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Disease core ontology applied to Rare Diseases
Last uploaded:
February 7, 2014
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| Preferred Name | Langer-Giedion syndrome | |
| Synonyms |
Trichorhinophalangeal syndrome type 2 Monosomy 8q24.1 Deletion 8q24.1 |
|
| ID |
http://www.limics.org/hrdo/rdfns#pat_id_526 |
|
| ageOfOnset |
Neonatal/infancy
|
|
| altLabel |
Trichorhinophalangeal syndrome type 2 Monosomy 8q24.1 Deletion 8q24.1
|
|
| id_MedDRA |
10050638
|
|
| id_Medline | ||
| id_MeSH |
C536555 D015826
|
|
| id_MIM |
150230
|
|
| id_OMS |
Q87.8
|
|
| id_Orpha |
502
|
|
| id_SNOMEDCT |
41069008
|
|
| id_UMLS |
C0023003 C2931237
|
|
| inheritance |
Autosomal dominant
|
|
| patType |
malformation syndrome
|
|
| prefixIRI |
hrdo:pat_id_526
|
|
| prefLabel |
Langer-Giedion syndrome
|
|
| prevalence |
Unknown
|
|
| subClassOf |
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