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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;   Rosai–Dorfman disease;   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: MIM:602782
 xref: EFO:1000528;   GARD:7588;   ICDO:9749/3;   MONDO:0006412;   NCI:C36075

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  disease 14215
    syndrome 9649
      histiocytosis-lymphadenopathy plus syndrome 1
Path 2
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  disease 14215
    Pathological Conditions, Signs and Symptoms 11244
      Signs and Symptoms 9457
        Neurologic Manifestations 9158
          sensory system disease 6504
            Otorhinolaryngologic Diseases 1620
              auditory system disease 946
                Hearing Disorders 747
                  Hearing Loss 742
                    sensorineural hearing loss 561
                      histiocytosis-lymphadenopathy plus syndrome 1
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