Muscular dystrophy, congenital, merosin-positive

Preferred Label : Muscular dystrophy, congenital, merosin-positive;

Obsolete resource : true;

Moved to : 254300;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal recessive;

Laboratory abnormalities : Normal or mildly increased serum creatine kinase;

Prefixed ID : 609456;

Details

Origin ID

609456;

UMLS CUI

C1836133;

Currated CISMeF NLP mapping
- congenital muscular dystrophy merosin-positive [DO Concept]
- muscular dystrophy, congenital, Merosin-Positive [MeSH concept]
- muscular dystrophy, congenital, Merosin-Positive [MeSH Supplementary Concept]
DO Cross reference
- congenital muscular dystrophy merosin-positive [DO Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital muscular dystrophy [HPO term]
- Congenital onset [HPO term]
- Decreased fetal movement [HPO term]
- Delayed ability to walk [HPO term]
- Facial muscle weakness, mild-to-moderate [HPO term]
- Facial palsy [HPO term]
- Flexion contracture [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Joint laxity [HPO term]
- Joint laxity, mild [HPO term]
- Mildly elevated creatine kinase [HPO term]
- Muscle biopsy shows dystrophic changes [HPO term]
- Muscular dystrophy, congenital [HPO term]
- Myopathy [HPO term]
- Neck muscle weakness [HPO term]
- Neonatal hypotonia [HPO term]
- Proximal muscle weakness [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Scoliosis [HPO term]
- Shoulder girdle muscle weakness [HPO term]
- Variable expressivity [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- congenital muscular dystrophy merosin-positive [DO Concept]
- muscular dystrophy, congenital, Merosin-Positive [MeSH Supplementary Concept]
- muscular dystrophy, congenital, Merosin-Positive [MeSH concept]

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