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Entry | Name | Description | Category | Pathway | Gene |
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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] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |