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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 brain abnormalities, poor growth, and dysmorphic facies
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Accession:DOID:0081099 term browser browse the term
Definition:An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with delayed walking, impaired intellectual development, and speech delay apparent from infancy or early childhood and that has_material_basis_in homozygous mutation in the ADAT3 gene on chromosome 19p13. (DO)
Synonyms:exact_synonym: INTELLECTUAL DISABILITY-STRABISMUS SYNDROME;   MRT36;   Mental Retardation, Autosomal Recessive 36
 primary_id: OMIM:615286
 alt_id: DOID:9003083
 xref: NCI:C186789

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neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adat3 adenosine deaminase tRNA specific 3 ISO ClinVar Annotator: match by term: Intellectual disability-strabismus syndrome OMIM
ClinVar		 PMID:23620220 PMID:25558065 PMID:25741868 PMID:26842963 PMID:29796286 More... NCBI chrNW_004936588:1,108,790...1,111,287 JBrowse link
G Scamp4 secretory carrier membrane protein 4 ISO ClinVar Annotator: match by term: Intellectual disability-strabismus syndrome ClinVar PMID:23620220 PMID:25558065 PMID:25741868 PMID:26842963 PMID:29796286 More... NCBI chrNW_004936588:1,104,098...1,119,761
Ensembl chrNW_004936588:1,104,098...1,119,778 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14511
    Developmental Disease 12617
      Neurodevelopmental Disorders 6314
        intellectual disability 4016
          autosomal recessive intellectual developmental disorder 283
            neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies 2
Path 2
Term Annotations click to browse term
  disease 14511
    disease of anatomical entity 14163
      nervous system disease 12397
        central nervous system disease 11088
          brain disease 10412
            disease of mental health 7475
              developmental disorder of mental health 5081
                specific developmental disorder 4203
                  intellectual disability 4016
                    autosomal recessive intellectual developmental disorder 283
                      neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies 2
paths to the root