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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:MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED
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Accession:DOID:9009180 term browser browse the term
Definition:An X-linked recessive congenital multisystemic disorder characterized by poor growth, global developmental delay with impaired intellectual development, and variable abnormalities of the cardiac, skeletal, and genitourinary systems. Pathogenetically, the disorder results from disrupted gene expression and signaling during embryogenesis, thus affecting multiple systems.
Synonyms:exact_synonym: LINKED SYNDROME;   LINKage-specific deubiquitylation deficiency-induced Embryonic Defects;   MCAND
 primary_id: OMIM:301056


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MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OTUD5 OTU deubiquitinase 5 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-neurodevelopmental syndrome, X-linked ClinVar
OMIM		 PMID:25741868 PMID:33131077 PMID:33523931 NCBI chr  X:48,922,024...48,958,381
Ensembl chr  X:48,922,024...48,958,386 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36466
      Neurodevelopmental Disorders 13565
        MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED 1
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32348
      nervous system disease 26239
        central nervous system disease 23473
          brain disease 21908
            disease of mental health 17217
              Neurodevelopmental Disorders 13565
                MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED 1
paths to the root