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Keutel syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Mondo Description Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.
Uniprot Description An autosomal recessive disorder characterized by abnormal cartilage calcification, peripheral pulmonary stenosis neural hearing loss and midfacial hypoplasia.
Mondo Term and Equivalent IDs
MONDO:0009495:  Keutel syndrome
GARD:0008449: 
MESH:C536167: 
Orphanet:85202: 
SCTID:724208006: 
UMLS:C1855607: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)
No novelty measurements found