| 疾病名称 |
别名 |
|
| Microvillus Inclusion Disease |
|
Congenital Microvillous Atrophy
|
Intractable Diarrhea Of Infancy
|
|
Congenital Familial Protracted Diarrhea With Enterocyte Brush-Border Abnormalities
|
Davidson Disease
|
|
Microvillous Inclusion Disease
|
Congenital Microvillus Atrophy
|
|
Mvid
|
Diarrhea 2 With Microvillus Atrophy
|
|
Mvd
|
Congenital Familial Protracted Diarrhea
|
|
Davidson'S Disease
|
Familial Enteropathy, Microvillus
|
|
Microvillus Atrophy, Congenital
|
Congenital Enteropathy
|
|
Familial Protracted Enteropathy
|
Microvillous Atrophy
|
|
Microvillus Atrophy With Diarrhea 2
|
Idi
|
|
|
| Open-Angle Glaucoma |
|
Glaucoma Simplex
|
Pigmentary Glaucoma
|
|
Wide-Angle Glaucoma
|
Glaucoma, Open-Angle
|
|
Open Angle Glaucoma
|
Glaucoma Open-Angle
|
|
Chronic Simple Glaucoma
|
Coag - [Chronic Open-Angle Glaucoma]
|
|
Csg - [Chronic Simple Glaucoma]
|
Poag - [Primary Open-Angle Glaucoma]
|
|
Oag - [Open-Angle Glaucoma]
|
Chronic Glaucoma
|
|
Chronic Open Angle Glaucoma
|
Simple Glaucoma
|
|
Chronic Noncongestive Glaucoma
|
Ltg - [Low Tension Glaucoma]
|
|
Noncongestive Glaucoma
|
Nonobstructive Glaucoma
|
|
Normal Pressure Glaucoma
|
Primary Low Tension Glaucoma
|
|
Low-Tension Glaucoma
|
Residual Stage Low Tension Glaucoma
|
|
Open Cleft Glaucoma
|
|
|
| Fanconi Renotubular Syndrome 1 |
|
Renal Fanconi Syndrome
|
Adult Fanconi Syndrome
|
|
FRTS1
|
Fanconi Renotubular Syndrome
|
|
Frts
|
Rfs
|
|
Fanconi Syndrome Without Cystinosis
|
Luder-Sheldon Syndrome
|
|
|
| Joubert Syndrome 30 |
|
JBTS30
|
Joubert Syndrome, Type 30
|
|
|
| Carpenter Syndrome 1 |
|
Carpenter Syndrome
|
Acrocephalopolysyndactyly Type Ii
|
|
Acps Ii
|
CRPT1
|
|
Acrocephalopolysyndactyly Type 2
|
Acrocephalosyndactyly, Type Ii
|
|
Acrocephalopolysyndactyly 2
|
Acps2
|
|
Acps 2
|
Type Ii Acrocephalosyndactyly
|
|
Carpenter Syndrome, Type 1
|
Apert-Crouzon Disease
|
|
|
| Congenital Diarrhea |
|
|
| Bardet-Biedl Syndrome 14 |
|
BBS14
|
Bardet-Biedl Syndrome 14, Modifier Of
|
|
Bardet-Biedl Syndrome, Type 14
|
|
|
| Legionnaire Disease |
|
Legionnaires' Disease
|
Legionnaires Disease
|
|
Legionnaire Disease, Susceptibility To
|
Legionella
|
|
Legionella Pneumonia
|
Infection By Legionella Pneumophilia
|
|
Legionnaire'S Disease
|
Legionellosis
|
|
Legionaire Disease, Susceptibility To
|
Legionnaires Pneumonia
|
|
|
| Joubert Syndrome 1 |
|
Joubert Syndrome
|
Jbts
|
|
Cerebellooculorenal Syndrome 1
|
JBTS1
|
|
Joubert-Boltshauser Syndrome
|
Cerebelloparenchymal Disorder Iv
|
|
Cpd4
|
Cors1
|
|
Joubert Syndrome And Related Disorders
|
Jsrd
|
|
Familial Aplasia Of The Vermis
|
Joubert Syndrome Related Disorders
|
|
Js
|
Cerebellar Vermis Agenesis
|
|
Cerebelloparenchymal Disorder 4
|
Agenesis Of Cerebellar Vermis
|
|
Cerebello-Oculo-Renal Syndrome
|
Cors
|
|
Joubert-Bolthauser Syndrome
|
Cpd Iv
|
|
Classic Joubert Syndrome
|
Joubert Syndrome Type A
|
|
Pure Joubert Syndrome
|
Cerebello-Oculo-Renal Syndrome 1
|
|
