| 疾病名称 |
别名 |
|
| Megaloblastic Anemia, Folate-Responsive |
|
MEGAF
|
Folate Level In Erythrocytes
|
|
|
| Knobloch Syndrome |
|
Knobloch-Layer Syndrome
|
Retinal Detachment-Occipital Encephalocele Syndrome
|
|
Myopia Retinal Detachment Encephalocele
|
Retinal Detachment And Occipital Encephalocele
|
|
|
| Glaucoma, Primary Closed-Angle |
|
GLCC
|
Primary Angle-Closure Glaucoma
|
|
|
| Knobloch Syndrome 1 |
|
Retinal Detachment And Occipital Encephalocele
|
Knobloch Syndrome, Type 1
|
|
KNO1
|
Kno
|
|
Knobloch Syndrome
|
|
|
| Stargardt Disease 1 |
|
Fundus Flavimaculatus
|
STGD1
|
|
Retinal Dystrophy, Early-Onset Severe
|
Macular Dystrophy With Flecks, Type 1
|
|
Stargardt'S Disease
|
Stgd
|
|
Macular Degeneration, Juvenile
|
Macular Degeneration Juvenile
|
|
FFM
|
Juvenile Macular Degeneration
|
|
Macular Dystrophy With Flecks Type 1
|
Early Onset And Severe Retinal Dystrophy
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
TRMA
|
Rogers Syndrome
|
|
Thiamine-Responsive Myelodysplasia
|
Thiamine-Responsive Anemia Syndrome
|
|
Thiamine Metabolism Dysfunction Syndrome 1
|
Thmd1
|
|
Megaloblastic Anemia, Thiamine-Responsive, With Diabetes Mellitus And Sensorineural Deafness
|
Thiamine-Responsive Megaloblastic Anemia With Diabetes Mellitus And Sensorineural Deafness
|
|
Thiamine Responsive Megaloblastic Anemia Syndrome
|
Megaloblastic Anemia Thiamine-Responsive With Diabetes Mellitus And Sensorineural Deafness
|
|
Thiamine-Responsive Megaloblastic Anemia
|
Thiamine-Responsive Anaemia Syndrome
|
|
Thiamine-Responsive Megaloblastic Anaemia Syndrome
|
Thiamine-Responsive Megaloblastic Anaemia With Diabetes Mellitus And Sensorineural Deafness
|
|
Thiamine-Responsive Megaloblastic Anemia With Diabetes Mellitus And Sensorineural Hearing Loss
|
|
|
| Hyperhomocysteinemia |
|
|
| Neural Tube Defects |
|
Spina Bifida
|
Neural Tube Defect
|
|
NTD
|
Neural Tube Defects, Susceptibility To
|
|
Spinal Dysraphism
|
Spina Bifida, Susceptibility To
|
|
Rachischisis
|
Cleft Spine
|
|
Open Spine
|
Hydrocele Spinalis
|
|
Neural Tube Defect Nos
|
Sb - [Spina Bifida]
|
|
Spinal Hernia Nos
|
Spinal Fissure Nos
|
|
|
| Megaloblastic Anemia |
|
Imerslund-Grasbeck Syndrome
|
Igs
|
|
Defect Of Enterocyte Intrinsic Factor Receptor
|
Enterocyte Cobalamin Malabsorption
|
|
Familial Megaloblastic Anemia
|
Megaloblastic Anemia 1
|
|
Selective Cobalamin Malabsorption With Proteinuria
|
Imerslund-Gräsbeck Syndrome
|
|
Anemia, Megaloblastic
|
Grasbeck-Imerslund Syndrome
|
|
Megaloblastic Anaemia
|
Mga1 Norwegian Type
|
|
Recessive Hereditary Megaloblastic Anaemia 1
|
Recessive Hereditary Megaloblastic Anemia 1
|
|
Rh-Mga1
|
Gräsbeck-Imerslund Disease
|
|
Pernicious Anemia, Juvenile, Due To Selective Intestinal Malabsorption Of Vitamin B12, With Proteinuria
|
Juvenile Pernicious Anemia With Proteinuria Due To Selective Intestinal Malabsorption Of Vitamin B12
|
|
Anemia Megaloblastic
|
Megaloblastic Anemia Due To Inborn Errors Of Metabolism
|
|
3-@Methylglutaconic Aciduria, Type I
|
|
|
| Childhood Acute Lymphocytic Leukemia |
|
Childhood Acute Lymphoblastic Leukemia
