mim2gene	OMIM:300434
57477	SHROOM4	HP:0003763	Bruxism			-	mim2gene	OMIM:300434
57477	SHROOM4	HP:0001417	X-linked inheritance			-	mim2gene	OMIM:300434
57477	SHROOM4	HP:0000486	Strabismus			-	mim2gene	OMIM:300434
57477	SHROOM4	HP:0001263	Global developmental delay			-	mim2gene	OMIM:300434
57477	SHROOM4	HP:0002020	Gastroesophageal reflux			-	mim2gene	OMIM:300434
57477	SHROOM4	HP:0002827	Hip dislocation			-	mim2gene	OMIM:300434
57477	SHROOM4	HP:0000252	Microcephaly			-	mim2gene	OMIM:300434
57477	SHROOM4	HP:0001344	Absent speech			-	mim2gene	OMIM:300434
57477	SHROOM4	HP:0001250	Seizures		HP:0040283	-	mim2gene	OMIM:300434
57477	SHROOM4	HP:0002650	Scoliosis			-	mim2gene	OMIM:300434
57477	SHROOM4	HP:0000286	Epicanthus			-	mim2gene	OMIM:300434
57477	SHROOM4	HP:0002187	Intellectual disability, profound			-	mim2gene	OMIM:300434
8328	GFI1B	HP:0012526	Absence of alpha granules			-	mim2gene	OMIM:187900
8328	GFI1B	HP:0001873	Thrombocytopenia			-	mim2gene	OMIM:187900
8328	GFI1B	HP:0002239	Gastrointestinal hemorrhage			-	mim2gene	OMIM:187900
8328	GFI1B	HP:0000421	Epistaxis			-	mim2gene	OMIM:187900
8328	GFI1B	HP:0003593	Infantile onset			-	mim2gene	OMIM:187900
8328	GFI1B	HP:0003337	Reduced prothrombin consumption			-	mim2gene	OMIM:187900
8328	GFI1B	HP:0011974	Myelofibrosis			-	mim2gene	OMIM:187900
8328	GFI1B	HP:0000967	Petechiae			-	mim2gene	OMIM:187900
8328	GFI1B	HP:0003010	Prolonged bleeding time			-	mim2gene	OMIM:187900
8328	GFI1B	HP:0031364	Ecchymosis			-	mim2gene	OMIM:187900
8328	GFI1B	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:187900
8328	GFI1B	HP:0000978	Bruising susceptibility			-	mim2gene	OMIM:187900
8328	GFI1B	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:187900
8328	GFI1B	HP:0003828	Variable expressivity			-	mim2gene	OMIM:187900
8328	GFI1B	HP:0002863	Myelodysplasia		HP:0040282		orphadata	ORPHA:721
8328	GFI1B	HP:0000421	Epistaxis		HP:0040282		orphadata	ORPHA:721
8328	GFI1B	HP:0001873	Thrombocytopenia		HP:0040281		orphadata	ORPHA:721
8328	GFI1B	HP:0000978	Bruising susceptibility		HP:0040281		orphadata	ORPHA:721
8328	GFI1B	HP:0001744	Splenomegaly		HP:0040282		orphadata	ORPHA:721
8328	GFI1B	HP:0000140	Abnormality of the menstrual cycle		HP:0040282		orphadata	ORPHA:721
123016	TTC8	HP:0000110	Renal dysplasia		HP:0040283	-	mim2gene	OMIM:615985
123016	TTC8	HP:0001513	Obesity			-	mim2gene	OMIM:615985
123016	TTC8	HP:0001696	Situs inversus totalis		HP:0040283	-	mim2gene	OMIM:615985
123016	TTC8	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:615985
123016	TTC8	HP:0000248	Brachycephaly			-	mim2gene	OMIM:615985
123016	TTC8	HP:0001263	Global developmental delay			-	mim2gene	OMIM:615985
123016	TTC8	HP:0001249	Intellectual disability			-	mim2gene	OMIM:615985
123016	TTC8	HP:0010442	Polydactyly			-	mim2gene	OMIM:615985
123016	TTC8	HP:0000135	Hypogonadism			-	mim2gene	OMIM:615985
123016	TTC8	HP:0000510	Rod-cone dystrophy			-	mim2gene	OMIM:615985
123016	TTC8	HP:0100543	Cognitive impairment			-	mim2gene	OMIM:615985
123016	TTC8	HP:0000047	Hypospadias			-	mim2gene	OMIM:615985
123016	TTC8	HP:0000100	Nephrotic syndrome		HP:0040283		orphadata	ORPHA:110
123016	TTC8	HP:0006101	Finger syndactyly		HP:0040283		orphadata	ORPHA:110
123016	TTC8	HP:0000494	Downslanted palpebral fissures		HP:0040283		orphadata	ORPHA:110
123016	TTC8	HP:0002230	Generalized hirsutism		HP:0040283		orphadata	ORPHA:110
123016	TTC8	HP:0008724	Hypoplasia of the ovary		HP:0040282		orphadata	ORPHA:110
123016	TTC8	HP:0000135	Hypogonadism		HP:0040282		orphadata	ORPHA:110
123016	TTC8	HP:0010747	Medial flaring of the eyebrow		HP:0040283		orphadata	ORPHA:110
123016	TTC8	HP:0000368	Low-set, posteriorly rotated ears		HP:0040283		orphadata	ORPHA:110
123016	TTC8	HP:0000639	Nystagmus		HP:0040282		orphadata	ORPHA:110
123016	TTC8	HP:0000822	Hypertension		HP:0040282		orphadata	ORPHA:110
123016	TTC8	HP:0000512	Abnormal electroretinogram		HP:0040281		orphadata	ORPHA:110
123016	TTC8	HP:0001395	Hepatic fibrosis		HP:0040283		orphadata	ORPHA:110
123016	TTC8	HP:0000365	Hearing impairment		HP:0040283		orphadata	ORPHA:110
123016	TTC8	HP:0000426	Prominent nasal bridge		HP:0040283		orphadata	ORPHA:110
123016	TTC8	HP:0001162	Postaxial hand polydactyly		HP:0040281		orphadata	ORPHA:110
123016	TTC8	HP:0003202	Skeletal muscle atrophy		HP:0040283		orphadata	ORPHA:110
123016	TTC8	HP:0002167	Neurological speech impairment		HP:0040283		orphadata	ORPHA:110
123016	TTC8	HP:0001513	Obesity		HP:0040281		orphadata	ORPHA:110
123016	TTC8	HP:0008736	Hypoplasia of penis		HP:0040282		orphadata	ORPHA:110
123016	TTC8	HP:0000003	Multicystic kidney dysplasia		HP:0040281		orphadata	ORPHA:110
123016	TTC8	HP:0000470	Short neck		HP:0040283		orphadata	ORPHA:110
123016	TTC8	HP:0000028	Cryptorchidism		HP:0040283		orphadata	ORPHA:110
123016	TTC8	HP:0001249	Intellectual disability		HP:0040281		orphadata	ORPHA:110
123016	TTC8	HP:0004322	Short stature		HP:0040282		orphadata	ORPHA:110
123016	TTC8	HP:0000580	Pigmentary retinopathy		HP:0040281		orphadata	ORPHA:110
123016	TTC8	HP:0000510	Rod-cone dystrophy			question	mim2gene	OMIM:613464
123016	TTC8	HP:0000662	Nyctalopia			question	mim2gene	OMIM:613464
123016	TTC8	HP:0007663	Reduced visual acuity			question	mim2gene	OMIM:613464
123016	TTC8	HP:0000613	Photophobia			question	mim2gene	OMIM:613464
123016	TTC8	HP:0007737	Bone spicule pigmentation of the retina			question	mim2gene	OMIM:613464
123016	TTC8	HP:0000980	Pallor			question	mim2gene	OMIM:613464
123016	TTC8	HP:0007843	Attenuation of retinal blood vessels			question	mim2gene	OMIM:613464
123016	TTC8	HP:0011003	High myopia			question	mim2gene	OMIM:613464
123016	TTC8	HP:0000007	Autosomal recessive inheritance			question	mim2gene	OMIM:613464
123016	TTC8	HP:0000608	Macular degeneration			question	mim2gene	OMIM:613464
123016	TTC8	HP:0008323	Abnormal light- and dark-adapted electroretinogram			question	mim2gene	OMIM:613464
123016	TTC8	HP:0001347	Hyperreflexia		HP:0040283		orphadata	ORPHA:791
123016	TTC8	HP:0000987	Atypical scarring of skin		HP:0040281		orphadata	ORPHA:791
123016	TTC8	HP:0000405	Conductive hearing impairment		HP:0040281		orphadata	ORPHA:791
123016	TTC8	HP:0000639	Nystagmus		HP:0040281		orphadata	ORPHA:791
123016	TTC8	HP:0000648	Optic atrophy		HP:0040281		orphadata	ORPHA:791
123016	TTC8	HP:0008736	Hypoplasia of penis		HP:0040281		orphadata	ORPHA:791
123016	TTC8	HP:0000512	Abnormal electroretinogram		HP:0040281		orphadata	ORPHA:791
123016	TTC8	HP:0000518	Cataract		HP:0040282		orphadata	ORPHA:791
123016	TTC8	HP:0007675	Progressive night blindness		HP:0040281		orphadata	ORPHA:791
123016	TTC8	HP:0000501	Glaucoma		HP:0040282		orphadata	ORPHA:791
123016	TTC8	HP:0005978	Type II diabetes mellitus		HP:0040283		orphadata	ORPHA:791
123016	TTC8	HP:0007703	Abnormality of retinal pigmentation		HP:0040281		orphadata	ORPHA:791
123016	TTC8	HP:0000618	Blindness		HP:0040281		orphadata	ORPHA:791
123016	TTC8	HP:0000602	Ophthalmoplegia		HP:0040282		orphadata	ORPHA:791
123016	TTC8	HP:0000613	Photophobia		HP:0040281		orphadata	ORPHA:791
123016	TTC8	HP:0000463	Anteverted nares		HP:0040281		orphadata	ORPHA:791
123016	TTC8	HP:0000135	Hypogonadism		HP:0040281		orphadata	ORPHA:791
123016	TTC8	HP:0001249	Intellectual disability		HP:0040281		orphadata	ORPHA:791
123016	TTC8	HP:0000563	Keratoconus		HP:0040282		orphadata	ORPHA:791
123016	TTC8	HP:0000407	Sensorineural hearing impairment		HP:0040281		orphadata	ORPHA:791
123016	TTC8	HP:0001513	Obesity		HP:0040282		orphadata	ORPHA:791
123016	TTC8	HP:0000431	Wide nasal bridge		HP:0040281		orphadata	ORPHA:791
123016	TTC8	HP:0008046	Abnormal retinal vascular morphology		HP:0040281		orphadata	ORPHA:791
123016	TTC8	HP:0000842	Hyperinsulinemia		HP:0040282		orphadata	ORPHA:791
123016	TTC8	HP:0000035	Abnormal testis morphology		HP:0040281		orphadata	ORPHA:791
139411	PTCHD1	HP:0100034	Motor tics			susceptibility	mim2gene	OMIM:300830
139411	PTCHD1	HP:0001290	Generalized hypotonia		HP:0040283	susceptibility	mim2gene	OMIM:300830
139411	PTCHD1	HP:0001249	Intellectual disability			susceptibility	mim2gene	OMIM:300830
139411	PTCHD1	HP:0000717	Autism		HP:0040280	susceptibility	mim2gene	OMIM:300830
139411	PTCHD1	HP:0000718	Aggressive behavior			susceptibility	mim2gene	OMIM:300830
139411	PTCHD1	HP:0003828	Variable expressivity			susceptibility	mim2gene	OMIM:300830
139411	PTCHD1	HP:0007018	Attention deficit hyperactivity disorder			susceptibility	mim2gene	OMIM:300830
139411	PTCHD1	HP:0003593	Infantile onset			susceptibility	mim2gene	OMIM:300830
139411	PTCHD1	HP:0001419	X-linked recessive inheritance			susceptibility	mim2gene	OMIM:300830
139411	PTCHD1	HP:0100710	Impulsivity			susceptibility	mim2gene	OMIM:300830
139411	PTCHD1	HP:0002465	Poor speech		HP:0040283		orphadata	ORPHA:777
139411	PTCHD1	HP:0002121	Absence seizure		HP:0040283		orphadata	ORPHA:777
139411	PTCHD1	HP:0000343	Long philtrum		HP:0040283		orphadata	ORPHA:777
139411	PTCHD1	HP:0000494	Downslanted palpebral fissures		HP:0040283		orphadata	ORPHA:777
139411	PTCHD1	HP:0000629	Periorbital fullness		HP:0040283		orphadata	ORPHA:777
139411	PTCHD1	HP:0008587	Mild neurosensory hearing impairment		HP:0040283		orphadata	ORPHA:777
139411	PTCHD1	HP:0002245	Meckel diverticulum		HP:0040283		orphadata	ORPHA:777
139411	PTCHD1	HP:0005280	Depressed nasal bridge		HP:0040283		orphadata	ORPHA:777
139411	PTCHD1	HP:0002342	Intellectual disability, moderate		HP:0040281		orphadata	ORPHA:777
139411	PTCHD1	HP:0000455	Broad nasal tip		HP:0040283		orphadata	ORPHA:777
139411	PTCHD1	HP:0001513	Obesity		HP:0040283		orphadata	ORPHA:777
139411	PTCHD1	HP:0008504	Moderate sensorineural hearing impairment		HP:0040283		orphadata	ORPHA:777
139411	PTCHD1	HP:0010864	Intellectual disability, severe		HP:0040283		orphadata	ORPHA:777
139411	PTCHD1	HP:0012704	Widened subarachnoid space		HP:0040283		orphadata	ORPHA:777
139411	PTCHD1	HP:0000684	Delayed eruption of teeth		HP:0040283		orphadata	ORPHA:777
139411	PTCHD1	HP:0006118	Shortening of all distal phalanges of the fingers		HP:0040283		orphadata	ORPHA:777
139411	PTCHD1	HP:0000256	Macrocephaly		HP:0040283		orphadata	ORPHA:777
139411	PTCHD1	HP:0000729	Autistic behavior		HP:0040282		orphadata	ORPHA:777
139411	PTCHD1	HP:0010628	Facial palsy		HP:0040283		orphadata	ORPHA:777
139411	PTCHD1	HP:0001518	Small for gestational age		HP:0040283		orphadata	ORPHA:777
139411	PTCHD1	HP:0000219	Thin upper lip vermilion		HP:0040283		orphadata	ORPHA:777
139411	PTCHD1	HP:0002021	Pyloric stenosis		HP:0040283		orphadata	ORPHA:777
139411	PTCHD1	HP:0000750	Delayed speech and language development		HP:0040282		orphadata	ORPHA:777
139411	PTCHD1	HP:0003487	Babinski sign		HP:0040283		orphadata	ORPHA:777
139411	PTCHD1	HP:0011800	Midface retrusion		HP:0040283		orphadata	ORPHA:777
139411	PTCHD1	HP:0000020	Urinary incontinence		HP:0040283		orphadata	ORPHA:777
139411	PTCHD1	HP:0000637	Long palpebral fissure		HP:0040283		orphadata	ORPHA:777
139411	PTCHD1	HP:0004691	2-3 toe syndactyly		HP:0040283		orphadata	ORPHA:777
139411	PTCHD1	HP:0002069	Generalized tonic-clonic seizures		HP:0040283		orphadata	ORPHA:777
139411	PTCHD1	HP:0001763	Pes planus		HP:0040283		orphadata	ORPHA:777
139411	PTCHD1	HP:0002307	Drooling		HP:0040283		orphadata	ORPHA:777
139411	PTCHD1	HP:0007018	Attention deficit hyperactivity disorder		HP:0040283		orphadata	ORPHA:777
139411	PTCHD1	HP:0005824	Clinodactyly of the 2nd toe		HP:0040283		orphadata	ORPHA:777
139411	PTCHD1	HP:0000179	Thick lower lip vermilion		HP:0040283		orphadata	ORPHA:777
139411	PTCHD1	HP:0001263	Global developmental delay		HP:0040282		orphadata	ORPHA:777
139411	PTCHD1	HP:0002187	Intellectual disability, profound		HP:0040283		orphadata	ORPHA:777
57492	ARID1B	HP:0006498	Aplasia/Hypoplasia of the patella		HP:0040282		orphadata	ORPHA:1465
57492	ARID1B	HP:0000639	Nystagmus		HP:0040282		orphadata	ORPHA:1465
57492	ARID1B	HP:0000508	Ptosis		HP:0040283		orphadata	ORPHA:1465
57492	ARID1B	HP:0003298	Spina bifida occulta		HP:0040283		orphadata	ORPHA:1465
57492	ARID1B	HP:0000175	Cleft palate		HP:0040283		orphadata	ORPHA:1465
57492	ARID1B	HP:0000154	Wide mouth		HP:0040282		orphadata	ORPHA:1465
57492	ARID1B	HP:0100371	Aplasia/Hypoplasia of the distal phalanx of the 5th toe		HP:0040283		orphadata	ORPHA:1465
57492	ARID1B	HP:0001511	Intrauterine growth retardation		HP:0040282		orphadata	ORPHA:1465
57492	ARID1B	HP:0002673	Coxa valga		HP:0040283		orphadata	ORPHA:1465
57492	ARID1B	HP:0001250	Seizures		HP:0040282		orphadata	ORPHA:1465
57492	ARID1B	HP:0000527	Long eyelashes		HP:0040281		orphadata	ORPHA:1465
57492	ARID1B	HP:0009239	Aplasia/Hypoplasia of the distal phalanx of the 5th finger		HP:0040281		orphadata	ORPHA:1465
57492	ARID1B	HP:0000322	Short philtrum		HP:0040283		orphadata	ORPHA:1465
57492	ARID1B	HP:0000365	Hearing impairment		HP:0040282		orphadata	ORPHA:1465
57492	ARID1B	HP:0007360	Aplasia/Hypoplasia of the cerebellum		HP:0040282		orphadata	ORPHA:1465
57492	ARID1B	HP:0009882	Short distal phalanx of finger		HP:0040281		orphadata	ORPHA:1465
57492	ARID1B	HP:0002205	Recurrent respiratory infections		HP:0040282		orphadata	ORPHA:1465
57492	ARID1B	HP:0000776	Congenital diaphragmatic hernia		HP:0040283		orphadata	ORPHA:1465
57492	ARID1B	HP:0001249	Intellectual disability		HP:0040281		orphadata	ORPHA:1465
57492	ARID1B	HP:0000965	Cutis marmorata		HP:0040283		orphadata	ORPHA:1465
57492	ARID1B	HP:0004322	Short stature		HP:0040281		orphadata	ORPHA:1465
57492	ARID1B	HP:0030680	Abnormality of cardiovascular system morphology		HP:0040282		orphadata	ORPHA:1465
57492	ARID1B	HP:0000286	Epicanthus		HP:0040283		orphadata	ORPHA:1465
57492	ARID1B	HP:0005108	Abnormality of the intervertebral disk		HP:0040283		orphadata	ORPHA:1465
57492	ARID1B	HP:0000164	Abnormality of the dentition		HP:0040281		orphadata	ORPHA:1465
57492	ARID1B	HP:0000028	Cryptorchidism		HP:0040282		orphadata	ORPHA:1465
57492	ARID1B	HP:0011937	Hypoplastic fifth toenail		HP:0040283		orphadata	ORPHA:1465
