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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:Allan-Herndon-Dudley syndrome
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Accession:DOID:0050631 term browser browse the term
Definition:A syndrome that has_material_basis_in mutation in the MCT8 gene on chromosome Xq13. (DO)
Synonyms:exact_synonym: AHDS;   Allan-Herndon syndrome;   MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency;   Monocarboxylate Transporter 8 (Mct8) Deficiency;   Monocarboxylate transporter-8 deficiency;   T3 resistance;   X-linked mental retardation with hypotonia;   mental retardation and muscular atrophy;   triiodothyronine resistance
 xref: GARD:5617;   MESH:C537047;   MIM:300523;   MONDO:0010354;   NCI:C118843;   ORDO:59



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Allan-Herndon-Dudley syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc16a2 solute carrier family 16 member 2 ISO
ISS
CTD Direct Evidence: marker/mechanism
OMIM:300523
ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome | ClinVar Annotator: match by term: Mental retardation and muscular atrophy
OMIM
CTD
MouseDO
ClinVar
PMID:1605231 PMID:8484404 PMID:12871948 PMID:14661163 PMID:15488219 More... NCBI chr  X:68,725,365...68,848,572
Ensembl chr  X:68,723,261...68,848,771
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    syndrome 10904
      Allan-Herndon-Dudley syndrome 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18272
      nervous system disease 14119
        peripheral nervous system disease 4132
          neuropathy 3915
            neuromuscular disease 3064
              muscular disease 2152
                muscle tissue disease 1299
                  myopathy 1014
                    muscular atrophy 88
                      Allan-Herndon-Dudley syndrome 1
paths to the root