TaoMedAI/RareMedData huggingface dataset:
Gene: DDX41
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO (OMIM:616871)
Gene: DDX41
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO (OMIM:616871)
Gene: DDX41
Phenotype: Increased total monocyte count (HP:0012311)
Associated disease: MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO (OMIM:616871)
Gene: DDX41
Phenotype: Erythroid dysplasia (HP:0031688)
Associated disease: MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO (OMIM:616871)
Gene: DDX41
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO (OMIM:616871)
Gene: ANAPC7
Phenotype: Motor delay (HP:0001270)
Associated disease: FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME (OMIM:619699)
Gene: ANAPC7
Phenotype: Hypotonia (HP:0001252)
Associated disease: FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME (OMIM:619699)
Gene: ANAPC7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME (OMIM:619699)
Gene: ANAPC7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME (OMIM:619699)
Gene: ANAPC7
Phenotype: Unilateral ptosis (HP:0007687)
Associated disease: FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME (OMIM:619699)
Gene: ANAPC7
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME (OMIM:619699)
Gene: ANAPC7
Phenotype: Infantile onset (HP:0003593)
Associated disease: FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME (OMIM:619699)
Gene: ANAPC7
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME (OMIM:619699)
Gene: ANAPC7
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME (OMIM:619699)
Gene: ANAPC7
Phenotype: High palate (HP:0000218)
Associated disease: FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME (OMIM:619699)
Gene: ANAPC7
Phenotype: Coronary-pulmonary artery fistula (HP:0025516)
Associated disease: FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME (OMIM:619699)
Gene: ANAPC7
Phenotype: Hearing impairment (HP:0000365)
Associated disease: FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME (OMIM:619699)
Gene: ANAPC7
Phenotype: Micrognathia (HP:0000347)
Associated disease: FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME (OMIM:619699)
Gene: ANAPC7
Phenotype: Hypertelorism (HP:0000316)
Associated disease: FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME (OMIM:619699)
Gene: ANAPC7
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME (OMIM:619699)
Gene: ANAPC7
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME (OMIM:619699)
Gene: ANAPC7
Phenotype: Strabismus (HP:0000486)
Associated disease: FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME (OMIM:619699)
Gene: DCDC2
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: NEPHRONOPHTHISIS 19 (OMIM:616217)
Gene: DCDC2
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: DCDC2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: SCLEROSING CHOLANGITIS, NEONATAL (OMIM:617394)
Gene: DCDC2
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: DCDC2
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: DCDC2
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: DCDC2
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: NEPHRONOPHTHISIS 19 (OMIM:616217)
Gene: DCDC2
Phenotype: Cholestasis (HP:0001396)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: DCDC2
Phenotype: Cholestasis (HP:0001396)
Associated disease: NEPHRONOPHTHISIS 19 (OMIM:616217)
Gene: DCDC2
Phenotype: Cholestasis (HP:0001396)
Associated disease: SCLEROSING CHOLANGITIS, NEONATAL (OMIM:617394)
Gene: DCDC2
Phenotype: Hepatic failure (HP:0001399)
Associated disease: SCLEROSING CHOLANGITIS, NEONATAL (OMIM:617394)
Gene: DCDC2
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: NEPHRONOPHTHISIS 19 (OMIM:616217)
Gene: DCDC2
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: DCDC2
Phenotype: Cirrhosis (HP:0001394)
Associated disease: SCLEROSING CHOLANGITIS, NEONATAL (OMIM:617394)
Gene: DCDC2
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: DCDC2
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: SCLEROSING CHOLANGITIS, NEONATAL (OMIM:617394)
Gene: DCDC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 66 (OMIM:610212)
Gene: DCDC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHRONOPHTHISIS 19 (OMIM:616217)
Gene: DCDC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SCLEROSING CHOLANGITIS, NEONATAL (OMIM:617394)
Gene: DCDC2
Phenotype: Congenital hepatic fibrosis (HP:0002612)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: DCDC2
Phenotype: Biliary cirrhosis (HP:0002613)
Associated disease: SCLEROSING CHOLANGITIS, NEONATAL (OMIM:617394)
Gene: DCDC2
Phenotype: Carotid artery dilatation (HP:0012163)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: DCDC2
Phenotype: Tubular luminal dilatation (HP:0032622)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: DCDC2
Phenotype: Renal corticomedullary cysts (HP:0000108)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: DCDC2
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: DCDC2
