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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 11
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Accession:DOID:0110877 term browser browse the term
Definition:A holoprosencephaly that has_material_basis_in heterozygous mutation in the CDON gene on chromosome 11q24. (DO)
Synonyms:exact_synonym: CDON-RELATED CONDITION;   HPE11
 primary_id: OMIM:614226


show annotations for term's descendants           Sort by:
holoprosencephaly 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acrv1 acrosomal vesicle protein 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:36,404,394...36,409,971
Ensembl chr 8:36,404,394...36,424,959 		JBrowse link
G Ccdc15 coiled-coil domain containing 15 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:36,991,147...37,068,849
Ensembl chr 8:36,998,867...37,068,919 		JBrowse link
G Cdon cell adhesion associated, oncogene regulated ISO
ISS		 ClinVar Annotator: match by term: Holoprosencephaly 11
CTD Direct Evidence: marker/mechanism
OMIM:614226		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20301702 PMID:21802063 More... NCBI chr 8:33,775,123...33,861,635
Ensembl chr 8:33,806,183...33,859,033 		JBrowse link
G Chek1 checkpoint kinase 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:36,420,565...36,443,477
Ensembl chr 8:36,420,569...36,441,009 		JBrowse link
G Ddx25 DEAD-box helicase 25 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:33,894,224...33,910,377
Ensembl chr 8:33,894,232...33,921,764 		JBrowse link
G Ei24 EI24, autophagy associated transmembrane protein ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:36,494,289...36,510,653
Ensembl chr 8:36,494,289...36,510,571 		JBrowse link
G Esam endothelial cell adhesion molecule ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:37,238,228...37,249,217
Ensembl chr 8:37,238,287...37,249,215 		JBrowse link
G Fam118b family with sequence similarity 118, member B ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:33,566,681...33,617,310
Ensembl chr 8:33,566,669...33,617,270 		JBrowse link
G Fez1 fasciculation and elongation protein zeta 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:36,544,462...36,589,684
Ensembl chr 8:36,544,535...36,589,683 		JBrowse link
G Foxred1 FAD-dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:33,551,010...33,560,227
Ensembl chr 8:33,551,013...33,560,192 		JBrowse link
G Hepacam hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:37,087,864...37,106,759
Ensembl chr 8:37,087,857...37,105,920 		JBrowse link
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:33,912,692...33,921,760
Ensembl chr 8:33,912,692...33,921,760 		JBrowse link
G LOC103689958 olfactory receptor 49-like ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 1:65,911,907...65,913,255
Ensembl chr 1:65,912,105...65,913,079 		JBrowse link
G Msantd2 Myb/SANT DNA binding domain containing 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:37,200,890...37,234,691
Ensembl chr 8:37,200,260...37,234,476 		JBrowse link
G Nrgn neurogranin ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:37,255,462...37,263,659
Ensembl chr 8:37,256,930...37,257,516 		JBrowse link
G Olr1271 olfactory receptor 1271 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:39,127,409...39,131,889
Ensembl chr 8:39,127,352...39,131,900 		JBrowse link
G Or10g9 olfactory receptor family 10 subfamily G member 9 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:40,352,436...40,353,371
Ensembl chr 8:40,352,436...40,353,371 		JBrowse link
G Or10g9b olfactory receptor family 10 subfamily G member 9B ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:40,358,211...40,359,143
Ensembl chr 8:40,357,714...40,361,692 		JBrowse link
G Or10s1 olfactory receptor family 10 subfamily S member 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:40,377,018...40,378,068
Ensembl chr 8:40,377,103...40,378,068 		JBrowse link
G Or4d5 olfactory receptor family 4 subfamily D member 5 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:40,423,865...40,424,809
Ensembl chr 8:40,423,865...40,424,809 		JBrowse link
G Or6x1 olfactory receptor family 6 subfamily X member 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:40,538,157...40,539,095
Ensembl chr 8:40,533,033...40,541,586 		JBrowse link
G Or8a1b olfactory receptor family 8 subfamily A member 1B ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:37,434,903...37,435,832
Ensembl chr 8:37,434,551...37,439,746 		JBrowse link
G Or8b12 olfactory receptor family 8 subfamily B member 12 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:37,479,706...37,480,638
Ensembl chr 8:37,478,794...37,481,315 		JBrowse link
G Or8b3 olfactory receptor family 8 subfamily B member 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:38,521,915...38,522,856
Ensembl chr 8:38,520,758...38,522,936 		JBrowse link
