TaoMedAI/RareMedData huggingface dataset:
Gene: TBX3
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX3
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: Pallister ulnar-mammary syndrome; UMS; Schinzel syndrome; Ulnar-mammary syndrome (ORPHA:3138)
Gene: TBX3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX3
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HNF1A
Phenotype: Sporadic (HP:0003745)
Associated disease: RENAL CELL CARCINOMA, NONPAPILLARY (OMIM:144700)
Gene: HNF1A
Phenotype: Syncope (HP:0001279)
Associated disease: Hyperinsulinemic hypoglycemia due to HNF1A deficiency; Hyperinsulinism due to HNF1A deficiency (ORPHA:324575)
Gene: HNF1A
Phenotype: Lethargy (HP:0001254)
Associated disease: Hyperinsulinemic hypoglycemia due to HNF1A deficiency; Hyperinsulinism due to HNF1A deficiency (ORPHA:324575)
Gene: HNF1A
Phenotype: Pancreatic hypoplasia (HP:0002594)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF1A
Phenotype: Polyphagia (HP:0002591)
Associated disease: Hyperinsulinemic hypoglycemia due to HNF1A deficiency; Hyperinsulinism due to HNF1A deficiency (ORPHA:324575)
Gene: HNF1A
Phenotype: Polyphagia (HP:0002591)
Associated disease: TYPE 1 DIABETES MELLITUS (OMIM:222100)
Gene: HNF1A
Phenotype: Excessive insulin response to glucagon test (HP:0031084)
Associated disease: Hyperinsulinemic hypoglycemia due to HNF1A deficiency; Hyperinsulinism due to HNF1A deficiency (ORPHA:324575)
Gene: HNF1A
Phenotype: Reactive hypoglycemia (HP:0012051)
Associated disease: Hyperinsulinemic hypoglycemia due to HNF1A deficiency; Hyperinsulinism due to HNF1A deficiency (ORPHA:324575)
Gene: HNF1A
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF1A
Phenotype: Hepatocellular adenoma (HP:0012028)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF1A
Phenotype: Hepatocellular adenoma (HP:0012028)
Associated disease: HEPATIC ADENOMAS, FAMILIAL (OMIM:142330)
Gene: HNF1A
Phenotype: Hypoglycemic coma (HP:0001325)
Associated disease: Hyperinsulinemic hypoglycemia due to HNF1A deficiency; Hyperinsulinism due to HNF1A deficiency (ORPHA:324575)
Gene: HNF1A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: HNF1A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HEPATIC ADENOMAS, FAMILIAL (OMIM:142330)
Gene: HNF1A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (OMIM:600496)
Gene: HNF1A
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Hyperinsulinemic hypoglycemia due to HNF1A deficiency; Hyperinsulinism due to HNF1A deficiency (ORPHA:324575)
Gene: HNF1A
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: HEPATIC ADENOMAS, FAMILIAL (OMIM:142330)
Gene: HNF1A
Phenotype: Decreased level of 1,5 anhydroglucitol in serum (HP:0410050)
Associated disease: TYPE 1 DIABETES MELLITUS (OMIM:222100)
Gene: HNF1A
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF1A
Phenotype: Nephropathy (HP:0000112)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF1A
Phenotype: Renal cyst (HP:0000107)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF1A
Phenotype: Polyuria (HP:0000103)
Associated disease: TYPE 1 DIABETES MELLITUS (OMIM:222100)
Gene: HNF1A
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (OMIM:600496)
Gene: HNF1A
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: HNF1A
Phenotype: Decreased circulating free fatty acid level (HP:0040299)
Associated disease: Hyperinsulinemic hypoglycemia due to HNF1A deficiency; Hyperinsulinism due to HNF1A deficiency (ORPHA:324575)
Gene: HNF1A
Phenotype: Hypoglycemic seizures (HP:0002173)
Associated disease: Hyperinsulinemic hypoglycemia due to HNF1A deficiency; Hyperinsulinism due to HNF1A deficiency (ORPHA:324575)
Gene: HNF1A
Phenotype: Transient neonatal diabetes mellitus (HP:0008255)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF1A
Phenotype: Infantile onset (HP:0003593)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (OMIM:600496)
Gene: HNF1A
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Hyperinsulinemic hypoglycemia due to HNF1A deficiency; Hyperinsulinism due to HNF1A deficiency (ORPHA:324575)
Gene: HNF1A
