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DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES - Ontology Report - Rat Genome Database

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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:DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES
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Accession:DOID:9004230 term browser browse the term
Definition:This disease is an early-onset neurodevelopmental disorder and is characterized by developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities.
Synonyms:exact_synonym: DEHMBA
 broad_synonym: SRCAP-RELATED CONDITION
 primary_id: MIM:619595

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DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srcap Snf2-related CREBBP activator protein ISO ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities OMIM
ClinVar		 PMID:11522779 PMID:18414213 PMID:20358590 PMID:22265015 PMID:22965468 More... NCBI chr 1:191,554,043...191,607,096
Ensembl chr 1:182,118,416...182,176,610 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Neurodevelopmental Disorders 6972
        Developmental Disabilities 757
          DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        central nervous system disease 12640
          brain disease 11858
            disease of mental health 8463
              Neurodevelopmental Disorders 6972
                Developmental Disabilities 757
                  DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES 1
paths to the root