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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:Carney complex
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Accession:DOID:0050471 term browser browse the term
Definition:A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity. (DO)
Synonyms:exact_synonym: CAR;   CARNEY MYXOMA-ENDOCRINE COMPLEX, TYPE 2;   CNC1;   CNC2;   Carney Myxoma Endocrine Complex;   Carney Myxoma Endocrine Complex, Type II;   Carney complex, type 1;   Carney complex, type 2;   Carney complex, type I;   Carney complex, type II;   Carney syndrome;   LAMB - lentigines, atrial myxoma, mucocutaneous myoma, blue nevus syndrome;   LAMB syndrome;   NAME syndrome;   myxoma, spotty pigmentation, and endocrine overactivity;   nevi, atrial myxoma, skin myxoma, ephelides syndrome
 primary_id: MESH:D056733
 alt_id: OMIM:160980;   OMIM:605244
 xref: GARD:1119;   NCI:C4705;   ORDO:1359


show annotations for term's descendants           Sort by:
Carney complex term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20a FAM20A, golgi associated secretory pathway pseudokinase ISO ClinVar Annotator: match by term: Carney complex | ClinVar Annotator: match by term: Carney complex, type 1 ClinVar PMID:11115848 PMID:19293268 PMID:24170103 PMID:28492532 NCBI chr10:94,638,836...94,697,814
Ensembl chr10:94,642,850...94,697,672 		JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:160980 | OMIM:605244 | OMIM:608837
ClinVar Annotator: match by term: CARNEY MYXOMA-ENDOCRINE COMPLEX | ClinVar Annotator: match by term: Carney complex | ClinVar Annotator: match by term: Carney complex, type 1 | ClinVar Annotator: match by term: Carney myxoma-endocrine complex | ClinVar Annotator: match by term: Myxoma, spotty pigmentation, and endocrine overactivity		 OMIM
CTD
MouseDO
ClinVar		 PMID:9536098 PMID:10973256 PMID:10974026 PMID:11115848 PMID:12213893 More... NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041 		JBrowse link
Carney Complex Variant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Carney complex variant
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1600999 PMID:4443857 PMID:4837286 PMID:12800911 PMID:15282353 More... NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Carney complex 3
        Carney Complex Variant 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sensory system disease 6940
            skin disease 3960
              Skin Abnormalities 1296
                Carney complex 3
                  Carney Complex Variant 1
paths to the root