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Browse result for X-linked chondrodysplasia punctata 1

※ introduction

    A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, and that has_material_basis_in a mutation in the ARSE gene on chromosome Xp22.

Reference
DiseaseOntology: X-linked chondrodysplasia punctata 1


PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD05453P51690415
ARSL
Arylsulfatase L
Homo sapiens