Additional Disease Briefs

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Rare Disease Database Reports Additional Rare Disease Briefs
autosomal recessive omodysplasia

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

autosomal recessive osteopetrosis

Also known as: OPTB, autosomal recessive malignant osteopetrosis, autosomal recessive osteopetrosis, autosomal recessive osteopetrosis (disease), infantile malignant osteopetrosis, malignant osteopetrosis, osteopetrosis (disease), autosomal recessive

autosomal recessive osteopetrosis 1

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

autosomal recessive osteopetrosis 2

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

autosomal recessive osteopetrosis 3

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

autosomal recessive osteopetrosis 4

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

autosomal recessive osteopetrosis 5

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

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

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