| 疾病名称 |
别名 |
|
| Anemia, Sideroblastic, 1 |
|
Xlsa
|
X-Linked Sideroblastic Anemia
|
|
Hypochromic Anemia
|
Anh1
|
|
Hereditary Iron-Loading Anemia
|
Anemia, Sideroblastic, X-Linked
|
|
Anemia, Hereditary Sideroblastic
|
Erythroid 5-Aminolevulinate Synthase Deficiency
|
|
Hereditary Sideroblastic Anemia
|
SIDBA1
|
|
Anemia, Hypochromic
|
Sideroblastic Anemia 1
|
|
Anemia Hypochromic
|
X Chromosome-Linked Sideroblastic Anemia
|
|
Sideroblastic Anaemia 1
|
X-Linked Sideroblastic Anaemia
|
|
Anemia Hereditary Sideroblastic
|
Anemia Sex-Linked Hypochromic Sideroblastic
|
|
Congenital Sideroblastic Anemia
|
Sideroblastic Anemia X-Linked
|
|
Anemia, Sex-Linked Hypochromic Sideroblastic
|
Congenital Sideroblastic Anaemia
|
|
X-Linked Pyridoxine-Responsive Sideroblastic Anemia
|
Anemia Congenital Sideroblastic
|
|
Anemia, Sideroblastic, Type 1
|
Sex-Linked Hypochromic Sideroblastic Anaemia
|
|
Autosomal Recessive Sideroblastic Anaemia
|
Familial Sex Linked Hypochromic Anaemia
|
|
|
| Protoporphyria, Erythropoietic, X-Linked |
|
X-Linked Erythropoietic Protoporphyria
|
Protoporphyria, Erythropoietic, X-Linked Dominant
|
|
Xldpp
|
XLEPP
|
|
Erythrohepatic Protoporphyria, X-Linked
|
X-Linked Dominant Erythropoietic Protoporphyria
|
|
X-Linked Dominant Protoporphyria
|
Xlpp
|
|
Erythropoietic Protoporphyria, X-Linked Dominant
|
XLDPT
|
|
|
| X-Linked Protoporphyria |
|
|
| Sideroblastic Anemia |
|
Anemia Sideroblastic
|
Anemia, Sideroblastic
|
|
Anemia, Hypochromic With Iron Loading
|
|
|
| Pyridoxine-Responsive Sideroblastic Anemia |
|
|
| Microcytic Anemia |
|
Iron-Refractory Iron Deficiency Anemia
|
|
|
| Porphyria |
|
Hematoporphyria
|
Porphyrias
|
|
Disorder Of Porphyrin And Hem Metabolism
|
Disorder Of Porphyrin Metabolism
|
|
Porphyrinopathy
|
Porphyrin Disorder
|
|
Disorder Of Porphyrin And Heme Metabolism
|
Disorders Of Porphyrin Metabolism
|
|
|
| Wieacker-Wolff Syndrome |
|
Wieacker Syndrome
|
Contractures Of Feet, Muscle Atrophy, And Oculomotor Apraxia
|
|
WRWF
|
Apraxia, Oculomotor, With Congenital Contractures And Muscle Atrophy
|
|
Miles-Carpenter X-Linked Mental Retardation Syndrome
|
Mcs
|
|
Mrxs4
|
Intellectual Disability-Developmental Delay-Contractures Syndrome
|
|
Mental Retardation, X-Linked, Syndromic 4
|
Mental Retardation, X-Linked, With Congenital Contractures And Low Fingertip Arches
|
|
Wws
|
Wieacker Wolff Syndrome
|
|
Foot Contractures-Muscle Atrophy-Oculomotor Apraxia Syndrome
|
Wieacker-Wolf Syndrome
|
|
Oculomotor Apraxia With Congenital Contractures And Muscle Atrophy
|
|
|
| Cutaneous Porphyria |
|
Porphyria, Erythropoietic
|
Erythropoietic Porphyria
|
|
|
| Non-Syndromic X-Linked Intellectual Disability 81 |
|
|
| Erythroleukemia |
|
|
| Protoporphyria, Erythropoietic, 1 |
|
Erythropoietic Protoporphyria
|
Epp
|
|
Ferrochelatase Deficiency
|
Protoporphyria, Erythropoietic
|
|
Erythrohepatic Protoporphyria
|
Heme Synthetase Deficiency
|
|
Autosomal Erythropoietic Protoporphyria
|
EPP1
|
|
Protoporphyria
|
Protoporphyria Erythropoietic
|
|
|
| Macrocytic Anemia |
|
Anemia Macrocytic
|
Anemia, Macrocytic
|
|
Macrocytic Anaemia
|
|
|
| Deficiency Anemia |
|
Anemia
|
