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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:holoprosencephaly 12
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Accession:DOID:0081398 term browser browse the term
Definition:A holoprosencephaly that is characterized by abnormal separation of the embryonic forebrain resulting in dysmorphic facial features and often, but not always, impaired neurologic development and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21. (DO)
Synonyms:exact_synonym: HPE12;   holoprosencephaly 12, with or without pancreatic agenesis
 broad_synonym: CNOT1-RELATED DISORDER
 primary_id: OMIM:618500
 alt_id: DOID:9004991


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holoprosencephaly 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnot1 CCR4-NOT transcription complex, subunit 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 12 with or without pancreatic agenesis OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28525974 PMID:31006510 PMID:31006513 More... NCBI chr19:9,255,190...9,346,574
Ensembl chr19:9,255,194...9,346,574 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10886
      holoprosencephaly 215
        holoprosencephaly 12 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14398
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13415
        Congenital Abnormalities 7577
          Nervous System Malformations 2379
            Agenesis of Corpus Callosum 370
              holoprosencephaly 215
                holoprosencephaly 12 1
paths to the root