疾病名称 |
别名 |
|
Wiedemann-Steiner Syndrome |
WDSTS
|
Hairy Elbows, Short Stature, Facial Dysmorphism, And Developmental Delay
|
Hypertrichosis-Short Stature-Facial Dysmorphism-Developmental Delay Syndrome
|
Wiedemann Grosse Dibbern Syndrome
|
Kmt2a-Related Neurodevelopmental Disorder
|
Hairy Elbows Short Stature Facial Dysmorphism And Developmental Delay
|
Hypertrichosis Cubiti Facial Dysmorphism And Developmental Delay
|
Wss
|
Growth Deficiency And Mental Retardation With Facial Dysmorphism
|
|
|
Acute Myeloid Leukemia With T(9;11)(P22;Q23) |
Aml With T(9
|
11)(P22
|
Q23)
|
|
|
Acute Megakaryocytic Leukemia |
Acute Megakaryoblastic Leukemia
|
Acute Megakaryoblastic Leukaemia
|
Megakaryocytic Myelosis
|
Thrombocytic Leukaemia
|
Amkl
|
Aml M7
|
Acute Myeloblastic Leukemia Type 7
|
Acute Myeloid Leukemia M7
|
Megakaryoblastic Leukemia Acute
|
Leukemia, Megakaryoblastic, Acute
|
Acute Myeloid Leukaemia, M7
|
Acute Megakaryocytic Leukaemia
|
Acute Megakaryoblastic Leukaemia, Fab M7
|
Fab M7
|
Malignant Megakaryocytosis
|
M7 - Acute Megakaryoblastic Leukaemia
|
Megakaryoblastic Leukaemia
|
Megakaryocytic Leukaemia
|
Acute Megakaryoblastic Leukaemia, Nos
|
Acute Megakaryoblastic Leukaemia Without Mention Of Remission
|
|
|
Mixed Phenotype Acute Leukemia With T |
Mpal With T
|
Kmt2a Rearranged
|
Mpal With T
|
Mll Rearranged
|
|
|
Mixed Phenotype Acute Leukemia With T(9;22)(Q34.1;Q11.2) |
Mpal With T(9
|
22)(Q34.1
|
Q11.2)
|
Bcr-Abl1
|
|
|
Rare Genetic Intellectual Disability |
|
|
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
|
|
|
Acute Megakaryoblastic Leukemia Without Down Syndrome |
|
|
Acute Biphenotypic Leukemia |
Mixed Phenotype Acute Leukemia
|
Acute Leukemia Of Ambiguous Lineage
|
Acute Undifferentiated Leukemia
|
Acute Leukemia Of Indeterminate Lineage
|
Hybrid Acute Leukemia
|
Mixed Lineage Acute Leukemia
|
All With Myeloid Markers
|
Aml With Lymphoid Markers
|
Acute Leukemia Of Undetermined Lineage
|
Bal
|
Biphenotypic Acute Leukemia
|
Undifferentiated Acute Leukemia
|
Mpal
|
Acute Myeloid Leukemia, Minimal Differentiation, Fab M0
|
Leukemia, Biphenotypic, Acute
|
|
|
Cornelia De Lange Syndrome 1 |
De Lange Syndrome
|
CDLS1
|
Cdl
|
Cdls
|
Typus Degenerativus Amstelodamensis
|
Brachmann-De Lange Syndrome
|
Bdls
|
Amstelodamensis Typus Degenerativus
|
Cornelia De Lange Syndrome, Type 1
|
|
|
Cornelia De Lange Syndrome |
De Lange Syndrome
|
Brachmann De Lange Syndrome
|
Brachmann-De Lange Syndrome
|
Cdls
|
Bdls
|
Typus Degenerativus Amstelodamensis
|
|
|
Microcephaly |
Microencephaly
|
Microcephalus
|
Microcephalic
|
Nanocephaly
|
Congenital Microcephaly
|
Brain Hypoplasia
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
Micrencephalon
|
Micrencephaly
|
|
|
Autism |
Autistic Disorder
|
Autism Susceptibility 1
|
Childhood Autism
|
Autistic Disorder Of Childhood Onset
|
Infantile Autism
|
Kanner'S Syndrome
|
Autistic
|
|
|
B-Lymphoblastic Leukemia/Lymphoma With Recurrent Genetic Abnormality |
|
|
Acute Leukemia |
Stem Cell Leukaemia
|
Stem Cell Leukemia
|
Acute Leukemias
|
Acute Undifferentiated Leukemia
|
Undifferentiated Leukemia
|
Acute Leukaemia Of Unspecified Cell Type Without Mention Of Remission
