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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: AUTOSOMAL DOMINANT KAT6B-RELATED DISORDERS;   KAT6B-related spectrum disorder;   KAT6B-related spectrum disorders
 primary_id: MESH:C565255
 alt_id: OMIM:606170



show annotations for term's descendants           Sort by:
Genitopatellar Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adk adenosine kinase ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:22077973 PMID:23436491 PMID:25424711 PMID:27880066 PMID:28492532 NCBI chr15:2,863,241...3,246,453
Ensembl chr15:2,863,244...3,246,510
JBrowse link
G Ap3m1 adaptor related protein complex 3 subunit mu 1 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:28492532 NCBI chr15:3,246,616...3,264,846
Ensembl chr15:3,246,926...3,264,844
JBrowse link
G Comtd1 catechol-O-methyltransferase domain containing 1 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:22077973 PMID:23436491 PMID:25424711 PMID:27880066 PMID:28492532 NCBI chr15:2,459,783...2,462,895
Ensembl chr15:2,459,783...2,462,895
JBrowse link
G Dlg5 discs large MAGUK scaffold protein 5 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:28492532 NCBI chr15:75,786...209,735
Ensembl chr15:75,786...187,837
JBrowse link
G Dusp13b dual specificity phosphatase 13B ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:22077973 PMID:23436491 PMID:25424711 PMID:27880066 PMID:28492532 NCBI chr15:2,567,432...2,575,105
Ensembl chr15:2,533,547...2,575,539
JBrowse link
G Dusp29 dual specificity phosphatase 29 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:22077973 PMID:23436491 PMID:25424711 PMID:27880066 PMID:28492532 NCBI chr15:2,593,473...2,634,019
Ensembl chr15:2,593,578...2,633,503
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: ABSENT PATELLAE, SCROTAL HYPOPLASIA, RENAL ANOMALIES, FACIAL DYSMORPHISM, AND MENTAL RETARDATION | ClinVar Annotator: match by term: Autosomal dominant KAT6B-related disorders | ClinVar Annotator: match by term: Genitopatellar syndrome | ClinVar Annotator: match by term: KAT6B-Related Spectrum Disorders
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:9536098 PMID:12210329 PMID:12210330 PMID:16761293 PMID:17576681 More... RGD:9588485 NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:28492532 NCBI chr15:302,480...1,007,675
Ensembl chr15:302,214...1,001,198
JBrowse link
G Lgi1 leucine-rich, glioma inactivated 1 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:25741868 NCBI chr 1:236,043,269...236,084,617
Ensembl chr 1:236,042,954...236,084,616
JBrowse link
G Lrmda leucine rich melanocyte differentiation associated ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:22077973 PMID:23436491 PMID:25424711 PMID:27880066 PMID:28492532 NCBI chr15:1,223,098...2,284,764
Ensembl chr15:1,225,710...2,284,749
JBrowse link
G Plau plasminogen activator, urokinase ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:28492532 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:28492532 NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:28492532 NCBI chr16:89,538...94,267
Ensembl chr16:89,604...94,279
JBrowse link
G Samd8 sterile alpha motif domain containing 8 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:22077973 PMID:23436491 PMID:25424711 PMID:27880066 PMID:28492532 NCBI chr15:2,512,104...2,562,368
Ensembl chr15:2,512,105...2,515,379
Ensembl chr15:2,512,105...2,515,379
JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:28492532 NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606
JBrowse link
G Vdac2 voltage-dependent anion channel 2 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:22077973 PMID:23436491 PMID:25424711 PMID:27880066 PMID:28492532 NCBI chr15:2,462,877...2,476,802
Ensembl chr15:2,463,056...2,476,553
JBrowse link
G Zfp503 zinc finger protein 503 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:22077973 PMID:23436491 PMID:25424711 PMID:27880066 PMID:28492532 NCBI chr15:2,313,060...2,316,848
Ensembl chr15:2,313,060...2,316,848
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    syndrome 10725
      Genitopatellar Syndrome 17
Path 2
Term Annotations click to browse term
  disease 21122
    disease of anatomical entity 18162
      nervous system disease 14004
        central nervous system disease 12353
          brain disease 11587
            disease of mental health 8249
              developmental disorder of mental health 5493
                specific developmental disorder 4448
                  intellectual disability 4253
                    Genitopatellar Syndrome 17
paths to the root