TaoMedAI/RareMedData huggingface dataset:
Gene: STXBP2
Phenotype: Increased circulating interleukin 6 concentration (HP:0030783)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 (OMIM:613101)
Gene: STXBP2
Phenotype: Abnormality of the coagulation cascade (HP:0003256)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Purpura (HP:0000979)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Skin rash (HP:0000988)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Jaundice (HP:0000952)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Petechiae (HP:0000967)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Maculopapular exanthema (HP:0040186)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: CSF pleocytosis (HP:0012229)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Abnormal renal physiology (HP:0012211)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Ecchymosis (HP:0031364)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 (OMIM:613101)
Gene: STXBP2
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Immune dysregulation (HP:0002958)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Abnormality of tumor necrosis factor secretion (HP:0011118)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Abnormal skin morphology (HP:0011121)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 (OMIM:613101)
Gene: STXBP2
Phenotype: Abnormal circulating cytokine concentration (HP:0011112)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 (OMIM:613101)
Gene: STXBP2
Phenotype: Increased circulating interferon-gamma concentration (HP:0030356)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 (OMIM:613101)
Gene: STXBP2
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: SULT2B1
Phenotype: Sepsis (HP:0100806)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SULT2B1
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SULT2B1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SULT2B1
Phenotype: Congenital nonbullous ichthyosiform erythroderma (HP:0007479)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14 (OMIM:617571)
Gene: SULT2B1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14 (OMIM:617571)
Gene: SULT2B1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SULT2B1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SULT2B1
Phenotype: Congenital onset (HP:0003577)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14 (OMIM:617571)
Gene: SULT2B1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SULT2B1
Phenotype: Gangrene (HP:0100758)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SULT2B1
Phenotype: Erythroderma (HP:0001019)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: SULT2B1
Phenotype: Erythroderma (HP:0001019)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SULT2B1
Phenotype: Corneal erosion (HP:0200020)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: SULT2B1
Phenotype: Orthokeratotic hyperkeratosis (HP:0025080)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14 (OMIM:617571)
Gene: SULT2B1
Phenotype: Lack of skin elasticity (HP:0100679)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SULT2B1
Phenotype: Erythema (HP:0010783)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14 (OMIM:617571)
Gene: SULT2B1
Phenotype: Dehydration (HP:0001944)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SULT2B1
Phenotype: Ectropion (HP:0000656)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: SULT2B1
Phenotype: Ectropion (HP:0000656)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SULT2B1
Phenotype: Short stature (HP:0004322)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SULT2B1
Phenotype: Short stature (HP:0004322)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: SULT2B1
Phenotype: Pruritus (HP:0000989)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SULT2B1
Phenotype: Pruritus (HP:0000989)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14 (OMIM:617571)
Gene: SULT2B1
Phenotype: Pruritus (HP:0000989)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: SULT2B1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: SULT2B1
Phenotype: Dry skin (HP:0000958)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SULT2B1
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: SULT2B1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SULT2B1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14 (OMIM:617571)
Gene: SULT2B1
Phenotype: Sparse hair (HP:0008070)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SULT2B1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SULT2B1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: SULT2B1
Phenotype: Scaling skin (HP:0040189)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14 (OMIM:617571)
Gene: SULT2B1
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: SULT2B1
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SULT2B1
Phenotype: Alopecia (HP:0001596)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: SULT2B1
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SULT2B1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: SULT2B1
Phenotype: Abnormal helix morphology (HP:0011039)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SULT2B1
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SULT2B1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: SULT2B1