G Or8b4 olfactory receptor family 8 subfamily B member 4 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:37,720,158...37,721,087 JBrowse link
G Or8b8 olfactory receptor family 8 subfamily B member 8 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:37,693,578...37,694,510
Ensembl chr 8:37,693,499...37,694,547 		JBrowse link
G Or8d4 olfactory receptor family 8 subfamily D member 4 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:40,469,997...40,470,932
Ensembl chr 8:40,469,997...40,470,932 		JBrowse link
G Or8g17d olfactory receptor family 8 subfamily G member 17D ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:39,180,564...39,181,499
Ensembl chr 8:39,180,079...39,184,720 		JBrowse link
G Or8g30 olfactory receptor family 8 subfamily G member 30 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:39,613,311...39,614,246
Ensembl chr 8:39,613,126...39,618,924 		JBrowse link
G Panx3 pannexin 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:37,366,758...37,377,640
Ensembl chr 8:37,366,862...37,377,640 		JBrowse link
G Pate1 prostate and testis expressed 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:34,048,410...34,050,867
Ensembl chr 8:34,048,617...34,050,848 		JBrowse link
G Pate2 prostate and testis expressed 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:34,019,123...34,026,850
Ensembl chr 8:34,024,114...34,050,517 		JBrowse link
G Pate3 prostate and testis expressed 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:34,014,164...34,016,175
Ensembl chr 8:34,014,164...34,016,175 		JBrowse link
G Pate4 prostate and testis expressed 4 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:33,988,812...33,991,552
Ensembl chr 8:33,988,812...33,991,552 		JBrowse link
G Pknox2 PBX/knotted 1 homeobox 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:36,600,633...36,863,131
Ensembl chr 8:36,600,636...36,790,940 		JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:33,910,461...33,918,716
Ensembl chr 8:33,911,357...33,918,714 		JBrowse link
G Robo3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315 		JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:37,119,953...37,133,887
Ensembl chr 8:37,119,988...37,132,519 		JBrowse link
G Rpusd4 RNA pseudouridine synthase D4 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:33,617,384...33,626,873
Ensembl chr 8:33,617,379...33,626,873 		JBrowse link
G Scn3b sodium voltage-gated channel beta subunit 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:40,630,372...40,652,869
Ensembl chr 8:40,630,455...40,652,868 		JBrowse link
G Siae sialic acid acetylesterase ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:37,318,724...37,354,004
Ensembl chr 8:37,318,747...37,353,996 		JBrowse link
G Slc37a2 solute carrier family 37 member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:36,945,787...36,971,748
Ensembl chr 8:36,946,930...36,971,482 		JBrowse link
G Spa17 sperm autoantigenic protein 17 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:37,307,432...37,318,519
Ensembl chr 8:37,307,557...37,318,639 		JBrowse link
G Srpra SRP receptor subunit alpha ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:33,560,365...33,566,458
Ensembl chr 8:33,560,348...33,566,470 		JBrowse link
G Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:36,443,623...36,483,111
Ensembl chr 8:36,446,788...36,483,293 		JBrowse link
G Tbrg1 transforming growth factor beta regulator 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:37,355,274...37,362,933
Ensembl chr 8:37,354,658...37,362,930 		JBrowse link
G Tirap TIR domain containing adaptor protein ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:33,531,724...33,548,508
Ensembl chr 8:33,531,725...33,547,432 		JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927 		JBrowse link
G Tmem225 transmembrane protein 225 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:40,497,483...40,500,041
Ensembl chr 8:40,497,483...40,500,041 		JBrowse link
G Vsig2 V-set and immunoglobulin domain containing 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:37,250,107...37,255,150
Ensembl chr 8:37,250,107...37,255,150 		JBrowse link
G Vwa5a von Willebrand factor A domain containing 5A ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:38,815,176...38,848,674
Ensembl chr 8:38,815,210...38,839,112 		JBrowse link
G Zfp202 zinc finger protein 202 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:40,542,665...40,567,397
Ensembl chr 8:40,542,701...40,563,118 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    syndrome 10900
      holoprosencephaly 214
        holoprosencephaly 11 52
Path 2
Term Annotations click to browse term
  disease 18970
    Developmental Disease 14384
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13389
        Congenital Abnormalities 7591
          Nervous System Malformations 2387
            Agenesis of Corpus Callosum 369
              holoprosencephaly 214
                holoprosencephaly 11 52
paths to the root