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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;   PIGMENTED HYPERTRICHOSIS WITH INSULIN-DEPENDENT DIABETES MELLITUS;   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 syndrome;   sinus histiocytosis and massive lymphadenopathy
 primary_id: MESH:C538322
 alt_id: OMIM:602782
For additional species annotation, visit the Alliance of Genome Resources.


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histiocytosis-lymphadenopathy plus syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc29a3 solute carrier family 29 member 3 ISO ClinVar Annotator: match by OMIM:602782
ClinVar Annotator: match by null
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Histiocytosis-lymphadenopathy plus syndrome
OMIM
ClinVar
CTD
PMID:9545394, PMID:16118898, PMID:16155931, PMID:16650224, PMID:17461801, PMID:18414213, PMID:18940313, PMID:18947330, PMID:19175903, PMID:19336477, PMID:19889517, PMID:20140240, PMID:20595384, PMID:20619369, PMID:21178579, PMID:21888995, PMID:22238637, PMID:22653152, PMID:22875837, PMID:23406517, PMID:23530176, PMID:24172204, PMID:24894595, PMID:25741868, PMID:25963354, PMID:27143505, PMID:27364927, PMID:28492532, PMID:28554179, PMID:29041934, PMID:29751792, PMID:29808591 NCBI chr20:30,289,527...30,327,343
Ensembl chr20:30,287,424...30,327,361
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      histiocytosis-lymphadenopathy plus syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          Otorhinolaryngologic Diseases 1190
            auditory system disease 754
              Hearing Disorders 614
                Hearing Loss 609
                  sensorineural hearing loss 489
                    histiocytosis-lymphadenopathy plus syndrome 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.