Human Phenotype Ontology 
Grandparent Node:
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Abnormal skeletal muscle morphology (HP:0011805)help
Parent Node:
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Muscular dystrophy (HP:0003560)help
..Starting node
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Scapulohumeral muscular dystrophy (HP:0008970)help
Term ID: 8970
Name: Scapulohumeral muscular dystrophy
Synonym:
Definition:
Comments:
Reference: HP:0008970
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCongenital muscular dystrophy (HP:0003741) help
..expandLate-onset muscular dystrophy (HP:0007081) help
..expandLimb-girdle muscular dystrophy (HP:0006785) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0008970HP:0008970Scapulohumeral muscular dystrophy0FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM11233954601278
HP:0008970HP:0008970Scapulohumeral muscular dystrophy0FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM11213954601278
HP:0008970HP:0008970Scapulohumeral muscular dystrophy0SMCHD1 CL E G H23347158901Facioscapulohumeral muscular dystrophy 2158901C1834671OMIM185929090614982
HP:0008970HP:0008970Scapulohumeral muscular dystrophy0SMCHD1 CL E G H23347158901Facioscapulohumeral muscular dystrophy 2158901C1834671OMIM172429090614982
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (2) :FRG1 SMCHD1

Diseases (2) :158900 158901
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.