You are using an outdated browser. Please upgrade your browser to improve your experience.
autosomal recessive cutis laxa type 2D
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description An autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has material basis in homozygous mutation in the ATP6V1A gene on chromosome 3q13.
Uniprot Description A form of cutis laxa, a disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, and a general connective tissue weakness. Most ARCL2D patients exhibit severe hypotonia as well as cardiovascular and neurologic involvement.
Disease Ontology Description An autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13.
Mondo Term and Equivalent IDs
MONDO:0027451: autosomal recessive cutis laxa type 2D
Download Data for autosomal recessive cutis laxa type 2D
data still loading...
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0070129
OMIM:617403
MONDO:0027451
High level summary of knowledge for a disease, including descriptions and datasource references.