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ONTOLOGY REPORT - ANNOTATIONS


Term:Rothmund-Thomson syndrome
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Accession:DOID:2732 term browser browse the term
Definition:An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM.
Synonyms:exact_synonym: RTS;   Rothmund-Thomson poikiloderma;   congenital poikiloderma;   poikiloderma congenitale;   poikiloderma congenitale of Rothmund-Thomson;   poikiloderma congenitales;   poikiloderma of Rothmund Thomson
 narrow_synonym: HIGH GRADE SURFACE OSTEOSARCOMA
 primary_id: MESH:D011038
 xref: GARD:4392;   NCI:C3335;   OMIM:PS268400
For additional species annotation, visit the Alliance of Genome Resources.


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Rothmund-Thomson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Msh2 mutS homolog 2 JBrowse link 6 11,215,951 11,274,916 RGD:8554872
G Recql4 RecQ like helicase 4 JBrowse link 7 117,765,892 117,773,128 RGD:1599421
RGD:8554872
RGD:11554173
rapadilino syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Recql4 RecQ like helicase 4 JBrowse link 7 117,765,892 117,773,128 RGD:7240710
RGD:8554872
Rothmund-Thomson Syndrome Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Anapc1 anaphase promoting complex subunit 1 JBrowse link 3 121,147,484 121,226,125 RGD:7240710
RGD:8554872
Rothmund-Thomson Syndrome Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Recql4 RecQ like helicase 4 JBrowse link 7 117,765,892 117,773,128 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    syndrome 5231
      Rothmund-Thomson syndrome 3
        PARC Syndrome 0
        Rothmund-Thomson Syndrome Type 1 1
        Rothmund-Thomson Syndrome Type 2 1
        Skeletal Dysplasia with Telangiectases and Mesodermal Dysgenesis of the Iris 0
        Spastic Paraplegia Neuropathy Poikiloderma 0
        rapadilino syndrome 1
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      nervous system disease 10260
        sensory system disease 4697
          skin disease 2464
            Genetic Skin Diseases 760
              Rothmund-Thomson syndrome 3
                PARC Syndrome 0
                Rothmund-Thomson Syndrome Type 1 1
                Rothmund-Thomson Syndrome Type 2 1
                Skeletal Dysplasia with Telangiectases and Mesodermal Dysgenesis of the Iris 0
                Spastic Paraplegia Neuropathy Poikiloderma 0
                rapadilino syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.