57492	ARID1B	HP:0008678	Renal hypoplasia/aplasia		HP:0040283		orphadata	ORPHA:1465
57492	ARID1B	HP:0000574	Thick eyebrow		HP:0040281		orphadata	ORPHA:1465
57492	ARID1B	HP:0000632	Lacrimation abnormality		HP:0040283		orphadata	ORPHA:1465
57492	ARID1B	HP:0000518	Cataract		HP:0040283		orphadata	ORPHA:1465
57492	ARID1B	HP:0000486	Strabismus		HP:0040282		orphadata	ORPHA:1465
57492	ARID1B	HP:0001338	Partial agenesis of the corpus callosum		HP:0040283		orphadata	ORPHA:1465
57492	ARID1B	HP:0001263	Global developmental delay		HP:0040281		orphadata	ORPHA:1465
57492	ARID1B	HP:0000457	Depressed nasal ridge		HP:0040282		orphadata	ORPHA:1465
57492	ARID1B	HP:0000252	Microcephaly		HP:0040281		orphadata	ORPHA:1465
57492	ARID1B	HP:0001252	Muscular hypotonia		HP:0040281		orphadata	ORPHA:1465
57492	ARID1B	HP:0007598	Bilateral single transverse palmar creases		HP:0040283		orphadata	ORPHA:1465
57492	ARID1B	HP:0001305	Dandy-Walker malformation		HP:0040282		orphadata	ORPHA:1465
57492	ARID1B	HP:0002808	Kyphosis		HP:0040283		orphadata	ORPHA:1465
57492	ARID1B	HP:0002650	Scoliosis		HP:0040282		orphadata	ORPHA:1465
57492	ARID1B	HP:0003042	Elbow dislocation		HP:0040282		orphadata	ORPHA:1465
57492	ARID1B	HP:0000086	Ectopic kidney		HP:0040283		orphadata	ORPHA:1465
57492	ARID1B	HP:0000889	Abnormality of the clavicle		HP:0040283		orphadata	ORPHA:1465
57492	ARID1B	HP:0008398	Hypoplastic fifth fingernail		HP:0040281		orphadata	ORPHA:1465
57492	ARID1B	HP:0002230	Generalized hirsutism		HP:0040281		orphadata	ORPHA:1465
57492	ARID1B	HP:0002217	Slow-growing hair		HP:0040281		orphadata	ORPHA:1465
57492	ARID1B	HP:0002079	Hypoplasia of the corpus callosum		HP:0040283		orphadata	ORPHA:1465
57492	ARID1B	HP:0005692	Joint hyperflexibility		HP:0040282		orphadata	ORPHA:1465
57492	ARID1B	HP:0003272	Abnormality of the hip bone		HP:0040283		orphadata	ORPHA:1465
57492	ARID1B	HP:0008872	Feeding difficulties in infancy		HP:0040281		orphadata	ORPHA:1465
57492	ARID1B	HP:0000179	Thick lower lip vermilion		HP:0040281		orphadata	ORPHA:1465
57492	ARID1B	HP:0000126	Hydronephrosis		HP:0040283		orphadata	ORPHA:1465
57492	ARID1B	HP:0000280	Coarse facial features		HP:0040281		orphadata	ORPHA:1465
57492	ARID1B	HP:0000431	Wide nasal bridge		HP:0040281		orphadata	ORPHA:1465
57492	ARID1B	HP:0005280	Depressed nasal bridge		HP:0040282		orphadata	ORPHA:1465
57492	ARID1B	HP:0000175	Cleft palate		HP:0040283		orphadata	ORPHA:251056
57492	ARID1B	HP:0002119	Ventriculomegaly		HP:0040283		orphadata	ORPHA:251056
57492	ARID1B	HP:0003241	External genital hypoplasia		HP:0040283		orphadata	ORPHA:251056
57492	ARID1B	HP:0001256	Intellectual disability, mild		HP:0040281		orphadata	ORPHA:251056
57492	ARID1B	HP:0000582	Upslanted palpebral fissure		HP:0040283		orphadata	ORPHA:251056
57492	ARID1B	HP:0004322	Short stature		HP:0040282		orphadata	ORPHA:251056
57492	ARID1B	HP:0030680	Abnormality of cardiovascular system morphology		HP:0040283		orphadata	ORPHA:251056
57492	ARID1B	HP:0000316	Hypertelorism		HP:0040282		orphadata	ORPHA:251056
57492	ARID1B	HP:0004209	Clinodactyly of the 5th finger		HP:0040283		orphadata	ORPHA:251056
57492	ARID1B	HP:0001263	Global developmental delay		HP:0040281		orphadata	ORPHA:251056
57492	ARID1B	HP:0000272	Malar flattening		HP:0040282		orphadata	ORPHA:251056
57492	ARID1B	HP:0000347	Micrognathia		HP:0040283		orphadata	ORPHA:251056
57492	ARID1B	HP:0001319	Neonatal hypotonia		HP:0040283		orphadata	ORPHA:251056
57492	ARID1B	HP:0001838	Rocker bottom foot		HP:0040283		orphadata	ORPHA:251056
57492	ARID1B	HP:0000343	Long philtrum		HP:0040283		orphadata	ORPHA:251056
57492	ARID1B	HP:0000252	Microcephaly		HP:0040281		orphadata	ORPHA:251056
57492	ARID1B	HP:0000504	Abnormality of vision		HP:0040282		orphadata	ORPHA:251056
57492	ARID1B	HP:0000218	High palate		HP:0040282		orphadata	ORPHA:251056
57492	ARID1B	HP:0001274	Agenesis of corpus callosum		HP:0040282		orphadata	ORPHA:251056
57492	ARID1B	HP:0001508	Failure to thrive		HP:0040282		orphadata	ORPHA:251056
57492	ARID1B	HP:0000368	Low-set, posteriorly rotated ears		HP:0040282		orphadata	ORPHA:251056
57492	ARID1B	HP:0000286	Epicanthus		HP:0040282		orphadata	ORPHA:251056
57492	ARID1B	HP:0001250	Seizures		HP:0040283		orphadata	ORPHA:251056
57492	ARID1B	HP:0000431	Wide nasal bridge		HP:0040282		orphadata	ORPHA:251056
57492	ARID1B	HP:0000407	Sensorineural hearing impairment		HP:0040281		orphadata	ORPHA:251056
57492	ARID1B	HP:0100490	Camptodactyly of finger		HP:0040283		orphadata	ORPHA:251056
57492	ARID1B	HP:0000377	Abnormality of the pinna		HP:0040282		orphadata	ORPHA:251056
57492	ARID1B	HP:0000494	Downslanted palpebral fissures		HP:0040282		orphadata	ORPHA:251056
57492	ARID1B	HP:0001357	Plagiocephaly		HP:0040282		orphadata	ORPHA:251056
57492	ARID1B	HP:0000218	High palate			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0002566	Intestinal malrotation			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000718	Aggressive behavior			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0008872	Feeding difficulties in infancy			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0100391	Short distal phalanx of the 5th toe			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0001620	High pitched voice			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000722	Obsessive-compulsive behavior		HP:0040284	-	mim2gene	OMIM:135900
57492	ARID1B	HP:0001643	Patent ductus arteriosus			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0004322	Short stature			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000089	Renal hypoplasia			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0001636	Tetralogy of Fallot			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000545	Myopia			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000776	Congenital diaphragmatic hernia			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0003298	Spina bifida occulta			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000684	Delayed eruption of teeth			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000219	Thin upper lip vermilion			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000965	Cutis marmorata			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000455	Broad nasal tip			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000494	Downslanted palpebral fissures			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000252	Microcephaly			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000574	Thick eyebrow			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000028	Cryptorchidism			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0001249	Intellectual disability			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0001305	Dandy-Walker malformation			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0001252	Muscular hypotonia			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0002750	Delayed skeletal maturation			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0006498	Aplasia/Hypoplasia of the patella			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000047	Hypospadias			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0002576	Intussusception			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0001212	Prominent fingertip pads			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000280	Coarse facial features			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0009747	Lumbosacral hirsutism			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0008398	Hypoplastic fifth fingernail			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000486	Strabismus			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000527	Long eyelashes			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000508	Ptosis			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000384	Preauricular skin tag			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0002219	Facial hypertrichosis			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000729	Autistic behavior			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0001537	Umbilical hernia			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0002808	Kyphosis			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000151	Aplasia of the uterus			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000154	Wide mouth			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0002650	Scoliosis			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0001338	Partial agenesis of the corpus callosum			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0001028	Hemangioma			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000601	Hypotelorism			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0001388	Joint laxity			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0002079	Hypoplasia of the corpus callosum			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0008897	Postnatal growth retardation			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0001511	Intrauterine growth retardation			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000639	Nystagmus			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000322	Short philtrum			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0001631	Atrial septal defect			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0004227	Short distal phalanx of the 5th finger			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0003083	Dislocated radial head			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0001609	Hoarse voice			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000179	Thick lower lip vermilion			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000483	Astigmatism			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0005280	Depressed nasal bridge			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0001250	Seizures			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0002592	Gastric ulcer			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000086	Ectopic kidney			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000023	Inguinal hernia			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0002673	Coxa valga			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0006237	Prominent interphalangeal joints			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0008398	Hypoplastic fifth fingernail			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000365	Hearing impairment			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000960	Sacral dimple			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0001798	Anonychia			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000331	Short chin			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000175	Cleft palate			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000505	Visual impairment			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000369	Low-set ears			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0001629	Ventricular septal defect			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000879	Short sternum			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0002209	Sparse scalp hair			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000377	Abnormality of the pinna			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0002588	Duodenal ulcer			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000358	Posteriorly rotated ears			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0001263	Global developmental delay			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0006863	Severe expressive language delay			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0002205	Recurrent respiratory infections			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000126	Hydronephrosis			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000453	Choanal atresia			-	mim2gene	OMIM:135900
57492	ARID1B	HP:0000954	Single transverse palmar crease			-	mim2gene	OMIM:135900
151	ADRA2B	HP:0007359	Focal-onset seizure		HP:0040282		orphadata	ORPHA:86814
151	ADRA2B	HP:0001249	Intellectual disability		HP:0040283		orphadata	ORPHA:86814
151	ADRA2B	HP:0002353	EEG abnormality		HP:0040281		orphadata	ORPHA:86814
151	ADRA2B	HP:0001336	Myoclonus		HP:0040281		orphadata	ORPHA:86814
151	ADRA2B	HP:0002315	Headache		HP:0040283		orphadata	ORPHA:86814
151	ADRA2B	HP:0002197	Generalized-onset seizure		HP:0040282		orphadata	ORPHA:86814
151	ADRA2B	HP:0100576	Amaurosis fugax		HP:0040283		orphadata	ORPHA:86814
151	ADRA2B	HP:0002378	Hand tremor		HP:0040281		orphadata	ORPHA:86814
154	ADRB2	HP:0000006	Autosomal dominant inheritance			susceptibility	mim2gene	OMIM:600807
154	ADRB2	HP:0001426	Multifactorial inheritance			susceptibility	mim2gene	OMIM:600807
154	ADRB2	HP:0002099	Asthma			susceptibility	mim2gene	OMIM:600807
154	ADRB2	HP:0000007	Autosomal recessive inheritance			susceptibility	mim2gene	OMIM:601665
154	ADRB2	HP:0031819	Increased waist to hip ratio			susceptibility	mim2gene	OMIM:601665
154	ADRB2	HP:0000006	Autosomal dominant inheritance			susceptibility	mim2gene	OMIM:601665
154	ADRB2	HP:0010982	Polygenic inheritance			susceptibility	mim2gene	OMIM:601665
154	ADRB2	HP:0012340	Decreased resting energy expenditure			susceptibility	mim2gene	OMIM:601665
154	ADRB2	HP:0001513	Obesity			susceptibility	mim2gene	OMIM:601665
57498	KIDINS220	HP:0002079	Hypoplasia of the corpus callosum		HP:0040282		orphadata	ORPHA:521390
57498	KIDINS220	HP:0001249	Intellectual disability		HP:0040282		orphadata	ORPHA:521390
57498	KIDINS220	HP:0002119	Ventriculomegaly		HP:0040282		orphadata	ORPHA:521390
57498	KIDINS220	HP:0001357	Plagiocephaly		HP:0040282		orphadata	ORPHA:521390
57498	KIDINS220	HP:0025312	Esophoria		HP:0040282		orphadata	ORPHA:521390
57498	KIDINS220	HP:0000540	Hypermetropia		HP:0040282		orphadata	ORPHA:521390
57498	KIDINS220	HP:0001561	Polyhydramnios		HP:0040283		orphadata	ORPHA:521390
57498	KIDINS220	HP:0002194	Delayed gross motor development		HP:0040282		orphadata	ORPHA:521390
