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GENE - TERM ANNOTATION REPORT

RGD ID: 1560891
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Zc3h12b
Name: zinc finger CCCH-type containing 12B
Acc ID: DOID:0060886
Term: osteopathia striata with cranial sclerosis
Definition: An osteosclerosis characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss in females and fetal or neonatal lethality in males that has_material_basis_in mutation in the AMER1 gene on chromosome Xq11. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/19079258 "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)
Zc3h12b ISOZC3H12B (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteopathia striata with cranial sclerosisPMID:19079258 PMID:20209645 PMID:9383023
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