| 疾病名称 |
别名 |
|
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
PCARP
|
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
|
|
AXPC1
|
Ataxia, Posterior Column, With Retinitis Pigmentosa
|
|
Autosomal Recessive Posterior Column Ataxia And Retinitis Pigmentosa
|
|
|
| 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
|
|
|
| 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
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
| Posterior Column Ataxia |
|
|
| Hereditary Sensory Neuropathy |
|
Hereditary Sensory And Autonomic Neuropathy
|
Hereditary Sensory And Autonomic Neuropathies
|
|
Familial Dysautonomia, Type Ii
|
Hsan
|
|
Sensory Neuropathy Hereditary
|
Neuropathy, Sensory And Autonomic, Hereditary
|
|
Neuropathy, Sensory, Hereditary
|
Sensory Neuropathy, Hereditary
|
|
Charcot-Marie-Tooth Disease
|
Cmt - [Charcot-Marie-Tooth Disease]
|
|
|
| Retinitis |
|
|
| Leukemia |
|
Leukemias
|
Leukaemia, Unspecified, Without Mention Of Remission
|
|
Aleukemic Leukaemia
|
Chronic Leukaemia
|
|
Subacute Leukaemia
|
Leukaemia Disorder
|
|
Leukaemia Nos
|
|
|
| Stargardt Disease |
|
Stargardt Disease 1
|
Stargardt Macular Dystrophy
|
|
Stargardt Disease-1
|
Juvenile Onset Macular Degeneration
|
|
Stargardt Macular Degeneration
|
Juvenile Macular Degeneration
|
|
Macular Dystrophy With Flecks, Type 1
|
Stgd
|
|
Fundus Flavimaculatus
|
Stargardt 1
|
|
Stargardts Disease
|
|
|
| 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
|
|
|
| Asphyxiating Thoracic Dystrophy |
|
Jeune Thoracic Dystrophy
|
Jeune Syndrome
|
|
Asphyxiating Thoracic Dysplasia
|
Short-Rib Thoracic Dysplasia With Or Without Polydactyly
|
|
Thoracic Pelvic Phalangeal Dystrophy
|
Asphyxiating Thoracic Chondrodystrophy
|
|
Atd
|
Chondroectodermal Dysplasia-Like Syndrome
|
|
Infantile Thoracic Dystrophy
|
Jeune Thoracic Dysplasia
|
|
Thoracic Asphyxiant Dystrophy
|
Thoracic-Pelvic-Phalangeal Dystrophy
|
|
Short-Rib Thoracic Dysplasia Without Polydactyly
|
Asphyxiating Thoracic Dystrophy Of The Newborn
|
|
Asphyxiating Thorax Dystrophy
|
|
|
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Asphyxiating Thoracic Dystrophy 1
|
Jeune Syndrome
|
|
SRTD1
|
Atd1
|
|
Asphyxiating Thoracic Dystrophy Of The Newborn
|
Jatd
|
|
Jeune Asphyxiating Thoracic Dystrophy
|
Thoracic-Pelvic-Phalangeal Dystrophy
|
|
Atd
|
Asphyxiating Thoracic Dystrophy
|
|
Chondroectodermal Dysplasia-Like Syndrome
|
Infantile Thoracic Dystrophy
|
|
Jeune'S Syndrome
|
Thoracic Pelvic Phalangeal Dystrophy
|
|
Jeune Thoracic Dystrophy
|
|
|
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Fowler Syndrome
|
Encephaloclastic Proliferative Vasculopathy
|
|
Hydrocephaly/Hydranencephaly Due To Cerebral Vasculopathy
|
PVHH
|
|
Epv
|
Cerebral Proliferative Glomeruloid Vasculopathy
|
|
Hydranencephaly, Fowler Type
|
Proliferative Vasculopathy And Hydranencephaly/Hydrocephaly
|
|
Fowler'S Syndrome
|
Fowler Christmas Chapple Syndrome
|
|
Fowler Vasculopathy
|
Polycystic Ovaries Urethral Sphincter Dysfunction
|
|
Voiding Dysfunction And Polycystic Ovaries
|
Fowler Vasculopaty
|
|
Hydranencephaly Fowler Type
|
Pgv
|
|
Polycystic Ovaries-Urethral Sphincter Dysfunction Syndrome
|
|
|
| Sensory Peripheral Neuropathy |
|
Sensory Neuropathy
|
Peripheral Sensory Neuropathy
|
|
Hereditary Sensory And Autonomic Neuropathies
|
|
|
| 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
|
|
|
| Achalasia |
|
Cardiospasm
|
Achalasia Of Cardia
|
|
Esophageal Achalasia
|
Hypertensive Lower Esophageal Sphincter
|
|
Idiopathic Achalasia
|
