ONTOLOGY REPORT - ANNOTATIONS


Term:Allan-Herndon-Dudley syndrome
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Accession:DOID:0050631 term browser browse the term
Definition:A X-linked recessive disease 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;   Mental retardation and muscular atrophy;   Monocarboxylate Transporter 8 (Mct8) Deficiency;   Monocarboxylate transporter-8 deficiency;   T3 Resistance;   X-linked mental retardation with hypotonia;   triiodothyronine resistance
 primary_id: MESH:C537047
 alt_id: OMIM:300523;   RDO:0002806
 xref: GARD:5617
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Allan-Herndon-Dudley syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc16a2 solute carrier family 16 member 2 JBrowse link X 74,578,600 74,706,068 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14823
    syndrome 4218
      Allan-Herndon-Dudley syndrome 1
Path 2
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  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          brain disease 6412
            disease of mental health 4323
              developmental disorder of mental health 2594
                specific developmental disorder 1329
                  intellectual disability 1157
                    syndromic intellectual disability 211
                      Mental Retardation, X-Linked 198
                        Allan-Herndon-Dudley syndrome 1
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