TaoMedAI/RareMedData huggingface dataset:
Gene: INPPL1
Phenotype: Long philtrum (HP:0000343)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INPPL1
Phenotype: High forehead (HP:0000348)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Micromelia (HP:0002983)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: INPPL1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INPPL1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Opsismodysplasia (ORPHA:2746)
Gene: INPPL1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Short neck (HP:0000470)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Short neck (HP:0000470)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: INPPL1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Short foot (HP:0001773)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Opsismodysplasia (ORPHA:2746)
Gene: INPPL1
Phenotype: Flat occiput (HP:0005469)
Associated disease: Opsismodysplasia (ORPHA:2746)
Gene: INPPL1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INPPL1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Proptosis (HP:0000520)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: Schneckenbecken dysplasia; SLC35D1-CDG; Chondrodysplasia with snail-like pelvis (ORPHA:3144)
Gene: INPPL1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: Opsismodysplasia (ORPHA:2746)
Gene: INPPL1
Phenotype: Shallow orbits (HP:0000586)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: OPSISMODYSPLASIA (OMIM:258480)
Gene: INPPL1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INPPL1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INSL3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CRYPTORCHIDISM, UNILATERAL OR BILATERAL (OMIM:219050)
Gene: INSL3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CRYPTORCHIDISM, UNILATERAL OR BILATERAL (OMIM:219050)
Gene: INSL3
Phenotype: Renal agenesis (HP:0000104)
Associated disease: CRYPTORCHIDISM, UNILATERAL OR BILATERAL (OMIM:219050)
Gene: INSL3
Phenotype: Unilateral cryptorchidism (HP:0012741)
Associated disease: CRYPTORCHIDISM, UNILATERAL OR BILATERAL (OMIM:219050)
Gene: INSR
Phenotype: Large hands (HP:0001176)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Large hands (HP:0001176)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: CNS demyelination (HP:0007305)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Seizure (HP:0001250)
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: Intellectual disability (HP:0001249)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES (OMIM:262190)
Gene: INSR
Phenotype: Coma (HP:0001259)
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: Generalized hyperpigmentation (HP:0007440)
Associated disease: Insulin-resistance syndrome type A (ORPHA:2297)
Gene: INSR
Phenotype: Thick hair (HP:0100874)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Enlarged ovaries (HP:0100879)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Enlarged ovaries (HP:0100879)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES (OMIM:262190)
Gene: INSR
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Labial hypertrophy (HP:0000065)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Labial hypertrophy (HP:0000065)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Cholestasis (HP:0001396)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Long penis (HP:0000040)
Associated disease: PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES (OMIM:262190)
Gene: INSR
Phenotype: Long penis (HP:0000040)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Long penis (HP:0000040)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Long penis (HP:0000040)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Adipose tissue loss (HP:0008887)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Severe postnatal growth retardation (HP:0008850)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Severe intrauterine growth retardation (HP:0008846)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Hypoglycemic coma (HP:0001325)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5 (OMIM:609968)
Gene: INSR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES (OMIM:262190)
Gene: INSR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5 (OMIM:609968)
Gene: INSR
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Macroglossia (HP:0000158)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Ovarian cyst (HP:0000138)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Wide mouth (HP:0000154)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Insulin-resistance syndrome type A (ORPHA:2297)
Gene: INSR
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Advanced eruption of teeth (HP:0006288)
Associated disease: PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES (OMIM:262190)
Gene: INSR
Phenotype: Advanced eruption of teeth (HP:0006288)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Recurrent infections (HP:0002719)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: Insulin-resistance syndrome type A (ORPHA:2297)
Gene: INSR
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Polydactyly (HP:0010442)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Impaired glucose tolerance (HP:0040270)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Hypoglycemic seizures (HP:0002173)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5 (OMIM:609968)
Gene: INSR
Phenotype: Fasting hyperinsulinemia (HP:0008283)
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: Fasting hyperinsulinemia (HP:0008283)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5 (OMIM:609968)
Gene: INSR
Phenotype: Fasting hyperinsulinemia (HP:0008283)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Congenital onset (HP:0003577)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Facial hypertrichosis (HP:0002219)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: Insulin-resistance syndrome type A (ORPHA:2297)
Gene: INSR
Phenotype: Postprandial hyperglycemia (HP:0011998)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Postprandial hyperglycemia (HP:0011998)
Associated disease: PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES (OMIM:262190)
