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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
 primary_id: MESH:C535612
 alt_id: OMIM:276820
 xref: GARD:9212;   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 ClinVar Annotator: match by term: Schinzel phocomelia syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16826533 PMID:20949531 PMID:21271649 PMID:21344627 PMID:25741868 NCBI chr 4:123,863,108...123,908,981
Ensembl chr 4:123,863,108...123,908,981 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      Schinzel type phocomelia 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          monogenic disease 10362
            autosomal genetic disease 9515
              autosomal recessive disease 6581
                Schinzel type phocomelia 1
paths to the root