TaoMedAI/RareMedData huggingface dataset:
Gene: BLOC1S6
Phenotype: Abnormal platelet aggregation (HP:0030402)
Associated disease: HERMANSKY-PUDLAK SYNDROME 9 (OMIM:614171)
Gene: BLOC1S6
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: HERMANSKY-PUDLAK SYNDROME 9 (OMIM:614171)
Gene: BLOC1S6
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: HERMANSKY-PUDLAK SYNDROME 9 (OMIM:614171)
Gene: HIBCH
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Methacrylic aciduria; Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency; Valine metabolic defect; HIBCH deficiency (ORPHA:88639)
Gene: HIBCH
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY (OMIM:250620)
Gene: HIBCH
Phenotype: Motor delay (HP:0001270)
Associated disease: Methacrylic aciduria; Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency; Valine metabolic defect; HIBCH deficiency (ORPHA:88639)
Gene: HIBCH
Phenotype: Motor delay (HP:0001270)
Associated disease: 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY (OMIM:250620)
Gene: HIBCH
Phenotype: Head titubation (HP:0002599)
Associated disease: Methacrylic aciduria; Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency; Valine metabolic defect; HIBCH deficiency (ORPHA:88639)
Gene: HIBCH
Phenotype: Head titubation (HP:0002599)
Associated disease: 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY (OMIM:250620)
Gene: HIBCH
Phenotype: Lethargy (HP:0001254)
Associated disease: 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY (OMIM:250620)
Gene: HIBCH
Phenotype: Seizure (HP:0001250)
Associated disease: 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY (OMIM:250620)
Gene: HIBCH
Phenotype: Seizure (HP:0001250)
Associated disease: Methacrylic aciduria; Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency; Valine metabolic defect; HIBCH deficiency (ORPHA:88639)
Gene: HIBCH
Phenotype: Hypotonia (HP:0001252)
Associated disease: 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY (OMIM:250620)
Gene: HIBCH
Phenotype: Hypotonia (HP:0001252)
Associated disease: Methacrylic aciduria; Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency; Valine metabolic defect; HIBCH deficiency (ORPHA:88639)
Gene: HIBCH
Phenotype: Ataxia (HP:0001251)
Associated disease: 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY (OMIM:250620)
Gene: HIBCH
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY (OMIM:250620)
Gene: HIBCH
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Methacrylic aciduria; Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency; Valine metabolic defect; HIBCH deficiency (ORPHA:88639)
Gene: HIBCH
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Methacrylic aciduria; Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency; Valine metabolic defect; HIBCH deficiency (ORPHA:88639)
Gene: HIBCH
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Methacrylic aciduria; Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency; Valine metabolic defect; HIBCH deficiency (ORPHA:88639)
Gene: HIBCH
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Methacrylic aciduria; Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency; Valine metabolic defect; HIBCH deficiency (ORPHA:88639)
Gene: HIBCH
Phenotype: Dystonia (HP:0001332)
Associated disease: Methacrylic aciduria; Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency; Valine metabolic defect; HIBCH deficiency (ORPHA:88639)
Gene: HIBCH
Phenotype: Dystonia (HP:0001332)
Associated disease: 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY (OMIM:250620)
Gene: HIBCH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY (OMIM:250620)
Gene: HIBCH
Phenotype: Myoclonus (HP:0001336)
Associated disease: 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY (OMIM:250620)
Gene: HIBCH
Phenotype: Dysmetria (HP:0001310)
Associated disease: 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY (OMIM:250620)
Gene: HIBCH
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY (OMIM:250620)
Gene: HIBCH
Phenotype: Vomiting (HP:0002013)
Associated disease: Methacrylic aciduria; Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency; Valine metabolic defect; HIBCH deficiency (ORPHA:88639)
Gene: HIBCH
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Methacrylic aciduria; Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency; Valine metabolic defect; HIBCH deficiency (ORPHA:88639)
Gene: HIBCH
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: Methacrylic aciduria; Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency; Valine metabolic defect; HIBCH deficiency (ORPHA:88639)
Gene: HIBCH
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY (OMIM:250620)
Gene: HIBCH
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: Methacrylic aciduria; Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency; Valine metabolic defect; HIBCH deficiency (ORPHA:88639)
Gene: HIBCH
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY (OMIM:250620)
Gene: HIBCH
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: Methacrylic aciduria; Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency; Valine metabolic defect; HIBCH deficiency (ORPHA:88639)
Gene: HIBCH
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Methacrylic aciduria; Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency; Valine metabolic defect; HIBCH deficiency (ORPHA:88639)
Gene: HIBCH
Phenotype: Reduced circulating 3-hydroxyisobutyryl-CoA hydrolase activity (HP:6000215)
Associated disease: 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY (OMIM:250620)
Gene: HIBCH
Phenotype: Infantile onset (HP:0003593)
Associated disease: 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY (OMIM:250620)
