| 疾病名称 |
别名 |
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| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Severe Combined Immunodeficiency, Athabascan Type
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Severe Combined Immunodeficiency Due To Dclre1c Deficiency
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Rs-Scid
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Scid, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, With Sensitivity To Ionizing Radiation
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Scid Due To Artemis Deficiency
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Scid Due To Dclre1c Deficiency
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Scid, Athabascan Type
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Scid, Athabaskan Type
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Severe Combined Immunodeficiency Due To Artemis Deficiency
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Severe Combined Immunodeficiency, Athabaskan Type
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SCIDA
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Severe Combined Immunodeficiency, Athabascan-Type
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Artemis Deficiency
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Severe Combined Immunodeficiency Athabaskan Type
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Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/B-Cell-Negative/Nk-Cell-Positive With Sensitivity To Ionizing Radiation
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RSSCID
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Athabascan Scid
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Immunodeficiency, Severe Combined, Athabascan Type
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Severe Combined Immunodeficiency, Athabaskan-Type
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| Omenn Syndrome |
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Histiocytic Medullary Reticulosis
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Severe Combined Immunodeficiency With Hypereosinophilia
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Combined Immunodeficiency With Hypereosinophilia
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Reticuloendotheliosis, Familial, With Eosinophilia
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Reticuloendotheliosis Familial With Eosinophilia
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Familial Reticuloendotheliosis
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Omenn'S Syndrome
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OS
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Malignant Histiocytosis
|
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| Severe Combined Immunodeficiency |
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Scid
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Severe Combined Immunodeficiency Disease
|
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Combined T And B Cell Inborn Immunodeficiency
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Immunodeficiency, Severe Combined
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Scid - [Severe Combined Immunodeficiencies]
|
|
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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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| Ataxia-Telangiectasia |
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Ataxia Telangiectasia
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Louis-Bar Syndrome
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AT
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At1
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Ataxia-Telangiectasia Syndrome
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Ataxia - Telangiectasia Variant
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Boder-Sedgwick Syndrome
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Louis Bar Syndrome
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Cerebello-Oculocutaneous Telangiectasia
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Immunodeficiency With Ataxia Telangiectasia
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A-T
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Ataxia Telangiectasia Syndrome
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Atm
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Telangiectasia, Cerebello-Oculocutaneous
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Ataxia-Telangiectasia Variant
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| Nijmegen Breakage Syndrome |
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Berlin Breakage Syndrome
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NBS
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Microcephaly, Normal Intelligence And Immunodeficiency
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Ataxia-Telangiectasia Variant
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Ataxia-Telangiectasia Variant V1
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Seemanova Syndrome Ii
|
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Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome
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Seemanova Syndrome Type 2
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At-V1
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Microcephaly With Normal Intelligence, Immunodeficiency, And Lymphoreticular Malignancies
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Nonsyndromal Microcephaly, Autosomal Recessive, With Normal Intelligence
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Immunodeficiency, Microcephaly, And Chromosomal Instability
|
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Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome
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Microcephaly Immunodeficiency Lymphoreticuloma
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Microcephaly With Normal Intelligence Immunodeficiency And Lymphoreticular Malignancies
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Nonsyndromal Microcephaly Autosomal Recessive With Normal Intelligence
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Seemanova Syndrome 2
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Ataxia-Telangiectasia Variant 1
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Seemanova Syndrome
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At V1
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Ataxia-Telangiectasia, Variant 1
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Microcephaly-Immunodeficiency-Lymphoid Malignancy Syndrome
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V-At
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Ataxia Telangiectasia Variant V1
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| Aneurysm, Intracranial Berry, 12 |
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ANIB12
