TaoMedAI/RareMedData huggingface dataset:
Gene: HMOX1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HMOX1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HMOX1
Phenotype: Recurrent Haemophilus influenzae infections (HP:0005376)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HMOX1
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HMOX1
Phenotype: Asplenia (HP:0001746)
Associated disease: HEME OXYGENASE 1 DEFICIENCY (OMIM:614034)
Gene: HMOX1
Phenotype: Epistaxis (HP:0000421)
Associated disease: HEME OXYGENASE 1 DEFICIENCY (OMIM:614034)
Gene: HMOX1
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: HEME OXYGENASE 1 DEFICIENCY (OMIM:614034)
Gene: HMOX1
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: HEME OXYGENASE 1 DEFICIENCY (OMIM:614034)
Gene: HMOX1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: HEME OXYGENASE 1 DEFICIENCY (OMIM:614034)
Gene: HMX1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HMX1
Phenotype: Macular hypoplasia (HP:0001104)
Associated disease: OCULOAURICULAR SYNDROME (OMIM:612109)
Gene: HMX1
Phenotype: Short mandibular rami (HP:0003778)
Associated disease: OCULOAURICULAR SYNDROME (OMIM:612109)
Gene: HMX1
Phenotype: Ultra-low vision with retained light perception (HP:0032286)
Associated disease: OCULOAURICULAR SYNDROME (OMIM:612109)
Gene: HMX1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OCULOAURICULAR SYNDROME (OMIM:612109)
Gene: HMX1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HMX1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HMX1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HMX1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HMX1
Phenotype: Exodeviation (HP:0020049)
Associated disease: OCULOAURICULAR SYNDROME (OMIM:612109)
Gene: HMX1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HMX1
Phenotype: Nystagmus (HP:0000639)
Associated disease: OCULOAURICULAR SYNDROME (OMIM:612109)
Gene: HMX1
Phenotype: Sclerocornea (HP:0000647)
Associated disease: OCULOAURICULAR SYNDROME (OMIM:612109)
Gene: HMX1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: OCULOAURICULAR SYNDROME (OMIM:612109)
Gene: HMX1
Phenotype: Posterior embryotoxon (HP:0000627)
Associated disease: OCULOAURICULAR SYNDROME (OMIM:612109)
Gene: HMX1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HMX1
Phenotype: Phthisis bulbi (HP:0000667)
Associated disease: OCULOAURICULAR SYNDROME (OMIM:612109)
Gene: HMX1
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: OCULOAURICULAR SYNDROME (OMIM:612109)
Gene: HMX1
Phenotype: Congenital nystagmus (HP:0006934)
Associated disease: OCULOAURICULAR SYNDROME (OMIM:612109)
Gene: HMX1
Phenotype: Posterior synechiae of the anterior chamber (HP:0011484)
Associated disease: OCULOAURICULAR SYNDROME (OMIM:612109)
Gene: HMX1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HMX1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HMX1
Phenotype: Iris cyst (HP:0011523)
Associated disease: OCULOAURICULAR SYNDROME (OMIM:612109)
Gene: HMX1
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: OCULOAURICULAR SYNDROME (OMIM:612109)
Gene: HMX1
Phenotype: Ocular anterior segment dysgenesis (HP:0007700)
Associated disease: OCULOAURICULAR SYNDROME (OMIM:612109)
Gene: HMX1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HMX1
Phenotype: Morning glory anomaly (HP:0025514)
Associated disease: OCULOAURICULAR SYNDROME (OMIM:612109)
Gene: HMX1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HMX1
Phenotype: Absent earlobe (HP:0000387)
Associated disease: OCULOAURICULAR SYNDROME (OMIM:612109)
Gene: HMX1
Phenotype: Microphakia (HP:0012376)
Associated disease: OCULOAURICULAR SYNDROME (OMIM:612109)
Gene: HMX1
Phenotype: Low-set ears (HP:0000369)
Associated disease: OCULOAURICULAR SYNDROME (OMIM:612109)
Gene: HMX1
Phenotype: Ocular hypertension (HP:0007906)
Associated disease: OCULOAURICULAR SYNDROME (OMIM:612109)
Gene: HMX1
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: OCULOAURICULAR SYNDROME (OMIM:612109)
Gene: HMX1
Phenotype: Retinal coloboma (HP:0000480)
Associated disease: OCULOAURICULAR SYNDROME (OMIM:612109)
Gene: HMX1
Phenotype: Microcornea (HP:0000482)
Associated disease: OCULOAURICULAR SYNDROME (OMIM:612109)
Gene: HMX1
Phenotype: Cataract (HP:0000518)
Associated disease: OCULOAURICULAR SYNDROME (OMIM:612109)
Gene: HMX1
Phenotype: Developmental cataract (HP:0000519)
Associated disease: OCULOAURICULAR SYNDROME (OMIM:612109)
Gene: HMX1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HMX1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: OCULOAURICULAR SYNDROME (OMIM:612109)
Gene: HMX1
Phenotype: Nasolacrimal duct obstruction (HP:0000579)
Associated disease: OCULOAURICULAR SYNDROME (OMIM:612109)
Gene: HMX1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HMX1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OCULOAURICULAR SYNDROME (OMIM:612109)
Gene: HMX1
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: OCULOAURICULAR SYNDROME (OMIM:612109)
Gene: HMX1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: OCULOAURICULAR SYNDROME (OMIM:612109)
Gene: HMX1
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: OCULOAURICULAR SYNDROME (OMIM:612109)
