Weissenbacher-zweymuller syndrome

Preferred Label : Weissenbacher-zweymuller syndrome;

Obsolete resource : true;

Moved to : 184840;

Alternative titles and symbols : Wzs; Pierre robin syndrome with fetal chondrodysplasia;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the collagen xi, alpha-2 polypeptide gene (col11a2,120290.0004);

Prefixed ID : 277610;

Details

Origin ID

277610;

UMLS CUI

C1848488;

Currated CISMeF NLP mapping
- Pierre Robin syndrome with fetal chondrodysplasia [MeSH concept]
- Weissenbacher- Zweymuller syndrome [ICD-11 More detail]
- Weissenbacher-Zweymuller syndrome [DO Concept]
- Weissenbacher-Zweymuller syndrome [ORDO Disease]
- Weissenbacher-Zweymuller syndrome (disorder) [SNOMED CT concept]
- pierre robin syndrome with fetal chondrodysplasia [MeSH Supplementary Concept]
HPO term(s)
- Dumbbell widening of long bone metaphyses [HPO term]
- Flattened nasal bridge [HPO term]
- Rhizomelic shortening [HPO term]
ORDO concept(s)
- Weissenbacher-Zweymuller syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- OSMED heterozygous [MedDRA LLT]
- Pierre Robin syndrome with fetal chondrodysplasia [MeSH concept]
- Weissenbacher- Zweymuller syndrome [ICD-11 More detail]
- Weissenbacher-Zweymuller syndrome [ORDO Disease]
- Weissenbacher-Zweymuller syndrome [MedDRA LLT]
- Weissenbacher-Zweymuller syndrome (disorder) [SNOMED CT concept]
- pierre robin syndrome with fetal chondrodysplasia [MeSH Supplementary Concept]

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