| 疾病名称 |
别名 |
|
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Congenital Dyserythropoietic Anemia Type Ii
|
CDAN2
|
|
Cda Ii
|
Hereditary Erythroblastic Multinuclearity With Positive Acidified-Serum Test
|
|
Cda Type Ii
|
Congenital Dyserythropoietic Anemia Type 2
|
|
Hereditary Erythroblastic Multinuclearity With A Positive Acidified-Serum Test
|
Sec23b-Cdg
|
|
Congenital Dyserythropoietic Anemia, Type Ii
|
Dyserythropoietic Anemia, Hempas Type
|
|
Hempas
|
Cda Type 2
|
|
Dyserythropoietic Anemia, Congenital, Type Ii
|
Cda, Type Ii
|
|
Congenital Dyserythropoietic Anaemia Type 2
|
Congenital Dyserythropoietic Anaemia Type Ii
|
|
Anemia, Dyserythropoietic, Congenital Type 2
|
Hempas Anemia
|
|
Dyserythropoietic Anemia, Congenital Type 2
|
Anemia, Congenital Dyserythropoietic, 2
|
|
Dyserythropoietic Anemia Hempas Type
|
Anemia, Dyserythropoietic Congenital, Type Ii
|
|
Anemia, Dyserythropoietic, Congenital, Type Ii
|
|
|
| Cowden Syndrome 7 |
|
|
| Cowden Syndrome |
|
Cowden Disease
|
Multiple Hamartoma Syndrome
|
|
Cowden'S Disease
|
Lhermitte-Duclos Disease
|
|
Cd
|
Cs
|
|
Mham
|
Dysplastic Gangliocytoma Of Cerebellum
|
|
Cowden'S Syndrome
|
Hamartoma Syndrome, Multiple
|
|
|
| Congenital Dyserythropoietic Anemia |
|
Congenital Dyshaematopoietic Anaemia
|
Dyserythropoietic Anemia, Congenital
|
|
Cda
|
Anemia, Dyserythropoietic, Congenital
|
|
Anemia Dyserythropoietic Congenital
|
Cda - [Congenital Dyserythropoietic Anaemia]
|
|
Dyserythropoietic Dyshaematopoietic Congenital Anaemia
|
Dyshaematopoietic Anaemia
|
|
Dyserythropoietic Anaemia
|
|
|
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Congenital Dyserythropoietic Anemia Type I
|
Cda I
|
|
CDAN1A
|
Congenital Dyserythropoietic Anemia Type 1
|
|
Congenital Dyserythropoietic Anemia Type Ia
|
Congenital Dyserythropoietic Anemia, Type I
|
|
Anemia, Congenital Dyserythropoietic, Type I
|
Cda Type 1
|
|
Cda Type I
|
Cda Ia
|
|
Dyserythropoietic Anemia, Congenital Type 1
|
Anemia, Congenital Dyserythropoietic, Type 1a
|
|
Dyserythropoietic Anemia, Congenital, Type Ia
|
Cda, Type Ia
|
|
Congenital Dyserythropoietic Anaemia Type 1
|
Congenital Dyserythropoietic Anaemia Type I
|
|
Anemia, Dyserythropoietic, Congenital Type 1
|
Type I Congenital Dyserythropoietic Anemia
|
|
Anemia, Congenital Dyserythropoietic, 1a
|
Anemia, Dyserythropoietic, Congenital, Type Ia
|
|
|
| Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Congenital Dyserythropoietic Anemia, Type Iii
|
Cdan3
|
|
Congenital Dyserythropoietic Anemia Type Iii
|
Cda Iii
|
|
Congenital Dyserythropoietic Anemia Type 3
|
CDAN3A
|
|
Dyserythropoietic Anemia, Congenital, Type Iiia
|
Cda, Type Iiia
|
|
Anemia, Congenital Dyserythropoietic, Type Iii
|
Anemia With Multinucleated Erythroblasts
|
|
Cda Type 3
|
Cda Type Iii
|
|
Dyserythropoietic Anemia, Congenital Type 3
|
Cda, Type Iii
|
|
Erythroreticulosis, Hereditary Benign
|
Anaemia With Multinucleated Erythroblasts
|
|
Congenital Dyserythropoietic Anaemia Type 3
|
Congenital Dyserythropoietic Anaemia Type Iii
|
|
Hereditary Benign Erythroreticulosis
|
