Spondylocostal dysostosis 2, autosomal recessive

Preferred Label : Spondylocostal dysostosis 2, autosomal recessive;

Symbol : SCDO2;

CISMeF acronym : SCDO2;

Type : Phenotype, molecular basis known;

Description : Spondylocostal dysostosis is a term given to a heterogeneous group of disorders characterized by abnormal vertebral segmentation. For a general phenotypic description and a discussion of genetic heterogeneity of the disorder, see SCDO1 (277300).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mesoderm posterior bHLH transcription factor 2 gene (MESP2, 605195.0001);

Prefixed ID : #608681;

Details

Origin ID

608681;

UMLS CUI

C1837549;

Automatic exact mappings (from CISMeF team)
- mesoderm posterior bHLH transcription factor 2 [ORDO Gene]
- mesoderm posterior bHLH transcription factor 2 [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal recessive spondylocostal dysostosis [ORDO Disease]
- spondylocostal dysostosis, autosomal recessive [MeSH Supplementary Concept]
DO Cross reference
- spondylocostal dysostosis [DO Concept]
Genes related to phenotype
- Mesoderm posterior basic helix-loop-helix transcription factor 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Disproportionate short-trunk short stature [HPO term]
- Hemivertebrae [HPO term]
- Recurrent respiratory infections [HPO term]
- Restrictive deficit on pulmonary function testing [HPO term]
- Restrictive ventilatory defect [HPO term]
- Rib fusion [HPO term]
- Short neck [HPO term]
- Vertebral clefting [HPO term]
- Vertebral segmentation defect [HPO term]
ORDO concept(s)
- Autosomal recessive spondylocostal dysostosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondylocostal dysostosis, autosomal recessive [MeSH concept]
- spondylocostal dysostosis, autosomal recessive [MeSH Supplementary Concept]

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