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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
autosomal recessive cutis laxa type IIA  
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. (DO)
autosomal recessive cutis laxa type IIB  
autosomal recessive cutis laxa type IIC  
autosomal recessive cutis laxa type IID  
Autosomal Recessive Cutis Laxa Type IIE  

Synonyms
Exact Synonyms: ARCL2 ;   ARCL2A ;   CUTIS LAXA WITH CONGENITAL DISORDER OF GLYCOSYLATION ;   CUTIS LAXA WITH OSTEODYSTROPHY ;   Cutis Laxa With Bone Dystrophy ;   Cutis Laxa With Growth And Developmental Delay ;   Cutis Laxa With Joint Laxity And Retarded Development ;   cutis laxa with or without congenital disorder of glycosylation ;   cutis laxa, Debre type
Primary IDs: MESH:C562632
Alternate IDs: MIM:219200
Definition Sources: PMID:18157129 "DO" "DO", PMID:19401719 "DO" "DO"

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