| 疾病名称 |
别名 |
|
| Dyskeratosis Congenita, X-Linked |
|
DKCX
|
X-Linked Dyskeratosis Congenita
|
|
Zinsser-Cole-Engman Syndrome
|
Hoyeraal-Hreidarsson Syndrome
|
|
Dyskeratosis Congenita X-Linked
|
HHS
|
|
Cerebellar Hypoplasia With Pancytopenia
|
Prenatal Growth Retardation With Progressive Pancytopenia And Cerebellar Hypoplasia
|
|
Dyskeratosis Congenita
|
|
|
| Dyskeratosis Congenita |
|
Dyskeratosis Congenita Autosomal Dominant
|
Dc
|
|
Dkc
|
Zinsser-Engman-Cole Syndrome
|
|
Dyskeratosis Congenita, Autosomal Dominant
|
Autosomal Dominant Dyskeratosis Congenita
|
|
Dkca
|
Dyskeratosis Congenita Scoggins Type
|
|
Zinsser-Cole-Engman Syndrome
|
X-Linked Dyskeratosis Congenita
|
|
Hoyeraal-Hreidarsson Syndrome
|
|
|
| Hoyeraal Hreidarsson Syndrome |
|
Hoyeraal-Hreidarsson Syndrome
|
Progressive Pancytopenia-Immunodeficiency-Cerebellar Hypoplasia Syndrome
|
|
Cerebellar Hypoplasia With Pancytopenia
|
Growth Retardation Prenatal With Progressive Pancytopenia And Cerebellar Hypoplasia
|
|
|
| Leukoplakia |
|
Leukoplakia Of Gingiva
|
Leukoplakia Of Oral Epithelium
|
|
Leucoplakia Of Oral Mucosa
|
Leukokeratosis Of Oral Mucosa
|
|
|
| Incontinentia Pigmenti |
|
Bloch-Sulzberger Syndrome
|
IP
|
|
Incontinentia Pigmenti, Familial Male-Lethal Type
|
Incontinentia Pigmenti Syndrome
|
|
Bloch-Siemens Syndrome
|
Ip2
|
|
Incontinentia Pigmenti, Type Ii, Formerly
|
Ip2, Formerly
|
|
Incontinentia Pigmenti Type 2
|
Bloch-Siemens-Sulzberger Syndrome
|
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Familial Incontinentia Pigmenti Male-Lethal Type
|
Familial Incontinentia Pigmenti Type Ii
|
|
Incontinentia Pigmenti, Type Ii
|
Bloch Sulzberger Syndrome
|
|
Incontinentia Pigmenti Achromians
|
Incontinentia Pigmenti Of Bloch-Sulzberger
|
|
Nevus Pigmentosus Systematicus
|
|
|
| Cerebellar Hypoplasia |
|
|
| Revesz Syndrome |
|
Exudative Retinopathy With Bone Marrow Failure
|
DKCA5
|
|
Dyskeratosis Congenita, Autosomal Dominant 5
|
Dyskeratosis Congenita With Bilateral Exudative Retinopathy
|
|
Retinopathy-Anemia-Central Nervous System Anomalies Syndrome
|
Revesz-Debuse Syndrome
|
|
Dyskeratosis Congenita, Autosomal Dominant, 5
|
Revesz Debuse Syndrome
|
|
|
| Aplastic Anemia |
|
Aplastic Anemia, Susceptibility To
|
Anemia Aplastic
|
|
Idiopathic Aplastic Anemia
|
Secondary Aplastic Anemia
|
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Idiopathic Bone Marrow Failure
|
Aplastic Anemia Idiopathic
|
|
AA
|
Anemia, Aplastic
|
|
Aplastic Anemia, Idiopathic
|
Erythroid Aplasia
|
|
Aa - [Aplastic Anaemia]
|
Haematopoietic Aplasia
|
|
Aleukia Haemorrhagica
|
Anaemia Due To Decreased Red Cell Production
|
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Aplasia Bone Marrow
|
Aplastic Bone Marrow
|
|
Hypoplastic Anaemia Nos
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Myeloid Bone Marrow Aplasia
|
