FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term autosomal recessive cutis laxa type IID ID (Ontology) DOID:0070129 (Human Disease)
Definition An autosomal recessive cutis laxa type II classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13.
Also Known As "ARCL2D"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes
 autosomal recessive cutis laxa type IID       3
 for disease ribbon | autosomal recessive cutis laxa type IID       3
 model of | autosomal recessive cutis laxa type IID       3
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal recessive disease__
cutis laxa___________________|
                             autosomal recessive cutis laxa type II classic type
                              |__autosomal recessive cutis laxa type IID  3 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal recessive cutis laxa type II classic type
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "ARCL2D" EXACT OMO:0003012
Secondary IDs
hide External Crossreferences & Linkouts
ICD10CM:Q82.8
MIM:617403