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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 with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies
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Accession:DOID:9003704 term browser browse the term
Definition:A disease characterized by mildly impaired global development, speech delay with nasal speech, and dysmorphic facial features, including high forehead, midface hypoplasia, micrognathia or high-arched palate, hypo/hypertelorism, upslanting palpebral fissures, and thin upper lip.
Synonyms:exact_synonym: IDNADFS
 primary_id: OMIM:618608
 xref: EFO:0010630


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Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNOT2 CCR4-NOT transcription complex subunit 2 IAGP ClinVar Annotator: match by term: Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies OMIM
ClinVar		 PMID:25741868 PMID:31145527 PMID:31512373 NCBI chr12:70,243,018...70,354,993
Ensembl chr12:70,243,002...70,354,993 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      musculoskeletal system disease 11642
        Musculoskeletal Abnormalities 5236
          Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies 1
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
              developmental disorder of mental health 12014
                specific developmental disorder 7407
                  intellectual disability 7166
                    Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies 1
paths to the root