| 疾病名称 |
别名 |
|
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Fechtner Syndrome
|
May-Hegglin Anomaly
|
|
Sebastian Syndrome
|
Epstein Syndrome
|
|
Macrothrombocytopenia With Leukocyte Inclusions
|
Myh9-Related Disorder
|
|
Macrothrombocytopenia And Progressive Sensorineural Deafness
|
MATINS
|
|
Bdplt6
|
Mha
|
|
Dohle Leukocyte Inclusions With Giant Platelets
|
Giant Platelet Syndrome With Thrombocytopenia
|
|
Sbs
|
Sebastian Platelet Syndrome
|
|
Epstns
|
Ftns
|
|
Bleeding Disorder, Platelet-Type, 6
|
Macrothrombocytopenia With Dispersed Leukocytic Inclusions
|
|
Macrothrombocytopenia, Nephritis, And Deafness
|
Macrothrombocytopenia, Nephritis, Deafness, And Leukocyte Inclusions
|
|
Alport Syndrome With Macrothrombocytopenia, Formerly
|
Apsm, Formerly
|
|
Myh9 Related Thrombocytopenia
|
Myh9 Related Disorders
|
|
Myh9-Rd
|
Myh9-Related Disease
|
|
Myh9-Related Syndrome
|
Myh9-Related Syndromic Thrombocytopenia
|
|
Autosomal Dominant Myh9 Spectrum Disorders
|
Myh9-Related Macrothrombocytopenias
|
|
Myh9rd
|
Alport Syndrome, With Macrothrombocytopenia
|
|
Bleeding Disorder Platelet-Type 6
|
Macrothrombocytopathy, Nephritis, And Deafness
|
|
Macrothrombocytopathy-Nephritis-Deafness
|
Mpsd
|
|
Epsteins Syndrome
|
May-Hegglin Disorder
|
|
Macrothrombocytopenia, Granulocyte Inclusions With/Without Nephritis Or Sensorineural Hearing Loss
|
|
|
| Deafness, Autosomal Dominant 17 |
|
DFNA17
|
Autosomal Dominant Nonsyndromic Deafness 17
|
|
Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17
|
Autosomal Dominant Deafness 17
|
|
Late-Onset Progressive Hereditary Hearing Impairment Due To Cochleosaccular Degeneration
|
Nonsyndromic Hereditary Deafness Dfna17
|
|
Deafness, Autosomal Dominant, 17
|
Cochleosaccular Degeneration
|
|
Deafness, Autosomal Dominant, Type 17
|
Cochleosaccular Degeneration Of The Inner Ear And Progressive Cataracts
|
|
|
| Myh-9 Related Disease |
|
Myh9-Related Disease
|
Myh9-Rd
|
|
Myh9-Related Disorder
|
Myh9-Related Syndrome
|
|
Myh9-Related Syndromic Thrombocytopenia
|
Sebastian Syndrome
|
|
|
| Pseudosarcomatous Fibromatosis |
|
Nodular Fasciitis
|
Pseudosarcomatous Fasciitis
|
|
Fasciitis - Nodular
|
Fasciitis Nodular
|
|
|
| Thrombocytopenia |
|
Low Platelet Count
|
Low Platelets
|
|
Decreased Platelets
|
Platelet Dysfunction Nos
|
|
|
| Autosomal Recessive Nonsyndromic Deafness |
|
Deafness, Autosomal Recessive, Nonsyndromic
|
|
|
| Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb |
|
Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb
|
Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb
|
|
Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb
|
Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb
|
|
Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb
|
Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb
|
|
Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
|
|
|
| Deafness, Autosomal Recessive |
|
|
| Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna |
|
