| 疾病名称 |
别名 |
|
| Hyperoxaluria, Primary, Type I |
|
Primary Hyperoxaluria Type 1
|
HP1
|
|
Glycolic Aciduria
|
Alanine-Glyoxylate Aminotransferase Deficiency
|
|
Hepatic Agt Deficiency
|
Oxalosis I
|
|
Primary Hyperoxaluria, Type I
|
Serine:Pyruvate Aminotransferase Deficiency
|
|
Hyperoxaluria, Primary, Type 1
|
Peroxisomal Alanine-Glyoxylate Aminotransferase Deficiency
|
|
Peroxisomal Alanine Glyoxylate Aminotransferase Deficiency
|
Serine Pyruvate Aminotransferase Deficiency
|
|
Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency
|
Oxalosis 1
|
|
Hyperoxaluria Primary 1
|
Hyperoxaluria Primary Type I
|
|
Ph1
|
Primary Hyperoxaluria Type I
|
|
Oxalosis Type 1
|
2-Oxoglutarate Glyoxylate Carboligase Deficiency
|
|
|
| Primary Hyperoxaluria |
|
Hyperoxaluria
|
Hyperoxaluria, Primary
|
|
Oxalosis
|
Primary Oxalosis
|
|
Congenital Oxaluria
|
D-Glycerate Dehydrogenase Deficiency
|
|
Glyceric Aciduria
|
Glycolic Aciduria
|
|
Hepatic Agt Deficiency
|
Oxaluria, Primary
|
|
Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency
|
Primary Oxaluria
|
|
Hyperoxaluria Primary
|
Primary Hyperoxaluria Type 2
|
|
Primary Hyperoxaluria, Type I
|
|
|
| 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
|
|
|
| Asymmetric Motor Neuropathy |
|
|
| Histone Mutated Tumor |
|
|
| Weaver Syndrome |
|
Wss
|
Weaver-Smith Syndrome
|
|
WVS
|
Weaver-Like Syndrome
|
|
Weaver-Williams Syndrome
|
Camptodactyly-Overgrowth-Unusual Facies Syndrome
|
|
Camptodactyly - Overgrowth - Unusual Facies
|
Ezh2 Related Overgrowth
|
|
Overgrowth Syndrome With Accelerated Skeletal Maturation, Unusual Facies, And Camptodactyly
|
Weaver Smith Syndrome
|
|
Weaver Like Syndrome
|
Weaver Williams Syndrome
|
|
Camptodactyly-Overgrowth-Unusual Facies
|
Weaver Syndrome 1
|
|
Weaver Syndrome 2
|
Wvs1
|
|
Wvs2
|
|
|
| Diffuse Midline Glioma, H3 K27m-Mutant |
|
Diffuse Intrinsic Pontine Glioma
|
Dipg
|
|
Infiltrative Brainstem Glioma
|
|
|
| Chromosome 16p13.3 Deletion Syndrome, Proximal |
|
Rubinstein-Taybi Syndrome
|
Broad Thumb-Hallux Syndrome
|
|
Chromosome 16p13.3 Deletion Syndrome
|
Rubinstein-Taybi Syndrome Due To 16p13.3 Microdeletion
|
|
Rubinstein Syndrome
|
Broad Thumbs-Halluces Syndrome
|
|
Rsts
|
Rubinstein-Taybi Deletion Syndrome
|
|
Rsts Deletion Syndrome
|
Proximal Chromosome 16p13.3 Deletion Syndrome
|
|
16p13.3 Deletion Syndrome
|
Broad Thumbs And Great Toes, Characteristic Facies, And Intellectual Disability
|
|
Rts
|
|
|
| Kabuki Syndrome 1 |
|
Kabuki Syndrome
|
Niikawa-Kuroki Syndrome
|
|
Kabuki Make-Up Syndrome
|
Kms
|
|
KABUK1
|
Kabuki Make Up Syndrome
|
|
Nks
|
Kabuki Makeup Syndrome
|
|
Kabuki Syndrome, Type 1
|
|
|
| Alpha Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Atr-X Syndrome
|
Atr, Nondeletion Type
|
|
Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
|
Atrx Syndrome
|
|
Alpha-Thalassemia/Mental Retardation Syndrome Nondeletion Type
|
Alpha Thalassemia Intellectual Disability Syndrome, Nondeletion Type, X-Linked
|
|
X-Linked Alpha-Thalassemia/Intellectual Disability Syndrome
|
Xlmr Hypotonic Face Syndrome
|
|
Alpha Thalassemia X-Linked Intellectual Disability Syndrome
|