Anemia, Congenital Dyserythropoietic, 3a
|
|
Anemia With Multinucleated Erythroblasts Erythroreticulosis, Hereditary Benign
|
|
|
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
CDAN1B
|
Congenital Dyserythropoietic Anemia Type Ib
|
|
Cda, Type Ib
|
Congenital Dyserythropoietic Anemia Type Type 1b
|
|
Dyserythropoietic Anemia, Congenital, Type Ib
|
Anemia, Congenital Dyserythropoietic, 1b
|
|
Cda Ib
|
Anemia, Dyserythropoietic, Congenital
|
|
Anemia, Dyserythropoietic, Congenital, Type Ib
|
|
|
| Craniolenticulosutural Dysplasia |
|
Boyadjiev-Jabs Syndrome
|
CLSD
|
|
Cranio-Lenticulo-Sutural Dysplasia
|
Cranio-Lenticulo-Sutural Dysplasia, Clsd
|
|
|
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
CDAN4
|
Congenital Dyserythropoietic Anemia Type Iv
|
|
Congenital Dyserythropoietic Anemia Type 4
|
Cda Iv
|
|
Cda Due To Klf1 Mutation
|
Cda Type 4
|
|
Cda Type Iv
|
Congenital Dyserythropoietic Anemia Due To Klf1 Mutation
|
|
Cda, Type Iv
|
Dyserythropoietic Anemia, Congenital, Type Iv
|
|
Congenital Dyserythropoietic Anaemia Due To Klf1 Mutation
|
Congenital Dyserythropoietic Anaemia Type 4
|
|
Congenital Dyserythropoietic Anaemia Type Iv
|
Anemia, Congenital Dyserythropoietic, 4
|
|
Anemia, Dyserythropoietic Congenital, Type Iv
|
Anemia, Dyserythropoietic, Congenital, Type Iv
|
|
|
| Cowden Syndrome 1 |
|
Bannayan-Riley-Ruvalcaba Syndrome
|
Pten Hamartoma Tumor Syndrome
|
|
Lhermitte-Duclos Disease
|
Bannayan-Zonana Syndrome
|
|
Phts
|
Riley-Smith Syndrome
|
|
Bzs
|
Ruvalcaba-Myhre-Smith Syndrome
|
|
Multiple Hamartoma Syndrome
|
Rmss
|
|
Brrs
|
Dysplastic Gangliocytoma Of The Cerebellum
|
|
CWS1
|
Cs
|
|
Cd
|
Mham
|
|
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
|
Macrocephaly Multiple Lipomas And Hemangiomata
|
|
Bannayan-Ruvalcaba-Riley Syndrome
|
Myhre-Riley-Smith Syndrome
|
|
LDD
|
Cerebelloparenchymal Disorder Vi
|
|
Hamartoma Syndrome, Multiple
|
Bbrs
|
|
Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata
|
Macrocephaly, Multiple Lipomas, And Hemangiomata
|
|
Macrocephaly Pseudopapilledema And Multiple Hemangiomas
|
Ruvalcaba -Myhre-Smith Syndrome
|
|
Ruvalcaba-Myhre Syndrome
|
Cowden Disease
|
|
Macrocephaly Pseudopapilledema And Multiple Hemangiomata
|
Cerebellar Granule Cell Hypertrophy And Megalencephaly
|
|
Cpd6
|
Pten Hamartoma Tumor Syndromes
|
|
Cowden Syndrome, Type 1
|
|
|
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
X-Linked Dyserythropoietic Anemia
|
X-Linked Dyserythropoietic Anemia With Abnormal Platelets And Neutropenia
|
|
XLANP
|
Anemia, X-Linked, With/Without Neutropenia And/Or Platelet Abnormalities
|
|
X-Linked Anemia With/Without Neutropenia And/Or Platelet Abnormalities
|
Anemia Without Thrombocytopenia, X-Linked
|
|
XLAWT
|
Anemia X-Linked With Variable Neutropenia
|
|
|
| Congenital Hemolytic Anemia |
|
Anemia Hemolytic Congenital
|
Anemia, Hemolytic, Congenital
|
|
Congenital Hemolytic Anaemia
|
Hereditary Hemolytic Anaemia
|
|
Hereditary Hemolytic Anemia
|
|
|
| Immunodeficiency 51 |
|
IMD51
|
Candf5
|
|
Candidiasis, Familial, 5
|
Candidiasis, Familial, 5, Formerly
