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RGD uses the Human Disease Ontology (DO, 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.

show annotations for term's descendants           Sort by:
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
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:19603532, PMID:19920144, PMID:20157829, PMID:20425842, PMID:21416594, PMID:22897141, PMID:25741868, PMID:26467025, PMID:28127823, PMID:28492532, PMID:29205322, PMID:30311386 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 16045
    syndrome 6991
      holoprosencephaly 34
        holoprosencephaly 3 2
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        Congenital Abnormalities 4759
          Nervous System Malformations 1084
            Agenesis of Corpus Callosum 142
              holoprosencephaly 34
                holoprosencephaly 3 2
paths to the root


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