Alpha Thalassemia X-Linked Mental Retardation Syndrome
|
|
Alpha Thalassemia/Mental Retardation, X-Linked
|
Alpha-Thalassemia X-Linked Mental Retardation Syndrome
|
|
Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type
|
X-Linked Alpha-Thalassemia/Mental Retardation Syndrome
|
|
Xlmr-Hypotonic Face Syndrome
|
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
|
|
Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type, X-Linked
|
|
|
| External Ear Squamous Cell Carcinoma |
|
Epidermoid Carcinoma Of The External Ear
|
Squamous Cell Carcinoma Of External Ear
|
|
|
| Brain Stem Cancer |
|
Brain Stem Neoplasms
|
Malignant Neoplasm Of Brain Stem
|
|
Malignant Neoplasm Of Brainstem
|
Neoplasm Of Adult Brain Stem
|
|
Neoplasm Of Brain Stem
|
Primary Brain Stem Neoplasm
|
|
Primary Brain Stem Tumor
|
Brain Stem Neoplasm
|
|
Brain Stem--Cancer
|
Brain Stem Neoplasms, Primary
|
|
|
| Kleefstra Syndrome |
|
9q34.3 Microdeletion Syndrome
|
9q Subtelomeric Deletion Syndrome
|
|
9q- Syndrome
|
Chromosome 9q Deletion Syndrome
|
|
9q34.3 Deletion Syndrome
|
9qstds
|
|
Chromosome 9q34.3 Deletion Syndrome
|
Chromosome 9, Trisomy 9q
|
|
|
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome |
|
Icf Syndrome
|
Immunodeficiency Syndrome, Variable
|
|
Ciid
|
Centromeric Instability, Immunodeficiency Syndrome
|
|
Immune Deficiency, Variable, With Centromeric Instability Of Chromosomes 1, 9, And 16
|
Icf
|
|
|
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Facioscapulohumeral Muscular Dystrophy
|
Fshd
|
|
Landouzy-Dejerine Muscular Dystrophy
|
Muscular Dystrophy, Facioscapulohumeral
|
|
FSHD1
|
Fshd1a
|
|
Muscular Dystrophy, Facioscapulohumeral, Type 1a
|
Facioscapulohumeral Muscular Dystrophy Type 1a
|
|
Fsh Muscular Dystrophy
|
Facioscapulohumeral Muscular Dystrophy 1a
|
|
Facioscapulohumeral Atrophy
|
Facioscapulohumeral Myopathy
|
|
Muscular Dystrophy, Facioscapulohumeral, Type 1
|
Facioscapulohumeral Muscular Dystrophy Type 1
|
|
Landouzy Dejerine Muscular Dystrophy
|
Muscular Dystrophy, Landouzy-Dejerine
|
|
Fshmd1a
|
Facio-Scapulo-Humeral Dystrophy
|
|
Facioscapulohumeral Type Progressive Muscular Dystrophy
|
Facioscapuloperoneal Muscular Dystrophy
|
|
Facioscapulohumeral Dystrophy
|
Fsh Dystrophy
|
|
Landouzy-Dejerine Dystrophy
|
Landouzy-Dejerine Myopathy
|
|
Fmd
|
Facioscapulohumeral Muscular Dystrophy-1a
|
|
Muscular Dystrophy Facioscapulohumeral
|
Dystrophy, Muscular, Facioscapulohumeral
|
|
Dystrophy, Muscular, Facioscapulohumeral, Type 1
|
Landouzy-Dejerine Disease
|
|
Landouzy-Déjerine Atrophy
|
Facioscapulohumeral Muscle Dystrophy
|
|
Fmd - [Facioscapulohumeral Muscular Dystrophy]
|
Fsh - [Facioscapulohumeral Muscular Dystrophy]
|
|
Fshd - [Facioscapulohumeral Muscular Dystrophy]
|
Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy
|
|
Landouzy-Déjérine Muscular Dystrophy
|
|
|
| Sotos Syndrome |
|
Cerebral Gigantism
|
SOTOS
|
|
Chromosome 5q35 Deletion Syndrome
|
Sotos Syndrome 1, Formerly
|
|
Sotos1, Formerly
|
Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development
|
|
Sotos Sequence
|
Sotos' Syndrome
|
|
Sotos1
|
Sotos Syndrome 1
|
|
|
