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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 4:2,116,094...2,274,111
Ensembl chr 4:2,116,094...2,201,749
JBrowse link
G Shh sonic hedgehog signaling molecule ISO ClinVar Annotator: match by term: Holoprosencephaly 3
ClinVar Annotator: match by OMIM:142945
OMIM
ClinVar
PMID:8896572 PMID:9302262 PMID:9600232 PMID:10479723 PMID:10556296 PMID:11471164 PMID:11857543 PMID:11919111 PMID:12567406 PMID:12709790 PMID:15292211 PMID:16282375 PMID:18655123 PMID:19478089 PMID:19533790 PMID:19561609 PMID:19603532 PMID:19920144 PMID:20157829 PMID:20425842 PMID:21416594 PMID:22897141 PMID:25741868 PMID:26467025 PMID:28127823 PMID:28492532 PMID:29205322 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      holoprosencephaly 34
        holoprosencephaly 3 2
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        Congenital Abnormalities 4761
          Nervous System Malformations 1050
            Agenesis of Corpus Callosum 127
              holoprosencephaly 34
                holoprosencephaly 3 2
paths to the root