Phenotype: Late onset (HP:0003584)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: HNF1A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Hyperinsulinemic hypoglycemia due to HNF1A deficiency; Hyperinsulinism due to HNF1A deficiency (ORPHA:324575)
Gene: HNF1A
Phenotype: Episodic hyperhidrosis (HP:0001069)
Associated disease: Hyperinsulinemic hypoglycemia due to HNF1A deficiency; Hyperinsulinism due to HNF1A deficiency (ORPHA:324575)
Gene: HNF1A
Phenotype: Drowsiness (HP:0002329)
Associated disease: Hyperinsulinemic hypoglycemia due to HNF1A deficiency; Hyperinsulinism due to HNF1A deficiency (ORPHA:324575)
Gene: HNF1A
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: TYPE 1 DIABETES MELLITUS 20 (OMIM:612520)
Gene: HNF1A
Phenotype: Maternal diabetes (HP:0009800)
Associated disease: Hyperinsulinemic hypoglycemia due to HNF1A deficiency; Hyperinsulinism due to HNF1A deficiency (ORPHA:324575)
Gene: HNF1A
Phenotype: Abnormal oral glucose tolerance (HP:0004924)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF1A
Phenotype: Loss of consciousness (HP:0007185)
Associated disease: Hyperinsulinemic hypoglycemia due to HNF1A deficiency; Hyperinsulinism due to HNF1A deficiency (ORPHA:324575)
Gene: HNF1A
Phenotype: Maturity-onset diabetes of the young (HP:0004904)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (OMIM:600496)
Gene: HNF1A
Phenotype: Maturity-onset diabetes of the young (HP:0004904)
Associated disease: Hyperinsulinemic hypoglycemia due to HNF1A deficiency; Hyperinsulinism due to HNF1A deficiency (ORPHA:324575)
Gene: HNF1A
Phenotype: Maturity-onset diabetes of the young (HP:0004904)
Associated disease: HEPATIC ADENOMAS, FAMILIAL (OMIM:142330)
Gene: HNF1A
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: RENAL CELL CARCINOMA, NONPAPILLARY (OMIM:144700)
Gene: HNF1A
Phenotype: Increased waist to hip ratio (HP:0031819)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: HNF1A
Phenotype: Palpitations (HP:0001962)
Associated disease: Hyperinsulinemic hypoglycemia due to HNF1A deficiency; Hyperinsulinism due to HNF1A deficiency (ORPHA:324575)
Gene: HNF1A
Phenotype: Polydipsia (HP:0001959)
Associated disease: TYPE 1 DIABETES MELLITUS (OMIM:222100)
Gene: HNF1A
Phenotype: Diabetic ketoacidosis (HP:0001953)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF1A
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF1A
Phenotype: Ketoacidosis (HP:0001993)
Associated disease: TYPE 1 DIABETES MELLITUS (OMIM:222100)
Gene: HNF1A
Phenotype: Hypoketotic hypoglycemia (HP:0001985)
Associated disease: Hyperinsulinemic hypoglycemia due to HNF1A deficiency; Hyperinsulinism due to HNF1A deficiency (ORPHA:324575)
Gene: HNF1A
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF1A
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: Hyperinsulinemic hypoglycemia due to HNF1A deficiency; Hyperinsulinism due to HNF1A deficiency (ORPHA:324575)
Gene: HNF1A
Phenotype: Glycosuria (HP:0003076)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF1A
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (OMIM:600496)
Gene: HNF1A
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF1A
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: TYPE 1 DIABETES MELLITUS (OMIM:222100)
Gene: HNF1A
Phenotype: Ketotic hypoglycemia (HP:0012734)
Associated disease: Hyperinsulinemic hypoglycemia due to HNF1A deficiency; Hyperinsulinism due to HNF1A deficiency (ORPHA:324575)
Gene: HNF1A
Phenotype: Agitation (HP:0000713)
Associated disease: Hyperinsulinemic hypoglycemia due to HNF1A deficiency; Hyperinsulinism due to HNF1A deficiency (ORPHA:324575)
Gene: HNF1A
Phenotype: Neurodevelopmental abnormality (HP:0012759)
Associated disease: Hyperinsulinemic hypoglycemia due to HNF1A deficiency; Hyperinsulinism due to HNF1A deficiency (ORPHA:324575)
Gene: HNF1A
Phenotype: Increased C-peptide level (HP:0030796)
Associated disease: Hyperinsulinemic hypoglycemia due to HNF1A deficiency; Hyperinsulinism due to HNF1A deficiency (ORPHA:324575)
Gene: HNF1A
Phenotype: Abnormal circulating C-peptide concentration (HP:0030794)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF1A
