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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:hypertrophic cardiomyopathy 12
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Accession:DOID:0110318 term browser browse the term
Definition:A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the CSRP3 gene on chromosome 11p15. (DO)
Synonyms:exact_synonym: CMH12;   cardiomyopathy familial hypertrophic 12
 broad_synonym: CSRP3-RELATED DISORDER
 primary_id: MIM:612124


show annotations for term's descendants           Sort by:
hypertrophic cardiomyopathy 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csrp3 cysteine and glycine rich protein 3 ISO
ISS 		OMIM:612124
ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 		OMIM
MouseDO
ClinVar		 PMID:8994428 PMID:9039266 PMID:9536098 PMID:12507422 PMID:12642359 More... NCBI chr 1:107,664,338...107,682,916
Ensembl chr 1:107,664,338...107,682,916 		JBrowse link
G Igsf22 immunoglobulin superfamily member 22 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:12642359 PMID:14567970 PMID:16352453 PMID:20087448 PMID:28492532 More... NCBI chr 1:106,738,196...106,754,732 JBrowse link
G Ldha lactate dehydrogenase A ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:12642359 PMID:14567970 PMID:16352453 PMID:20087448 PMID:28492532 More... NCBI chr 1:106,508,092...106,517,512
Ensembl chr 1:106,502,182...106,517,521 		JBrowse link
G Ldhc lactate dehydrogenase C ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:12642359 PMID:14567970 PMID:16352453 PMID:20087448 PMID:28492532 More... NCBI chr 1:106,522,140...106,539,649
Ensembl chr 1:106,522,236...106,542,802 		JBrowse link
G Mrgprb2 MAS-related GPR, member B2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:12642359 PMID:14567970 PMID:16352453 PMID:20087448 PMID:28492532 More... NCBI chr 1:107,537,410...107,539,432
Ensembl chr 1:107,537,410...107,539,432 		JBrowse link
G Mrgprx2 MAS related GPR family member X2 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:12642359 PMID:14567970 PMID:16352453 PMID:20087448 PMID:28492532 More... NCBI chr 1:107,252,467...107,271,809 JBrowse link
G Ptpn5 protein tyrosine phosphatase, non-receptor type 5 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:12642359 PMID:14567970 PMID:16352453 PMID:20087448 PMID:28492532 More... NCBI chr 1:106,756,896...106,817,369
Ensembl chr 1:106,756,896...106,816,828 		JBrowse link
G Spty2d1 SPT2 chromatin protein domain containing 1 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:12642359 PMID:14567970 PMID:16352453 PMID:20087448 PMID:28492532 More... NCBI chr 1:106,667,750...106,685,871
Ensembl chr 1:106,667,750...106,685,871 		JBrowse link
G Tmem86a transmembrane protein 86A ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:12642359 PMID:14567970 PMID:16352453 PMID:20087448 PMID:28492532 More... NCBI chr 1:106,732,168...106,736,518
Ensembl chr 1:106,661,042...106,736,516 		JBrowse link
G Tsg101 tumor susceptibility 101 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:12642359 PMID:14567970 PMID:16352453 PMID:20087448 PMID:28492532 More... NCBI chr 1:106,549,035...106,578,859
Ensembl chr 1:106,535,021...106,578,775 		JBrowse link
G Uevld UEV and lactate/malate dehydrogenase domains ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:12642359 PMID:14567970 PMID:16352453 PMID:20087448 PMID:28492532 More... NCBI chr 1:106,589,199...106,622,333
Ensembl chr 1:106,590,448...106,622,155 		JBrowse link
G Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 ISO ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 ClinVar PMID:12642359 PMID:14567970 PMID:16352453 PMID:20087448 PMID:28492532 More... NCBI chr 1:107,623,599...107,662,178
Ensembl chr 1:107,623,599...107,662,178 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19154
    Developmental Disease 14697
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13758
        genetic disease 13375
          familial hypertrophic cardiomyopathy 140
            hypertrophic cardiomyopathy 12 12
Path 2
Term Annotations click to browse term
  disease 19154
    disease of anatomical entity 18461
      cardiovascular system disease 5553
        vascular disease 4037
          artery disease 2864
            aortic disease 821
              aortic valve disease 390
                aortic valve stenosis 369
                  subvalvular aortic stenosis 305
                    hypertrophic cardiomyopathy 303
                      familial hypertrophic cardiomyopathy 140
                        hypertrophic cardiomyopathy 12 12
paths to the root