Additional Disease Briefs
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
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
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
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
Also known as:
retinitis pigmentosa, pericentral, retinopathy, pericentral pigmentary, autosomal recessive
Also known as:
CD16 deficiency, IMD20, autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity, immunodeficiency 20, immunodeficiency type 20
Also known as:
MCPH, microcephalia vera, microcephaly vera, microcephaly, primary autosomal recessive, microcephaly, primary, autosomal recessive, true microcephaly
Also known as:
arPEO, progressive external ophthalmoplegia, autosomal recessive
Also known as:
AR pRTA, RTA, proximal, autosomal recessive, proximal renal tubular acidosis with ocular abnormalities and intellectual disability, proximal renal tubular acidosis, autosomal recessive, renal tubular acidosis, proximal, with ocular abnormalities, renal tubular acidosis, proximal, with ocular abnormalities and intellectual disability, renal tubular acidosis, proximal, with ocular abnormalities and mental retardation
