| 疾病名称 |
别名 |
|
| Nail-Patella Syndrome |
|
Turner-Kieser Syndrome
|
Onychoosteodysplasia
|
|
Fong Disease
|
NPS
|
|
Hereditary Onycho-Osteodysplasia
|
Nps1
|
|
Hereditary Onychoostedysplasia
|
Iliac Horn Syndrome
|
|
Nail Patella Syndrome
|
Turner-Kiser Syndrome
|
|
Arthro-Onychodysplasia
|
Nps 1
|
|
Osteo-Onychodysplasia
|
Hereditary Osteo-Onychodysplasia
|
|
Osterreicher Syndrome
|
Pelvic Horn Syndrome
|
|
Österreicher-Turner Syndrome
|
Nps - [Nail-Patella Syndrome]
|
|
Hood - [Hereditary Onycho-Osteodysplasia] Syndrome
|
|
|
| Focal Segmental Glomerulosclerosis 10 |
|
Nail-Patella-Like Renal Disease
|
Glomerular Basement Membrane Disease, Nail-Patella Syndrome Type
|
|
Salcedo Syndrome
|
FSGS10
|
|
Nplrd
|
Glomerulosclerosis, Focal Segmental, 10
|
|
Nail Patella Like Renal Disease
|
|
|
| Developmental And Epileptic Encephalopathy 4 |
|
DEE4
|
Epileptic Encephalopathy, Early Infantile, 4
|
|
Eiee4
|
Early Infantile Epileptic Encephalopathy 4
|
|
Stxbp1-Related Early-Onset Encephalopathy
|
Early Myoclonic Encephalopathy
|
|
Developmental And Epileptic Encephalopathy, 4
|
Stxbp1 Disorders
|
|
Stxbp1 Encephalopathy
|
Developmental And Epileptic Encephalopathy, Type 4
|
|
Early-Infantile Epileptic Encephalopathy 4
|
Stxbp1 Encephalopathy With Epilepsy
|
|
Stxbp1 Epileptic Encephalopathy
|
Stxbp1-Related Developmental And Epileptic Encephalopathy
|
|
Stxbp1-Related Epileptic Encephalopathy
|
Eme
|
|
Neonatal Epilepsy With Suppression-Burst Pattern
|
Encephalopathy, Epileptic, Early Infantile, Type 4
|
|
|
| Nephrotic Syndrome |
|
Finnish Congenital Nephrotic Syndrome
|
Ns - [Nephrotic Syndrome]
|
|
Nephrosis Syndrome
|
Nephrosis Nos
|
|
Glomerular Lesion Nephrosis
|
|
|
| Lipoid Nephrosis |
|
Minimal Change Disease
|
Minimal Change Glomerulonephritis
|
|
Nephrotic Syndrome With Lesion Of Minimal Change Glomerulonephritis
|
Nephrotic Syndrome With Lesion Of Minimal Change Nephrotic Syndrome
|
|
Idiopathic Minimal Change Nephrotic Syndrome
|
Mcns
|
|
Minimal Change Glomerulopathy
|
Minimal Change Nephrotic Syndrome
|
|
Nephrotic Syndrome Minimal Change
|
Nephrosis, Lipoid
|
|
Glomerulonephritis, Minimal Change
|
Nephrotic Syndrome, Minimal Change
|
|
|
| 9q33.3q34.11 Microdeletion Syndrome |
|
Del(9)(Q33.3q34.11)
|
Deletion 9q33.3q34.11
|
|
Monosomy 9q33.3q34.11
|
|
|
| Genitopatellar Syndrome |
|
GTPTS
|
Absent Patellae, Scrotal Hypoplasia, Renal Anomalies, Facial Dysmorphism, And Mental Retardation
|
|
Absent Patellae-Scrotal Hypoplasia-Renal Anomalies-Facial Dysmorphism-Intellectual Disability Syndrome
|
Gps
|
|
|
| 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
|
|
|
| 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
|
|
|
| Intraocular Pressure Quantitative Trait Locus |
|
Glaucoma
|
IOPQTL
|
|
Glaucoma, Susceptibility To
|
Postinfectious Glaucoma
|
|
Glaucoma With Ocular Inflammation
|
Glaucoma Secondary To Eye Inflammation
|
|
Traumatic Glaucoma
|
Glaucoma With Concussion Of Globe
|
|
Glaucoma Due To Ocular Trauma
|
Glaucoma Associated With Ocular Trauma
|
|
Glaucoma Secondary To Drugs
|
|
|
| Fabry Disease |
|
Alpha-Galactosidase A Deficiency
|
Anderson-Fabry Disease
|
|
Angiokeratoma Corporis Diffusum
|
Ceramide Trihexosidase Deficiency
|
|
Fabry Disease, Cardiac Variant
|
Fabry'S Disease
|
|
Hereditary Dystopic Lipidosis
|
Gla Deficiency
|
|
FD
|
Alpha Galactosidase Deficiency
|
|
Deficiency Of Melibiase
|
Angiokeratoma, Diffuse
|
|
Angiokeratoma Diffuse
|
Diffuse Angiokeratoma
|
|
|
| Frasier Syndrome |
|
|
| Schimke Immunoosseous Dysplasia |
|
Schimke Immuno-Osseous Dysplasia
|
SIOD
|
|
Immunoosseous Dysplasia, Schimke Type