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: DCDC2
Phenotype: Portal hypertension (HP:0001409)
Associated disease: SCLEROSING CHOLANGITIS, NEONATAL (OMIM:617394)
Gene: DCDC2
Phenotype: Bile duct proliferation (HP:0001408)
Associated disease: SCLEROSING CHOLANGITIS, NEONATAL (OMIM:617394)
Gene: DCDC2
Phenotype: Bile duct proliferation (HP:0001408)
Associated disease: NEPHRONOPHTHISIS 19 (OMIM:616217)
Gene: DCDC2
Phenotype: Abnormal renal insterstitial morphology (HP:0032581)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: DCDC2
Phenotype: Sclerosing cholangitis (HP:0030991)
Associated disease: SCLEROSING CHOLANGITIS, NEONATAL (OMIM:617394)
Gene: DCDC2
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: SCLEROSING CHOLANGITIS, NEONATAL (OMIM:617394)
Gene: DCDC2
Phenotype: Esophageal varix (HP:0002040)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: DCDC2
Phenotype: Hyperechogenic kidneys (HP:0004719)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: DCDC2
Phenotype: Hyperechogenic kidneys (HP:0004719)
Associated disease: NEPHRONOPHTHISIS 19 (OMIM:616217)
Gene: DCDC2
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEPHRONOPHTHISIS 19 (OMIM:616217)
Gene: DCDC2
Phenotype: Infantile onset (HP:0003593)
Associated disease: SCLEROSING CHOLANGITIS, NEONATAL (OMIM:617394)
Gene: DCDC2
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 66 (OMIM:610212)
Gene: DCDC2
Phenotype: Increased total bilirubin (HP:0003573)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: DCDC2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: NEPHRONOPHTHISIS 19 (OMIM:616217)
Gene: DCDC2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: SCLEROSING CHOLANGITIS, NEONATAL (OMIM:617394)
Gene: DCDC2
Phenotype: Acholic stools (HP:0011985)
Associated disease: SCLEROSING CHOLANGITIS, NEONATAL (OMIM:617394)
Gene: DCDC2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: DCDC2
Phenotype: Progressive (HP:0003676)
Associated disease: SCLEROSING CHOLANGITIS, NEONATAL (OMIM:617394)
Gene: DCDC2
Phenotype: Thickening of the tubular basement membrane (HP:0020132)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: DCDC2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: SCLEROSING CHOLANGITIS, NEONATAL (OMIM:617394)
Gene: DCDC2
Phenotype: Reduced renal corticomedullary differentiation (HP:0005565)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: DCDC2
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: DCDC2
Phenotype: Polydipsia (HP:0001959)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: DCDC2
Phenotype: Anemia (HP:0001903)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: DCDC2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: DCDC2
Phenotype: Agitation (HP:0000713)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: DCDC2
Phenotype: Ductal bile plugs (HP:0034294)
Associated disease: SCLEROSING CHOLANGITIS, NEONATAL (OMIM:617394)
Gene: DCDC2
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: DCDC2
Phenotype: Hepatic bridging fibrosis (HP:0012852)
Associated disease: SCLEROSING CHOLANGITIS, NEONATAL (OMIM:617394)
Gene: DCDC2
Phenotype: Hypertension (HP:0000822)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: DCDC2
Phenotype: Pruritus (HP:0000989)
Associated disease: SCLEROSING CHOLANGITIS, NEONATAL (OMIM:617394)
Gene: DCDC2
Phenotype: Jaundice (HP:0000952)
Associated disease: SCLEROSING CHOLANGITIS, NEONATAL (OMIM:617394)
Gene: DCDC2
Phenotype: Ascites (HP:0001541)
Associated disease: SCLEROSING CHOLANGITIS, NEONATAL (OMIM:617394)
Gene: DCDC2
Phenotype: Ascites (HP:0001541)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: DCDC2
Phenotype: Portal fibrosis (HP:0006580)
Associated disease: SCLEROSING CHOLANGITIS, NEONATAL (OMIM:617394)
Gene: DCDC2
Phenotype: Reduced number of intrahepatic bile ducts (HP:0006571)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: DCDC2
Phenotype: Malformation of the hepatic ductal plate (HP:0006563)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: DCDC2
Phenotype: Malformation of the hepatic ductal plate (HP:0006563)
Associated disease: NEPHRONOPHTHISIS 19 (OMIM:616217)
Gene: DCDC2
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: DCDC2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SCLEROSING CHOLANGITIS, NEONATAL (OMIM:617394)
Gene: DCDC2
Phenotype: Renal interstitial fibrosis (HP:0032948)
Associated disease: NEPHRONOPHTHISIS 19 (OMIM:616217)
Gene: DCDC2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 66 (OMIM:610212)
Gene: DCDC2
Phenotype: Suicidal ideation (HP:0031589)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: DCDC2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: NEPHRONOPHTHISIS 19 (OMIM:616217)
Gene: DCDC2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: SCLEROSING CHOLANGITIS, NEONATAL (OMIM:617394)
Gene: DCDC2
Phenotype: Abnormal urinary electrolyte concentration (HP:0012591)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: DCDC2
