Human Phenotype Ontology 
Grandparent Node:
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Abnormality of muscle size (HP:0030236)help
Grandparent Node:
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obsolete Abnormality of skeletal muscles (HP:0040290)help
Parent Node:
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Skeletal muscle atrophy (HP:0003202)help
..Starting node
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Nonprogressive muscular atrophy (HP:0008964)help
Term ID: 8964
Name: Nonprogressive muscular atrophy
Synonym:
Definition: Muscular atrophy that does not display a progression in severity with time.
Comments:
Reference: HP:0008964
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDistal amyotrophy (HP:0003693) help
..expandGeneralized amyotrophy (HP:0003700) help
..expandLimb-girdle muscle atrophy (HP:0003797) help
..expandLower limb amyotrophy (HP:0007210) help
..expandPectoralis amyotrophy (HP:0012037) help
..expandPeroneal muscle atrophy (HP:0009049) help
..expandProximal amyotrophy (HP:0007126) help
..expandScapuloperoneal amyotrophy (HP:0003697) help
..expandSpinal muscular atrophy (HP:0007269) help
..expandSternocleidomastoid amyotrophy (HP:0012036) help
..expandUpper limb amyotrophy (HP:0009129) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008964HP:0008964Nonprogressive muscular atrophy0TRPV4 CL E G H5934118083ORPHA:1216Autosomal dominant congenital benign spinal muscular atrophyHP:0040281 - Very frequent214
HP:0008964HP:0008964Nonprogressive muscular atrophy0TRPV4 CL E G H5934118083OMIM:600175Spinal muscular atrophy, distal, congenital nonprogressive.214


Genes (1) :TRPV4

Diseases (2) :ORPHA:1216 OMIM:600175
 

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