loading...| Preferred Name |
Langer-Giedion Syndrome [Disease/Finding] |
|
| Synonyms |
Trichorhinophalangeal Syndrome Type 2 Langer-Giedion Syndrome Acrodysplasia V Giedion-Langer Syndrome Trichorhinophalangeal Syndrome with Exostoses TRPSII Trichorhinophalangeal Syndrome Type II Tricho-Rhino-Phalangeal Syndrome Type II Trichorhinophalangeal Syndrome, Type II |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000003329 |
|
| altLabel |
Trichorhinophalangeal Syndrome Type 2 Langer-Giedion Syndrome Acrodysplasia V Giedion-Langer Syndrome Trichorhinophalangeal Syndrome with Exostoses TRPSII Trichorhinophalangeal Syndrome Type II Tricho-Rhino-Phalangeal Syndrome Type II Trichorhinophalangeal Syndrome, Type II |
|
| cui |
C0023003 |
|
| MESH DEFINITION |
Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. INTELLECTUAL DISABILITY and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses (EXOSTOSES, HEREDITARY MULTIPLE). |
|
| MESH DUI |
D015826 |
|
| MeSH name |
Langer-Giedion Syndrome |
|
| MESH UI |
M0024244 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000003329 |
|
| NUI |
N0000003329 |
|
| prefLabel |
Langer-Giedion Syndrome [Disease/Finding] |
|
| SNOMED CID |
41069008 |
|
| tui |
T047 |
|
| subClassOf |