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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 9
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Accession:DOID:0110873 term browser browse the term
Definition:A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14. (DO)
Synonyms:exact_synonym: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES;   HPE9;   Pituitary Anomalies with Holoprosencephaly-Like Features
 narrow_synonym: CEREBELLAR CYST
 primary_id: MESH:C563659
 alt_id: OMIM:610829;   RDO:0012857
For additional species annotation, visit the Alliance of Genome Resources.


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holoprosencephaly 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by OMIM:610829
ClinVar Annotator: match by term: Holoprosencephaly 9
OMIM
ClinVar
PMID:1756909 PMID:10725236 PMID:14581620 PMID:15994174 PMID:16327884 PMID:17096318 PMID:17569090 PMID:19223936 PMID:20685056 PMID:20685856 PMID:21204792 PMID:21416594 PMID:22967285 PMID:22978696 PMID:23408573 PMID:24744436 PMID:25741868 PMID:26893459 PMID:28492532 PMID:29876959 PMID:30548673 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    physical disorder 3070
      polydactyly 120
        holoprosencephaly 9 1
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        central nervous system disease 10352
          brain disease 9711
            thalamic disease 226
              hypothalamic disease 226
                pituitary gland disease 171
                  hypopituitarism 46
                    holoprosencephaly 9 1
paths to the root