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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


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 IAGP
EXP
ISS		 ClinVar Annotator: match by term: Hypertrichotic osteochondrodysplasia Cantu type
CTD Direct Evidence: marker/mechanism
OMIM:239850		 ClinVar
OMIM
CTD
MouseDO		 PMID:9536098 PMID:10398267 PMID:15034580 PMID:16199547 PMID:16835932 More... NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		JBrowse link
G KCNJ8 potassium inwardly rectifying channel subfamily J member 8 EXP
ISS
IAGP		 CTD Direct Evidence: marker/mechanism
OMIM:239850
ClinVar Annotator: match by term: Hypertrichotic osteochondrodysplasia Cantu type
ClinVar Annotator: match by term: Cantu syndrome		 CTD
MouseDO
ClinVar		 PMID:24176758 PMID:24700710 PMID:25741868 PMID:28492532 PMID:28842488 More... NCBI chr12:21,764,955...21,774,706
Ensembl chr12:21,764,955...21,775,600 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      bone development disease 3275
        osteochondrodysplasia 1231
          hypertrichotic osteochondrodysplasia Cantu type 2
Path 2
Term Annotations click to browse term
  disease 41189
    Pathological Conditions, Signs and Symptoms 21466
      Signs and Symptoms 16320
        Neurologic Manifestations 15387
          sensory system disease 9730
            skin disease 4874
              hair disease 387
                hypertrichosis 45
                  hypertrichotic osteochondrodysplasia Cantu type 2
paths to the root