Myopathy, distal, 3

Preferred Label : Myopathy, distal, 3;

Symbol : MPD3;

CISMeF acronym : MPD3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Laboratory abnormalities : Normal or mildly increased serum creatine kinase;

Prefixed ID : #610099;

Détails

Origin ID

610099;

UMLS CUI

C1864706;

Currated CISMeF NLP mapping
- Finnish upper limb onset distal myopathy (disorder) [SNOMED CT concept]
- Finnish upper limb-onset distal myopathy [ORDO Disease]
- distal muscular dystrophy 3 [DO Concept]
- myopathy, distal 3 [MeSH Supplementary Concept]
- myopathy, distal 3 [MeSH concept]
DO Cross reference
- distal muscular dystrophy 3 [DO Concept]
Genes related to phenotype
- Heterogeneous nuclear ribonucleoprotein a1 [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Autosomal dominant inheritance [HPO term]
- Clumsiness [HPO term]
- Contractures of the hands, mild [HPO term]
- Distal amyotrophy [HPO term]
- Distal muscle weakness [HPO term]
- EMG shows myopathic changes [HPO term]
- EMG: myopathic abnormalities [HPO term]
- Joint contracture of the hand [HPO term]
- Late-onset proximal muscle weakness [HPO term]
- Mildly elevated creatine kinase [HPO term]
- Muscle biopsy shows dystrophic changes [HPO term]
- Muscular dystrophy [HPO term]
- Rimmed vacuoles [HPO term]
- Slowly progressive [HPO term]
- Split hand [HPO term]
- Steppage gait [HPO term]
ORDO concept(s)
- Finnish upper limb-onset distal myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Finnish upper limb onset distal myopathy (disorder) [SNOMED CT concept]
- Finnish upper limb-onset distal myopathy [ORDO Disease]
- myopathy, distal 3 [MeSH Supplementary Concept]
- myopathy, distal 3 [MeSH concept]

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