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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 Intellectual Developmental Disorder 112
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Accession:DOID:9008997 term browser browse the term
Definition:A neurodevelopmental disorder characterized by developmental delay, with speech delay more prominent than motor delay, autism or autism traits, and variable dysmorphic features. Caused by hemizygous or heterozygous mutation in the ZMYM3 gene on chromosome Xq13.
Synonyms:exact_synonym: XLID112;   ZMYM3-RELATED CONDITION
 primary_id: OMIM:301111


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X-Linked Intellectual Developmental Disorder 112 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zmym3 zinc finger MYM-type containing 3 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 112 | ClinVar Annotator: match by term: ZMYM3-related condition OMIM
ClinVar		 PMID:24721225 PMID:25741868 PMID:28492532 PMID:36586412 NCBI chr  X:66,528,585...66,544,234
Ensembl chr  X:66,528,585...66,544,782 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14398
      Neurodevelopmental Disorders 6845
        intellectual disability 4301
          syndromic intellectual disability 757
            syndromic X-linked intellectual disability 618
              X-Linked Intellectual Developmental Disorder 112 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      nervous system disease 14089
        central nervous system disease 12429
          brain disease 11667
            disease of mental health 8318
              developmental disorder of mental health 5554
                specific developmental disorder 4518
                  intellectual disability 4301
                    syndromic intellectual disability 757
                      syndromic X-linked intellectual disability 618
                        X-Linked Intellectual Developmental Disorder 112 1
paths to the root