Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
skeletal dysplasia |
| gptkbp:affects |
bone development
cartilage development |
| gptkbp:characterizedBy |
macrocephaly
frontal bossing narrow thorax underdeveloped lungs severe shortening of limbs short ribs |
| gptkbp:diagnosedBy |
molecular genetic testing
prenatal ultrasound |
| gptkbp:firstDescribed |
gptkb:Pierre_Maroteaux
1967 |
| gptkbp:frequency |
rare
|
| gptkbp:hasType |
Type I
Type II |
| https://www.w3.org/2000/01/rdf-schema#label |
thanatophoric dysplasia
|
| gptkbp:ICD-10_code |
Q77.1
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:MeSH_ID |
D013789
|
| gptkbp:mortalityRate |
high
|
| gptkbp:mutationAssociatedWith |
gptkb:FGFR3_gene
|
| gptkbp:nameOrigin |
Greek for 'death bearing'
|
| gptkbp:OMIM |
187600
|
| gptkbp:onset |
prenatal
|
| gptkbp:prognosis |
lethal in perinatal period
|
| gptkbp:treatment |
supportive care
|
| gptkbp:Type_I_characterizedBy |
curved femurs
|
| gptkbp:Type_II_characterizedBy |
cloverleaf skull
straight femurs |
| gptkbp:bfsParent |
gptkb:FGFR3
|
| gptkbp:bfsLayer |
6
|