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

Grandparent Node:
Atrophy/Degeneration affecting the central nervous system (HP:0007367)

Grandparent Node:
Morphological abnormality of the corticospinal tract (HP:0002492)

Parent Node:
Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)

..Starting node
..Corticospinal tract atrophy (HP:0007117)

Term ID:

7117

Name:

Corticospinal tract atrophy

Synonym:

Definition:

Comments:

Reference:

HP:0007117

Genes and Diseases:

Child Nodes:

Sister Nodes:

Degeneration of the lateral corticospinal tracts (HP:0002314)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007117	HP:0007117	Corticospinal tract atrophy	0	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome	HP:0040282 - Frequent
HP:0007117	HP:0007117	Corticospinal tract atrophy	0	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa	.

Genes (1) :ATP6

Diseases (2) :ORPHA:644 OMIM:551500

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