Phenotype: Fasting hypoglycemia (HP:0003162)
Associated disease: Hyperinsulinemic hypoglycemia due to HNF1A deficiency; Hyperinsulinism due to HNF1A deficiency (ORPHA:324575)
Gene: HNF1A
Phenotype: Insulin resistance (HP:0000855)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: HNF1A
Phenotype: Insulin-resistant diabetes mellitus (HP:0000831)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF1A
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Hyperinsulinemic hypoglycemia due to HNF1A deficiency; Hyperinsulinism due to HNF1A deficiency (ORPHA:324575)
Gene: HNF1A
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: TYPE 1 DIABETES MELLITUS (OMIM:222100)
Gene: HNF1A
Phenotype: Hyperinsulinemic hypoglycemia (HP:0000825)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF1A
Phenotype: Hyperinsulinemic hypoglycemia (HP:0000825)
Associated disease: Hyperinsulinemic hypoglycemia due to HNF1A deficiency; Hyperinsulinism due to HNF1A deficiency (ORPHA:324575)
Gene: HNF1A
Phenotype: Abnormal circulating insulin concentration (HP:0040214)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF1A
Phenotype: Elevated hemoglobin A1c (HP:0040217)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF1A
Phenotype: Hypoinsulinemia (HP:0040216)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF1A
Phenotype: Pallor (HP:0000980)
Associated disease: Hyperinsulinemic hypoglycemia due to HNF1A deficiency; Hyperinsulinism due to HNF1A deficiency (ORPHA:324575)
Gene: HNF1A
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF1A
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF1A
Phenotype: Overweight (HP:0025502)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF1A
Phenotype: Large for gestational age (HP:0001520)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF1A
Phenotype: Large for gestational age (HP:0001520)
Associated disease: Hyperinsulinemic hypoglycemia due to HNF1A deficiency; Hyperinsulinism due to HNF1A deficiency (ORPHA:324575)
Gene: HNF1A
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Hyperinsulinemic hypoglycemia due to HNF1A deficiency; Hyperinsulinism due to HNF1A deficiency (ORPHA:324575)
Gene: HNF1A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF1A
Phenotype: Obesity (HP:0001513)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF1A
Phenotype: Tachycardia (HP:0001649)
Associated disease: Hyperinsulinemic hypoglycemia due to HNF1A deficiency; Hyperinsulinism due to HNF1A deficiency (ORPHA:324575)
Gene: HNF1A
Phenotype: Autoimmunity (HP:0002960)
Associated disease: TYPE 1 DIABETES MELLITUS (OMIM:222100)
Gene: HNF1A
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF1A
Phenotype: Retinopathy (HP:0000488)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: HNF1B
Phenotype: Language impairment (HP:0002463)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: HNF1B
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: RENAL CYSTS AND DIABETES SYNDROME (OMIM:137920)
Gene: HNF1B
Phenotype: Sporadic (HP:0003745)
Associated disease: RENAL CELL CARCINOMA, NONPAPILLARY (OMIM:144700)
Gene: HNF1B
Phenotype: Aplasia/Hypoplasia of the pancreas (HP:0100800)
Associated disease: HNF1B-MODY; Maturity-onset diabetes of the young type 5; RCAD syndrome; Renal cysts and diabetes syndrome; HNF1B-related autosomal dominant tubulointerstitial kidney disease; Renal dysfunction-early-onset diabetes syndrome; MODY5; HNF1B-related nephropathy; ADTKD-HNF1B (ORPHA:93111)
Gene: HNF1B
Phenotype: Pancreatic aplasia (HP:0100801)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: HNF1B
Phenotype: Glomerulopathy (HP:0100820)
Associated disease: HNF1B-MODY; Maturity-onset diabetes of the young type 5; RCAD syndrome; Renal cysts and diabetes syndrome; HNF1B-related autosomal dominant tubulointerstitial kidney disease; Renal dysfunction-early-onset diabetes syndrome; MODY5; HNF1B-related nephropathy; ADTKD-HNF1B (ORPHA:93111)
Gene: HNF1B