57498	KIDINS220	HP:0000490	Deeply set eye		HP:0040282		orphadata	ORPHA:521390
57498	KIDINS220	HP:0011220	Prominent forehead		HP:0040282		orphadata	ORPHA:521390
57498	KIDINS220	HP:0007020	Progressive spastic paraplegia		HP:0040282		orphadata	ORPHA:521390
57498	KIDINS220	HP:0001513	Obesity		HP:0040282		orphadata	ORPHA:521390
57498	KIDINS220	HP:0011400	Abnormal CNS myelination		HP:0040282		orphadata	ORPHA:521390
57498	KIDINS220	HP:0000639	Nystagmus		HP:0040282		orphadata	ORPHA:521390
57498	KIDINS220	HP:0007663	Reduced visual acuity			-	mim2gene	OMIM:617296
57498	KIDINS220	HP:0012448	Delayed myelination			-	mim2gene	OMIM:617296
57498	KIDINS220	HP:0001258	Spastic paraplegia			-	mim2gene	OMIM:617296
57498	KIDINS220	HP:0000483	Astigmatism			-	mim2gene	OMIM:617296
57498	KIDINS220	HP:0001347	Hyperreflexia			-	mim2gene	OMIM:617296
57498	KIDINS220	HP:0001263	Global developmental delay			-	mim2gene	OMIM:617296
57498	KIDINS220	HP:0001249	Intellectual disability			-	mim2gene	OMIM:617296
57498	KIDINS220	HP:0003593	Infantile onset			-	mim2gene	OMIM:617296
57498	KIDINS220	HP:0002509	Limb hypertonia			-	mim2gene	OMIM:617296
57498	KIDINS220	HP:0006956	Dilation of lateral ventricles			-	mim2gene	OMIM:617296
57498	KIDINS220	HP:0000293	Full cheeks			-	mim2gene	OMIM:617296
57498	KIDINS220	HP:0001513	Obesity			-	mim2gene	OMIM:617296
57498	KIDINS220	HP:0002059	Cerebral atrophy			-	mim2gene	OMIM:617296
57498	KIDINS220	HP:0001338	Partial agenesis of the corpus callosum		HP:0040283	-	mim2gene	OMIM:617296
57498	KIDINS220	HP:0011220	Prominent forehead			-	mim2gene	OMIM:617296
57498	KIDINS220	HP:0000639	Nystagmus			-	mim2gene	OMIM:617296
57498	KIDINS220	HP:0000565	Esotropia			-	mim2gene	OMIM:617296
57498	KIDINS220	HP:0008936	Muscular hypotonia of the trunk			-	mim2gene	OMIM:617296
57498	KIDINS220	HP:0000750	Delayed speech and language development			-	mim2gene	OMIM:617296
57498	KIDINS220	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:617296
57498	KIDINS220	HP:0000540	Hypermetropia			-	mim2gene	OMIM:617296
57498	KIDINS220	HP:0000490	Deeply set eye			-	mim2gene	OMIM:617296
155	ADRB3	HP:0000007	Autosomal recessive inheritance			susceptibility	mim2gene	OMIM:601665
155	ADRB3	HP:0031819	Increased waist to hip ratio			susceptibility	mim2gene	OMIM:601665
155	ADRB3	HP:0000006	Autosomal dominant inheritance			susceptibility	mim2gene	OMIM:601665
155	ADRB3	HP:0010982	Polygenic inheritance			susceptibility	mim2gene	OMIM:601665
155	ADRB3	HP:0012340	Decreased resting energy expenditure			susceptibility	mim2gene	OMIM:601665
155	ADRB3	HP:0001513	Obesity			susceptibility	mim2gene	OMIM:601665
729238	SFTPA2	HP:0012735	Cough		HP:0040282		orphadata	ORPHA:2032
729238	SFTPA2	HP:0030830	Crackles		HP:0040282		orphadata	ORPHA:2032
729238	SFTPA2	HP:0002206	Pulmonary fibrosis		HP:0040282		orphadata	ORPHA:2032
729238	SFTPA2	HP:0002875	Exertional dyspnea		HP:0040282		orphadata	ORPHA:2032
729238	SFTPA2	HP:0025175	Honeycomb lung		HP:0040282		orphadata	ORPHA:2032
729238	SFTPA2	HP:0002020	Gastroesophageal reflux		HP:0040282		orphadata	ORPHA:2032
729238	SFTPA2	HP:0002110	Bronchiectasis		HP:0040282		orphadata	ORPHA:2032
729238	SFTPA2	HP:0025390	Reticular pattern on pulmonary HRCT		HP:0040282		orphadata	ORPHA:2032
729238	SFTPA2	HP:0100759	Clubbing of fingers		HP:0040282		orphadata	ORPHA:2032
729238	SFTPA2	HP:0010444	Pulmonary insufficiency		HP:0040283		orphadata	ORPHA:2032
729238	SFTPA2	HP:0025179	Ground-glass opacification on pulmonary HRCT		HP:0040282		orphadata	ORPHA:2032
729238	SFTPA2	HP:0006519	Alveolar cell carcinoma			-	mim2gene	OMIM:178500
729238	SFTPA2	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:178500
729238	SFTPA2	HP:0002875	Exertional dyspnea			-	mim2gene	OMIM:178500
729238	SFTPA2	HP:0012735	Cough			-	mim2gene	OMIM:178500
729238	SFTPA2	HP:0001217	Clubbing			-	mim2gene	OMIM:178500
729238	SFTPA2	HP:0010702	Increased antibody level in blood			-	mim2gene	OMIM:178500
729238	SFTPA2	HP:0002206	Pulmonary fibrosis			-	mim2gene	OMIM:178500
729238	SFTPA2	HP:0001394	Cirrhosis			-	mim2gene	OMIM:178500
729238	SFTPA2	HP:0002090	Pneumonia			-	mim2gene	OMIM:178500
729238	SFTPA2	HP:0100759	Clubbing of fingers	50%		-	mim2gene	OMIM:178500
729238	SFTPA2	HP:0002092	Pulmonary arterial hypertension			-	mim2gene	OMIM:178500
90268	OTULIN	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:617099
90268	OTULIN	HP:0009125	Lipodystrophy			-	mim2gene	OMIM:617099
90268	OTULIN	HP:0012490	Panniculitis			-	mim2gene	OMIM:617099
90268	OTULIN	HP:0001386	Joint swelling			-	mim2gene	OMIM:617099
90268	OTULIN	HP:0001508	Failure to thrive			-	mim2gene	OMIM:617099
90268	OTULIN	HP:0002716	Lymphadenopathy			-	mim2gene	OMIM:617099
90268	OTULIN	HP:0002014	Diarrhea		HP:0040283	-	mim2gene	OMIM:617099
90268	OTULIN	HP:0002633	Vasculitis		HP:0040283	-	mim2gene	OMIM:617099
90268	OTULIN	HP:0002829	Arthralgia			-	mim2gene	OMIM:617099
90268	OTULIN	HP:0011897	Neutrophilia			-	mim2gene	OMIM:617099
90268	OTULIN	HP:0003326	Myalgia			-	mim2gene	OMIM:617099
90268	OTULIN	HP:0001974	Leukocytosis			-	mim2gene	OMIM:617099
57502	NLGN4X	HP:0003144	Increased serum serotonin		HP:0040282	-	mim2gene	OMIM:300495
57502	NLGN4X	HP:0011463	Childhood onset			-	mim2gene	OMIM:300495
57502	NLGN4X	HP:0000721	Lack of spontaneous play			-	mim2gene	OMIM:300495
57502	NLGN4X	HP:0000733	Stereotypy			-	mim2gene	OMIM:300495
57502	NLGN4X	HP:0001417	X-linked inheritance			-	mim2gene	OMIM:300495
57502	NLGN4X	HP:0000758	Impaired use of nonverbal behaviors			-	mim2gene	OMIM:300495
57502	NLGN4X	HP:0002353	EEG abnormality		HP:0040282	-	mim2gene	OMIM:300495
57502	NLGN4X	HP:0001425	Heterogeneous			-	mim2gene	OMIM:300495
57502	NLGN4X	HP:0001249	Intellectual disability			-	mim2gene	OMIM:300495
57502	NLGN4X	HP:0002332	Lack of peer relationships			-	mim2gene	OMIM:300495
57502	NLGN4X	HP:0000723	Restrictive behavior			-	mim2gene	OMIM:300495
57502	NLGN4X	HP:0001426	Multifactorial inheritance			-	mim2gene	OMIM:300495
57502	NLGN4X	HP:0000717	Autism			-	mim2gene	OMIM:300495
57502	NLGN4X	HP:0003745	Sporadic			-	mim2gene	OMIM:300495
57502	NLGN4X	HP:0001250	Seizures		HP:0040282	-	mim2gene	OMIM:300495
57502	NLGN4X	HP:0000750	Delayed speech and language development			-	mim2gene	OMIM:300495
57502	NLGN4X	HP:0000732	Inflexible adherence to routines or rituals			-	mim2gene	OMIM:300495
57502	NLGN4X	HP:0000733	Stereotypy			susceptibility	mim2gene	OMIM:300497
57502	NLGN4X	HP:0001417	X-linked inheritance			susceptibility	mim2gene	OMIM:300497
57502	NLGN4X	HP:0001425	Heterogeneous			susceptibility	mim2gene	OMIM:300497
57502	NLGN4X	HP:0000728	Impaired ability to form peer relationships			susceptibility	mim2gene	OMIM:300497
57502	NLGN4X	HP:0003745	Sporadic			susceptibility	mim2gene	OMIM:300497
57502	NLGN4X	HP:0000732	Inflexible adherence to routines or rituals			susceptibility	mim2gene	OMIM:300497
57502	NLGN4X	HP:0000721	Lack of spontaneous play			susceptibility	mim2gene	OMIM:300497
57502	NLGN4X	HP:0001426	Multifactorial inheritance			susceptibility	mim2gene	OMIM:300497
57502	NLGN4X	HP:0000723	Restrictive behavior			susceptibility	mim2gene	OMIM:300497
57502	NLGN4X	HP:0000758	Impaired use of nonverbal behaviors			susceptibility	mim2gene	OMIM:300497
57502	NLGN4X	HP:0000717	Autism			susceptibility	mim2gene	OMIM:300497
57502	NLGN4X	HP:0003621	Juvenile onset			susceptibility	mim2gene	OMIM:300497
158	ADSL	HP:0000248	Brachycephaly		HP:0040281		orphadata	ORPHA:46
158	ADSL	HP:0007103	Hypointensity of cerebral white matter on MRI		HP:0040281		orphadata	ORPHA:46
158	ADSL	HP:0001344	Absent speech		HP:0040281		orphadata	ORPHA:46
158	ADSL	HP:0011344	Severe global developmental delay		HP:0040281		orphadata	ORPHA:46
158	ADSL	HP:0001999	Abnormal facial shape		HP:0040281		orphadata	ORPHA:46
158	ADSL	HP:0000219	Thin upper lip vermilion		HP:0040281		orphadata	ORPHA:46
158	ADSL	HP:0000319	Smooth philtrum		HP:0040281		orphadata	ORPHA:46
158	ADSL	HP:0001290	Generalized hypotonia		HP:0040281		orphadata	ORPHA:46
158	ADSL	HP:0000369	Low-set ears		HP:0040281		orphadata	ORPHA:46
158	ADSL	HP:0005487	Prominent metopic ridge		HP:0040281		orphadata	ORPHA:46
158	ADSL	HP:0000252	Microcephaly		HP:0040281		orphadata	ORPHA:46
158	ADSL	HP:0000463	Anteverted nares		HP:0040281		orphadata	ORPHA:46
158	ADSL	HP:0001250	Seizures		HP:0040281		orphadata	ORPHA:46
158	ADSL	HP:0001249	Intellectual disability		HP:0040281		orphadata	ORPHA:46
158	ADSL	HP:0000343	Long philtrum		HP:0040281		orphadata	ORPHA:46
158	ADSL	HP:0003196	Short nose		HP:0040281		orphadata	ORPHA:46
158	ADSL	HP:0005469	Flat occiput		HP:0040281		orphadata	ORPHA:46
158	ADSL	HP:0000817	Poor eye contact			-	mim2gene	OMIM:103050
158	ADSL	HP:0001250	Seizures			-	mim2gene	OMIM:103050
158	ADSL	HP:0001336	Myoclonus			-	mim2gene	OMIM:103050
158	ADSL	HP:0011344	Severe global developmental delay			-	mim2gene	OMIM:103050
158	ADSL	HP:0000752	Hyperactivity			-	mim2gene	OMIM:103050
158	ADSL	HP:0002066	Gait ataxia			-	mim2gene	OMIM:103050
158	ADSL	HP:0000343	Long philtrum			-	mim2gene	OMIM:103050
158	ADSL	HP:0000248	Brachycephaly			-	mim2gene	OMIM:103050
158	ADSL	HP:0005487	Prominent metopic ridge			-	mim2gene	OMIM:103050
158	ADSL	HP:0000252	Microcephaly		HP:0040283	-	mim2gene	OMIM:103050
158	ADSL	HP:0001348	Brisk reflexes			-	mim2gene	OMIM:103050
158	ADSL	HP:0000717	Autism			-	mim2gene	OMIM:103050
158	ADSL	HP:0000219	Thin upper lip vermilion			-	mim2gene	OMIM:103050
158	ADSL	HP:0000486	Strabismus			-	mim2gene	OMIM:103050
158	ADSL	HP:0000154	Wide mouth			-	mim2gene	OMIM:103050
158	ADSL	HP:0002179	Opisthotonus			-	mim2gene	OMIM:103050
158	ADSL	HP:0000319	Smooth philtrum			-	mim2gene	OMIM:103050
158	ADSL	HP:0003202	Skeletal muscle atrophy			-	mim2gene	OMIM:103050
158	ADSL	HP:0003429	CNS hypomyelination			-	mim2gene	OMIM:103050
158	ADSL	HP:0000750	Delayed speech and language development			-	mim2gene	OMIM:103050
158	ADSL	HP:0001272	Cerebellar atrophy			-	mim2gene	OMIM:103050
158	ADSL	HP:0000219	Thin upper lip vermilion			-	mim2gene	OMIM:103050
158	ADSL	HP:0000639	Nystagmus			-	mim2gene	OMIM:103050
158	ADSL	HP:0000742	Self-mutilation			-	mim2gene	OMIM:103050
158	ADSL	HP:0003196	Short nose			-	mim2gene	OMIM:103050
158	ADSL	HP:0002059	Cerebral atrophy			-	mim2gene	OMIM:103050
158	ADSL	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:103050
158	ADSL	HP:0002540	Inability to walk			-	mim2gene	OMIM:103050
158	ADSL	HP:0006808	Cerebral hypomyelination			-	mim2gene	OMIM:103050
158	ADSL	HP:0001510	Growth delay			-	mim2gene	OMIM:103050
158	ADSL	HP:0000463	Anteverted nares			-	mim2gene	OMIM:103050
158	ADSL	HP:0003593	Infantile onset			-	mim2gene	OMIM:103050
158	ADSL	HP:0000369	Low-set ears			-	mim2gene	OMIM:103050
158	ADSL	HP:0040082	Happy demeanor		HP:0040283	-	mim2gene	OMIM:103050
158	ADSL	HP:0000718	Aggressive behavior			-	mim2gene	OMIM:103050
158	ADSL	HP:0001290	Generalized hypotonia			-	mim2gene	OMIM:103050
158	ADSL	HP:0000748	Inappropriate laughter			-	mim2gene	OMIM:103050
158	ADSL	HP:0001249	Intellectual disability			-	mim2gene	OMIM:103050
158	ADSL	HP:0001263	Global developmental delay			-	mim2gene	OMIM:103050
123041	SLC24A4	HP:0000670	Carious teeth			-	mim2gene	OMIM:615887
123041	SLC24A4	HP:0000705	Amelogenesis imperfecta			-	mim2gene	OMIM:615887
123041	SLC24A4	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:615887
57505	AARS2	HP:0002089	Pulmonary hypoplasia			-	mim2gene	OMIM:614096
57505	AARS2	HP:0002353	EEG abnormality			-	mim2gene	OMIM:614096
57505	AARS2	HP:0003128	Lactic acidosis			-	mim2gene	OMIM:614096
57505	AARS2	HP:0001522	Death in infancy			-	mim2gene	OMIM:614096
57505	AARS2	HP:0001639	Hypertrophic cardiomyopathy			-	mim2gene	OMIM:614096
57505	AARS2	HP:0002151	Increased serum lactate			-	mim2gene	OMIM:614096
57505	AARS2	HP:0001508	Failure to thrive			-	mim2gene	OMIM:614096
57505	AARS2	HP:0003324	Generalized muscle weakness			-	mim2gene	OMIM:614096
57505	AARS2	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:614096
57505	AARS2	HP:0001337	Tremor			-	mim2gene	OMIM:615889
57505	AARS2	HP:0001251	Ataxia			-	mim2gene	OMIM:615889
57505	AARS2	HP:0001332	Dystonia			-	mim2gene	OMIM:615889
57505	AARS2	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:615889
57505	AARS2	HP:0002180	Neurodegeneration			-	mim2gene	OMIM:615889
57505	AARS2	HP:0000639	Nystagmus			-	mim2gene	OMIM:615889
57505	AARS2	HP:0001260	Dysarthria			-	mim2gene	OMIM:615889
57505	AARS2	HP:0000716	Depressivity			-	mim2gene	OMIM:615889
57505	AARS2	HP:0001257	Spasticity			-	mim2gene	OMIM:615889
57505	AARS2	HP:0002371	Loss of speech			-	mim2gene	OMIM:615889
57505	AARS2	HP:0001272	Cerebellar atrophy		HP:0040283	-	mim2gene	OMIM:615889
57505	AARS2	HP:0000726	Dementia			-	mim2gene	OMIM:615889
57505	AARS2	HP:0006970	Periventricular leukomalacia			-	mim2gene	OMIM:615889
57505	AARS2	HP:0008209	Premature ovarian insufficiency			-	mim2gene	OMIM:615889
57505	AARS2	HP:0002186	Apraxia			-	mim2gene	OMIM:615889
57505	AARS2	HP:0003676	Progressive			-	mim2gene	OMIM:615889
57505	AARS2	HP:0006980	Progressive leukoencephalopathy			-	mim2gene	OMIM:615889
162	AP1B1	HP:0000545	Myopia			-	mim2gene	OMIM:242150
162	AP1B1	HP:0001394	Cirrhosis			-	mim2gene	OMIM:242150
162	AP1B1	HP:0004322	Short stature			-	mim2gene	OMIM:242150
162	AP1B1	HP:0008064	Ichthyosis			-	mim2gene	OMIM:242150
162	AP1B1	HP:0000509	Conjunctivitis			-	mim2gene	OMIM:242150
162	AP1B1	HP:0000563	Keratoconus			-	mim2gene	OMIM:242150
162	AP1B1	HP:0001508	Failure to thrive			-	mim2gene	OMIM:242150
162	AP1B1	HP:0001596	Alopecia			-	mim2gene	OMIM:242150
162	AP1B1	HP:0001808	Fragile nails			-	mim2gene	OMIM:242150
162	AP1B1	HP:0000407	Sensorineural hearing impairment			-	mim2gene	OMIM:242150
162	AP1B1	HP:0000633	Decreased lacrimation			-	mim2gene	OMIM:242150
162	AP1B1	HP:0001249	Intellectual disability			-	mim2gene	OMIM:242150
162	AP1B1	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:242150