Joubert Syndrome-1
|
Joubert Syndrome, Type 1
|
|
Joubert'S Syndrome
|
|
|
| Legionellosis |
|
Legionella Infection
|
Pontiac Fever
|
|
Legionnaires' Disease
|
Infection By Legionella Pneumophilia
|
|
Legionella Pneumophila Infection
|
|
|
| Lowe Oculocerebrorenal Syndrome |
|
Lowe Syndrome
|
Oculocerebrorenal Syndrome
|
|
OCRL
|
Oculocerebrorenal Syndrome Of Lowe
|
|
Ocrl1
|
Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency
|
|
Lowe Disease
|
Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency
|
|
Cerebrooculorenal Syndrome
|
Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency
|
|
Lowe Oculo-Cerebro-Renal Dystrophy
|
Lowe Oculo-Cerebro-Renal Syndrome
|
|
Lowe Oculocerebrorenal Dystrophy
|
Low
|
|
Chromosome 11p Deletion Syndrome
|
Oculocerebrorenal Dystrophy
|
|
Cerebro-Oculorenal Dystrophy
|
Ocrl1 - [Oculocerebrorenal Syndrome]
|
|
Lowe-Terrey-Maclachlan Syndrome
|
Renal-Oculocerebrodystrophy
|
|
|
| Retinal Degeneration |
|
|
| Meckel Syndrome, Type 1 |
|
Meckel-Gruber Syndrome
|
Meckel Syndrome
|
|
Dysencephalia Splanchnocystica
|
Meckel Syndrome 1
|
|
MKS1
|
Mks
|
|
Gruber Syndrome
|
Meckel-Gruber Syndrome, Type 1
|
|
Mes
|
Dysencephalia Splachnocystica
|
|
Meckel Gruber Syndrome
|
Meckel Syndrome Type 1
|
|
|
| Glaucoma, Normal Tension |
|
Low Tension Glaucoma
|
Glaucoma, Normal Tension, Susceptibility To
|
|
Normal Tension Glaucoma
|
Ntg
|
|
Glaucoma, Normal Pressure
|
NPG
|
|
Glaucoma, Normal Pressure, Susceptibility To
|
Poag/Npg - [Normal Pressure Primary Open-Angle Glaucoma]
|
|
|
| Joubert Syndrome 3 |
|
JBTS3
|
Joubert Syndrome With Ocular Defect
|
|
Joubert Syndrome With Ocular Anomalies
|
Js-O
|
|
Joubert Syndrome With Retinopathy
|
Joubert Syndrome-3
|
|
Joubert Syndrome, Type 3
|
|
|
| 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
|
|
|
| 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
|
|
|
| Nephronophthisis |
|
Medullary Cystic Disease
|
Medullary Cystic Kidney
|
|
Nph
|
Nphp
|
|
Kidney Disease, Cystic, Medullary
|
|
|
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
FTDALS1
|
Frontotemporal Dementia And/Or Motor Neuron Disease
|
|
Ftdmnd
|
Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia
|
|
Alsftd
|
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis
|
|
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1
|
Frontotemporal Dementia With Motor Neuron Disease
|
|
Ftdals
|
Ftd-Als
|
|
Ftd-Mnd
|
Frontotemporal Dementia With Amyotrophic Lateral Sclerosis
|
|
Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1
|
Amyotrophic Lateral Sclerosis/Frontotemporal Dementia
|
|
Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis
|
Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1
|
|
Frontotemporal Lobar Degeneration
|
Grn-Related Frontotemporal Dementia
|
|
|
| Warburg Micro Syndrome 1 |
|
Warburg Micro Syndrome
|
Micro Syndrome
|
|
Warbm
|
WARBM1
|
|
Warburg Sjo Fledelius Syndrome
|
Warburg-Sjo-Fledelius Syndrome
|
|
