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Entry Name Description Category Pathway Gene
H00491 Craniometaphyseal dysplasia Craniometaphyseal dysplasia, caused by mutations in ANKH, is a very rare condition characterized by progressive hyperostosis of cranial bones and malformations of metaphyseal long bones. Congenital malformation ANKH [HSA:56172] [KO:K22734]
H01236 Familial articular chondrocalcinosis ... familial forms have been linked to human chromosomes 8 (CCAL1) or 5p (CCAL2). It has been suggested that mutations in the ANKH gene, which is located on the chromosome 5p, are one cause of chondrocalcinosis. Musculoskeletal disease ANKH [HSA:56172] [KO:K22734]
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