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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 3
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Accession:DOID:0110875 term browser browse the term
Definition:A holoprosencephaly that has_material_basis_in heterozygous mutation in the SHH gene on chromosome 7q36. (DO)
Synonyms:exact_synonym: HLP3;   HPE3
 primary_id: MESH:C564181
 alt_id: OMIM:142945;   RDO:0013225
For additional species annotation, visit the Alliance of Genome Resources.



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holoprosencephaly 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb development membrane protein 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:28492532 NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368
JBrowse link
G Shh sonic hedgehog signaling molecule ISO ClinVar Annotator: match by term: Holoprosencephaly 3 OMIM
ClinVar
PMID:8896572 PMID:9302262 PMID:9600232 PMID:10479723 PMID:10556296 More... NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      holoprosencephaly 129
        holoprosencephaly 3 2
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        Congenital Abnormalities 6484
          Nervous System Malformations 2028
            Agenesis of Corpus Callosum 268
              holoprosencephaly 129
                holoprosencephaly 3 2
paths to the root