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Pancytopenia
|
Panhaematopenia
|
|
Hypoproliferative Anaemia
|
Medullary Hypoplasia
|
|
Red Blood Cells Hypoplastic Anaemia
|
Panmyelophthisis
|
|
Panhemocytopenia
|
Refractive Hypoproliferative Anaemia
|
|
Toxic Anaemia
|
Toxic Aplastic Anaemia
|
|
Aplastic Anaemia Due To Toxic Cause
|
Idiopathic Aplastic Anaemia Nos
|
|
|
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
|
| Adermatoglyphia |
|
ADERM
|
Immigration Delay Disease
|
|
Absence Of Fingerprints
|
Adg
|
|
Congenital Absence Of Fingerprints
|
Isolated Congenital Adermatoglyphia
|
|
Fingerprints, Absence Of
|
Skin Abnormalities
|
|
|
| Pancytopenia |
|
|
| Fanconi Anemia, Complementation Group A |
|
Fanconi Anemia
|
Fanconi Pancytopenia
|
|
Fanconi Anemia Complementation Group A
|
FANCA
|
|
Fa
|
Fanconi Panmyelopathy
|
|
Fanconi'S Anemia
|
Fanconi Anaemia
|
|
Fanconi'S Anaemia
|
Fanconi Hypoplastic Anemia
|
|
Estren-Dameshek Variant Of Fanconi Anemia
|
Estren-Dameshek Variant Of Fanconi Pancytopenia
|
|
Fanconi Anemia Estren-Dameshek Variant
|
Fanconis Anemia
|
|
|
| Shwachman-Diamond Syndrome 1 |
|
Shwachman-Diamond Syndrome
|
Shwachman Syndrome
|
|
Shwachman-Bodian-Diamond Syndrome
|
Sds
|
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Pancreatic Insufficiency And Bone Marrow Dysfunction
|
Shwachman-Bodian Syndrome
|
|
SDS1
|
Lipomatosis Of Pancreas, Congenital
|
|
Congenital Lipomatosis Of Pancreas
|
Shwachman-Diamond Type Metaphyseal Dysplasia
|
|
Metaphyseal Chondrodysplasia, Shwachman Type
|
Shwachman-Diamond-Oski Syndrome
|
|
|
| Chronic Congestive Splenomegaly |
|
|
| Combined Immunodeficiency |
|
Combined T Cell And B Cell Immunodeficiency
|
Congenital Combined Immunodeficiency
|
|
Syndrome With Combined Immunodeficiency
|
Combined T And B Cell Immunodeficiency
|
|
Combined Immunity Deficiency
|
Combined Immunodeficiency Syndrome
|
|
Combined T-Cell And B-Cell Immunodeficiency
|
Lymphopenic Agammaglobulinaemia
|
|
|
| Retinal Telangiectasia |
|
|
| Coats Disease |
|
Exudative Retinopathy
|
Retinal Telangiectasis
|
|
Coats' Disease
|
Leber Miliary Aneurysm
|
|
Coats' Syndrome
|
Congenital Retinal Telangiectasia
|
|
|
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
DKCA1
|
Dyskeratosis Congenita, Scoggins Type
|
|
Autosomal Dominant Dyskeratosis Congenita 1
|
Dyskeratosis Congenita, Autosomal Dominant, Type 1
|
|
Dyskeratosis Congenita, Autosomal Dominant
|
|
|
| Entropion |
|
|
| Severe Combined Immunodeficiency |
|
Scid
|
Severe Combined Immunodeficiency Disease
|
|
Combined T And B Cell Inborn Immunodeficiency
|
Immunodeficiency, Severe Combined
|
|
Scid - [Severe Combined Immunodeficiencies]
|
|
|
| Bowen-Conradi Syndrome |
|
BWCNS
|
Bowen Hutterite Syndrome
|
|
Bowen-Conradi Hutterite Syndrome
|
Bowen Syndrome, Hutterite Type
|
|
Bowen Hutterite Syndrome, Formerly
|
