ZFIN Human Disease: autosomal recessive cutis laxa type IIIA

OBO ID: DOID:0070132

Term Name:	autosomal recessive cutis laxa type IIIA		Search Ontology:
Synonyms:	ARCL3A De Barsy syndrome A
Definition:	A autosomal recessive cutis laxa type III that has_material_basis_in homozygous mutation in the ALDH18A1 gene on chromosome 10q24. https://www.ncbi.nlm.nih.gov/pubmed/11092761
References:	ICD10CM:Q82.8 OMIM:219150 ORDO:35664
Ontology:	Human Disease ( DOID:0070132 )

Relationships

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

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ALDH18A1	aldh18a1	Cutis laxa, autosomal recessive, type IIIA	219150

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None