| 疾病名称 |
别名 |
|
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Combined Immunodeficiency Due To Lrba Deficiency
|
CVID8
|
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Common Variable Immunodeficiency 8
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Common Variable Immunodeficiency-8 With Autoimmunity
|
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Cid Due To Lrba Deficiency
|
Immunodeficiency, Variable, Common, Type 8, With Autoimmunity
|
|
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| Immunodeficiency 8 |
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Severe Combined Immunodeficiency Due To Coro1a Deficiency
|
IMD8
|
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Scid Due To Coro1a Deficiency
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Scid Due To Coronin-1a Deficiency
|
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Severe Combined Immunodeficiency Due To Coronin-1a Deficiency
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Immunodeficiency, Type 8
|
|
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| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
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Colobomatous Microphthalmia-Rhizomelic Dysplasia Syndrome
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MCSKS
|
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Mcops14
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Microphthalmia And/Or Coloboma With Or Without Rhizomelic Skeletal Dysplasia
|
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Microphthalmia, Syndromic 14
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Syndromic Microphthalmia 14
|
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Microphthalmia-Coloboma-Rhizomelic Skeletal Dysplasia
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Microphthalmia, Syndromic, 14
|
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Microphthalmia And/Or Coloboma, With Or Without Rhizomelic Skeletal Dysplasia
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Microphthalmia, Syndromic, Type 14
|
|
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| Thrombocytopenic Purpura, Autoimmune |
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Idiopathic Thrombocytopenic Purpura
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Autoimmune Thrombocytopenic Purpura
|
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Immune Thrombocytopenic Purpura
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Itp
|
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Idiopathic Purpura
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AITP
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Ideopath Thrombocytopenic Pur
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Primary Thrombocytopenic Purpura
|
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Werlhof'S Disease
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Thrombocytopenic Purpura Autoimmune
|
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Purpura Thrombocytopenic Idiopathic
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Purpura, Thrombocytopenic, Idiopathic
|
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Autoimmune Thrombocytopenia
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Thrombocytopenia Due To Platelet Alloimmunization
|
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Idiopathic Thrombocytopenia
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Idiopathic Thrombocytopenia Purpura
|
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Frank'S Essential Thrombocytopenia
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Itp - [Idiopathic Thrombocytopenia Purpura]
|
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Werlhof Disease
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Primary Autoimmune Thrombocytopenic Purpura
|
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Haemorrhagic Purpura
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Essential Thrombocytopenia
|
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Purpura Haemorrhagica
|
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| Common Variable Immunodeficiency |
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Cvid
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Common Variable Agammaglobulinemia
|
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Common Variable Immune Deficiency
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Acquired Hypogammaglobulinemia
|
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Hypogamma-Globulinemia, Acquired
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Idiopathic Immunoglobulin Deficiency
|
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Primary Antibody Deficiency
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Primary Hypogammaglobulinemia
|
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Acquired Agammaglobulinemia
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Sporadic Hypogammaglobulinemia
|
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Common Variable Hypogamma-Globulinemia
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Immunoglobulin Deficiency, Late-Onset
|
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Common Variable Hypogammaglobulinemia
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Immunodeficiency, Common Variable