Phenotype: Keratitis (HP:0000491)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: SUOX
Phenotype: Generalized dystonia (HP:0007325)
Associated disease: SULFITE OXIDASE DEFICIENCY, ISOLATED (OMIM:272300)
Gene: SUOX
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: SULFITE OXIDASE DEFICIENCY, ISOLATED (OMIM:272300)
Gene: SUOX
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SULFITE OXIDASE DEFICIENCY, ISOLATED (OMIM:272300)
Gene: SUOX
Phenotype: Hypertonia (HP:0001276)
Associated disease: SULFITE OXIDASE DEFICIENCY, ISOLATED (OMIM:272300)
Gene: SUOX
Phenotype: Ataxia (HP:0001251)
Associated disease: SULFITE OXIDASE DEFICIENCY, ISOLATED (OMIM:272300)
Gene: SUOX
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: SULFITE OXIDASE DEFICIENCY, ISOLATED (OMIM:272300)
Gene: SUOX
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SULFITE OXIDASE DEFICIENCY, ISOLATED (OMIM:272300)
Gene: SUOX
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: SULFITE OXIDASE DEFICIENCY, ISOLATED (OMIM:272300)
Gene: SUOX
Phenotype: Sulfocysteinuria (HP:0032350)
Associated disease: SULFITE OXIDASE DEFICIENCY, ISOLATED (OMIM:272300)
Gene: SUOX
Phenotype: Absent speech (HP:0001344)
Associated disease: SULFITE OXIDASE DEFICIENCY, ISOLATED (OMIM:272300)
Gene: SUOX
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SULFITE OXIDASE DEFICIENCY, ISOLATED (OMIM:272300)
Gene: SUOX
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: SULFITE OXIDASE DEFICIENCY, ISOLATED (OMIM:272300)
Gene: SUOX
Phenotype: Floppy infant (HP:0008947)
Associated disease: SULFITE OXIDASE DEFICIENCY, ISOLATED (OMIM:272300)
Gene: SUOX
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: SULFITE OXIDASE DEFICIENCY, ISOLATED (OMIM:272300)
Gene: SUOX
Phenotype: Decreased urinary sulfate (HP:0003359)
Associated disease: SULFITE OXIDASE DEFICIENCY, ISOLATED (OMIM:272300)
Gene: SUOX
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: SULFITE OXIDASE DEFICIENCY, ISOLATED (OMIM:272300)
Gene: SUOX
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: SULFITE OXIDASE DEFICIENCY, ISOLATED (OMIM:272300)
Gene: SUOX
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: SULFITE OXIDASE DEFICIENCY, ISOLATED (OMIM:272300)
Gene: SUOX
Phenotype: Fine hair (HP:0002213)
Associated disease: SULFITE OXIDASE DEFICIENCY, ISOLATED (OMIM:272300)
Gene: SUOX
Phenotype: Increased urinary sulfite level (HP:0011942)
Associated disease: SULFITE OXIDASE DEFICIENCY, ISOLATED (OMIM:272300)
Gene: SUOX
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: SULFITE OXIDASE DEFICIENCY, ISOLATED (OMIM:272300)
Gene: SUOX
Phenotype: Dyskinesia (HP:0100660)
Associated disease: SULFITE OXIDASE DEFICIENCY, ISOLATED (OMIM:272300)
Gene: SUOX
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: SULFITE OXIDASE DEFICIENCY, ISOLATED (OMIM:272300)
Gene: SUOX
Phenotype: Hemiplegia (HP:0002301)
Associated disease: SULFITE OXIDASE DEFICIENCY, ISOLATED (OMIM:272300)
Gene: SUOX
Phenotype: Neonatal onset (HP:0003623)
Associated disease: SULFITE OXIDASE DEFICIENCY, ISOLATED (OMIM:272300)
Gene: SUOX
Phenotype: Sulfite oxidase deficiency (HP:0003643)
Associated disease: SULFITE OXIDASE DEFICIENCY, ISOLATED (OMIM:272300)
Gene: SUOX
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: SULFITE OXIDASE DEFICIENCY, ISOLATED (OMIM:272300)
Gene: SUOX
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: SULFITE OXIDASE DEFICIENCY, ISOLATED (OMIM:272300)
Gene: SUOX
Phenotype: Agitation (HP:0000713)
Associated disease: SULFITE OXIDASE DEFICIENCY, ISOLATED (OMIM:272300)
Gene: SUOX
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: SULFITE OXIDASE DEFICIENCY, ISOLATED (OMIM:272300)
Gene: SUOX
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: SULFITE OXIDASE DEFICIENCY, ISOLATED (OMIM:272300)
Gene: SUOX
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: SULFITE OXIDASE DEFICIENCY, ISOLATED (OMIM:272300)
Gene: SUOX
Phenotype: Microcephaly (HP:0000252)
Associated disease: SULFITE OXIDASE DEFICIENCY, ISOLATED (OMIM:272300)
Gene: SUOX
Phenotype: Death in infancy (HP:0001522)
Associated disease: SULFITE OXIDASE DEFICIENCY, ISOLATED (OMIM:272300)
Gene: SUOX
Phenotype: Narrow forehead (HP:0000341)
Associated disease: SULFITE OXIDASE DEFICIENCY, ISOLATED (OMIM:272300)
Gene: SUOX
Phenotype: Macrotia (HP:0000400)
Associated disease: SULFITE OXIDASE DEFICIENCY, ISOLATED (OMIM:272300)
Gene: SUOX
Phenotype: Deeply set eye (HP:0000490)
Associated disease: SULFITE OXIDASE DEFICIENCY, ISOLATED (OMIM:272300)
Gene: ABCC8
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: ABCC8
Phenotype: Thickened ears (HP:0009894)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: ABCC8
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: ABCC8
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 3 (OMIM:618857)
Gene: ABCC8
Phenotype: Motor delay (HP:0001270)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: ABCC8
Phenotype: Motor delay (HP:0001270)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 3 (OMIM:618857)
Gene: ABCC8
Phenotype: Syncope (HP:0001279)
Associated disease: Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency; Autosomal dominant hyperinsulinism due to SUR1 deficiency (ORPHA:276575)
Gene: ABCC8
Phenotype: Lethargy (HP:0001254)
