Weill-marchesani syndrome 3

Preferred Label : Weill-marchesani syndrome 3;

Symbol : WMS3;

CISMeF acronym : WMS3;

Type : Phenotype, molecular basis known;

Description : Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and lens abnormalities (Faivre et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of WMS, see 277600.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the latent transforming growth factor-beta-binding protein 2 gene (LTBP2, 602091.0012);

Prefixed ID : #614819;

Details

Origin ID

614819;

UMLS CUI

C3553785;

Automatic exact mappings (from CISMeF team)
- LTBP2 wt Allele [NCIt concept]
DO Cross reference
- Weill-Marchesani syndrome [DO Concept]
Genes related to phenotype
- Latent transforming growth factor-beta-binding protein 2 [OMIM gene]
HPO term(s)
- Aortic valve stenosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Ectopia lentis [HPO term]
- Joint stiffness [HPO term]
- Microspherophakia [HPO term]
- Myopia [HPO term]
- Ocular hypertension [HPO term]
- Pulmonic stenosis [HPO term]
- Shallow anterior chamber [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Weill-Marchesani syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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