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Disease core ontology applied to Rare Diseases
Last uploaded:
February 7, 2014
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| Preferred Name | Jackson-Weiss syndrome | |
| Synonyms |
JWS Craniosynostosis - midfacial hypoplasia - foot abnormalities |
|
| ID |
http://www.limics.org/hrdo/rdfns#pat_id_1699 |
|
| ageOfOnset |
Neonatal/infancy
|
|
| altLabel |
JWS Craniosynostosis - midfacial hypoplasia - foot abnormalities
|
|
| id_Medline |
http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Jackson+Weiss%5Btw%5D |
|
| id_MeSH |
C537559
|
|
| id_MIM |
123150
|
|
| id_OMS |
Q87.8
|
|
| id_Orpha |
1540
|
|
| id_UMLS |
C0795998
|
|
| inheritance |
Autosomal dominant
|
|
| patType |
malformation syndrome
|
|
| prefixIRI |
hrdo:pat_id_1699
|
|
| prefLabel |
Jackson-Weiss syndrome
|
|
| prevalence |
<1 / 1 000 000
|
|
| subClassOf |
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