Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
|
| gptkbp:affects |
collagen
respiratory system skeletal system |
| gptkbp:causedBy |
mutations in MGP gene
|
| gptkbp:characterizedBy |
hearing loss
midface hypoplasia abnormal cartilage calcification brachytelephalangy peripheral pulmonary stenosis |
| gptkbp:firstDescribed |
1971
J. Keutel |
| https://www.w3.org/2000/01/rdf-schema#label |
Keutel syndrome
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
245150
|
| gptkbp:symptom |
dental anomalies
epistaxis recurrent respiratory infections mild intellectual disability short terminal phalanges tracheobronchial calcification |
| gptkbp:bfsParent |
gptkb:matrix_Gla_protein
|
| gptkbp:bfsLayer |
6
|