TaoMedAI/RareMedData huggingface dataset:
Gene: ACVR1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (OMIM:135100)
Gene: ACVR1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (OMIM:135100)
Gene: ACVR1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Osteochondroma (HP:0030431)
Associated disease: Myositis ossificans progressiva; Fibrodysplasia ossificans progressiva; Stone man syndrome; FOP (ORPHA:337)
Gene: ACVR1
Phenotype: Abnormal hallux morphology (HP:0001844)
Associated disease: Myositis ossificans progressiva; Fibrodysplasia ossificans progressiva; Stone man syndrome; FOP (ORPHA:337)
Gene: ACVR1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACVR1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Hallux valgus (HP:0001822)
Associated disease: Myositis ossificans progressiva; Fibrodysplasia ossificans progressiva; Stone man syndrome; FOP (ORPHA:337)
Gene: ACVR1
Phenotype: Hallux valgus (HP:0001822)
Associated disease: FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (OMIM:135100)
Gene: ACVR1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Myositis ossificans progressiva; Fibrodysplasia ossificans progressiva; Stone man syndrome; FOP (ORPHA:337)
Gene: ACVR1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ACVR1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ACVR1B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PANCREATIC CANCER (OMIM:260350)
Gene: ACVR1B
Phenotype: Increased level of L-fucose in urine (HP:0410067)
Associated disease: PANCREATIC CANCER (OMIM:260350)
Gene: ACVR1B
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: PANCREATIC CANCER (OMIM:260350)
Gene: ACVR1B
Phenotype: Adult onset (HP:0003581)
Associated disease: PANCREATIC CANCER (OMIM:260350)
Gene: ACVR1B
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: PANCREATIC CANCER (OMIM:260350)
Gene: ACVR2B
Phenotype: Right aortic arch (HP:0012020)
Associated disease: HETEROTAXY, VISCERAL, 4, AUTOSOMAL (OMIM:613751)
Gene: ACVR2B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ACVR2B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HETEROTAXY, VISCERAL, 4, AUTOSOMAL (OMIM:613751)
Gene: ACVR2B
Phenotype: Ectopia of the spleen (HP:0010452)
Associated disease: HETEROTAXY, VISCERAL, 4, AUTOSOMAL (OMIM:613751)
Gene: ACVR2B
Phenotype: Congenital onset (HP:0003577)
Associated disease: HETEROTAXY, VISCERAL, 4, AUTOSOMAL (OMIM:613751)
Gene: ACVR2B
Phenotype: Bilateral superior vena cava (HP:0033379)
Associated disease: HETEROTAXY, VISCERAL, 4, AUTOSOMAL (OMIM:613751)
Gene: ACVR2B
Phenotype: Pulmonary artery atresia (HP:0004935)
Associated disease: HETEROTAXY, VISCERAL, 4, AUTOSOMAL (OMIM:613751)
Gene: ACVR2B
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ACVR2B
Phenotype: Midline liver (HP:0034188)
Associated disease: HETEROTAXY, VISCERAL, 4, AUTOSOMAL (OMIM:613751)
Gene: ACVR2B
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ACVR2B
Phenotype: Common atrium (HP:0011565)
Associated disease: HETEROTAXY, VISCERAL, 4, AUTOSOMAL (OMIM:613751)
Gene: ACVR2B
Phenotype: Interrupted inferior vena cava with azygous continuation (HP:0011671)
Associated disease: HETEROTAXY, VISCERAL, 4, AUTOSOMAL (OMIM:613751)
Gene: ACVR2B
Phenotype: Dextrotransposition of the great arteries (HP:0031348)
Associated disease: HETEROTAXY, VISCERAL, 4, AUTOSOMAL (OMIM:613751)
Gene: ACVR2B
Phenotype: Total anomalous pulmonary venous return (HP:0005160)
Associated disease: HETEROTAXY, VISCERAL, 4, AUTOSOMAL (OMIM:613751)
Gene: ACVR2B
Phenotype: Complete atrioventricular canal defect (HP:0001674)
Associated disease: HETEROTAXY, VISCERAL, 4, AUTOSOMAL (OMIM:613751)
Gene: ACVR2B
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: HETEROTAXY, VISCERAL, 4, AUTOSOMAL (OMIM:613751)
Gene: ACVR2B
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ACVR2B
Phenotype: Dextrocardia (HP:0001651)
Associated disease: HETEROTAXY, VISCERAL, 4, AUTOSOMAL (OMIM:613751)
Gene: ACVR2B
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: HETEROTAXY, VISCERAL, 4, AUTOSOMAL (OMIM:613751)
Gene: ACVR2B
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ACVR2B
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: HETEROTAXY, VISCERAL, 4, AUTOSOMAL (OMIM:613751)
Gene: ACVR2B
Phenotype: Polysplenia (HP:0001748)
Associated disease: HETEROTAXY, VISCERAL, 4, AUTOSOMAL (OMIM:613751)
Gene: ACVR2B