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
|
| Otopalatodigital Syndrome, Type I |
|
Otopalatodigital Syndrome Type 1
|
Taybi Syndrome
|
|
OPD1
|
Opd Syndrome 1
|
|
Oto-Palato-Digital Syndrome Type 1
|
Opd I Syndrome
|
|
Oto-Palato-Digital Syndrome, Type I
|
Otopalatodigital Syndrome Type I
|
|
Opd Syndrome
|
Cranioorodigital Syndrome
|
|
Faciopalatoosseous Syndrome
|
Fpo
|
|
Opd Syndrome, Type 1
|
Otopalatodigital Syndrome 1
|
|
|
| Adult Syndrome |
|
Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome
|
Acro Dermato Ungual Lacrimal Tooth Syndrome
|
|
Pigment Anomaly-Ectrodactyly-Hypodontia Syndrome
|
Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome
|
|
Adult
|
|
|
| Microcephaly 7, Primary, Autosomal Recessive |
|
MCPH7
|
Primary Autosomal Recessive Microcephaly 7
|
|
Microcephaly, Primary Autosomal Recessive, 7
|
|
|
| Kleefstra Syndrome 1 |
|
9q Subtelomeric Deletion Syndrome
|
KLEFS1
|
|
Chromosome 9q34.3 Deletion Syndrome
|
9q- Syndrome
|
|
9q34 Deletion Syndrome
|
Kleefstra Syndrome Due To 9q34 Microdeletion
|
|
Kleefstra Syndrome
|
9q-Syndrome
|
|
9qstds
|
Kleefstra Syndrome Due To 9q Subtelomeric Deletion
|
|
Kleefstra Syndrome Due To Del(9)(Q34)
|
Kleefstra Syndrome Due To Monosomy 9q34
|
|
Chromosome 9q Subtelomeric Deletion Syndrome
|
Kleefstra Syndrome, Type 1
|
|
|
| Mature T-Cell And Nk-Cell Lymphoma |
|
Mature T-Cell And Natural Killer Cell Lymphoma
|
Nk-T Cell Lymphoma
|
|
|
| External Ear Carcinoma |
|
Carcinoma Of External Ear
|
Carcinoma Of The External Ear
|
|
|
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
CMTX3
|
Charcot-Marie-Tooth Disease X-Linked Recessive 3
|
|
Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 3
|
Cmt3x
|
|
X-Linked Charcot-Marie-Tooth Disease Type 3
|
Charcot-Marie-Tooth Neuropathy X-Linked Recessive 3
|
|
Charcot-Marie-Tooth Disease, X-Linked Type 3, Recessive
|
|
|
| Infratentorial Cancer |
|
Infratentorial Neoplasms
|
Brain Neoplasm, Infratentorial
|
|
Malignant Infratentorial Tumors
|
|
|
| Intellectual Developmental Disorder, Autosomal Dominant 46 |
|
MRD46
|
Mental Retardation, Autosomal Dominant 46
|
|
Autosomal Dominant Mental Retardation 46
|
Autosomal Dominant Intellectual Developmental Disorder 46
|
|
Mental Retardation, Autosomal Dominant, Type 46
|
|
|
| Wolf-Hirschhorn Syndrome |
|
Pitt-Rogers-Danks Syndrome
|
WHS
|
|
Chromosome 4p16.3 Deletion Syndrome
|
Wittwer Syndrome
|
|
4p- Syndrome
|
Pitt Syndrome
|
|
4p Deletion Syndrome
|
Distal Deletion 4p
|
|
Distal Monosomy 4p
|
Telomeric Deletion 4p
|
|
Prds
|
4p Syndrome
|
|
Chromosome 4p Syndrome
|
Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation
|
|
Wolf Syndrome
|
Chromosome 4p Deletion Syndrome
|
|
Chromosome 4p Monosomy
|
Del Syndrome
|
|
Monosomy 4p
|
Partial Monosomy 4p
|
|
Chromosome 4 Short Arm Deletion
|
|
|
| Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Mental Retardation, X-Linked 3
|
Methylmalonic Acidemia With Homocystinuria, Type Cblx
|
|
MAHCX
|
Intellectual Developmental Disorder, X-Linked 3
|
|
Xlid3
|
Mrx3
|
|
Methylmalonic Acidemia And Homocysteinemia Cblx Type
|
Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblx
|
|
Methylmalonic Aciduria With Homocystinuria, Type Cblx
|
Methylmalonic Acidemia And Homocysteinemia, Cblx Type
|
|
Methylmalonic Aciduria And Homocysteinemia, Cblx Type
|
Methylmalonic Aciduria And Homocysteinemia , Cblx Type
|
|
Mental Retardation, X-Linked, Type 3
|
|
|
| Alpha-Thalassemia |
|
Alpha Thalassemia
|
Alpha Thalassaemia
|
|
Alpha Plus Thalassemia
|
Thalassemia, Alpha-
|
|
Thalassemias, Alpha-
|
A-Thalassemia
|
|
Α-Thalassemia
|
A-THAL
|
|
Thalassemia
|
Alpha Thalassaemia Syndrome
|
|
|
| Colorectal Cancer |
|
Colon Cancer
|
Colorectal Carcinoma
|
|
Colon Carcinoma
|
Colorectal Cancer, Susceptibility To
|
|
Carcinoma Of Colon
|
CRC
|
|
Colorectal Cancer With Chromosomal Instability, Somatic
|
Colon Cancer, Somatic
|
|
Colon Cancer, Susceptibility To
|
Colonic Neoplasms
|
|
Colorectal Neoplasms
|
Colorectal Cancer, Somatic
|
|
Colon Cancer, Advanced, Somatic
|
Colonic Carcinoma
|
|
Colorectal Carcinomas
|
Colon Cancers
|
|
Colorectal Cancers
|
Cancer, Colorectal, Somatic
|
|
Cancer, Colon
|
Cancer, Colorectal, Susceptibility To
|
|
Colorectal Neoplasm
|
Colonic Neoplasm
|
|
Malignant Tumor Of Colon
|
|
|
| Renal Cell Carcinoma, Nonpapillary |
|
Renal Cell Carcinoma
|
RCC
|
|
Nonpapillary Renal Cell Carcinoma
|
Clear Cell Renal Cell Carcinoma
|
|
Hypernephroma
|
Adenocarcinoma Of Kidney
|
|
Renal Carcinoma, Chromophobe, Somatic
|
Clear Cell Carcinoma Of Kidney
|
|
Clear-Cell Metastatic Renal Cell Carcinoma
|
Clear Cell Renal Carcinoma
|
|
Renal Cell Carcinoma, Somatic
|
Conventional Renal Cell Carcinoma
|
|
Conventional Renal Cell Carcinoma
|
Renal Clear Cell Carcinoma
|
|
Ccrcc
|
Hereditary Clear Cell Renal Cell Carcinoma
|
|
Carcinoma, Renal Cell
|
Renal Cell Carcinoma, Clear Cell, Somatic
|
|
Renal Cell Carcinoma, Clear Cell
|
Clear Cell Kidney Carcinoma
|
|
Clear Cell Rcc
|
Cystic-Multilocular Variant
|
|
Clear Cell Renal Cell Adenocarcinoma
|
Hereditary Clear Cell Renal Cell Adenocarcinoma
|
|
Common Renal Cell Carcinoma
|
Crcc
|
|
Renal Cell Carcinoma Non-Papillary
|
Carcinoma Renal Cell
|
|
Renal Cell Cancer
|
Carcinoma, Renal Cell, Nonpapillary
|
|
|
| Cornelia De Lange Syndrome |
|
De Lange Syndrome
|
Brachmann De Lange Syndrome
|
|
Brachmann-De Lange Syndrome
|
Cdls
|
|
Bdls
|
Typus Degenerativus Amstelodamensis
|
|
|
| Leukemia, Acute Myeloid |
|
Acute Myeloid Leukemia
|
Leukemia, Acute Myelogenous
|
|
Acute Myelogenous Leukemia
|
AML
|
|
Leukemia, Acute Myeloid, Susceptibility To
|
Acute Myeloblastic Leukemia
|
|
Leukemia, Acute Myeloid, Reduced Survival In, Somatic
|
Acute Myeloid Leukaemia
|
|
Leukemia, Myelocytic, Acute
|
Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome
|
|
Secondary Aml
|
Acute Myelocytic Leukemia
|
|
Acute Myeloid Leukemia, Somatic
|
Leukemia, Acute Myeloid, Somatic
|
|
Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic
|
Acute Myeloblastic Leukaemia
|
|
Acute Myelogenous Leukaemia
|
Aml - Acute Myeloid Leukemia
|
|
Acute Myeloid Leukemia With Cebpa Somatic Mutations
|
Aml With Cebpa Somatic Mutations
|
|
Inherited Acute Myeloid Leukemia
|
Familial Aml
|
|
Inherited Aml
|
Pure Familial Aml
|
|
