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Human Disease
autosomal recessive cutis laxa type IIA
- Term ID
- DOID:0070134
- Synonyms
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- ARCL2A
- Definition
- An autosomal recessive cutis laxa type II classic type that has_material_basis_in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24. (2)
- References
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- ICD10CM:Q82.8
- MIM:219200
- Ontology
- Human Disease ( DOID:0070134 )
- is a type of
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