Autosomal Dominant Isolated Neurosensory Deafness Type Dfna
|
Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna
|
|
Autosomal Dominant Isolated Sensorineural Deafness Type Dfna
|
Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna
|
|
Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna
|
Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna
|
|
Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna
|
|
|
| Rare Genetic Deafness |
|
Rare Genetic Hearing Loss
|
|
|
| End Stage Renal Disease |
|
End Stage Renal Failure
|
End-Stage Kidney Disease
|
|
Kidney Failure, Chronic
|
Chronic Kidney Disease Stage 5
|
|
|
| Alport Syndrome |
|
Hereditary Nephritis
|
Alport Syndrome, X-Linked
|
|
Hemorrhagic Hereditary Nephritis
|
Congenital Hereditary Hematuria
|
|
Hemorrhagic Familial Nephritis
|
Familial Nephritis
|
|
Thin Basement Membrane Disease
|
Thin Basement Membrane Nephropathy
|
|
Hematuria-Nephropathy-Deafness Syndrome
|
Hematuric Hereditary Nephritis
|
|
Hereditary Familial Congenital Hemorrhagic Nephritis
|
Hereditary Hematuria Syndrome
|
|
Hereditary Interstitial Pyelonephritis
|
Alport Deafness-Nephropathy
|
|
Alport Hearing Loss-Nephropathy
|
Alports Syndrome
|
|
Nephritis, Hereditary
|
|
|
| Deafness, Autosomal Recessive 63 |
|
DFNB63
|
Autosomal Recessive Nonsyndromic Deafness 63
|
|
Autosomal Recessive Deafness 63
|
Deafness, Autosomal Recessive, 63
|
|
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 63
|
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 63
|
|
Deafness, Autosomal Recessive, Type 63
|
|
|
| Hemangioma, Capillary Infantile |
|
HCI
|
Capillary Infantile Hemangioma
|
|
Hemangioma, Hereditary Capillary
|
Hemangioma, Capillary Infantile, Susceptibility To
|
|
Hemangioma, Capillary Infantile, Somatic
|
Hemangioma Hereditary Capillary
|
|
|
| Bernard-Soulier Syndrome |
|
Giant Platelet Syndrome
|
BSS
|
|
Von Willebrand Factor Receptor Deficiency
|
Bdplt1
|
|
Platelet Glycoprotein Ib Deficiency
|
Bernard-Soulier Syndrome, Type A1
|
|
Bernard-Soulier Syndrome, Type B
|
Bernard Soulier Syndrome
|
|
Deficiency Of Platelet Glycoprotein 1b
|
Hemorrhagiparous Thrombocytic Dystrophy
|
|
Bernard-Soulier Syndrome Type C
|
Bleeding Disorder, Platelet-Type, 1
|
|
Glycoprotein Ib, Platelet, Deficiency Of
|
Giant Platelet Disorder, Isolated
|
|
Giant Platelet Disease
|
Macrothrombocytopenia, Familial Bernard-Soulier Type
|
|
Bernard-Soulier Syndrome, Type C
|
Bernard - Soulier Thrombopathy
|
|
Hemorrhagic Dystrophic Thrombocytopenia
|
Thrombopathy, Bernard-Soulier
|
|
Platelet Glycoprotein 1b, Deficiency Of
|
Hemorrhagioparous Thrombocytic Dystrophy
|
|
Bernard-Soulier Syndrome Type A1
|
Bernard-Soulier Syndrome Type B
|
|
Bleeding Disorder Platelet-Type 1
|
Gpd
|
|
Macrothrombocytopenia, Familial, Bernard-Soulier Type
|
|
|
| Sensorineural Hearing Loss |
|
Sensory Hearing Loss
|
Sensorineural Deafness
|
|
Sensorineural Hearing Loss Disorder
|
Hearing Loss, Sensorineural
|
|
Central Hearing Loss
|
High Frequency Deafness
|
|
High Frequency Hearing Loss
|
High-Frequency Hearing Loss
|
|
Perceptive Deafness
|
Perceptive Hearing Loss
|
|
Perceptive Hearing Loss Or Deafness
|
Hearing Loss Sensorineural
|
|
Deafness Sensorineural
|
Hearing Loss High-Frequency
|
|
Hearing Loss, Central
|
Hearing Loss, High-Frequency
|
|
|
| Blood Platelet Disease |
|
Platelet Disorder
|
Blood Platelet Disorders
|
|
Thrombocytopathy
|
Platelet Dysfunction
|
|
Platelet Disorders
|
Qualitative Platelet Deficiency
|
|
|
| Fasciitis |
|
|
| Hypertension, Essential |
|
Essential Hypertension
|
Hypertension
|
|
High Blood Pressure
|
Hypertension, Essential, Susceptibility To
|
|
Hypertensive Disease
|
Primary Hypertension
|
|
EHT
|
Hypertension, Salt-Sensitive Essential, Susceptibility To
|
|
Hyperpiesia
|
Idiopathic Hypertension
|
|
Hypertensive Disorder
|
Hypertension, Essential, Susceptibility To, 3
|
|
Hypertension, Essential 3
|
Hypertension, Essential, Salt-Sensitive
|
|
Hypertension, Essential, Susceptibility To, 6
|
Hypertension, Essential 6
|
|
Hypertension, Salt-Sensitive Essential
|
Hypertension, Susceptibility To
|
|
Hypertension, Essential, Susceptibility To, 4
|
Hypertension, Essential 4
|
|
Hypertension, Essential, Susceptibility To, 2
|
Hypertension, Essential 2
|
|
Hypertension, Essential, Susceptibility To, 1
|
Hypertension, Essential 1
|
|
Hypertension, Essential, Susceptibility To, 5
|
Hypertension, Essential 5
|
|
Htn
|
Vascular Hypertensive Disorder
|
|
Systemic Primary Arterial Hypertension
|
Hbp - [High Blood Pressure]
|
|
Systemic Arterial Hypertensive Disorder
|
Elevated Blood Pressure
|
|
Arterial Hypertension Nos
|
Hypertension Nos
|
|
Benign Hypertension
|
Systemic Arterial Hypertension
|
|
Systemic Hypertension
|
Artery Htn
|
|
Benign Htn
|
Vascular Htn
|
|
Vascular Hypertension
|
Cholesterol Hypertension
|
|
Cholesterol Htn
|
Idiopathic Htn
|
|
Malignant Hypertension
|
Malignant Htn
|
|
Raised Blood Pressure
|
Cardiovascular Hypertension
|
|
Primary Htn - [Hypertension]
|
High Arterial Tension
|
|
High Blood Pressure Disorder
|
Ht - [Hypertension]
|
|
Htn - [Hypertension]
|
Hypertensive Vascular Disease
|
|
Hypertensive Vascular Degeneration
|
|
|
| Ankrd26-Related Thrombocytopenia |
|
|
| Focal Segmental Glomerulosclerosis |
|
Familial Idiopathic Steroid-Resistant Nephrotic Syndrome
|
Focal Glomerulosclerosis
|
|
Fsgs
|
Segmental Glomerulosclerosis
|
|
Glomerulosclerosis, Focal Segmental
|
Fgs
|
|
Focal Glomerular Sclerosis
|
Familial Idiopathic Nephrotic Syndrome
|
|
Focal Sclerosis With Hyalinosis
|
Glomerulosclerosis, Focal
|
|
Glomerulosclerosis Focal
|
Glomerulosclerosis, Segmental, Focal
|
|
Focal Segmental Glomerulosclerosis, Not Otherwise Specified
|
|
|
| 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
|
|
|
| Kidney Disease |
|
Renal Failure
|
Kidney Failure
|
|
Kidney Diseases
|
Nephropathy
|
|
Abnormality Of The Kidney
|
Impaired Renal Function Disease
|
|
Renal Anomaly
|
Kidney Dysfunction
|
|
Renal Disease
|
Nephropathies
|