Gene: HIBCH
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Methacrylic aciduria; Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency; Valine metabolic defect; HIBCH deficiency (ORPHA:88639)
Gene: HIBCH
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY (OMIM:250620)
Gene: HIBCH
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Methacrylic aciduria; Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency; Valine metabolic defect; HIBCH deficiency (ORPHA:88639)
Gene: HIBCH
Phenotype: Developmental regression (HP:0002376)
Associated disease: 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY (OMIM:250620)
Gene: HIBCH
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: Methacrylic aciduria; Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency; Valine metabolic defect; HIBCH deficiency (ORPHA:88639)
Gene: HIBCH
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: Methacrylic aciduria; Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency; Valine metabolic defect; HIBCH deficiency (ORPHA:88639)
Gene: HIBCH
Phenotype: Nystagmus (HP:0000639)
Associated disease: Methacrylic aciduria; Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency; Valine metabolic defect; HIBCH deficiency (ORPHA:88639)
Gene: HIBCH
Phenotype: Nystagmus (HP:0000639)
Associated disease: 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY (OMIM:250620)
Gene: HIBCH
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: Methacrylic aciduria; Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency; Valine metabolic defect; HIBCH deficiency (ORPHA:88639)
Gene: HIBCH
Phenotype: Small basal ganglia (HP:0012697)
Associated disease: Methacrylic aciduria; Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency; Valine metabolic defect; HIBCH deficiency (ORPHA:88639)
Gene: HIBCH
Phenotype: Facial shape deformation (HP:0011334)
Associated disease: Methacrylic aciduria; Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency; Valine metabolic defect; HIBCH deficiency (ORPHA:88639)
Gene: HIBCH
Phenotype: Irritability (HP:0000737)
Associated disease: Methacrylic aciduria; Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency; Valine metabolic defect; HIBCH deficiency (ORPHA:88639)
Gene: HIBCH
Phenotype: Irritability (HP:0000737)
Associated disease: 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY (OMIM:250620)
Gene: HIBCH
Phenotype: Abnormality of the vertebral column (HP:0000925)
Associated disease: 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY (OMIM:250620)
Gene: HIBCH
Phenotype: Abnormality of mitochondrial metabolism (HP:0003287)
Associated disease: Methacrylic aciduria; Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency; Valine metabolic defect; HIBCH deficiency (ORPHA:88639)
Gene: HIBCH
Phenotype: Epicanthus (HP:0000286)
Associated disease: Methacrylic aciduria; Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency; Valine metabolic defect; HIBCH deficiency (ORPHA:88639)
Gene: HIBCH
Phenotype: Epicanthus (HP:0000286)
Associated disease: 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY (OMIM:250620)
Gene: HIBCH
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Methacrylic aciduria; Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency; Valine metabolic defect; HIBCH deficiency (ORPHA:88639)
Gene: HIBCH
Phenotype: Failure to thrive (HP:0001508)
Associated disease: 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY (OMIM:250620)
Gene: HIBCH
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Methacrylic aciduria; Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency; Valine metabolic defect; HIBCH deficiency (ORPHA:88639)
Gene: HIBCH
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY (OMIM:250620)
Gene: HIBCH
Phenotype: Strabismus (HP:0000486)
Associated disease: Methacrylic aciduria; Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency; Valine metabolic defect; HIBCH deficiency (ORPHA:88639)
Gene: HIBCH
Phenotype: Strabismus (HP:0000486)
Associated disease: 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY (OMIM:250620)
Gene: HIBCH
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Methacrylic aciduria; Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency; Valine metabolic defect; HIBCH deficiency (ORPHA:88639)
Gene: VPS33B
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Hypotonia (HP:0001252)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Hypotonia (HP:0001252)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VPS33B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VPS33B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: KERATODERMA-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE (OMIM:620009)
Gene: VPS33B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VPS33B
Phenotype: Proteinuria (HP:0000093)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 12 (OMIM:620010)
Gene: VPS33B
Phenotype: Renal tubular atrophy (HP:0000092)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Cholestasis (HP:0001396)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 12 (OMIM:620010)
Gene: VPS33B
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Congenital palmoplantar hyperkeratosis (HP:0007545)
Associated disease: KERATODERMA-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE (OMIM:620009)
Gene: VPS33B
Phenotype: Autoamputation of digits (HP:0007460)
Associated disease: KERATODERMA-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE (OMIM:620009)
Gene: VPS33B
Phenotype: Congenital bilateral hip dislocation (HP:0008780)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VPS33B
