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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:histiocytosis-lymphadenopathy plus syndrome
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Accession:DOID:0111278 term browser browse the term
Definition:A syndrome 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;   SHML;   familial Rosai-Dorfman disease;   histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures, and/or deafness;   pigmented hypertrichosis with insulin-dependent diabetes mellitus;   pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome;   sinus histiocytosis and massive lymphadenopathy
 primary_id: MESH:C538322
 alt_id: OMIM:602782
 xref: NCI:C36075
For additional species annotation, visit the Alliance of Genome Resources.



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Term Annotations click to browse term
  disease 18030
    syndrome 9456
      histiocytosis-lymphadenopathy plus syndrome 1
Path 2
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  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        sensory system disease 6469
          Otorhinolaryngologic Diseases 1556
            auditory system disease 975
              Hearing Disorders 800
                Hearing Loss 796
                  sensorineural hearing loss 652
                    histiocytosis-lymphadenopathy plus syndrome 1
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