Pure Familial Acute Myeloid Leukemia
|
Secondary Acute Myeloid Leukemia
|
|
Therapy-Related Aml And Myelodysplastic Syndrome
|
Acute Myeloid Leukemia, Secondary
|
|
Acute Non-Lymphoblastic Leukemia
|
Acute Non-Lymphocytic Leukemia
|
|
Acute Biphenotypic Leukemia
|
Acute Undifferentiated Leukemia
|
|
Acute Myeloblastic Leukaemia With Multilineage Dysplasia
|
Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission
|
|
Acute Myeloid Leukaemia With Myelodysplasia-Related Features
|
|
|
| Syndromic Intellectual Disability |
|
|
| Beckwith-Wiedemann Syndrome |
|
Wiedemann-Beckwith Syndrome
|
BWS
|
|
Exomphalos-Macroglossia-Gigantism Syndrome
|
Emg Syndrome
|
|
Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation
|
Emg Abnormality
|
|
Wbs
|
Exomphalos Macroglossia Gigantism Syndrome
|
|
Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation
|
Macroglossia Exomphalos Gigantism
|
|
|
| Peripheral Nervous System Disease |
|
Peripheral Neuropathy
|
Peripheral Nerve Disease
|
|
Peripheral Nerve Disorders
|
Neuropathy, Peripheral
|
|
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| Eye Disease |
|
Eye Diseases
|
Abnormality Of The Eye
|
|
Toxoplasma Oculopathy
|
|
|
| Acute Promyelocytic Leukemia |
|
Leukemia, Acute Promyelocytic
|
Acute Myeloblastic Leukemia Type 3
|
|
Aml M3
|
APL
|
|
Leukemia, Acute Promyelocytic, Somatic
|
Aml With T(15
|
|
17)(Q22
|
Q12)
|
|
(Pml/Raralpha) And Variants
|
Apml
|
|
Acute Myeloblastic Leukemia 3
|
Acute Myeloid Leukemia With T(15
|
|
17)(Q22
|
Q12)
|
|
(Pml/Raralpha) And Variants
|
Acute Myeloblastic Leukaemia Type 3
|
|
Acute Myeloid Leukaemia M3
|
Acute Myeloid Leukemia M3
|
|
Acute Promyelocytic Leukaemia
|
M3 Anll
|
|
Myeloid Leukemia, Acute, M3
|
Leukemia Promyelocytic Acute
|
|
Leukemia, Promyelocytic, Acute
|
Leukemia, Acute, Promyelocytic
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic Lateral Sclerosis
|
ALS
|
|
Lou Gehrig Disease
|
Amyotrophic Lateral Sclerosis Type 1
|
|
Charcot Disease
|
ALS1
|
|
Amyotrophic Lateral Sclerosis, Susceptibility To
|
Fals
|
|
Lou Gehrig'S Disease
|
Mnd
|
|
Motor Neuron Disease
|
Familial Amyotrophic Lateral Sclerosis
|
|
Amyotrophic Lateral Sclerosis 1, Familial
|
Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
|
|
Motor Neuron Disease, Bulbar
|
Motor Neurone Disease
|
|
Amyotrophic Lateral Sclerosis With Dementia
|
Dementia With Amyotrophic Lateral Sclerosis
|
|
Motor Neuron Disease, Amyotrophic Lateral Sclerosis
|
Sclerosis, Lateral, Amyotrophic
|
|
Sclerosis, Lateral, Amyotrophic, Type 1
|
Amyotrophic Sclerosis
|
|
Als - [Amyotrophic Lateral Sclerosis]
|
Wasting Palsy
|
|
Amyotrophic Paralysis
|
Amyotrophy Lateral Sclerosis
|
|
Wasting Paralysis
|
Spinal Progressive Amyotrophy
|
|
Progressive Atrophic Paralysis
|
|
|
| Retinitis Pigmentosa |
|
RP
|
Rod-Cone Dystrophy
|
|
Autosomal Recessive Retinitis Pigmentosa
|
Non-Syndromic Retinitis Pigmentosa
|
|
Pericentral Pigmentary Retinopathy
|
Pigmentary Retinopathy
|
|
Tapetoretinal Degeneration
|
Rcd
|
|
Retinitis Pigmentosa Autosomal Recessive
|
ARRP
|
|
Retinitis Pigmentosa, Autosomal Recessive
|
Retinitis Pigmentosa 1
|
|
|
