Additional Disease Briefs

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Rare Disease Database Reports Additional Rare Disease Briefs
autosomal recessive osteopetrosis 6

Also known as: OPTB6, PLEKHM1 osteopetrosis (disease), autosomal recessive intermediate osteopetrosis, autosomal recessive osteopetrosis intermediate form, autosomal recessive osteopetrosis type 6, intermediate osteopetrosis, osteopetrosis (disease) caused by mutation in PLEKHM1, osteopetrosis autosomal recessive 6, osteopetrosis autosomal recessive intermediate form, osteopetrosis, autosomal recessive 6, osteopetrosis, autosomal recessive type 6, osteopetrosis, autosomal recessive, Intermediate form

autosomal recessive osteopetrosis 7

Also known as: OPTB7, TNFRSF11A osteopetrosis (disease), autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia, autosomal recessive osteopetrosis type 7, osteoclast-poor osteopetrosis with hypogammaglobulinemia, osteopetrosis (disease) caused by mutation in TNFRSF11A, osteopetrosis autosomal recessive 7, osteopetrosis osteoclast-poor with hypogammaglobulinemia, osteopetrosis, autosomal recessive 7, osteopetrosis, autosomal recessive type 7, osteopetrosis, osteoclast-poor, with hypogammaglobulinemia, osteopetrosis-hypogammaglobulinemia syndrome

autosomal recessive osteopetrosis 8

Also known as: OPTB8, SNX10 autosomal recessive malignant osteopetrosis, SNX10 autosomal recessive osteopetrosis, autosomal recessive malignant osteopetrosis caused by mutation in SNX10, autosomal recessive osteopetrosis caused by mutation in SNX10, autosomal recessive osteopetrosis type 8, osteopetrosis, autosomal recessive 8, osteopetrosis, autosomal recessive type 8

autosomal recessive palmoplantar keratoderma and congenital alopecia

Also known as: PPK-CA, Wallis type, PPKCA2, Ppkca, Wallis type, autosomal recessive palmoplantar hyperkeratosis and congenital alopecia, cass, cataract, alopecia, sclerodactyly, cataract, alopecia, sclerodactyly syndrome, cataract-alopecia-sclerodactyly syndrome, palmoplantar keratoderma and congenital alopecia 2, palmoplantar keratoderma and congenital alopecia type 2, palmoplantar keratoderma and congenital alopecia, Wallis type

autosomal recessive Parkinson disease 14

Also known as: PARK14, PLA2G6 hereditary late onset Parkinson disease, PLA2G6-related dystonia-parkinsonism, Parkinson disease 14, autosomal recessive, adult-onset dystonia - parkinsonism, autosomal recessive Parkinson disease type 14, autosomal recessive Parkinson's disease 14, dystonia-Parkinsonism Adult-onset, dystonia-Parkinsonism, adult-onset, dystonia-parkinsonism, Paisan-Ruiz type, hereditary late onset Parkinson disease caused by mutation in PLA2G6

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