Gene: HMX1
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: OCULOAURICULAR SYNDROME (OMIM:612109)
Gene: HMX1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HMX1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FOXA2
Phenotype: Abnormality of secondary sexual hair (HP:0009888)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: FOXA2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: FOXA2
Phenotype: Seizure (HP:0001250)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: FOXA2
Phenotype: Septo-optic dysplasia (HP:0100842)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: FOXA2
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: FOXA2
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: FOXA2
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: FOXA2
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: FOXA2
Phenotype: Hypotension (HP:0002615)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: FOXA2
Phenotype: Amenorrhea (HP:0000141)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: FOXA2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: FOXA2
Phenotype: Constipation (HP:0002019)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: FOXA2
Phenotype: Decreased cervical spine mobility (HP:0004637)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: FOXA2
Phenotype: Polydactyly (HP:0010442)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: FOXA2
Phenotype: Ectopic posterior pituitary (HP:0011755)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: FOXA2
Phenotype: Absence of secondary sex characteristics (HP:0008187)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: FOXA2
Phenotype: Pituitary hypothyroidism (HP:0008245)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: FOXA2
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: FOXA2
Phenotype: Anterior pituitary agenesis (HP:0010626)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: FOXA2
Phenotype: Median cleft palate (HP:0009099)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: FOXA2
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: FOXA2
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: FOXA2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: FOXA2
Phenotype: Osteoporosis of vertebrae (HP:0005625)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: FOXA2
Phenotype: Ectopic anterior pituitary gland (HP:0012731)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: FOXA2
Phenotype: Infertility (HP:0000789)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: FOXA2
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: FOXA2
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: FOXA2
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: FOXA2
Phenotype: Hypopituitarism (HP:0040075)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: FOXA2
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: FOXA2
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: FOXA2
Phenotype: Osteopenia (HP:0000938)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: FOXA2
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: FOXA2
Phenotype: Fatigue (HP:0012378)
Associated disease: Combined pituitary hormone deficiencies, genetic forms; Multiple pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism (ORPHA:95494)
Gene: FOXA2
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: FOXA2
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: FOXA2
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: FOXA2
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: HNF4A
Phenotype: Lethargy (HP:0001254)
Associated disease: Congenital hyperinsulinism due to HNF4A deficiency; Hyperinsulinemic hypoglycemia due to HNF4A deficiency (ORPHA:263455)
Gene: HNF4A
Phenotype: Seizure (HP:0001250)
Associated disease: Congenital hyperinsulinism due to HNF4A deficiency; Hyperinsulinemic hypoglycemia due to HNF4A deficiency (ORPHA:263455)
Gene: HNF4A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Congenital hyperinsulinism due to HNF4A deficiency; Hyperinsulinemic hypoglycemia due to HNF4A deficiency (ORPHA:263455)
Gene: HNF4A
Phenotype: Pancreatic hypoplasia (HP:0002594)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF4A
Phenotype: Coma (HP:0001259)
Associated disease: Congenital hyperinsulinism due to HNF4A deficiency; Hyperinsulinemic hypoglycemia due to HNF4A deficiency (ORPHA:263455)
Gene: HNF4A
Phenotype: Proteinuria (HP:0000093)
Associated disease: FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG (OMIM:616026)
Gene: HNF4A
Phenotype: Proteinuria (HP:0000093)
Associated disease: Congenital hyperinsulinism due to HNF4A deficiency; Hyperinsulinemic hypoglycemia due to HNF4A deficiency (ORPHA:263455)
Gene: HNF4A
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF4A
Phenotype: Hepatocellular adenoma (HP:0012028)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF4A
Phenotype: Tremor (HP:0001337)
Associated disease: Congenital hyperinsulinism due to HNF4A deficiency; Hyperinsulinemic hypoglycemia due to HNF4A deficiency (ORPHA:263455)
Gene: HNF4A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: HNF4A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1 (OMIM:125850)
