| 疾病名称 |
别名 |
|
| 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
|
|
|
| Hyperphenylalaninemia |
|
|
| 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]
|
|
|
| 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
|
|
|
| Classic Phenylketonuria |
|
Classical Phenylketonuria
|
Classic Pku
|
|
Phenylketonuria Classical
|
Phenylpyruvic Oligophrenia
|
|
Oligophrenia Phenylpyruvica
|
Imbecilitus Phenylpyruvica
|
|
Typical Phenylketonuria
|
Phenylpyruvic Aciduria
|
|
Pah - [Phenylalanine Hydroxylase] Deficiency
|
Hyperphenylalaninaemia Type I
|
|
Typical Pku - [Phenylketonuria]
|
Folling Disease
|
|
|
| Tyrosinemia |
|
Hypertyrosinemia
|
Tyrosinemias
|
|
Hereditary Tyrosinemia
|
Hypertyrosinaemia
|
|
Tyrosinaemia
|
Hereditary Hypertyrosinemia
|
|
|
| Plague |
|
Yersiniosis
|
Yersinia Infections
|
|
Infection By Yersinia Pestis
|
Pasteurella Pestis Infection
|
|
Pestilential Fever
|
Yersinia Pestis Infection
|
|
|
| Intestinal Perforation |
|
|
| Dystonia |
|
Dystonic Disease
|
Dystonic Disorder
|
|
Dystonia Disorders
|
Neuroleptic Dyskinesia
|
|
|
| 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
|
|
|
| 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
|
|
|
| Metachondromatosis |
|
|
| Dissociated Nystagmus |
|
|
| Type 2 Diabetes Mellitus |
|
Insulin Resistance
|
NIDDM
|
|
Type 2 Diabetes
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
T2D
|
Noninsulin-Dependent Diabetes Mellitus
|
|
Diabetes Mellitus, Type Ii
|
Maturity-Onset Diabetes
|
|
Insulin Resistance, Severe, Digenic
|
Diabetes Mellitus, Type 2
|
|
Diabetes Mellitus, Noninsulin-Dependent
|
Diabetes Mellitus, Noninsulin-Dependent, Association With
|
|
Diabetes Mellitus, Noninsulin-Dependent, Late Onset
|
Hypertension, Insulin Resistance-Related, Susceptibility To
|
|
Insulin Resistance, Susceptibility To
|
Non-Insulin-Dependent Diabetes Mellitus
|
|
Type Ii Diabetes Mellitus
|
Adult-Onset Diabetes Mellitus
|
|
Maturity-Onset Diabetes Mellitus
|
Diabetes Mellitus Type 2
|
|
Type Ii Diabetes
|
Type 2 Diabetes Mellitus, Susceptibility To
|
|
Diabetes, Type 2
|
Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To
|
|
Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To
|
Diabetes Mellitus, Type 2, Susceptibility To
|
|
Diabetes Mellitus, Noninsulin-Dependent, 2
|
Diabetes Mellitus, Type Ii, Susceptibility To
|
|
Hypertension, Insulin Resistance-Related
|
Adult-Onset Diabetes
|
|
Aodm
|
Diabetes Mellitus, Adult-Onset
|
|
Diabetes Mellitus Type Ii
|
Diabetes Mellitus Type 2, Susceptibility To
|
|
Diabetes, Type Ii, Susceptibility To
|
Diabetes Type 2
|
|
Diabetes Mellitus
|
Adult Onset Diabetes
|
|
Maturity Onset Diabetes
|
Nonketotic Diabetes
|
|
Non-Insulin Dependent Diabetes Mellitus
|
T2dm - [Type 2 Diabetes Mellitus]
|
|
Niddm - [Non Insulin Dependent Diabetes Mellitus]
|
Dm2
|
|
Dm Type Ii
|
Diabetic Type 2
|
|
Insulin Requiring Type 2 Diabetes
|
Noninsulin Dependent Diabetes
|
|
Non-Insulin-Dependent Diabetes Mellitus Without Complications
|
