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ONTOLOGY REPORT - ANNOTATIONS


Term:schneckenbecken dysplasia
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Accession:DOID:0050775 term browser browse the term
Definition:An osteochondrodysplasia that is characterized by hypoplastic iliac bones, hypoplastic vertebral bodies, short ribs and broad long bones, prenatally lethal, has_material_basis_in homozygous or compound heterozygous mutation in the SLC35D1 gene on chromosome 1p31. (DO)
Synonyms:exact_synonym: Chondrodysplasia, lethal neonatal, with snail-like pelvis;   SHNKND
 primary_id: MESH:C536637;   OMIM:269250
 alt_id: RDO:0002274
 xref: GARD:169
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schneckenbecken dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc35d1 solute carrier family 35 member D1 JBrowse link 5 122,700,396 122,746,815 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      bone development disease 994
        osteochondrodysplasia 408
          schneckenbecken dysplasia 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      Skin and Connective Tissue Diseases 4223
        connective tissue disease 2775
          bone disease 2227
            bone development disease 994
              osteochondrodysplasia 408
                schneckenbecken dysplasia 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.