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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:Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects
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Accession:DOID:9006270 term browser browse the term
Definition:A disease characterized by global developmental delay, severely impaired intellectual development with poor or absent speech, characteristic facial features, and variable skeletal abnormalities. Caused by heterozygous mutation in the HNRNPH1 gene on chromosome 5q35.
Synonyms:exact_synonym: NEDCDS
 primary_id: OMIM:620083


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Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects OMIM
ClinVar		 PMID:25741868 PMID:27545675 PMID:29938792 PMID:32335897 PMID:32685970 NCBI chr 5:179,614,178...179,634,784
Ensembl chr 5:179,614,178...179,634,784 		JBrowse link
G LOC128966623 uncharacterized protein C5orf60 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects ClinVar PMID:25741868 PMID:27545675 PMID:29938792 PMID:32335897 PMID:32685970
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      bone development disease 3275
        Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects 2
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          brain disease 21902
            disease of mental health 17210
              Neurodevelopmental Disorders 13563
                Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects 2
paths to the root