Gene: INSR
Phenotype: Postprandial hyperglycemia (HP:0011998)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Postprandial hyperglycemia (HP:0011998)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Megarectum (HP:0025024)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Hirsutism (HP:0001007)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Hirsutism (HP:0001007)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Thickened skin (HP:0001072)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5 (OMIM:609968)
Gene: INSR
Phenotype: Recurrent infantile hypoglycemia (HP:0004914)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Hypoglycemia (HP:0001943)
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: Hypoglycemia (HP:0001943)
Associated disease: PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES (OMIM:262190)
Gene: INSR
Phenotype: Polydipsia (HP:0001959)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Diabetic ketoacidosis (HP:0001953)
Associated disease: PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES (OMIM:262190)
Gene: INSR
Phenotype: Diabetic ketoacidosis (HP:0001953)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Increased pineal volume (HP:0012686)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Dental crowding (HP:0000678)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Recurrent hypoglycemia (HP:0001988)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Recurrent hypoglycemia (HP:0001988)
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: Decreased body weight (HP:0004325)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Short stature (HP:0004322)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Short stature (HP:0004322)
Associated disease: PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES (OMIM:262190)
Gene: INSR
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: Insulin-resistance syndrome type A (ORPHA:2297)
Gene: INSR
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES (OMIM:262190)
Gene: INSR
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Childhood onset (HP:0011463)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5 (OMIM:609968)
Gene: INSR
Phenotype: Young adult onset (HP:0011462)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5 (OMIM:609968)
Gene: INSR
Phenotype: Elfin facies (HP:0004428)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Prominent nipples (HP:0004405)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Prominent nipples (HP:0004405)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Increased C-peptide level (HP:0030796)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Increased C-peptide level (HP:0030796)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Abnormal circulating C-peptide concentration (HP:0030794)
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: Fasting hypoglycemia (HP:0003162)
Associated disease: PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES (OMIM:262190)
Gene: INSR
Phenotype: Fasting hypoglycemia (HP:0003162)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Fasting hypoglycemia (HP:0003162)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Fasting hypoglycemia (HP:0003162)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Increased circulating aldosterone concentration (HP:0000859)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Insulin resistance (HP:0000855)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Insulin resistance (HP:0000855)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Insulin resistance (HP:0000855)
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: Insulin-resistant diabetes mellitus (HP:0000831)
Associated disease: PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES (OMIM:262190)
Gene: INSR
Phenotype: Insulin-resistant diabetes mellitus (HP:0000831)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Increased circulating renin concentration (HP:0000848)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES (OMIM:262190)
Gene: INSR
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Precocious puberty (HP:0000826)
Associated disease: PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES (OMIM:262190)
Gene: INSR
Phenotype: Precocious puberty (HP:0000826)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Hyperinsulinemic hypoglycemia (HP:0000825)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5 (OMIM:609968)
Gene: INSR
Phenotype: Hyperinsulinemic hypoglycemia (HP:0000825)
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: Hypothyroidism (HP:0000821)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Insulin-resistance syndrome type A (ORPHA:2297)
Gene: INSR
Phenotype: Overgrowth of external genitalia (HP:0003247)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Pancreatic islet-cell hyperplasia (HP:0004510)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Elevated circulating insulin:C-peptide ratio (HP:0034384)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5 (OMIM:609968)
Gene: INSR
Phenotype: Abdominal distention (HP:0003270)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES (OMIM:262190)
Gene: INSR
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Dry skin (HP:0000958)
Associated disease: PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES (OMIM:262190)
Gene: INSR
Phenotype: Dry skin (HP:0000958)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES (OMIM:262190)
Gene: INSR
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Insulin-resistance syndrome type A (ORPHA:2297)
Gene: INSR
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Donohue syndrome; Leprechaunism (ORPHA:508)
Gene: INSR
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Coarse facial features (HP:0000280)
Associated disease: PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES (OMIM:262190)
Gene: INSR
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)
Gene: INSR
Phenotype: Small face (HP:0000274)
Associated disease: DONOHUE SYNDROME (OMIM:246200)
Gene: INSR
Phenotype: Increased serum testosterone level (HP:0030088)
Associated disease: Rabson-Mendenhall syndrome (ORPHA:769)