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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:autosomal recessive intellectual developmental disorder 34
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Accession:DOID:0081200 term browser browse the term
Definition:An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the CRADD gene on chromosome 12q22. (DO)
Synonyms:exact_synonym: MRT34;   autosomal recessive intellectual developmental disorder 34 with variant lissencephaly;   autosomal recessive mental retardation 34 with variant lissencephaly
 primary_id: MIM:614499
 alt_id: DOID:9003186


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autosomal recessive intellectual developmental disorder 34 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cradd CASP2 and RIPK1 domain containing adaptor with death domain ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY OMIM
ClinVar		 PMID:22279524 PMID:25741868 PMID:27773430 PMID:30914828 NCBI chr 7:29,940,240...29,952,907
Ensembl chr 7:29,798,586...29,952,907 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    physical disorder 5180
      congenital nervous system abnormality 1531
        lissencephaly 129
          autosomal recessive intellectual developmental disorder 34 1
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      nervous system disease 14336
        central nervous system disease 12608
          brain disease 11837
            disease of mental health 8428
              developmental disorder of mental health 5649
                specific developmental disorder 4605
                  intellectual disability 4384
                    autosomal recessive intellectual developmental disorder 293
                      autosomal recessive intellectual developmental disorder 34 1
paths to the root