※ PTMD 2.0 database Online Browse Options
Browse result for Stuve-wiedemann syndrome
※ introduction Stuve-Wiedemann syndrome is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, episodic hyperthermia, respiratory distress, and feeding difficulties usually resulting in early death (Dagoneau et al., 2004).
Reference
OMIM: Stuve-wiedemann syndrome
Reference
OMIM: Stuve-wiedemann syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD00594 | P42702 | 3977 | LIFR | Leukemia inhibitory factor receptor | Homo sapiens |
