| 疾病名称 |
别名 |
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| Short Stature, Microcephaly, And Endocrine Dysfunction |
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| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
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| Isolated Growth Hormone Deficiency, Type Ia |
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Ighd Ia
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Primordial Dwarfism
|
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Isolated Growth Hormone Deficiency Type Ia
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Sexual Ateleiotic Dwarfism
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Pituitary Dwarfism I
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IGHD1A
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Illig-Type Growth Hormone Deficiency
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Growth Hormone Deficiency, Isolated, Type Ia
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Congenital Ighd Type Ia
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Congenital Isolated Gh Deficiency Type Ia
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Congenital Isolated Growth Hormone Deficiency Type Ia
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Pituitary Dwarfism 1
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Growth Hormone Deficiency, Isolated, Autosomal Recessive
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Autosomal Recessive Isolated Growth Hormone Deficiency
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Isolated Growth Hormone Deficiency Type 1a
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Congenital Ighd
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Congenital Isolated Gh Deficiency
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Congenital Isolated Growth Hormone Deficiency
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Growth Hormone Deficiency, Isolated Autosomal Recessive
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Illig Type Growth Hormone Deficiency
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Non-Acquired Isolated Growth Hormone Deficiency
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Growth Hormone Deficiency, Isolated, 1a
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Growth Hormone Deficiency Isolated Autosomal Recessive
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Dwarfism, Primordial
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Dwarfism
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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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| 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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| 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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| 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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| 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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| Multinodular Goiter |
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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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| 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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| Charcot-Marie-Tooth Disease, Axonal, Type 2b2 |
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Charcot-Marie-Tooth Disease Type 2b2
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CMT2B2
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Arcmt2b
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Charcot-Marie-Tooth Disease, Type 2b2
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Ar-Cmt2b2
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Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b2
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Autosomal Recessive Axonal Cmt4c3
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Charcot-Marie-Tooth Disease Neuronal Type 2b2
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Charcot-Marie-Tooth Neuropathy Type 2b2
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Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b2
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Charcot-Marie-Tooth Disease, Neuronal, Type 2b2
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Charcot-Marie-Tooth Neuropathy, Type 2b2
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Charcot-Marie-Tooth Disease 2b2
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Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B2
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Charcot-Marie-Tooth Disease Axonal Type 2b2
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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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| 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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| 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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| 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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| Cockayne Syndrome A |
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Cockayne Syndrome Type 1
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Cockayne Syndrome, Type A
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Cockayne Syndrome Type I
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CSA
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Cockayne Syndrome Classic Form
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Cockayne Syndrome Classical
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Cockayne Syndrome Type A
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Ckn1
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| Trichothiodystrophy |
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Ttd
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Amish Brittle Hair Syndrome
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Bids Syndrome
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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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| Autism Spectrum Disorder |
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Asd
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Autism Spectrum Disorders
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Autistic Continuum
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Pervasive Developmental Disorder
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Pervasive Development Disorder
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Autistic Behavior
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Autistic Disorder
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Autistic
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Autistic Disorder Of Childhood Onset
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Infantile Autism
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Childhood Autism
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Kanner Syndrome
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Pervasive Developmental Delay Nos
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Pervasive Developmental Disorder, Not Otherwise Specified
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| Breast Cancer |
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Breast Carcinoma
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Male Breast Cancer
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Breast Cancer, Familial
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Malignant Neoplasm Of Breast
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Breast Cancer, Susceptibility To
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Breast Cancer, Early-Onset
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Malignant Tumor Of Breast
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Carcinoma Of Male Breast
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Breast Cancer, Invasive Ductal
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Breast Cancer, Protection Against
|
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Breast Cancer, Somatic
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Breast Cancer, Male
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Breast Cancer, Lobular, Somatic
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Breast Tumor
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Mammary Cancer
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Mammary Tumor
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Malignant Neoplasm Of Male Breast
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Mammary Carcinoma
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Male Breast Carcinoma
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Familial Cancer Of Breast
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Invasive Ductal Breast Carcinoma
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Breast Cancer Susceptibility
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Breast Cancer, Male, Susceptibility To
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Breast Cancer, Early-Onset, Susceptibility To
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Malignant Tumor Of The Breast
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Mammary Neoplasm
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Primary Breast Cancer
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Neoplasm Of Male Breast
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Carcinoma Of Breast
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Breast Cancer In Men
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Familial Breast Cancer
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Cancer Of Breast
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BC
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Breast Cancer Familial
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Breast Cancer Familial Male
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Breast Cancer, Familial Male
|
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Breast Male Carcinoma
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Breast Neoplasms
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Breast Neoplasms, Male
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Mammary Tumors
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Mammary Carcinomas
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Cancer, Breast
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Cancer, Breast, Susceptibility
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Invasive Breast Ductal Carcinoma
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Breast Neoplasm
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Susceptibility To Breast Cancer
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Mammary Neoplasms
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Animal Mammary Neoplasms
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Primary Malignant Neoplasm Of Breast
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Infiltrating Ductal Carcinoma Of Breast
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Infiltrating Duct Carcinoma Of Unspecified Site
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Infiltrating Ductular Carcinoma Of Unspecified Site
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Invasive Breast Carcinoma Of No Special Type
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Microinvasive Carcinoma Of Breast
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Carcinoma With Apocrine Differentiation
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| Hereditary Breast Ovarian Cancer Syndrome |
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Hereditary Breast And Ovarian Cancer Syndrome
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Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer
|
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Breast And/Or Ovarian Cancer
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Breast And Ovarian Cancer Syndrome
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Hboc Syndrome
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Hereditary Breast And Ovarian Cancer
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Brca1- Brca2-Associated Hboc
|
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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
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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
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Medullary Hypoplasia
|
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Red Blood Cells Hypoplastic Anaemia
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Panmyelophthisis
|
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Panhemocytopenia
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Refractive Hypoproliferative Anaemia
|
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Toxic Anaemia
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Toxic Aplastic Anaemia
|
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Aplastic Anaemia Due To Toxic Cause
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Idiopathic Aplastic Anaemia Nos
|
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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
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FANCA
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Fa
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Fanconi Panmyelopathy
|
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Fanconi'S Anemia
|
Fanconi Anaemia
|
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Fanconi'S Anaemia
|
Fanconi Hypoplastic Anemia
|
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Estren-Dameshek Variant Of Fanconi Anemia
|
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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