|
|
Candf5, Formerly
|
Familial Candidiasis 5
|
|
Candidiasis Familial 5 Autosomal Recessive
|
Candidiasis Familial Chronic Mucocutaneous Autosomal Recessive
|
|
Chronic Mucocutaneous Candidiasis 5
|
|
|
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Spondyloepiphyseal Dysplasia Tarda
|
X-Linked Spondyloepiphyseal Dysplasia Tarda
|
|
SEDT
|
Sed Tarda, X-Linked
|
|
Spondyloepiphyseal Dysplasia, Late
|
Spondyloepiphyseal Dysplasia Tarda X-Linked
|
|
Sed
|
X Linked Spondyloepiphyseal Dysplasia Tarda
|
|
X-Linked Spondyloepiphyseal Dysplasia
|
Late Onset Spondyloepiphyseal Dysplasia
|
|
Sed Tarda
|
X-Linked Sed
|
|
X-Linked Sedt
|
Dysplasia, Spondyloepiphyseal, Tarda
|
|
Spondyloepiphyseal Dysplasia
|
|
|
| Developmental And Epileptic Encephalopathy 50 |
|
DEE50
|
Epileptic Encephalopathy, Early Infantile, 50
|
|
Eiee50
|
Developmental And Epileptic Encephalopathy, 50
|
|
Congenital Disorder Of Glycosylation, Type Iz, Formerly
|
Cdg1z, Formerly
|
|
Carbohydrate Deficient Glycoprotein Syndrome Type Iz
|
Cdg Syndrome Type Iz
|
|
Cdg-Iz
|
Congenital Disorder Of Glycosylation Type 1z
|
|
Early Infantile Epileptic Encephalopathy 50
|
Cdg1z
|
|
Congenital Disorder Of Glycosylation 1z
|
Encephalopathy, Epileptic, Early Infantile,, Type 50
|
|
|
| Pyruvate Kinase Deficiency Of Red Cells |
|
Pyruvate Kinase Deficiency
|
Pk Deficiency
|
|
Pyruvate Kinase Deficiency Of Erythrocyte
|
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
|
|
Pyruvate Kinase Deficiency Of Erythrocytes
|
Pkd
|
|
PKRD
|
Hereditary Non-Spherocytic Hemolytic Anemia Due To Pyruvate Kinase Deficiency
|
|
Hnsha
|
Pyruvate Kinase-Deficient Hemolytic Anemia
|
|
Red Cell Pyruvate Kinase Deficiency
|
Deficiency Of Pyruvate Kinase
|
|
Anemia, Hemolytic, Congenital Nonspherocytic
|
|
|
| Gastroduodenitis |
|
|
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Familial Hemophagocytic Lymphohistiocytosis 2
|
FHL2
|
|
Hplh2
|
Hlh2
|
|
Hemophagocytic Lymphohistiocytosis, Familial, 2, Susceptibility To
|
Lymphohistiocytosis, Hemophagocytic, Familial, Type 2
|
|
|
| Chylomicron Retention Disease |
|
CMRD
|
Anderson Disease
|
|
Lipid Transport Defect Of Intestine
|
Hypobetalipoproteinemia With Accumulation Of Apolipoprotein B-Like Protein In Intestinal Cells
|
|
Andd
|
Anderson Syndrome
|
|
Crd
|
Andersons Disease
|
|
Malabsorption Syndrome
|
|
|
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Posterior Polymorphous Corneal Dystrophy
|
Ppcd
|
|
Maumenee Corneal Dystrophy
|
Posterior Polymorphous Corneal Dystrophy 1
|
|
PPCD1
|
Corneal Dystrophy, Hereditary Polymorphous Posterior
|
|
Corneal Endothelial Dystrophy 1, Autosomal Dominant
|
Schlichting Dystrophy
|
|
Ched1
|
Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly
|
|
Ched1, Formerly
|
Hereditary Polymorphus Posterior Corneal Dystrophy
|
|
Posterior Polymorphous Dystrophy
|
Hereditary Polymorphous Posterior Corneal Dystrophy
|
|
Dystrophy, Corneal, Posterior Polymorphous
|
Dystrophy, Corneal, Posterior Polymorphous, Type 1
|
|
Polymorphous Corneal Dystrophy
|
Corneal Endothelial Dystrophy 2
|
|
|
