Human Phenotype Ontology

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:
Skeletal muscle atrophy (HP:0003202)

Parent Node:
Spinal muscular atrophy (HP:0007269)

..Starting node
..Proximal spinal muscular atrophy (HP:0006959)

Term ID:

6959

Name:

Proximal spinal muscular atrophy

Synonym:

Definition:

Proximal spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.

Comments:

Reference:

HP:0006959

Genes and Diseases:

Child Nodes:

Sister Nodes:

Acute infantile spinal muscular atrophy (HP:0007280)

Progressive spinal muscular atrophy (HP:0009067)

Segmental spinal muscular atrophy (HP:0009037)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006959	HP:0006959	Proximal spinal muscular atrophy	0	CL E G H

Genes (0) :

Diseases (0) :

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