ONTOLOGY REPORT - ANNOTATIONS


Term:hypertrichotic osteochondrodysplasia Cantu type
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Accession:DOID:0060569 term browser browse the term
Definition:An osteochondrodysplasia 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
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hypertrichotic osteochondrodysplasia Cantu type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc9 ATP binding cassette subfamily C member 9 JBrowse link 4 176,806,098 176,928,540 RGD:7240710
RGD:8554872
RGD:11554173
G Kcnj8 potassium voltage-gated channel subfamily J member 8 JBrowse link 4 176,783,287 176,789,143 RGD:11554173

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Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7782
      bone development disease 896
        osteochondrodysplasia 406
          hypertrichotic osteochondrodysplasia Cantu type 2
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14096
      nervous system disease 9148
        sensory system disease 4270
          skin disease 2272
            hair disease 214
              hypertrichosis 20
                hypertrichotic osteochondrodysplasia Cantu type 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.