loading...| Preferred Name |
Stuve-Wiedemann syndrome |
|
| Synonyms |
Schwartz-Jampel Syndrome, Neonatal |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C537502 |
|
| altLabel |
Schwartz-Jampel Syndrome, Neonatal Schwartz Jampel syndrome neonatal Schwartz Jampel type 2 syndrome Schwartz-Jampel Syndrome, Type 2 Stuve-Wiedemann-Schwartz-Jampel type 2 syndrome |
|
| cui |
C0796176 |
|
| HM |
D010009 D005097 |
|
| Inverse of RB |
0 |
|
| Mapped to | ||
| MDA |
20101113 |
|
| MeSH Frequency |
22 |
|
| MMR |
20160929 |
|
| notation |
C537502 |
|
| prefLabel |
Stuve-Wiedemann syndrome |
|
| SC |
3 |
|
| Scope Statement |
A hereditary disorder characterized by multiple skeletal and craniofacial abnormalities; PULMONARY HYPERTENSION; DYSPHAGIA; respiratory distress, and hyperthermia. Most patients do not survive past infancy and those who do develop DYSAUTONOMIA. It is caused by mutations in the LEUKEMIA INHIBITORY FACTOR RECEPTOR ALPHA SUBUNIT (LIFR) gene. OMIM: 601559 |
|
| TERMUI |
T742822 T802238 T802237 T742820 T742823 T000889789 |
|
| TH |
OMIM (2013) ORD (2010) |
|
| tui |
T047 |