Spondylocostal dysostosis 3, autosomal recessive

Preferred Label : Spondylocostal dysostosis 3, autosomal recessive;

Symbol : SCDO3;

CISMeF acronym : SCDO3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the lunatic fringe gene (LFNG, 602576.0001);

Prefixed ID : #609813;

Details

Origin ID

609813;

UMLS CUI

C1853296;

Automatic exact mappings (from CISMeF team)
- LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase [ORDO Gene]
- LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase [HGNC gene]
- spondylocostal dysostosis [DO Concept]
Currated CISMeF NLP mapping
- spondylocostal dysostosis 3, autosomal recessive [MeSH concept]
DO Cross reference
- spondylocostal dysostosis [DO Concept]
Genes related to phenotype
- Lfng o-fucosylpeptide 3-beta-n-acetylglucosaminyltransferase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Hypoplasia of the odontoid process [HPO term]
- Kyphosis [HPO term]
- Rib fusion [HPO term]
- Scoliosis [HPO term]
- Short stature [HPO term]
- Slender finger [HPO term]
- Supernumerary vertebral ossification centers [HPO term]
- Vertebral segmentation defect [HPO term]
ORDO concept(s)
- Autosomal recessive spondylocostal dysostosis [ORDO Disease]
See also inter- (CISMeF)
- spondylocostal dysostosis, autosomal recessive [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- spondylocostal dysostosis 3, autosomal recessive [MeSH concept]

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