TaoMedAI/RareMedData huggingface dataset:
Gene: INTU
Phenotype: Lateral clavicle hook (HP:0000895)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INTU
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Preaxial polydactyly (HP:0100258)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Retrognathia (HP:0000278)
Associated disease: OROFACIODIGITAL SYNDROME XVII (OMIM:617926)
Gene: INTU
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Clinodactyly (HP:0030084)
Associated disease: OROFACIODIGITAL SYNDROME XVII (OMIM:617926)
Gene: INTU
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Brachycephaly (HP:0000248)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INTU
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INTU
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INTU
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INTU
Phenotype: Hearing impairment (HP:0000365)
Associated disease: OROFACIODIGITAL SYNDROME XVII (OMIM:617926)
Gene: INTU
Phenotype: Low-set ears (HP:0000369)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Low-set ears (HP:0000369)
Associated disease: OROFACIODIGITAL SYNDROME XVII (OMIM:617926)
Gene: INTU
Phenotype: Complete atrioventricular canal defect (HP:0001674)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INTU
Phenotype: Micrognathia (HP:0000347)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: OROFACIODIGITAL SYNDROME XVII (OMIM:617926)
Gene: INTU
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INTU
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Absent nasal bridge (HP:0005285)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Short neck (HP:0000470)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Short neck (HP:0000470)
Associated disease: OROFACIODIGITAL SYNDROME XVII (OMIM:617926)
Gene: INTU
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Prominent nose (HP:0000448)
Associated disease: OROFACIODIGITAL SYNDROME XVII (OMIM:617926)
Gene: INTU
Phenotype: Decreased calvarial ossification (HP:0005474)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: OROFACIODIGITAL SYNDROME XVII (OMIM:617926)
Gene: INTU
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INTU
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Microphthalmia (HP:0000568)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AGO2
Phenotype: Hypoplastic helices (HP:0008589)
Associated disease: LESSEL-KREIENKAMP SYNDROME (OMIM:619149)
Gene: AGO2
Phenotype: Receptive language delay (HP:0010863)
Associated disease: LESSEL-KREIENKAMP SYNDROME (OMIM:619149)
Gene: AGO2
Phenotype: Motor delay (HP:0001270)
Associated disease: LESSEL-KREIENKAMP SYNDROME (OMIM:619149)
Gene: AGO2
Phenotype: Seizure (HP:0001250)
Associated disease: LESSEL-KREIENKAMP SYNDROME (OMIM:619149)
Gene: AGO2
Phenotype: Hypotonia (HP:0001252)
Associated disease: LESSEL-KREIENKAMP SYNDROME (OMIM:619149)
Gene: AGO2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LESSEL-KREIENKAMP SYNDROME (OMIM:619149)
Gene: AGO2
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: LESSEL-KREIENKAMP SYNDROME (OMIM:619149)
Gene: AGO2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LESSEL-KREIENKAMP SYNDROME (OMIM:619149)
Gene: AGO2
Phenotype: Open mouth (HP:0000194)
Associated disease: LESSEL-KREIENKAMP SYNDROME (OMIM:619149)
Gene: AGO2
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: LESSEL-KREIENKAMP SYNDROME (OMIM:619149)
Gene: AGO2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: LESSEL-KREIENKAMP SYNDROME (OMIM:619149)
Gene: AGO2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: LESSEL-KREIENKAMP SYNDROME (OMIM:619149)
Gene: AGO2
Phenotype: Wide cranial sutures (HP:0010537)
Associated disease: LESSEL-KREIENKAMP SYNDROME (OMIM:619149)
Gene: AGO2
Phenotype: Infantile onset (HP:0003593)
Associated disease: LESSEL-KREIENKAMP SYNDROME (OMIM:619149)
Gene: AGO2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: LESSEL-KREIENKAMP SYNDROME (OMIM:619149)
Gene: AGO2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: LESSEL-KREIENKAMP SYNDROME (OMIM:619149)
Gene: AGO2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: LESSEL-KREIENKAMP SYNDROME (OMIM:619149)
Gene: AGO2
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: LESSEL-KREIENKAMP SYNDROME (OMIM:619149)
Gene: AGO2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: LESSEL-KREIENKAMP SYNDROME (OMIM:619149)
Gene: AGO2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: LESSEL-KREIENKAMP SYNDROME (OMIM:619149)
Gene: AGO2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: LESSEL-KREIENKAMP SYNDROME (OMIM:619149)
Gene: AGO2
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: LESSEL-KREIENKAMP SYNDROME (OMIM:619149)
Gene: AGO2
Phenotype: Epicanthus (HP:0000286)
Associated disease: LESSEL-KREIENKAMP SYNDROME (OMIM:619149)
Gene: AGO2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: LESSEL-KREIENKAMP SYNDROME (OMIM:619149)
Gene: AGO2
Phenotype: Overfolded helix (HP:0000396)
Associated disease: LESSEL-KREIENKAMP SYNDROME (OMIM:619149)
Gene: AGO2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: LESSEL-KREIENKAMP SYNDROME (OMIM:619149)