|
Schimke Syndrome
|
|
Immunoosseous Dysplasia Schimke Type
|
Spondyloepiphyseal Dysplasia - Nephrotic Syndrome
|
|
Spondyloepiphyseal Dysplasia Nephrotic Syndrome
|
Spondyloepiphyseal Dysplasia-Nephrotic Syndrome
|
|
|
| End Stage Renal Disease |
|
End Stage Renal Failure
|
End-Stage Kidney Disease
|
|
Kidney Failure, Chronic
|
Chronic Kidney Disease Stage 5
|
|
|
| Pierson Syndrome |
|
Microcoria-Congenital Nephrotic Syndrome
|
Microcoria-Congenital Nephrosis Syndrome
|
|
PIERS
|
Microcoria - Congenital Nephrosis
|
|
Microcoria - Congenital Nephrotic Syndrome
|
PIERSS
|
|
|
| Denys-Drash Syndrome |
|
Drash Syndrome
|
DDS
|
|
Nephropathy, Wilms Tumor, And Genital Anomalies
|
Wilms Tumor And Pseudohermaphroditism
|
|
Wilms Tumor And Pseudo- Or True Hermaphroditism
|
Nephropathy Associated With Male Pseudohermaphroditism And Wilms' Tumor
|
|
Pseudohermaphroditism, Nephron Disorder And Wilms' Tumor
|
Wilms Tumor-Dsd Syndrome
|
|
Wilms Tumor-Disorder Of Sex Development Syndrome
|
|
|
| Ocular Pigment Dispersion With Or Without Glaucoma |
|
Pigment Dispersion Syndrome
|
Glaucoma-Related Pigment Dispersion Syndrome
|
|
OPDG
|
Pds
|
|
Glaucoma, Pigment-Dispersion Type
|
Gpds1
|
|
Pigment-Dispersion Type Glaucoma
|
Pigment-Dispersion Syndrome
|
|
Glaucoma, Open-Angle
|
|
|
| Sudden Infant Death Syndrome |
|
SIDS
|
Sudden Infant Death Syndrome, Susceptibility To
|
|
Cot Death
|
Crib Death
|
|
Sudden Death Of Nonspecific Cause In Infancy
|
Sudden Infant Death
|
|
Death, Sudden, Syndrome, Infant
|
|
|
| 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
|
|
|
| Familial Nephrotic Syndrome |
|
Congenital Nephrotic Syndrome
|
Nephrosis, Congenital
|
|
Finnish Congenital Nephrotic Syndrome
|
|
|
| Axenfeld-Rieger Syndrome |
|
Axenfeld Syndrome
|
Rieger Syndrome
|
|
Rieger Anomaly
|
Axenfeld Anomaly
|
|
Anomaly, Rieger'S
|
Hagedoom Syndrome
|
|
Rgs - Rieger Syndrome
|
Rieger'S Anomaly
|
|
Goniodysgenesis Hypodontia
|
Iridogoniodysgenesis With Somatic Anomalies
|
|
Ars
|
Axenfeld And Rieger Anomaly
|
|
Axra
|
Axrs
|
|
Rieger Eye Malformation Sequence
|
|
|
| Autosomal Recessive Alport Syndrome |
|
Alport Syndrome, Recessive Type
|
Alport Syndrome, Autosomal Recessive
|
|
Alport Syndrome Autosomal Recessive
|
Alport Syndrome Recessive Type
|
|
Nephropathy And Deafness
|
|
|
| Primary Congenital Glaucoma |
|
|
| Peters-Plus Syndrome |
|
Krause-Kivlin Syndrome
|
Peters Plus Syndrome
|
|
Peters Anomaly
|
Irido-Corneo-Trabecular Dysgenesis
|
|
PTRPLS
|
Peters Anomaly With Short-Limb Dwarfism
|
|
Peters Anomaly-Short Limb Dwarfism Syndrome
|
Peters Anomaly With Short Limb Dwarfism
|
|
Peters Congenital Glaucoma
|
Krause-Van Schooneveld-Kivlin Syndrome
|
|
Peters' Plus Syndrome
|
Peters'-Plus Syndrome
|
|
Anomaly Peters
|
|
|
| Char Syndrome |
|
Patent Ductus Arteriosus With Facial Dysmorphism And Abnormal Fifth Digits
|
CHAR
|
|
|
| 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
|
|
|
| Anterior Segment Dysgenesis |
|
Anterior Segment Developmental Anomaly
|
Anterior Segment Mesenchymal Dysgenesis
|
|
Corneal Opacification And Other Ocular Anomalies
|
Sclerocornea With Other Ocular Anomalies
|
|
Asmd
|
Asod
|
|
Anterior Segment Ocular Dysgenesis
|
Foxe3-Related Ocular Disorder
|
|
Familial Ocular Anterior Segment Mesenchymal Dysgenesis
|
Dysgenesis, Anterior Segment
|
|
Irido-Corneal Dysgenesis
|
Axenfeld-Rieger Syndrome, Type 3
|
|
|
| Galloway-Mowat Syndrome |
|
Galloway Mowat Syndrome
|
Galloway Syndrome
|
|
Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type
|
Microcephaly Nephrosis Syndrome
|
|
Microcephaly, Hiatal Hernia, And Nephrotic Syndrome
