Spondylocostal dysostosis 4, autosomal recessive

Preferred Label : Spondylocostal dysostosis 4, autosomal recessive;

Symbol : SCDO4;

CISMeF acronym : SCDO4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homolog of the Drosophila hairy/enhancer of split 7 gene (HES7, 608059.0001);

Prefixed ID : #613686;

Details

Origin ID

613686;

UMLS CUI

C3150942;

DO Cross reference
- spondylocostal dysostosis [DO Concept]
Genes related to phenotype
- Hes family bhlh transcription factor 7 [OMIM gene]
HPO term(s)
- Abnormal rib morphology [HPO term]
- Abnormality of the odontoid process [HPO term]
- Autosomal recessive inheritance [HPO term]
- Block vertebrae [HPO term]
- Dextrocardia [HPO term]
- Hemivertebrae [HPO term]
- Missing ribs [HPO term]
- Myelomeningocele [HPO term]
- Restrictive deficit on pulmonary function testing [HPO term]
- Restrictive ventilatory defect [HPO term]
- Rib fusion [HPO term]
- Short stature [HPO term]
- Short thorax [HPO term]
- Situs inversus totalis [HPO term]
- Spina bifida occulta [HPO term]
- Unilateral vertebral artery hypoplasia [HPO term]
- Vertebral fusion [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]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients