Weill-marchesani syndrome 4

Preferred Label : Weill-marchesani syndrome 4;

Symbol : WMS4;

CISMeF acronym : WMSL; WMS4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Weill-marchesani-like syndrome; WMSL;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ADAM metallopeptidase domain with thrombospondin type 1 motif, 17 gene (ADAMTS17, 607511.0001);

Prefixed ID : #613195;

Details

Origin ID

613195;

UMLS CUI

C2750787;

Automatic exact mappings (from CISMeF team)
- Ichthyosis-short stature-brachydactyly-microspherophakia syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Weill-Marchesani-Like syndrome [MeSH concept]
- Weill-Marchesani-Like syndrome [MeSH Supplementary Concept]
DO Cross reference
- Weill-Marchesani syndrome [DO Concept]
Genes related to phenotype
- A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 17 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Ectopia lentis [HPO term]
- Glaucoma [HPO term]
- Iridodonesis [HPO term]
- Myopia [HPO term]
- Ocular hypertension [HPO term]
- Phakodonesis [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Ichthyosis-short stature-brachydactyly-microspherophakia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Weill-Marchesani-Like syndrome [MeSH Supplementary Concept]
- Weill-Marchesani-Like syndrome [MeSH concept]

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