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 4
Accession: DOID:0110880
browse the term
Definition: A holoprosencephaly that has_material_basis_in heterozygous mutation in the TGIF gene on chromosome 18p11. (DO)
Synonyms: exact_synonym: HPE4
primary_id: MESH:C564180
alt_id: OMIM:142946
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Dlgap1
DLG associated protein 1
ISO
ClinVar Annotator: match by term: Holoprosencephaly 4
ClinVar
PMID:16199538 PMID:16962354 PMID:17001671 PMID:19431187 PMID:22125506 PMID:28492532 More...
NCBI chr 9:109,857,500...110,726,817
Ensembl chr 9:110,167,448...110,726,817
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Emilin2
elastin microfibril interfacer 2
ISO
ClinVar Annotator: match by term: Holoprosencephaly 4
ClinVar
PMID:16199538 PMID:16962354 PMID:17001671 PMID:19431187 PMID:22125506 PMID:28492532 More...
NCBI chr 9:111,160,708...111,220,463
Ensembl chr 9:111,160,712...111,220,352
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Lpin2
lipin 2
ISO
ClinVar Annotator: match by term: Holoprosencephaly 4
ClinVar
PMID:16199538 PMID:16962354 PMID:17001671 PMID:19431187 PMID:22125506 PMID:28492532 More...
NCBI chr 9:111,083,378...111,158,193
Ensembl chr 9:111,083,745...111,158,193
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Myl12a
myosin light chain 12A
ISO
ClinVar Annotator: match by term: Holoprosencephaly 4
ClinVar
PMID:16199538 PMID:16962354 PMID:17001671 PMID:19431187 PMID:22125506 PMID:28492532 More...
NCBI chr 9:110,891,970...110,899,655
Ensembl chr 9:110,873,959...110,916,580
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Myl12b
myosin light chain 12B
ISO
ClinVar Annotator: match by term: Holoprosencephaly 4
ClinVar
PMID:16199538 PMID:16962354 PMID:17001671 PMID:19431187 PMID:22125506 PMID:28492532 More...
NCBI chr 9:110,873,855...110,888,187
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Myom1
myomesin 1
ISO
ClinVar Annotator: match by term: Holoprosencephaly 4
ClinVar
PMID:16199538 PMID:16962354 PMID:17001671 PMID:19431187 PMID:22125506 PMID:28492532 More...
NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344
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Tgif1
TGFB-induced factor homeobox 1
ISO
ClinVar Annotator: match by term: Holoprosencephaly 4 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:10835638 PMID:11810641 PMID:12522553 PMID:16199538 PMID:16962354 PMID:17001671 PMID:19431187 PMID:21940735 PMID:22125506 PMID:22859937 PMID:24123366 PMID:25741868 PMID:28492532 PMID:30157302 More...
NCBI chr 9:110,748,094...110,757,714
Ensembl chr 9:110,720,921...110,757,802
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