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ONTOLOGY REPORT - ANNOTATIONS


Term:geroderma osteodysplasticum
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Accession:DOID:0111266 term browser browse the term
Definition:An autosomal recessive disease characterized by lax and wrinkled skin, progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit that has_material_basis_in homozygous or compound heterozygous mutation in GORAB on 1q24.2. (DO)
Synonyms:exact_synonym: GO;   Geroderma osteodysplastica hereditaria;   Walt Disney dwarfism;   geroderma osteodysplastica;   gerodermia osteodysplastica
 primary_id: MESH:C537799
 alt_id: DOID:9005031;   OMIM:231070;   RDO:0003703
 xref: GARD:413;   ORDO:2078
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geroderma osteodysplasticum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gorab golgin, RAB6-interacting JBrowse link 13 81,682,207 81,698,827 RGD:7240710
RGD:8554872
RGD:11554173

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Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        bone disease 2215
          geroderma osteodysplasticum 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        connective tissue disease 2763
          bone disease 2215
            bone development disease 983
              Dwarfism 308
                geroderma osteodysplasticum 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.