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Disease core ontology applied to Rare Diseases
Last uploaded:
February 7, 2014
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| Preferred Name | Mandibuloacral dysplasia | |
| Synonyms |
MAD |
|
| ID |
http://www.limics.org/hrdo/rdfns#pat_id_2271 |
|
| ageOfDeath |
Normal
|
|
| ageOfOnset |
Neonatal/infancy
|
|
| altLabel |
MAD
|
|
| id_Medline |
http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Mandibuloacral+dysplasia |
|
| id_OMS |
Q87.5
|
|
| id_Orpha |
2457
|
|
| inheritance |
Autosomal recessive
|
|
| patType |
malformation syndrome
|
|
| prefixIRI |
hrdo:pat_id_2271
|
|
| prefLabel |
Mandibuloacral dysplasia
|
|
| prevalence |
<1 / 1 000 000
|
|
| subClassOf |
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