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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: MIM:614226

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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 chrNW_004955412:26,654,980...26,664,989
Ensembl chrNW_004955412:26,655,208...26,664,888 		JBrowse link
G Ccdc15 coiled-coil domain containing 15 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004955412:26,014,842...26,089,556
Ensembl chrNW_004955412:26,005,090...26,089,615 		JBrowse link
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Holoprosencephaly 11 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20301702 PMID:21802063 More... NCBI chrNW_004955412:27,004,391...27,093,968
Ensembl chrNW_004955412:27,003,919...27,065,989 		JBrowse link
G Chek1 checkpoint kinase 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004955412:26,627,606...26,650,554 JBrowse link
G Ddx25 DEAD-box helicase 25 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004955412:26,952,655...26,973,758
Ensembl chrNW_004955412:26,952,239...26,972,100 		JBrowse link
G Ei24 EI24 autophagy associated transmembrane protein ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004955412:26,574,814...26,586,154
Ensembl chrNW_004955412:26,574,866...26,585,161 		JBrowse link
G Fam118b family with sequence similarity 118 member B ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004955412:27,239,420...27,287,097
Ensembl chrNW_004955412:27,238,517...27,287,097 		JBrowse link
G Fez1 fasciculation and elongation protein zeta 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004955412:26,477,995...26,530,686
Ensembl chrNW_004955412:26,477,301...26,531,354 		JBrowse link
G Foxred1 FAD dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004955412:27,293,467...27,300,522 JBrowse link
G Hepacam hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004955412:25,981,235...25,998,296
Ensembl chrNW_004955412:25,980,460...25,998,482 		JBrowse link
G Hyls1 HYLS1 centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004955412:26,937,460...26,949,571
Ensembl chrNW_004955412:26,937,654...26,951,636 		JBrowse link
G LOC102026412 olfactory receptor 6X1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004955412:24,492,889...24,493,833
Ensembl chrNW_004955412:24,492,889...24,493,827 		JBrowse link
G LOC102027959 olfactory receptor 6M1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004955412:24,524,602...24,525,549
Ensembl chrNW_004955412:24,524,602...24,525,549 		JBrowse link
G LOC102028842 olfactory receptor 8D4 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004955412:24,557,873...24,558,811
Ensembl chrNW_004955412:24,557,873...24,558,808 		JBrowse link
G LOC102029164 olfactory receptor 4D5 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004955412:24,570,586...24,582,450
Ensembl chrNW_004955412:24,581,506...24,582,450 		JBrowse link
G Msantd2 Myb/SANT DNA binding domain containing 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004955412:25,841,139...25,877,839
Ensembl chrNW_004955412:25,841,139...25,877,839 		JBrowse link
G Nrgn neurogranin ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004955412:25,809,512...25,818,237
Ensembl chrNW_004955412:25,809,512...25,818,237 		JBrowse link
G Panx3 pannexin 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004955412:25,676,286...25,684,841
Ensembl chrNW_004955412:25,676,286...25,684,841 		JBrowse link
G Pate1 prostate and testis expressed 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004955412:26,801,951...26,804,312
Ensembl chrNW_004955412:26,801,951...26,804,312 		JBrowse link
G Pate2 prostate and testis expressed 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004955412:26,842,719...26,844,208
Ensembl chrNW_004955412:26,842,682...26,844,315 		JBrowse link
G Pate4 prostate and testis expressed 4 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004955412:26,912,925...26,914,668 JBrowse link
G Pknox2 PBX/knotted 1 homeobox 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004955412:26,214,671...26,468,737
Ensembl chrNW_004955412:26,372,846...26,468,926 		JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004955412:26,941,837...26,951,524
Ensembl chrNW_004955412:26,942,082...26,945,624 		JBrowse link
G Robo3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004955412:25,937,624...25,953,458
Ensembl chrNW_004955412:25,937,624...25,953,189 		JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004955412:25,954,906...25,967,707
Ensembl chrNW_004955412:25,954,085...25,967,723 		JBrowse link
G Rpusd4 RNA pseudouridine synthase D4 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004955412:27,231,371...27,239,366
Ensembl chrNW_004955412:27,229,492...27,239,339 		JBrowse link
G Scn3b sodium voltage-gated channel beta subunit 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004955412:24,391,764...24,412,912
Ensembl chrNW_004955412:24,388,366...24,412,604 		JBrowse link
G Siae sialic acid acetylesterase ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004955412:25,704,024...25,741,646
Ensembl chrNW_004955412:25,703,591...25,792,252 		JBrowse link
G Slc37a2 solute carrier family 37 member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004955412:26,119,121...26,143,728
Ensembl chrNW_004955412:26,118,572...26,143,728 		JBrowse link
G Spa17 sperm autoantigenic protein 17 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004955412:25,741,369...25,753,681
Ensembl chrNW_004955412:25,741,228...25,753,903 		JBrowse link
G Srpra SRP receptor subunit alpha ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004955412:27,287,359...27,293,362
Ensembl chrNW_004955412:27,287,368...27,293,362 		JBrowse link
G Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004955412:26,593,142...26,624,143
Ensembl chrNW_004955412:26,595,666...26,623,621 		JBrowse link
G Tbrg1 transforming growth factor beta regulator 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004955412:25,686,105...25,713,363
Ensembl chrNW_004955412:25,685,761...25,701,055 		JBrowse link
G Tirap TIR domain containing adaptor protein ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004955412:27,303,548...27,315,031
Ensembl chrNW_004955412:27,312,489...27,315,031 		JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004955412:26,149,816...26,166,470
Ensembl chrNW_004955412:26,151,452...26,166,470 		JBrowse link
G Tmem225 transmembrane protein 225 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004955412:24,544,669...24,547,471
Ensembl chrNW_004955412:24,544,480...24,547,498 		JBrowse link
G Vsig2 V-set and immunoglobulin domain containing 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004955412:25,818,501...25,823,393
Ensembl chrNW_004955412:25,818,566...25,823,224 		JBrowse link
G Vwa5a von Willebrand factor A domain containing 5A ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004955412:24,850,301...24,874,498
Ensembl chrNW_004955412:24,850,302...24,874,679 		JBrowse link
G Znf202 zinc finger protein 202 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004955412:24,469,313...24,481,551
Ensembl chrNW_004955412:24,469,313...24,481,568 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14337
    syndrome 9848
      holoprosencephaly 197
        holoprosencephaly 11 39
Path 2
Term Annotations click to browse term
  disease 14337
    Developmental Disease 12614
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11878
        Congenital Abnormalities 7234
          Nervous System Malformations 2337
            Agenesis of Corpus Callosum 347
              holoprosencephaly 197
                holoprosencephaly 11 39
paths to the root