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obsolete nephrotic syndrome with lesion of mesangiocapillary glomerulonephritis
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DOID_2587 |
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Pasteurellales
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NCBITaxon_135625 |
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obsolete nephrotic syndrome with lesion of persistent glomerulonephritis
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DOID_2588 |
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obsolete nephrotic syndrome with lesion of membranous glomerulonephritis
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DOID_2589 |
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ciliated epithelial cell
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CL_0000067 |
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ciliated cell
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CL_0000064 |
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ependymal cell
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CL_0000065 |
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obsolete infiltrative lung tuberculosis
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DOID_1221 |
[A pulmonary tuberculosis that is characterized by filling of airspaces with fluid, inflammatory exudates (pus, proteins and immunological substances) or cells (malignant cells and red blood cells) in a region of the lung.] |
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autosomal dominant autoinflammation, panniculitis, and dermatosis syndrome
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DOID_0061169 |
[An autoinflammation, panniculitis, and dermatosis syndrome characterized by the onset of autoinflammatory features in infancy, including fever, aseptic skin lesions, panniculitis, and poor wound healing that has_material_basis_in heterozygous dominant-negative mutation in the OTULIN gene on chromosome 5p15.] |
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osteoblast
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CL_0000062 |
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infantile onset multisystem autoimmune disease 2
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DOID_0061161 |
[An infantile onset multisystem autoimmune disease that has_material_basis_in compound heterozygous mutation in the ZAP70 gene on chromosome 2q12.] |
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infantile onset multisystem autoimmune disease
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DOID_0061159 |
[An autoimmune disease characterized by systemic autoimmune manifestations with infantile onset.] |
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infantile onset multisystem autoimmune disease 3
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DOID_0061162 |
[An infantile onset multisystem autoimmune disease characterized by the onset of various systemic autoimmune manifestations in the first months or years of life that has_material_basis_in homozygous mutation in the CBLB gene on chromosome 3q13.] |
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infantile onset multisystem autoimmune disease 4
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DOID_0061163 |
[An infantile onset multisystem autoimmune disease characterized by onset of various autoimmune diseases in early childhood that has_material_basis_in homozygous mutation in the PDCD1 gene on chromosome 2q37.] |
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infantile onset multisystem autoimmune disease 5
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DOID_0061164 |
[An infantile onset multisystem autoimmune disease characterized predominantly by neonatal-onset type 1 diabetes mellitus due to complete insulin deficiency that has_material_basis_in homozygous mutation in the PDL1 gene on chromosome 9p24.] |
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proximal renal tubular acidosis
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DOID_0061165 |
[A renal tubular transport disease characterized by an inability of the distal tubule to generate a sufficiently large hydrogen ion gradient between blood and tubular fluid.] |
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autosomal recessive distal renal tubular acidosis 3 with or without sensorineural hearing loss
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DOID_0061166 |
[A renal tubular transport disease characterized by the failure of the kidney to produce an appropriately acid urine in the presence of systemic metabolic acidosis or after acid loading, due to failure of hydrogen ion secretion or bicarbonate reabsorption in the distal nephron that has_material_basis_in homozygous mutation in the ATP6N1B gene on chromosome 7q34.] |
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autosomal recessive proximal renal tubular acidosis
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DOID_0061167 |
[A renal tubular transport disease characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage.] |
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mitochondrial axonal Charcot-Marie-Tooth disease
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DOID_0061168 |
[A Charcot-Marie-Tooth disease characterized by onset of distal muscle weakness and atrophy mainly affecting the lower limbs and resulting in difficulty walking in the second decade of life, although both earlier and later onset can occur that has_material_basis_in mutation in the MTTV gene, which is encoded by the mitochondrial genome.] |
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tactile epilepsy
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DOID_2550 |
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