TaoMedAI/RareMedData huggingface dataset:
Gene: GAPVD1
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: GAPVD1
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: GAPVD1
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: GAPVD1
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: GAPVD1
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: GAPVD1
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: GAPVD1
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: GAPVD1
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: GAPVD1
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: GAPVD1
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: GAPVD1
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: GAPVD1
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: GAPVD1
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: ZBTB20
Phenotype: Posterior polar cataract (HP:0001115)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Superiorly displaced ears (HP:0008541)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Sporadic (HP:0003745)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Primrose syndrome; Intellectual disability-cataracts-calcified pinnae-myopathy syndrome (ORPHA:3042)
Gene: ZBTB20
Phenotype: Seizure (HP:0001250)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Seizure (HP:0001250)
Associated disease: Primrose syndrome; Intellectual disability-cataracts-calcified pinnae-myopathy syndrome (ORPHA:3042)
Gene: ZBTB20
Phenotype: Hypotonia (HP:0001252)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Ataxia (HP:0001251)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Primrose syndrome; Intellectual disability-cataracts-calcified pinnae-myopathy syndrome (ORPHA:3042)
Gene: ZBTB20
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: Primrose syndrome; Intellectual disability-cataracts-calcified pinnae-myopathy syndrome (ORPHA:3042)
Gene: ZBTB20
Phenotype: Absent facial hair (HP:0002550)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Bone cyst (HP:0012062)
Associated disease: Primrose syndrome; Intellectual disability-cataracts-calcified pinnae-myopathy syndrome (ORPHA:3042)
Gene: ZBTB20
Phenotype: Flexion contracture (HP:0001371)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Primrose syndrome; Intellectual disability-cataracts-calcified pinnae-myopathy syndrome (ORPHA:3042)
Gene: ZBTB20
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: Primrose syndrome; Intellectual disability-cataracts-calcified pinnae-myopathy syndrome (ORPHA:3042)
Gene: ZBTB20
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Scoliosis (HP:0002650)
Associated disease: Primrose syndrome; Intellectual disability-cataracts-calcified pinnae-myopathy syndrome (ORPHA:3042)
Gene: ZBTB20
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Narrow mouth (HP:0000160)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: Primrose syndrome; Intellectual disability-cataracts-calcified pinnae-myopathy syndrome (ORPHA:3042)
Gene: ZBTB20
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Primrose syndrome; Intellectual disability-cataracts-calcified pinnae-myopathy syndrome (ORPHA:3042)
Gene: ZBTB20
Phenotype: Osteolysis (HP:0002797)
Associated disease: Primrose syndrome; Intellectual disability-cataracts-calcified pinnae-myopathy syndrome (ORPHA:3042)
Gene: ZBTB20
Phenotype: Elevated circulating alpha-fetoprotein concentration (HP:0006254)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Increased size of the mandible (HP:0040309)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Primrose syndrome; Intellectual disability-cataracts-calcified pinnae-myopathy syndrome (ORPHA:3042)
Gene: ZBTB20
Phenotype: Irregular vertebral endplates (HP:0003301)
Associated disease: Primrose syndrome; Intellectual disability-cataracts-calcified pinnae-myopathy syndrome (ORPHA:3042)
Gene: ZBTB20
Phenotype: Irregular vertebral endplates (HP:0003301)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Midface retrusion (HP:0011800)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Primrose syndrome; Intellectual disability-cataracts-calcified pinnae-myopathy syndrome (ORPHA:3042)
Gene: ZBTB20
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Congenital onset (HP:0003577)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Absent axillary hair (HP:0002221)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Sparse body hair (HP:0002231)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Torus palatinus (HP:0100789)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Schizophrenia (HP:0100753)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Dystrophic fingernails (HP:0008391)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Developmental regression (HP:0002376)
Associated disease: Primrose syndrome; Intellectual disability-cataracts-calcified pinnae-myopathy syndrome (ORPHA:3042)
Gene: ZBTB20
Phenotype: Neonatal onset (HP:0003623)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Truncal obesity (HP:0001956)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Anemia (HP:0001903)
Associated disease: Primrose syndrome; Intellectual disability-cataracts-calcified pinnae-myopathy syndrome (ORPHA:3042)
Gene: ZBTB20
Phenotype: Synophrys (HP:0000664)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Synophrys (HP:0000664)
Associated disease: Primrose syndrome; Intellectual disability-cataracts-calcified pinnae-myopathy syndrome (ORPHA:3042)
Gene: ZBTB20
Phenotype: Short stature (HP:0004322)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Short stature (HP:0004322)
Associated disease: Primrose syndrome; Intellectual disability-cataracts-calcified pinnae-myopathy syndrome (ORPHA:3042)
Gene: ZBTB20
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Gynecomastia (HP:0000771)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Primrose syndrome; Intellectual disability-cataracts-calcified pinnae-myopathy syndrome (ORPHA:3042)
Gene: ZBTB20
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Primrose syndrome; Intellectual disability-cataracts-calcified pinnae-myopathy syndrome (ORPHA:3042)
Gene: ZBTB20
Phenotype: Tics (HP:0100033)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Anxiety (HP:0000739)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Autism (HP:0000717)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Restlessness (HP:0000711)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Narrow chest (HP:0000774)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Narrow chest (HP:0000774)
Associated disease: Primrose syndrome; Intellectual disability-cataracts-calcified pinnae-myopathy syndrome (ORPHA:3042)
