Human Phenotype Ontology

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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

..Starting node
..Substantia nigra hypointensity on susceptibility-weighted imaging (HP:0033048)

Term ID:

33048

Name:

Substantia nigra hypointensity on susceptibility-weighted imaging

Synonym:

Low signal intensity in the substantia nigra on susceptibility-weighted imaging (SWI)

Definition:

Hypointence (dark) appearance of the substantia nigra inmagnetic resonance imaging using susceptibility weighted imaging (SWI).

Comments:

Reference:

HP:0033048

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0033048	HP:0033048	Substantia nigra hypointensity on susceptibility-weighted imaging	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0033048	HP:0033048	Substantia nigra hypointensity on susceptibility-weighted imaging	0	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC	1

Genes (2) :GTPBP2 SLC44A1

Diseases (2) :OMIM:617988 OMIM:618868

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