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MHC class II deficiency
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DOID_5812 |
[A severe combined immunodeficiency that is characterized by deficiency of MHC class II molecules that causes lack of immune protection against bacteria, viruses, and fungi and thus causes early death in childhood, and has_material_basis_in autosomal recessive inheritance of mutation in the CIITA, RFX5, RFXANK, and RFXAP genes.] |
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meningoencephalitis
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SYMP_0000089 |
[A nervous system symptom that is characterized by an inflammation of the brain and meninges.] |
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lymphopenia
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SYMP_0000086 |
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purine nucleoside phosphorylase deficiency
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DOID_5813 |
[A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder that has_material_basis_in mutation in the PNP gene and characterized mainly by decreased T-cell function.] |
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combined T cell and B cell immunodeficiency
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DOID_628 |
[A primary immunodeficiency disease characterized by impaired T cell-mediated immunity and impaired B cell mediated humoral immunity.] |
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massive hepatic necrosis
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SYMP_0000087 |
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susceptibility to autism 7
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MIM_610676 |
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Lacazia
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NCBITaxon_121739 |
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Onygenales incertae sedis
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NCBITaxon_1593277 |
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spermatogenic failure 11
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DOID_0070180 |
[A spermatogenic failure that is characterized by autosomal dominant inheritance of oligozoospermia and in some cases teratozoospermia and/or moderate asthenozoospermia that has_material_basis_in mutation in the KLHL10 gene on chromosome 17q21.] |
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spermatogenic failure
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DOID_0111910 |
[A male infertility characterized by disruption of the process of sperm development from diploid cells into mature haploid spermatozoa.] |
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Y-linked spermatogenic failure 2
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DOID_0070187 |
[A spermatogenic failure that is characterized by nonobstroctive azoospermia or oligozoospermia that has_material_basis_in interstitial deletions on the Yq11.221 chromosomal region.] |
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Y-linked monogenic disease
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DOID_0050738 |
[A monogenic disease that has_material_basis_in mutations on the Y chromosome.] |
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spermatogenic failure 1
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DOID_0070188 |
[A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatogenic failure resulting from meiotic defects.] |
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cutaneous malignant melanoma 1
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MIM_155600 |
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X-linked spermatogenic failure 2
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DOID_0070185 |
[A spermatogenic failure that is characterized by meiotic arrest of spermatocytes and mixed testicular atrophy that has_material_basis_in X-linked inheritance of mutation in the TEX11 gene on chromosome Xq13.] |
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Y-linked spermatogenic failure 1
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DOID_0070186 |
[A Sertoli cell-only syndrome that has_material_basis_in deletions in the Yq11 chromosomal region.] |
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Sertoli cell-only syndrome
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DOID_0050457 |
[A male infertility disease characterized by male sterility, has_material_basis_in azospermia without abnormal sexual development.] |
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spermatogenic failure 5
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DOID_0070183 |
[A spermatogenic failure that is characterized by autosomal recessive inheritance of large-headed, multiflagellar, polyploid spermatozoa that has_material_basis_in mutation in the AURKC gene on chromosome 19q13.] |
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susceptibility to cutaneous malignant melanoma 2
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MIM_155601 |
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