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ONTOLOGY REPORT - ANNOTATIONS


Term:histiocytosis-lymphadenopathy plus syndrome
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Accession:DOID:0111278 term browser browse the term
Definition:An autosomal recessive disease characterized by histiocytosis, hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, and reduced height that has_material_basis_in homozygous or compound heterozygous mutation in SLC29A3 on 10q22.1. This syndrome comprises features from 4 histiocytic disorders that were previously considered distinct: Faisalabad histiocytosis, sinus histiocytosis with massive lymphadenopathy, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome. (DO)
Synonyms:exact_synonym: Faisalabad histiocytosis;   H SYNDROME;   HJCD;   Histiocytosis with Joint Contractures and Sensorineural Deafness;   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;   SHML;   familial Rosai-Dorfman disease;   histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures, and/or deafness;   sinus histiocytosis and massive lymphadenopathy
 primary_id: MESH:C538322
 alt_id: OMIM:602782;   RDO:0004284
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histiocytosis-lymphadenopathy plus syndrome 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

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Term Annotations click to browse term
  disease 15619
    sensory system disease 4674
      auditory system disease 684
        inner ear disease 495
          sensorineural hearing loss 459
            histiocytosis-lymphadenopathy plus syndrome 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          Otorhinolaryngologic Diseases 1075
            auditory system disease 684
              Hearing Disorders 569
                Hearing Loss 565
                  sensorineural hearing loss 459
                    histiocytosis-lymphadenopathy plus syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.