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: Poikiloderma Atrophicans and Cataract;   Poikiloderma Congenitale;   Poikiloderma Congenitale of Rothmund-Thomson;   Poikiloderma Congenitales;   Poikiloderma of Rothmund Thomson;   RTS;   Rothmund-Thomson poikiloderma;   congenital poikiloderma
 primary_id: MESH:D011038
 alt_id: OMIM:268400;   RDO:0000306
 xref: GARD:4392
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Rothmund-Thomson 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:1599421
RGD:7240710
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Rothmund-Thomson syndrome 1
        Navajo Poikiloderma 0
        PARC Syndrome 0
        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 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          skin disease 2253
            Genetic Skin Diseases 580
              Rothmund-Thomson syndrome 1
                Navajo Poikiloderma 0
                PARC Syndrome 0
                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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