Winchester syndrome

Preferred Label : Winchester syndrome;

Symbol : WNCHRS;

CISMeF acronym : WNCHRS;

Type : Phenotype, molecular basis known;

Description : Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to multicentric osteolysis, nodulosis, and arthropathy (MONA; 259600), but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported (summary by Zankl et al., 2007).;

Prefixed ID : #277950;

Details

Origin ID

277950;

UMLS CUI

C0432289;

Currated CISMeF NLP mapping
- Torg-Winchester syndrome [ORDO Disease]
- Winchester Syndrome [NCIt concept]
- Winchester syndrome [PASCAL descriptor]
- Winchester syndrome [MeSH concept]
- Winchester syndrome [MedDRA Preferred Term]
- Winchester syndrome [DO Concept]
- Winchester syndrome (disorder) [SNOMED CT concept]
- winchester syndrome [MeSH Supplementary Concept]
DO Cross reference
- Winchester syndrome [DO Concept]
Genes related to phenotype
- Matrix metalloproteinase 14 [OMIM gene]
HPO term(s)
- Arthropathy [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad metacarpals [HPO term]
- Carpal osteolysis [HPO term]
- Childhood onset [HPO term]
- Coarse facial features [HPO term]
- Corneal opacity [HPO term]
- Generalized osteoporosis [HPO term]
- Gingival overgrowth [HPO term]
- Hirsutism [HPO term]
- Infantile onset [HPO term]
- Kyphosis [HPO term]
- Osteolysis involving tarsal bones [HPO term]
- Subcutaneous nodule [HPO term]
ORDO concept(s)
- Multicentric osteolysis-nodulosis-arthropathy spectrum [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Winchester Syndrome [NCIt concept]
- Winchester syndrome [MeSH concept]
- Winchester syndrome [MedDRA Preferred Term]
- Winchester syndrome (disorder) [SNOMED CT concept]
- winchester syndrome [MeSH Supplementary Concept]

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