| 疾病名称 |
别名 |
|
| Friedreich Ataxia |
|
Friedreich Ataxia 1
|
FRDA
|
|
Friedreich Ataxia With Retained Reflexes
|
Frda1
|
|
Fa
|
Friedreich'S Ataxia
|
|
Hereditary Spinal Ataxia
|
Fa1
|
|
Friedreich'S Tabes
|
Hereditary Spinal Sclerosis
|
|
Spinocerebellar Ataxia, Friedreich
|
Friedreich Spinocerebellar Ataxia
|
|
Friedrich'S Ataxia
|
|
|
| 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
|
|
|
| Iron Metabolism Disease |
|
Iron Deficiency
|
Iron Disorder
|
|
Iron Metabolism Disorders
|
Disorder Of Iron Metabolism
|
|
Iron
|
Fe Deficiency
|
|
Iron Storage Disease
|
Iron Storage Disorder
|
|
|
| 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
|
|
|
| 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
|
|
|
| Ehrlichiosis |
|
Human Ehrlichiosis
|
He
|
|
Hey
|
|
|
| Infantile Cerebellar-Retinal Degeneration |
|
ICRD
|
Infantile Cerebellar Retinal Degeneration
|
|
Degeneration, Cerebellar-Retinal, Infantile
|
|
|
| Spastic Paraplegia 38, Autosomal Dominant |
|
SPG38
|
Hereditary Spastic Paraplegia 38
|
|
Autosomal Dominant Spastic Paraplegia Type 38
|
Autosomal Dominant Spastic Paraplegia 38
|
|
|
| Iron Deficiency Anemia |
|
Iron-Deficiency Anemia
|
Fe Deficiency Anaemia
|
|
Ida - [Iron Deficiency Anemia]
|
Fe - [Iron] Deficiency Anemia Nos
|
|
|
| Restless Legs Syndrome |
|
Wed
|
Willis-Ekbom Disease
|
|
Restless Leg Syndrome
|
Ekbom Syndrome
|
|
Wittmaack-Ekbom Syndrome
|
Willis Ekbom Disease
|
|
Ekbom'S Syndrome
|
Rls
|
|
Restless Legs
|
Restless Legs Syndrome, Susceptibility To
|
|
|
| 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
|
|
|
| Beta-Thalassemia |
|
Beta Thalassemia
|
Cooley'S Anemia
|
|
Mediterranean Anemia
|
Beta Thalassemia Intermedia
|
|
Erythroblastic Anemia
|
Thalassemia, Hispanic Gamma-Delta-Beta
|
|
Thalassemia Major
|
Thalassemia Minor
|
|
Beta-Plus-Thalassemia
|
Thalassemia, Beta
|
|
Beta Thalassemia Major
|
Beta Thalassemia Minor
|
|
Thalassemias, Beta-
|
Microcytemia, Beta Type
|
|
Thalassemia, Beta Type
|
B-THAL
|
|
Mediterranean Anaemia
|
Beta Thalassaemia Syndrome
|
|
Mediterranean Disease
|
Beta Thalassaemia Disease
|
|
|
| Hypochromic Microcytic Anemia |
|
Anemia, Hypochromic Microcytic
|
Microcytic Hypochromic Anemia
|
|
|
| Microcytic Anemia |
|
Iron-Refractory Iron Deficiency Anemia
|
|
|
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Neuroferritinopathy
|
NBIA3
|
|
Ferritin-Related Neurodegeneration
|
Hereditary Ferritinopathy
|
|
Basal Ganglia Disease, Adult-Onset
|
Adult Basal Ganglia Disease
|
|
Neuroferritinopathy
|
Basal Ganglia Disease, Adult-Onset
|
|
Basal Ganglia Disease Adult-Onset
|
Adult-Onset Basal Ganglia Disease
|
|
Neurodegeneration, With Brain Iron Accumulation, Type 3
|
|
|
