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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 WNT7A 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
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:276820
ClinVar Annotator: match by term: Ulna and fibula absence of with severe limb deficiency
OMIM
ClinVar
PMID:16826533 PMID:20949531 PMID:21271649 PMID:21344627 NCBI chr 4:122,994,425...123,040,609
Ensembl chr 4:122,994,425...123,040,609
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    syndrome 7568
      Schinzel type phocomelia 1
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          monogenic disease 6330
            autosomal genetic disease 5485
              autosomal recessive disease 3224
                Schinzel type phocomelia 1
paths to the root