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Disease core ontology applied to Rare Diseases
Last uploaded:
February 7, 2014
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| Id | http://www.limics.org/hrdo/rdfns#pat_id_2225
http://www.limics.org/hrdo/rdfns#pat_id_2225
|
|---|---|
| Preferred Name | Encephalocraniocutaneous lipomatosis |
| Synonyms |
Haberland syndrome
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Haberland syndrome
|
|---|---|
| prefLabel |
Encephalocraniocutaneous lipomatosis
|
| id_MIM |
613001
|
| prevalence |
<1 / 1 000 000
|
| inheritance |
Autosomal dominant
|
| id_UMLS |
C0406612
|
| id_OMS |
E88.2
|
| prefixIRI |
hrdo:pat_id_2225
|
| id_Orpha |
2396
|
| subClassOf | |
| id_SNOMEDCT |
238905009
|
| patType |
disease
|
| id_MeSH |
C535736
|
| type | |
| id_Medline |
neant
|
| ageOfOnset |
Childhood
|
| ageOfDeath |
Any age
|
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