| 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]
|
|
|
| Protoporphyria, Erythropoietic, 1 |
|
Erythropoietic Protoporphyria
|
Epp
|
|
Ferrochelatase Deficiency
|
Protoporphyria, Erythropoietic
|
|
Erythrohepatic Protoporphyria
|
Heme Synthetase Deficiency
|
|
Autosomal Erythropoietic Protoporphyria
|
EPP1
|
|
Protoporphyria
|
Protoporphyria Erythropoietic
|
|
|
| Erythrocytosis, Familial, 2 |
|
Chuvash Polycythemia
|
ECYT2
|
|
Familial Erythrocytosis 2
|
Autosomal Recessive Benign Erythrocytosis
|
|
Polycythemia, Vhl-Dependent
|
Chuvash Erythromatosis
|
|
Chuvash Type Polycythemia
|
Chuvash Erythrocytosis
|
|
Von Hippel-Lindau-Dependent Polycythemia
|
Polycythemia Chuvash Type
|
|
Vhl-Dependent Polycythemia
|
Erythrocytosis, Familial, Type 2
|
|
|
| Metal Metabolism Disorder |
|
Metal Metabolism, Inborn Errors
|
Inborn Metal Metabolism Disorder
|
|
|
| Sideroblastic Anemia |
|
Anemia Sideroblastic
|
Anemia, Sideroblastic
|
|
Anemia, Hypochromic With Iron Loading
|
|
|
| Acute Porphyria |
|
Porphyrias, Hepatic
|
Hepatic Porphyria
|
|
Porphyria Hepatic
|
Acute Intermittent Porphyria
|
|
|
| Deficiency Anemia |
|
Anemia
|
Deficiency Anemias
|
|
Anaemia
|
|
|
| Wolfram Syndrome 2 |
|
|
| Hemochromatosis Type 2 |
|
Juvenile Hemochromatosis
|
Juvenile Hereditary Hemochromatosis
|
|
Hfe2
|
Jhh
|
|
Hemochromatosis Juvenile
|
Iron Overload Disease Juvenile
|
|
Hemochromatosis, Juvenile
|
Hemochromatosis, Type 2
|
|
Hemochromatosis
|
Hemochromatosis, Type 1
|
|
|
| Cataract |
|
Cataracts
|
Cat - [Cataract]
|
|
Cataract Form
|
Lens Opacity
|
|
Lens Opacities
|
|
|
| Autosomal Recessive Cerebellar Ataxia |
|
|
| Neurodegeneration With Brain Iron Accumulation |
|
Nbia
|
Neurodegeneration With Brain Iron Accumulation Disorders
|
|
Neurodegeneration, With Brain Iron Accumulation
|
|
|
| Aceruloplasminemia |
|
Cerebellar Ataxia
|
Hypoceruloplasminemia
|
|
Hemosiderosis, Systemic, Due To Aceruloplasminemia
|
Familial Apoceruloplasmin Deficiency
|
|
Hereditary Ceruloplasmin Deficiency
|
Deficiency Of Ferroxidase
|
|
Hypoceruloplasminemia, Hereditary
|
Ceruloplasmin Deficiency
|
|
Systemic Hemosiderosis Due To Aceruloplasminemia
|
ACERULOP
|
|
|
| Parkinson Disease, Late-Onset |
|
Parkinson Disease
|
Parkinson'S Disease
|
|
PD
|
PARK
|
|
Parkinson Disease, Susceptibility To
|
Late Onset Parkinson'S Disease
|
|
Late Onset Parkinson Disease
|
Paralysis Agitans
|
|
Primary Parkinsonism
|
Idiopathic Parkinson Disease
|
|
Parkinson'S
|
Parkinson Disease, Late-Onset, Susceptibility To
|
|
Parkinson Disease, Age Of Onset, Modifier
|
Lewy Body Parkinson Disease
|
|
Idiopathic Parkinson'S Disease
|
Pd - [Parkinson Disease]
|
|
Parkinson Disease Nos
|
Parkinson, Nos
|
|
Primary Parkinson Disease
|
|
|