Gene: AGO2
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: LESSEL-KREIENKAMP SYNDROME (OMIM:619149)
Gene: AGO2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LESSEL-KREIENKAMP SYNDROME (OMIM:619149)
Gene: AGO2
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: LESSEL-KREIENKAMP SYNDROME (OMIM:619149)
Gene: AGO2
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: LESSEL-KREIENKAMP SYNDROME (OMIM:619149)
Gene: AGO2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: LESSEL-KREIENKAMP SYNDROME (OMIM:619149)
Gene: AGO2
Phenotype: Strabismus (HP:0000486)
Associated disease: LESSEL-KREIENKAMP SYNDROME (OMIM:619149)
Gene: AGO2
Phenotype: Deeply set eye (HP:0000490)
Associated disease: LESSEL-KREIENKAMP SYNDROME (OMIM:619149)
Gene: AGO2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: LESSEL-KREIENKAMP SYNDROME (OMIM:619149)
Gene: AGO2
Phenotype: Visual impairment (HP:0000505)
Associated disease: LESSEL-KREIENKAMP SYNDROME (OMIM:619149)
Gene: AGO2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: LESSEL-KREIENKAMP SYNDROME (OMIM:619149)
Gene: IL37
Phenotype: Motor delay (HP:0001270)
Associated disease: INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE (OMIM:619398)
Gene: IL37
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE (OMIM:619398)
Gene: IL37
Phenotype: Infantile onset (HP:0003593)
Associated disease: INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE (OMIM:619398)
Gene: IL37
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE (OMIM:619398)
Gene: IL37
Phenotype: Bloody diarrhea (HP:0025085)
Associated disease: INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE (OMIM:619398)
Gene: IL37
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE (OMIM:619398)
Gene: IL37
Phenotype: Anemia (HP:0001903)
Associated disease: INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE (OMIM:619398)
Gene: IL37
Phenotype: Ulcerative colitis (HP:0100279)
Associated disease: INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE (OMIM:619398)
Gene: IL37
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE (OMIM:619398)
Gene: VPS4A
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: CIMDAG SYNDROME (OMIM:619273)
Gene: VPS4A
Phenotype: Motor delay (HP:0001270)
Associated disease: CIMDAG SYNDROME (OMIM:619273)
Gene: VPS4A
Phenotype: Seizure (HP:0001250)
Associated disease: CIMDAG SYNDROME (OMIM:619273)
Gene: VPS4A
Phenotype: Hypotonia (HP:0001252)
Associated disease: CIMDAG SYNDROME (OMIM:619273)
Gene: VPS4A
Phenotype: Ataxia (HP:0001251)
Associated disease: CIMDAG SYNDROME (OMIM:619273)
Gene: VPS4A
Phenotype: Spasticity (HP:0001257)
Associated disease: CIMDAG SYNDROME (OMIM:619273)
Gene: VPS4A
Phenotype: Dystonia (HP:0001332)
Associated disease: CIMDAG SYNDROME (OMIM:619273)
Gene: VPS4A
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: CIMDAG SYNDROME (OMIM:619273)
Gene: VPS4A
Phenotype: Absent speech (HP:0001344)
Associated disease: CIMDAG SYNDROME (OMIM:619273)
Gene: VPS4A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CIMDAG SYNDROME (OMIM:619273)
Gene: VPS4A
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: CIMDAG SYNDROME (OMIM:619273)
Gene: VPS4A
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: CIMDAG SYNDROME (OMIM:619273)
Gene: VPS4A
Phenotype: Hypogonadism (HP:0000135)
Associated disease: CIMDAG SYNDROME (OMIM:619273)
Gene: VPS4A
Phenotype: Visual fixation instability (HP:0025405)
Associated disease: CIMDAG SYNDROME (OMIM:619273)
Gene: VPS4A
Phenotype: Microvesicular hepatic steatosis (HP:0001414)
Associated disease: CIMDAG SYNDROME (OMIM:619273)
Gene: VPS4A
Phenotype: Recurrent infections (HP:0002719)
Associated disease: CIMDAG SYNDROME (OMIM:619273)
Gene: VPS4A
Phenotype: Chorea (HP:0002072)
Associated disease: CIMDAG SYNDROME (OMIM:619273)
Gene: VPS4A
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: CIMDAG SYNDROME (OMIM:619273)
Gene: VPS4A
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: CIMDAG SYNDROME (OMIM:619273)
Gene: VPS4A
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CIMDAG SYNDROME (OMIM:619273)
Gene: VPS4A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CIMDAG SYNDROME (OMIM:619273)
Gene: VPS4A
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: CIMDAG SYNDROME (OMIM:619273)
Gene: VPS4A
Phenotype: Death in early adulthood (HP:0100613)
Associated disease: CIMDAG SYNDROME (OMIM:619273)
Gene: VPS4A
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: CIMDAG SYNDROME (OMIM:619273)
Gene: VPS4A
Phenotype: Pontocerebellar atrophy (HP:0006879)
Associated disease: CIMDAG SYNDROME (OMIM:619273)
Gene: VPS4A
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: CIMDAG SYNDROME (OMIM:619273)
Gene: VPS4A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CIMDAG SYNDROME (OMIM:619273)
Gene: VPS4A
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: CIMDAG SYNDROME (OMIM:619273)
Gene: VPS4A
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: CIMDAG SYNDROME (OMIM:619273)
Gene: VPS4A
Phenotype: Scleral staphyloma (HP:0030854)
