| 疾病名称 |
别名 |
|
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Gtp Cyclohydrolase I Deficiency
|
HPABH4B
|
|
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Gtp Cyclohydrolase I Deficiency
|
Bh4-Deficient Hyperphenylalaninemia B
|
|
Gtp Cyclohydrolase 1 Deficiency
|
Tetrahydrobiopterin-Deficient Hyperphenylalaninemia B
|
|
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Gtp Cyclohydrolase 1 Deficiency
|
Gtpch Deficiency
|
|
Hyperphenylalaninemia Due To Gtp Cyclohydrolase Deficiency
|
Atypical Severe Phenylketonuria Due To Gtp Cyclohydrolase I Deficiency
|
|
Gch1 Deficiency
|
Guanosine Triphosphate Cyclohydrolase I Deficiency
|
|
Hyperphenylalaninemia With Neopterin Deficiency
|
|
|
| Dystonia, Dopa-Responsive |
|
Dystonia 5
|
Dopa-Responsive Dystonia
|
|
DRD
|
Dyt5
|
|
Dystonia-Parkinsonism With Diurnal Fluctuation
|
Dyt-Th
|
|
Hpd With Diurnal Fluctuation
|
Hereditary Progressive Dystonia With Diurnal Fluctuation
|
|
Dystonia, Progressive, With Diurnal Variation
|
Segawa Syndrome, Autosomal Dominant
|
|
Dystonia, Dopa-Responsive, Autosomal Dominant
|
Dopa-Responsive Dystonia, Autosomal Dominant
|
|
Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia
|
Dyt-Gch1
|
|
Dyt-Spr
|
Dystonia 5, Dopa-Responsive Type
|
|
Hereditary Progressive Dystonia With Marked Diurnal Fluctuation
|
Autosomal Dominant Dopa-Responsive Dystonia
|
|
Autosomal Dominant Segawa Syndrome
|
Dystonia-5
|
|
Progressive Dystonia With Diurnal Fluctuation
|
Dystonia, Type 5, Dopa-Responsive Type
|
|
|
| Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia |
|
Autosomal Dominant Dopa-Responsive Dystonia
|
Autosomal Dominant Segawa Syndrome
|
|
Dyt5a
|
Hereditary Progressive Dystonia With Marked Diurnal Fluctuation
|
|
Gtpch1-Deficient Drd
|
Gtpch1-Deficient Dopa-Responsive Dystonia
|
|
Dopa-Responsive Dystonia, With Or Without Hyperphenylalaninemia
|
Dyt-Gch1
|
|
Dyt/Park-Gch1
|
Dopa-Responsive Dystonia Autosomal Dominant Segawa Syndrome
|
|
Hpd With Marked Diurnal Fluctuation
|
Dopa-Responsive Dystonia
|
|
|
| Segawa Syndrome, Autosomal Recessive |
|
Tyrosine Hydroxylase Deficiency
|
Dystonia, Dopa-Responsive, Autosomal Recessive
|
|
Parkinsonism, Infantile, Autosomal Recessive
|
Segawa Syndrome, Recessive
|
|
Dyt5b
|
Th-Deficient Drd
|
|
Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia
|
Autosomal Recessive Infantile Parkinsonism
|
|
Autosomal Recessive Dopa-Responsive Dystonia
|
Autosomal Recessive Dopa Responsive Dystonia
|
|
Dopa-Responsive Dystonia, Autosomal Recessive
|
Dopa Responsive Dystonia, Autosomal Recessive
|
|
Dyt/Park-Th
|
Dystonia, Dopa Responsive, Autosomal Recessive
|
|
Th Deficiency
|
Autosomal Recessive Segawa Syndrome
|
|
Thy
|
Segawa Syndrome Autosomal Recessive
|
|
ARSEGS
|
Thd
|
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Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia, Autosomal Recessive