162	AP1B1	HP:0000613	Photophobia			-	mim2gene	OMIM:242150
162	AP1B1	HP:0001019	Erythroderma			-	mim2gene	OMIM:242150
286887	KRT6C	HP:0000982	Palmoplantar keratoderma			-	mim2gene	OMIM:615735
286887	KRT6C	HP:0025092	Epidermal acanthosis			-	mim2gene	OMIM:615735
286887	KRT6C	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:615735
165	AEBP1	HP:0000465	Webbed neck			-	mim2gene	OMIM:618000
165	AEBP1	HP:0000978	Bruising susceptibility			-	mim2gene	OMIM:618000
165	AEBP1	HP:0001488	Bilateral ptosis			-	mim2gene	OMIM:618000
165	AEBP1	HP:0002162	Low posterior hairline			-	mim2gene	OMIM:618000
165	AEBP1	HP:0001582	Redundant skin			-	mim2gene	OMIM:618000
165	AEBP1	HP:0000974	Hyperextensible skin			-	mim2gene	OMIM:618000
165	AEBP1	HP:0002933	Ventral hernia			-	mim2gene	OMIM:618000
165	AEBP1	HP:0001822	Hallux valgus			-	mim2gene	OMIM:618000
165	AEBP1	HP:0003834	Shoulder dislocation			-	mim2gene	OMIM:618000
165	AEBP1	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:618000
165	AEBP1	HP:0000939	Osteoporosis			-	mim2gene	OMIM:618000
165	AEBP1	HP:0000218	High palate			-	mim2gene	OMIM:618000
165	AEBP1	HP:0004976	Knee dislocation			-	mim2gene	OMIM:618000
165	AEBP1	HP:0001075	Atrophic scars			-	mim2gene	OMIM:618000
165	AEBP1	HP:0000023	Inguinal hernia			-	mim2gene	OMIM:618000
165	AEBP1	HP:0002758	Osteoarthritis			-	mim2gene	OMIM:618000
165	AEBP1	HP:0000400	Macrotia			-	mim2gene	OMIM:618000
165	AEBP1	HP:0002827	Hip dislocation			-	mim2gene	OMIM:618000
165	AEBP1	HP:0100658	Cellulitis			-	mim2gene	OMIM:618000
165	AEBP1	HP:0001537	Umbilical hernia			-	mim2gene	OMIM:618000
165	AEBP1	HP:0001763	Pes planus			-	mim2gene	OMIM:618000
165	AEBP1	HP:0002943	Thoracic scoliosis			-	mim2gene	OMIM:618000
165	AEBP1	HP:0001634	Mitral valve prolapse			-	mim2gene	OMIM:618000
165	AEBP1	HP:0045074	Thin eyebrow			-	mim2gene	OMIM:618000
165	AEBP1	HP:0000470	Short neck			-	mim2gene	OMIM:618000
165	AEBP1	HP:0000347	Micrognathia			-	mim2gene	OMIM:618000
165	AEBP1	HP:0003177	Squared iliac bones			-	mim2gene	OMIM:618000
165	AEBP1	HP:0025232	Bursitis			-	mim2gene	OMIM:618000
165	AEBP1	HP:0000028	Cryptorchidism			-	mim2gene	OMIM:618000
57511	COG6	HP:0000750	Delayed speech and language development			-	mim2gene	OMIM:615328
57511	COG6	HP:0000972	Palmoplantar hyperkeratosis			-	mim2gene	OMIM:615328
57511	COG6	HP:0003577	Congenital onset			-	mim2gene	OMIM:615328
57511	COG6	HP:0000252	Microcephaly		HP:0040283	-	mim2gene	OMIM:615328
57511	COG6	HP:0000670	Carious teeth			-	mim2gene	OMIM:615328
57511	COG6	HP:0001249	Intellectual disability			-	mim2gene	OMIM:615328
57511	COG6	HP:0000966	Hypohidrosis			-	mim2gene	OMIM:615328
57511	COG6	HP:0006297	Hypoplasia of dental enamel			-	mim2gene	OMIM:615328
57511	COG6	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:615328
57511	COG6	HP:0004313	Decreased antibody level in blood		HP:0040283	-	mim2gene	OMIM:614576
57511	COG6	HP:0002904	Hyperbilirubinemia			-	mim2gene	OMIM:614576
57511	COG6	HP:0002721	Immunodeficiency			-	mim2gene	OMIM:614576
57511	COG6	HP:0100259	Postaxial polydactyly		HP:0040283	-	mim2gene	OMIM:614576
57511	COG6	HP:0001508	Failure to thrive			-	mim2gene	OMIM:614576
57511	COG6	HP:0001396	Cholestasis			-	mim2gene	OMIM:614576
57511	COG6	HP:0000962	Hyperkeratosis			-	mim2gene	OMIM:614576
57511	COG6	HP:0002240	Hepatomegaly		HP:0040283	-	mim2gene	OMIM:614576
57511	COG6	HP:0001249	Intellectual disability			-	mim2gene	OMIM:614576
57511	COG6	HP:0001873	Thrombocytopenia			-	mim2gene	OMIM:614576
57511	COG6	HP:0001290	Generalized hypotonia			-	mim2gene	OMIM:614576
57511	COG6	HP:0001511	Intrauterine growth retardation			-	mim2gene	OMIM:614576
57511	COG6	HP:0002059	Cerebral atrophy			-	mim2gene	OMIM:614576
57511	COG6	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:614576
57511	COG6	HP:0001744	Splenomegaly			-	mim2gene	OMIM:614576
57511	COG6	HP:0001876	Pancytopenia			-	mim2gene	OMIM:614576
57511	COG6	HP:0000278	Retrognathia		HP:0040283	-	mim2gene	OMIM:614576
57511	COG6	HP:0008936	Muscular hypotonia of the trunk		HP:0040283	-	mim2gene	OMIM:614576
57511	COG6	HP:0000252	Microcephaly			-	mim2gene	OMIM:614576
57511	COG6	HP:0002028	Chronic diarrhea		HP:0040283	-	mim2gene	OMIM:614576
57511	COG6	HP:0002037	Inflammation of the large intestine		HP:0040283	-	mim2gene	OMIM:614576
57511	COG6	HP:0001403	Macrovesicular hepatic steatosis		HP:0040283	-	mim2gene	OMIM:614576
57511	COG6	HP:0012301	Type II transferrin isoform profile			-	mim2gene	OMIM:614576
57511	COG6	HP:0001903	Anemia			-	mim2gene	OMIM:614576
57511	COG6	HP:0000966	Hypohidrosis			-	mim2gene	OMIM:614576
57511	COG6	HP:0001522	Death in infancy			-	mim2gene	OMIM:614576
57511	COG6	HP:0000114	Proximal tubulopathy		HP:0040283	-	mim2gene	OMIM:614576
57511	COG6	HP:0005435	Impaired T cell function		HP:0040283	-	mim2gene	OMIM:614576
57511	COG6	HP:0001892	Abnormal bleeding			-	mim2gene	OMIM:614576
57511	COG6	HP:0001263	Global developmental delay			-	mim2gene	OMIM:614576
57511	COG6	HP:0007185	Loss of consciousness			-	mim2gene	OMIM:614576
57511	COG6	HP:0001413	Micronodular cirrhosis		HP:0040283	-	mim2gene	OMIM:614576
57511	COG6	HP:0002119	Ventriculomegaly			-	mim2gene	OMIM:614576
57511	COG6	HP:0002719	Recurrent infections		HP:0040283	-	mim2gene	OMIM:614576
57511	COG6	HP:0003577	Congenital onset			-	mim2gene	OMIM:614576
57511	COG6	HP:0002910	Elevated hepatic transaminase		HP:0040283	-	mim2gene	OMIM:614576
57511	COG6	HP:0000286	Epicanthus			-	mim2gene	OMIM:614576
57511	COG6	HP:0001250	Seizures			-	mim2gene	OMIM:614576
57514	ARHGAP31	HP:0002092	Pulmonary arterial hypertension			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0001156	Brachydactyly			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0001596	Alopecia			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0001302	Pachygyria			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0004415	Pulmonary artery stenosis			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0001650	Aortic valve stenosis			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0001770	Toe syndactyly			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0001263	Global developmental delay			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0001762	Talipes equinovarus			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0000822	Hypertension			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0001249	Intellectual disability			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0001647	Bicuspid aortic valve			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0001792	Small nail			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0000565	Esotropia			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0001642	Pulmonic stenosis			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0007589	Aplasia cutis congenita on trunk or limbs			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0000965	Cutis marmorata			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0001250	Seizures			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0001290	Generalized hypotonia			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0001362	Calvarial skull defect			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0000204	Cleft upper lip			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0002126	Polymicrogyria			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0006970	Periventricular leukomalacia			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0001631	Atrial septal defect			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0002539	Cortical dysplasia			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0001636	Tetralogy of Fallot			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0000252	Microcephaly			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0002558	Supernumerary nipple			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0000568	Microphthalmia			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0001252	Muscular hypotonia			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0004383	Hypoplastic left heart			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0030011	Imperforate hymen			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0001629	Ventricular septal defect			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0000175	Cleft palate			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0002079	Hypoplasia of the corpus callosum			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0002119	Ventriculomegaly			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0002084	Encephalocele			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0007590	Aplasia cutis congenita over posterior parietal area			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0002558	Supernumerary nipple			-	mim2gene	OMIM:100300
57514	ARHGAP31	HP:0002040	Esophageal varix		HP:0040283		orphadata	ORPHA:974
57514	ARHGAP31	HP:0001817	Absent fingernail		HP:0040283		orphadata	ORPHA:974
57514	ARHGAP31	HP:0001508	Failure to thrive		HP:0040281		orphadata	ORPHA:974
57514	ARHGAP31	HP:0002612	Congenital hepatic fibrosis		HP:0040283		orphadata	ORPHA:974
57514	ARHGAP31	HP:0006970	Periventricular leukomalacia		HP:0040283		orphadata	ORPHA:974
57514	ARHGAP31	HP:0010624	Aplastic/hypoplastic toenail		HP:0040283		orphadata	ORPHA:974
57514	ARHGAP31	HP:0009882	Short distal phalanx of finger		HP:0040282		orphadata	ORPHA:974
57514	ARHGAP31	HP:0001362	Calvarial skull defect		HP:0040281		orphadata	ORPHA:974
57514	ARHGAP31	HP:0001250	Seizures		HP:0040283		orphadata	ORPHA:974
57514	ARHGAP31	HP:0001249	Intellectual disability		HP:0040283		orphadata	ORPHA:974
57514	ARHGAP31	HP:0001057	Aplasia cutis congenita		HP:0040281		orphadata	ORPHA:974
57514	ARHGAP31	HP:0000486	Strabismus		HP:0040282		orphadata	ORPHA:974
57514	ARHGAP31	HP:0100026	Arteriovenous malformation		HP:0040283		orphadata	ORPHA:974
57514	ARHGAP31	HP:0001269	Hemiparesis		HP:0040283		orphadata	ORPHA:974
57514	ARHGAP31	HP:0000568	Microphthalmia		HP:0040282		orphadata	ORPHA:974
57514	ARHGAP31	HP:0001276	Hypertonia		HP:0040283		orphadata	ORPHA:974
57514	ARHGAP31	HP:0008070	Sparse hair		HP:0040281		orphadata	ORPHA:974
57514	ARHGAP31	HP:0002084	Encephalocele		HP:0040283		orphadata	ORPHA:974
57514	ARHGAP31	HP:0001641	Abnormal pulmonary valve morphology		HP:0040282		orphadata	ORPHA:974
57514	ARHGAP31	HP:0000238	Hydrocephalus		HP:0040282		orphadata	ORPHA:974
57514	ARHGAP31	HP:0001394	Cirrhosis		HP:0040283		orphadata	ORPHA:974
57514	ARHGAP31	HP:0001804	Hypoplastic fingernail		HP:0040283		orphadata	ORPHA:974
57514	ARHGAP31	HP:0004050	Absent hand		HP:0040281		orphadata	ORPHA:974
57514	ARHGAP31	HP:0001541	Ascites		HP:0040283		orphadata	ORPHA:974
57514	ARHGAP31	HP:0001163	Abnormality of the metacarpal bones		HP:0040282		orphadata	ORPHA:974
57514	ARHGAP31	HP:0001156	Brachydactyly		HP:0040282		orphadata	ORPHA:974
57514	ARHGAP31	HP:0006101	Finger syndactyly		HP:0040282		orphadata	ORPHA:974
57514	ARHGAP31	HP:0001596	Alopecia		HP:0040283		orphadata	ORPHA:974
57514	ARHGAP31	HP:0000518	Cataract		HP:0040282		orphadata	ORPHA:974
57514	ARHGAP31	HP:0001622	Premature birth		HP:0040283		orphadata	ORPHA:974
57514	ARHGAP31	HP:0002092	Pulmonary arterial hypertension		HP:0040283		orphadata	ORPHA:974
57514	ARHGAP31	HP:0001171	Split hand		HP:0040282		orphadata	ORPHA:974
57514	ARHGAP31	HP:0001883	Talipes		HP:0040282		orphadata	ORPHA:974
57514	ARHGAP31	HP:0002132	Porencephalic cyst		HP:0040283		orphadata	ORPHA:974
57514	ARHGAP31	HP:0002353	EEG abnormality		HP:0040283		orphadata	ORPHA:974
57514	ARHGAP31	HP:0010760	Absent toe		HP:0040281		orphadata	ORPHA:974
57514	ARHGAP31	HP:0001409	Portal hypertension		HP:0040283		orphadata	ORPHA:974
57514	ARHGAP31	HP:0001873	Thrombocytopenia		HP:0040283		orphadata	ORPHA:974
57514	ARHGAP31	HP:0004935	Pulmonary artery atresia		HP:0040282		orphadata	ORPHA:974
57514	ARHGAP31	HP:0001636	Tetralogy of Fallot		HP:0040282		orphadata	ORPHA:974
57514	ARHGAP31	HP:0002239	Gastrointestinal hemorrhage		HP:0040283		orphadata	ORPHA:974
57514	ARHGAP31	HP:0000965	Cutis marmorata		HP:0040281		orphadata	ORPHA:974
57514	ARHGAP31	HP:0001882	Leukopenia		HP:0040283		orphadata	ORPHA:974
174	AFP	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:615969
174	AFP	HP:0045057	Decreased levels of alpha-fetoprotein			-	mim2gene	OMIM:615969
175	AGA	HP:0001249	Intellectual disability		HP:0040281		orphadata	ORPHA:93
175	AGA	HP:0001537	Umbilical hernia		HP:0040281		orphadata	ORPHA:93
175	AGA	HP:0002650	Scoliosis		HP:0040281		orphadata	ORPHA:93
175	AGA	HP:0000316	Hypertelorism		HP:0040281		orphadata	ORPHA:93
175	AGA	HP:0003103	Abnormal cortical bone morphology		HP:0040282		orphadata	ORPHA:93
175	AGA	HP:0000280	Coarse facial features		HP:0040282		orphadata	ORPHA:93
175	AGA	HP:0000750	Delayed speech and language development		HP:0040281		orphadata	ORPHA:93
175	AGA	HP:0012068	Aspartylglucosaminuria		HP:0040281		orphadata	ORPHA:93
175	AGA	HP:0000389	Chronic otitis media		HP:0040283		orphadata	ORPHA:93
175	AGA	HP:0001763	Pes planus		HP:0040283		orphadata	ORPHA:93
175	AGA	HP:0001369	Arthritis		HP:0040283		orphadata	ORPHA:93
175	AGA	HP:0001387	Joint stiffness		HP:0040283		orphadata	ORPHA:93
175	AGA	HP:0008430	Anterior beaking of lumbar vertebrae		HP:0040282		orphadata	ORPHA:93
175	AGA	HP:0002024	Malabsorption		HP:0040283		orphadata	ORPHA:93
175	AGA	HP:0011276	Vascular skin abnormality		HP:0040283		orphadata	ORPHA:93
175	AGA	HP:0000670	Carious teeth		HP:0040282		orphadata	ORPHA:93
175	AGA	HP:0000053	Macroorchidism		HP:0040282		orphadata	ORPHA:93
175	AGA	HP:0002997	Abnormality of the ulna		HP:0040282		orphadata	ORPHA:93
175	AGA	HP:0001744	Splenomegaly		HP:0040283		orphadata	ORPHA:93
175	AGA	HP:0100660	Dyskinesia		HP:0040281		orphadata	ORPHA:93
175	AGA	HP:0002360	Sleep disturbance		HP:0040283		orphadata	ORPHA:93
175	AGA	HP:0012471	Thick vermilion border		HP:0040281		orphadata	ORPHA:93
175	AGA	HP:0008551	Microtia		HP:0040281		orphadata	ORPHA:93
175	AGA	HP:0002684	Thickened calvaria		HP:0040282		orphadata	ORPHA:93
175	AGA	HP:0100729	Large face		HP:0040281		orphadata	ORPHA:93
175	AGA	HP:0002167	Neurological speech impairment		HP:0040281		orphadata	ORPHA:93
175	AGA	HP:0004337	Abnormality of amino acid metabolism		HP:0040281		orphadata	ORPHA:93
175	AGA	HP:0002240	Hepatomegaly		HP:0040283		orphadata	ORPHA:93
175	AGA	HP:0003196	Short nose		HP:0040281		orphadata	ORPHA:93
175	AGA	HP:0001250	Seizures		HP:0040283		orphadata	ORPHA:93
175	AGA	HP:0000303	Mandibular prognathia		HP:0040281		orphadata	ORPHA:93
175	AGA	HP:0000431	Wide nasal bridge		HP:0040281		orphadata	ORPHA:93
175	AGA	HP:0000023	Inguinal hernia		HP:0040283		orphadata	ORPHA:93
175	AGA	HP:0002750	Delayed skeletal maturation		HP:0040283		orphadata	ORPHA:93
175	AGA	HP:0000158	Macroglossia		HP:0040282		orphadata	ORPHA:93
175	AGA	HP:0000768	Pectus carinatum		HP:0040282		orphadata	ORPHA:93
175	AGA	HP:0000212	Gingival overgrowth		HP:0040281		orphadata	ORPHA:93
175	AGA	HP:0002205	Recurrent respiratory infections		HP:0040283		orphadata	ORPHA:93
175	AGA	HP:0000248	Brachycephaly			-	mim2gene	OMIM:208400
175	AGA	HP:0001922	Vacuolated lymphocytes			-	mim2gene	OMIM:208400
175	AGA	HP:0003304	Spondylolysis			-	mim2gene	OMIM:208400
175	AGA	HP:0001388	Joint laxity			-	mim2gene	OMIM:208400
175	AGA	HP:0000154	Wide mouth			-	mim2gene	OMIM:208400
175	AGA	HP:0000750	Delayed speech and language development			-	mim2gene	OMIM:208400
175	AGA	HP:0002808	Kyphosis			-	mim2gene	OMIM:208400
175	AGA	HP:0012068	Aspartylglucosaminuria			-	mim2gene	OMIM:208400
175	AGA	HP:0005280	Depressed nasal bridge			-	mim2gene	OMIM:208400
175	AGA	HP:0002014	Diarrhea			-	mim2gene	OMIM:208400
175	AGA	HP:0002684	Thickened calvaria			-	mim2gene	OMIM:208400
175	AGA	HP:0001250	Seizures			-	mim2gene	OMIM:208400
175	AGA	HP:0002205	Recurrent respiratory infections			-	mim2gene	OMIM:208400
175	AGA	HP:0002650	Scoliosis			-	mim2gene	OMIM:208400
175	AGA	HP:0003302	Spondylolisthesis			-	mim2gene	OMIM:208400
175	AGA	HP:0000283	Broad face			-	mim2gene	OMIM:208400
175	AGA	HP:0032198	Decreased prothrombin time			-	mim2gene	OMIM:208400
175	AGA	HP:0001071	Angiokeratoma corporis diffusum			-	mim2gene	OMIM:208400
175	AGA	HP:0002750	Delayed skeletal maturation			-	mim2gene	OMIM:208400
175	AGA	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:208400
175	AGA	HP:0000943	Dysostosis multiplex			-	mim2gene	OMIM:208400
175	AGA	HP:0001061	Acne			-	mim2gene	OMIM:208400
175	AGA	HP:0001653	Mitral regurgitation			-	mim2gene	OMIM:208400
175	AGA	HP:0001249	Intellectual disability			-	mim2gene	OMIM:208400
175	AGA	HP:0002240	Hepatomegaly			-	mim2gene	OMIM:208400
175	AGA	HP:0002756	Pathologic fracture			-	mim2gene	OMIM:208400
175	AGA	HP:0001609	Hoarse voice			-	mim2gene	OMIM:208400
175	AGA	HP:0000158	Macroglossia			-	mim2gene	OMIM:208400
175	AGA	HP:0100790	Hernia			-	mim2gene	OMIM:208400
175	AGA	HP:0000280	Coarse facial features			-	mim2gene	OMIM:208400
175	AGA	HP:0001939	Abnormality of metabolism/homeostasis			-	mim2gene	OMIM:208400
175	AGA	HP:0000518	Cataract			-	mim2gene	OMIM:208400
175	AGA	HP:0001290	Generalized hypotonia			-	mim2gene	OMIM:208400
175	AGA	HP:0001875	Neutropenia			-	mim2gene	OMIM:208400
175	AGA	HP:0000252	Microcephaly			-	mim2gene	OMIM:208400
175	AGA	HP:0002376	Developmental regression			-	mim2gene	OMIM:208400
175	AGA	HP:0002738	Hypoplastic frontal sinuses			-	mim2gene	OMIM:208400
175	AGA	HP:0000463	Anteverted nares			-	mim2gene	OMIM:208400
175	AGA	HP:0000926	Platyspondyly			-	mim2gene	OMIM:208400
175	AGA	HP:0000179	Thick lower lip vermilion			-	mim2gene	OMIM:208400
175	AGA	HP:0004568	Beaking of vertebral bodies			-	mim2gene	OMIM:208400
175	AGA	HP:0004322	Short stature			-	mim2gene	OMIM:208400
175	AGA	HP:0000053	Macroorchidism			-	mim2gene	OMIM:208400
175	AGA	HP:0002059	Cerebral atrophy			-	mim2gene	OMIM:208400
175	AGA	HP:0001257	Spasticity			-	mim2gene	OMIM:208400
175	AGA	HP:0001252	Muscular hypotonia			-	mim2gene	OMIM:208400
57520	HECW2	HP:0000938	Osteopenia	3/7		-	mim2gene	OMIM:617268
57520	HECW2	HP:0040288	Nasogastric tube feeding	4/7		-	mim2gene	OMIM:617268
57520	HECW2	HP:0005280	Depressed nasal bridge			-	mim2gene	OMIM:617268
57520	HECW2	HP:0000490	Deeply set eye	3/7		-	mim2gene	OMIM:617268
57520	HECW2	HP:0002059	Cerebral atrophy			-	mim2gene	OMIM:617268
57520	HECW2	HP:0002705	High, narrow palate			-	mim2gene	OMIM:617268
57520	HECW2	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:617268
57520	HECW2	HP:0000574	Thick eyebrow			-	mim2gene	OMIM:617268
57520	HECW2	HP:0000506	Telecanthus			-	mim2gene	OMIM:617268
57520	HECW2	HP:0100716	Self-injurious behavior	2/7		-	mim2gene	OMIM:617268
57520	HECW2	HP:0000179	Thick lower lip vermilion			-	mim2gene	OMIM:617268
57520	HECW2	HP:0000729	Autistic behavior	2/3		-	mim2gene	OMIM:617268
57520	HECW2	HP:0000414	Bulbous nose			-	mim2gene	OMIM:617268
57520	HECW2	HP:0000486	Strabismus	3/7		-	mim2gene	OMIM:617268
57520	HECW2	HP:0001250	Seizures	6/7		-	mim2gene	OMIM:617268
57520	HECW2	HP:0001999	Abnormal facial shape			-	mim2gene	OMIM:617268
57520	HECW2	HP:0002353	EEG abnormality			-	mim2gene	OMIM:617268
57520	HECW2	HP:0011220	Prominent forehead			-	mim2gene	OMIM:617268
57520	HECW2	HP:0011800	Midface retrusion			-	mim2gene	OMIM:617268
57520	HECW2	HP:0000154	Wide mouth			-	mim2gene	OMIM:617268
57520	HECW2	HP:0001290	Generalized hypotonia	7/7		-	mim2gene	OMIM:617268
57520	HECW2	HP:0045075	Sparse eyebrow			-	mim2gene	OMIM:617268
57520	HECW2	HP:0001249	Intellectual disability	4/4		-	mim2gene	OMIM:617268
57520	HECW2	HP:0000639	Nystagmus			-	mim2gene	OMIM:617268
57520	HECW2	HP:0002119	Ventriculomegaly			-	mim2gene	OMIM:617268
57520	HECW2	HP:0000463	Anteverted nares			-	mim2gene	OMIM:617268
57520	HECW2	HP:0100023	Recurrent hand flapping	4/7		-	mim2gene	OMIM:617268
57520	HECW2	HP:0000508	Ptosis	2/7		-	mim2gene	OMIM:617268
57520	HECW2	HP:0031936	Delayed ability to walk			-	mim2gene	OMIM:617268
57520	HECW2	HP:0000286	Epicanthus			-	mim2gene	OMIM:617268
57520	HECW2	HP:0000400	Macrotia			-	mim2gene	OMIM:617268
57520	HECW2	HP:0100704	Cerebral visual impairment	3/7		-	mim2gene	OMIM:617268
57520	HECW2	HP:0001263	Global developmental delay	7/7		-	mim2gene	OMIM:617268
176	ACAN	HP:0005280	Depressed nasal bridge		HP:0040284	-	mim2gene	OMIM:165800
176	ACAN	HP:0002938	Lumbar hyperlordosis		HP:0040284	-	mim2gene	OMIM:165800
176	ACAN	HP:0010055	Broad hallux		HP:0040284	-	mim2gene	OMIM:165800
176	ACAN	HP:0010886	Osteochondritis Dissecans			-	mim2gene	OMIM:165800
176	ACAN	HP:0001156	Brachydactyly		HP:0040284	-	mim2gene	OMIM:165800
176	ACAN	HP:0008843	Hip osteoarthritis			-	mim2gene	OMIM:165800
176	ACAN	HP:0011800	Midface retrusion		HP:0040284	-	mim2gene	OMIM:165800
176	ACAN	HP:0002007	Frontal bossing			-	mim2gene	OMIM:165800
176	ACAN	HP:0002758	Osteoarthritis			-	mim2gene	OMIM:165800
176	ACAN	HP:0001507	Growth abnormality			-	mim2gene	OMIM:165800
176	ACAN	HP:0004322	Short stature			-	mim2gene	OMIM:165800
176	ACAN	HP:0002515	Waddling gait			-	mim2gene	OMIM:165800
176	ACAN	HP:0005616	Accelerated skeletal maturation			-	mim2gene	OMIM:165800
176	ACAN	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:165800
176	ACAN	HP:0009778	Short thumb		HP:0040284	-	mim2gene	OMIM:165800
176	ACAN	HP:0100777	Exostoses			-	mim2gene	OMIM:165800
176	ACAN	HP:0002655	Spondyloepiphyseal dysplasia		HP:0040281		orphadata	ORPHA:93283
176	ACAN	HP:0005930	Abnormality of epiphysis morphology		HP:0040281		orphadata	ORPHA:93283
176	ACAN	HP:0003508	Proportionate short stature		HP:0040281		orphadata	ORPHA:93283
176	ACAN	HP:0000926	Platyspondyly		HP:0040281		orphadata	ORPHA:93283
176	ACAN	HP:0010306	Short thorax		HP:0040281		orphadata	ORPHA:93283
176	ACAN	HP:0002758	Osteoarthritis		HP:0040281		orphadata	ORPHA:93283
176	ACAN	HP:0002983	Micromelia		HP:0040281		orphadata	ORPHA:93283
176	ACAN	HP:0001156	Brachydactyly		HP:0040281		orphadata	ORPHA:171866
176	ACAN	HP:0001552	Barrel-shaped chest		HP:0040281		orphadata	ORPHA:171866
176	ACAN	HP:0005285	Absent nasal bridge		HP:0040281		orphadata	ORPHA:171866
176	ACAN	HP:0003027	Mesomelia		HP:0040281		orphadata	ORPHA:171866
176	ACAN	HP:0004482	Relative macrocephaly		HP:0040281		orphadata	ORPHA:171866
176	ACAN	HP:0001388	Joint laxity		HP:0040281		orphadata	ORPHA:171866
176	ACAN	HP:0000470	Short neck		HP:0040281		orphadata	ORPHA:171866
176	ACAN	HP:0002938	Lumbar hyperlordosis		HP:0040281		orphadata	ORPHA:171866
176	ACAN	HP:0002795	Functional respiratory abnormality		HP:0040282		orphadata	ORPHA:171866
176	ACAN	HP:0000368	Low-set, posteriorly rotated ears		HP:0040281		orphadata	ORPHA:171866
176	ACAN	HP:0011800	Midface retrusion		HP:0040281		orphadata	ORPHA:171866
176	ACAN	HP:0001597	Abnormality of the nail		HP:0040281		orphadata	ORPHA:171866
176	ACAN	HP:0011304	Broad thumb		HP:0040281		orphadata	ORPHA:171866
176	ACAN	HP:0008905	Rhizomelia		HP:0040281		orphadata	ORPHA:171866
176	ACAN	HP:0001609	Hoarse voice		HP:0040282		orphadata	ORPHA:171866
176	ACAN	HP:0000303	Mandibular prognathia		HP:0040281		orphadata	ORPHA:171866
176	ACAN	HP:0007281	Developmental stagnation		HP:0040282		orphadata	ORPHA:435804
176	ACAN	HP:0011800	Midface retrusion		HP:0040282		orphadata	ORPHA:435804
176	ACAN	HP:0002758	Osteoarthritis		HP:0040283		orphadata	ORPHA:435804
176	ACAN	HP:0009778	Short thumb		HP:0040282		orphadata	ORPHA:435804
176	ACAN	HP:0001156	Brachydactyly		HP:0040282		orphadata	ORPHA:435804
176	ACAN	HP:0000470	Short neck	3/3		-	mim2gene	OMIM:612813
176	ACAN	HP:0000926	Platyspondyly			-	mim2gene	OMIM:612813
176	ACAN	HP:0011800	Midface retrusion			-	mim2gene	OMIM:612813
176	ACAN	HP:0001388	Joint laxity	3/3		-	mim2gene	OMIM:612813
176	ACAN	HP:0004482	Relative macrocephaly	3/3		-	mim2gene	OMIM:612813
176	ACAN	HP:0003027	Mesomelia	3/3		-	mim2gene	OMIM:612813
176	ACAN	HP:0001552	Barrel-shaped chest	3/3		-	mim2gene	OMIM:612813
176	ACAN	HP:0000303	Mandibular prognathia	3/3		-	mim2gene	OMIM:612813
176	ACAN	HP:0002938	Lumbar hyperlordosis	3/3		-	mim2gene	OMIM:612813
176	ACAN	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:612813
176	ACAN	HP:0001609	Hoarse voice	2/3		-	mim2gene	OMIM:612813
176	ACAN	HP:0025428	Bronchospasm			-	mim2gene	OMIM:612813
176	ACAN	HP:0009381	Short finger	3/3		-	mim2gene	OMIM:612813
176	ACAN	HP:0001156	Brachydactyly			-	mim2gene	OMIM:612813
176	ACAN	HP:0003016	Metaphyseal widening			-	mim2gene	OMIM:612813
176	ACAN	HP:0005285	Absent nasal bridge	3/3		-	mim2gene	OMIM:612813
176	ACAN	HP:0011304	Broad thumb	3/3		-	mim2gene	OMIM:612813
176	ACAN	HP:0000272	Malar flattening	3/3		-	mim2gene	OMIM:612813
176	ACAN	HP:0002651	Spondyloepimetaphyseal dysplasia			-	mim2gene	OMIM:612813
176	ACAN	HP:0000368	Low-set, posteriorly rotated ears			-	mim2gene	OMIM:612813
176	ACAN	HP:0008905	Rhizomelia	3/3		-	mim2gene	OMIM:612813
176	ACAN	HP:0010582	Irregular epiphyses			-	mim2gene	OMIM:612813
176	ACAN	HP:0002970	Genu varum			question	mim2gene	OMIM:608361
176	ACAN	HP:0002857	Genu valgum			question	mim2gene	OMIM:608361
176	ACAN	HP:0003370	Flat capital femoral epiphysis			question	mim2gene	OMIM:608361
176	ACAN	HP:0000926	Platyspondyly			question	mim2gene	OMIM:608361
176	ACAN	HP:0002655	Spondyloepiphyseal dysplasia			question	mim2gene	OMIM:608361
176	ACAN	HP:0003508	Proportionate short stature			question	mim2gene	OMIM:608361
176	ACAN	HP:0002750	Delayed skeletal maturation			question	mim2gene	OMIM:608361
176	ACAN	HP:0000006	Autosomal dominant inheritance			question	mim2gene	OMIM:608361
178	AGL	HP:0002240	Hepatomegaly			-	mim2gene	OMIM:232400
178	AGL	HP:0005280	Depressed nasal bridge			-	mim2gene	OMIM:232400
178	AGL	HP:0002910	Elevated hepatic transaminase			-	mim2gene	OMIM:232400
178	AGL	HP:0003077	Hyperlipidemia			-	mim2gene	OMIM:232400
178	AGL	HP:0000490	Deeply set eye			-	mim2gene	OMIM:232400
178	AGL	HP:0001714	Ventricular hypertrophy			-	mim2gene	OMIM:232400
178	AGL	HP:0003236	Elevated serum creatine kinase			-	mim2gene	OMIM:232400
178	AGL	HP:0003693	Distal amyotrophy			-	mim2gene	OMIM:232400
178	AGL	HP:0001324	Muscle weakness			-	mim2gene	OMIM:232400
178	AGL	HP:0000233	Thin vermilion border			-	mim2gene	OMIM:232400
178	AGL	HP:0011800	Midface retrusion			-	mim2gene	OMIM:232400
178	AGL	HP:0003198	Myopathy			-	mim2gene	OMIM:232400
178	AGL	HP:0004322	Short stature			-	mim2gene	OMIM:232400
178	AGL	HP:0000219	Thin upper lip vermilion			-	mim2gene	OMIM:232400
178	AGL	HP:0000455	Broad nasal tip			-	mim2gene	OMIM:232400
178	AGL	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:232400
178	AGL	HP:0000272	Malar flattening			-	mim2gene	OMIM:232400
178	AGL	HP:0001395	Hepatic fibrosis			-	mim2gene	OMIM:232400
178	AGL	HP:0001638	Cardiomyopathy			-	mim2gene	OMIM:232400
178	AGL	HP:0001943	Hypoglycemia			-	mim2gene	OMIM:232400
178	AGL	HP:0001943	Hypoglycemia		HP:0040281		orphadata	ORPHA:366
178	AGL	HP:0002721	Immunodeficiency		HP:0040281		orphadata	ORPHA:366
178	AGL	HP:0002155	Hypertriglyceridemia		HP:0040281		orphadata	ORPHA:366
178	AGL	HP:0001256	Intellectual disability, mild		HP:0040281		orphadata	ORPHA:366
178	AGL	HP:0003198	Myopathy		HP:0040282		orphadata	ORPHA:366
178	AGL	HP:0000293	Full cheeks		HP:0040281		orphadata	ORPHA:366
178	AGL	HP:0004322	Short stature		HP:0040281		orphadata	ORPHA:366
57522	SRGAP1	HP:0040198	Non-medullary thyroid carcinoma			susceptibility	mim2gene	OMIM:188470
57522	SRGAP1	HP:0001939	Abnormality of metabolism/homeostasis			susceptibility	mim2gene	OMIM:188470
57522	SRGAP1	HP:0006731	Follicular thyroid carcinoma			susceptibility	mim2gene	OMIM:188470
57522	SRGAP1	HP:0000006	Autosomal dominant inheritance			susceptibility	mim2gene	OMIM:188470
57522	SRGAP1	HP:0001428	Somatic mutation			susceptibility	mim2gene	OMIM:188470
181	AGRP	HP:0000007	Autosomal recessive inheritance			susceptibility	mim2gene	OMIM:601665
181	AGRP	HP:0031819	Increased waist to hip ratio			susceptibility	mim2gene	OMIM:601665
