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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:9536098 PMID:10398267 PMID:16835932 PMID:17576681 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 16909
    Developmental Disease 10557
      bone development disease 1326
        osteochondrodysplasia 447
          hypertrichotic osteochondrodysplasia Cantu type 2
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          skin disease 2741
            hair disease 242
              hypertrichosis 26
                hypertrichotic osteochondrodysplasia Cantu type 2
paths to the root