Calvarial doughnut lesions with bone fragility

Preferred Label : Calvarial doughnut lesions with bone fragility;

Symbol : CDL;

CISMeF acronym : CDL; CDLSMD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Doughnut lesions of skull, familial;

Included titles and symbols : CDLSMD; Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the sphingomyelin synthase-2 gene (SGMS2, 611574.0001);

Prefixed ID : #126550;

Details

Origin ID

126550;

UMLS CUI

C1852022;

Currated CISMeF NLP mapping
- Calvarial doughnut lesions - bone fragility [ICD-11 More detail]
- Calvarial doughnut lesions-bone fragility syndrome [ORDO Disease]
- Doughnut lesion of calvaria and bone fragility syndrome (disorder) [SNOMED CT concept]
- calvarial doughnut lesions with bone fragility [DO Concept]
- doughnut lesions of skull, familial [MeSH concept]
- doughnut lesions of skull, familial [MeSH Supplementary Concept]
DO Cross reference
- calvarial doughnut lesions with bone fragility [DO Concept]
Genes related to phenotype
- Sphingomyelin synthase 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Carious teeth [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Femoral bowing [HPO term]
- Mixed hearing impairment [HPO term]
- Motor delay [HPO term]
- Osteopenia [HPO term]
- Osteoporosis [HPO term]
- Platyspondyly [HPO term]
- Recurrent fractures [HPO term]
- Scoliosis [HPO term]
- Severe short stature [HPO term]
- Thickened calvaria [HPO term]
ORDO concept(s)
- Calvarial doughnut lesions-bone fragility syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Calvarial doughnut lesions-bone fragility syndrome [ORDO Disease]
- Doughnut lesion of calvaria and bone fragility syndrome (disorder) [SNOMED CT concept]
- doughnut lesions of skull, familial [MeSH Supplementary Concept]
- doughnut lesions of skull, familial [MeSH concept]

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