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ONTOLOGY REPORT - ANNOTATIONS


Term:spondyloepimetaphyseal dysplasia, Genevieve-type
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Accession:DOID:0080576 term browser browse the term
Definition:A spondyloepimetaphyseal dysplasia that is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses and has_material_basis_in homozygous or compound heterozygous mutation in the NANS gene on chromosome 9q22. (DO)
Synonyms:exact_synonym: NANS deficiency;   SEMD, Genevieve type;   SEMDG
 primary_id: MESH:C535785
 alt_id: OMIM:610442;   RDO:0001091
 xref: GARD:10057;   ORDO:168454
For additional species annotation, visit the Alliance of Genome Resources.


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spondyloepimetaphyseal dysplasia, Genevieve-type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nans N-acetylneuraminate synthase JBrowse link 5 62,109,352 62,126,492 RGD:8554872
RGD:7240710
G Trim14 tripartite motif-containing 14 JBrowse link 5 62,128,941 62,154,424 RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15489
    physical disorder 759
      congenital nervous system abnormality 313
        microcephaly 218
          spondyloepimetaphyseal dysplasia, Genevieve-type 2
Path 2
Term Annotations click to browse term
  disease 0
    Developmental Diseases 8822
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7612
        genetic disease 7095
          monogenic disease 4789
            autosomal genetic disease 3769
              autosomal dominant disease 2311
                complex cortical dysplasia with other brain malformations 493
                  Malformations of Cortical Development, Group I 347
                    microcephaly 218
                      spondyloepimetaphyseal dysplasia, Genevieve-type 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.