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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

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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 term: Schneckenbecken dysplasia OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17952091 PMID:19508970 More... NCBI chrNW_004936591:4,519,136...4,574,925
Ensembl chrNW_004936591:4,531,403...4,570,631 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14499
    Developmental Disease 12616
      bone development disease 2185
        osteochondrodysplasia 833
          schneckenbecken dysplasia 1
Path 2
Term Annotations click to browse term
  disease 14499
    disease of anatomical entity 14148
      Skin and Connective Tissue Diseases 6479
        connective tissue disease 5036
          bone disease 3704
            bone development disease 2185
              osteochondrodysplasia 833
                schneckenbecken dysplasia 1
paths to the root