ZFIN Human Disease: autosomal recessive cutis laxa type IC

OBO ID: DOID:0070139

Term Name:	autosomal recessive cutis laxa type IC		Search Ontology:
Synonyms:	ARCL1C autosomal recessive cutis laxa type 1C
Definition:	A autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13. https://www.ncbi.nlm.nih.gov/pubmed/19836010
References:	MESH:C567716 OMIM:613177 ORDO:221145 SNOMEDCT_US_2023_03_01:784349004 UMLS_CUI:C2750804
Ontology:	Human Disease ( DOID:0070139 )

Relationships

is a type of:	autosomal recessive cutis laxa type I autosomal recessive cutis laxa type I Show first 5 Terms

OTHER autosomal recessive cutis laxa type IC PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
LTBP4	ltbp4	Cutis laxa, autosomal recessive, type IC	613177

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None