Search Ontology:
Human Disease
congenital merosin-deficient muscular dystrophy 1A
- Term ID
- DOID:0110636
- Synonyms
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- congenital muscular dystrophy due to laminin alpha2 deficiency
- MDC1A
- Merosin-negative congenital muscular dystrophy
- Definition
- A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22. (2)
- References
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- MESH:C537384
- MIM:607855
- NCI:C118783
- ORDO:258
- SNOMEDCT_US_2023_03_01:787037000
- UMLS_CUI:C1263858
- Ontology
- Human Disease ( DOID:0110636 )
- is a type of
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