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Intracranial Berry Aneurysm 12
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| Cd40 Ligand Deficiency |
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X-Linked Hyper Igm Syndrome
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Hyperimmunoglobulin M Syndrome
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Higm1
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Hyper-Igm Syndrome Type 1
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X-Linked Hyper-Igm Syndrome
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Xhigm
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Higmx-1
|
X-Linked Hyper-Igm Immunodeficiency
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Hyper-Igm Syndrome 1
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Immunodeficiency With Hyper-Igm, Type 1
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Hyper-Igm Syndrome Due To Cd40 Ligand Deficiency
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Hyper-Igm Syndrome Due To Cd40l Deficiency
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Hyper-Igm Immunodeficiency Syndrome
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Hyper-Igm Immunodeficiency Syndrome, Type 1
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|
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| Reticular Dysgenesis |
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Severe Combined Immunodeficiency With Leukopenia
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De Vaal Disease
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Congenital Aleukia
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Aleukocytosis
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Hematopoietic Hypoplasia, Generalized
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Reticular Dysgenesia
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Devaal Disease
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Rd
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Ak2 Deficiency
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Congenital Aleukocytosis
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Generalized Hematopoietic Hypoplasia
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Scid With Leukopenia
|
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RDYS
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| Lig4 Syndrome |
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Dna Ligase Iv Deficiency
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Ligase 4 Syndrome
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LIG4S
|
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| Purine Nucleoside Phosphorylase Deficiency |
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Purine-Nucleoside Phosphorylase Deficiency
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Pnp Deficiency
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Nucleoside Phosphorylase Deficiency
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Immunodeficiency Due To Purine Nucleoside Phosphorylase Deficiency
|
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Deficiency Of Inosine Phosphorylase
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Pnpase Deficiency
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PNPD
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| Ecthyma |
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| Bare Lymphocyte Syndrome, Type Ii |
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Mhc Class Ii Deficiency
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Bare Lymphocyte Syndrome
|
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Major Histocompatibility Complex Class Ii Deficiency
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Bare Lymphocyte Syndrome 2
|
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Bare Lymphocyte Syndrome Type 2
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Severe Combined Immunodeficiency, Hla Class Ii-Negative
|
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Bare Lymphocyte Syndrome, Type Ii, Complementation Group C
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Bare Lymphocyte Syndrome, Type Ii, Complementation Group D
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Bare Lymphocyte Syndrome Type Ii
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Scid, Hla Class Ii-Negative
|
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Bare Lymphocyte Syndrome, Type Ii, Complementation Group A
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Bare Lymphocyte Syndrome, Type Ii, Complementation Group B
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Scid Due To Absent Class Ii Hla Antigens
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Hla Class 1 Deficiency
|
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Scid, Hla Class 2-Negative
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Bls Type Ii
|
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Bare Lymphocyte Syndrome Type 2, Complementation Group A
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Bare Lymphocyte Syndrome Type 2, Complementation Group E
|
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Severe Combined Immunodeficiency
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Bls, Type Ii
|
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Bls
|
Bare Lymphocyte Syndrome, Type Ii, Complementation Group E
|
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Blsii
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Bls Type 1
|
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Bls 2
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Scid Due To Absence Of Class Ii Hla Antigens
|
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Severe Combined Immunodeficiency Due To Absent Class Ii Human Leukocyte Antigens
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Immunodeficiency By Defective Expression Of Mhc Class Ii
|
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BLS2
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Bare Lymphocyte Syndrome Type Ii Complementation Group A
|
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Bare Lymphocyte Syndrome Type Ii Complementation Group B
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Bare Lymphocyte Syndrome Type Ii Complementation Group C
|
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Bare Lymphocyte Syndrome Type Ii Complementation Group D
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Bare Lymphocyte Syndrome Type Ii Complementation Group E
|
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Bls Ii
|
Hereditary Mhc Class Ii Deficiency
|
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Hla Class Ii Deficient Combined Immunodeficiency
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Mhc-Ii Deficiency
|
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Scid Hla Class Ii-Negative
|
Severe Combined Immunodeficiency Hla Class Ii-Negative
|
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Bl-2
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Immunodeficiency By Defective Expression Of Hla Class 2
