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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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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14195
    Developmental Disease 12385
      Neurodevelopmental Disorders 6200
        intellectual disability 3927
          autosomal recessive intellectual developmental disorder 281
            neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies 0
Path 2
Term Annotations click to browse term
  disease 14195
    disease of anatomical entity 13850
      nervous system disease 12114
        central nervous system disease 10884
          brain disease 10218
            disease of mental health 7342
              developmental disorder of mental health 4985
                specific developmental disorder 4113
                  intellectual disability 3927
                    autosomal recessive intellectual developmental disorder 281
                      neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies 0
paths to the root