Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
autonomic nervous system
skeletal system |
| gptkbp:causedBy |
mutation in LIFR gene
|
| gptkbp:firstDescribed |
1971
|
| gptkbp:hasOrphanetID |
ORPHA:899
|
| https://www.w3.org/2000/01/rdf-schema#label |
Stüve-Wiedemann syndrome
|
| gptkbp:ICD-10_code |
Q77.4
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mortalityRate |
high in infancy
|
| gptkbp:namedAfter |
gptkb:Hans-Rudolf_Wiedemann
Heinz Stüve |
| gptkbp:OMIM |
601559
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
respiratory distress
hyperthermia dysautonomia feeding difficulties joint contractures bowing of long bones |
| gptkbp:bfsParent |
gptkb:LIFR
gptkb:LIF_receptor |
| gptkbp:bfsLayer |
8
|