|
|
|
| Dystonia |
|
Dystonic Disease
|
Dystonic Disorder
|
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Dystonia Disorders
|
Neuroleptic Dyskinesia
|
|
|
| Oromandibular Dystonia |
|
|
| Hyperphenylalaninemia |
|
|
| Tetrahydrobiopterin Deficiency |
|
Hyperphenylalaninemia Due To Tetrahydrobiopterin Deficiency
|
Hyperphenylalaninemia, Non-Phenylketonuric
|
|
Non-Phenylketonuric Hyperphenylalaninemia
|
Bh4 Deficiency
|
|
Hyperphenylalaninemia Caused By A Defect In Biopterin Metabolism
|
Hyperphenylalaninemia Due To Bh4 Deficiency
|
|
|
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
|
Pts Deficiency
|
|
HPABH4A
|
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Pts Deficiency
|
|
Ptsd
|
Bh4-Deficient Hyperphenylalaninemia A
|
|
Hyperphenylalaninemia Due To 6-Pyruvoyltetrahydropterin Synthase Deficiency
|
Tetrahydobioperin-Deficient Hyperphenylalaninemia Due To Pts Deficiency
|
|
Hyperphenylalanemia, Bh4-Deficient, A
|
Hyperphenylalaninemia Due To 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
|
|
6-Pyruvoyltetrahydropterin Synthase Deficiency
|
Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due To Pts Deficiency
|
|
Ptpsd
|
Hyperphenylalaninemia, Bh4-Deficient, Type A
|
|
|
| Hereditary Dystonia |
|
Dystonia Hereditary
|
Familial Dystonia
|
|
|
| Parkinsonism |
|
Parkinsonism-Plus
|
Idiopathic Parkinsonism
|
|
Primary Parkinsonism
|
Paralysis Agitans Syndrome
|
|
Parkinsonian Syndrome
|
Trembling Paralysis
|
|
Paralysis Agitans
|
Shaking Palsy
|
|
Shaking Paralysis
|
|
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| Movement Disease |
|
Movement Disorders
|
Movement Disorder
|
|
|
| Phenylketonuria |
|
Phenylalanine Hydroxylase Deficiency
|
PKU
|
|
Pah Deficiency
|
Folling Disease
|
|
Maternal Phenylketonuria
|
Phenylketonurias
|
|
Oligophrenia Phenylpyruvica
|
Hyperphenylalaninemia, Non-Pku Mild
|
|
Folling'S Disease
|
Phenylalaninemia
|
|
Mild Phenylketonuria
|
Mild Pku
|
|
Variant Pku
|
Variant Phenylketonuria
|
|
Mpku
|
Deficiency Disease, Phenylalanine Hydroxylase
|
|
Phenylketonuria, Maternal
|
Phenylalanine Hydroxylase Deficiency Disease
|
|
Hyperphenylalaninemic Embryopathy
|
Maternal Pku
|
|
Maternal Hyperphenylalaninemia
|
Phenylketonuric Embryopathy
|
|
Hyperphenylalaninemia
|
HPA
|
|
Non-Phenylketonuria Hyperphenylalaninemia
|
NON-PKU HPA
|
|
Phenylketonuria Maternal
|
Classical Phenylketonuria
|
|
Hyperphenylalaninaemia
|
Pku - [Phenylketonuria]
|
|
|
| Oculogyric Crisis |
|
|
| Segmental Dystonia |
|
|
| Thiamine Metabolism Dysfunction Syndrome 2 |
|
Biotin-Responsive Basal Ganglia Disease
|
Basal Ganglia Disease, Biotin-Responsive
|
|
THMD2
|
Bbgd
|
|
Btbgd
|
Encephalopathy, Thiamine-Responsive
|
|
Thiamine Metabolism Dysfunction Syndrome 2, Biotin- Or Thiamine-Responsive Type
|
Thiamine-Responsive Encephalopathy
|
|
|
| Hemidystonia |
|
|