Phenotype: Seizure (HP:0001250)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: HNF1B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: HNF1B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HNF1B-MODY; Maturity-onset diabetes of the young type 5; RCAD syndrome; Renal cysts and diabetes syndrome; HNF1B-related autosomal dominant tubulointerstitial kidney disease; Renal dysfunction-early-onset diabetes syndrome; MODY5; HNF1B-related nephropathy; ADTKD-HNF1B (ORPHA:93111)
Gene: HNF1B
Phenotype: Pancreatic hypoplasia (HP:0002594)
Associated disease: RENAL CYSTS AND DIABETES SYNDROME (OMIM:137920)
Gene: HNF1B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: HNF1B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HNF1B-MODY; Maturity-onset diabetes of the young type 5; RCAD syndrome; Renal cysts and diabetes syndrome; HNF1B-related autosomal dominant tubulointerstitial kidney disease; Renal dysfunction-early-onset diabetes syndrome; MODY5; HNF1B-related nephropathy; ADTKD-HNF1B (ORPHA:93111)
Gene: HNF1B
Phenotype: Aplasia/hypoplasia of the uterus (HP:0008684)
Associated disease: Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome; Atypical MRKH syndrome; MRKH syndrome type 2; MURCS association; Mayer-Rokitansky-Küster-Hauser syndrome type 2 (ORPHA:2578)
Gene: HNF1B
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: HNF1B
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: RENAL CYSTS AND DIABETES SYNDROME (OMIM:137920)
Gene: HNF1B
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: HNF1B
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: HNF1B-MODY; Maturity-onset diabetes of the young type 5; RCAD syndrome; Renal cysts and diabetes syndrome; HNF1B-related autosomal dominant tubulointerstitial kidney disease; Renal dysfunction-early-onset diabetes syndrome; MODY5; HNF1B-related nephropathy; ADTKD-HNF1B (ORPHA:93111)
Gene: HNF1B
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome; Atypical MRKH syndrome; MRKH syndrome type 2; MURCS association; Mayer-Rokitansky-Küster-Hauser syndrome type 2 (ORPHA:2578)
Gene: HNF1B
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: HNF1B-MODY; Maturity-onset diabetes of the young type 5; RCAD syndrome; Renal cysts and diabetes syndrome; HNF1B-related autosomal dominant tubulointerstitial kidney disease; Renal dysfunction-early-onset diabetes syndrome; MODY5; HNF1B-related nephropathy; ADTKD-HNF1B (ORPHA:93111)
Gene: HNF1B
Phenotype: Proteinuria (HP:0000093)
Associated disease: RENAL CYSTS AND DIABETES SYNDROME (OMIM:137920)
Gene: HNF1B
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: HNF1B-MODY; Maturity-onset diabetes of the young type 5; RCAD syndrome; Renal cysts and diabetes syndrome; HNF1B-related autosomal dominant tubulointerstitial kidney disease; Renal dysfunction-early-onset diabetes syndrome; MODY5; HNF1B-related nephropathy; ADTKD-HNF1B (ORPHA:93111)
Gene: HNF1B
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: RENAL CYSTS AND DIABETES SYNDROME (OMIM:137920)
Gene: HNF1B
Phenotype: Abnormality of the genital system (HP:0000078)
Associated disease: RENAL CYSTS AND DIABETES SYNDROME (OMIM:137920)
Gene: HNF1B
Phenotype: Ureteropelvic junction obstruction (HP:0000074)
Associated disease: RENAL CYSTS AND DIABETES SYNDROME (OMIM:137920)
Gene: HNF1B
Phenotype: Ureterocele (HP:0000070)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: HNF1B
Phenotype: Arthritis (HP:0001369)
Associated disease: HNF1B-MODY; Maturity-onset diabetes of the young type 5; RCAD syndrome; Renal cysts and diabetes syndrome; HNF1B-related autosomal dominant tubulointerstitial kidney disease; Renal dysfunction-early-onset diabetes syndrome; MODY5; HNF1B-related nephropathy; ADTKD-HNF1B (ORPHA:93111)
Gene: HNF1B
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: HNF1B-MODY; Maturity-onset diabetes of the young type 5; RCAD syndrome; Renal cysts and diabetes syndrome; HNF1B-related autosomal dominant tubulointerstitial kidney disease; Renal dysfunction-early-onset diabetes syndrome; MODY5; HNF1B-related nephropathy; ADTKD-HNF1B (ORPHA:93111)
Gene: HNF1B
Phenotype: Hypospadias (HP:0000047)
Associated disease: RENAL CYSTS AND DIABETES SYNDROME (OMIM:137920)
Gene: HNF1B
Phenotype: Hypospadias (HP:0000047)
