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Browse result for Kenny-Caffey syndrome

※ introduction

    A syndrome that is characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia.

Reference
DiseaseOntology: Kenny-Caffey syndrome



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD11660Q96PZ263901
FAM111A
Serine protease FAM111A
Homo sapiens