OBO ID: DOID:0070140 |
Term Name: | autosomal recessive cutis laxa type IIC | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0070140 ) |
OTHER autosomal recessive cutis laxa type IIC PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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