Associated disease: CIMDAG SYNDROME (OMIM:619273)
Gene: VPS4A
Phenotype: Microcephaly (HP:0000252)
Associated disease: CIMDAG SYNDROME (OMIM:619273)
Gene: VPS4A
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CIMDAG SYNDROME (OMIM:619273)
Gene: VPS4A
Phenotype: Developmental cataract (HP:0000519)
Associated disease: CIMDAG SYNDROME (OMIM:619273)
Gene: VPS4A
Phenotype: Visual impairment (HP:0000505)
Associated disease: CIMDAG SYNDROME (OMIM:619273)
Gene: VPS4A
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: CIMDAG SYNDROME (OMIM:619273)
Gene: DISC2
Phenotype: Negativism (HP:0410291)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: DISC2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: DISC2
Phenotype: Schizophrenia (HP:0100753)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: DISC2
Phenotype: Social and occupational deterioration (HP:0007086)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: DISC2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: DISC2
Phenotype: Hallucinations (HP:0000738)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: DISC2
Phenotype: Delusion (HP:0000746)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: OXGR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEPHROLITHIASIS, CALCIUM OXALATE, 2, WITH OR WITHOUT NEPHROCALCINOSIS (OMIM:620374)
Gene: OXGR1
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: NEPHROLITHIASIS, CALCIUM OXALATE, 2, WITH OR WITHOUT NEPHROCALCINOSIS (OMIM:620374)
Gene: OXGR1
Phenotype: Middle age onset (HP:0003596)
Associated disease: NEPHROLITHIASIS, CALCIUM OXALATE, 2, WITH OR WITHOUT NEPHROCALCINOSIS (OMIM:620374)
Gene: OXGR1
Phenotype: Late onset (HP:0003584)
Associated disease: NEPHROLITHIASIS, CALCIUM OXALATE, 2, WITH OR WITHOUT NEPHROCALCINOSIS (OMIM:620374)
Gene: OXGR1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEPHROLITHIASIS, CALCIUM OXALATE, 2, WITH OR WITHOUT NEPHROCALCINOSIS (OMIM:620374)
Gene: OXGR1
Phenotype: Young adult onset (HP:0011462)
Associated disease: NEPHROLITHIASIS, CALCIUM OXALATE, 2, WITH OR WITHOUT NEPHROCALCINOSIS (OMIM:620374)
Gene: OXGR1
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: NEPHROLITHIASIS, CALCIUM OXALATE, 2, WITH OR WITHOUT NEPHROCALCINOSIS (OMIM:620374)
Gene: OXGR1
Phenotype: Hyperoxaluria (HP:0003159)
Associated disease: NEPHROLITHIASIS, CALCIUM OXALATE, 2, WITH OR WITHOUT NEPHROCALCINOSIS (OMIM:620374)
Gene: OXGR1
Phenotype: Hypocitraturia (HP:0012405)
Associated disease: NEPHROLITHIASIS, CALCIUM OXALATE, 2, WITH OR WITHOUT NEPHROCALCINOSIS (OMIM:620374)
Gene: TUBGCP4
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBGCP4
Phenotype: Hypertonia (HP:0001276)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP4
Phenotype: Seizure (HP:0001250)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 (OMIM:616335)
Gene: TUBGCP4
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 (OMIM:616335)
Gene: TUBGCP4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBGCP4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBGCP4
Phenotype: Scoliosis (HP:0002650)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP4
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBGCP4
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 (OMIM:616335)
Gene: TUBGCP4
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBGCP4
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP4
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP4
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 (OMIM:616335)
Gene: TUBGCP4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBGCP4
Phenotype: Nystagmus (HP:0000639)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 (OMIM:616335)
Gene: TUBGCP4
Phenotype: Nystagmus (HP:0000639)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP4
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP4
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBGCP4
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 (OMIM:616335)
Gene: TUBGCP4
Phenotype: Short stature (HP:0004322)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP4
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBGCP4
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBGCP4
Phenotype: Biparietal narrowing (HP:0004422)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP4
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP4
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBGCP4
Phenotype: Chorioretinal dysplasia (HP:0007731)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 (OMIM:616335)
Gene: TUBGCP4
Phenotype: Microcephaly (HP:0000252)
Associated disease: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 (OMIM:616335)
Gene: TUBGCP4
Phenotype: Microcephaly (HP:0000252)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP4
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBGCP4
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)
Gene: TUBGCP4
Phenotype: Pointed chin (HP:0000307)
Associated disease: Autosomal recessive chorioretinopathy-microcephaly syndrome; Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome (ORPHA:2518)