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Disease core ontology applied to Rare Diseases
Last uploaded:
February 7, 2014
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| Preferred Name | Rothmund-Thomson syndrome type 2 | |
| Synonyms |
Poikiloderma of Rothmund-Thomson type 2 RTS2 |
|
| ID |
http://www.limics.org/hrdo/rdfns#pat_id_18930 |
|
| ageOfOnset |
Neonatal/infancy
|
|
| altLabel |
Poikiloderma of Rothmund-Thomson type 2 RTS2
|
|
| id_Medline |
neant
|
|
| id_MIM |
268400
|
|
| id_OMS |
Q82.8
|
|
| id_Orpha |
221016
|
|
| inheritance |
Autosomal recessive
|
|
| patType |
clinical subtype
|
|
| prefixIRI |
hrdo:pat_id_18930
|
|
| prefLabel |
Rothmund-Thomson syndrome type 2
|
|
| prevalence |
<1 / 1 000 000
|
|
| subClassOf |
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