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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


show annotations for term's descendants           Sort by:
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Intellectual disability-strabismus syndrome		 OMIM
CTD
ClinVar		 PMID:23620220 PMID:25558065 PMID:25741868 PMID:25741916 PMID:26842963 More... NCBI chr 7:9,109,070...9,113,673
Ensembl chr 7:9,101,187...9,115,340 		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:25741916 PMID:26842963 More... NCBI chr 7:9,101,504...9,113,929
Ensembl chr 7:9,101,489...9,113,967 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Neurodevelopmental Disorders 6831
        intellectual disability 4289
          autosomal recessive intellectual developmental disorder 289
            neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            disease of mental health 8300
              developmental disorder of mental health 5542
                specific developmental disorder 4504
                  intellectual disability 4289
                    autosomal recessive intellectual developmental disorder 289
                      neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies 2
paths to the root