TaoMedAI/RareMedData huggingface dataset:
Gene: POU1F1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Maternal autoimmune disease (HP:0011437)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Infertility (HP:0000789)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: POU1F1
Phenotype: Short nose (HP:0003196)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
Gene: POU1F1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Large posterior fontanelle (HP:0004491)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POU1F1
Phenotype: Panhypopituitarism (HP:0000871)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Pituitary dwarfism (HP:0000839)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Pituitary dwarfism (HP:0000839)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: POU1F1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
Gene: POU1F1
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: POU1F1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POU1F1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: POU1F1
Phenotype: Hypopituitarism (HP:0040075)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Hypopituitarism (HP:0040075)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
Gene: POU1F1
Phenotype: Hypopituitarism (HP:0040075)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: POU1F1
Phenotype: Abnormal prolactin level (HP:0040086)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: POU1F1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POU1F1
Phenotype: Decreased circulating free T4 concentration (HP:0033078)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
Gene: POU1F1
Phenotype: Reduced TSH response to thyrotrophin-releasing hormone stimulation test (HP:0033082)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
Gene: POU1F1
Phenotype: Aplasia/Hypoplasia of the breasts (HP:0010311)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: POU1F1
Phenotype: Reduced circulating growth hormone concentration (HP:0034323)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
Gene: POU1F1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Jaundice (HP:0000952)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
Gene: POU1F1
Phenotype: Osteopenia (HP:0000938)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: POU1F1
Phenotype: Short finger (HP:0009381)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Facial edema (HP:0000282)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
Gene: POU1F1
Phenotype: Malar flattening (HP:0000272)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
Gene: POU1F1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Overweight (HP:0025502)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POU1F1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POU1F1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
Gene: POU1F1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Growth delay (HP:0001510)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Growth delay (HP:0001510)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: POU1F1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POU1F1
Phenotype: Decreased circulating T4 concentration (HP:0031507)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Fatigue (HP:0012378)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Fatigue (HP:0012378)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: POU1F1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
Gene: POU1F1
Phenotype: Hoarse voice (HP:0001609)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
Gene: POU1F1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Decreased circulating ACTH concentration (HP:0002920)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: POU1F1
Phenotype: Decreased circulating ACTH concentration (HP:0002920)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POU1F1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POU1F1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Bradycardia (HP:0001662)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POU1F1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
Gene: POU1F1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: POU1F1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
Gene: POU1F1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
Gene: POU1F1
Phenotype: Concave nasal ridge (HP:0011120)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
Gene: POU1F1
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: POU1F1
Phenotype: Short neck (HP:0000470)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Abnormal digit morphology (HP:0011297)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: POU1F1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POU1F1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Decreased circulating luteinizing hormone level (HP:0030344)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Decreased circulating follicle stimulating hormone concentration (HP:0030341)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Gene: POU1F1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
Gene: POU1F1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POU1F1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POU2AF1
Phenotype: Hepatic encephalopathy (HP:0002480)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Xanthelasma (HP:0001114)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Orthostatic hypotension (HP:0001278)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Steatorrhea (HP:0002570)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Biliary cirrhosis (HP:0002613)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Celiac disease (HP:0002608)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Hepatitis (HP:0012115)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Esophageal varix (HP:0002040)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Increased circulating IgM level (HP:0003496)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Dermatographic urticaria (HP:0011971)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Gastrointestinal inflammation (HP:0004386)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Abnormal circulating lipid concentration (HP:0003119)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Abnormality of the thyroid gland (HP:0000820)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Increased circulating IgA concentration (HP:0003261)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Pruritus (HP:0000989)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Jaundice (HP:0000952)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Onychomycosis (HP:0012203)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Ascites (HP:0001541)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Recurrent fungal infections (HP:0002841)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Fatigue (HP:0012378)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Abnormal intrahepatic bile duct morphology (HP:0011040)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Antimitochondrial antibody positivity (HP:0030167)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU2AF1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: POU3F3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SNIJDERS BLOK-FISHER SYNDROME (OMIM:618604)
Gene: POU3F3
Phenotype: Seizure (HP:0001250)
Associated disease: SNIJDERS BLOK-FISHER SYNDROME (OMIM:618604)
Gene: POU3F3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SNIJDERS BLOK-FISHER SYNDROME (OMIM:618604)
Gene: POU3F3
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: SNIJDERS BLOK-FISHER SYNDROME (OMIM:618604)
Gene: POU3F3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SNIJDERS BLOK-FISHER SYNDROME (OMIM:618604)
Gene: POU3F3
Phenotype: Spasticity (HP:0001257)
Associated disease: SNIJDERS BLOK-FISHER SYNDROME (OMIM:618604)
Gene: POU3F3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SNIJDERS BLOK-FISHER SYNDROME (OMIM:618604)
Gene: POU3F3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SNIJDERS BLOK-FISHER SYNDROME (OMIM:618604)
Gene: POU3F3
Phenotype: Hypoplasia of the olfactory bulb (HP:0040326)
Associated disease: SNIJDERS BLOK-FISHER SYNDROME (OMIM:618604)
Gene: POU3F3
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SNIJDERS BLOK-FISHER SYNDROME (OMIM:618604)
Gene: POU3F3
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: SNIJDERS BLOK-FISHER SYNDROME (OMIM:618604)
Gene: POU3F3
Phenotype: Opisthotonus (HP:0002179)
Associated disease: SNIJDERS BLOK-FISHER SYNDROME (OMIM:618604)
Gene: POU3F3
Phenotype: Postural instability (HP:0002172)
Associated disease: SNIJDERS BLOK-FISHER SYNDROME (OMIM:618604)
Gene: POU3F3
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: SNIJDERS BLOK-FISHER SYNDROME (OMIM:618604)
Gene: POU3F3
Phenotype: Drooling (HP:0002307)
Associated disease: SNIJDERS BLOK-FISHER SYNDROME (OMIM:618604)
Gene: POU3F3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SNIJDERS BLOK-FISHER SYNDROME (OMIM:618604)
Gene: POU3F3
Phenotype: Autistic behavior (HP:0000729)
Associated disease: SNIJDERS BLOK-FISHER SYNDROME (OMIM:618604)
Gene: POU3F3
Phenotype: Epicanthus (HP:0000286)
Associated disease: SNIJDERS BLOK-FISHER SYNDROME (OMIM:618604)
Gene: POU3F3
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: SNIJDERS BLOK-FISHER SYNDROME (OMIM:618604)
Gene: POU3F3
Phenotype: Cupped ear (HP:0000378)
Associated disease: SNIJDERS BLOK-FISHER SYNDROME (OMIM:618604)
Gene: POU3F3
Phenotype: Protruding ear (HP:0000411)
Associated disease: SNIJDERS BLOK-FISHER SYNDROME (OMIM:618604)
Gene: POU3F4
Phenotype: Choroideremia (HP:0001139)
Associated disease: Del(X)(q21); Monosomy Xq21; Ayazi syndrome; Xq21 microdeletion syndrome (ORPHA:1435)
Gene: POU3F4
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: Del(X)(q21); Monosomy Xq21; Ayazi syndrome; Xq21 microdeletion syndrome (ORPHA:1435)