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ONTOLOGY REPORT - ANNOTATIONS


Term:Multiple Hamartoma Syndrome
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Accession:DOID:9001527 term browser browse the term
Definition:A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE.
Synonyms:exact_synonym: BRRS;   CS;   Macrocephaly, Pseudopapilledema, and Multiple Hemangiomas;   Macrocephaly, Pseudopapilledema, and Multiple Hemangiomata;   Multiple Hamartoma Syndromes;   PTEN hamartoma tumor syndrome;   RMSS;   macrocephaly, multiple lipomas, and hemangiomata
 narrow_synonym: CEREBELLAR GRANULE CELL HYPERTROPHY AND MEGALENCEPHALY;   CEREBELLOPARENCHYMAL DISORDER VI;   Colorectal hamartomatous polyposis and ganglioneuromatosis;   MHAM DYSPLASTIC GANGLIOCYTOMA OF THE CEREBELLUM;   PROTEUS-LIKE SYNDROME
 primary_id: MESH:D006223
 alt_id: OMIA:001515;   RDO:0001185
For additional species annotation, visit the Alliance of Genome Resources.


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Multiple Hamartoma Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:11554173
G Klln killin, p53-regulated DNA replication inhibitor JBrowse link 1 251,417,849 251,420,794 RGD:8554872
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:1302552
RGD:8554872
RGD:11554173
RGD:12859041
RGD:12859035
RGD:12802361
RGD:12802356
G Sdhb succinate dehydrogenase complex iron sulfur subunit B JBrowse link 5 159,484,378 159,505,063 RGD:8554872
Bannayan-Riley-Ruvalcaba syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:8554872
RGD:13592920
G Sdhb succinate dehydrogenase complex iron sulfur subunit B JBrowse link 5 159,484,378 159,505,063 RGD:8554872
Cowden syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Efcab10 EF-hand calcium binding domain 10 JBrowse link 6 52,702,304 52,709,223 RGD:8554872
G Egfr epidermal growth factor receptor JBrowse link 14 99,919,485 100,104,136 RGD:8554872
G Klln killin, p53-regulated DNA replication inhibitor JBrowse link 1 251,417,849 251,420,794 RGD:8554872
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:8554872
RGD:7240710
G Rint1 RAD50 interactor 1 JBrowse link 4 7,851,602 7,885,446 RGD:8554872
G Sdhb succinate dehydrogenase complex iron sulfur subunit B JBrowse link 5 159,484,378 159,505,063 RGD:8554872
G Sdhd succinate dehydrogenase complex subunit D JBrowse link 8 55,028,125 55,037,604 RGD:8554872
Cowden Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klln killin, p53-regulated DNA replication inhibitor JBrowse link 1 251,417,849 251,420,794 RGD:7240710
Cowden Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:7240710
RGD:8554872
Cowden Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt1 AKT serine/threonine kinase 1 JBrowse link 6 137,218,398 137,239,970 RGD:8554872
RGD:7240710
Cowden Syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sec23b Sec23 homolog B, coat complex II component JBrowse link 3 138,715,118 138,757,111 RGD:8554872
RGD:7240710
RGD:11554173
Cowden-Like Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:8554872
G Sdhb succinate dehydrogenase complex iron sulfur subunit B JBrowse link 5 159,484,378 159,505,063 RGD:8554872
Proteus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt1 AKT serine/threonine kinase 1 JBrowse link 6 137,218,398 137,239,970 RGD:5509063
RGD:8554872
RGD:7240710
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:11554173
RGD:8554872
PTEN hamartoma tumor syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klln killin, p53-regulated DNA replication inhibitor JBrowse link 1 251,417,849 251,420,794 RGD:8554872
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:8554872
G Sdhb succinate dehydrogenase complex iron sulfur subunit B JBrowse link 5 159,484,378 159,505,063 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      Multiple Hamartoma Syndrome 11
        Bannayan-Riley-Ruvalcaba syndrome 3
        Cerebellar Granule Cell Hypertrophy and Megalencephaly 0
        Cerebelloparenchymal Disorder VI 0
        Cowden syndrome + 10
        Cowden-Like Syndrome 3
        Graham Boyle Troxell Syndrome 0
        Heart Defect, Tongue Hamartoma and Polysyndactyly 0
        Multiple Basal Cell Carcinoma 0
        PTEN hamartoma tumor syndrome 4
        Proteus syndrome + 2
        Sacral Hemangiomas Multiple Congenital Abnormalities 0
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          Hereditary Neoplastic Syndromes 647
            Multiple Hamartoma Syndrome 11
              Bannayan-Riley-Ruvalcaba syndrome 3
              Cerebellar Granule Cell Hypertrophy and Megalencephaly 0
              Cerebelloparenchymal Disorder VI 0
              Cowden syndrome + 10
              Cowden-Like Syndrome 3
              Graham Boyle Troxell Syndrome 0
              Heart Defect, Tongue Hamartoma and Polysyndactyly 0
              Multiple Basal Cell Carcinoma 0
              PTEN hamartoma tumor syndrome 4
              Proteus syndrome + 2
              Sacral Hemangiomas Multiple Congenital Abnormalities 0
paths to the root