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
..Thinning of the substantia nigra pars compacta (HP:0034316)

Term ID:

34316

Name:

Thinning of the substantia nigra pars compacta

Synonym:

Definition:

Reduced volume of pars compacta of the substantia nigra.

Comments:

Reference:

HP:0034316

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0034316	HP:0034316	Thinning of the substantia nigra pars compacta	0	NR4A2 CL E G H	4929	7981	OMIM:619911	27

Genes (1) :NR4A2

Diseases (1) :OMIM:619911

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