181	AGRP	HP:0000006	Autosomal dominant inheritance			susceptibility	mim2gene	OMIM:601665
181	AGRP	HP:0010982	Polygenic inheritance			susceptibility	mim2gene	OMIM:601665
181	AGRP	HP:0012340	Decreased resting energy expenditure			susceptibility	mim2gene	OMIM:601665
181	AGRP	HP:0001513	Obesity			susceptibility	mim2gene	OMIM:601665
182	JAG1	HP:0000268	Dolichocephaly		HP:0040282		orphadata	ORPHA:3303
182	JAG1	HP:0009891	Underdeveloped supraorbital ridges		HP:0040282		orphadata	ORPHA:3303
182	JAG1	HP:0004467	Preauricular pit		HP:0040282		orphadata	ORPHA:3303
182	JAG1	HP:0004209	Clinodactyly of the 5th finger		HP:0040281		orphadata	ORPHA:3303
182	JAG1	HP:0001156	Brachydactyly		HP:0040281		orphadata	ORPHA:3303
182	JAG1	HP:0001511	Intrauterine growth retardation		HP:0040281		orphadata	ORPHA:3303
182	JAG1	HP:0000337	Broad forehead		HP:0040281		orphadata	ORPHA:3303
182	JAG1	HP:0000028	Cryptorchidism		HP:0040282		orphadata	ORPHA:3303
182	JAG1	HP:0001636	Tetralogy of Fallot		HP:0040282		orphadata	ORPHA:3303
182	JAG1	HP:0000233	Thin vermilion border		HP:0040282		orphadata	ORPHA:3303
182	JAG1	HP:0000520	Proptosis		HP:0040282		orphadata	ORPHA:3303
182	JAG1	HP:0005105	Abnormal nasal morphology		HP:0040281		orphadata	ORPHA:3303
182	JAG1	HP:0005280	Depressed nasal bridge			-	mim2gene	OMIM:118450
182	JAG1	HP:0004617	Butterfly vertebral arch			-	mim2gene	OMIM:118450
182	JAG1	HP:0001394	Cirrhosis			-	mim2gene	OMIM:118450
182	JAG1	HP:0006579	Prolonged neonatal jaundice			-	mim2gene	OMIM:118450
182	JAG1	HP:0000089	Renal hypoplasia			-	mim2gene	OMIM:118450
182	JAG1	HP:0000518	Cataract			-	mim2gene	OMIM:118450
182	JAG1	HP:0000585	Band keratopathy			-	mim2gene	OMIM:118450
182	JAG1	HP:0004969	Peripheral pulmonary artery stenosis			-	mim2gene	OMIM:118450
182	JAG1	HP:0001328	Specific learning disability			-	mim2gene	OMIM:118450
182	JAG1	HP:0000772	Abnormality of the ribs			-	mim2gene	OMIM:118450
182	JAG1	HP:0001680	Coarctation of aorta			-	mim2gene	OMIM:118450
182	JAG1	HP:0001508	Failure to thrive			-	mim2gene	OMIM:118450
182	JAG1	HP:0000097	Focal segmental glomerulosclerosis	2/187		-	mim2gene	OMIM:118450
182	JAG1	HP:0003829	Incomplete penetrance			-	mim2gene	OMIM:118450
182	JAG1	HP:0000545	Myopia			-	mim2gene	OMIM:118450
182	JAG1	HP:0000316	Hypertelorism			-	mim2gene	OMIM:118450
182	JAG1	HP:0000533	Chorioretinal atrophy			-	mim2gene	OMIM:118450
182	JAG1	HP:0001297	Stroke			-	mim2gene	OMIM:118450
182	JAG1	HP:0000582	Upslanted palpebral fissure			-	mim2gene	OMIM:118450
182	JAG1	HP:0001631	Atrial septal defect			-	mim2gene	OMIM:118450
182	JAG1	HP:0001947	Renal tubular acidosis	7/187		-	mim2gene	OMIM:118450
182	JAG1	HP:0006571	Reduced number of intrahepatic bile ducts			-	mim2gene	OMIM:118450
182	JAG1	HP:0001920	Renal artery stenosis	2/187		-	mim2gene	OMIM:118450
182	JAG1	HP:0002155	Hypertriglyceridemia			-	mim2gene	OMIM:118450
182	JAG1	HP:0003189	Long nose			-	mim2gene	OMIM:118450
182	JAG1	HP:0001396	Cholestasis			-	mim2gene	OMIM:118450
182	JAG1	HP:0001492	Axenfeld anomaly			-	mim2gene	OMIM:118450
182	JAG1	HP:0000482	Microcornea			-	mim2gene	OMIM:118450
182	JAG1	HP:0002895	Papillary thyroid carcinoma			-	mim2gene	OMIM:118450
182	JAG1	HP:0003022	Hypoplasia of the ulna			-	mim2gene	OMIM:118450
182	JAG1	HP:0000627	Posterior embryotoxon			-	mim2gene	OMIM:118450
182	JAG1	HP:0000486	Strabismus			-	mim2gene	OMIM:118450
182	JAG1	HP:0003593	Infantile onset			-	mim2gene	OMIM:118450
182	JAG1	HP:0003774	Stage 5 chronic kidney disease	4/187		-	mim2gene	OMIM:118450
182	JAG1	HP:0001629	Ventricular septal defect			-	mim2gene	OMIM:118450
182	JAG1	HP:0002937	Hemivertebrae			-	mim2gene	OMIM:118450
182	JAG1	HP:0000325	Triangular face			-	mim2gene	OMIM:118450
182	JAG1	HP:0000400	Macrotia			-	mim2gene	OMIM:118450
182	JAG1	HP:0001402	Hepatocellular carcinoma			-	mim2gene	OMIM:118450
182	JAG1	HP:0001399	Hepatic failure	38/174		-	mim2gene	OMIM:118450
182	JAG1	HP:0001284	Areflexia			-	mim2gene	OMIM:118450
182	JAG1	HP:0000593	Abnormal anterior chamber morphology			-	mim2gene	OMIM:118450
182	JAG1	HP:0000580	Pigmentary retinopathy			-	mim2gene	OMIM:118450
182	JAG1	HP:0002910	Elevated hepatic transaminase			-	mim2gene	OMIM:118450
182	JAG1	HP:0000490	Deeply set eye			-	mim2gene	OMIM:118450
182	JAG1	HP:0000110	Renal dysplasia	43/187		-	mim2gene	OMIM:118450
182	JAG1	HP:0001738	Exocrine pancreatic insufficiency			-	mim2gene	OMIM:118450
182	JAG1	HP:0000076	Vesicoureteral reflux	6/187		-	mim2gene	OMIM:118450
182	JAG1	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:118450
182	JAG1	HP:0000337	Broad forehead			-	mim2gene	OMIM:118450
182	JAG1	HP:0000081	Duplicated collecting system	2/187		-	mim2gene	OMIM:118450
182	JAG1	HP:0001636	Tetralogy of Fallot			-	mim2gene	OMIM:118450
182	JAG1	HP:0008659	Multiple small medullary renal cysts			-	mim2gene	OMIM:118450
182	JAG1	HP:0001256	Intellectual disability, mild		HP:0040283	-	mim2gene	OMIM:118450
182	JAG1	HP:0003124	Hypercholesterolemia			-	mim2gene	OMIM:118450
182	JAG1	HP:0009882	Short distal phalanx of finger			-	mim2gene	OMIM:118450
182	JAG1	HP:0004209	Clinodactyly of the 5th finger			-	mim2gene	OMIM:187500
182	JAG1	HP:0004467	Preauricular pit			-	mim2gene	OMIM:187500
182	JAG1	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:187500
182	JAG1	HP:0000520	Proptosis			-	mim2gene	OMIM:187500
182	JAG1	HP:0001636	Tetralogy of Fallot			-	mim2gene	OMIM:187500
182	JAG1	HP:0000337	Broad forehead			-	mim2gene	OMIM:187500
57526	PCDH19	HP:0010864	Intellectual disability, severe		HP:0040283		orphadata	ORPHA:101039
57526	PCDH19	HP:0000739	Anxiety		HP:0040282		orphadata	ORPHA:101039
57526	PCDH19	HP:0002187	Intellectual disability, profound		HP:0040283		orphadata	ORPHA:101039
57526	PCDH19	HP:0001270	Motor delay		HP:0040282		orphadata	ORPHA:101039
57526	PCDH19	HP:0100710	Impulsivity		HP:0040283		orphadata	ORPHA:101039
57526	PCDH19	HP:0000722	Obsessive-compulsive behavior		HP:0040282		orphadata	ORPHA:101039
57526	PCDH19	HP:0011169	Generalized clonic seizures		HP:0040282		orphadata	ORPHA:101039
57526	PCDH19	HP:0002133	Status epilepticus		HP:0040282		orphadata	ORPHA:101039
57526	PCDH19	HP:0002342	Intellectual disability, moderate		HP:0040283		orphadata	ORPHA:101039
57526	PCDH19	HP:0040168	Focal seizures, afebril		HP:0040283		orphadata	ORPHA:101039
57526	PCDH19	HP:0010819	Atonic seizure		HP:0040283		orphadata	ORPHA:101039
57526	PCDH19	HP:0010818	Generalized tonic seizures		HP:0040282		orphadata	ORPHA:101039
57526	PCDH19	HP:0011172	Complex febrile seizures		HP:0040283		orphadata	ORPHA:101039
57526	PCDH19	HP:0000709	Psychosis		HP:0040284		orphadata	ORPHA:101039
57526	PCDH19	HP:0001263	Global developmental delay		HP:0040283		orphadata	ORPHA:101039
57526	PCDH19	HP:0007270	Atypical absence seizure		HP:0040283		orphadata	ORPHA:101039
57526	PCDH19	HP:0100738	Abnormal eating behavior		HP:0040284		orphadata	ORPHA:101039
57526	PCDH19	HP:0001256	Intellectual disability, mild		HP:0040283		orphadata	ORPHA:101039
57526	PCDH19	HP:0002123	Generalized myoclonic seizures		HP:0040283		orphadata	ORPHA:101039
57526	PCDH19	HP:0000729	Autistic behavior		HP:0040283		orphadata	ORPHA:101039
57526	PCDH19	HP:0000752	Hyperactivity		HP:0040283		orphadata	ORPHA:101039
57526	PCDH19	HP:0002069	Generalized tonic-clonic seizures		HP:0040282		orphadata	ORPHA:101039
57526	PCDH19	HP:0012433	Abnormal social behavior		HP:0040282		orphadata	ORPHA:101039
57526	PCDH19	HP:0000750	Delayed speech and language development		HP:0040282		orphadata	ORPHA:101039
57526	PCDH19	HP:0000718	Aggressive behavior		HP:0040282		orphadata	ORPHA:101039
57526	PCDH19	HP:0000709	Psychosis			-	mim2gene	OMIM:300088
57526	PCDH19	HP:0001249	Intellectual disability		HP:0040282	-	mim2gene	OMIM:300088
57526	PCDH19	HP:0003593	Infantile onset			-	mim2gene	OMIM:300088
57526	PCDH19	HP:0002123	Generalized myoclonic seizures			-	mim2gene	OMIM:300088
57526	PCDH19	HP:0000718	Aggressive behavior			-	mim2gene	OMIM:300088
57526	PCDH19	HP:0002133	Status epilepticus			-	mim2gene	OMIM:300088
57526	PCDH19	HP:0007359	Focal-onset seizure			-	mim2gene	OMIM:300088
57526	PCDH19	HP:0002069	Generalized tonic-clonic seizures			-	mim2gene	OMIM:300088
57526	PCDH19	HP:0002376	Developmental regression			-	mim2gene	OMIM:300088
57526	PCDH19	HP:0002121	Absence seizure			-	mim2gene	OMIM:300088
57526	PCDH19	HP:0001417	X-linked inheritance			-	mim2gene	OMIM:300088
57526	PCDH19	HP:0001263	Global developmental delay		HP:0040282	-	mim2gene	OMIM:300088
57526	PCDH19	HP:0010819	Atonic seizure			-	mim2gene	OMIM:300088
57526	PCDH19	HP:0002353	EEG abnormality		HP:0040281		orphadata	ORPHA:33069
57526	PCDH19	HP:0000992	Cutaneous photosensitivity		HP:0040281		orphadata	ORPHA:33069
57526	PCDH19	HP:0012758	Neurodevelopmental delay		HP:0040281		orphadata	ORPHA:33069
57526	PCDH19	HP:0025356	Psychomotor retardation		HP:0040281		orphadata	ORPHA:33069
57526	PCDH19	HP:0001251	Ataxia		HP:0040281		orphadata	ORPHA:33069
57526	PCDH19	HP:0002266	Focal clonic seizure		HP:0040281		orphadata	ORPHA:33069
57526	PCDH19	HP:0002123	Generalized myoclonic seizures		HP:0040281		orphadata	ORPHA:33069
57526	PCDH19	HP:0002384	Focal impaired awareness seizure		HP:0040283		orphadata	ORPHA:33069
57526	PCDH19	HP:0007334	Generalized tonic-clonic seizures with focal onset		HP:0040283		orphadata	ORPHA:33069
57526	PCDH19	HP:0001252	Muscular hypotonia		HP:0040282		orphadata	ORPHA:33069
57526	PCDH19	HP:0011151	Obtundation status		HP:0040282		orphadata	ORPHA:33069
57526	PCDH19	HP:0001337	Tremor		HP:0040282		orphadata	ORPHA:33069
57526	PCDH19	HP:0002373	Febrile seizures		HP:0040282		orphadata	ORPHA:33069
183	AGT	HP:0100519	Anuria			-	mim2gene	OMIM:267430
183	AGT	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:267430
183	AGT	HP:0000252	Microcephaly			-	mim2gene	OMIM:267430
183	AGT	HP:0004492	Widely patent fontanelles and sutures			-	mim2gene	OMIM:267430
183	AGT	HP:0001562	Oligohydramnios			-	mim2gene	OMIM:267430
183	AGT	HP:0008660	Renotubular dysgenesis			-	mim2gene	OMIM:267430
183	AGT	HP:0002615	Hypotension			-	mim2gene	OMIM:267430
183	AGT	HP:0002009	Potter facies			-	mim2gene	OMIM:267430
183	AGT	HP:0000079	Abnormality of the urinary system			-	mim2gene	OMIM:267430
183	AGT	HP:0002089	Pulmonary hypoplasia			-	mim2gene	OMIM:267430
183	AGT	HP:0002093	Respiratory insufficiency			-	mim2gene	OMIM:267430
183	AGT	HP:0001426	Multifactorial inheritance			susceptibility	mim2gene	OMIM:145500
183	AGT	HP:0005117	Elevated diastolic blood pressure			susceptibility	mim2gene	OMIM:145500
183	AGT	HP:0004972	Elevated mean arterial pressure			susceptibility	mim2gene	OMIM:145500
183	AGT	HP:0004421	Elevated systolic blood pressure			susceptibility	mim2gene	OMIM:145500
185	AGTR1	HP:0100519	Anuria			-	mim2gene	OMIM:267430
185	AGTR1	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:267430
185	AGTR1	HP:0000252	Microcephaly			-	mim2gene	OMIM:267430
185	AGTR1	HP:0004492	Widely patent fontanelles and sutures			-	mim2gene	OMIM:267430
185	AGTR1	HP:0001562	Oligohydramnios			-	mim2gene	OMIM:267430
185	AGTR1	HP:0008660	Renotubular dysgenesis			-	mim2gene	OMIM:267430
185	AGTR1	HP:0002615	Hypotension			-	mim2gene	OMIM:267430
185	AGTR1	HP:0002009	Potter facies			-	mim2gene	OMIM:267430
185	AGTR1	HP:0000079	Abnormality of the urinary system			-	mim2gene	OMIM:267430
185	AGTR1	HP:0002089	Pulmonary hypoplasia			-	mim2gene	OMIM:267430
185	AGTR1	HP:0002093	Respiratory insufficiency			-	mim2gene	OMIM:267430
185	AGTR1	HP:0001426	Multifactorial inheritance			susceptibility	mim2gene	OMIM:145500
185	AGTR1	HP:0005117	Elevated diastolic blood pressure			susceptibility	mim2gene	OMIM:145500
185	AGTR1	HP:0004972	Elevated mean arterial pressure			susceptibility	mim2gene	OMIM:145500
185	AGTR1	HP:0004421	Elevated systolic blood pressure			susceptibility	mim2gene	OMIM:145500
186	AGTR2	HP:0002465	Poor speech		HP:0040283		orphadata	ORPHA:777
186	AGTR2	HP:0002121	Absence seizure		HP:0040283		orphadata	ORPHA:777
186	AGTR2	HP:0000343	Long philtrum		HP:0040283		orphadata	ORPHA:777
186	AGTR2	HP:0000494	Downslanted palpebral fissures		HP:0040283		orphadata	ORPHA:777
186	AGTR2	HP:0000629	Periorbital fullness		HP:0040283		orphadata	ORPHA:777
186	AGTR2	HP:0008587	Mild neurosensory hearing impairment		HP:0040283		orphadata	ORPHA:777
186	AGTR2	HP:0002245	Meckel diverticulum		HP:0040283		orphadata	ORPHA:777
186	AGTR2	HP:0005280	Depressed nasal bridge		HP:0040283		orphadata	ORPHA:777
186	AGTR2	HP:0002342	Intellectual disability, moderate		HP:0040281		orphadata	ORPHA:777
186	AGTR2	HP:0000455	Broad nasal tip		HP:0040283		orphadata	ORPHA:777
186	AGTR2	HP:0001513	Obesity		HP:0040283		orphadata	ORPHA:777
186	AGTR2	HP:0008504	Moderate sensorineural hearing impairment		HP:0040283		orphadata	ORPHA:777
186	AGTR2	HP:0010864	Intellectual disability, severe		HP:0040283		orphadata	ORPHA:777
186	AGTR2	HP:0012704	Widened subarachnoid space		HP:0040283		orphadata	ORPHA:777
186	AGTR2	HP:0000684	Delayed eruption of teeth		HP:0040283		orphadata	ORPHA:777
186	AGTR2	HP:0006118	Shortening of all distal phalanges of the fingers		HP:0040283		orphadata	ORPHA:777
186	AGTR2	HP:0000256	Macrocephaly		HP:0040283		orphadata	ORPHA:777
186	AGTR2	HP:0000729	Autistic behavior		HP:0040282		orphadata	ORPHA:777
186	AGTR2	HP:0010628	Facial palsy		HP:0040283		orphadata	ORPHA:777
186	AGTR2	HP:0001518	Small for gestational age		HP:0040283		orphadata	ORPHA:777
186	AGTR2	HP:0000219	Thin upper lip vermilion		HP:0040283		orphadata	ORPHA:777
186	AGTR2	HP:0002021	Pyloric stenosis		HP:0040283		orphadata	ORPHA:777
186	AGTR2	HP:0000750	Delayed speech and language development		HP:0040282		orphadata	ORPHA:777
186	AGTR2	HP:0003487	Babinski sign		HP:0040283		orphadata	ORPHA:777
186	AGTR2	HP:0011800	Midface retrusion		HP:0040283		orphadata	ORPHA:777
186	AGTR2	HP:0000020	Urinary incontinence		HP:0040283		orphadata	ORPHA:777
186	AGTR2	HP:0000637	Long palpebral fissure		HP:0040283		orphadata	ORPHA:777
