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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 39
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Accession:DOID:0081204 term browser browse the term
Definition:An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TTI2 gene on chromosome 8p12. (DO)
Synonyms:exact_synonym: MRT39;   Mental Retardation, Autosomal Recessive 39;   SEVERE INTELLECTUAL DISABILITY-SHORT STATURE-BEHAVIORAL ABNORMALITIES-FACIAL DYSMORPHISM SYNDROME
 primary_id: OMIM:615541
 alt_id: DOID:9007449


show annotations for term's descendants           Sort by:
autosomal recessive intellectual developmental disorder 39 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mak16 MAK16 homolog ISO ClinVar Annotator: match by term: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome ClinVar PMID:23956177 NCBI chr16:60,972,699...60,981,250
Ensembl chr16:60,972,697...60,983,243 		JBrowse link
G Tti2 TELO2 interacting protein 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 39 | ClinVar Annotator: match by term: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:21937992 PMID:23956177 PMID:25741868 PMID:31290144 PMID:31737043 More... NCBI chr16:60,980,665...60,988,587
Ensembl chr16:60,979,039...60,988,569 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Neurodevelopmental Disorders 6832
        intellectual disability 4290
          autosomal recessive intellectual developmental disorder 289
            autosomal recessive intellectual developmental disorder 39 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            disease of mental health 8301
              developmental disorder of mental health 5543
                specific developmental disorder 4505
                  intellectual disability 4290
                    autosomal recessive intellectual developmental disorder 289
                      autosomal recessive intellectual developmental disorder 39 2
paths to the root