loading...| Preferred Name | SPRENGEL DEFORMITY | |
| Synonyms |
HIGH SCAPULA |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/184400 |
|
| altLabel |
HIGH SCAPULA |
|
| cui |
C0152438 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU020899 http://purl.bioontology.org/ontology/OMIM/MTHU036568 http://purl.bioontology.org/ontology/OMIM/MTHU020904 http://purl.bioontology.org/ontology/OMIM/MTHU020898 http://purl.bioontology.org/ontology/OMIM/MTHU020900 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU065213 http://purl.bioontology.org/ontology/OMIM/MTHU036562 |
|
| MIMTYPEMEANING |
Mendelian phenotype or locus, molecular basis unknown. |
|
| notation |
184400 |
|
| OMIM Entry Type |
5 |
|
| OMIM MimType Value |
perc |
|
| prefLabel |
SPRENGEL DEFORMITY |
|
| Scope Statement |
Left side involvement more frequent than right side involvement [MISCELLANEOUS] Majority of cases are sporadic, some autosomal dominant families have been described [MISCELLANEOUS] Occurs more frequently in females [MISCELLANEOUS] Bilateral involvement in 10% of cases [MISCELLANEOUS] Isolated malformation by can be associated with other malformations (e.g., scoliosis, vertebral segmentation abnormalities, spina bifida, hemivertebrae, Klippel-Feil sequence, clavicular abnormalities, rib segmentation abnormalities, neck and shoulder muscle hypoplasia) [MISCELLANEOUS] |
|
| tui |
T019 |