TaoMedAI/RareMedData huggingface dataset:
Gene: INSR
Phenotype: Microcephaly (HP:0000252)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Furrowed tongue (HP:0000221)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: High palate (HP:0000218)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: High palate (HP:0000218)
Associated disease: PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES (OMIM:262190)
Gene: INSR
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Failure to thrive (HP:0001508)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Small for gestational age (HP:0001518)
Associated disease: PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES (OMIM:262190)
Gene: INSR
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Fatigue (HP:0012378)
Associated disease: Hyperinsulinism due to INSR deficiency; Hyperinsulinemic hypoglycemia due to INSR deficiency; Hyperinsulinemic hypoglycemia due to insulin receptor deficiency (ORPHA:263458)
Gene: INSR
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Low-set ears (HP:0000369)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Low-set ears (HP:0000369)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Lichenoid skin lesion (HP:0031452)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Pointed chin (HP:0000307)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES (OMIM:262190)
Gene: INSR
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Macrotia (HP:0000400)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Macrotia (HP:0000400)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Retinopathy (HP:0000488)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Wide nose (HP:0000445)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Wide nose (HP:0000445)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Medullary nephrocalcinosis (HP:0012408)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Protruding ear (HP:0000411)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Splenomegaly (HP:0001744)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Proptosis (HP:0000520)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Long foot (HP:0001833)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Long foot (HP:0001833)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Increased circulating androgen concentration (HP:0030348)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Onychauxis (HP:0012542)
Associated disease: PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES (OMIM:262190)
Gene: INSR
Phenotype: Onychauxis (HP:0012542)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: PDX1
Phenotype: Abnormality of the upper urinary tract (HP:0010935)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: PDX1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: PDX1
Phenotype: Pancreatic aplasia (HP:0100801)
Associated disease: PANCREATIC AGENESIS 1 (OMIM:260370)
Gene: PDX1
Phenotype: Motor delay (HP:0001270)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: PDX1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: PDX1
Phenotype: Ataxia (HP:0001251)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: PDX1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: PDX1
Phenotype: Pancreatic hypoplasia (HP:0002594)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PDX1
Phenotype: Pancreatic hypoplasia (HP:0002594)
Associated disease: PANCREATIC AGENESIS 1 (OMIM:260370)
Gene: PDX1
Phenotype: Pancreatic hypoplasia (HP:0002594)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: PDX1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: PDX1
Phenotype: Coma (HP:0001259)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: PDX1
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PDX1
Phenotype: Hepatocellular adenoma (HP:0012028)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PDX1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PANCREATIC AGENESIS 1 (OMIM:260370)
Gene: PDX1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4 (OMIM:606392)
Gene: PDX1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: PDX1
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: PDX1
Phenotype: Reduced pancreatic beta cells (HP:0006274)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: PDX1
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PDX1
Phenotype: Renal tubular dysfunction (HP:0000124)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: PDX1
Phenotype: Nephropathy (HP:0000112)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PDX1
Phenotype: Renal cyst (HP:0000107)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PDX1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: PDX1
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4 (OMIM:606392)
Gene: PDX1
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: PDX1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: PDX1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: PDX1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: PDX1
Phenotype: Apraxia (HP:0002186)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: PDX1
Phenotype: Transient neonatal diabetes mellitus (HP:0008255)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PDX1
Phenotype: Congenital onset (HP:0003577)
Associated disease: PANCREATIC AGENESIS 1 (OMIM:260370)
Gene: PDX1
Phenotype: Late onset (HP:0003584)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: PDX1
Phenotype: Abnormal oral glucose tolerance (HP:0004924)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PDX1
Phenotype: Maturity-onset diabetes of the young (HP:0004904)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4 (OMIM:606392)
Gene: PDX1
Phenotype: Increased waist to hip ratio (HP:0031819)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: PDX1
Phenotype: Dehydration (HP:0001944)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: PDX1
Phenotype: Diabetic ketoacidosis (HP:0001953)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PDX1
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PDX1
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PDX1
Phenotype: Glycosuria (HP:0003076)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PDX1
Phenotype: Glycosuria (HP:0003076)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: PDX1
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PDX1
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: PDX1
Phenotype: Fetal onset (HP:0011461)
Associated disease: PANCREATIC AGENESIS 1 (OMIM:260370)
Gene: PDX1
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: PDX1
Phenotype: Lower-limb joint contracture (HP:0005750)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: PDX1
Phenotype: Reduced C-peptide level (HP:0030795)
Associated disease: PANCREATIC AGENESIS 1 (OMIM:260370)
Gene: PDX1
Phenotype: Abnormal circulating C-peptide concentration (HP:0030794)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PDX1
Phenotype: Insulin resistance (HP:0000855)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: PDX1
Phenotype: Neonatal insulin-dependent diabetes mellitus (HP:0000857)
Associated disease: PANCREATIC AGENESIS 1 (OMIM:260370)
Gene: PDX1
Phenotype: Neonatal insulin-dependent diabetes mellitus (HP:0000857)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: PDX1
Phenotype: Insulin-resistant diabetes mellitus (HP:0000831)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PDX1
Phenotype: Hyperinsulinemic hypoglycemia (HP:0000825)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PDX1
Phenotype: Abnormal circulating insulin concentration (HP:0040214)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PDX1
Phenotype: Elevated hemoglobin A1c (HP:0040217)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PDX1
Phenotype: Hypoinsulinemia (HP:0040216)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PDX1
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PDX1
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PDX1
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: PDX1
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: PDX1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: PANCREATIC AGENESIS 1 (OMIM:260370)
Gene: PDX1
Phenotype: Overweight (HP:0025502)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PDX1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PANCREATIC AGENESIS 1 (OMIM:260370)
Gene: PDX1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: PDX1
Phenotype: Large for gestational age (HP:0001520)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PDX1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: PANCREATIC AGENESIS 1 (OMIM:260370)
Gene: PDX1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PDX1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: PDX1
Phenotype: Obesity (HP:0001513)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PDX1
Phenotype: Ketonuria (HP:0002919)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: PDX1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: PDX1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: PDX1
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PDX1
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: PANCREATIC AGENESIS 1 (OMIM:260370)
Gene: PDX1
Phenotype: Retinopathy (HP:0000488)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PDX1
Phenotype: Retinopathy (HP:0000488)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: PDX1
Phenotype: Hypovolemia (HP:0011106)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: PDX1
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: PDX1
Phenotype: Weight loss (HP:0001824)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: PDX1
Phenotype: Moderate albuminuria (HP:0012594)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: IPW
Phenotype: Syndactyly (HP:0001159)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Sporadic (HP:0003745)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Motor delay (HP:0001270)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Seizure (HP:0001250)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Polyphagia (HP:0002591)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Small scrotum (HP:0000046)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Micropenis (HP:0000054)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Generalized hypopigmentation (HP:0007513)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Specific learning disability (HP:0001328)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Scoliosis (HP:0002650)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Hypoventilation (HP:0002791)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Poor suck (HP:0002033)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Temperature instability (HP:0005968)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Low 5-minute APGAR score (HP:0030919)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Low 1-minute APGAR score (HP:0030918)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Sleep apnea (HP:0010535)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Congenital onset (HP:0003577)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Frontal upsweep of hair (HP:0002236)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Poor gross motor coordination (HP:0007015)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Small hand (HP:0200055)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Tube feeding (HP:0033454)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Acromicria (HP:0031878)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Narrow palm (HP:0004283)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Short palm (HP:0004279)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Carious teeth (HP:0000670)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Short stature (HP:0004322)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Abdominal obesity (HP:0012743)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Autism (HP:0000717)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Psychosis (HP:0000709)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Atypical behavior (HP:0000708)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Fetal onset (HP:0011461)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Infertility (HP:0000789)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: IPW
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)