| 疾病名称 |
别名 |
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| Severe Combined Immunodeficiency With Microcephaly, Growth Retardation, And Sensitivity To Ionizing Radiation |
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Cernunnos-Xlf Deficiency
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Nhej1 Syndrome
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Cernunnos Deficiency
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Scid, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, With Microcephaly, Growth Retardation, And Sensitivity To Ionizing Radiation
|
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Cernunnos Xlfd
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Combined Immunodeficiency-Microcephaly-Growth Retardation-Sensitivity To Ionizing Radiation Syndrome
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Nhej1 Deficiency
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Severe Combined Immunodeficiency Due To Nhej1 Deficiency
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NHEJ1-SCID
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Autosomal Recessive T-Cell-Negative, B Cell-Negative, Nk Cell-Positive, Severe Combined Immunodeficiency With Microcephaly, Growth Retardation And Sensitivity To Ionizing Radiation
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Immunodeficiency, Severe Combined, With Microcephaly, Growth Retardation, And Sensitivity To Ionizing Radiation
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| Chromosome 2q35 Duplication Syndrome |
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Syndactyly
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Syndactyly Type 1
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Sdty1
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Zygodactyly
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Syndactyly, Type I
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Sd1
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Syndactyly, Type 1, With Or Without Craniosynostosis
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Symphalangism
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Non-Syndromic Syndactyly
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Symphalangy
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Webbing Of Digits
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Syndactyly, Type 1
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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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| 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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| 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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| 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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| 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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| Polymicrogyria |
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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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| Werner Syndrome |
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Werner'S Syndrome
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WRN
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Adult Progeria
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Ws
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Adult Premature Ageing Syndrome
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Adult Premature Aging Syndrome
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Werners Syndrome
|
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| Microcephaly |
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Microencephaly
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Microcephalus
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Microcephalic
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Nanocephaly
|
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Congenital Microcephaly
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Brain Hypoplasia
|
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Brain Nondevelopment
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Cephalic Hypoplasia
|
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Undeveloped Cerebrum
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Undeveloped Brain
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Micrencephalon
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Micrencephaly
|
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| Dubowitz Syndrome |
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Dubowitz'S Syndrome
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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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| 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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| Spinocerebellar Ataxia Type 1 With Axonal Neuropathy |
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Scan1
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Spinocerebellar Ataxia With Axonal Neuropathy Type 1
|
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Autosomal Recessive Spinocerebellar Ataxia With Axonal Neuropathy
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Scan1, Tdp1-Related Spinocerebellar Ataxia With Axonal Neuropathy
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Spinocerebellar Ataxia Autosomal Recessive With Axonal Neuropathy
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Spinocerebellar Ataxia With Axonal Neuropathy
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Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy
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Ataxia, Spinocerebellar, Autosomal Recessive With Axonal Neuropathy
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| Seckel Syndrome 1 |
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SCKL1
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Nanocephalic Dwarfism
|
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Microcephalic Primordial Dwarfism I
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Seckel-Type Dwarfism
|
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Bird-Headed Dwarfism
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Sckl
|
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Seckel Syndrome, Type 1
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Seckel Syndrome
|
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| Ectodermal Dysplasia 14, Hair/Tooth Type With Or Without Hypohidrosis |
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ECTD14
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Ectodermal Dysplasia 14
|
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Ectn14
|
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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
|
OS
|
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Malignant Histiocytosis
|
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| Seckel Syndrome |
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Microcephalic Primordial Dwarfism
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Bird-Headed Dwarfism
|
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Harper'S Syndrome
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Virchow-Seckel Dwarfism
|
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Nanocephalic Dwarfism
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Sckl
|
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Seckel-Type Dwarfism
|
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| Autosomal Recessive Cerebellar Ataxia |
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| Bare Lymphocyte Syndrome, Type Ii |
|
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
|
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
|
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
|
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
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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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| Xeroderma Pigmentosum, Variant Type |
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Xeroderma Pigmentosum
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XPV
|
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Xeroderma Pigmentosum Variant Type
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Xeroderma Pigmentosum With Normal Dna Repair Rates
|
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Photosensitivity With Defective Dna Synthesis
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Xp
|
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De Sanctis-Cacchione Syndrome
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Desanctis-Cacchione Syndrome
|
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Xeroderma Pigmentosa
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Xerodermic Idiocy
|
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Xeroderma Pigmentosum Variant
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Xp - [Xeroderma Pigmentosum]
|
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Atrophoderma Pigmentosum
|
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| Trichothiodystrophy |
|
Ttd
|
Amish Brittle Hair Syndrome
|
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Bids Syndrome
|
Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome
|
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Ibids
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Pibids
|
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Trichothiodystrophy Syndromes
|
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| Congenital Nervous System Abnormality |
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Congenital Neurologic Anomaly
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Congenital Nervous System Disorder
|
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| Aplastic Anemia |
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Aplastic Anemia, Susceptibility To
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Anemia Aplastic
|
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Idiopathic Aplastic Anemia
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Secondary Aplastic Anemia
|
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Idiopathic Bone Marrow Failure
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Aplastic Anemia Idiopathic
|
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AA
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Anemia, Aplastic
|
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Aplastic Anemia, Idiopathic
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Erythroid Aplasia
|
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Aa - [Aplastic Anaemia]
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Haematopoietic Aplasia
|
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Aleukia Haemorrhagica
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Anaemia Due To Decreased Red Cell Production
|
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Aplasia Bone Marrow
|
Aplastic Bone Marrow
|
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Hypoplastic Anaemia Nos
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Myeloid Bone Marrow Aplasia
|
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Pancytopenia
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Panhaematopenia
|
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Hypoproliferative Anaemia
|
Medullary Hypoplasia
|
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Red Blood Cells Hypoplastic Anaemia
|
Panmyelophthisis
|
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Panhemocytopenia
|
Refractive Hypoproliferative Anaemia
|
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Toxic Anaemia
|
Toxic Aplastic Anaemia
|
|
Aplastic Anaemia Due To Toxic Cause
|
Idiopathic Aplastic Anaemia Nos
|
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| Fanconi Anemia, Complementation Group A |
|
Fanconi Anemia
|
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
|
Fanconi Anaemia
|
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Fanconi'S Anaemia
|
Fanconi Hypoplastic Anemia
|
|
Estren-Dameshek Variant Of Fanconi Anemia
|
Estren-Dameshek Variant Of Fanconi Pancytopenia
|
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Fanconi Anemia Estren-Dameshek Variant
|
Fanconis Anemia
|
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