|
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Hla Class 2-Negative Severe Combined Immunodeficiency
|
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| Neonatal Leukemia |
|
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| Immune Deficiency Disease |
|
Immunodeficiency
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Primary Immunodeficiency
|
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Primary Immunodeficiency Disease
|
Immunologic Deficiency Syndromes
|
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Hypoimmunity
|
Immune Deficiency Disorder
|
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Immunodeficiency Syndrome
|
Immune Disorder
|
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Primary Immune Deficiency Disorder
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Immune System Diseases
|
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Human Immunodeficiency Virus Infection
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Hiv - [Human Immunodeficiency Virus Infection]
|
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Hiv Positive Nos
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Hiv Disease
|
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Acquired Immune Deficiency Syndrome-Related Complex
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Aids-Like Syndrome
|
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Aids-Related Complex Nos
|
Arc - [Aids-Related Complex]
|
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Immunodeficiency Due To Human Immunodeficiency Virus Infection
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Unspecified Human Immunodeficiency Virus Disease
|
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Hiv Disease Nos
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Human Immunodeficiency Virus Positive Nos
|
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Hiv Nos
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Deficiency Of Complement Initial Pathway
|
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Deficiency Of Complement Terminal Pathway
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Cfdd - [Complement Factor D Deficiency]
|
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Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency
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Nonfamilial Hypogammaglobulinaemia
|
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Common Variable Immune Deficiency
|
Nonfamilial Agammaglobulinaemia
|
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Common Variable Agammaglobulinaemia
|
Agammaglobulinaemia Nos
|
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Agammaglobulinaemia Antibody Deficiency Syndrome
|
Hypogammaglobulinaemia Antibody Deficiency Syndrome
|
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Acquired Agammaglobulinaemia Nos
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Hypogammaglobulinaemia Nos
|
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Hyper Igm
|
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| Epidermodysplasia Verruciformis 1 |
|
Epidermodysplasia Verruciformis
|
Epidermodysplasia Verruciformis, Susceptibility To, 1
|
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Lutz-Lewandowsky Epidermodysplasia Verruciformis
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EV1
|
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Lewandowsky-Lutz Syndrome
|
Ev
|
|
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| Fanconi Anemia, Complementation Group A |
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Fanconi Anemia
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Fanconi Pancytopenia
|
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Fanconi Anemia Complementation Group A
|
FANCA
|
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Fa
|
Fanconi Panmyelopathy
|
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Fanconi'S Anemia
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Fanconi Anaemia
|
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Fanconi'S Anaemia
|
Fanconi Hypoplastic Anemia
|
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Estren-Dameshek Variant Of Fanconi Anemia
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Estren-Dameshek Variant Of Fanconi Pancytopenia
|
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Fanconi Anemia Estren-Dameshek Variant
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Fanconis Anemia
|
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| Dubowitz Syndrome |
|
Dubowitz'S Syndrome
|
Dwarfism-Eczema-Peculiar Facies Syndrome
|
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Intrauterine Growth Restriction, Short Stature, Microcephaly, Mild Intellectual Disability With Behavior Problems, Eczema, And Unusual And Distinctive Faci
|
|
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| Microcephaly |
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Microencephaly
|
Microcephalus
|
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Microcephalic
|
Nanocephaly
|
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Congenital Microcephaly
|
Brain Hypoplasia
|
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Brain Nondevelopment
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Cephalic Hypoplasia
|
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Undeveloped Cerebrum
|
Undeveloped Brain
|
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Micrencephalon
|
Micrencephaly
|
|
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| Chromosome 22q11.2 Deletion Syndrome, Distal |
|
22q11.2 Deletion Syndrome
|
Autosomal Dominant Opitz G/Bbb Syndrome
|
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Catch22
|
Cayler Cardiofacial Syndrome
|
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Conotruncal Anomaly Face Syndrome
|
Digeorge Syndrome
|
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Sedlackova Syndrome
|
Shprintzen Syndrome
|
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Velocardiofacial Syndrome
|
22q11.2 Distal Deletion Syndrome
|
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Distal 22q11.2 Microdeletion Syndrome
|
22q11.2ds
|
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Vcfs
|
Velo-Cardio-Facial Syndrome
|
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Distal Chromosome 22q11.2 Deletion Syndrome
|
Chromosome 22q11.2 Deletion Syndrome Distal
|
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Chromosome 22q11.2 Deletion Syndrome
|
Deletion 22q11.2 Syndrome
|
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22q11ds
|
Catch 22
|
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Digeorge Sequence
|
Microdeletion 22q11.2
|
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Monosomy 22q11
|
Takao Syndrome
|
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Distal Del(22)(Q11.2)
|
Distal Monosomy 22q11.2
|
|
Catch 22 Syndrome
|
Chromosome Deletion Syndrome 22q11.2, Distal
|
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