Meester-loeys syndrome

Preferred Label : Meester-loeys syndrome;

Symbol : MRLS;

CISMeF acronym : MRLS;

Type : Phenotype, molecular basis known;

Inheritance : X-linked;

Molecular basis : Caused by mutation in the biglycan gene (BGN, 301870.0003);

Prefixed ID : #300989;

Détails

Origin ID

300989;

UMLS CUI

C4310811;

Currated CISMeF NLP mapping
- Meester-Loeys Syndrome [NCIt concept]
- Meester-Loeys syndrome [DO Concept]
- X-linked severe syndromic thoracic aortic aneurysm and dissection [ORDO Disease]
DO Cross reference
- Meester-Loeys syndrome [DO Concept]
Genes related to phenotype
- Biglycan [OMIM gene]
HPO term(s)
- Abnormal sternum morphology [HPO term]
- Aortic dissection [HPO term]
- Bifid uvula [HPO term]
- Camptodactyly [HPO term]
- Cervical spine instability [HPO term]
- Dilatation of the cerebral artery [HPO term]
- Downslanted palpebral fissures [HPO term]
- Flexion contracture [HPO term]
- Frontal bossing [HPO term]
- Hypertelorism [HPO term]
- Joint dislocation [HPO term]
- Joint hypermobility [HPO term]
- Malar flattening [HPO term]
- Mitral regurgitation [HPO term]
- Pes planus [HPO term]
- Proptosis [HPO term]
- Pulmonary artery aneurysm [HPO term]
- Relative macrocephaly [HPO term]
- Ventriculomegaly [HPO term]
- X-linked inheritance [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Meester-Loeys Syndrome [NCIt concept]

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