|
Childhood All
|
|
Pediatric Acute Lymphoblastic Leukemia
|
Lymphoblastic Leukemia Acute Childhood
|
|
|
| Myelomeningocele |
|
|
| Thiamine Metabolism Dysfunction Syndrome 2 |
|
Biotin-Responsive Basal Ganglia Disease
|
Basal Ganglia Disease, Biotin-Responsive
|
|
THMD2
|
Bbgd
|
|
Btbgd
|
Encephalopathy, Thiamine-Responsive
|
|
Thiamine Metabolism Dysfunction Syndrome 2, Biotin- Or Thiamine-Responsive Type
|
Thiamine-Responsive Encephalopathy
|
|
|
| Cataract |
|
Cataracts
|
Cat - [Cataract]
|
|
Cataract Form
|
Lens Opacity
|
|
Lens Opacities
|
|
|
| Cleft Lip |
|
Cheiloschisis
|
Labium Leporinum
|
|
Cleft Lip, Unilateral, Complete
|
Complete Unilateral Cleft Lip
|
|
Hare Lip
|
Congenital Fissure Of Lip
|
|
Isolated Cleft Lip
|
Cleft Lip Without Cleft Palate
|
|
Cleft Lip Without Cleft Palate, Unilateral
|
Isolated Cleft Lip, Unilateral
|
|
Cleft Lip Without Cleft Palate, Bilateral
|
Isolated Cleft Lip, Bilateral
|
|
|
| Folate Malabsorption, Hereditary |
|
Hereditary Folate Malabsorption
|
Congenital Defect Of Folate Absorption
|
|
Congenital Folate Malabsorption
|
Folic Acid Transport Defect
|
|
HFM
|
|
|
| Down Syndrome |
|
Trisomy 21
|
Complete Trisomy 21 Syndrome
|
|
Down'S Syndrome
|
Trisomy 21 Syndrome
|
|
Down'S Syndrome - Trisomy 21
|
Downs Syndrome
|
|
G Trisomy
|
47,Xx,+21
|
|
47,Xy,+21
|
Trisomy G
|
|
Down Syndrome, Susceptibility To
|
Chromosome 21 Trisomy
|
|
Trisomy 21 Nos
|
Abnormal Autosomes 21
|
|
|
| Childhood Osteosarcoma |
|
|
| Cone-Rod Dystrophy 2 |
|
Cone-Rod Dystrophy
|
CORD2
|
|
Cone-Rod Retinal Dystrophy
|
Rcrd2
|
|
Cone-Rod Retinal Dystrophy 2
|
Crd2
|
|
Cord
|
Crd
|
|
Retinal Cone-Rod Dystrophy
|
Cone-Rod Retinal Dystrophy-2
|
|
Retinal Cone-Rod Dystrophy 2
|
Tapetoretinal Degeneration
|
|
Cone-Rod Degeneration
|
Cone Rod Dystrophy
|
|
Dystrophy, Cone-Rod
|
Dystrophy, Cone-Rod, Type 2
|
|
Retinitis Pigmentosa
|
Retinitis Pigmentosa 2
|
|
Progressive Cone-Rod Dystrophy
|
|
|
| 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
|
|
|
| Leukemia, Acute Lymphoblastic |
|
Acute Lymphoblastic Leukemia
|
ALL
|
|
Acute Lymphocytic Leukemia
|
Leukemia, Acute Lymphocytic, Susceptibility To, 1
|
|
Acute Lymphoblastic Leukaemia
|
Precursor Lymphoblastic Lymphoma/Leukemia
|
|
Precursor Lymphoid Neoplasm
|
Leukemia, Acute Lymphoblastic, Susceptibility To
|
|
B-Cell Acute Lymphoblastic Leukemia
|
Leukemia, Acute Lymphocytic 1
|
|
Acute Lymphocytic Leukaemia
|
Acute Lymphoblastic Leukemia/Lymphoma
|
|
All1
|
Childhood Acute Lymphoblastic Leukemia
|
|
Leukemia Acute Lymphoblastic 1
|
Leukemia Acute Lymphoblastic B-Hyperdiploid
|
|
Leukemia Acute Lymphocytic
|
Leukemia Acute Lymphocytic 1
|
|
Leukemia B-Cell Acute Lymphoblastic
|
Leukemia T-Cell Acute Lymphoblastic
|
|
Leukemia, Acute Lymphoblastic, 3
|
ALL3
|
|
Lymphoblastic Leukemia Acute
|
Leukemia, Acute, Lymphoblastic
|
|
Precursor Cell Lymphoblastic Leukemia Lymphoma
|
Leukemia, Lymphocytic, Acute, L1
|
|
Leukemia, Acute Lymphoblastic, Susceptibility To, 3
|
|
|
| Subacute Leukemia |
|
|
| Rheumatoid Arthritis |
|
RA
|
Arthritis, Rheumatoid
|
|
