TaoMedAI/RareMedData huggingface dataset:
Gene: CYP26B1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP26B1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP26B1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP26B1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP26B1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP26B1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP26B1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC2A9
Phenotype: Uric acid urolithiasis independent of gout (HP:0008651)
Associated disease: Familial renal hypouricemia; Hereditary renal hypouricemia (ORPHA:94088)
Gene: SLC2A9
Phenotype: Abnormal renal tubule morphology (HP:0000091)
Associated disease: Familial renal hypouricemia; Hereditary renal hypouricemia (ORPHA:94088)
Gene: SLC2A9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOURICEMIA, RENAL, 2 (OMIM:612076)
Gene: SLC2A9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOURICEMIA, RENAL, 2 (OMIM:612076)
Gene: SLC2A9
Phenotype: Postexertional symptom exacerbation (HP:0030973)
Associated disease: Familial renal hypouricemia; Hereditary renal hypouricemia (ORPHA:94088)
Gene: SLC2A9
Phenotype: Nausea (HP:0002018)
Associated disease: Familial renal hypouricemia; Hereditary renal hypouricemia (ORPHA:94088)
Gene: SLC2A9
Phenotype: Vomiting (HP:0002013)
Associated disease: Familial renal hypouricemia; Hereditary renal hypouricemia (ORPHA:94088)
Gene: SLC2A9
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: Familial renal hypouricemia; Hereditary renal hypouricemia (ORPHA:94088)
Gene: SLC2A9
Phenotype: Back pain (HP:0003418)
Associated disease: Familial renal hypouricemia; Hereditary renal hypouricemia (ORPHA:94088)
Gene: SLC2A9
Phenotype: Hypouricemia (HP:0003537)
Associated disease: HYPOURICEMIA, RENAL, 2 (OMIM:612076)
Gene: SLC2A9
Phenotype: Hypouricemia (HP:0003537)
Associated disease: Familial renal hypouricemia; Hereditary renal hypouricemia (ORPHA:94088)
Gene: SLC2A9
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Familial renal hypouricemia; Hereditary renal hypouricemia (ORPHA:94088)
Gene: SLC2A9
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: Familial renal hypouricemia; Hereditary renal hypouricemia (ORPHA:94088)
Gene: SLC2A9
Phenotype: Hematuria (HP:0000790)
Associated disease: Familial renal hypouricemia; Hereditary renal hypouricemia (ORPHA:94088)
Gene: SLC2A9
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: HYPOURICEMIA, RENAL, 2 (OMIM:612076)
Gene: SLC2A9
Phenotype: Hyperuricosuria (HP:0003149)
Associated disease: Familial renal hypouricemia; Hereditary renal hypouricemia (ORPHA:94088)
Gene: SLC2A9
Phenotype: Increased blood urea nitrogen (HP:0003138)
Associated disease: Familial renal hypouricemia; Hereditary renal hypouricemia (ORPHA:94088)
Gene: SLC2A9
Phenotype: Decreased glomerular filtration rate (HP:0012213)
Associated disease: Familial renal hypouricemia; Hereditary renal hypouricemia (ORPHA:94088)
Gene: SLC2A9
Phenotype: Abnormal renal physiology (HP:0012211)
Associated disease: Familial renal hypouricemia; Hereditary renal hypouricemia (ORPHA:94088)
Gene: SLC2A9
Phenotype: Mild proteinuria (HP:0012595)
Associated disease: Familial renal hypouricemia; Hereditary renal hypouricemia (ORPHA:94088)
Gene: DIABLO
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 64 (OMIM:614152)
Gene: DIABLO
Phenotype: Progressive (HP:0003676)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 64 (OMIM:614152)
Gene: DIABLO
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 64 (OMIM:614152)
Gene: DIABLO
Phenotype: Young adult onset (HP:0011462)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 64 (OMIM:614152)
Gene: DIABLO
Phenotype: Tinnitus (HP:0000360)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 64 (OMIM:614152)
Gene: DIABLO
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 64 (OMIM:614152)
Gene: INPP5E
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: INPP5E
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Enlarged fossa interpeduncularis (HP:0100951)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Poor speech (HP:0002465)
Associated disease: MORM syndrome; Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome (ORPHA:75858)
Gene: INPP5E
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: INPP5E
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: MORM syndrome; Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome (ORPHA:75858)
Gene: INPP5E
Phenotype: Occipital myelomeningocele (HP:0007271)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MORM syndrome; Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome (ORPHA:75858)
Gene: INPP5E
Phenotype: Poor head control (HP:0002421)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Gait disturbance (HP:0001288)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: INPP5E
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: MORM syndrome; Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome (ORPHA:75858)
Gene: INPP5E
Phenotype: Seizure (HP:0001250)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Seizure (HP:0001250)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Seizure (HP:0001250)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: INPP5E
Phenotype: Hypotonia (HP:0001252)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Hypotonia (HP:0001252)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Hypotonia (HP:0001252)
Associated disease: MORM syndrome; Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome (ORPHA:75858)
Gene: INPP5E
Phenotype: Hypotonia (HP:0001252)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME (OMIM:610156)
Gene: INPP5E
Phenotype: Hypotonia (HP:0001252)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: INPP5E
Phenotype: Ataxia (HP:0001251)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Ataxia (HP:0001251)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Ataxia (HP:0001251)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Ataxia (HP:0001251)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: INPP5E
Phenotype: Intellectual disability (HP:0001249)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Intellectual disability (HP:0001249)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: INPP5E
Phenotype: Global developmental delay (HP:0001263)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Global developmental delay (HP:0001263)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: INPP5E
Phenotype: Spasticity (HP:0001257)
Associated disease: MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME (OMIM:610156)
Gene: INPP5E
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: INPP5E
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: INPP5E
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Brainstem dysplasia (HP:0002508)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: MORM syndrome; Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome (ORPHA:75858)
Gene: INPP5E
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Micropenis (HP:0000054)
Associated disease: MORM syndrome; Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome (ORPHA:75858)
Gene: INPP5E
Phenotype: Micropenis (HP:0000054)
Associated disease: MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME (OMIM:610156)
Gene: INPP5E
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: INPP5E
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: INPP5E
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME (OMIM:610156)
Gene: INPP5E
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Tremor (HP:0001337)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Tremor (HP:0001337)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: INPP5E
Phenotype: Tremor (HP:0001337)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: INPP5E
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: INPP5E
Phenotype: Scoliosis (HP:0002650)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Scoliosis (HP:0002650)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Scoliosis (HP:0002650)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: INPP5E
Phenotype: Congenital hepatic fibrosis (HP:0002612)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Childhood-onset truncal obesity (HP:0008915)
Associated disease: MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME (OMIM:610156)
Gene: INPP5E
Phenotype: Macroglossia (HP:0000158)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Cleft palate (HP:0000175)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: INPP5E
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: MORM syndrome; Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome (ORPHA:75858)
Gene: INPP5E
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: INPP5E
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME (OMIM:610156)
Gene: INPP5E
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: INPP5E
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Neonatal breathing dysregulation (HP:0002790)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Nephropathy (HP:0000112)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Nephropathy (HP:0000112)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Renal cyst (HP:0000107)
Associated disease: JOUBERT SYNDROME 1 (OMIM:213300)
Gene: INPP5E
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: INPP5E
Phenotype: Occipital encephalocele (HP:0002085)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: INPP5E
Phenotype: Encephalocele (HP:0002084)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: INPP5E
Phenotype: Encephalocele (HP:0002084)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: INPP5E
Phenotype: Apnea (HP:0002104)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: INPP5E
Phenotype: Apnea (HP:0002104)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)