JSON

autosomal recessive cutis laxa type 2

^ http://purl.obolibrary.org/obo/MONDO_0019573

A spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debre) type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS). [ Orphanet:90350 https://orcid.org/0000-0001-5208-3432 ]

Term info

database cross reference
  • Orphanet:90350 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

abbreviation
ARCL2 [ Orphanet:90350 ]

definition

A spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debre) type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS).

exactMatch

http://purl.obolibrary.org/obo/Orphanet_90350

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019704

has exact synonym

ARCL2, cutis laxa with joint laxity and developmental delay

id

MONDO:0019573