OBO ID: DOID:0070131
Term Name: autosomal dominant cutis laxa 3 Search Ontology:
Synonyms:
  • ADCL3
Definition: An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has_material_basis_in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. https://www.ncbi.nlm.nih.gov/pubmed/26320891
References:
Ontology: Human Disease   ( DOID:0070131 )
Relationships
is a type of:
OTHER autosomal dominant cutis laxa 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ALDH18A1 Cutis laxa, autosomal dominant 3 616603
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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