|
Renal Failure Adverse Event
|
Abnormal Renal Function
|
|
|
| Glomerulonephritis |
|
|
| Bladder Exstrophy |
|
Exstrophy Of The Bladder
|
Classic Exstrophy Of The Bladder
|
|
|
| Nephrotic Syndrome |
|
Finnish Congenital Nephrotic Syndrome
|
Ns - [Nephrotic Syndrome]
|
|
Nephrosis Syndrome
|
Nephrosis Nos
|
|
Glomerular Lesion Nephrosis
|
|
|
| Acquired Thrombocytopenia |
|
Secondary Thrombocytopenia
|
|
|
| Intravascular Fasciitis |
|
Intravascular Pseudosarcomatous Fasciitis
|
|
|
| Ischemic Fasciitis |
|
Atypical Decubital Fibroplasia
|
|
|
| Autosomal Dominant Alport Syndrome |
|
Alport Syndrome, Autosomal Dominant
|
Alport Syndrome Dominant Type
|
|
Renal Failure And Sensorineural Hearing Loss
|
Alport Syndrome, Dominant Type
|
|
|
| Proliferative Fasciitis |
|
|
| X-Linked Alport Syndrome |
|
Nephropathy And Deafness, X-Linked
|
|
|
| Autosomal Recessive Alport Syndrome |
|
Alport Syndrome, Recessive Type
|
Alport Syndrome, Autosomal Recessive
|
|
Alport Syndrome Autosomal Recessive
|
Alport Syndrome Recessive Type
|
|
Nephropathy And Deafness
|
|
|
| Chronic Kidney Disease |
|
Chronic Renal Disease
|
Chronic Kidney Failure
|
|
Ckd
|
Chronic Renal Failure
|
|
Kidney Failure, Chronic
|
Chronic Renal Failure Syndrome
|
|
Crf
|
Renal Failure - Chronic
|
|
Renal Failure Chronic
|
Chronic Kidney Diseases
|
|
Chronic Kidney Disease Stage 5
|
Ckd - [Chronic Kidney Disease]
|
|
Crf - [Chronic Renal Failure]
|
Chronic Kidney Impairment
|
|
Chronic Renal Impairment
|
Chronic Kidney Shutdown
|
|
Chronic Hypoxic Kidney Failure
|
Chronic Kidney Collapse
|
|
Chronic Renal Insufficiency
|
Chronic Kidney Toxaemia
|
|
Chronic Kidney Hypofunction
|
Chronic Renal Suppression
|
|
Chronic Renal Failure, Stage 5
|
Ckd - [Chronic Kidney Disease] Stage 5
|
|
End Stage Kidney Failure
|
End Stage Renal Failure
|
|
End Stage Kidney Disease
|
End Stage Renal Disease
|
|
End Stage Chronic Renal Failure
|
Esrf - [End Stage Renal Failure]
|
|
Esrd - [End Stage Renal Diseases]
|
Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²
|
|
|
| Cataract |
|
Cataracts
|
Cat - [Cataract]
|
|
Cataract Form
|
Lens Opacity
|
|
Lens Opacities
|
|
|
| Hematuria, Benign Familial |
|
Benign Familial Hematuria
|
BFH
|
|
Thin Membrane Nephropathy
|
Tmn
|
|
Thin Basement Membrane Nephropathy
|
Thin-Basement-Membrane Nephropathy
|
|
Hematuria, Familial Benign
|
Hematuria Benign Familial
|
|
Hematuria, Benign, Familial
|
Thin Basement Membrane Disease
|
|
|
| Renal Hypertension |
|
Hypertension Renal
|
Hypertension, Renal
|
|
|
| Lens Disease |
|
|
| Febrile Seizures, Familial, 1 |
|
FEB1
|
Convulsions, Familial Febrile, 1
|
|
Familial Febrile Seizures 1
|
Familial Febrile Convulsions 1
|
|
|
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Congenital Amegakaryocytic Thrombocytopenia
|
CAMT
|
|
Thrombocytopenia, Congenital Amegakaryocytic
|
Congenital Amegakaryocytic Thrombocytopenic Purpura
|
|
Thrombocytopenia Congenital Amegakaryocytic
|
Thrombocytopenia, Amegakaryocytic, Congenital
|
|
|
| Glanzmann Thrombasthenia 1 |
|
Glanzmann Thrombasthenia
|
Thrombasthenia Of Glanzmann And Naegeli
|
|
Glanzmann'S Thrombasthenia
|
Bdplt2
|
|
Platelet Glycoprotein Iib-Iiia Deficiency
|
Deficiency Of Platelet Fibrinogen Receptor
|
|
GT1
|
Gt
|
|
Platelet Fibrinogen Receptor Deficiency
|
Glycoprotein Complex Iib-Iiia Deficiency
|
|
Deficiency Of Glycoprotein Complex Iib-Iiia
|
Glycoprotein Iib/Iiia Defect
|
|
Glanzmann Thrombasthenia, Type A
|
Thrombasthenia
|
|
Bleeding Disorder, Platelet-Type, 2
|
Gp Iib-Iiia Complex Deficiency
|
|
Deficiency Of Gp Iib-Iiia Complex
|
Platelet-Type Bleeding Disorder 2
|
|
Thrombocytasthenia
|
Deficiency Of Gp 2b 3a Complex
|
|
Diacyclothrombopathia 2b 3a
|
Glanzmann Thrombasthenia Type A
|
|
Platelet Fibrinogen Receptor, Deficiency Of
|
Platelet Glycoprotein 2b 3a Deficiency
|
|
Glanzmann Disease
|
Glanzmann-Naegeli Disorder
|
|
Hereditary Hemorrhagic Thrombasthenia
|
Hereditary Thrombasthenia
|
|
Bleeding Disorder Platelet-Type 2
|
|
|
| Sleeping Sickness |
|
African Trypanosomiasis
|
African Sleeping Sickness
|
|
Trypanosomiasis, Human East-African
|
Trypanosomiasis, East African
|
|
Trypanosomiasis African
|
Trypanosomiasis, African
|
|
Human African Trypanosomiasis
|
|
|
| Cleft Palate, Isolated |
|
Cleft Palate
|
Isolated Cleft Palate
|
|
CPI
|
Cp
|
|
Palatoschisis
|
Cleft Palate Isolated
|
|
Uranostaphyloschisis
|
Congenital Fissure Of Palate
|
|
Cleft Of Secondary Palate
|
|
|
| Autosomal Dominant Nonsyndromic Deafness |
|
Autosomal Dominant Deafness
|
|
|
| Hermansky-Pudlak Syndrome |
|
Hps
|
Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
|
|
Hermanski-Pudlak Syndrome
|
Hermansky Pudlak Syndrome
|
|
Platelet Storage Pool Deficiency
|
|
|
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric Septal Hypertrophy
|
Familial Hypertrophic Cardiomyopathy
|
|
Hypertrophic Cardiomyopathy 1
|
CMH1
|
|
Hypertrophic Cardiomyopathy 19
|
CMH
|
|
Ventricular Hypertrophy, Hereditary
|
Ash
|
|
Hypertrophic Subaortic Stenosis, Idiopathic
|
Cardiomyopathy, Familial Hypertrophic
|
|
Cardiomyopathy, Hypertrophic, 1, Digenic
|
Cardiomyopathy, Familial Hypertrophic 1
|
|
Hcm
|
Hereditary Ventricular Hypertrophy
|
|
Idiopathic Hypertrophic Subaortic Stenosis
|
Hypertrophic Cardiomyopathy
|
|
Cardiomyopathy, Hypertrophic, Familial
|
Cardiomyopathy, Hypertrophic, 1
|
|
Familial Asymmetric Septal Hypertrophy
|
Heritable Hypertrophic Cardiomyopathy
|
|
Fhc
|
Cardiomyopathy, Hypertrophic, Familial, Type 1
|
|
|
| Hypertrophic Cardiomyopathy |
|
Hypertrophic Obstructive Cardiomyopathy
|
Cardiomyopathy, Hypertrophic
|
|
Cardiomyopathy Hypertrophic Obstructive
|
Cardiomyopathy, Hypertrophic, Familial
|
|
Idiopathic Myocardial Hypertrophy
|
Idiopathic Hypertrophic Cardiomyopathy
|
|
Obstructive Idiopathic Hypertrophic Cardiomyopathy
|
Obstructive Cardiomyopathy
|
|
Idiopathic Hypertrophic Subaortic Stenosis
|
Muscular Subaortic Stenosis
|
|
Hypertrophic Obstructive Subaortic Stenosis
|
|
|