Phenotype: Lissencephaly (HP:0001339)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: KERATODERMA-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE (OMIM:620009)
Gene: VPS33B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 12 (OMIM:620010)
Gene: VPS33B
Phenotype: Cholestatic liver disease (HP:0002611)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VPS33B
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Renal tubular dysfunction (HP:0000124)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VPS33B
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VPS33B
Phenotype: Nephropathy (HP:0000112)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VPS33B
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VPS33B
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VPS33B
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Abnormal platelet count (HP:0011873)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VPS33B
Phenotype: Infantile onset (HP:0003593)
Associated disease: KERATODERMA-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE (OMIM:620009)
Gene: VPS33B
Phenotype: Infantile onset (HP:0003593)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 12 (OMIM:620010)
Gene: VPS33B
Phenotype: Congenital onset (HP:0003577)
Associated disease: KERATODERMA-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE (OMIM:620009)
Gene: VPS33B
Phenotype: Congenital onset (HP:0003577)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 12 (OMIM:620010)
Gene: VPS33B
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VPS33B
Phenotype: Giant cell hepatitis (HP:0200084)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 12 (OMIM:620010)
Gene: VPS33B
Phenotype: Nephrogenic diabetes insipidus (HP:0009806)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Nephrogenic diabetes insipidus (HP:0009806)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VPS33B
Phenotype: Hepatic melanin-like lysosomal pigmentation (HP:0034714)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Reduced renal corticomedullary differentiation (HP:0005565)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Renal tubular acidosis (HP:0001947)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Dehydration (HP:0001944)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Renal Fanconi syndrome (HP:0001994)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VPS33B
Phenotype: Short stature (HP:0004322)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 12 (OMIM:620010)
Gene: VPS33B
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 12 (OMIM:620010)
Gene: VPS33B
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 12 (OMIM:620010)
Gene: VPS33B
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VPS33B
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VPS33B
Phenotype: Cutis laxa (HP:0000973)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VPS33B
Phenotype: Pruritus (HP:0000989)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 12 (OMIM:620010)
Gene: VPS33B
Phenotype: Jaundice (HP:0000952)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Jaundice (HP:0000952)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 12 (OMIM:620010)
Gene: VPS33B
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VPS33B
Phenotype: Osteopenia (HP:0000938)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VPS33B
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VPS33B
Phenotype: Ichthyosis (HP:0008064)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Ichthyosis (HP:0008064)
Associated disease: KERATODERMA-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE (OMIM:620009)
Gene: VPS33B
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VPS33B
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Microcephaly (HP:0000252)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Microcephaly (HP:0000252)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VPS33B
Phenotype: Increased serum bile acid concentration (HP:0012202)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 12 (OMIM:620010)
Gene: VPS33B
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VPS33B
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VPS33B
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VPS33B
Phenotype: Death in infancy (HP:0001522)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Failure to thrive (HP:0001508)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Small for gestational age (HP:0001518)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Intrahepatic biliary atresia (HP:0005248)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Intrahepatic biliary atresia (HP:0005248)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VPS33B
Phenotype: Neonatal cholestatic liver disease (HP:0006566)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VPS33B
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VPS33B
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 12 (OMIM:620010)
Gene: VPS33B
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 12 (OMIM:620010)
Gene: VPS33B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VPS33B
Phenotype: Low-set ears (HP:0000369)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Low-set ears (HP:0000369)
Associated disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Gene: VPS33B
Phenotype: Sloping forehead (HP:0000340)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Right ventricular hypertrophy (HP:0001667)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Micrognathia (HP:0000347)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Gene: VPS33B
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)