Achalasia Cardia
|
|
Idiopathic Achalasia Of Esophagus
|
Primary Achalasia
|
|
Achalasia Of Esophagus
|
Lack Of Reflex Relaxation Of Lower Oesophageal Sphincter
|
|
Aperistalsis Of The Oesophagus
|
Achalasia Of Oesophagus
|
|
Oesophageal Achalasia
|
Achalasia Nos
|
|
Cardia Spasm
|
Cardia Achalasia
|
|
Oesophageal Cardiospasm
|
Oesophagus Achalasia
|
|
Reflex Cardiospasm
|
|
|
| Trombiculiasis |
|
|
| 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
|
|
|
| Night Blindness |
|
|
| Hydranencephaly |
|
|
| Folate Malabsorption, Hereditary |
|
Hereditary Folate Malabsorption
|
Congenital Defect Of Folate Absorption
|
|
Congenital Folate Malabsorption
|
Folic Acid Transport Defect
|
|
HFM
|
|
|
| Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Hereditary Sensory And Autonomic Neuropathy Type 2
|
Hsan2
|
|
HSAN2A
|
Morvan Disease
|
|
Hereditary Sensory And Autonomic Neuropathy Type Ii
|
Neurogenic Acroosteolysis
|
|
Hsan Iia
|
Hsn2a
|
|
Hsn Iia
|
Neuropathy, Progressive Sensory, Of Children
|
|
Neuropathy, Congenital Sensory
|
Neuropathy, Hereditary Sensory And Autonomic, Type Ii
|
|
Hereditary Sensory And Autonomic Neuropathy Type 2a
|
Hereditary Sensory And Autonomic Neuropathy Type Iia
|
|
Hsanii
|
Congenital Sensory Neuropathy
|
|
Hsan Type Ii
|
Morvan Syndrome
|
|
Neuropathy, Hereditary Sensory And Autonomic, Type 2a
|
Morvan'S Disease
|
|
Neuropathy, Hereditary Sensory, Type Iia
|
Acroosteolysis, Neurogenic
|
|
Acroosteolysis, Giaccai Type
|
Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive
|
|
Hereditary Sensory Autonomic Neuropathy Type 2
|
Giaccai Type Acroosteolysis
|
|
Hereditary Sensory Neuropathy Type 2
|
Hereditary Sensory Radicular Neuropathy, Recessive Form
|
|
Hsan2b
|
Hsan2c
|
|
Hsan2d
|
Hsn Type Ii
|
|
Autosomal Recessive Sensory Radicular Neuropathy
|
Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome
|
|
Morvan Fibrillary Chorea
|
Neuropathy, Hereditary Sensory And Autonomic, 2a
|
|
Acroosteolysis Giaccai Type
|
Hereditary Sensory Neuropathy Type Iia
|
|
Hereditary Sensory Radicular Neuropathy Autosomal Recessive
|
Progressive Sensory Neuropathy Of Children
|
|
Neuropathy Congenital Sensory
|
Charcot-Marie-Tooth Disease
|
|
Neuropathy, Sensory And Autonomic, Hereditary, Type Iia
|
Hereditary Sensory Autonomic Neuropathy, Type 2
|
|
Hereditary Motor And Sensory-Neuropathy Type Ii
|
Sensory Neuropathy, Hereditary
|
|
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
|
|
|
| Macular Degeneration, Age-Related, 1 |
|
Macular Degeneration
|
Age-Related Macular Degeneration
|
|
Macular Degeneration, Age-Related
|
Age Related Macular Degeneration
|
|
Age Related Macular Degeneration 1
|
ARMD1
|
|
Senile Macular Degeneration
|
Maculopathy, Age-Related, 1
|
|
Macular Degeneration, Age-Related, Reduced Risk Of
|
Age Related Maculopathy 1
|
|
Age Related Maculopathies
|
Age Related Maculopathy
|
|
Senile Macular Retinal Degeneration
|
Macular Degeneration Of Retina
|
|
Age-Related Maculopathy
|
Amd
|
|
Armd
|
Age-Related Maculopathy, Susceptibility To
|
|
Maculopathy Age-Related
|
Macular Degeneration, Age-Related, 1, Susceptibility To
|
|
Maculopathy, Age-Related
|
Macular Degeneration, Age-Related, Type 1
|
|
Macular Degeneration, Age-Related, 2
|
|
|
| Cutaneous Porphyria |
|
Porphyria, Erythropoietic
|
Erythropoietic Porphyria
|
|
|
| Acute Porphyria |
|
Porphyrias, Hepatic
|
Hepatic Porphyria
|
|
Porphyria Hepatic
|
Acute Intermittent Porphyria
|
|
|
| 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]
|
|
|
| Scoliosis |
|
|