|
Nephrosis Neuronal Dysmigration Syndrome
|
|
Microcephaly-Hiatus Hernia-Nephrotic Syndrome
|
Nephrosis-Neuronal Dysmigration Syndrome
|
|
|
| Acromesomelic Dysplasia 2b |
|
Fibular Hypoplasia And Complex Brachydactyly
|
Du Pan Syndrome
|
|
AMD2B
|
Dupans
|
|
Acromesomelic Dysplasia-2b
|
Fibular Aplasia-Complex Brachydactyly Syndrome
|
|
|
| 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
|
|
|
| Keratitis, Hereditary |
|
Keratitis
|
Autosomal Dominant Keratitis
|
|
Hereditary Keratitis
|
Dominantly Inherited Keratitis
|
|
Keratitis Hereditary
|
KERH
|
|
|
| Sclerocornea |
|
Isolated Congenital Sclerocornea
|
|
|
| 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]
|
|
|
| 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
|
|
|
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Wagr Syndrome
|
11p Partial Monosomy Syndrome
|
|
Chromosome 11p13 Deletion Syndrome
|
Wilms Tumor, Aniridia, Genitourinary Anomalies And Mental Retardation Syndrome
|
|
11p Deletion Syndrome
|
Chromosome 11p Deletion Syndrome
|
|
Wagr Complex
|
Wilms Tumor-Aniridia-Genitourinary Anomalies-Intellectual Disability Syndrome
|
|
Deletion 11p13
|
WAGR
|
|
Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome
|
Chromosome 11p Deletion
|
|
11p Deletion
|
11p Monosomy
|
|
Deletion 11p
|
Monosomy 11p
|
|
Partial Monosomy 11p
|
Agr Triad
|
|
Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome
|
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome
|
|
Wagr Contiguous Gene Syndrome
|
Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome
|
|
Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome
|
Del(11)(P13)
|
|
Monosomy 11p13
|
Chromosome 11, Deletion 11p
|
|
|
| Pseudohermaphroditism |
|
Indeterminate Sex And Pseudohermaphroditism
|
|
|
| Glaucoma 3, Primary Congenital, A |
|
Buphthalmos
|
Glaucoma, Congenital
|
|
Congenital Glaucoma
|
Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, Or Adult Onset
|
|
GLC3A
|
Glc3
|
|
Buphthalmia
|
Primary Congenital Glaucoma
|
|
Glaucoma, Primary Open Angle, Juvenile-Onset
|
Simple Buphthalmos
|
|
Buphthalmus
|
Glaucoma, Primary Open Angle, Adult-Onset
|
|
Primary Congenital Glaucoma 3a
|
Primary Infantile Glaucoma Type 3a
|
|
Glaucoma 3a, Primary Congenital
|
Glaucoma, Congenital, Primary, Type 3a
|
|
Hydrophthalmos
|
Cystic Eyeball
|
|
|
| Congenital Central Hypoventilation Syndrome |
|
Cchs
|
Haddad Syndrome
|
|
Ondine Curse
|
Ondine Syndrome
|
|
Congenital Central Hypoventilation
|
Congenital Central Alveolar Hypoventilation Syndrome
|
|
Congenital Failure Of Autonomic Control
|
Ondine'S Curse
|
|
Primary Alveolar Hypoventilation
|
Ondine-Hirschsprung Disease
|
|
Central Congenital Hypoventilation Syndrome
|
Congenital Ondine Curse
|
|
Idiopathic Congenital Central Alveolar Hypoventilation
|
Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome
|
|
Ondine-Hirschsprung Syndrome
|
|
|
| Aniridia 1 |
|
Aniridia
|
Congenital Aniridia
|
|
AN1
|
An
|
|
Cataract With Late-Onset Corneal Dystrophy
|
Aplasia Of Iris
|
|
Absent Iris
|
Irideremia
|
|
Aniridia Ii, Formerly
|
An2, Formerly
|
|
An2
|
Aniridia Type Ii
|
|
Aniridia, Type 1
|
An-1
|
|
Absence Of Iris
|
Agenesis Of Iris
|
|
Congenital Absence Of Iris
|
Hereditary Aniridia
|
|
Sporadic Aniridia
|
|
|
| Vesicoureteral Reflux |
|
|
| Cakut |
|
Renal Or Urinary Tract Malformation
|
Congenital Anomalies Of Kidney And Urinary Tract
|
|
Congenital Anomaly Of Kidney And Urinary Tract
|
Congenital Anomalies Of The Kidney And Urinary Tract
|
|
Kidney And Urinary Tract, Anomalies, Congenital
|
Renal Hypodysplasia, Nonsyndromic, 1
|
|
|