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Sepiapterin Reductase Deficiency
|
Spr Deficiency
|
|
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
|
Srd
|
|
Drd Due To Srd
|
Dopa-Responsive Hypersomnia
|
|
Dyt-Spr
|
Dyt/Park-Spr
|
|
Sr-Deficient Drd
|
Autosomal Recessive Sepiapterin Reductase-Deficient Drd
|
|
Spr
|
DRDSPRD
|
|
Motor And Cognitive Disorder Due To Sepiapterin Reductase Deficiency
|
Psychomotor Disorders
|
|
|
| Cervical Dystonia |
|
|
| Trigeminal Neuralgia |
|
Tic Douloureux
|
Trifacial Neuralgia
|
|
Trifocal Neuralgia
|
Neuralgia Of The Fifth Cranial Nerve
|
|
Neuralgia Of 5th Cranial Nerve
|
Infraorbital Neuralgia
|
|
|
| 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
|
|
|
| Spasmodic Dystonia |
|
|
| Multifocal Dystonia |
|
|
| Leber Optic Atrophy And Dystonia |
|
LDYT
|
Marsden Syndrome
|
|
Leber Hereditary Optic Neuropathy With Dystonia
|
Leber Hereditary Optic Neuropathy And Dystonia
|
|
Familial Dystonia With Visual Failure And Striatal Lucencies
|
Dystonia, Familial, With Visual Failure And Striatal Lucencies
|
|
Leber Optic Atrophy With Dystonia
|
Dystonia Familial, With Visual Failure And Striatal Lucencies
|
|
Lhon And Dystonia
|
Leber'S Hereditary Optic Neuropathy With Dystonia
|
|
|
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Aadc Deficiency
|
Dopa Decarboxylase Deficiency
|
|
Ddc Deficiency
|
Aromatic Amino Acid Decarboxylase Deficiency
|
|
Deficiency Of Aromatic-L-Amino-Acid Decarboxylase
|
AADCD
|
|
Aromatic-L-Amino-Acid Decarboxylase Deficiency
|
Aromatic L-Amino-Acid Decarboxylase Deficiency
|
|
|
| Focal Dystonia |
|
Dystonia, Focal, Task-Specific
|
|
|
| Dystonia 3, Torsion, X-Linked |
|
X-Linked Dystonia-Parkinsonism
|
DYT3
|
|
Xdp
|
Lubag
|
|
Dystonia-Parkinsonism, X-Linked
|
Torsion Dystonia-Parkinsonism, Filipino Type
|
|
Dyt-Taf1
|
X-Linked Dystonia-Parkinsonism Syndrome
|
|
X-Linked Torsion Dystonia-Parkinsonism Syndrome
|
Dystonia Musculorum Deformans
|
|
X-Linked Dystonia-Parkinsonism/Lubag
|
Lubag Syndrome
|
|
Dystonia-3
|
Torsion Dystonia-Parkinsonism Filipino Type
|
|
X-Linked Torsion Dystonia 3
|
Dystonia, Torsion, X-Linked, Type 3
|
|
|
| Dystonia 12 |
|
DYT12
|
Rdp
|
|
Generalized Dystonia
|
Dystonia-12
|
|
Rapid-Onset Dystonia-Parkinsonism
|
Familial Dystonia
|
|
Dystonia Musculorum Deformans
|
Dystonic Disorders
|
|
Idiopathic Familial Dystonia
|
Dystonia-Parkinsonism, Rapid-Onset
|
|
Fragments Of Torsion Dystonia
|
Dyt-Atp1a3
|
|
Rapid-Onset Dystonia Parkinsonism
|
Rodp
|
|
Dystonia, Type 12
|
Dystonia 3, Torsion, X-Linked
|
|
Idiopathic Non-Familial Dystonia
|
Symptomatic Torsion Dystonia
|
|
Dystonia Disorders
|
|
|
| Dystonia 1, Torsion, Autosomal Dominant |
|
Dystonia Musculorum Deformans 1
|
Dystonia Musculorum Deformans
|
|
DYT1
|
Early-Onset Torsion Dystonia
|
|
Eotd
|
Dystonia-1, Torsion
|
|
Torsion Dystonia 1
|
Autosomal Dominant Torsion Dystonia 1