186	AGTR2	HP:0004691	2-3 toe syndactyly		HP:0040283		orphadata	ORPHA:777
186	AGTR2	HP:0002069	Generalized tonic-clonic seizures		HP:0040283		orphadata	ORPHA:777
186	AGTR2	HP:0001763	Pes planus		HP:0040283		orphadata	ORPHA:777
186	AGTR2	HP:0002307	Drooling		HP:0040283		orphadata	ORPHA:777
186	AGTR2	HP:0007018	Attention deficit hyperactivity disorder		HP:0040283		orphadata	ORPHA:777
186	AGTR2	HP:0005824	Clinodactyly of the 2nd toe		HP:0040283		orphadata	ORPHA:777
186	AGTR2	HP:0000179	Thick lower lip vermilion		HP:0040283		orphadata	ORPHA:777
186	AGTR2	HP:0001263	Global developmental delay		HP:0040282		orphadata	ORPHA:777
186	AGTR2	HP:0002187	Intellectual disability, profound		HP:0040283		orphadata	ORPHA:777
57531	HACE1	HP:0004375	Neoplasm of the nervous system		HP:0040281		orphadata	ORPHA:635
57531	HACE1	HP:0011976	Elevated urinary catecholamines		HP:0040281		orphadata	ORPHA:635
57531	HACE1	HP:0008936	Muscular hypotonia of the trunk		HP:0040282		orphadata	ORPHA:464282
57531	HACE1	HP:0002650	Scoliosis		HP:0040282		orphadata	ORPHA:464282
57531	HACE1	HP:0007020	Progressive spastic paraplegia		HP:0040281		orphadata	ORPHA:464282
57531	HACE1	HP:0002827	Hip dislocation		HP:0040282		orphadata	ORPHA:464282
57531	HACE1	HP:0001332	Dystonia		HP:0040282		orphadata	ORPHA:464282
57531	HACE1	HP:0002515	Waddling gait		HP:0040282		orphadata	ORPHA:464282
57531	HACE1	HP:0001260	Dysarthria		HP:0040282		orphadata	ORPHA:464282
57531	HACE1	HP:0002059	Cerebral atrophy		HP:0040283		orphadata	ORPHA:464282
57531	HACE1	HP:0002123	Generalized myoclonic seizures		HP:0040282		orphadata	ORPHA:464282
57531	HACE1	HP:0001249	Intellectual disability		HP:0040282		orphadata	ORPHA:464282
57531	HACE1	HP:0000020	Urinary incontinence		HP:0040283		orphadata	ORPHA:464282
57531	HACE1	HP:0001251	Ataxia		HP:0040282		orphadata	ORPHA:464282
57531	HACE1	HP:0012762	Cerebral white matter atrophy		HP:0040283		orphadata	ORPHA:464282
57531	HACE1	HP:0025313	Exophoria		HP:0040282		orphadata	ORPHA:464282
57531	HACE1	HP:0002808	Kyphosis		HP:0040282		orphadata	ORPHA:464282
57531	HACE1	HP:0000556	Retinal dystrophy		HP:0040282		orphadata	ORPHA:464282
57531	HACE1	HP:0000407	Sensorineural hearing impairment		HP:0040282		orphadata	ORPHA:464282
57531	HACE1	HP:0001263	Global developmental delay		HP:0040281		orphadata	ORPHA:464282
57531	HACE1	HP:0000490	Deeply set eye		HP:0040282		orphadata	ORPHA:464282
57531	HACE1	HP:0004322	Short stature		HP:0040283		orphadata	ORPHA:464282
57531	HACE1	HP:0008373	Puberty and gonadal disorders		HP:0040283		orphadata	ORPHA:464282
57531	HACE1	HP:0000252	Microcephaly		HP:0040283		orphadata	ORPHA:464282
57531	HACE1	HP:0000316	Hypertelorism		HP:0040282		orphadata	ORPHA:464282
57531	HACE1	HP:0002069	Generalized tonic-clonic seizures		HP:0040283		orphadata	ORPHA:464282
57531	HACE1	HP:0031087	Absent pubertal growth spurt		HP:0040282		orphadata	ORPHA:464282
57531	HACE1	HP:0002317	Unsteady gait		HP:0040282		orphadata	ORPHA:464282
57531	HACE1	HP:0001513	Obesity		HP:0040283		orphadata	ORPHA:464282
57531	HACE1	HP:0002079	Hypoplasia of the corpus callosum		HP:0040283		orphadata	ORPHA:464282
57531	HACE1	HP:0011166	Focal myoclonic seizures		HP:0040283		orphadata	ORPHA:464282
57531	HACE1	HP:0002714	Downturned corners of mouth		HP:0040282		orphadata	ORPHA:464282
57531	HACE1	HP:0002355	Difficulty walking		HP:0040282		orphadata	ORPHA:464282
57531	HACE1	HP:0011401	Delayed peripheral myelination		HP:0040283		orphadata	ORPHA:464282
57531	HACE1	HP:0010219	Structural foot deformity		HP:0040283		orphadata	ORPHA:464282
57531	HACE1	HP:0000545	Myopia		HP:0040282		orphadata	ORPHA:464282
57531	HACE1	HP:0000750	Delayed speech and language development		HP:0040282		orphadata	ORPHA:464282
57531	HACE1	HP:0002827	Hip dislocation		HP:0040283	-	mim2gene	OMIM:616756
57531	HACE1	HP:0001263	Global developmental delay			-	mim2gene	OMIM:616756
57531	HACE1	HP:0001252	Muscular hypotonia			-	mim2gene	OMIM:616756
57531	HACE1	HP:0001332	Dystonia		HP:0040283	-	mim2gene	OMIM:616756
57531	HACE1	HP:0004322	Short stature		HP:0040283	-	mim2gene	OMIM:616756
57531	HACE1	HP:0002376	Developmental regression			-	mim2gene	OMIM:616756
57531	HACE1	HP:0002515	Waddling gait	3/8		-	mim2gene	OMIM:616756
57531	HACE1	HP:0001251	Ataxia			-	mim2gene	OMIM:616756
57531	HACE1	HP:0012448	Delayed myelination		HP:0040283	-	mim2gene	OMIM:616756
57531	HACE1	HP:0001250	Seizures	5/8		-	mim2gene	OMIM:616756
57531	HACE1	HP:0002123	Generalized myoclonic seizures		HP:0040283	-	mim2gene	OMIM:616756
57531	HACE1	HP:0000252	Microcephaly		HP:0040283	-	mim2gene	OMIM:616756
57531	HACE1	HP:0000407	Sensorineural hearing impairment	3/8		-	mim2gene	OMIM:616756
57531	HACE1	HP:0001513	Obesity		HP:0040283	-	mim2gene	OMIM:616756
57531	HACE1	HP:0002136	Broad-based gait			-	mim2gene	OMIM:616756
57531	HACE1	HP:0000545	Myopia		HP:0040283	-	mim2gene	OMIM:616756
57531	HACE1	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:616756
57531	HACE1	HP:0002540	Inability to walk		HP:0040283	-	mim2gene	OMIM:616756
57531	HACE1	HP:0001762	Talipes equinovarus	2/8		-	mim2gene	OMIM:616756
57531	HACE1	HP:0002061	Lower limb spasticity	6/8		-	mim2gene	OMIM:616756
57531	HACE1	HP:0002059	Cerebral atrophy			-	mim2gene	OMIM:616756
57531	HACE1	HP:0002650	Scoliosis		HP:0040283	-	mim2gene	OMIM:616756
57531	HACE1	HP:0002079	Hypoplasia of the corpus callosum		HP:0040283	-	mim2gene	OMIM:616756
57531	HACE1	HP:0000556	Retinal dystrophy			-	mim2gene	OMIM:616756
57531	HACE1	HP:0002808	Kyphosis		HP:0040283	-	mim2gene	OMIM:616756
57531	HACE1	HP:0002938	Lumbar hyperlordosis			-	mim2gene	OMIM:616756
57531	HACE1	HP:0000486	Strabismus			-	mim2gene	OMIM:616756
57531	HACE1	HP:0001249	Intellectual disability			-	mim2gene	OMIM:616756
57531	HACE1	HP:0001290	Generalized hypotonia			-	mim2gene	OMIM:616756
8379	MAD1L1	HP:0001428	Somatic mutation			-	mim2gene	OMIM:176807
8379	MAD1L1	HP:0012125	Prostate cancer			-	mim2gene	OMIM:176807
8379	MAD1L1	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:176807
189	AGXT	HP:0000787	Nephrolithiasis		HP:0040281		orphadata	ORPHA:93598
189	AGXT	HP:0003761	Calcinosis		HP:0040281		orphadata	ORPHA:93598
189	AGXT	HP:0002621	Atherosclerosis		HP:0040284		orphadata	ORPHA:93598
189	AGXT	HP:0001297	Stroke		HP:0040284		orphadata	ORPHA:93598
189	AGXT	HP:0001508	Failure to thrive		HP:0040282		orphadata	ORPHA:93598
189	AGXT	HP:0000010	Recurrent urinary tract infections		HP:0040283		orphadata	ORPHA:93598
189	AGXT	HP:0001942	Metabolic acidosis		HP:0040281		orphadata	ORPHA:93598
189	AGXT	HP:0100518	Dysuria		HP:0040282		orphadata	ORPHA:93598
189	AGXT	HP:0000121	Nephrocalcinosis		HP:0040281		orphadata	ORPHA:93598
189	AGXT	HP:0000805	Enuresis		HP:0040283		orphadata	ORPHA:93598
189	AGXT	HP:0000924	Abnormality of the skeletal system		HP:0040283		orphadata	ORPHA:93598
189	AGXT	HP:0012213	Decreased glomerular filtration rate		HP:0040282		orphadata	ORPHA:93598
189	AGXT	HP:0000164	Abnormality of the dentition		HP:0040284		orphadata	ORPHA:93598
189	AGXT	HP:0003774	Stage 5 chronic kidney disease		HP:0040283		orphadata	ORPHA:93598
189	AGXT	HP:0011021	Abnormality of circulating enzyme level		HP:0040281		orphadata	ORPHA:93598
189	AGXT	HP:0001903	Anemia		HP:0040281		orphadata	ORPHA:93598
189	AGXT	HP:0000790	Hematuria		HP:0040282		orphadata	ORPHA:93598
189	AGXT	HP:0003159	Hyperoxaluria		HP:0040281		orphadata	ORPHA:93598
189	AGXT	HP:0002756	Pathologic fracture			-	mim2gene	OMIM:259900
189	AGXT	HP:0004950	Peripheral arterial stenosis			-	mim2gene	OMIM:259900
189	AGXT	HP:0030880	Raynaud phenomenon			-	mim2gene	OMIM:259900
189	AGXT	HP:0100758	Gangrene			-	mim2gene	OMIM:259900
189	AGXT	HP:0025520	Calcinosis cutis			-	mim2gene	OMIM:259900
189	AGXT	HP:0025324	Arterial occlusion			-	mim2gene	OMIM:259900
189	AGXT	HP:0011506	Choroidal neovascularization			-	mim2gene	OMIM:259900
189	AGXT	HP:0011001	Increased bone mineral density			-	mim2gene	OMIM:259900
189	AGXT	HP:0030507	Retinal crystals			-	mim2gene	OMIM:259900
189	AGXT	HP:0000488	Retinopathy			-	mim2gene	OMIM:259900
189	AGXT	HP:0001063	Acrocyanosis			-	mim2gene	OMIM:259900
189	AGXT	HP:0000648	Optic atrophy			-	mim2gene	OMIM:259900
189	AGXT	HP:0000965	Cutis marmorata			-	mim2gene	OMIM:259900
189	AGXT	HP:0000790	Hematuria			-	mim2gene	OMIM:259900
189	AGXT	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:259900
189	AGXT	HP:0009830	Peripheral neuropathy			-	mim2gene	OMIM:259900
189	AGXT	HP:0001678	Atrioventricular block			-	mim2gene	OMIM:259900
189	AGXT	HP:0004417	Intermittent claudication			-	mim2gene	OMIM:259900
189	AGXT	HP:0008672	Calcium oxalate nephrolithiasis			-	mim2gene	OMIM:259900
189	AGXT	HP:0001138	Optic neuropathy			-	mim2gene	OMIM:259900
189	AGXT	HP:0000083	Renal insufficiency			-	mim2gene	OMIM:259900
189	AGXT	HP:0002653	Bone pain			-	mim2gene	OMIM:259900
189	AGXT	HP:0003159	Hyperoxaluria			-	mim2gene	OMIM:259900
189	AGXT	HP:0000121	Nephrocalcinosis			-	mim2gene	OMIM:259900
189	AGXT	HP:0001942	Metabolic acidosis			-	mim2gene	OMIM:259900
190	NR0B1	HP:0008193	Primary gonadal insufficiency		HP:0040283		orphadata	ORPHA:251510
190	NR0B1	HP:0000054	Micropenis		HP:0040281		orphadata	ORPHA:251510
190	NR0B1	HP:0000133	Gonadal dysgenesis		HP:0040281		orphadata	ORPHA:251510
190	NR0B1	HP:0000786	Primary amenorrhea		HP:0040281		orphadata	ORPHA:251510
190	NR0B1	HP:0000815	Hypergonadotropic hypogonadism		HP:0040281		orphadata	ORPHA:251510
190	NR0B1	HP:0100779	Urogenital sinus anomaly		HP:0040281		orphadata	ORPHA:251510
190	NR0B1	HP:0000027	Azoospermia		HP:0040281		orphadata	ORPHA:251510
190	NR0B1	HP:0000047	Hypospadias		HP:0040281		orphadata	ORPHA:251510
190	NR0B1	HP:0008232	Elevated circulating follicle stimulating hormone level		HP:0040281		orphadata	ORPHA:251510
190	NR0B1	HP:0000868	Decreased fertility in females		HP:0040281		orphadata	ORPHA:251510
190	NR0B1	HP:0000149	Ovarian gonadoblastoma		HP:0040283		orphadata	ORPHA:251510
190	NR0B1	HP:0002215	Sparse axillary hair		HP:0040281		orphadata	ORPHA:251510
190	NR0B1	HP:0008665	Clitoral hypertrophy		HP:0040281		orphadata	ORPHA:251510
190	NR0B1	HP:0008187	Absence of secondary sex characteristics		HP:0040283		orphadata	ORPHA:251510
190	NR0B1	HP:0008730	Female external genitalia in individual with 46,XY karyotype		HP:0040281		orphadata	ORPHA:251510
190	NR0B1	HP:0008214	Decreased serum estradiol		HP:0040281		orphadata	ORPHA:251510
190	NR0B1	HP:0000939	Osteoporosis		HP:0040281		orphadata	ORPHA:251510
190	NR0B1	HP:0000823	Delayed puberty		HP:0040282		orphadata	ORPHA:251510
190	NR0B1	HP:0008734	Decreased testicular size		HP:0040281		orphadata	ORPHA:251510
190	NR0B1	HP:0000100	Nephrotic syndrome		HP:0040284		orphadata	ORPHA:251510
190	NR0B1	HP:0012244	Abnormal sex determination		HP:0040281		orphadata	ORPHA:251510
190	NR0B1	HP:0000058	Abnormality of the labia		HP:0040281		orphadata	ORPHA:251510
190	NR0B1	HP:0030680	Abnormality of cardiovascular system morphology		HP:0040284		orphadata	ORPHA:251510
190	NR0B1	HP:0002750	Delayed skeletal maturation		HP:0040283		orphadata	ORPHA:251510
190	NR0B1	HP:0000045	Abnormality of the scrotum		HP:0040281		orphadata	ORPHA:251510
190	NR0B1	HP:0010464	Streak ovary		HP:0040281		orphadata	ORPHA:251510
190	NR0B1	HP:0002225	Sparse pubic hair		HP:0040281		orphadata	ORPHA:251510
190	NR0B1	HP:0000028	Cryptorchidism		HP:0040282		orphadata	ORPHA:251510
190	NR0B1	HP:0003251	Male infertility		HP:0040281		orphadata	ORPHA:251510
190	NR0B1	HP:0008726	Hypoplasia of the vagina		HP:0040281		orphadata	ORPHA:251510
190	NR0B1	HP:0000846	Adrenal insufficiency		HP:0040283		orphadata	ORPHA:251510
190	NR0B1	HP:0012870	Vanishing testis		HP:0040281		orphadata	ORPHA:251510
190	NR0B1	HP:0000062	Ambiguous genitalia		HP:0040281		orphadata	ORPHA:251510
190	NR0B1	HP:0000030	Testicular gonadoblastoma		HP:0040283		orphadata	ORPHA:251510
190	NR0B1	HP:0011969	Elevated circulating luteinizing hormone level		HP:0040281		orphadata	ORPHA:251510
190	NR0B1	HP:0000771	Gynecomastia		HP:0040281		orphadata	ORPHA:251510
190	NR0B1	HP:0040171	Decreased serum testosterone level		HP:0040281		orphadata	ORPHA:251510
190	NR0B1	HP:0002667	Nephroblastoma		HP:0040284		orphadata	ORPHA:251510
190	NR0B1	HP:0000062	Ambiguous genitalia		HP:0040281		orphadata	ORPHA:393
190	NR0B1	HP:0000026	Male hypogonadism		HP:0040281		orphadata	ORPHA:393
190	NR0B1	HP:0008734	Decreased testicular size		HP:0040281		orphadata	ORPHA:393
190	NR0B1	HP:0000147	Polycystic ovaries		HP:0040281		orphadata	ORPHA:393
190	NR0B1	HP:0000044	Hypogonadotrophic hypogonadism		HP:0040281		orphadata	ORPHA:242
190	NR0B1	HP:0000037	Male pseudohermaphroditism		HP:0040281		orphadata	ORPHA:242
190	NR0B1	HP:0000147	Polycystic ovaries		HP:0040281		orphadata	ORPHA:242
190	NR0B1	HP:0008715	Testicular dysgenesis		HP:0040281		orphadata	ORPHA:242
190	NR0B1	HP:0001417	X-linked inheritance			-	mim2gene	OMIM:300018
190	NR0B1	HP:0012245	Sex reversal			-	mim2gene	OMIM:300018
190	NR0B1	HP:0000823	Delayed puberty			-	mim2gene	OMIM:300200
190	NR0B1	HP:0000027	Azoospermia			-	mim2gene	OMIM:300200
190	NR0B1	HP:0000826	Precocious puberty			-	mim2gene	OMIM:300200
190	NR0B1	HP:0001508	Failure to thrive			-	mim2gene	OMIM:300200
190	NR0B1	HP:0002902	Hyponatremia			-	mim2gene	OMIM:300200
190	NR0B1	HP:0001944	Dehydration			-	mim2gene	OMIM:300200
190	NR0B1	HP:0008163	Decreased circulating cortisol level			-	mim2gene	OMIM:300200
190	NR0B1	HP:0000028	Cryptorchidism			-	mim2gene	OMIM:300200
190	NR0B1	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:300200
190	NR0B1	HP:0004319	Decreased circulating aldosterone level			-	mim2gene	OMIM:300200
190	NR0B1	HP:0008197	Absence of pubertal development			-	mim2gene	OMIM:300200
190	NR0B1	HP:0001419	X-linked recessive inheritance			-	mim2gene	OMIM:300200
190	NR0B1	HP:0000835	Adrenal hypoplasia			-	mim2gene	OMIM:300200
190	NR0B1	HP:0000953	Hyperpigmentation of the skin			-	mim2gene	OMIM:300200
190	NR0B1	HP:0003560	Muscular dystrophy			-	mim2gene	OMIM:300200
