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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Sternocleidomastoid amyotrophy (HP:0012036)help
Term ID: 12036
Name: Sternocleidomastoid amyotrophy
Synonym:
Definition: Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head.
Comments:
Reference: HP:0012036
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
..expandNonprogressive muscular atrophy (HP:0008964) 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
..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:0012036HP:0012036Sternocleidomastoid amyotrophy0CNBP CL E G H755513164OMIM:602668Dystrophia myotonica 21
HP:0012036HP:0012036Sternocleidomastoid amyotrophy0NEB CL E G H47037720ORPHA:399103Distal nebulin myopathyHP:0040282 - Frequent745
HP:0012036HP:0012036Sternocleidomastoid amyotrophy0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0012036HP:0012036Sternocleidomastoid amyotrophy0RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegiaHP:0040283 - Occasional1200
HP:0012036HP:0012036Sternocleidomastoid amyotrophy0TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitusHP:0040283 - Occasional


Genes (4) :CNBP NEB RYR1 TRNE

Diseases (5) :OMIM:602668 ORPHA:399103 OMIM:256030 ORPHA:98905 ORPHA:2596
 

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