Micro Syndrome 1
|
Microcephaly, Microcornea, Congenital Cataract, Intellectual Disability, Optic Atrophy And Hypogenitalism
|
|
|
| Cystic Kidney Disease |
|
Renal Cyst
|
Simple Renal Cyst
|
|
Kidney Cysts
|
Kidney Diseases, Cystic
|
|
Renal Cysts
|
Kidney Cyst
|
|
Cystic Kidney
|
Congenital Cystic Kidney Disease
|
|
Cystic Kidney Diseases
|
Bosniak 1 Cyst
|
|
|
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Autosomal Recessive Polycystic Kidney Disease
|
Arpkd
|
|
Polycystic Kidney Disease, Autosomal Recessive
|
Polycystic Kidney And Hepatic Disease 1
|
|
Pkhd1
|
PKD4
|
|
Polycystic Kidney Disease 4 With Or Without Hepatic Disease
|
Polycystic Kidney Disease, Infantile, Type I
|
|
Polycystic Kidney Disease, Infantile Type
|
Polycystic Kidney, Autosomal Recessive
|
|
Pkd3, Formerly
|
Polycystic Kidney Disease 4, With Or Without Hepatic Disease
|
|
Arpkd/Chf
|
Ar-Pkd
|
|
Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease
|
Infantile Polycystic Kidney Disease Type I
|
|
Pkd3
|
Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease
|
|
Polycystic Kidney Disease 3, Autosomal Dominant
|
|
|
| Senior-Loken Syndrome 1 |
|
Senior-Loken Syndrome
|
Renal Dysplasia And Retinal Aplasia
|
|
Renal-Retinal Syndrome
|
Loken-Senior Syndrome
|
|
Juvenile Nephronophthisis With Leber Amaurosis
|
SLSN1
|
|
Senior-Loken Syndrome-1
|
Loken Senior Syndrome
|
|
Senior Loken Syndrome
|
Renal Dysplasia Retinal Aplasia
|
|
Nephronophthisis With Retinal Dystrophy
|
Renal Dysplasia-Retinal Aplasia Syndrome
|
|
Slsn
|
|
|
| Glaucoma, Primary Open Angle |
|
Glaucoma 1, Open Angle, E
|
Primary Open Angle Glaucoma
|
|
POAG
|
Adult-Onset Primary Open Angle Glaucoma
|
|
Chronic Simple Glaucoma
|
GLC1E
|
|
Primary Open Angle Glaucoma 1e
|
Glaucoma, Open Angle, Primary
|
|
|
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Charcot-Marie-Tooth Disease Type 4
|
Charcot-Marie-Tooth Disease Type 4e
|
|
Hereditary Motor And Sensory Neuropathy
|
Cmt4e
|
|
CHN1
|
Hypomyelinating Neuropathy, Congenital, 1
|
|
Charcot-Marie-Tooth Neuropathy Type 4e
|
Neuropathy, Congenital Hypomyelinating, 1
|
|
Ar-Cmt1
|
Autosomal Recessive Demyelinating Charcot-Marie-Tooth
|
|
Cmt4
|
Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive
|
|
Hypomyelination, Severe Congenital
|
Charcot-Marie-Tooth Disease, Type 4e
|
|
Charcot-Marie-Tooth Neuropathy, Type 4e
|
Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy
|
|
Autosomal Recessive Congenital Hypomyelinating Neuropathy
|
Congenital Amyelinating Neuropathy
|
|
Congenital Hypomyelinating Neuropathy Autosomal Recessive
|
Neuropathy, Congenital Hypomyelinating Or Amyelinating
|
|
Severe Congenital Hypomyelination
|
Hereditary Sensory Motor Neuropathy
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive
|
Neuropathy, Hypomyelinating, Congenital, Type 1
|
|
Neuropathy, Motor And Sensory, Hereditary
|
Congenital Hypomyelinating Neuropathy
|
|
Hereditary Motor And Sensory Neuropathies
|