Associated disease: Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency; Autosomal dominant hyperinsulinism due to SUR1 deficiency (ORPHA:276575)
Gene: ABCC8
Phenotype: Seizure (HP:0001250)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ABCC8
Phenotype: Seizure (HP:0001250)
Associated disease: HYPOGLYCEMIA, LEUCINE-INDUCED (OMIM:240800)
Gene: ABCC8
Phenotype: Seizure (HP:0001250)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: ABCC8
Phenotype: Hypotonia (HP:0001252)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: ABCC8
Phenotype: Hypotonia (HP:0001252)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ABCC8
Phenotype: Ataxia (HP:0001251)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: ABCC8
Phenotype: Ataxia (HP:0001251)
Associated disease: HYPOGLYCEMIA, LEUCINE-INDUCED (OMIM:240800)
Gene: ABCC8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: ABCC8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1 (OMIM:256450)
Gene: ABCC8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HYPOGLYCEMIA, LEUCINE-INDUCED (OMIM:240800)
Gene: ABCC8
Phenotype: Pancreatic hypoplasia (HP:0002594)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: ABCC8
Phenotype: Pancreatic hypoplasia (HP:0002594)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: ABCC8
Phenotype: Polyphagia (HP:0002591)
Associated disease: Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency; Autosomal dominant hyperinsulinism due to SUR1 deficiency (ORPHA:276575)
Gene: ABCC8
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: ABCC8
Phenotype: Spasticity (HP:0001257)
Associated disease: HYPOGLYCEMIA, LEUCINE-INDUCED (OMIM:240800)
Gene: ABCC8
Phenotype: Coma (HP:0001259)
Associated disease: HYPOGLYCEMIA, LEUCINE-INDUCED (OMIM:240800)
Gene: ABCC8
Phenotype: Coma (HP:0001259)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: ABCC8
Phenotype: Excessive insulin response to glucagon test (HP:0031084)
Associated disease: Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency; Autosomal dominant hyperinsulinism due to SUR1 deficiency (ORPHA:276575)
Gene: ABCC8
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: ABCC8
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: ABCC8
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ABCC8
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ABCC8
Phenotype: Hepatocellular adenoma (HP:0012028)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: ABCC8
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: HYPOGLYCEMIA, LEUCINE-INDUCED (OMIM:240800)
Gene: ABCC8
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: ABCC8
Phenotype: Muscle weakness (HP:0001324)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 3 (OMIM:618857)
Gene: ABCC8
Phenotype: Hypoglycemic coma (HP:0001325)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1 (OMIM:256450)
Gene: ABCC8
Phenotype: Hypoglycemic coma (HP:0001325)
Associated disease: Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency; Autosomal dominant hyperinsulinism due to SUR1 deficiency (ORPHA:276575)
Gene: ABCC8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1 (OMIM:256450)
Gene: ABCC8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 3 (OMIM:618857)
Gene: ABCC8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (OMIM:610374)
Gene: ABCC8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1 (OMIM:256450)
Gene: ABCC8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: ABCC8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOGLYCEMIA, LEUCINE-INDUCED (OMIM:240800)
Gene: ABCC8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DIABETES MELLITUS, PERMANENT NEONATAL, 3 (OMIM:618857)
Gene: ABCC8
Phenotype: Macroglossia (HP:0000158)
Associated disease: TNDM; Transient neonatal diabetes mellitus (ORPHA:99886)
Gene: ABCC8
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: ABCC8
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: ABCC8
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: ABCC8
Phenotype: Reduced pancreatic beta cells (HP:0006274)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: ABCC8
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: ABCC8
Phenotype: Renal tubular dysfunction (HP:0000124)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: ABCC8
Phenotype: Nephropathy (HP:0000112)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: ABCC8
Phenotype: Renal cyst (HP:0000107)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: ABCC8
Phenotype: Focal pancreatic islet hyperplasia (HP:0031223)
Associated disease: Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency; Autosomal dominant hyperinsulinism due to SUR1 deficiency (ORPHA:276575)
Gene: ABCC8
Phenotype: Diffuse pancreatic islet hyperplasia (HP:0031224)
Associated disease: Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency; Autosomal dominant hyperinsulinism due to SUR1 deficiency (ORPHA:276575)
Gene: ABCC8
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: ABCC8
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: ABCC8
Phenotype: Vomiting (HP:0002013)
Associated disease: Developmental delay-epilepsy-neonatal diabetes syndrome; DEND syndrome (ORPHA:79134)
Gene: ABCC8
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: ABCC8
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (OMIM:610374)
Gene: ABCC8
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)