autosomal recessive cutis laxa type II classic type

Term ID

DOID:0070141

Synonyms

ARCL2, classic type
ARCL2, Debre type

Definition

A cutis laxa characterized by generalized skin wrinkling, sparse subcutaneous fat, dysmorphic progeroid facial features and severe hypotonia. https://www.ncbi.nlm.nih.gov/pubmed/28065471

References

ICD10CM:Q82.8
ORDO:357074

Ontology

Human Disease ( DOID:0070141 )

Relationships

is a type of: autosomal recessive disease cutis laxa

autosomal recessive disease cutis laxa Show first 5 Terms
has subtype: autosomal recessive cutis laxa type IIA autosomal recessive cutis laxa type IIC autosomal recessive cutis laxa type IID

autosomal recessive cutis laxa type IIA autosomal recessive cutis laxa type IIC autosomal recessive cutis laxa type IID Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models