Amyoplasia

Symptom Information:

Symptom ID: HPO:0003634
Synonyms:
Congenital absence of muscles [HPO:0003634]
Generalized amyoplasia [OMIM:Generalized amyoplasia]
Quality:
Cross references:
OMIM: "Generalized amyoplasia" [OMIM:Generalized amyoplasia]
Is a (Direct Parents):
HPO         Aplasia of the musculature
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the musculature(HPO:0003011)
          Abnormality of muscle morphology(HPO:0011805)
             Aplasia/Hypoplasia involving the skeletal musculature(HPO:0001460)
                Aplasia of the musculature(HPO:0100854)
                   Amyoplasia(HPO:0003634)
MedDRA:
Database Frequency: 3 / 7739
Resource:

All diseases associated with this symptom:

Lethal multiple pterygium syndrome (Orphanet:33108)
SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
X-linked lethal multiple pterygium syndrome (Orphanet:79447)