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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:X-Linked Mental Retardation with Panhypopituitarism
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Accession:DOID:9000947 term browser browse the term
Synonyms:exact_synonym: MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISM MENTAL RETARDATION, X-LINKED, WITH ISOLATED GROWTH HORMONE DEFICIENCY,
 narrow_synonym: MRGH
 primary_id: MESH:C567485
 alt_id: OMIM:300123
For additional species annotation, visit the Alliance of Genome Resources.


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X-Linked Mental Retardation with Panhypopituitarism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Mental retardation with panhypopituitarism, X-linked OMIM
ClinVar
PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:144,035,162...144,037,364
Ensembl chr  X:144,035,883...144,037,294
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    Developmental Disease 10897
      Neurodevelopmental Disorders 5664
        intellectual disability 3433
          Mental Retardation, X-Linked 717
            X-Linked Mental Retardation with Panhypopituitarism 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        central nervous system disease 10353
          brain disease 9712
            disease of mental health 7022
              developmental disorder of mental health 4362
                specific developmental disorder 3621
                  intellectual disability 3433
                    syndromic intellectual disability 759
                      Mental Retardation, X-Linked 717
                        X-Linked Mental Retardation with Panhypopituitarism 1
paths to the root