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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
 xref: GARD:10057;   ORDO:168454
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
spondyloepimetaphyseal dysplasia, Genevieve-type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nans N-acetylneuraminate synthase ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Genevieve type OMIM
ClinVar
PMID:15726110 PMID:25741868 PMID:27213289 PMID:28492532 PMID:34163424 NCBI chr 5:60,780,441...60,797,583
Ensembl chr 5:60,780,392...60,814,950
JBrowse link
G Trim14 tripartite motif-containing 14 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Genevieve type ClinVar PMID:15726110 PMID:25741868 PMID:27213289 PMID:28492532 PMID:34163424 NCBI chr 5:60,800,032...60,825,481
Ensembl chr 5:60,800,032...60,824,858
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    physical disorder 4115
      congenital nervous system abnormality 1366
        microcephaly 1106
          spondyloepimetaphyseal dysplasia, Genevieve-type 2
Path 2
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11579
        genetic disease 11109
          monogenic disease 8599
            autosomal genetic disease 7602
              autosomal dominant disease 5125
                complex cortical dysplasia with other brain malformations 1426
                  Malformations of Cortical Development, Group I 1271
                    microcephaly 1106
                      spondyloepimetaphyseal dysplasia, Genevieve-type 2
paths to the root