Hutterite Syndrome
|
|
Bowen Syndrome Hutterite Type
|
Fetal Growth Retardation
|
|
|
| Cartilage-Hair Hypoplasia |
|
Metaphyseal Chondrodysplasia, Mckusick Type
|
CHH
|
|
Mckusick Type Metaphyseal Chondrodysplasia
|
Metaphyseal Dysplasia Without Hypotrichosis
|
|
Cartilage Hair Hypoplasia Like Syndrome
|
Metaphyseal Chondrodysplasia Mckusick Type
|
|
Chhv
|
Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only
|
|
Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis Or Immunodeficiency
|
Cartilage-Hair Syndrome
|
|
Mckusick'S Metaphyseal Chondrodysplasia Syndrome
|
Metaphyseal Chondrodysplasia, Recessive Type
|
|
Autosomal Recessive Metaphyseal Chondrodysplasia
|
|
|
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Congenital Amegakaryocytic Thrombocytopenia
|
CAMT
|
|
Thrombocytopenia, Congenital Amegakaryocytic
|
Congenital Amegakaryocytic Thrombocytopenic Purpura
|
|
Thrombocytopenia Congenital Amegakaryocytic
|
Thrombocytopenia, Amegakaryocytic, Congenital
|
|
|
| Diamond-Blackfan Anemia |
|
Congenital Pure Red Cell Aplasia
|
Aase Syndrome
|
|
Erythrogenesis Imperfecta
|
Anemia, Diamond-Blackfan
|
|
Congenital Hypoplastic Anemia
|
Aase-Smith Ii Syndrome
|
|
Bds
|
Blackfan-Diamond Anemia
|
|
Congenital Prca
|
Congenital Hypoplastic Anemia, Blackfan-Diamond Type
|
|
Dba
|
Blackfan - Diamond Syndrome
|
|
Chronic Constitutional Pure Red Cell Anaemia
|
Anemia Diamond Blackfan Type
|
|
Anemia Congenital Erythroid Hypoplastic
|
Aregenerative Anemia Chronic Congenital
|
|
Blackfan Diamond Syndrome
|
Red Cell Aplasia, Pure Hereditary
|
|
Aase-Smith Syndrome Ii
|
Bda
|
|
Blackfan Diamond Anemia
|
Blackfan-Diamond Disease
|
|
Blackfan-Diamond Syndrome
|
Chronic Congenital Agenerative Anemia
|
|
Congenital Erythroid Hypoplastic Anemia
|
Congenital Hypoplastic Anemia Of Blackfan And Diamond
|
|
Congenital Pure Red Cell Anemia
|
Hypoplastic Congenital Anemia
|
|
Inherited Erythroblastopenia
|
Pure Hereditary Red Cell Aplasia
|
|
Anemia, Hypoplastic, Congenital
|
Anemia Hypoplastic Congenital
|
|
Fanconi Anemia
|
Constitutional Aplastic Anemia
|
|
Diamond-Blackfan Anemia 1
|
Aase Smith Syndrome 2
|
|
Congenital Red Cell Aplasia
|
Red Cell Aplasia Of Infants
|
|
Pure Red Cell Aplasia Of Infants
|
Congenital Red Cell Aplastic Anaemia
|
|
Congenital Pure Red Cell Anaemia
|
Congenital Erythroid Hypoplasia
|
|
Pearson Marrow-Pancreas Syndrome
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Breast Cancer |
|
Breast Carcinoma
|
Male Breast Cancer
|
|
Breast Cancer, Familial
|
Malignant Neoplasm Of Breast
|
|
Breast Cancer, Susceptibility To
|
Breast Cancer, Early-Onset
|
|
Malignant Tumor Of Breast
|
Carcinoma Of Male Breast
|
|
Breast Cancer, Invasive Ductal
|
Breast Cancer, Protection Against
|
|
Breast Cancer, Somatic
|
Breast Cancer, Male
|
|
Breast Cancer, Lobular, Somatic
|
Breast Tumor
|
|
Mammary Cancer
