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GENE - TERM ANNOTATION REPORT

RGD ID: 1304586
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Abca12
Name: ATP binding cassette subfamily A member 12
Acc ID: DOID:0060713
Term: autosomal recessive congenital ichthyosis 4B
Definition: An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears, constricting bands around the extremities and frequently lethality during infancy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/harlequin-ichthyosis "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/21339420 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Abca12 ISOABCA12 (Homo sapiens)7240710OMIM  
Abca12 ISOABCA12 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Abca12 ISOABCA12 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4BPMID:10094194 PMID:12915478 PMID:15756637 PMID:16902423 PMID:17684380 PMID:19262603 PMID:19664001 PMID:20672373 PMID:21729033 PMID:25741868 PMID:25741909 PMID:26740202 PMID:28492532 PMID:28851938 PMID:29543227 PMID:29880184 PMID:30578701 PMID:30916489 PMID:31168818 PMID:31586585 PMID:32293521 PMID:34906502 PMID:35216886 PMID:36980989
Abca12 ISSAbca12 (Mus musculus)13592920MouseDOOMIM:242500 
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