ZFIN Human Disease: autosomal recessive cutis laxa type IIIB

OBO ID: DOID:0070138

Term Name:	autosomal recessive cutis laxa type IIIB		Search Ontology:
Synonyms:	ARCL3B De Barsy syndrome B
Definition:	An autosomal recessive cutis laxa type III that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25. https://www.ncbi.nlm.nih.gov/pubmed/19648921
References:	ICD10CM:Q82.8 OMIM:614438
Ontology:	Human Disease ( DOID:0070138 )

Relationships

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

OTHER autosomal recessive cutis laxa type IIIB PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PYCR1	pycr1a pycr1b	Cutis laxa, autosomal recessive, type IIIB	614438

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None