Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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

Grandparent Node:
Morphological central nervous system abnormality (HP:0002011)

Parent Node:
Abnormality of brain morphology (HP:0012443)

..Starting node
..Kernicterus (HP:0001343)

Term ID:

1343

Name:

Kernicterus

Synonym:

Definition:

Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction.

Comments:

Reference:

HP:0001343

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal brainstem morphology (HP:0002363)

Abnormal cerebral vascular morphology (HP:0100659)

Abnormal cerebral ventricle morphology (HP:0002118)

Abnormal forebrain morphology (HP:0100547)

Abnormal hindbrain morphology (HP:0011282)

Abnormal midbrain morphology (HP:0002418)

Abnormal pineal morphology (HP:0012681)

Abnormality of the pituitary gland (HP:0012503)

Copper accumulation in brain (HP:0012676)

Holoprosencephaly (HP:0001360)

Iron accumulation in brain (HP:0012675)

obsolete Brain very small (HP:0001322)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001343	HP:0001343	Kernicterus	0	RHD CL E G H	6007	10009	OMIM:619462	Hemolytic disease of fetus and newborn, RH-induced		16
HP:0001343	HP:0001343	Kernicterus	0	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1	HP:0040281 - Very frequent	73
HP:0001343	HP:0001343	Kernicterus	0	UGT1A1 CL E G H	54658	12530	OMIM:218800	Crigler-Najjar syndrome, type I		73
HP:0001343	HP:0001343	Kernicterus	0	UGT1A1 CL E G H	54658	12530	OMIM:237900	Hyperbilirubinemia, familial transient neonatal	.	73

Genes (2) :RHD UGT1A1

Diseases (4) :OMIM:619462 ORPHA:79234 OMIM:218800 OMIM:237900

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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