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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 1
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Accession:DOID:0110881 term browser browse the term
Definition:A holoprosencephaly that has_material_basis_in variation in the chromosome region 21q22.3. (DO)
Synonyms:exact_synonym: Cyclopia;   HPE1
 primary_id: MESH:C562573
 alt_id: OMIM:236100;   RDO:0012227;   RDO:9003885
For additional species annotation, visit the Alliance of Genome Resources.


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holoprosencephaly 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:25741868 NCBI chr 8:36,625,757...36,712,091
Ensembl chr 8:36,625,733...36,710,949
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:18596921, PMID:21045958 NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
JBrowse link
G Gas1 growth arrest-specific 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:20583177, PMID:21842183 NCBI chr17:4,846,116...4,849,350
Ensembl chr17:4,846,789...4,847,940
JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:25741868 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
JBrowse link
G Zic2 Zic family member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:22859937 NCBI chr15:108,908,366...108,913,812
Ensembl chr15:108,908,607...108,912,737
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      holoprosencephaly 34
        holoprosencephaly 1 5
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        Congenital Abnormalities 4759
          Nervous System Malformations 1084
            Agenesis of Corpus Callosum 142
              holoprosencephaly 34
                holoprosencephaly 1 5
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.