Gene: HNF4A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG (OMIM:616026)
Gene: HNF4A
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Congenital hyperinsulinism due to HNF4A deficiency; Hyperinsulinemic hypoglycemia due to HNF4A deficiency (ORPHA:263455)
Gene: HNF4A
Phenotype: Flushing (HP:0031284)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1 (OMIM:125850)
Gene: HNF4A
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG (OMIM:616026)
Gene: HNF4A
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF4A
Phenotype: Nephropathy (HP:0000112)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF4A
Phenotype: Renal cyst (HP:0000107)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF4A
Phenotype: Rickets (HP:0002748)
Associated disease: FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG (OMIM:616026)
Gene: HNF4A
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG (OMIM:616026)
Gene: HNF4A
Phenotype: Diarrhea (HP:0002014)
Associated disease: Congenital hyperinsulinism due to HNF4A deficiency; Hyperinsulinemic hypoglycemia due to HNF4A deficiency (ORPHA:263455)
Gene: HNF4A
Phenotype: Vomiting (HP:0002013)
Associated disease: Congenital hyperinsulinism due to HNF4A deficiency; Hyperinsulinemic hypoglycemia due to HNF4A deficiency (ORPHA:263455)
Gene: HNF4A
Phenotype: Metabolic ketoacidosis (HP:0005979)
Associated disease: Congenital hyperinsulinism due to HNF4A deficiency; Hyperinsulinemic hypoglycemia due to HNF4A deficiency (ORPHA:263455)
Gene: HNF4A
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: HNF4A
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG (OMIM:616026)
Gene: HNF4A
Phenotype: Transient neonatal diabetes mellitus (HP:0008255)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF4A
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG (OMIM:616026)
Gene: HNF4A
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Congenital hyperinsulinism due to HNF4A deficiency; Hyperinsulinemic hypoglycemia due to HNF4A deficiency (ORPHA:263455)
Gene: HNF4A
Phenotype: Late onset (HP:0003584)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: HNF4A
Phenotype: Hypouricemia (HP:0003537)
Associated disease: FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG (OMIM:616026)
Gene: HNF4A
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: Congenital hyperinsulinism due to HNF4A deficiency; Hyperinsulinemic hypoglycemia due to HNF4A deficiency (ORPHA:263455)
Gene: HNF4A
Phenotype: Drowsiness (HP:0002329)
Associated disease: Congenital hyperinsulinism due to HNF4A deficiency; Hyperinsulinemic hypoglycemia due to HNF4A deficiency (ORPHA:263455)
Gene: HNF4A
Phenotype: Neonatal onset (HP:0003623)
Associated disease: FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG (OMIM:616026)
Gene: HNF4A
Phenotype: Hypophosphatemic rickets (HP:0004912)
Associated disease: Congenital hyperinsulinism due to HNF4A deficiency; Hyperinsulinemic hypoglycemia due to HNF4A deficiency (ORPHA:263455)
Gene: HNF4A
Phenotype: Abnormal oral glucose tolerance (HP:0004924)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF4A
Phenotype: Maturity-onset diabetes of the young (HP:0004904)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1 (OMIM:125850)
Gene: HNF4A
Phenotype: Increased waist to hip ratio (HP:0031819)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: HNF4A
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG (OMIM:616026)
Gene: HNF4A
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG (OMIM:616026)
Gene: HNF4A
Phenotype: Diabetic ketoacidosis (HP:0001953)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF4A
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF4A
Phenotype: Hypoketotic hypoglycemia (HP:0001985)
Associated disease: Congenital hyperinsulinism due to HNF4A deficiency; Hyperinsulinemic hypoglycemia due to HNF4A deficiency (ORPHA:263455)
Gene: HNF4A
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF4A
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: Congenital hyperinsulinism due to HNF4A deficiency; Hyperinsulinemic hypoglycemia due to HNF4A deficiency (ORPHA:263455)
Gene: HNF4A
Phenotype: Renal Fanconi syndrome (HP:0001994)
Associated disease: Congenital hyperinsulinism due to HNF4A deficiency; Hyperinsulinemic hypoglycemia due to HNF4A deficiency (ORPHA:263455)
Gene: HNF4A
Phenotype: Increased body weight (HP:0004324)
Associated disease: Congenital hyperinsulinism due to HNF4A deficiency; Hyperinsulinemic hypoglycemia due to HNF4A deficiency (ORPHA:263455)
Gene: HNF4A
Phenotype: Short stature (HP:0004322)
Associated disease: FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG (OMIM:616026)
Gene: HNF4A
Phenotype: Glycosuria (HP:0003076)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF4A
Phenotype: Glycosuria (HP:0003076)
Associated disease: FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG (OMIM:616026)
Gene: HNF4A
Phenotype: Glycosuria (HP:0003076)
Associated disease: Congenital hyperinsulinism due to HNF4A deficiency; Hyperinsulinemic hypoglycemia due to HNF4A deficiency (ORPHA:263455)
Gene: HNF4A
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)