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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 at is in the gene encoding the monocarboxylate transporter-8 which alters the structure and function of the SLC16A2 protein which is then unable to transport the thyroid triiodothyronine (T3) hormone into nerve cells of the developing brain affecting normal brain development resulting in intellectual disability and problems with movement. (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
 primary_id: MESH:C537047
 alt_id: OMIM:300523
 xref: GARD:5617;   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		 ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome | ClinVar Annotator: match by term: Mental retardation and muscular atrophy
CTD Direct Evidence: marker/mechanism
OMIM:300523		 OMIM
ClinVar
CTD
MouseDO		 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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21108
    syndrome 10708
      Allan-Herndon-Dudley syndrome 1
Path 2
Term Annotations click to browse term
  disease 21108
    disease of anatomical entity 18147
      nervous system disease 13987
        peripheral nervous system disease 4070
          neuropathy 3852
            neuromuscular disease 3029
              muscular disease 2117
                muscle tissue disease 1272
                  myopathy 992
                    muscular atrophy 85
                      Allan-Herndon-Dudley syndrome 1
paths to the root