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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: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
For additional species annotation, visit the Alliance of Genome Resources.


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schneckenbecken dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc35d1 solute carrier family 35 member D1 ISO ClinVar Annotator: match by OMIM:269250
ClinVar Annotator: match by term: Schneckenbecken dysplasia
OMIM
ClinVar
PMID:17952091 PMID:19508970 PMID:28492532 NCBI chr 5:122,700,396...122,746,815
Ensembl chr 5:122,699,587...122,746,839
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      bone development disease 1344
        osteochondrodysplasia 449
          schneckenbecken dysplasia 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      Skin and Connective Tissue Diseases 5492
        connective tissue disease 4166
          bone disease 3538
            bone development disease 1344
              osteochondrodysplasia 449
                schneckenbecken dysplasia 1
paths to the root