|
Blast Cell Leukaemia
|
Blast Leukaemia
|
Blastic Leukaemia
|
Undifferentiated Leukaemia
|
|
|
Acute Myeloid Leukemia With Mll Rearrangement |
Acute Myeloid Leukemia With Kmt2a/Mll Rearrangement
|
Acute Myeloid Leukemia, 11q23 Abnormalities
|
Acute Myeloid Leukemia With 11q23 Abnormalities
|
Aml With 11q23 Abnormalities
|
|
|
Chronic Neutrophilic Leukemia |
Cnl
|
Leukemia Neutrophilic Chronic
|
|
|
Rubinstein Taybi Like Syndrome |
Broad Terminal Phalanges Of The Thumbs And Great Toes, Antimongoloid Slant Of The Palpebral Fissures, And Characteristic Beaked Noses
|
|
|
Hairy Elbows |
Hypertrichosis Cubiti
|
Hairy Elbows Syndrome
|
Macdermot-Patton-Williams Syndrome
|
|
|
B-Lymphoblastic Leukemia/Lymphoma |
B Lymphoblastic Leukemia/Lymphoma
|
B-All
|
Precursor B Lymphoblastic Lymphoma/Leukemia
|
C-All
|
Lymphoblastic Lymphoma, Nos
|
Common Precursor B All
|
Lymphoblastic B-Cell Lymphoma
|
Pro-B All
|
B-Precursor Lymphoma
|
Lbl - [Lymphoblastic Lymphoma]
|
|
|
Leukemia, Acute Monocytic |
Acute Monocytic Leukemia
|
Acute Monoblastic Leukemia And Acute Monocytic Leukemia
|
Acute Monocytic Leukaemia
|
Acute Monocytic Leukaemia Without Mention Of Remission
|
Acute Monocytic Leukemia Without Mention Of Remission
|
Acute Monocytic Leukemia, Fab M5
|
Acute Monocytic Leukemia, Morphology
|
Leukemia, Monocytic, Acute
|
M5b Acute Differentiated Monocytic Leukemia
|
|
|
Hypertrichosis |
|
|
Leukemia |
Leukemias
|
Leukaemia, Unspecified, Without Mention Of Remission
|
Aleukemic Leukaemia
|
Chronic Leukaemia
|
Subacute Leukaemia
|
Leukaemia Disorder
|
Leukaemia Nos
|
|
|
Acute Myelomonocytic Leukemia |
Acute Myeloid Leukemia With Abnormal Bone Marrow Eosinophils Inv(16)(P13q22) Or T(16
|
16)(P13
|
Q22)
|
Aml M4
|
Ammol
|
Acute Myeloblastic Leukemia Type 4
|
Aml With Abnormal Bone Marrow Eosinophils Inv(16)(P13q22) Or T(16
|
16)(P13
|
Q22)
|
Aml-M4
|
Aml With Inv(16)(P13.1q22) Or T(16
|
16)(P13.1
|
Q22)
|
Cbfb-Myh11
|
Leukemia Myelomonocytic Acute
|
Leukemia, Myelomonocytic, Acute
|
Acute Myelomonocytic Leukaemia Without Mention Of Remission
|
Myelomonocytic Leukaemia Nos
|
|
|
Chronic Fungal Otitis Externa |
Chronic Mycotic Otitis Externa
|
|
|
Chromosomal Triplication |
|
|
Childhood Acute Lymphocytic Leukemia |
Childhood Acute Lymphoblastic Leukemia
|
Childhood All
|
Pediatric Acute Lymphoblastic Leukemia
|
Lymphoblastic Leukemia Acute Childhood
|
|
|
Myeloid Sarcoma |
Granulocytic Sarcoma
|
Chloroma
|
Extramedullary Myeloid Tumor
|
Sarcoma, Granulocytic
|
Sarcoma Granulocytic
|
Sarcoma, Myeloid
|
Myelosarcoma
|
Myeloid Sarcoma Disease
|
Myeloid Sarcoma Nos
|
Myeloid Sarcoma Without Mention Of Remission
|
|
|
Hematologic Cancer |
Hematologic Neoplasm
|
Hematologic Neoplasms
|
Hematologic Malignancies
|
Blood Cancer
|
Hematologic Malignancy
|
Hematological Tumors
|
Hematopoietic And Lymphoid System Tumor
|
Hematopoietic Cancer
|
Hematopoietic Neoplasm
|
Hematopoietic Tumors
|
Malignant Hematopoietic Neoplasm
|
Liquid Tumor
|
Hematopoietic Neoplasms
|
|
|
Myeloid Leukemia |
Myeloid Leukaemia
|
Leukaemia Myelogenous
|
Leukemia Myelogenous
|
Myeloid Granulocytic Leukaemia
