autosomal recessive cutis laxa type I

Term ID

DOID:0070144

Synonyms

autosomal recessive cutis laxa type 1

Definition

A cutis laxa characterized by wrinkled, redundant and sagging inelastic skin and severe systemic manifestations particulary in the lungs, vasculature, and gastrointestinal and genitourinary systems. https://www.ncbi.nlm.nih.gov/pubmed/19401719

References

GARD:8480
MESH:C562628
ORDO:90439
SNOMEDCT_US_2023_03_01:254222002
UMLS_CUI:C0268351
UMLS_CUI:C0432336

Ontology

Human Disease ( DOID:0070144 )

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 IA autosomal recessive cutis laxa type IB autosomal recessive cutis laxa type IC

autosomal recessive cutis laxa type IA autosomal recessive cutis laxa type IB autosomal recessive cutis laxa type IC Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations