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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: MIM: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 ISO 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 chr 7:52,130,445...52,222,338
Ensembl chr 7:52,130,441...52,223,575 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      musculoskeletal system disease 8463
        Musculoskeletal Abnormalities 3456
          Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies 1
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14355
        central nervous system disease 12628
          brain disease 11845
            disease of mental health 8440
              developmental disorder of mental health 5641
                specific developmental disorder 4605
                  intellectual disability 4377
                    Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies 1
paths to the root