Hereditary Sensorimotor Neuropathy
|
|
Hmsn - [Hereditary Motor And Sensory Neuropathy]
|
Hsmn - [Hereditary Sensory And Motor Neuropathy]
|
|
Hereditary Motor And Sensory Neuropathy, Types I-Iv
|
|
|
| Polycystic Kidney Disease |
|
Polycystic Kidney Diseases
|
Pkd
|
|
Polycystic Renal Disease
|
Kidney Disease, Polycystic
|
|
Polycystic Kidney, Autosomal Dominant
|
|
|
| Visceral Heterotaxy |
|
Situs Ambiguus
|
Heterotaxia
|
|
Heterotaxy Syndrome
|
Heterotaxy
|
|
Lateralization Defect
|
Situs Ambiguous
|
|
Left Isomerism
|
Htx
|
|
Ivemark Syndrome
|
Right Isomerism
|
|
Situs Ambiguus Viscerum
|
Incomplete Situs Inversus
|
|
Partial Situs Inversus
|
Heterotaxy, Visceral
|
|
Asplenia Syndrome
|
Bilateral Left-Sidedness
|
|
Polysplenia Syndrome
|
Moller Syndrome
|
|
|
| Autosomal Dominant Polycystic Kidney Disease |
|
Polycystic Kidney Disease, Adult Type
|
Adpkd
|
|
Polycystic Kidney Diseases
|
Polycystic Kidney, Autosomal Dominant
|
|
Congenital Biliary Ectasias
|
Polycystic Kidney And Hepatic Disease 1
|
|
Polycystic Kidney Disease, Autosomal Dominant
|
Kidney, Polycystic, Disease, Autosomal Dominant
|
|
Adult Polycystic Kidney Disease
|
Polycystic Kidney, Adult Type
|
|
Apckd - [Autosomal Polycystic Kidney Disease]
|
|
|
| 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
|
|
|
| Bardet-Biedl Syndrome |
|
Bbs
|
Biedl-Bardet Syndrome
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
| 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
|
|
|
| Primary Ciliary Dyskinesia |
|
Immotile Cilia Syndrome
|
Kartagener Syndrome
|
|
Dextrocardia Bronchiectasis And Sinusitis
|
Pcd
|
|
Ciliary Motility Disorders
|
Ciliary Motility Disorder
|
|
Immotile Ciliary Syndrome
|
Ciliary Dyskinesia Primary
|
|
Ics
|
Polynesian Bronchiectasis
|
|
Dextrocardia-Bronchiectasis-Sinusitis Syndrome
|
Immotile Cilia Syndrome, Kartagener Type
|
|
Primary Ciliary Dyskinesia And Situs Inversus
|
Primary Ciliary Dyskinesia, Kartagener Type
|
|
Siewert Syndrome
|
Dyskinesia, Ciliary, Primary
|
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic Lateral Sclerosis
|
ALS
|
|
Lou Gehrig Disease
|
Amyotrophic Lateral Sclerosis Type 1
|
|
Charcot Disease
|
ALS1
|
|
Amyotrophic Lateral Sclerosis, Susceptibility To
|
Fals
|
|
Lou Gehrig'S Disease
|
Mnd
|
|
Motor Neuron Disease
|
Familial Amyotrophic Lateral Sclerosis
|
|
Amyotrophic Lateral Sclerosis 1, Familial
|
Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
|
|
Motor Neuron Disease, Bulbar
|
Motor Neurone Disease
|
|
Amyotrophic Lateral Sclerosis With Dementia
|
Dementia With Amyotrophic Lateral Sclerosis
|
|
Motor Neuron Disease, Amyotrophic Lateral Sclerosis
|
Sclerosis, Lateral, Amyotrophic
|
|
Sclerosis, Lateral, Amyotrophic, Type 1
|
Amyotrophic Sclerosis
|
|
Als - [Amyotrophic Lateral Sclerosis]
|
Wasting Palsy
|
|
Amyotrophic Paralysis
|
Amyotrophy Lateral Sclerosis
|
|
Wasting Paralysis
|
Spinal Progressive Amyotrophy
|
|
Progressive Atrophic Paralysis
|
|
|