Associated disease: HNF1B-MODY; Maturity-onset diabetes of the young type 5; RCAD syndrome; Renal cysts and diabetes syndrome; HNF1B-related autosomal dominant tubulointerstitial kidney disease; Renal dysfunction-early-onset diabetes syndrome; MODY5; HNF1B-related nephropathy; ADTKD-HNF1B (ORPHA:93111)
Gene: HNF1B
Phenotype: Shawl scrotum (HP:0000049)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: HNF1B
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: HNF1B
Phenotype: Azoospermia (HP:0000027)
Associated disease: Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome; Atypical MRKH syndrome; MRKH syndrome type 2; MURCS association; Mayer-Rokitansky-Küster-Hauser syndrome type 2 (ORPHA:2578)
Gene: HNF1B
Phenotype: Abnormality of exocrine pancreas physiology (HP:0012092)
Associated disease: HNF1B-MODY; Maturity-onset diabetes of the young type 5; RCAD syndrome; Renal cysts and diabetes syndrome; HNF1B-related autosomal dominant tubulointerstitial kidney disease; Renal dysfunction-early-onset diabetes syndrome; MODY5; HNF1B-related nephropathy; ADTKD-HNF1B (ORPHA:93111)
Gene: HNF1B
Phenotype: Abnormality of endocrine pancreas physiology (HP:0012093)
Associated disease: HNF1B-MODY; Maturity-onset diabetes of the young type 5; RCAD syndrome; Renal cysts and diabetes syndrome; HNF1B-related autosomal dominant tubulointerstitial kidney disease; Renal dysfunction-early-onset diabetes syndrome; MODY5; HNF1B-related nephropathy; ADTKD-HNF1B (ORPHA:93111)
Gene: HNF1B
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: RENAL CYSTS AND DIABETES SYNDROME (OMIM:137920)
Gene: HNF1B
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: HNF1B
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: HNF1B-MODY; Maturity-onset diabetes of the young type 5; RCAD syndrome; Renal cysts and diabetes syndrome; HNF1B-related autosomal dominant tubulointerstitial kidney disease; Renal dysfunction-early-onset diabetes syndrome; MODY5; HNF1B-related nephropathy; ADTKD-HNF1B (ORPHA:93111)
Gene: HNF1B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RENAL CYSTS AND DIABETES SYNDROME (OMIM:137920)
Gene: HNF1B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: HNF1B
Phenotype: Subcortical cerebral atrophy (HP:0012157)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: HNF1B
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: RENAL CYSTS AND DIABETES SYNDROME (OMIM:137920)
Gene: HNF1B
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome; Atypical MRKH syndrome; MRKH syndrome type 2; MURCS association; Mayer-Rokitansky-Küster-Hauser syndrome type 2 (ORPHA:2578)
Gene: HNF1B
Phenotype: Renal cyst (HP:0000107)
Associated disease: RENAL CYSTS AND DIABETES SYNDROME (OMIM:137920)
Gene: HNF1B
Phenotype: Renal agenesis (HP:0000104)
Associated disease: HNF1B-MODY; Maturity-onset diabetes of the young type 5; RCAD syndrome; Renal cysts and diabetes syndrome; HNF1B-related autosomal dominant tubulointerstitial kidney disease; Renal dysfunction-early-onset diabetes syndrome; MODY5; HNF1B-related nephropathy; ADTKD-HNF1B (ORPHA:93111)
Gene: HNF1B
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome; Atypical MRKH syndrome; MRKH syndrome type 2; MURCS association; Mayer-Rokitansky-Küster-Hauser syndrome type 2 (ORPHA:2578)
Gene: HNF1B
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: HNF1B-MODY; Maturity-onset diabetes of the young type 5; RCAD syndrome; Renal cysts and diabetes syndrome; HNF1B-related autosomal dominant tubulointerstitial kidney disease; Renal dysfunction-early-onset diabetes syndrome; MODY5; HNF1B-related nephropathy; ADTKD-HNF1B (ORPHA:93111)
Gene: HNF1B
Phenotype: Atretic vas deferens (HP:0030997)
Associated disease: RENAL CYSTS AND DIABETES SYNDROME (OMIM:137920)
Gene: HNF1B
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: HNF1B
Phenotype: Pancreatic atrophy (HP:6000156)
Associated disease: RENAL CYSTS AND DIABETES SYNDROME (OMIM:137920)
Gene: HNF1B
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: HNF1B
Phenotype: Impaired glucose tolerance (HP:0040270)
Associated disease: RENAL CYSTS AND DIABETES SYNDROME (OMIM:137920)