Gene: ZBTB20
Phenotype: Basilar impression (HP:0005758)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Myopathy (HP:0003198)
Associated disease: Primrose syndrome; Intellectual disability-cataracts-calcified pinnae-myopathy syndrome (ORPHA:3042)
Gene: ZBTB20
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Delayed puberty (HP:0000823)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Hip contracture (HP:0003273)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Hip contracture (HP:0003273)
Associated disease: Primrose syndrome; Intellectual disability-cataracts-calcified pinnae-myopathy syndrome (ORPHA:3042)
Gene: ZBTB20
Phenotype: Osteoporosis (HP:0000939)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Generalized osteoporosis (HP:0040160)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Epicanthus (HP:0000286)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Macrocephaly (HP:0000256)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Malar flattening (HP:0000272)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Posterior scalloping of vertebral bodies (HP:0005121)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Posterior scalloping of vertebral bodies (HP:0005121)
Associated disease: Primrose syndrome; Intellectual disability-cataracts-calcified pinnae-myopathy syndrome (ORPHA:3042)
Gene: ZBTB20
Phenotype: Calcification of the auricular cartilage (HP:0005103)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Calcification of the auricular cartilage (HP:0005103)
Associated disease: Primrose syndrome; Intellectual disability-cataracts-calcified pinnae-myopathy syndrome (ORPHA:3042)
Gene: ZBTB20
Phenotype: Kyphosis (HP:0002808)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Kyphosis (HP:0002808)
Associated disease: Primrose syndrome; Intellectual disability-cataracts-calcified pinnae-myopathy syndrome (ORPHA:3042)
Gene: ZBTB20
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Primrose syndrome; Intellectual disability-cataracts-calcified pinnae-myopathy syndrome (ORPHA:3042)
Gene: ZBTB20
Phenotype: Brachycephaly (HP:0000248)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: High palate (HP:0000218)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Genu valgum (HP:0002857)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Narrow iliac wing (HP:0002868)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Narrow iliac wing (HP:0002868)
Associated disease: Primrose syndrome; Intellectual disability-cataracts-calcified pinnae-myopathy syndrome (ORPHA:3042)
Gene: ZBTB20
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Broad forehead (HP:0000337)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Hypertelorism (HP:0000316)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Primrose syndrome; Intellectual disability-cataracts-calcified pinnae-myopathy syndrome (ORPHA:3042)
Gene: ZBTB20
Phenotype: Macrotia (HP:0000400)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Macrotia (HP:0000400)
Associated disease: Primrose syndrome; Intellectual disability-cataracts-calcified pinnae-myopathy syndrome (ORPHA:3042)
Gene: ZBTB20
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Strabismus (HP:0000486)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Primrose syndrome; Intellectual disability-cataracts-calcified pinnae-myopathy syndrome (ORPHA:3042)
Gene: ZBTB20
Phenotype: Deeply set eye (HP:0000490)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Anteverted nares (HP:0000463)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Anonychia (HP:0001798)
Associated disease: Primrose syndrome; Intellectual disability-cataracts-calcified pinnae-myopathy syndrome (ORPHA:3042)
Gene: ZBTB20
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Pes cavus (HP:0001761)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Cataract (HP:0000518)
Associated disease: Primrose syndrome; Intellectual disability-cataracts-calcified pinnae-myopathy syndrome (ORPHA:3042)
Gene: ZBTB20
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Ptosis (HP:0000508)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: ZBTB20
Phenotype: Prominent forehead (HP:0011220)
Associated disease: PRIMROSE SYNDROME (OMIM:259050)
Gene: TRAF3IP1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRAF3IP1
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: SENIOR-LOKEN SYNDROME 9 (OMIM:616629)
Gene: TRAF3IP1
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: TRAF3IP1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAF3IP1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAF3IP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Ataxia (HP:0001251)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: TRAF3IP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: TRAF3IP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SENIOR-LOKEN SYNDROME 9 (OMIM:616629)
Gene: TRAF3IP1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAF3IP1
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: SENIOR-LOKEN SYNDROME 9 (OMIM:616629)
Gene: TRAF3IP1
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: TRAF3IP1
Phenotype: Hypoplasia of the femoral head (HP:0008802)
Associated disease: SENIOR-LOKEN SYNDROME 9 (OMIM:616629)
Gene: TRAF3IP1
Phenotype: Cholestasis (HP:0001396)
Associated disease: SENIOR-LOKEN SYNDROME 9 (OMIM:616629)
Gene: TRAF3IP1
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: SENIOR-LOKEN SYNDROME 9 (OMIM:616629)
Gene: TRAF3IP1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAF3IP1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAF3IP1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRAF3IP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SENIOR-LOKEN SYNDROME 9 (OMIM:616629)
Gene: TRAF3IP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRAF3IP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAF3IP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAF3IP1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Congenital hepatic fibrosis (HP:0002612)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: TRAF3IP1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAF3IP1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAF3IP1
Phenotype: Hypogonadism (HP:0000135)
Associated disease: SENIOR-LOKEN SYNDROME 9 (OMIM:616629)
Gene: TRAF3IP1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRAF3IP1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRAF3IP1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAF3IP1
Phenotype: Polydactyly (HP:0010442)
Associated disease: SENIOR-LOKEN SYNDROME 9 (OMIM:616629)
Gene: TRAF3IP1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)