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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:Schinzel type phocomelia
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Accession:DOID:0112181 term browser browse the term
Definition:A syndrome characterized by severe malformations of upper and lower limbs,severely hypoplastic pelvis, and abnormal genitalia that has_material_basis_in homozygous or compound heterozygous mutation in the WNT7A gene on chromosome 3p25.1. (DO)
Synonyms:exact_synonym: AARRS;   Al Awadi Rass Rothschild syndrome;   Al Awadi Syndrome;   Al-Awadi-Raas-Rothschild Syndrome;   Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome;   LPHAS;   Limb-Pelvis Hypoplasia-Aplasia syndrome;   Schinzel phocomelia syndrome;   Ulna and fibula absence of with severe limb deficiency;   aplasia/hypoplasia of limbs and pelvis;   congenital absence of ulna and fibula;   severe limb deficit
 broad_synonym: WNT7A-related condition
 xref: GARD:9212;   MESH:C535612;   MIM:276820;   MONDO:0010164;   ORDO:2879


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Schinzel type phocomelia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt7a Wnt family member 7A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Schinzel phocomelia syndrome 		OMIM
CTD
ClinVar		 PMID:12809666 PMID:16826533 PMID:19282404 PMID:20949531 PMID:21271649 More... NCBI chr 4:125,420,276...125,466,149
Ensembl chr 4:125,420,276...125,466,149 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    syndrome 11437
      Schinzel type phocomelia 1
Path 2
Term Annotations click to browse term
  disease 19150
    Developmental Disease 14695
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13757
        genetic disease 13375
          monogenic disease 10875
            autosomal genetic disease 10343
              autosomal recessive disease 7133
                Schinzel type phocomelia 1
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