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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:hypertrichotic osteochondrodysplasia Cantu type
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Accession:DOID:0060569 term browser browse the term
Definition:An osteochondrodysplasia that is characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly. (DO)
Synonyms:exact_synonym: Cantu syndrome;   Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome;   Hypertrichotic osteochondrodysplasia
 primary_id: MESH:C535572;   RDO:0000771
 alt_id: OMIM:239850
 xref: GARD:8585
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
hypertrichotic osteochondrodysplasia Cantu type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by OMIM:239850
ClinVar Annotator: match by term: Hypertrichotic osteochondrodysplasia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypertrichotic osteochondrodysplasia Cantu type
OMIM
ClinVar
CTD
PMID:10398267, PMID:16835932, PMID:18414213, PMID:20474083, PMID:20890277, PMID:21344641, PMID:22608503, PMID:22610116, PMID:23307537, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25326635, PMID:25590979, PMID:25741868, PMID:26871653, PMID:26938784, PMID:27316244, PMID:28492532, PMID:28842488 NCBI chr 4:176,806,098...176,928,540
Ensembl chr 4:176,805,431...176,922,424
JBrowse link
G Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28842488 NCBI chr 4:176,783,287...176,789,143
Ensembl chr 4:176,782,498...176,789,304
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      bone development disease 1336
        osteochondrodysplasia 445
          hypertrichotic osteochondrodysplasia Cantu type 2
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            hair disease 262
              hypertrichosis 26
                hypertrichotic osteochondrodysplasia Cantu type 2
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.