190	NR0B1	HP:0000127	Renal salt wasting			-	mim2gene	OMIM:300200
190	NR0B1	HP:0000044	Hypogonadotrophic hypogonadism			-	mim2gene	OMIM:300200
190	NR0B1	HP:0000798	Oligospermia			-	mim2gene	OMIM:300200
57534	MIB1	HP:0011664	Left ventricular noncompaction cardiomyopathy			-	mim2gene	OMIM:615092
57534	MIB1	HP:0000006	Autosomal dominant inheritance			-	mim2gene	OMIM:615092
57534	MIB1	HP:0030682	Left ventricular noncompaction			-	mim2gene	OMIM:615092
191	AHCY	HP:0003073	Hypoalbuminemia		HP:0040281		orphadata	ORPHA:88618
191	AHCY	HP:0002376	Developmental regression		HP:0040282		orphadata	ORPHA:88618
191	AHCY	HP:0001402	Hepatocellular carcinoma		HP:0040283		orphadata	ORPHA:88618
191	AHCY	HP:0001763	Pes planus		HP:0040283		orphadata	ORPHA:88618
191	AHCY	HP:0003429	CNS hypomyelination		HP:0040282		orphadata	ORPHA:88618
191	AHCY	HP:0000252	Microcephaly		HP:0040283		orphadata	ORPHA:88618
191	AHCY	HP:0012448	Delayed myelination		HP:0040282		orphadata	ORPHA:88618
191	AHCY	HP:0003236	Elevated serum creatine kinase		HP:0040282		orphadata	ORPHA:88618
191	AHCY	HP:0001508	Failure to thrive		HP:0040282		orphadata	ORPHA:88618
191	AHCY	HP:0008151	Prolonged prothrombin time		HP:0040282		orphadata	ORPHA:88618
191	AHCY	HP:0010719	Abnormality of hair texture		HP:0040283		orphadata	ORPHA:88618
191	AHCY	HP:0011996	Elevated coagulation factor V activity		HP:0040282		orphadata	ORPHA:88618
191	AHCY	HP:0001999	Abnormal facial shape		HP:0040282		orphadata	ORPHA:88618
191	AHCY	HP:0002160	Hyperhomocystinemia		HP:0040281		orphadata	ORPHA:88618
191	AHCY	HP:0000736	Short attention span		HP:0040282		orphadata	ORPHA:88618
191	AHCY	HP:0008947	Infantile muscular hypotonia		HP:0040282		orphadata	ORPHA:88618
191	AHCY	HP:0002878	Respiratory failure		HP:0040283		orphadata	ORPHA:88618
191	AHCY	HP:0001263	Global developmental delay		HP:0040282		orphadata	ORPHA:88618
191	AHCY	HP:0002910	Elevated hepatic transaminase		HP:0040281		orphadata	ORPHA:88618
191	AHCY	HP:0002079	Hypoplasia of the corpus callosum		HP:0040282		orphadata	ORPHA:88618
191	AHCY	HP:0007141	Sensorimotor neuropathy		HP:0040283		orphadata	ORPHA:88618
191	AHCY	HP:0001789	Hydrops fetalis		HP:0040282		orphadata	ORPHA:88618
191	AHCY	HP:0001976	Reduced antithrombin III activity		HP:0040282		orphadata	ORPHA:88618
191	AHCY	HP:0008169	Reduced factor VII activity		HP:0040282		orphadata	ORPHA:88618
191	AHCY	HP:0000565	Esotropia		HP:0040282		orphadata	ORPHA:88618
191	AHCY	HP:0003560	Muscular dystrophy		HP:0040282		orphadata	ORPHA:88618
191	AHCY	HP:0001321	Cerebellar hypoplasia		HP:0040282		orphadata	ORPHA:88618
191	AHCY	HP:0011900	Hypofibrinogenemia		HP:0040282		orphadata	ORPHA:88618
191	AHCY	HP:0001510	Growth delay		HP:0040282		orphadata	ORPHA:88618
191	AHCY	HP:0001638	Cardiomyopathy		HP:0040283		orphadata	ORPHA:88618
191	AHCY	HP:0003235	Hypermethioninemia		HP:0040283		orphadata	ORPHA:88618
191	AHCY	HP:0030890	Hyperintensity of cerebral white matter on MRI		HP:0040282		orphadata	ORPHA:88618
191	AHCY	HP:0002421	Poor head control		HP:0040282		orphadata	ORPHA:88618
191	AHCY	HP:0012704	Widened subarachnoid space		HP:0040283		orphadata	ORPHA:88618
191	AHCY	HP:0000164	Abnormality of the dentition		HP:0040283		orphadata	ORPHA:88618
191	AHCY	HP:0012110	Hypoplasia of the pons		HP:0040282		orphadata	ORPHA:88618
191	AHCY	HP:0002119	Ventriculomegaly		HP:0040283		orphadata	ORPHA:88618
191	AHCY	HP:0001508	Failure to thrive			-	mim2gene	OMIM:613752
191	AHCY	HP:0000164	Abnormality of the dentition			-	mim2gene	OMIM:613752
191	AHCY	HP:0001999	Abnormal facial shape			-	mim2gene	OMIM:613752
191	AHCY	HP:0001263	Global developmental delay			-	mim2gene	OMIM:613752
191	AHCY	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:613752
191	AHCY	HP:0001270	Motor delay			-	mim2gene	OMIM:613752
191	AHCY	HP:0003235	Hypermethioninemia			-	mim2gene	OMIM:613752
191	AHCY	HP:0001249	Intellectual disability			-	mim2gene	OMIM:613752
191	AHCY	HP:0001638	Cardiomyopathy			-	mim2gene	OMIM:613752
57538	ALPK3	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:618052
57538	ALPK3	HP:0001657	Prolonged QT interval			-	mim2gene	OMIM:618052
57538	ALPK3	HP:0005180	Tricuspid regurgitation			-	mim2gene	OMIM:618052
57538	ALPK3	HP:0001789	Hydrops fetalis			-	mim2gene	OMIM:618052
57538	ALPK3	HP:0001653	Mitral regurgitation			-	mim2gene	OMIM:618052
57538	ALPK3	HP:0001640	Cardiomegaly			-	mim2gene	OMIM:618052
57539	WDR35	HP:0000639	Nystagmus		HP:0040283		orphadata	ORPHA:1515
57539	WDR35	HP:0000940	Abnormal diaphysis morphology		HP:0040281		orphadata	ORPHA:1515
57539	WDR35	HP:0000774	Narrow chest		HP:0040281		orphadata	ORPHA:1515
57539	WDR35	HP:0000767	Pectus excavatum		HP:0040282		orphadata	ORPHA:1515
57539	WDR35	HP:0001231	Abnormal fingernail morphology		HP:0040281		orphadata	ORPHA:1515
57539	WDR35	HP:0000679	Taurodontia		HP:0040283		orphadata	ORPHA:1515
57539	WDR35	HP:0006101	Finger syndactyly		HP:0040282		orphadata	ORPHA:1515
57539	WDR35	HP:0000232	Everted lower lip vermilion		HP:0040282		orphadata	ORPHA:1515
57539	WDR35	HP:0000545	Myopia		HP:0040283		orphadata	ORPHA:1515
57539	WDR35	HP:0000682	Abnormality of dental enamel		HP:0040283		orphadata	ORPHA:1515
57539	WDR35	HP:0000463	Anteverted nares		HP:0040282		orphadata	ORPHA:1515
57539	WDR35	HP:0008499	High hypermetropia		HP:0040283		orphadata	ORPHA:1515
57539	WDR35	HP:0004209	Clinodactyly of the 5th finger		HP:0040283		orphadata	ORPHA:1515
57539	WDR35	HP:0000268	Dolichocephaly		HP:0040281		orphadata	ORPHA:1515
57539	WDR35	HP:0001156	Brachydactyly		HP:0040281		orphadata	ORPHA:1515
57539	WDR35	HP:0008388	Abnormal toenail morphology		HP:0040281		orphadata	ORPHA:1515
57539	WDR35	HP:0000286	Epicanthus		HP:0040281		orphadata	ORPHA:1515
57539	WDR35	HP:0000691	Microdontia		HP:0040281		orphadata	ORPHA:1515
57539	WDR35	HP:0000944	Abnormality of the metaphysis		HP:0040281		orphadata	ORPHA:1515
57539	WDR35	HP:0000269	Prominent occiput		HP:0040281		orphadata	ORPHA:1515
57539	WDR35	HP:0000668	Hypodontia		HP:0040282		orphadata	ORPHA:1515
57539	WDR35	HP:0002007	Frontal bossing		HP:0040281		orphadata	ORPHA:1515
57539	WDR35	HP:0009882	Short distal phalanx of finger		HP:0040281		orphadata	ORPHA:1515
57539	WDR35	HP:0001363	Craniosynostosis		HP:0040282		orphadata	ORPHA:1515
57539	WDR35	HP:0000601	Hypotelorism		HP:0040282		orphadata	ORPHA:1515
57539	WDR35	HP:0008070	Sparse hair		HP:0040281		orphadata	ORPHA:1515
57539	WDR35	HP:0005692	Joint hyperflexibility		HP:0040282		orphadata	ORPHA:1515
57539	WDR35	HP:0008905	Rhizomelia		HP:0040281		orphadata	ORPHA:1515
57539	WDR35	HP:0000939	Osteoporosis		HP:0040281		orphadata	ORPHA:1515
57539	WDR35	HP:0000107	Renal cyst			-	mim2gene	OMIM:613610
57539	WDR35	HP:0003027	Mesomelia			-	mim2gene	OMIM:613610
57539	WDR35	HP:0005280	Depressed nasal bridge			-	mim2gene	OMIM:613610
57539	WDR35	HP:0008905	Rhizomelia			-	mim2gene	OMIM:613610
57539	WDR35	HP:0000506	Telecanthus			-	mim2gene	OMIM:613610
57539	WDR35	HP:0000773	Short ribs			-	mim2gene	OMIM:613610
57539	WDR35	HP:0006580	Portal fibrosis			-	mim2gene	OMIM:613610
57539	WDR35	HP:0001156	Brachydactyly			-	mim2gene	OMIM:613610
57539	WDR35	HP:0001748	Polysplenia			-	mim2gene	OMIM:613610
57539	WDR35	HP:0000083	Renal insufficiency			-	mim2gene	OMIM:613610
57539	WDR35	HP:0000687	Widely spaced teeth			-	mim2gene	OMIM:613610
57539	WDR35	HP:0000319	Smooth philtrum			-	mim2gene	OMIM:613610
57539	WDR35	HP:0000347	Micrognathia			-	mim2gene	OMIM:613610
57539	WDR35	HP:0001357	Plagiocephaly			-	mim2gene	OMIM:613610
57539	WDR35	HP:0000431	Wide nasal bridge			-	mim2gene	OMIM:613610
57539	WDR35	HP:0011330	Metopic synostosis			-	mim2gene	OMIM:613610
57539	WDR35	HP:0000316	Hypertelorism			-	mim2gene	OMIM:613610
57539	WDR35	HP:0000341	Narrow forehead			-	mim2gene	OMIM:613610
57539	WDR35	HP:0001396	Cholestasis			-	mim2gene	OMIM:613610
57539	WDR35	HP:0002910	Elevated hepatic transaminase			-	mim2gene	OMIM:613610
57539	WDR35	HP:0001408	Bile duct proliferation			-	mim2gene	OMIM:613610
57539	WDR35	HP:0000286	Epicanthus			-	mim2gene	OMIM:613610
57539	WDR35	HP:0001159	Syndactyly			-	mim2gene	OMIM:613610
57539	WDR35	HP:0001363	Craniosynostosis			-	mim2gene	OMIM:613610
57539	WDR35	HP:0001388	Joint laxity			-	mim2gene	OMIM:613610
57539	WDR35	HP:0000268	Dolichocephaly			-	mim2gene	OMIM:613610
57539	WDR35	HP:0001162	Postaxial hand polydactyly			-	mim2gene	OMIM:613610
57539	WDR35	HP:0000888	Horizontal ribs			-	mim2gene	OMIM:613610
57539	WDR35	HP:0000582	Upslanted palpebral fissure			-	mim2gene	OMIM:613610
57539	WDR35	HP:0000348	High forehead			-	mim2gene	OMIM:613610
57539	WDR35	HP:0000023	Inguinal hernia			-	mim2gene	OMIM:613610
57539	WDR35	HP:0000581	Blepharophimosis			-	mim2gene	OMIM:613610
57539	WDR35	HP:0000289	Broad philtrum			-	mim2gene	OMIM:613610
57539	WDR35	HP:0001941	Acidosis			-	mim2gene	OMIM:613610
57539	WDR35	HP:0000973	Cutis laxa			-	mim2gene	OMIM:613610
57539	WDR35	HP:0002240	Hepatomegaly			-	mim2gene	OMIM:613610
57539	WDR35	HP:0045025	Narrow palpebral fissure			-	mim2gene	OMIM:613610
57539	WDR35	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:613610
57539	WDR35	HP:0001655	Patent foramen ovale			-	mim2gene	OMIM:613610
57539	WDR35	HP:0002007	Frontal bossing			-	mim2gene	OMIM:613610
57539	WDR35	HP:0000774	Narrow chest			-	mim2gene	OMIM:613610
57539	WDR35	HP:0000476	Cystic hygroma			-	mim2gene	OMIM:613610
57539	WDR35	HP:0000822	Hypertension			-	mim2gene	OMIM:613610
57539	WDR35	HP:0011800	Midface retrusion			-	mim2gene	OMIM:613610
57539	WDR35	HP:0000218	High palate			-	mim2gene	OMIM:613610
57539	WDR35	HP:0001263	Global developmental delay		HP:0040284	-	mim2gene	OMIM:613610
57539	WDR35	HP:0000278	Retrognathia			-	mim2gene	OMIM:613610
57539	WDR35	HP:0000968	Ectodermal dysplasia			-	mim2gene	OMIM:613610
57539	WDR35	HP:0002676	Cloverleaf skull			-	mim2gene	OMIM:613610
57539	WDR35	HP:0000369	Low-set ears			-	mim2gene	OMIM:613610
57539	WDR35	HP:0001643	Patent ductus arteriosus			-	mim2gene	OMIM:613610
57539	WDR35	HP:0001744	Splenomegaly			-	mim2gene	OMIM:613610
57539	WDR35	HP:0001789	Hydrops fetalis			-	mim2gene	OMIM:613610
57539	WDR35	HP:0000470	Short neck			-	mim2gene	OMIM:613610
57539	WDR35	HP:0001712	Left ventricular hypertrophy			-	mim2gene	OMIM:613610
57539	WDR35	HP:0000232	Everted lower lip vermilion			-	mim2gene	OMIM:613610
57539	WDR35	HP:0000377	Abnormality of the pinna			-	mim2gene	OMIM:613610
57539	WDR35	HP:0002613	Biliary cirrhosis			-	mim2gene	OMIM:613610
57539	WDR35	HP:0008070	Sparse hair			-	mim2gene	OMIM:613610
57539	WDR35	HP:0000293	Full cheeks			-	mim2gene	OMIM:613610
57539	WDR35	HP:0000653	Sparse eyelashes			-	mim2gene	OMIM:613610
57539	WDR35	HP:0001561	Polyhydramnios			-	mim2gene	OMIM:613610
57539	WDR35	HP:0030151	Cholangitis			-	mim2gene	OMIM:613610
57539	WDR35	HP:0000767	Pectus excavatum			-	mim2gene	OMIM:613610
57539	WDR35	HP:0000691	Microdontia			-	mim2gene	OMIM:613610
57539	WDR35	HP:0045075	Sparse eyebrow			-	mim2gene	OMIM:613610
57539	WDR35	HP:0000175	Cleft palate		HP:0040284	-	mim2gene	OMIM:613610
57539	WDR35	HP:0030084	Clinodactyly			-	mim2gene	OMIM:613610
57539	WDR35	HP:0002904	Hyperbilirubinemia			-	mim2gene	OMIM:613610
57539	WDR35	HP:0006349	Agenesis of permanent teeth			-	mim2gene	OMIM:614091
57539	WDR35	HP:0009882	Short distal phalanx of finger			-	mim2gene	OMIM:614091
57539	WDR35	HP:0000218	High palate			-	mim2gene	OMIM:614091
57539	WDR35	HP:0003180	Flat acetabular roof			-	mim2gene	OMIM:614091
57539	WDR35	HP:0000047	Hypospadias			-	mim2gene	OMIM:614091
57539	WDR35	HP:0000774	Narrow chest			-	mim2gene	OMIM:614091
57539	WDR35	HP:0001789	Hydrops fetalis			-	mim2gene	OMIM:614091
57539	WDR35	HP:0002213	Fine hair			-	mim2gene	OMIM:614091
57539	WDR35	HP:0000089	Renal hypoplasia			-	mim2gene	OMIM:614091
57539	WDR35	HP:0002164	Nail dysplasia			-	mim2gene	OMIM:614091
57539	WDR35	HP:0000286	Epicanthus			-	mim2gene	OMIM:614091
57539	WDR35	HP:0011090	Fused teeth			-	mim2gene	OMIM:614091
57539	WDR35	HP:0000200	Short lingual frenulum			-	mim2gene	OMIM:614091
57539	WDR35	HP:0001156	Brachydactyly			-	mim2gene	OMIM:614091
57539	WDR35	HP:0100259	Postaxial polydactyly			-	mim2gene	OMIM:614091
57539	WDR35	HP:0000773	Short ribs			-	mim2gene	OMIM:614091
57539	WDR35	HP:0006644	Thoracic dysplasia			-	mim2gene	OMIM:614091
57539	WDR35	HP:0001541	Ascites			-	mim2gene	OMIM:614091
57539	WDR35	HP:0002089	Pulmonary hypoplasia			-	mim2gene	OMIM:614091
57539	WDR35	HP:0000882	Hypoplastic scapulae			-	mim2gene	OMIM:614091
57539	WDR35	HP:0006487	Bowing of the long bones			-	mim2gene	OMIM:614091
57539	WDR35	HP:0008070	Sparse hair			-	mim2gene	OMIM:614091
57539	WDR35	HP:0010812	Short uvula			-	mim2gene	OMIM:614091
57539	WDR35	HP:0001395	Hepatic fibrosis			-	mim2gene	OMIM:614091
57539	WDR35	HP:0000268	Dolichocephaly			-	mim2gene	OMIM:614091
57539	WDR35	HP:0000113	Polycystic kidney dysplasia			-	mim2gene	OMIM:614091
57539	WDR35	HP:0000691	Microdontia			-	mim2gene	OMIM:614091
57539	WDR35	HP:0003027	Mesomelia			-	mim2gene	OMIM:614091
57539	WDR35	HP:0001159	Syndactyly			-	mim2gene	OMIM:614091
57539	WDR35	HP:0003026	Short long bone			-	mim2gene	OMIM:614091
57539	WDR35	HP:0000107	Renal cyst			-	mim2gene	OMIM:614091
57539	WDR35	HP:0000175	Cleft palate			-	mim2gene	OMIM:614091
57539	WDR35	HP:0000476	Cystic hygroma			-	mim2gene	OMIM:614091
57539	WDR35	HP:0002983	Micromelia			-	mim2gene	OMIM:614091
57539	WDR35	HP:0004322	Short stature			-	mim2gene	OMIM:614091
57539	WDR35	HP:0000007	Autosomal recessive inheritance			-	mim2gene	OMIM:614091
57539	WDR35	HP:0100840	Aplasia/Hypoplasia of the eyebrow			-	mim2gene	OMIM:614091
57539	WDR35	HP:0010442	Polydactyly			-	mim2gene	OMIM:614091
57539	WDR35	HP:0000774	Narrow chest		HP:0040281		orphadata	ORPHA:93271
57539	WDR35	HP:0002032	Esophageal atresia		HP:0040283		orphadata	ORPHA:93271
57539	WDR35	HP:0010297	Bifid tongue		HP:0040283		orphadata	ORPHA:93271
57539	WDR35	HP:0002023	Anal atresia		HP:0040283		orphadata	ORPHA:93271
