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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:Genitopatellar Syndrome
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Accession:DOID:9005520 term browser browse the term
Synonyms:exact_synonym: Absent Patellae, Scrotal Hypoplasia, Renal Anomalies, Facial Dysmorphism, and Mental Retardation;   GTPTS
 broad_synonym: KAT6B-related spectrum disorder;   KAT6B-related spectrum disorders
 primary_id: MESH:C565255
 alt_id: OMIM:606170
For additional species annotation, visit the Alliance of Genome Resources.


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Genitopatellar Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dusp29 dual specificity phosphatase 29 ISO ClinVar Annotator: match by term: Genitopatellar syndrome
ClinVar Annotator: match by term: KAT6B-Related Spectrum Disorders
ClinVar PMID:12210329 PMID:12210330 PMID:16761293 PMID:22077973 PMID:22265014 PMID:22265017 PMID:23436491 PMID:25424711 PMID:25741868 PMID:28492532 PMID:29226580 PMID:32424177 NCBI chr15:2,766,929...2,806,573
Ensembl chr15:2,766,710...2,806,536
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by OMIM:606170
DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: Genitopatellar syndrome
ClinVar Annotator: match by term: KAT6B-Related Spectrum Disorders
OMIM
ClinVar
PMID:12210329 PMID:12210330 PMID:16761293 PMID:22077973 PMID:22265014 PMID:22265017 PMID:23436491 PMID:24033266 PMID:25326635 PMID:25424711 PMID:25473036 PMID:25741868 PMID:25937001 PMID:28492532 PMID:29226580 PMID:32424177, PMID:22265017 RGD:9588485 NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      Genitopatellar Syndrome 2
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            disease of mental health 5980
              developmental disorder of mental health 3114
                specific developmental disorder 2316
                  intellectual disability 2163
                    Genitopatellar Syndrome 2
paths to the root