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GENE - TERM ANNOTATION REPORT

RGD ID: 18936202
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Ankh
Name: ANKH inorganic pyrophosphate transport regulator
Acc ID: DOID:0080033
Term: craniometaphyseal dysplasia
Definition: An osteosclerosis that is characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. (DO)
Definition Source(s): http://ghr.nlm.nih.gov/condition/craniometaphyseal-dysplasia "DO" "DO", http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Craniometaphyseal%20Dysplasia "DO" "DO", https://medlineplus.gov/genetics/condition/craniometaphyseal-dysplasia/ "DO" "DO", https://www.ncbi.nlm.nih.gov/books/NBK154653/ "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)
Ankh ISOAnk (Mus musculus)9068941MouseDOOMIM:122860 | OMIM:123000 | OMIM:218300 | OMIM:218400 | OMIM:614099 | OMIM:614378 
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