|
|
Dystonia-1
|
Oppenheim'S Dystonia
|
|
Oppenheim-Ziehen Disease
|
Early Onset Torsion Dystonia
|
|
Dystonia 3, Torsion, X-Linked
|
|
|
| Blepharospasm |
|
|
| Focal Hand Dystonia |
|
Organic Writer'S Cramp
|
Dystonia, Focal, Task-Specific
|
|
|
| Dystonia 11, Myoclonic |
|
Myoclonic Dystonia
|
Myoclonus-Dystonia Syndrome
|
|
DYT11
|
Myoclonic Dystonia 11
|
|
Alcohol-Responsive Dystonia
|
Myoclonus, Hereditary Essential
|
|
Dystonia-11, Myoclonic
|
Myoclonus-Dystonia
|
|
Dystonia 11
|
Hereditary Essential Myoclonus
|
|
Dystonia, Alcohol-Responsive
|
Dyt-Sgce
|
|
Dystonia, Alcohol Responsive
|
Dystonia-11
|
|
Dystonia, Myoclonic
|
Dystonia, Myoclonic, Type 11
|
|
|
| Pheochromocytoma |
|
Pheochromocytoma, Susceptibility To
|
Phaeochromocytoma
|
|
Adrenal Gland Chromaffin Paraganglioma
|
Adrenal Gland Chromaffinoma
|
|
Adrenal Gland Paraganglioma
|
Adrenal Gland Pheochromocytoma
|
|
Chromaffin Paraganglioma Of The Adrenal Gland
|
Intraadrenal Paraganglioma
|
|
PCC
|
Chromaffin Cell Tumor
|
|
Medullary Chromaffinoma
|
Medullary Paraganglioma
|
|
Pheochromoblastoma
|
Pheochromocytomas
|
|
Chromaffin Cell Neoplasm
|
Pheochromocytoma, Malignant
|
|
|
| Gliosarcoma |
|
Glioblastoma With Sarcomatous Component
|
Sarcomatous Glioblastoma
|
|
|
| Bipolar Disorder |
|
Bipolar Depression
|
Manic Disorder
|
|
Depression, Bipolar
|
Bipolar Disorder Manic Phase
|
|
Depressive-Manic Psych.
|
Manic Bipolar Affective Disorder
|
|
Manic Bipolar I Disorder
|
Manic Depression
|
|
Manic Depressive Disorder
|
Mixed Bipolar Disorder
|
|
Bipolar Affective Disorder
|
Bipolar Affective Psychosis
|
|
Bipolar Spectrum Disorder
|
Manic Depressive Illness
|
|
Depression Bipolar
|
Bipolar Disorder, Mixed
|
|
Major Affective Disorder
|
Major Affective Disorder 1
|
|
Major Affective Disorder 2
|
|
|
| Alternating Hemiplegia Of Childhood |
|
Alternating Hemiplegia
|
Ahc
|
|
Alternating Hemiplegia Syndrome
|
Hemiplegia, Alternating, Of Childhood
|
|
Hemiplegia, Crossed
|
|
|
| Leber Plus Disease |
|
Leber Congenital Amaurosis
|
Lca
|
|
Leber'S Amaurosis
|
Leber'S Disease
|
|
Amaurosis Congenita Of Leber
|
Amaurosis Congenita Of Leber, Type 1
|
|
Lhon Plus Disease
|
Congenital Absence Of The Rods And Cones
|
|
Congenital Retinal Blindness
|
Crb
|
|
Congenital Amaurosis Of Retinal Origin
|
Leber'S Congenital Amaurosis
|
|
Leber Congenital Amaurosis 1
|
Leber'S Congenital Tapetoretinal Degeneration
|
|
Leber'S Congenital Tapetoretinal Dysplasia
|
Lca1
|
|
Leber Congenital Amaurosis Type 1
|
Retinal Blindness, Congenital
|
|
Amaurosis, Leber Congenital
|
Dysgenesis Neuroepithelialis Retinae
|
|
Hereditary Epithelial Dysplasia Of Retina
|
Hereditary Retinal Aplasia
|
|
Heredoretinopathia Congenitalis
|
Leber Abiotrophy
|
|
Leber Congenital Tapetoretinal Degeneration
|
Lebers Congenital Amaurosis
|
|
Optic Atrophy, Hereditary, Leber
|
|
|
