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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:HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME
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Accession:DOID:9008002 term browser browse the term
Definition:This is a disease characterized by global developmental delay with delayed walking or inability to walk, impaired intellectual development with poor or absent speech, axial hypotonia and dysmorphic facies.
Synonyms:exact_synonym: HINCONS;   RALA-RELATED CONDITION
 primary_id: MIM:619311


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HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rala RAS like proto-oncogene A ISO ClinVar Annotator: match by term: Hiatt-Neu-Cooper neurodevelopmental syndrome | ClinVar Annotator: match by term: RALA-related condition OMIM
ClinVar		 PMID:11701921 PMID:15950903 PMID:15980073 PMID:25741868 PMID:28492532 More... NCBI chr17:47,092,163...47,145,192
Ensembl chr17:47,092,207...47,144,063 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19087
    Developmental Disease 14584
      Neurodevelopmental Disorders 6902
        intellectual disability 4379
          HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 19087
    disease of anatomical entity 18376
      nervous system disease 14241
        central nervous system disease 12570
          brain disease 11791
            disease of mental health 8376
              developmental disorder of mental health 5602
                specific developmental disorder 4599
                  intellectual disability 4379
                    HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME 1
paths to the root