|
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| Evans' Syndrome |
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Evans Syndrome
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Autoimmune Hemolytic Anemia And Autoimmune Thrombocytopenia
|
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Evan Syndrome
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Immune Pancytopenia
|
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Evan'S Syndrome
|
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| Autoimmune Lymphoproliferative Syndrome |
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ALPS
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Canale-Smith Syndrome
|
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Autoimmune Lymphoproliferative Syndrome, Type Ia
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Autoimmune Lymphoproliferative Syndrome, Type Ib
|
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Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant
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Css
|
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Autoimmune Lymphoproliferative Syndrome, Type 1b
|
Autoimmune Lymphoproliferative Syndrome, Type 1a
|
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Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant
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Fas Deficiency
|
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Autoimmune Lymphoproliferative Syndrome 1a
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ALPS1A
|
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Autoimmune Lymphoproliferative Syndrome Type Ia
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Autoimmune Lymphoproliferative Syndrome 1b
|
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ALPS1B
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Autoimmune Lymphoproliferative Syndrome Type Ib
|
|
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| Autoimmune Lymphoproliferative Syndrome, Type Iii |
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ALPS3
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Autoimmune Lymphoproliferative Syndrome Type 3
|
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Immunodeficiency, Common Variable, 9, Formerly
|
Cvid9, Formerly
|
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Autoimmune Lymphoproliferative Syndrome Type Iii
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Autoimmune Lymphoproliferative Syndrome 3
|
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Cvid9
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Immunodeficiency, Common Variable, 9
|
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Type 3 Autoimmune Lymphoproliferative Syndrome
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Immunodeficiency, Variable, Common, Type 9
|
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| Immunodeficiency 14 |
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Activated Pi3k-Delta Syndrome
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Apds
|
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Pasli Disease
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Imd14
|
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Senescent T-Cells-Lymphadenopathy-Immunodeficiency Syndrome Due To P110delta-Activating Mutation
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P110 Delta-Activating Mutation Causing Senescent T Cells, Lymphadenopathy, And Immunodeficiency
|
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| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
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IPEX
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X-Linked Autoimmunity-Allergic Dysregulation Syndrome
|
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Xlaad
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Diarrhea, Polyendocrinopathy, Fatal Infection Syndrome, X-Linked
|
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Ipex Syndrome
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Insulin-Dependent Diabetes Mellitus Secretory Diarrhea Syndrome
|
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Iddm-Secretory Diarrhea Syndrome
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Dmsd
|
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Autoimmunity-Immunodeficiency Syndrome, X-Linked
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Enteropathy, Autoimmune, With Hemolytic Anemia And Polyendocrinopathy
|
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Xpid
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Diabetes Mellitus, Congenital Insulin-Dependent, With Fatal Secretory Diarrhea
|
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Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
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Polyendocrinopathy, Immune Dysfunction, And Diarrhea, X-Linked
|
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Autoimmune Enteropathy Type 1
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Immunodeficiency, Polyendocrinopathy, And Enteropathy, X-Linked
|
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Immunodeficiency, Polyendocrinopathy, And Enteropathy, X-Linked, Formerly
