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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 ISO 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 chr10:34,692,868...34,702,849
Ensembl chr10:34,693,555...34,702,846
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      bone development disease 2303
        Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            disease of mental health 8301
              Neurodevelopmental Disorders 6832
                Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects 1
paths to the root