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:
Skeletal muscle atrophy (HP:0003202)

Parent Node:
Distal amyotrophy (HP:0003693)

..Starting node
..Progressive distal muscular atrophy (HP:0008955)

Term ID:

8955

Name:

Progressive distal muscular atrophy

Synonym:

Definition:

Progressive muscular atrophy affecting muscles in the distal portions of the extremities.

Comments:

Reference:

HP:0008955

Genes and Diseases:

Child Nodes:

Sister Nodes:

Distal lower limb amyotrophy (HP:0008944)

Distal upper limb amyotrophy (HP:0007149)

Interosseus muscle atrophy (HP:0007181)

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:0008955	HP:0008955	Progressive distal muscular atrophy	0	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy	.	78
HP:0008955	HP:0008955	Progressive distal muscular atrophy	0	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4	HP:0040283 - Occasional	244
HP:0008955	HP:0008955	Progressive distal muscular atrophy	0	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.	214

Genes (3) :ASAH1 PNKP TRPV4

Diseases (3) :OMIM:159950 ORPHA:459033 OMIM:181405

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