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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Brain Diseases, Metabolic (D001928)
Parent Node: Erythroblastosis, Fetal (D004899)
Parent Node: Hyperbilirubinemia (D006932)
..Starting node ..Kernicterus (D007647)
Child Nodes:
Sister Nodes:
..Hyperbilirubinemia, Neonatal (D051556) 4
..Jaundice (D007565) 6
..Kernicterus (D007647)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	6087
Name:	Kernicterus
Definition:	A term used pathologically to describe BILIRUBIN staining of the BASAL GANGLIA; BRAIN STEM; and CEREBELLUM and clinically to describe a syndrome associated with HYPERBILIRUBINEMIA. Clinical features include athetosis, MUSCLE SPASTICITY or hypotonia, impaired vertical gaze, and DEAFNESS. Nonconjugated bilirubin enters the brain and acts as a neurotoxin, often in association with conditions that impair the BLOOD-BRAIN BARRIER (e.g., SEPSIS). This condition occurs primarily in neonates (INFANT, NEWBORN), but may rarely occur in adults. (Menkes, Textbook of Child Neurology, 5th ed, p613)
Alternative IDs:
ParentIDs:	MESH:D001928\|MESH:D004899\|MESH:D006932
TreeNumbers:	C10.228.140.163.480 \|C15.378.295.502 \|C16.614.304.502 \|C18.452.132.480 \|C20.306.502 \|C23.550.429.750
Synonyms:	Bilirubin Encephalopathies \|Bilirubin Encephalopathy \|Encephalopathies, Bilirubin \|Encephalopathies, Hyperbilirubinemic \|Encephalopathy, Bilirubin \|Encephalopathy, Hyperbilirubinemic \|Hyperbilirubinemic Encephalopathies \|Hyperbilirubinemic Encephalopathy
Slim Mappings:	Blood disease\|Immune system disease\|Infant-newborn disease\|Metabolic disease\|Nervous system disease\|Pathology (process)
Reference:	MedGen: D007647 MeSH: D007647 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants