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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 5
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Accession:DOID:0110878 term browser browse the term
Definition:A holoprosencephaly that has_material_basis_in heterozygous mutation in the ZIC2 gene on chromosome 13q32. (DO)
Synonyms:exact_synonym: HPE5
 primary_id: MESH:C566464
 alt_id: OMIM:609637;   RDO:0014808
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
holoprosencephaly 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clybl citramalyl-CoA lyase ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:19955556, PMID:28492532 NCBI chr15:108,608,203...108,838,222
Ensembl chr15:108,608,204...108,838,235
JBrowse link
G Tm9sf2 transmembrane 9 superfamily member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:19955556, PMID:28492532 NCBI chr15:108,526,341...108,579,268
Ensembl chr15:108,526,014...108,579,256
JBrowse link
G Ubac2 UBA domain containing 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:19955556, PMID:28492532 NCBI chr15:108,286,407...108,433,531
Ensembl chr15:108,286,453...108,433,529
JBrowse link
G Zic2 Zic family member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 5
ClinVar Annotator: match by OMIM:609637
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9771712, PMID:11285244, PMID:11479728, PMID:15590697, PMID:19177455, PMID:19955556, PMID:21638761, PMID:21990207, PMID:22847929, PMID:25741868, PMID:28492532 NCBI chr15:108,908,366...108,913,812
Ensembl chr15:108,908,607...108,912,737
JBrowse link
G Zic5 Zic family member 5 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:19955556, PMID:28492532 NCBI chr15:108,891,992...108,907,601
Ensembl chr15:108,891,992...108,898,703
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      holoprosencephaly 34
        holoprosencephaly 5 5
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 5 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.