Also known as: DFNB98, TSPEAR autosomal recessive nonsyndromic deafness, autosomal recessive deafness 98, autosomal recessive nonsyndromic deafness 98, autosomal recessive nonsyndromic deafness caused by mutation in TSPEAR, autosomal recessive nonsyndromic deafness type 98, autosomal recessive nonsyndromic hearing loss 98, deafness, autosomal recessive 98, deafness, autosomal recessive type 98
Also known as: OMOD1, autosomal recessive omodysplasia, micromelic dysplasia congenita with dislocation of radius, micromelic dysplasia, congenital, with dislocation of radius, micromelic dysplasia-dislocation of radius syndrome, omodysplasia 1, omodysplasia autosomal recessive, omodysplasia generalised form, omodysplasia generalized form, omodysplasia type 1, omodysplasia, autosomal recessive, omodysplasia, generalised form, omodysplasia, generalized form
Also known as: OPA7, TMEM126A-related optic atrophy with or without extraocular features, optic atrophy 7, optic atrophy 7 with or without auditory neuropathy
Also known as: OPTB, autosomal recessive malignant osteopetrosis, autosomal recessive osteopetrosis, autosomal recessive osteopetrosis (disease), infantile malignant osteopetrosis, malignant osteopetrosis, osteopetrosis (disease), autosomal recessive
Also known as: Albers-Schonberg disease, autosomal recessive, OPTB1, TCIRG1 autosomal recessive malignant osteopetrosis, TCIRG1 autosomal recessive osteopetrosis, autosomal recessive Albers-Schonberg disease, autosomal recessive malignant osteopetrosis caused by mutation in TCIRG1, autosomal recessive osteopetrosis 1, autosomal recessive osteopetrosis caused by mutation in TCIRG1, autosomal recessive osteopetrosis type 1, infantile malignant osteopetrosis 1, marble bones autosomal recessive, marble bones, autosomal recessive, osteopetrosis autosomal recessive 1, osteopetrosis infantile malignant 1, osteopetrosis, autosomal recessive 1, osteopetrosis, autosomal recessive type 1, osteopetrosis, infantile malignant 1
Also known as: OPTB2, TNFSF11 autosomal recessive malignant osteopetrosis, TNFSF11 autosomal recessive osteopetrosis, autosomal recessive malignant osteopetrosis caused by mutation in TNFSF11, autosomal recessive osteopetrosis caused by mutation in TNFSF11, autosomal recessive osteopetrosis type 2, mild autosomal recessive form osteopetrosis, osteoclast-poor osteopetrosis, osteopetrosis autosomal recessive 2, osteopetrosis osteoclast-poor, osteopetrosis, autosomal recessive 2, osteopetrosis, autosomal recessive type 2, osteopetrosis, mild autosomal recessive form, osteopetrosis, osteoclast-poor
Also known as: Autosomal Recessive osteopetrosis, type 3, CA2 osteopetrosis (disease), Guibaud Vainsel syndrome, Guibaud-Vainsel syndrome, OPTB3, autosomal recessive osteopetrosis 3 with renal tubular acidosis, autosomal recessive osteopetrosis type 3, carbonic anhydrase 2 deficiency, carbonic anhydrase II deficiency, marble brain disease, mixed RTA, mixed renal tubular acidosis, osteopetrosis (disease) caused by mutation in CA2, osteopetrosis autosomal recessive 3, osteopetrosis with renal tubular acidosis, osteopetrosis, autosomal recessive 3, osteopetrosis, autosomal recessive 3, with renal tubular acidosis, osteopetrosis, autosomal recessive type 3, renal tubular acidosis type 3
Also known as: CLCN7 autosomal recessive malignant osteopetrosis, CLCN7 autosomal recessive osteopetrosis, CLCN7-related osteopetrosis, OPTB4, autosomal recessive malignant osteopetrosis caused by mutation in CLCN7, autosomal recessive osteopetrosis caused by mutation in CLCN7, autosomal recessive osteopetrosis type 4, infantile malignant osteopetrosis 2, osteopetrosis autosomal recessive 4, osteopetrosis infantile malignant 2, osteopetrosis, autosomal recessive 4, osteopetrosis, autosomal recessive type 4, osteopetrosis, infantile malignant 2
Also known as: OPTB5, OSTM1 osteopetrosis (disease), autosomal recessive osteopetrosis 5, autosomal recessive osteopetrosis type 5, infantile malignant osteopetrosis 3, osteopetrosis (disease) caused by mutation in OSTM1, osteopetrosis autosomal recessive 5, osteopetrosis infantile malignant 3, osteopetrosis, autosomal recessive 5, osteopetrosis, autosomal recessive type 5, osteopetrosis, infantile malignant 3
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
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