| Erythrocytosis, Familial, 6 |
|
ECYT6
|
Erythrocytosis 6
|
|
Familial Erythrocytosis 6
|
Erythrocytosis, Beta-Globin Type
|
|
Polycythemia, Beta-Globin Type
|
Beta-Globin Type Erythrocytosis
|
|
Beta-Globin Type Polycythemia
|
|
|
| Dicer1 Syndrome |
|
Pleuro-Pulmonary Blastoma Familial Tumor Susceptibility Syndrome
|
Pleuropulmonary Blastoma Familial Tumor Susceptibility Syndrome
|
|
Ppb Familial Tumor Susceptibility Syndrome
|
Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome
|
|
Pleuro-Pulmonary Blastoma Familial Tumor Susceptibility
|
Dicer1-Related Pleuropulmonary Blastoma
|
|
Pleuropulmonary Blastoma Familial Tumor And Dysplasia Syndrome
|
Pleuropulmonary Blastoma Family Tumor Susceptibility Syndrome
|
|
Ppbftds
|
Doid:0081063
|
|
|
| Hereditary Spherocytosis |
|
Congenital Spherocytic Hemolytic Anemia
|
Spherocytic Anemia
|
|
Congenital Spherocytosis
|
Spherocytosis, Type 1
|
|
Minkowski Chauffard Syndrome
|
Hs
|
|
Minkowski-Chauffard Disease
|
Minkowski-Chauffard Syndrome
|
|
Spherocytosis Hereditary
|
Spherocytosis, Hereditary
|
|
Anemia, Hereditary Spherocytic Hemolytic
|
|
|
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Dehydrated Hereditary Stomatocytosis
|
Hereditary Xerocytosis
|
|
Xerocytosis, Hereditary
|
Pshk1
|
|
Pseudohyperkalemia Edinburgh
|
Dehydrated Hereditary Stomatocytosis With Or Without Pseudohyperkalemia And/Or Perinatal Edema
|
|
DHS1
|
Dhs
|
|
Hereditary Desiccytosis
|
Dehydrated Hereditary Stomatocytosis 1
|
|
Desiccytosis, Hereditary
|
Pseudohyperkalemia, Familial, 1, Due To Red Cell Leak
|
|
Pseudohyperkalemia Familial 1, Due To Red Cell Leak
|
Desiccytosis Hereditary
|
|
Xerocytosis Hereditary
|
Familial Pseudohyperkalemia 1 Due To Red Cell Leak
|
|
Stomatocytosis, Dehydrated, Hereditary, With/Without Pseudohyperkalemia And/Or Perinatal Edema
|
Xerocytosis
|
|
|
| Erythrocytosis, Familial, 1 |
|
ECYT1
|
Pfcp
|
|
Primary Familial And Congenital Polycythemia
|
Familial Erythrocytosis 1
|
|
Familial Erythrocytosis
|
Polycythemia, Primary Familial And Congenital
|
|
Autosomal Dominant Benign Erythrocytosis
|
Familial Erythrocytosis Type 1
|
|
Congenital Erythrocytosis Due To Erythropoietin Receptor Mutation
|
Congenital Polycythemia Due To Erythropoietin Receptor Mutation
|
|
Primary Congenital Erythrocytosis
|
Primary Familial Polycythemia
|
|
Erythrocytosis, Autosomal Dominant Benign
|
Erythrocytosis, Somatic
|
|
Autosomal Dominant Familial Erythrocytosis-1
|
Erythrocytosis Autosomal Dominant Benign
|
|
Familial Primary Polycythemia
|
Familial Erythrocytosis, 1
|
|
Erythrocytosis, Familial, Type 1
|
|
|
| Hereditary Elliptocytosis |
|
Congenital Elliptocytosis
|
Ovalocytosis
|
|
Elliptocytosis, Hereditary
|
He
|
|
Elliptocytosis Hereditary
|
Congenital Ovalocytosis
|
|
Elliptocytosis
|
Hereditary Elliptocytosis With Infantile Poikilocytosis
|
|
Hereditary Ovalocytosis
|
Oval Erythrocytosis
|
|
He - [Hereditary Elliptocytosis]
|
Elliptocytosis Anaemia
|
|
|
| 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
|
|
|
| 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
|
|
|
