ZFIN Human Disease: autosomal recessive cutis laxa type I

OBO ID: DOID:0070144

Term Name:	autosomal recessive cutis laxa type I		Search Ontology:
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 autosomal recessive cutis laxa type I PAGES

Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None