Diabetes Due To Insulin Secretory Defect
|
|
Diabetes Mellitus Due To Insulin Secretory Defect
|
Non-Insulin-Dependent Diabetes Of The Young
|
|
Senile Diabetes
|
Nonketotic Hyperglycaemia
|
|
Stable Diabetes
|
|
|
| Oculogyric Crisis |
|
|
| Noonan Syndrome With Multiple Lentigines |
|
Leopard Syndrome
|
Multiple Lentigines Syndrome
|
|
Moynahan Syndrome
|
Cardiomyopathic Lentiginosis
|
|
Progressive Cardiomyopathic Lentiginosis
|
Cardio-Cutaneous Syndrome
|
|
Lentiginosis Profusa
|
Capute-Rimoin-Konigsmark-Esterly-Richardson Syndrome
|
|
Generalized Lentiginosis
|
Gorlin Syndrome Ii
|
|
Lentiginosis Profusa Syndrome
|
Lentigines, Electrocardiographic Conduction Abnormalities, Ocular Hypertelorism, Pulmonic Stenosis, Abnormal Genitalia, Retardation Of Growth, Deafnes
|
|
Diffuse Lentiginosis
|
Nsml
|
|
Familial Multiple Lentigines Syndrome
|
Alopecia-Epilepsy-Intellectual Disability Syndrome, Moynahan Type
|
|
Progressive Cardiomyopathic Lentiginosis Syndrome
|
Alopecia Epilepsy Oligophrenia Syndrome Of Moynahan
|
|
|
| Schwannoma Of Twelfth Cranial Nerve |
|
Hypoglossal Schwannoma
|
Schwannoma Of The Twelfth Cranial Nerve
|
|
|
| Hypoglossal Nerve Disease |
|
Hypoglossal Nerve Diseases
|
Disorder Of 12th Nerve
|
|
Disorder Of Hypoglossal [12th] Nerve
|
Disorder Of Hypoglossal Nerve
|
|
Disorder Of Xii Nerve
|
Disorders Of The Twelfth Cranial Nerve
|
|
Disorders Of 12th Cranial Nerve
|
|
|
| Rasopathy |
|
Ras/Mitogen-Activated Protein Kinase Syndrome
|
|
|
| Juvenile Myelomonocytic Leukemia |
|
Leukemia, Juvenile Myelomonocytic
|
JMML
|
|
Leukemia, Juvenile Myelomonocytic, Somatic
|
Juvenile Chronic Myelomonocytic Leukemia
|
|
Juvenile Chronic Myelogenous Leukemia
|
Leukemia, Myelomonocytic, Juvenile
|
|
Juvenile Myelomonocytic Leukaemia Without Mention Of Remission
|
|
|
| Diabetes Mellitus |
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
OBESITY
|
Obesity, Susceptibility To
|
|
Leanness, Inherited
|
Obesity, Susceptibility To, Bmiq11
|
|
Obesity, Mild, Early-Onset
|
Obesity, Association With
|
|
Obesity, Early-Onset, Susceptibility To
|
Obesity, Severe
|
|
Obesity, Severe, And Type Ii Diabetes
|
Obesity, Late-Onset
|
|
Obesity , Susceptibility To
|
BMIQ11
|
|
Obesity Bmiq11
|
Obesity, Early-Onset
|
|
Simple Obesity Nos
|
Excess Fat
|
|
Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified
|
Adiposis
|
|
|
| Noonan Syndrome 1 |
|
Noonan Syndrome
|
NS1
|
|
Male Turner Syndrome
|
Female Pseudo-Turner Syndrome
|
|
Turner Phenotype With Normal Karyotype
|
Noonan Syndrome With Pigmented Villonodular Synovitis
|
|
Turner'S Phenotype, Karyotype Normal
|
Familial Turner Syndrome
|
|
Noonan'S Syndrome
|
Noonan-Ehmke Syndrome
|
|
Ns
|
Pseudo-Ullrich-Turner Syndrome
|
|
Turner Syndrome In Female With X Chromosome
|
Turner-Like Syndrome
|
|
Ullrich-Noonan Syndrome
|
Noonan-Like/Multiple Giant Cell Lesion Syndrome
|
|
Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions
|
Pterygium Colli Syndrome
|
|
Noonan Syndrome, Type 1
|
Turner Syndrome, Male
|
|
|