Deficiency Anemias
|
|
Anaemia
|
|
|
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
X-Linked Sideroblastic Anemia With Ataxia
|
ASAT
|
|
X-Linked Sideroblastic Anemia And Ataxia
|
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
|
|
Anemia, Sideroblastic, With Ataxia
|
Anemia Sideroblastic And Spinocerebellar Ataxia
|
|
Pagon Bird Detter Syndrome
|
Pagon-Bird-Detter Syndrome
|
|
Xlsa-A
|
X-Linked Sideroblastic Anaemia And Ataxia
|
|
X-Linked Sideroblastic Anaemia With Ataxia
|
Sideroblastic Anemia With Spinocerebellar Ataxia
|
|
Xlsa/A
|
Anemia, Sideroblastic, Spinocerebellar Ataxia
|
|
Sideroblastic Anemia And Ataxia
|
Anemia Sideroblastic, And Spinocerebellar Ataxia
|
|
|
| Porphyria Cutanea Tarda |
|
Hepatoerythropoietic Porphyria
|
HEP
|
|
Uroporphyrinogen Decarboxylase Deficiency
|
Pct
|
|
Pct, Type Ii
|
Porphyria, Hepatocutaneous Type
|
|
Urod Deficiency
|
Porphyria, Hepatoerythropoietic
|
|
Porphyria Cutanea Tarda, Susceptibility To
|
Familial Porphyria Cutanea Tarda
|
|
Porphyria Cutanea Tarda, Type Ii
|
Pct, 'Familial' Type
|
|
Porphyria, Hepatic
|
FPCT
|
|
Pct Type Ii
|
Porphyria Cutanea Tarda Type Ii
|
|
Porphyria Hepatocutaneous Type
|
Heterozygous Uroporphyrinogen Decarboxylase Deficiency
|
|
Urod - [Uroporphyrinogen Decarboxylase] Deficiency
|
Pct - [Porphyria Cutanea Tarda]
|
|
|
| Acute Porphyria |
|
Porphyrias, Hepatic
|
Hepatic Porphyria
|
|
Porphyria Hepatic
|
Acute Intermittent Porphyria
|
|
|
| Coproporphyria, Hereditary |
|
Hereditary Coproporphyria
|
Coproporphyria
|
|
Coproporphyrinogen Oxidase Deficiency
|
HCP
|
|
Cpo Deficiency
|
Cpox Deficiency
|
|
Cpx Deficiency
|
Hereditary Coproporphyria Porphyria
|
|
Cpro Deficiency
|
Coproporphyria Hereditary
|
|
Porphyria Hepatica Ii
|
Porphyria Hepatica Coproporphyria
|
|
Porphyria, Hereditary Coproporphyria
|
Harderoporphyria
|
|
|
| Carotenemia |
|
|
| Variegate Porphyria |
|
Porphyria Variegata
|
Protoporphyrinogen Oxidase Deficiency
|
|
VP
|
Ppox Deficiency
|
|
Porphyria, South African Type
|
Porphyria Variegata, Susceptibility To
|
|
Protocoproporphyria
|
Porphyria Variegate
|
|
Porphyria South African Type
|
Pv
|
|
Porphyria, Variegate
|
Vp - [Variegate Porphyria]
|
|
|
| Hypochromic Microcytic Anemia |
|
Anemia, Hypochromic Microcytic
|
Microcytic Hypochromic Anemia
|
|
|
| Porphyria, Acute Intermittent |
|
Acute Intermittent Porphyria
|
Porphobilinogen Deaminase Deficiency
|
|
Pbgd Deficiency
|
AIP
|
|
Porphyria, Swedish Type
|
Uroporphyrinogen Synthase Deficiency
|
|
Ups Deficiency
|
Porphyria, Acute Intermittent, Nonerythroid Variant
|
|
Hydroxymethylbilane Synthase Deficiency
|
Aip - Acute Intermittent Porphyria
|
|
Porphyria Intermittent Acute
|
Pyrroloporphyria
|
|
Hmbs Deficiency
|
Porphyria Acute Intermittent
|
|
|
| Hemochromatosis, Type 1 |
|
Hemochromatosis
|
Hemochromatosis Type 1
|
|
Hereditary Hemochromatosis
|
Hh
|
|
HFE1
|
Hfe Hemochromatosis, Modifier Of
|
|
Symptomatic Form Of Classic Hemochromatosis
|
Symptomatic Form Of Hemochromatosis Type 1
|
|
Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis
|
Haemochromatosis
|
|
Iron Storage Disorder
|
Bronze Diabetes
|
|
Hereditary Haemochromatosis
|