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Immunodeficiency, Polyendocrinopathy, Enteropathy X-Linked Syndrome
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Immunodysregulation, Polyendocrinopathy And Enteropathy X-Linked
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Autoimmunity-Immunodeficiency Syndrome X-Linked
|
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Iddm Secretory Diarrhea Syndrome
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Polyendocrinopathy, Immune Dysfunction And Diarrhea X-Linked
|
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Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome
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Immunodeficiency Polyendocrinopathy, Enteropathy, X-Linked Syndrome
|
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X-Linked Autoimmunity-Immunodeficiency Syndrome
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Immunodeficiency, Polyendocrinopathy, And Enteropathy X-Linked Syndrome
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X-Linked Syndrome Of Polyendocrinopathy, Immune Dysfunction, And Diarrhea
|
|
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| Neutropenia, Severe Congenital, X-Linked |
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X-Linked Severe Congenital Neutropenia
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XLN
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SCNX
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Severe Congenital Neutropenia X-Linked
|
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Neutropenia, Congenital, Severe, X-Linked
|
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| Combined Immunodeficiency |
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Combined T Cell And B Cell Immunodeficiency
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Congenital Combined Immunodeficiency
|
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Syndrome With Combined Immunodeficiency
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Combined T And B Cell Immunodeficiency
|
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Combined Immunity Deficiency
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Combined Immunodeficiency Syndrome
|
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Combined T-Cell And B-Cell Immunodeficiency
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Lymphopenic Agammaglobulinaemia
|
|
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| Immunodeficiency 60 |
|
Bach2-Related Immunodeficiency And Autoimmunity
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Brida
|
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Imd60
|
|
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| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Cd25 Deficiency
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Immunodeficiency Due To Cd25 Deficiency
|
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IMD41
|
Interleukin 2 Receptor, Alpha, Deficiency Of
|
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Il2ra Deficiency
|
Immunodeficiency 41
|
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Interleukin-2 Receptor Alpha Chain Deficiency
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Interleukin 2 Receptor Alpha Deficiency
|
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Interleukin-2 Receptor, Alpha Chain, Deficiency Of
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Immunodeficiency, Type 41 With Lymphoproliferation And Autoimmunity
|
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| Esophageal Tuberculosis |
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Tuberculosis Of Esophagus
|
|
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| Microcephaly And Chorioretinopathy 2 |
|
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| Primary Thrombocytopenia |
|
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| Lymphoid Interstitial Pneumonia |
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Lymphocytic Interstitial Pneumonia
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Lip Disease
|
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Lip Diseases
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LIP
|
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Disease Of Lips
|
|
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| Lymphoproliferative Syndrome |
|
Lymphoproliferative Disorder
|
Lymphoproliferative Disorders
|
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Lymphoproliferative Disorders, Susceptibility To
|
|
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| Inflammatory Bowel Disease |
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Inflammatory Bowel Diseases
|
Bowel Disease, Inflammatory
|
|
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| B Cell Deficiency |
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Immunoglobulin Heavy Chain Deficiency
|
B Cell Deficiencies
|
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Immunoglobulin Heavy Chain Deletion
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Humoral Immune Defect
|
|
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| Immunodeficiency 58 |
|
IMD58
|
Severe Combined Immunodeficiency Due To Carmil2 Deficiency
|
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Combined Immunodeficiency Due To Carmil2 Deficiency
