OBO ID: DOID:0070140
Term Name: autosomal recessive cutis laxa type IIC Search Ontology:
Synonyms:
Definition: An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11.https://www.ncbi.nlm.nih.gov/pubmed/28065471
References:
Ontology: Human Disease   (DOID:0070140)
Relationships
is a type of:
OTHER autosomal recessive cutis laxa type IIC PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ATP6V1E1 Cutis laxa, autosomal recessive, type IIC 617402
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None