Hlah
|
|
Hfe
|
Hemochromatosis, Hereditary
|
|
Diabetes Bronze
|
Classic Hemochromatosis
|
|
Hfe-Associated Hereditary Hemochromatosis
|
Hemochromatosis Classic
|
|
Bronzed Cirrhosis
|
Familial Hemochromatosis
|
|
Genetic Hemochromatosis
|
Hc
|
|
Pigmentary Cirrhosis
|
Primary Hemochromatosis
|
|
Troisier-Hanot-Chauffard Syndrome
|
Von Recklenhausen-Applebaum Disease
|
|
Hemochromatosis 1
|
Primary Hereditary Hemochromatosis
|
|
Bronze Cirrhosis
|
|
|
| Hyperferritinemia With Or Without Cataract |
|
Hyperferritinemia-Cataract Syndrome
|
Hhcs
|
|
Hereditary Hyperferritinemia With Congenital Cataracts
|
Hyperferritinemia, Hereditary, With Congenital Cataracts
|
|
Bonneau-Beaumont Syndrome
|
HRFTC
|
|
Hereditary Hyperferritinemia-Cataract Syndrome
|
Cataract-Hyperferritinemia Syndrome
|
|
Hyperferritinemia Cataract Syndrome
|
Hereditary Hyperferritinemia Cataract Syndrome
|
|
|
| Pearson Marrow-Pancreas Syndrome |
|
Pearson Syndrome
|
Sideroblastic Anemia With Marrow Cell Vacuolization And Exocrine Pancreatic Dysfunction
|
|
Pearson'S Marrow/Pancreas Syndrome
|
Pearson'S Syndrome
|
|
Pearson'S Marrow-Pancreas Syndrome
|
|
|
| Acute Erythroid Leukemia |
|
Acute Erythroleukemia
|
Di Guglielmo'S Syndrome
|
|
Aml M6
|
Acute Myeloid Leukemia Fab-M6
|
|
Acute Myeloid Leukemia M6
|
Erythroleukemia
|
|
Aml-M6
|
Acute Erythroleukemia M6a Subtype
|
|
Acute Erythroleukemia M6b Subtype
|
Di Guglielmo Syndrome
|
|
Acute Myeloid Leukemia, M6 Type
|
Acute Erythroblastic Leukemia
|
|
Acute Erythroleukemia - M6a Subtype
|
Acute Erythroleukemia - M6b Subtype
|
|
Acute Erythraemia And Erythroleukaemia
|
Acute Erythroid Leukaemia Without Mention Of Remission
|
|
Erythraemia
|
Erythraemic Myelosis
|
|
Erythroleukaemia
|
Acute Erythraemic Myelosis
|
|
Acute Erythraemia
|
|
|
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
SIFD
|
Congenital Sideroblastic Anemia-B-Cell Immunodeficiency-Periodic Fever-Developmental Delay Syndrome
|
|
Sifd Syndrome
|
|
|
| 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
|
|
|
| Aplastic Anemia |
|
Aplastic Anemia, Susceptibility To
|
Anemia Aplastic
|
|
Idiopathic Aplastic Anemia
|
Secondary Aplastic Anemia
|
|
Idiopathic Bone Marrow Failure
|
Aplastic Anemia Idiopathic
|
|
AA
|
Anemia, Aplastic
|
|
Aplastic Anemia, Idiopathic
|
Erythroid Aplasia
|
|
Aa - [Aplastic Anaemia]
|
Haematopoietic Aplasia
|
|
Aleukia Haemorrhagica
|
Anaemia Due To Decreased Red Cell Production
|
|
Aplasia Bone Marrow
|
Aplastic Bone Marrow
|
|
Hypoplastic Anaemia Nos
|
Myeloid Bone Marrow Aplasia
|
|
Pancytopenia
|
Panhaematopenia
|
|
Hypoproliferative Anaemia
|
Medullary Hypoplasia
|
|
Red Blood Cells Hypoplastic Anaemia
|
Panmyelophthisis
|
|
Panhemocytopenia
|
Refractive Hypoproliferative Anaemia
|
|
Toxic Anaemia
|
Toxic Aplastic Anaemia
|
|
Aplastic Anaemia Due To Toxic Cause
|
Idiopathic Aplastic Anaemia Nos
|
|
|
| Hemoglobinopathy |
|
|
| Non-Syndromic X-Linked Intellectual Disability |
|
X-Linked Non-Syndromic Intellectual Disability
|
Non-Specific X-Linked Mental Retardation
|
|
X-Linked Non-Specific Intellectual Disability
|
|
|
| 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
|
|
|
