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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:300523
ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome
ClinVar Annotator: match by term: MCT8 (SLC16A2)-Specific Thyroid Hormone Cell Transporter Deficiency
ClinVar Annotator: match by term: Mental retardation and muscular atrophy
OMIM
ClinVar
PMID:1605231 PMID:8484404 PMID:12871948 PMID:14661163 PMID:15889350 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 17205
    syndrome 8125
      Allan-Herndon-Dudley syndrome 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        central nervous system disease 10373
          brain disease 9736
            disease of mental health 7038
              developmental disorder of mental health 4374
                specific developmental disorder 3633
                  intellectual disability 3444
                    syndromic intellectual disability 761
                      Mental Retardation, X-Linked 719
                        Allan-Herndon-Dudley syndrome 1
paths to the root