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hypertrichotic osteochondrodysplasia Cantu type - Ontology Report - Rat Genome Database

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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: MIM:239850
 xref: GARD:8585

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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 term: Hypertrichotic osteochondrodysplasia Cantu type OMIM
ClinVar		 PMID:9536098 PMID:10398267 PMID:15034580 PMID:16199547 PMID:16835932 More... NCBI chrNW_004936548:4,983,461...5,110,693
Ensembl chrNW_004936548:4,987,847...5,108,104 		JBrowse link
G Kcnj8 potassium inwardly rectifying channel subfamily J member 8 ISO ClinVar Annotator: match by term: Cantu syndrome | ClinVar Annotator: match by term: Hypertrichotic osteochondrodysplasia Cantu type ClinVar PMID:24176758 PMID:24700710 PMID:25741868 PMID:28492532 PMID:32215968 NCBI chrNW_004936548:5,125,583...5,132,490
Ensembl chrNW_004936548:5,125,555...5,133,078 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14641
    Developmental Disease 12849
      bone development disease 2227
        osteochondrodysplasia 812
          hypertrichotic osteochondrodysplasia Cantu type 2
Path 2
Term Annotations click to browse term
  disease 14641
    Pathological Conditions, Signs and Symptoms 11556
      Signs and Symptoms 9740
        Neurologic Manifestations 9431
          sensory system disease 6685
            skin disease 3910
              hair disease 301
                hypertrichosis 30
                  hypertrichotic osteochondrodysplasia Cantu type 2
paths to the root