Search Ontology:
Human Disease

autosomal recessive cutis laxa type IIC

Term ID
DOID:0070140
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 Pages
Alliance (1)
Genes Involved
Zebrafish Models
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