|
Mammary Tumor
|
|
Malignant Neoplasm Of Male Breast
|
Mammary Carcinoma
|
|
Male Breast Carcinoma
|
Familial Cancer Of Breast
|
|
Invasive Ductal Breast Carcinoma
|
Breast Cancer Susceptibility
|
|
Breast Cancer, Male, Susceptibility To
|
Breast Cancer, Early-Onset, Susceptibility To
|
|
Malignant Tumor Of The Breast
|
Mammary Neoplasm
|
|
Primary Breast Cancer
|
Neoplasm Of Male Breast
|
|
Carcinoma Of Breast
|
Breast Cancer In Men
|
|
Familial Breast Cancer
|
Cancer Of Breast
|
|
BC
|
Breast Cancer Familial
|
|
Breast Cancer Familial Male
|
Breast Cancer, Familial Male
|
|
Breast Male Carcinoma
|
Breast Neoplasms
|
|
Breast Neoplasms, Male
|
Mammary Tumors
|
|
Mammary Carcinomas
|
Cancer, Breast
|
|
Cancer, Breast, Susceptibility
|
Invasive Breast Ductal Carcinoma
|
|
Breast Neoplasm
|
Susceptibility To Breast Cancer
|
|
Mammary Neoplasms
|
Animal Mammary Neoplasms
|
|
Primary Malignant Neoplasm Of Breast
|
Infiltrating Ductal Carcinoma Of Breast
|
|
Infiltrating Duct Carcinoma Of Unspecified Site
|
Infiltrating Ductular Carcinoma Of Unspecified Site
|
|
Invasive Breast Carcinoma Of No Special Type
|
Microinvasive Carcinoma Of Breast
|
|
Carcinoma With Apocrine Differentiation
|
|
|
| Treacher Collins Syndrome 1 |
|
Treacher Collins Syndrome
|
Mandibulofacial Dysostosis
|
|
Treacher Collins-Franceschetti Syndrome
|
Tcof
|
|
Tcs
|
Mfd1
|
|
Franceschetti-Klein Syndrome
|
TCS1
|
|
Franceschetti Syndrome
|
Franceschetti-Zwahlen-Klein Syndrome
|
|
Zygoauromandibular Dysplasia
|
Treacher-Collins Syndrome
|
|
Mandibulofacial Dysostosis Without Limb Anomalies
|
Bilateral And Symmetric Oto-Mandibular Dysplasia
|
|
|
| Interstitial Lung Disease 2 |
|
Idiopathic Pulmonary Fibrosis
|
Ipf
|
|
Fibrocystic Pulmonary Dysplasia
|
Pulmonary Fibrosis, Idiopathic
|
|
Pulmonary Fibrosis, Idiopathic, Susceptibility To
|
Cryptogenic Fibrosing Alveolitis
|
|
ILD2
|
Idiopathic Pulmonary Fibrosis, Familial
|
|
Fibrosing Alveolitis, Cryptogenic
|
Uip
|
|
Fibrosing Alveolitis
|
Interstitial Pneumonitis, Usual
|
|
Familial Idiopathic Pulmonary Fibrosis
|
Idiopathic Fibrosing Alveolitis, Chronic Form
|
|
Usual Interstitial Pneumonia
|
Fibrosing Alveolitis Cryptogenic
|
|
Hamman-Rich Disease
|
Idiopathic Pulmonary Fibrosis Familial
|
|
Interstitial Pneumonitis Usual
|
Fibrosis Idiopathic Pulmonary
|
|
Fibrosis, Pulmonary, Idiopathic
|
Hamman-Rich Syndrome
|
|
Chronic Idiopathic Pulmonary Fibrosis
|
Acute Interstitial Pneumonia
|
|
Interstitial Pulmonary Fibrosis
|
Ipf - [Idiopathic Pulmonary Fibrosis]
|
|
Idiopathic Lung Fibrosis
|
Fibrosing Lung Disease
|
|
Pulmonary Fibrosis Nos
|
Fibrosing Pneumonitis
|
|
|
| Skin Disease |
|
Skin Diseases
|
Genodermatosis
|
|
Abnormality Of The Skin
|
Skin Diseases, Genetic
|
|
Skin And Subcutaneous Tissue Disease
|
Dermatologic Disorders
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