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ACVRL1
Phenotype: Cerebral arteriovenous malformation (HP:0002408)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Gene: ACVRL1
Phenotype: Cerebral arteriovenous malformation (HP:0002408)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ACVRL1
Phenotype: Seizure (HP:0001250)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ACVRL1
Phenotype: Seizure (HP:0001250)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Gene: ACVRL1
Phenotype: Nail bed telangiectasia (HP:0001232)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Gene: ACVRL1
Phenotype: Hematochezia (HP:0002573)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Gene: ACVRL1
Phenotype: Fingerpad telangiectases (HP:0006107)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Gene: ACVRL1
Phenotype: Palmar telangiectasia (HP:0100869)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Gene: ACVRL1
Phenotype: Facial telangiectasia (HP:0007380)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Gene: ACVRL1
Phenotype: Clubbing (HP:0001217)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Gene: ACVRL1
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ACVRL1
Phenotype: Cirrhosis (HP:0001394)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Gene: ACVRL1
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ACVRL1
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Gene: ACVRL1
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ACVRL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Gene: ACVRL1
Phenotype: Gastrointestinal arteriovenous malformation (HP:0002629)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Gene: ACVRL1
Phenotype: Gastrointestinal arteriovenous malformation (HP:0002629)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ACVRL1
Phenotype: Gastrointestinal telangiectasia (HP:0002604)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Gene: ACVRL1
Phenotype: Palate telangiectasia (HP:0002707)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Gene: ACVRL1
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ACVRL1
Phenotype: Dyspnea (HP:0002094)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Gene: ACVRL1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Gene: ACVRL1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ACVRL1
Phenotype: Migraine (HP:0002076)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Gene: ACVRL1
Phenotype: Migraine (HP:0002076)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ACVRL1
Phenotype: Esophageal varix (HP:0002040)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ACVRL1
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ACVRL1
Phenotype: Mucosal telangiectasiae (HP:0100579)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ACVRL1
Phenotype: Ischemic stroke (HP:0002140)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Gene: ACVRL1
Phenotype: Subarachnoid hemorrhage (HP:0002138)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Gene: ACVRL1
Phenotype: Subarachnoid hemorrhage (HP:0002138)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ACVRL1
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ACVRL1
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ACVRL1
Phenotype: Melena (HP:0002249)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Gene: ACVRL1
Phenotype: Hematemesis (HP:0002248)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Gene: ACVRL1
Phenotype: Pulmonary embolism (HP:0002204)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ACVRL1
Phenotype: Peripheral arteriovenous fistula (HP:0100784)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ACVRL1
Phenotype: Visceral angiomatosis (HP:0100761)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ACVRL1
Phenotype: Spinal arteriovenous malformation (HP:0002390)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Gene: ACVRL1
Phenotype: Telangiectasia (HP:0001009)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ACVRL1
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Gene: ACVRL1
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ACVRL1
Phenotype: Abnormal cerebral vascular morphology (HP:0100659)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ACVRL1
Phenotype: Intestinal polyposis (HP:0200008)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ACVRL1
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ACVRL1