Phenotype: Renal atrophy (HP:0012585)
Associated disease: Boichis disease; Nephronophthisis-hepatic fibrosis syndrome; Senior-Boichis syndrome (ORPHA:84081)
Gene: CABP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 93 (OMIM:614899)
Gene: CABP2
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 93 (OMIM:614899)
Gene: CABP2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 93 (OMIM:614899)
Gene: ANKFY1
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ANKFY1
Phenotype: Peritonitis (HP:0002586)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ANKFY1
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ANKFY1
Phenotype: Proteinuria (HP:0000093)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ANKFY1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ANKFY1
Phenotype: Periorbital edema (HP:0100539)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ANKFY1
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ANKFY1
Phenotype: Headache (HP:0002315)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ANKFY1
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ANKFY1
Phenotype: Diffuse mesangial sclerosis (HP:0001967)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ANKFY1
Phenotype: Fever (HP:0001945)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ANKFY1
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ANKFY1
Phenotype: Irritability (HP:0000737)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ANKFY1
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ANKFY1
Phenotype: Edema (HP:0000969)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ANKFY1
Phenotype: Foamy urine (HP:0031504)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ANKFY1
Phenotype: Minimal change glomerulonephritis (HP:0012579)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: HIKESHI
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 13 (OMIM:616881)
Gene: HIKESHI
Phenotype: Hypertonia (HP:0001276)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 13 (OMIM:616881)
Gene: HIKESHI
Phenotype: Ataxia (HP:0001251)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 13 (OMIM:616881)
Gene: HIKESHI
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 13 (OMIM:616881)
Gene: HIKESHI
Phenotype: Spasticity (HP:0001257)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 13 (OMIM:616881)
Gene: HIKESHI
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 13 (OMIM:616881)
Gene: HIKESHI
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 13 (OMIM:616881)
Gene: HIKESHI
Phenotype: Absent speech (HP:0001344)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 13 (OMIM:616881)
Gene: HIKESHI
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 13 (OMIM:616881)
Gene: HIKESHI
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 13 (OMIM:616881)
Gene: HIKESHI
Phenotype: Vomiting (HP:0002013)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 13 (OMIM:616881)
Gene: HIKESHI
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 13 (OMIM:616881)
Gene: HIKESHI
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 13 (OMIM:616881)
Gene: HIKESHI
Phenotype: Clonus (HP:0002169)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 13 (OMIM:616881)
Gene: HIKESHI
Phenotype: Exaggerated startle response (HP:0002267)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 13 (OMIM:616881)
Gene: HIKESHI
Phenotype: Infantile onset (HP:0003593)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 13 (OMIM:616881)
Gene: HIKESHI
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 13 (OMIM:616881)
Gene: HIKESHI
Phenotype: Nystagmus (HP:0000639)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 13 (OMIM:616881)
Gene: HIKESHI
Phenotype: Optic atrophy (HP:0000648)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 13 (OMIM:616881)
Gene: HIKESHI
Phenotype: Irritability (HP:0000737)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 13 (OMIM:616881)
Gene: HIKESHI
Phenotype: Delayed brainstem auditory evoked response conduction time (HP:0004466)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 13 (OMIM:616881)
Gene: HIKESHI
Phenotype: Joint contracture (HP:0034392)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 13 (OMIM:616881)
Gene: HIKESHI
Phenotype: Failure to thrive (HP:0001508)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 13 (OMIM:616881)
Gene: HIKESHI
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 13 (OMIM:616881)
Gene: HIKESHI
Phenotype: Visual impairment (HP:0000505)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 13 (OMIM:616881)
Gene: UFC1
Phenotype: Generalized dystonia (HP:0007325)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Microtia (HP:0008551)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Poor head control (HP:0002421)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Ataxia (HP:0001251)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Myoclonus (HP:0001336)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)