Additional Disease Briefs

autosomal dominant hypophosphatemic rickets

Also known as: ADHR, autosomal dominant hereditary hypophosphatemic rickets, autosomal dominant hypophosphatemia, autosomal dominant hypophosphatemic rickets, hereditary hypophosphatemic rickets, autosomal dominant, hypophosphatemia, autosomal dominant, hypophosphatemic rickets, autosomal dominant, vitamin D-resistant rickets, autosomal dominant

autosomal dominant intermediate Charcot-Marie-Tooth disease

Also known as: CMTDI, autosomal dominant intermediate Charcot-Marie-Tooth, autosomal dominant intermediate Charcot-Marie-Tooth disease, intermediate Charcot-Marie-Tooth disease, autosomal dominant

autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain

autosomal dominant Kenny-Caffey syndrome

Also known as: KCS2, Kenny syndrome, Kenny-Caffey syndrome type 2, Kenny-Caffey syndrome, autosomal dominant, Kenny-Caffey syndrome, type 2, dwarfism, cortical thickening of tubular bones and transient hypocalcemia, dwarfism, cortical thickening of tubular bones, and transient hypocalcemia

autosomal dominant keratitis

Also known as: dominantly inherited keratitis, hereditary keratitis, keratitis, autosomal dominant, keratitis, hereditary

autosomal dominant keratitis-ichthyosis-hearing loss syndrome

Also known as: KID syndrome, autosomal dominant, autosomal dominant KID syndrome, autosomal dominant keratitis-ichthyosis-deafness syndrome, keratitis-ichthyosis -deafness syndrome, keratitis-ichthyosis-deafness syndrome, autosomal dominant

autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Also known as: DNAJB6 autosomal dominant limb-girdle muscular dystrophy, LGMD1D, LGMD1D (DNAJB6), LGMD1E, LGMD1E (Bushby and Beckmann, 2003), autosomal dominant limb-girdle muscular dystrophy caused by mutation in DNAJB6, autosomal dominant limb-girdle muscular dystrophy type 1D, autosomal dominant limb-girdle muscular dystrophy type 1E, limb-girdle muscular dystrophy type 1D, muscular dystrophy limb-girdle type 1D, muscular dystrophy limb-girdle type 1E, muscular dystrophy, limb-girdle, autosomal dominant 1, muscular dystrophy, limb-girdle, type 1D, muscular dystrophy, limb-girdle, type 1D, formerly, muscular dystrophy, limb-girdle, type 1E

autosomal dominant limb-girdle muscular dystrophy type 1F

Also known as: LGMD1F, limb-girdle muscular dystrophy type 1F, muscular dystrophy limb-girdle type 1F, muscular dystrophy, limb-girdle, autosomal dominant 2, muscular dystrophy, limb-girdle, type 1F

autosomal dominant limb-girdle muscular dystrophy type 1G

Also known as: HNRNPDL autosomal dominant limb-girdle muscular dystrophy, LGMD1G, autosomal dominant limb-girdle muscular dystrophy caused by mutation in HNRNPDL, limb-girdle muscular dystrophy type 1G, limb-girdle muscular dystrophy, type 1G, muscular dystrophy limb-girdle type 1G, muscular dystrophy, limb-girdle, autosomal dominant 3