Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/126550
http://purl.bioontology.org/ontology/OMIM/126550
|
|---|---|
| Preferred Name | CALVARIAL DOUGHNUT LESIONS WITH BONE FRAGILITY |
| Synonyms |
CALVARIAL DOUGHNUT LESIONS WITH BONE FRAGILITY AND SPONDYLOMETAPHYSEAL DYSPLASIA
CDL
CDLSMD
DOUGHNUT LESIONS OF SKULL, FAMILIAL
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CALVARIAL DOUGHNUT LESIONS WITH BONE FRAGILITY AND SPONDYLOMETAPHYSEAL DYSPLASIA
CDL
CDLSMD
DOUGHNUT LESIONS OF SKULL, FAMILIAL
|
|---|---|
| prefLabel | CALVARIAL DOUGHNUT LESIONS WITH BONE FRAGILITY
|
| Gene Symbol |
SMS2
SGMS2
CDL
|
| Scope Statement | Patients with gain-of-function mutations exhibit a more severe phenotype, including fractures at birth, severe short stature, and spondylometaphyseal dysplasia [MISCELLANEOUS]
Caused by mutation in the sphingomyelin synthase-2 gene (SGMS2, 611574.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 4q25
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 126550
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C5193004
C1852022
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |