| 疾病名称 |
别名 |
|
| Nestor-Guillermo Progeria Syndrome |
|
NGPS
|
Pscoo
|
|
Progeria Syndrome, Childhood-Onset, With Osteolysis
|
Progeria Syndrome Childhood-Onset With Osteolysis
|
|
Progeria Syndrome, Nestor-Guillermo
|
|
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| Progeroid Syndrome |
|
|
| Vaccinia |
|
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| Familial Partial Lipodystrophy |
|
Lipodystrophy, Familial Partial
|
Fpld
|
|
Kobberling-Dunnigan Syndrome
|
Dunnigan Syndrome
|
|
Koberling-Dunnigan Syndrome
|
Dunnigan-Kobberling Syndrome
|
|
Fpl
|
Familial Partial Lipodystrophy, Type 2
|
|
|
| Emery-Dreifuss Muscular Dystrophy |
|
Edmd
|
Emery-Dreifuss Syndrome
|
|
Muscular Dystrophy, Emery-Dreifuss
|
Humeroperoneal Neuromuscular Disease
|
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Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures
|
Scapuloperoneal Syndrome, X-Linked
|
|
Benign Scapuloperoneal Muscular Dystrophy With Early Contractures
|
Muscular Dystrophy, Emery-Dreifuss Type
|
|
Muscular Dystrophy Emery-Dreifuss
|
Dystrophy, Muscular, Emery-Dreifuss
|
|
Emd - [Emery-Dreifuss Muscular Dystrophy]
|
|
|
| Coffin-Siris Syndrome 1 |
|
Coffin-Siris Syndrome
|
Fifth Digit Syndrome
|
|
Css
|
CSS1
|
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Mrd12
|
Mental Retardation, Autosomal Dominant 12
|
|
Hhid
|
Dwarfism-Onychodysplasia
|
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Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features
|
Autosomal Dominant Mental Retardation 12
|
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Short Stature-Onychodysplasia.
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Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx
|
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Mental Retardation With Hypoplastic Fifth Fingernails And Toenails
|
Short Stature-Onychodysplasia
|
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Coffin-Siris Syndrome, Type 1
|
Mental Retardation, Autosomal Dominant, Type 12
|
|
|
| Clark-Baraitser Syndrome |
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CLABARS
|
Baraitser Syndrome
|
|
Autosomal Dominant Intellectual Disability 49
|
Mental Retardation, Autosomal Dominant 49, Formerly
|
|
Mrd49, Formerly
|
Intellectual Developmental Disorder, Autosomal Dominant 49
|
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Autosomal Dominant Mental Retardation 49
|
Intellectual Disability, Tall Stature, Obesity, Macrocephaly And Typical Facial Features
|
|
Mrd49
|
Progeria Short Stature Pigmented Nevi
|
|
|
| Autosomal Dominant Intellectual Developmental Disorder |
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Autosomal Dominant Mental Retardation
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Autosomal Dominant Non-Syndromic Mental Retardation
|
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Autosomal Dominant Non-Syndromic Intellectual Disability
|
Mental Retardation, Autosomal Dominant
|
|
|
| Smarca4-Deficient Sarcoma Of Thorax |
|
Smarca4-Dts
|
Smarca4-Deficient Thoracic Sarcoma
|
|
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| Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Malouf Syndrome
|
Najjar Syndrome
|
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Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
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Cardiogenital Syndrome
|
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Genital Anomaly With Cardiomyopathy
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Cardiomyopathy With Primary Testicular Failure
|
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Dilated Cardiomyopathy With Hypergonadotropic Hypogonadism
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Cardiomyopathy, Congestive, With Hypergonadotropic Hypogonadism
|
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Cardiomyopathy, Dilated, With Premature Ovarian Failure
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Cardiomyopathy Eith Primary Testicular Failure
|
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Congestive Cardiomyopathy With Hypergonadotropic Hypogonadism
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Dilated Cardiomyopathy With Premature Ovarian Failure
|
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CMDHH
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Cardiomyopathy Congestive With Hypergonadotropic Hypogonadism
|
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Cardiomyopathy Dilated With Premature Ovarian Failure
|
|
|
| Lipodystrophy, Familial Partial, Type 2 |
|
FPLD2
|
Lipoatrophic Diabetes
|
|
Familial Partial Lipodystrophy Type 2
|
Familial Partial Lipodystrophy, Dunnigan Type
|
|
Fpl2
|
Lipoatrophic Diabetes Mellitus
|
|
Lipodystrophy, Familial Partial, Dunnigan Type
|
Lipodystrophy, Familial, Of Limbs And Lower Trunk
|
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Lipodystrophy, Reverse Partial
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Familial Partial Lipodystrophy Dunnigan Type
|
|
Dunnigan Syndrome
|
Familial Lipodystrophy Of Limbs And Lower Trunk
|
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Reverse Partial Lipodystrophy
|
Lipodystrophy, Familial Partial, 2
|
|
Generalized Lipoatrophy Associated With Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy And Leukomelanodermic Papules
|
Lipodystrophy Familial Of Limbs And Lower Trunk
|
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Lipodystrophy Reverse Partial
|
Diabetes Mellitus, Lipoatrophic
|
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Familial Partial Lipodystrophy, Type 2
|
Familial Generalized Lipodystrophy
|
|
|
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
EDMD1
|
Emd1
|
|
Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures
|
X-Linked Emery-Dreifuss Muscular Dystrophy 1
|
|
Humeroperoneal Neuromuscular Disease
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
|
Scapuloperoneal Syndrome, X-Linked, Formerly
|
Humeroperoneal Neuromuscular Disease, Formerly
|
|
Scapuloperoneal Syndrome, X-Linked
|
Muscular Dystrophy Tardive Dreifuss-Emery Type With Contractures
|
|
Scapuloperoneal Syndrome X-Linked
|
X-Edmd
|
|
Dystrophy, Muscular, Emery-Dreifuss, Type 1, X-Linked
|
|
|
| Diamond-Blackfan Anemia 20 |
|
DBA20
|
Rps15a-Related Diamond-Blackfan Anemia
|
|
|
| Rhabdoid Cancer |
|
Rhabdoid Tumor
|
Malignant Rhabdoid Tumor
|
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Malignant Rhabdoid Tumour
|
Rhabdoid Sarcoma
|
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Rhabdoid Tumor Predisposition Syndrome 1
|
Rhabdoid Tumor Predisposition Syndrome 2
|
|
Atypical Teratoid Rhabdoid Tumor
|
Brain Tumor, Posterior Fossa, Of Infancy, Familial
|
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Atypical Teratoid/Rhabdoid Tumor
|
|
|
| Borjeson-Forssman-Lehmann Syndrome |
|
BFLS
|
Borj
|
|
Borjeson Syndrome
|
Mrxsbfl
|
|
Intellectual Deficiency-Epilepsy-Endocrine Disorders Syndrome
|
Intellectual Disability-Epilepsy-Endocrine Disorders Syndrome
|
|
Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type
|
Mental Retardation, Epilepsy, And Endocrine Disorders
|
|
Mental Retardation, Epilepsy, And Endocrine Disorder
|
Syndromic X-Linked Mental Retardation Borjeson-Forssman-Lehmann Type
|
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Mental Deficiency, Epilepsy And Endocrine Disorders
|
Boerjeson-Forssman-Lehmann Syndrome
|
|
Borjeson-Forssman Syndrome
|
Mental Deficiency-Epilepsy- Endocrine Disorders
|
|
|
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
EDMD2
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
|
|
Emd2
|
Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant
|
|
Scapuloilioperoneal Atrophy With Cardiopathy
|
Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant
|
|
Hauptmann-Thannhauser Muscular Dystrophy
|
Cardiomyopathy, Dilated, With Quadriceps Myopathy
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2
|
Muscular Dystrophy, Limb-Girdle, Type 1b
|
|
Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly
|
Lgmd1b, Formerly
|
|
Muscular Dystrophy, Proximal, Type 1b, Formerly
|
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
|
|
Lgmd1b
|
Limb-Girdle Muscular Dystrophy 1b
|
|
Muscular Dystrophy, Proximal, Type 1b
|
Muscular Dystrophy With Early Contractures And Cardiomyopathy Autosomal Dominant
|
|
|
| Helsmoortel-Van Der Aa Syndrome |
|
HVDAS
|
Mrd28
|
|
Adnp Syndrome
|
Adnp-Related Syndromic Intellectual Disability-Autism Spectrum Disorder
|
|
Mental Retardation, Autosomal Dominant 28
|
Adnp-Related Multiple Congenital Anomalies - Intellectual Disability - Autism Spectrum Disorder
|
|
Mental Retardation, Autosomal Dominant 28, Formerly
|
Mrd28, Formerly
|
|
Autosomal Dominant Mental Retardation 28
|
Adnp-Related Intellectual Disability And Autism Spectrum Disorder
|
|
Adnp-Related Multiple Congenital Anomalies-Intellectual Disability-Autism Spectrum Disorder
|
|
|
| Synovium Cancer |
|
Malignant Tumor Of Synovium
|
Synovial Neoplasm
|
|
|
| Large Cell Carcinoma With Rhabdoid Phenotype |
|
Large Cell Lung Carcinoma With Rhabdoid Phenotype
|
|
|
| Neurilemmomatosis |
|
Schwannomatosis
|
Neurofibromatosis Type 3
|
|
Nf3
|
Neurilemmomatosis Congenital Cutaneous
|
|
Neurinomatosis
|
Congenital Cutaneous Neurilemmomatosis
|
|
Multiple Neurilemmomas
|
Multiple Schwannomas
|
|
Neurilemmomatosis, Congenital Cutaneous
|
Schwannomatosis 1
|
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Neurofibromatosis 3
|
Mixed Central And Peripheral Neurofibromatosis
|
|
Nf3 - [Neurofibromatosis Type 3]
|
|
|
| Buschke-Ollendorff Syndrome |
|
BOS
|
Dermatoosteopoikilosis
|
|
Dermatofibrosis Lenticularis Disseminata With Osteopoikilosis
|
Osteopathia Condensans Disseminata
|
|
Dermatofibrosis Lenticularis Disseminata
|
Disseminated Dermatofibrosis With Osteopoikilosis
|
|
Dermatofibrosis, Disseminated, With Osteopoikilosis
|
Osteopoikilosis With Or Without Melorheostosis
|
|
Dermatofibrosis, Disseminated With Osteopoikilosis
|
Dermatofibrosis Disseminata Lenticularis
|
|
Isolated Osteopoikilosis
|
Osteopoikilosis, Isolated
|
|
|
| Muscular Dystrophy |
|
Muscular Dystrophies
|
Congenital Md
|
|
Congenital Muscular Dystrophy
|
Cmd
|
|
Mdc
|
Dystrophy, Muscular
|
|
Gower'S Muscular Dystrophy
|
Progressive Musclular Dystrophy
|
|
Pseudohypertrophic Atrophy
|
Pseudohypertrophic Muscle Paralysis
|
|
Pseudohypertrophic Muscular Atrophy
|
Pseudohypertrophic Muscular Dystrophy
|
|
Pseudohypertrophic Paralysis
|
Pseudomuscular Hypertrophy
|
|
|
| Ovarian Clear Cell Carcinoma |
|
Clear-Cell Ovarian Carcinoma
|
|
|
| Atypical Teratoid Rhabdoid Tumor |
|
Rhabdoid Tumor Predisposition Syndrome
|
Rtps
|
|
Atypical Teratoid/Rhabdoid Tumor
|
Rhabdoid Predisposition Syndrome
|
|
Familial Posterior Fossa Brain Tumor Of Infancy
|
Familial Rhabdoid Tumor
|
|
At/Rt
|
Atypical Teratoid Rhabdoid Tumour
|
|
Atypical Teratoid/Rhabdoid Tumour
|
Rhabdoid Tumor Of The Cns
|
|
Rhabdoid Tumour Of The Cns
|
Familial Posterior Fossa Brain Tumor Syndrome
|
|
Hereditary Swi/Snf Deficiency Syndrome
|
Atrt
|
|
|
| Muscular Dystrophy, Congenital, Lmna-Related |
|
Congenital Muscular Dystrophy
|
Congenital Muscular Dystrophy Due To Lmna Mutation
|
|
MDCL
|
L-Cmd
|
|
Lmna-Related Congenital Muscular Dystrophy
|
Muscular Dystrophy, Congenital
|
|
Congenital Muscular Dystrophy Lmna-Related
|
Lmna-Related Cmd
|
|
Cmd
|
Mdc
|
|
Muscular Dystrophy Congenital Lmna-Related
|
Dystrophy, Muscular, Congenital, Lmna-Related
|
|
Dystrophy, Muscular, Congenital
|
Hereditary Muscular Dystrophy
|
|
Congenital Hereditary Muscular Dystrophy
|
Congenital Progressive Muscular Dystrophy
|
|
Hereditary Progressive Muscular Dystrophy
|
|
|
| Hutchinson-Gilford Progeria Syndrome |
|
Progeria
|
HGPS
|
|
Hutchinson-Gilford Syndrome
|
Hutchinson-Gilford Progeria
|
|
Hutchinson Gilford Syndrome
|
Hutchinson Gilford Progeria Syndrome
|
|
Hutchinson-Gilford Disease
|
Progeria Of Childhood
|
|
Hutchinson-Gilford-Progeria Syndrome
|
|
|
| Sarcoma, Synovial |
|
Synovial Sarcoma
|
Synovialosarcoma
|
|
Synovial Cell Sarcoma
|
Sarcoma Synovial
|
|
|
| Immune Deficiency Disease |
|
Immunodeficiency
|
Primary Immunodeficiency
|
|
Primary Immunodeficiency Disease
|
Immunologic Deficiency Syndromes
|
|
Hypoimmunity
|
Immune Deficiency Disorder
|
|
Immunodeficiency Syndrome
|
Immune Disorder
|
|
Primary Immune Deficiency Disorder
|
Immune System Diseases
|
|
Human Immunodeficiency Virus Infection
|
Hiv - [Human Immunodeficiency Virus Infection]
|
|
Hiv Positive Nos
|
Hiv Disease
|
|
Acquired Immune Deficiency Syndrome-Related Complex
|
Aids-Like Syndrome
|
|
Aids-Related Complex Nos
|
Arc - [Aids-Related Complex]
|
|
Immunodeficiency Due To Human Immunodeficiency Virus Infection
|
Unspecified Human Immunodeficiency Virus Disease
|
|
Hiv Disease Nos
|
Human Immunodeficiency Virus Positive Nos
|
|
Hiv Nos
|
Deficiency Of Complement Initial Pathway
|
|
Deficiency Of Complement Terminal Pathway
|
Cfdd - [Complement Factor D Deficiency]
|
|
Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency
|
Nonfamilial Hypogammaglobulinaemia
|
|
Common Variable Immune Deficiency
|
Nonfamilial Agammaglobulinaemia
|
|
Common Variable Agammaglobulinaemia
|
Agammaglobulinaemia Nos
|
|
Agammaglobulinaemia Antibody Deficiency Syndrome
|
Hypogammaglobulinaemia Antibody Deficiency Syndrome
|
|
Acquired Agammaglobulinaemia Nos
|
Hypogammaglobulinaemia Nos
|
|
Hyper Igm
|
|
|
| Hypertrichosis |
|
|
| Charge Syndrome |
|
Charge Association
|
Hall-Hittner Syndrome
|
|
Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies
|
Hhs
|
|
Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies
|
Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome
|
|
CHARGES
|
|
|
| Cornelia De Lange Syndrome |
|
De Lange Syndrome
|
Brachmann De Lange Syndrome
|
|
Brachmann-De Lange Syndrome
|
Cdls
|
|
Bdls
|
Typus Degenerativus Amstelodamensis
|
|
|
| Syndromic Intellectual Disability |
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