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Combined Immunodeficiency Due To Rltpr Deficiency
|
|
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| Anemia, Autoimmune Hemolytic |
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Autoimmune Hemolytic Anemia
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Idiopathic Autoimmune Hemolytic Anemia
|
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Immuno-Hemolytic Anemia
|
Anemia, Hemolytic, Autoimmune
|
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Autoimmune Haemolytic Anaemia
|
Autoimmune Hemolytic Anaemia
|
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Acquired Autoimmune Hemolytic Anemia
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Anemia Hemolytic Autoimmune
|
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Familial Auto-Immune Hemolytic Anemia
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Aha
|
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Aiha
|
|
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| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
RALD
|
Autoimmune Lymphoproliferative Syndrome Type 4
|
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Alps4
|
Autoimmune Lymphoproliferative Syndrome, Type Iv
|
|
Ras-Associated Autoimmune Leukoproliferative Disease
|
Ras-Associated Autoimmune Lymphoproliferative Syndrome Type Iv, Somatic
|
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Alps Type 4
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Alps Type Iv
|
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Autoimmune Lymphoproliferative Syndrome Type Iv
|
Autoimmune Lymphoproliferative Syndrome 4
|
|
|
| Aneurysm, Intracranial Berry, 12 |
|
ANIB12
|
Intracranial Berry Aneurysm 12
|
|
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| Combined Oxidative Phosphorylation Deficiency 5 |
|
COXPD5
|
Hypotonia With Lactic Acidemia And Hyperammonemia
|
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Combined Oxidative Phosphorylation Defect Type 5
|
Combined Oxidative Phosphorylation Deficiency, Type 5
|
|
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| Autoimmune Disease Of Blood |
|
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| Hemolytic Anemia |
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Anemia, Hemolytic
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Anemia Hemolytic
|
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Anaemia Due To Other Disorders Of Glutathione Metabolism
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Chronic Non Spherocytic Anaemia
|
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G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia
|
Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency
|
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Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia
|
Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia
|
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Favism Anaemia
|
Haemolytic Anaemia Due Tog6pd Deficiency
|
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Favism
|
Pentose Phosphate Pathway Disorder Anaemia
|
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Anaemia Due To Pentose Phosphate Pathway Defect
|
|
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| Transient Hypogammaglobulinemia |
|
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| Transient Hypogammaglobulinemia Of Infancy |
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Immunoglobulin Maturational Delay
|
Thi - [Transient Hypogammaglobulinaemia Of Infancy]
|
|
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| Lymphoproliferative Syndrome, X-Linked, 2 |
|
XLP2
|
Xiap Deficiency
|
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X-Linked Lymphoproliferative Syndrome 2
|
X-Linked Lymphoproliferative Disease Due To Xiap Deficiency
|
|
Xiap-Related Lymphoproliferative Disease, X-Linked
|
X-Linked Lymphoproliferative Syndrome Type 2
|
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Xiap Deficiency Syndrome
|
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| Autoimmune Polyendocrine Syndrome |
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Autoimmune Polyendocrinopathy
|
Autoimmune Polyglandular Failure
|
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Autoimmune Polyglandular Syndrome
|
Polyendocrinopathies, Autoimmune
|
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Lloyd'S Syndrome
|
Aps
|
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Polyendocrinopathies Autoimmune
|
Polyendocrine Autoimmunity Syndrome
|
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Lloyd Syndrome
|
Polyglandular Autoimmune Deficiency
|
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Progressive Pluriglandular Insufficiency
|
Pluriglandular Autoimmune Atrophy
|
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Pluriglandular Autoimmune Syndrome
|
Thyroid-Adrenocortical Insufficiency Syndrome
|
|
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| Selective Immunoglobulin Deficiency Disease |
|
|
| Agammaglobulinemia, X-Linked |
|
X-Linked Agammaglobulinemia
|
XLA
|
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Bruton Type Agammaglobulinemia
|
Bruton'S Agammaglobulinemia
|
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Bruton-Type Agammaglobulinemia
|
Agmx1
|
