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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:INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES
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Accession:DOID:9001418 term browser browse the term
Definition:This disease is characterized by a phenotypic triad of severe developmental delay, coarse facial dysmorphisms, and Blaschkoid pigmentary mosaicism. The disorder affects both males and females.
Synonyms:exact_synonym: MRXSPF;   X-linked syndromic intellectual developmental disorder with pigmentary mosaicism and coarse facies
 primary_id: OMIM:301066


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INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tfe3 transcription factor binding to IGHM enhancer 3 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29758562 PMID:30595499 PMID:31833172 More... NCBI chr  X:14,729,547...14,742,830
Ensembl chr  X:14,729,550...14,742,571 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Neurodevelopmental Disorders 6848
        intellectual disability 4300
          INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            disease of mental health 8321
              developmental disorder of mental health 5554
                specific developmental disorder 4518
                  intellectual disability 4300
                    INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES 1
paths to the root