Rheumatoid Arthritis, Susceptibility To
|
Arthritis Or Polyarthritis, Rheumatic
|
|
Atrophic Arthritis
|
Rheumatism Arthritis
|
|
Rheumatoid Polyarthritis
|
|
|
| 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
|
|
|
| Osteogenic Sarcoma |
|
Osteosarcoma
|
OSRC
|
|
Osteosarcoma, Somatic
|
Neoplasms, Bone Tissue
|
|
Bone Tissue Neoplasm
|
Osteoid Sarcoma
|
|
Skeletal Sarcoma
|
Osteosarcoma Of Bone
|
|
Bone Sarcoma
|
|
|
| Lung Cancer |
|
Lung Carcinoma
|
Non-Small Cell Lung Carcinoma
|
|
Lung Cancer, Susceptibility To
|
Lung Cancer, Protection Against
|
|
Adenocarcinoma Of Lung, Somatic
|
Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In
|
|
Nonsmall Cell Lung Cancer
|
Lung Neoplasm
|
|
Carcinoma Of Lung
|
Lung Non-Small Cell Carcinoma
|
|
Non-Small Cell Lung Cancer
|
Nsclc
|
|
Lung Neoplasms
|
Malignant Neoplasm Of Lung
|
|
Alveolar Cell Carcinoma
|
Nonsmall Cell Lung Cancer, Somatic
|
|
Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In
|
Nonsmall Cell Lung Cancer, Susceptibility To
|
|
Lung Cancer, Somatic
|
Lung Cancer, Resistance To
|
|
Cancer Of Lung
|
Cancer Of Bronchus
|
|
Cancer Of The Lung
|
Lung Malignancies
|
|
Lung Malignant Tumors
|
Malignant Lung Tumor
|
|
Malignant Tumor Of Lung
|
Pulmonary Cancer
|
|
Pulmonary Carcinoma
|
Pulmonary Neoplasms
|
|
Respiratory Carcinoma
|
LNCR
|
|
Adenocarcinoma Of Lung
|
Neoplasm Of Lung
|
|
Cancer Lung
|
Carcinoma Non-Small Cell Lung
|
|
Carcinoma, Non-Small-Cell Lung
|
Lung Cancers
|
|
Lung Carcinomas
|
Cancer, Lung
|
|
Cancer, Lung, Non-Small Cell
|
Primary Malignant Neoplasm Of Lung
|
|
Bronchioloalveolar Adenocarcinoma
|
|
|
| Male Infertility |
|
Infertility, Male
|
Infertility Male
|
|
Male Sterility
|
Absolute Infertility
|
|
|
| Cleft Palate, Isolated |
|
Cleft Palate
|
Isolated Cleft Palate
|
|
CPI
|
Cp
|
|
Palatoschisis
|
Cleft Palate Isolated
|
|
Uranostaphyloschisis
|
Congenital Fissure Of Palate
|
|
Cleft Of Secondary Palate
|
|
|
| Hemolytic Anemia |
|
Anemia, Hemolytic
|
Anemia Hemolytic
|
|
Anaemia Due To Other Disorders Of Glutathione Metabolism
|
Chronic Non Spherocytic Anaemia
|
|
G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia
|
Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency
|
|
Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia
|
Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia
|
|
Favism Anaemia
|
Haemolytic Anaemia Due Tog6pd Deficiency
|
|
Favism
|
Pentose Phosphate Pathway Disorder Anaemia
|
|
Anaemia Due To Pentose Phosphate Pathway Defect
|
|
|
| Autism Spectrum Disorder |
|
Asd
|
Autism Spectrum Disorders
|
|
Autistic Continuum
|
Pervasive Developmental Disorder
|
|
Pervasive Development Disorder
|
Autistic Behavior
|
|
Autistic Disorder
|
Autistic
|
|
Autistic Disorder Of Childhood Onset
|
Infantile Autism
|
|
Childhood Autism
|
Kanner Syndrome
|
|
Pervasive Developmental Delay Nos
|
Pervasive Developmental Disorder, Not Otherwise Specified
|
|
|
| Autism |
|
Autistic Disorder
|
Autism Susceptibility 1
|
|
Childhood Autism
|
Autistic Disorder Of Childhood Onset
|
|
Infantile Autism
|
Kanner'S Syndrome
|
|
Autistic
|
|
|
