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ONTOLOGY REPORT - ANNOTATIONS


Term:Histiocytosis with Joint Contractures and Sensorineural Deafness
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Accession:DOID:9002651 term browser browse the term
Synonyms:exact_synonym: Faisalabad histiocytosis;   H SYNDROME;   HISTIOCYTOSIS AND LYMPHADENOPATHY WITH OR WITHOUT CUTANEOUS, CARDIAC, AND/OR ENDOCRINE FEATURES, JOINT CONTRACTURES, AND/OR DEAFNESS;   HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME;   HJCD;   Hyperpigmentation, Cutaneous, with Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, and Hypogonadism With or Without Hearing Loss;   PHID;   PIGMENTED HYPERTRICHOSIS WITH INSULIN-DEPENDENT DIABETES MELLITUS;   Pigmented Hypertrichosis With Insulin-Dependent Diabetes Mellitus Syndrome;   ROSAI-DORFMAN DISEASE, FAMILIAL;   SHML;   SINUS HISTIOCYTOSIS AND MASSIVE LYMPHADENOPATHY
 primary_id: MESH:C538322;   RDO:0004284
 alt_id: OMIM:602782
For additional species annotation, visit the Alliance of Genome Resources.


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Histiocytosis with Joint Contractures and Sensorineural Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc29a3 solute carrier family 29 member 3 JBrowse link 20 30,289,527 30,327,343 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      Hemic and Lymphatic Diseases 1579
        lymphatic system disease 780
          histiocytosis 27
            Histiocytosis with Joint Contractures and Sensorineural Deafness 1
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      nervous system disease 9141
        sensory system disease 4249
          Otorhinolaryngologic Diseases 1019
            auditory system disease 643
              Hearing Disorders 529
                Hearing Loss 525
                  sensorineural hearing loss 417
                    Histiocytosis with Joint Contractures and Sensorineural Deafness 1
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.