|
Myeloid Granulocytic Leukemia
|
Non-Lymphocytic Leukemia
|
Leukemia, Myeloid
|
Granulocytic Leukaemia
|
Myelogenous Leukaemia
|
Myeloid Leukaemia, Unspecified, Without Mention Of Remission
|
|
|
Myelodysplastic Syndrome |
Myelodysplastic Syndromes
|
Myelodysplasia
|
MDS
|
Myelodysplastic Syndrome Included
|
Myelodysplastic Syndrome, Susceptibility To, Included
|
Myelodysplastic Syndrome, Somatic
|
Myelodysplastic Syndrome, Susceptibility To
|
|
|
Childhood Leukemia |
|
|
Neonatal Leukemia |
|
|
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
|
|
|
Testicular Leukemia |
|
|
Monocytic Leukemia |
Monocytic Leukaemia
|
Schilling'S Leukaemia
|
Schilling'S Leukemia
|
M5b Acute Differentiated Monocytic Leukemia
|
|
|
Childhood Acute Myeloid Leukemia |
Childhood Acute Myeloid Leukaemia
|
Paediatric Acute Myeloid Leukaemia
|
Pediatric Acute Myeloid Leukemia
|
|
|
Lymphoblastic Lymphoma |
Lymphoma, Lymphoblastic
|
Lymphoma Lymphoblastic
|
Precursor Cell Lymphoblastic Lymphoma
|
Precursor Cell Lymphoblastic Leukemia Lymphoma
|
|
|
Familial Isolated Trichomegaly |
|
|
Central Nervous System Leukemia |
|
|
B-Lymphoblastic Leukemia/Lymphoma With Bcr-Abl1 |
B-All With Bcr-Abl1
|
B-Lymphoblastic Leukemia/Lymphoma With T(9
|
22)(Q34.1
|
Q11.2)
|
Bcr-Abl1
|
B Lymphoblastic Leukemia/Lymphoma With T(9
|
22)(Q34.1
|
Q11.2)
|
Bcr-Abl1
|
|
|
Intellectual Developmental Disorder, Autosomal Dominant 10 |
MRD10
|
Mental Retardation, Autosomal Dominant 10
|
Autosomal Dominant Non-Syndromic Intellectual Disability 10
|
Autosomal Dominant Intellectual Developmental Disorder 10
|
Autosomal Dominant Mental Retardation 10
|
Mental Retardation, Autosomal Dominant, Type 10
|
|
|
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
|
|
|
Mixed Phenotype Acute Leukemia, T/Myeloid |
|
|
Bladder Urothelial Carcinoma |
Bladder Transitional Cell Carcinoma
|
Transitional Cell Carcinoma Of Bladder
|
Transitional Cell Carcinoma Of The Bladder
|
Urinary Bladder Urothelial Carcinoma
|
Urothelial Bladder Carcinoma
|
Carcinoma Transitional Cell Bladder
|
Tcc - [Transitional Cell Carcinoma] Of Bladder
|
|
|
Pancytopenia |
|
|
Childhood Acute Megakaryoblastic Leukemia |
Pediatric Non-Down Syndrome Acute Megakaryoblastic Leukemia
|
|
|
Precursor T-Cell Acute Lymphoblastic Leukemia |
T-All
|
Precursor T-Cell Acute Lymphoblastic Leukemia/Lymphoma
|
Precursor T-Cell Acute Lymphocytic Leukemia
|
Precursor T-Cell Acute Lymphocytic Leukemia/Lymphoma
|
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
|
Adult T-Cell Lymphoma/Leukemia
|
|
|
Syndromic X-Linked Intellectual Disability Nascimento Type |
Mental Retardation, X-Linked Syndromic, Nascimento-Type
|
X-Linked Intellectual Disability-Nail Dystrophy-Seizures Syndrome
|
|
|
Mixed Phenotype Acute Leukemia, B/Myeloid |
|
|
Non-Syndromic X-Linked Intellectual Disability 93 |
Mrx93
|
X-Linked Mental Retardation With Macrocephaly
|
|
|
Kbg Syndrome |
KBGS
|
Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies
|
Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, And Skeletal Anomalies
|
Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies
|
Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome
|
Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome
|
|
|
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
|
|
|
Adult Acute Lymphocytic Leukemia |
Adult Acute Lymphoid Leukemia
|
Adult All
|
|
|
Myeloproliferative Neoplasm |
Myeloproliferative Disorder
|
Chronic Myeloproliferative Disease
|
Myeloproliferative Neoplasms
|
Chronic Myeloproliferative Disorder
|
Cmpd
|
Cmpd, U
|
Chronic Myeloproliferative Disorders
|
Mpd
|
Mpn
|
Myeloproliferative Disorders
|
Myeloproliferative Disease
|
Campomelic Dysplasia
|
|
|
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
|
|
|
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
|
|
|
Myeloproliferative Syndrome, Transient |
Transient Abnormal Myelopoiesis
|
Transient Myeloproliferative Syndrome
|
Transient Myeloproliferative Disease
|
Mst
|
Tam
|
Leukemia, Transient, Of Down Syndrome
|
Tmd
|
Leukemia, Transient
|
Transient Leukemia
|
Transient Leukemia Of Down Syndrome
|
|
|
Leukemia, Chronic Myeloid |
Chronic Myeloid Leukemia
|
Chronic Myelogenous Leukemia
|
CML
|
Chronic Granulocytic Leukemia
|
Leukemia, Philadelphia Chromosome-Positive, Resistant To Imatinib
|
Chronic Myeloid Leukaemia
|
Chronic Granulocytic Leukaemia
|
Chronic Myelogenous Leukaemia
|
Myeloid Leukemia, Chronic
|
Leukemia, Chronic Myelogenous
|
Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic
|
Cml - Chronic Myelogenous Leukemia
|
Cgl
|
Chronic Myelocytic Leukemia
|
Leukemia, Chronic Myeloid, Atypical
|
ACML
|
Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative
|
Myeloid Leukemia Chronic
|
Leukemia, Myeloid, Chronic
|
Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative
|
Cml- [Chronic Myeloid Leukaemia]
|
Cgl - [Chronic Granulocytic Leukaemia]
|
Chronic Myelocytic Leukaemia
|
|
|
Lymphoma, Non-Hodgkin, Familial |
Non-Hodgkin Lymphoma
|
Lymphoma, Non-Hodgkin
|
NHL
|
Lymphoma, Non-Hodgkin, Somatic
|
Lymphoma, Follicular, Somatic
|
Familial Non-Hodgkin Lymphoma
|
Lymphoma Non-Hodgkins
|
Follicular Lymphoma, Somatic
|
Lymphosarcoma
|
Non-Hodgkins Lymphoma
|
|
|
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
|
|
|
Colon Leiomyoma |
|
|
Juvenile Myelomonocytic Leukemia |
Leukemia, Juvenile Myelomonocytic
|
JMML
|
Leukemia, Juvenile Myelomonocytic, Somatic
|
Juvenile Chronic Myelomonocytic Leukemia
|
Juvenile Chronic Myelogenous Leukemia
|
Leukemia, Myelomonocytic, Juvenile
|
Juvenile Myelomonocytic Leukaemia Without Mention Of Remission
|
|
|
Leukemia, Chronic Lymphocytic |
Chronic Lymphocytic Leukemia
|
B-Cell Chronic Lymphocytic Leukemia
|
CLL
|
B-Cell Chronic Lymphoid Leukemia
|
Chronic Lymphatic Leukemia
|
Chronic Lymphocytic Leukaemia
|
Lymphoplasmacytic Leukemia
|
Small Lymphocytic Lymphoma
|
Leukemia, Chronic Lymphatic
|
B-Cell Chronic Lymphocytic Leukaemia
|
Chronic Lymphatic Leukaemia
|
Lymphoplasmacytic Leukaemia
|
B Cell Chronic Lymphocytic Leukemia
|
Chronic B-Cell Lymphocytic Leukemia
|
Leukemia, Lymphocytic, Chronic
|
B-Cll
|
Chronic Lymphoid Leukemia
|
Leukemia Lymphocytic Chronic
|
Lymphoma Small Lymphocytic
|
Leukemia, Lymphocytic, Chronic, B-Cell
|
|
|
Syndromic Intellectual Disability |
|
|