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Imd1
|
Agammaglobulinemia, X-Linked 1
|
|
Btk-Deficiency
|
Agammaglobulinemia
|
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Hypogammaglobulinemia
|
Agammaglobulinemia, X-Linked, Type 1
|
|
Immunodeficiency 1
|
Bruton Agammaglobulinemia Tyrosine Kinase Deficiency
|
|
Bruton Disease
|
Bruton'S Agammaglobulinaemia
|
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Bruton'S Sex-Linked Agammaglobulinemia
|
Bruton'S Type Agammaglobulinemia
|
|
Btk Deficiency
|
Agammaglobulinemia, Btk
|
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Agammaglobulinemia, Bruton Tyrosine Kinase
|
Congenital Agammaglobulinemia
|
|
Immunodeficiency Type 1
|
X-Linked Agammaglobulinemia Type 1
|
|
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| Immunoglobulin Alpha Deficiency |
|
Iga Deficiency
|
Gamma-A-Globulin Deficiency
|
|
Immunoglobulin A Deficiency
|
|
|
| Hypersensitivity Reaction Type Iv Disease |
|
Immunoproliferative Disorders
|
Immunoproliferative Disease
|
|
|
| Dysgammaglobulinemia |
|
|
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Familial Intestinal Polyatresia Syndrome
|
Fipa
|
|
Gastrointestinal Defects And Immunodeficiency Syndrome
|
Multiple Gastrointestinal Atresias
|
|
Familial Isolated Pituitary Adenoma
|
Intestinal Atresia, Multiple
|
|
Multiple Intestinal Atresia
|
GIDID1
|
|
Multiple Intestinal Atresia And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency
|
Minat
|
|
Gidid
|
Meddra:10028210
|
|
Familial Isolated Pituitary Adenoma Syndrome
|
Intestinal Atresia Multiple
|
|
Combined Immunodeficiency-Enteropathy Spectrum
|
Cid-Mia/Early-Onset Ibd
|
|
Intestinal Atresia, Multiple And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency
|
Mia
|
|
Gastrointestinal Defect And Immunodeficiency Syndrome
|
Pituitary Adenoma Predisposition
|
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Pituitary Adenoma, Familial Isolated
|
|
|
| Omenn Syndrome |
|
Histiocytic Medullary Reticulosis
|
Severe Combined Immunodeficiency With Hypereosinophilia
|
|
Combined Immunodeficiency With Hypereosinophilia
|
Reticuloendotheliosis, Familial, With Eosinophilia
|
|
Reticuloendotheliosis Familial With Eosinophilia
|
Familial Reticuloendotheliosis
|
|
Omenn'S Syndrome
|
OS
|
|
Malignant Histiocytosis
|
|
|
| Bare Lymphocyte Syndrome, Type Ii |
|
Mhc Class Ii Deficiency
|
Bare Lymphocyte Syndrome
|
|
Major Histocompatibility Complex Class Ii Deficiency
|
Bare Lymphocyte Syndrome 2
|
|
Bare Lymphocyte Syndrome Type 2
|
Severe Combined Immunodeficiency, Hla Class Ii-Negative
|
|
Bare Lymphocyte Syndrome, Type Ii, Complementation Group C
|
Bare Lymphocyte Syndrome, Type Ii, Complementation Group D
|
|
Bare Lymphocyte Syndrome Type Ii
|
Scid, Hla Class Ii-Negative
|
|
Bare Lymphocyte Syndrome, Type Ii, Complementation Group A
|
Bare Lymphocyte Syndrome, Type Ii, Complementation Group B
|
|
Scid Due To Absent Class Ii Hla Antigens
|
Hla Class 1 Deficiency
|
|
Scid, Hla Class 2-Negative
|
Bls Type Ii
|
|
Bare Lymphocyte Syndrome Type 2, Complementation Group A
|
Bare Lymphocyte Syndrome Type 2, Complementation Group E
|
|
Severe Combined Immunodeficiency
|
Bls, Type Ii
|
|
Bls
|
Bare Lymphocyte Syndrome, Type Ii, Complementation Group E
|
|
Blsii
|
Bls Type 1
|
|
Bls 2
|
Scid Due To Absence Of Class Ii Hla Antigens
|
|
Severe Combined Immunodeficiency Due To Absent Class Ii Human Leukocyte Antigens
|
Immunodeficiency By Defective Expression Of Mhc Class Ii
|
|
BLS2
|
Bare Lymphocyte Syndrome Type Ii Complementation Group A
|
|
Bare Lymphocyte Syndrome Type Ii Complementation Group B
|
Bare Lymphocyte Syndrome Type Ii Complementation Group C
|
|
Bare Lymphocyte Syndrome Type Ii Complementation Group D
|
Bare Lymphocyte Syndrome Type Ii Complementation Group E
|
|
Bls Ii
|
Hereditary Mhc Class Ii Deficiency
|
|
Hla Class Ii Deficient Combined Immunodeficiency
|
Mhc-Ii Deficiency
|
|
Scid Hla Class Ii-Negative
|
Severe Combined Immunodeficiency Hla Class Ii-Negative
|
|
Bl-2
|
Immunodeficiency By Defective Expression Of Hla Class 2
|
|
Hla Class 2-Negative Severe Combined Immunodeficiency
|
|
|
| Chronic Mucocutaneous Candidiasis |
|
Candidiasis, Chronic Mucocutaneous
|
Cmc
|
|
Candidiasis Chronic Mucocutaneous
|
|
|
| Chronic Granulomatous Disease |
|
Cgd
|
Granulomatous Disease, Chronic
|
|
Autosomal Recessive Chronic Granulomatous Disease
|
X-Linked Chronic Granulomatous Disease
|
|
Bridges-Good Syndrome
|
Congenital Dysphagocytosis
|
|
Quie Syndrome
|
Chronic Septic Granulomatosis
|
|
Chronic Granulomatous Disorder
|
Granulomatous Disease Chronic
|
|
Granulomatous Disease, Chronic, X-Linked
|
|
|
| Severe Congenital Neutropenia |
|
Congenital Neutropenia
|
Neutropenia, Severe Congenital
|
|
Congenital Agranulocytosis
|
Infantile Genetic Agranulocytosis
|
|
Kostmann Disease
|
Kostmann'S Agranulocytosis
|
|
Kostmann'S Syndrome
|
Severe Infantile Genetic Neutropenia
|
|
|
| Cone-Rod Dystrophy 2 |
|
Cone-Rod Dystrophy
|
CORD2
|
|
Cone-Rod Retinal Dystrophy
|
Rcrd2
|
|
Cone-Rod Retinal Dystrophy 2
|
Crd2
|
|
Cord
|
Crd
|
|
Retinal Cone-Rod Dystrophy
|
Cone-Rod Retinal Dystrophy-2
|
|
Retinal Cone-Rod Dystrophy 2
|
Tapetoretinal Degeneration
|
|
Cone-Rod Degeneration
|
Cone Rod Dystrophy
|
|
Dystrophy, Cone-Rod
|
Dystrophy, Cone-Rod, Type 2
|
|
Retinitis Pigmentosa
|
Retinitis Pigmentosa 2
|
|
Progressive Cone-Rod Dystrophy
|
|
|
