Muscular dystrophy, congenital, 1b

Preferred Label : Muscular dystrophy, congenital, 1b;

Symbol : MDC1B;

CISMeF acronym : MDC1B;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal recessive;

Laboratory abnormalities : Elevated serum creatine kinase; Deficiency of laminin alpha-2 chain of merosin (LAMA2, 156225) in muscle;

Prefixed ID : %604801;

Details

Origin ID

604801;

UMLS CUI

C1858118;

Currated CISMeF NLP mapping
- Congenital muscular dystrophy type 1B [ICD-11 More detail]
- Congenital muscular dystrophy type 1B [ORDO Disease]
- Congenital muscular dystrophy type 1B (disorder) [SNOMED CT concept]
- congenital muscular dystrophy 1B [DO Concept]
- muscular dystrophy, congenital, 1B [MeSH concept]
- muscular dystrophy, congenital, 1B [MeSH Supplementary Concept]
DO Cross reference
- congenital muscular dystrophy 1B [DO Concept]
HPO term(s)
- Achilles tendon contracture [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital muscular dystrophy [HPO term]
- Delayed early motor milestones [HPO term]
- Diaphragmatic weakness [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Facial palsy [HPO term]
- Generalized hypotonia [HPO term]
- Generalized muscle hypertrophy [HPO term]
- Gowers sign [HPO term]
- Motor delay [HPO term]
- Muscular dystrophy, congenital [HPO term]
- Pectoralis amyotrophy [HPO term]
- Respiratory failure [HPO term]
- Shoulder girdle muscle weakness [HPO term]
- Spinal rigidity [HPO term]
- Sternocleidomastoid amyotrophy [HPO term]
ORDO concept(s)
- Congenital muscular dystrophy type 1B [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital muscular dystrophy type 1B [ORDO Disease]
- Congenital muscular dystrophy type 1B (disorder) [SNOMED CT concept]
- congenital muscular dystrophy 1B [DO Concept]
- muscular dystrophy, congenital, 1B [MeSH Supplementary Concept]
- muscular dystrophy, congenital, 1B [MeSH concept]

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