Phenotype: Anemia (HP:0001903)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Gene: ACVRL1
Phenotype: Anemia (HP:0001903)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ACVRL1
Phenotype: Polycythemia (HP:0001901)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Gene: ACVRL1
Phenotype: Choriocapillaris atrophy (HP:0030491)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Gene: ACVRL1
Phenotype: Arteriovenous malformation (HP:0100026)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ACVRL1
Phenotype: Spontaneous, recurrent epistaxis (HP:0004406)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Gene: ACVRL1
Phenotype: Spontaneous, recurrent epistaxis (HP:0004406)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ACVRL1
Phenotype: Hypertension (HP:0000822)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Gene: ACVRL1
Phenotype: Cyanosis (HP:0000961)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Gene: ACVRL1
Phenotype: Retinal telangiectasia (HP:0007763)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ACVRL1
Phenotype: Lip telangiectasia (HP:0000214)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Gene: ACVRL1
Phenotype: Lip telangiectasia (HP:0000214)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ACVRL1
Phenotype: Oral cavity telangiectasia (HP:0000228)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Gene: ACVRL1
Phenotype: Tongue telangiectasia (HP:0000227)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Gene: ACVRL1
Phenotype: Tongue telangiectasia (HP:0000227)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ACVRL1
Phenotype: Brain abscess (HP:0030049)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Gene: ACVRL1
Phenotype: Abnormal cardiovascular system physiology (HP:0011025)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ACVRL1
Phenotype: Hepatic arteriovenous malformation (HP:0006574)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Gene: ACVRL1
Phenotype: Hepatic arteriovenous malformation (HP:0006574)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ACVRL1
Phenotype: Pulmonary arteriovenous malformation (HP:0006548)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Gene: ACVRL1
Phenotype: Pulmonary arteriovenous malformation (HP:0006548)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ACVRL1
Phenotype: Right-to-left shunt (HP:0001694)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Gene: ACVRL1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ACVRL1
Phenotype: Gastrointestinal angiodysplasia (HP:0000471)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Gene: ACVRL1
Phenotype: Nasal mucosa telangiectasia (HP:0000434)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Gene: ACVRL1
Phenotype: Nasal mucosa telangiectasia (HP:0000434)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ACVRL1
Phenotype: Epistaxis (HP:0000421)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ACVRL1
Phenotype: Conjunctival telangiectasia (HP:0000524)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Gene: ACVRL1
Phenotype: Conjunctival telangiectasia (HP:0000524)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ACY1
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Aminoacylase 1 deficiency; N-acyl-aliphatic-L-amino acid amidohydrolase deficiency; ACY1D; N-acyl-L-amino acid amidohydrolase deficiency (ORPHA:137754)
Gene: ACY1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: AMINOACYLASE 1 DEFICIENCY (OMIM:609924)
Gene: ACY1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: AMINOACYLASE 1 DEFICIENCY (OMIM:609924)
Gene: ACY1
Phenotype: Seizure (HP:0001250)
Associated disease: Aminoacylase 1 deficiency; N-acyl-aliphatic-L-amino acid amidohydrolase deficiency; ACY1D; N-acyl-L-amino acid amidohydrolase deficiency (ORPHA:137754)
Gene: ACY1
Phenotype: Seizure (HP:0001250)
Associated disease: AMINOACYLASE 1 DEFICIENCY (OMIM:609924)
Gene: ACY1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Aminoacylase 1 deficiency; N-acyl-aliphatic-L-amino acid amidohydrolase deficiency; ACY1D; N-acyl-L-amino acid amidohydrolase deficiency (ORPHA:137754)
Gene: ACY1
Phenotype: Hypotonia (HP:0001252)
Associated disease: AMINOACYLASE 1 DEFICIENCY (OMIM:609924)
Gene: ACY1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Aminoacylase 1 deficiency; N-acyl-aliphatic-L-amino acid amidohydrolase deficiency; ACY1D; N-acyl-L-amino acid amidohydrolase deficiency (ORPHA:137754)
Gene: ACY1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: AMINOACYLASE 1 DEFICIENCY (OMIM:609924)
Gene: ACY1
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Aminoacylase 1 deficiency; N-acyl-aliphatic-L-amino acid amidohydrolase deficiency; ACY1D; N-acyl-L-amino acid amidohydrolase deficiency (ORPHA:137754)
Gene: ACY1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: AMINOACYLASE 1 DEFICIENCY (OMIM:609924)
Gene: ACY1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AMINOACYLASE 1 DEFICIENCY (OMIM:609924)
Gene: ACY1
Phenotype: Vomiting (HP:0002013)
Associated disease: Aminoacylase 1 deficiency; N-acyl-aliphatic-L-amino acid amidohydrolase deficiency; ACY1D; N-acyl-L-amino acid amidohydrolase deficiency (ORPHA:137754)
Gene: ACY1
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Aminoacylase 1 deficiency; N-acyl-aliphatic-L-amino acid amidohydrolase deficiency; ACY1D; N-acyl-L-amino acid amidohydrolase deficiency (ORPHA:137754)
Gene: ACY1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: AMINOACYLASE 1 DEFICIENCY (OMIM:609924)
Gene: ACY1
Phenotype: Syringomyelia (HP:0003396)
Associated disease: Aminoacylase 1 deficiency; N-acyl-aliphatic-L-amino acid amidohydrolase deficiency; ACY1D; N-acyl-L-amino acid amidohydrolase deficiency (ORPHA:137754)
Gene: ACY1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: AMINOACYLASE 1 DEFICIENCY (OMIM:609924)
Gene: ACY1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: AMINOACYLASE 1 DEFICIENCY (OMIM:609924)
Gene: ACY1
Phenotype: Apnea (HP:0002104)
Associated disease: Aminoacylase 1 deficiency; N-acyl-aliphatic-L-amino acid amidohydrolase deficiency; ACY1D; N-acyl-L-amino acid amidohydrolase deficiency (ORPHA:137754)
Gene: ACY1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: AMINOACYLASE 1 DEFICIENCY (OMIM:609924)
Gene: ACY1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: AMINOACYLASE 1 DEFICIENCY (OMIM:609924)
Gene: ACY1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: AMINOACYLASE 1 DEFICIENCY (OMIM:609924)
Gene: ACY1
Phenotype: Acute encephalopathy (HP:0006846)
Associated disease: AMINOACYLASE 1 DEFICIENCY (OMIM:609924)
Gene: ACY1
Phenotype: Aplasia/Hypoplasia of the cerebellar vermis (HP:0006817)
Associated disease: Aminoacylase 1 deficiency; N-acyl-aliphatic-L-amino acid amidohydrolase deficiency; ACY1D; N-acyl-L-amino acid amidohydrolase deficiency (ORPHA:137754)
Gene: ACY1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: AMINOACYLASE 1 DEFICIENCY (OMIM:609924)
Gene: ACY1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Aminoacylase 1 deficiency; N-acyl-aliphatic-L-amino acid amidohydrolase deficiency; ACY1D; N-acyl-L-amino acid amidohydrolase deficiency (ORPHA:137754)
Gene: ACY1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: AMINOACYLASE 1 DEFICIENCY (OMIM:609924)
Gene: ACY1
Phenotype: Bradycardia (HP:0001662)
Associated disease: AMINOACYLASE 1 DEFICIENCY (OMIM:609924)
Gene: ACY1
Phenotype: Breech presentation (HP:0001623)
Associated disease: AMINOACYLASE 1 DEFICIENCY (OMIM:609924)
Gene: ACY1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Aminoacylase 1 deficiency; N-acyl-aliphatic-L-amino acid amidohydrolase deficiency; ACY1D; N-acyl-L-amino acid amidohydrolase deficiency (ORPHA:137754)
Gene: ACY1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: AMINOACYLASE 1 DEFICIENCY (OMIM:609924)
Gene: ACY1
Phenotype: Wide nose (HP:0000445)
Associated disease: Aminoacylase 1 deficiency; N-acyl-aliphatic-L-amino acid amidohydrolase deficiency; ACY1D; N-acyl-L-amino acid amidohydrolase deficiency (ORPHA:137754)
Gene: ACY1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: AMINOACYLASE 1 DEFICIENCY (OMIM:609924)
Gene: ADA
Phenotype: Adrenal cortical sclerosis (HP:0034829)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Sepsis (HP:0100806)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: ADA
Phenotype: Motor delay (HP:0001270)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Gene: ADA
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: ADA
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: Severe combined immunodeficiency due to adenosine deaminase deficiency; ADA deficiency; SCID due to adenosine deaminase deficiency (ORPHA:277)
Gene: ADA
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)