| 疾病名称 |
别名 |
|
| Bardet-Biedl Syndrome 1 |
|
BBS1
|
Bardet-Biedl Syndrome 1, Modifier Of
|
|
Bardet-Biedl Syndrome
|
BBS
|
|
Bardet-Biedl Syndrome, Type 1
|
Laurence-Moon-Bardet-Biedl Syndrome
|
|
|
| Bardet-Biedl Syndrome |
|
Bbs
|
Biedl-Bardet Syndrome
|
|
|
| Usher Syndrome |
|
Deafness-Retinitis Pigmentosa Syndrome
|
Dystrophia Retinae Pigmentosa-Dysostosis Syndrome
|
|
Graefe-Usher Syndrome
|
Hallgren Syndrome
|
|
Usher'S Syndrome
|
Retinitis Pigmentosa-Deafness Syndrome
|
|
Retinitis Pigmentosa-Hearing Loss Syndrome
|
Ush
|
|
Usher Syndromes
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Polydactyly |
|
Non-Syndromic Polydactyly
|
Polydactyly, Postaxial
|
|
Postaxial Polydactyly
|
Supernumerary Digit
|
|
Extra Digits
|
Hyperdactyly
|
|
Polydactylia
|
Polydactylism
|
|
Supernumerary Digits
|
|
|
| Mckusick-Kaufman Syndrome |
|
MKKS
|
Hydrometrocolpos, Postaxial Polydactyly, And Congenital Heart Malformation
|
|
Hmcs
|
Kaufman-Mckusick Syndrome
|
|
Hydrometrocolpos Syndrome
|
Hydrometrocolpos-Postaxial Polydactyly Syndrome
|
|
Kaufman Mckusick Syndrome
|
Mckusick Kaufman Syndrome
|
|
Mks
|
|
|
| Bardet-Biedl Syndrome 17 |
|
BBS17
|
Bardet-Biedl Syndrome, Type 17
|
|
|
| Bardet-Biedl Syndrome 18 |
|
BBS18
|
Bardet-Biedl Syndrome, Type 18
|
|
|
| Laurence-Moon Syndrome |
|
LNMS
|
Laurence-Moon-Biedl Syndrome
|
|
|
| Bardet-Biedl Syndrome 3 |
|
BBS3
|
Bardet-Biedl Syndrome, Type 3
|
|
|
| Bardet-Biedl Syndrome 14 |
|
BBS14
|
Bardet-Biedl Syndrome 14, Modifier Of
|
|
Bardet-Biedl Syndrome, Type 14
|
|
|
| Bardet-Biedl Syndrome 6 |
|
BBS6
|
Bardet-Biedl Syndrome, Type 6
|
|
|
| Bardet-Biedl Syndrome 10 |
|
BBS10
|
Bardet-Biedl Syndrome
|
|
Bbs
|
Bardet-Biedl Syndrome, Type 10
|
|
|
| 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
|
|
|
| Asphyxiating Thoracic Dystrophy |
|
Jeune Thoracic Dystrophy
|
Jeune Syndrome
|
|
Asphyxiating Thoracic Dysplasia
|
Short-Rib Thoracic Dysplasia With Or Without Polydactyly
|
|
Thoracic Pelvic Phalangeal Dystrophy
|
Asphyxiating Thoracic Chondrodystrophy
|
|
Atd
|
Chondroectodermal Dysplasia-Like Syndrome
|
|
Infantile Thoracic Dystrophy
|
Jeune Thoracic Dysplasia
|
|
Thoracic Asphyxiant Dystrophy
|
Thoracic-Pelvic-Phalangeal Dystrophy
|
|
Short-Rib Thoracic Dysplasia Without Polydactyly
|
Asphyxiating Thoracic Dystrophy Of The Newborn
|
|
Asphyxiating Thorax Dystrophy
|
|
|
| 46,Xy Sex Reversal 7 |
|
SRXY7
|
46,Xy Sex Reversal, Partial Or Complete, Dhh-Related
|
|
46,Xy Gonadal Dysgenesis, Partial Or Complete, Dhh-Related
|
Gdxym
|
|
Gonadal Dysgenesis, Xy, Male-Limited
|
46xy Sex Reversal 7
|
|
Gonadal Dysgenesis, Xy, Male Limited
|
Complete Pure Gonadal Dysgenesis 46,Xy Type
|
|
Male-Limited Gonadal Dysgenesis 46,Xy
|
46,Xy Gonadal Dysgenesis, Complete Or Partial, Dhh-Related
|
|
|
| Bardet-Biedl Syndrome 11 |
|
BBS11
|
Bardet-Biedl Syndrome
|
|
Bbs
|
Bardet-Biedl Syndrome, Type 11
|
|
|
| Bardet-Biedl Syndrome 19 |
|
BBS19
|
Bardet-Biedl Syndrome, Type 19
|
|
|
| Retinal Degeneration |
|
|
| 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
|
|
|
| Arthrogryposis, Distal, Type 1c |
|
DA1C
|
Distal Arthrogryposis Type 1c
|
|
Arthrogryposis, Distal, 1c
|
|
|
| Chromosome 2q35 Duplication Syndrome |
|
Syndactyly
|
Syndactyly Type 1
|
|
Sdty1
|
Zygodactyly
|
|
Syndactyly, Type I
|
Sd1
|
|
Syndactyly, Type 1, With Or Without Craniosynostosis
|
Symphalangism
|
|
Non-Syndromic Syndactyly
|
Symphalangy
|
|
Webbing Of Digits
|
Syndactyly, Type 1
|
|
|
| Borjeson-Forssman-Lehmann Syndrome |
|
BFLS
|
Borj
|
|
Borjeson Syndrome
|
Mrxsbfl
|
|
Intellectual Deficiency-Epilepsy-Endocrine Disorders Syndrome
|
Intellectual Disability-Epilepsy-Endocrine Disorders Syndrome
|
|
Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type
|
Mental Retardation, Epilepsy, And Endocrine Disorders
|
|
Mental Retardation, Epilepsy, And Endocrine Disorder
|
Syndromic X-Linked Mental Retardation Borjeson-Forssman-Lehmann Type
|
|
Mental Deficiency, Epilepsy And Endocrine Disorders
|
Boerjeson-Forssman-Lehmann Syndrome
|
|
Borjeson-Forssman Syndrome
|
Mental Deficiency-Epilepsy- Endocrine Disorders
|
|
|
| Tetralogy Of Fallot |
|
TOF
|
Fallot Tetralogy
|
|
Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle
|
Tetrad Of Fallot
|
|
Fallot Tetrad
|
Fallot Disease
|
|
Fallot Complex
|
Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy
|
|
Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle
|
Interventricular Septal Defect, In Tetralogy Of Fallot
|
|
Ventricular Septal Defect With Obstructed Right Ventricular Outflow
|
Tof - [Tetralogy Of Fallot]
|
|
Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]
|
Pulmonary Atresia, Ventricular Septal Defect And Mapcas
|
|
Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
|
|
|
| Leptin Deficiency Or Dysfunction |
|
Morbid Obesity
|
Obesity Due To Congenital Leptin Deficiency
|
|
LEPD
|
Congenital Leptin Deficiency
|
|
Obesity, Morbid
|
Obesity, Morbid, Due To Leptin Deficiency
|
|
Severe Obesity
|
Obesity, Morbid, Nonsyndromic 1
|
|
Leptin Deficiency
|
Obesity, Severe, Due To Leptin Deficiency
|
|
Leptin
|
Morbid Obesity Due To Leptin Deficiency
|
|
Obesity Morbid
|
Leptin Dysfunction
|
|
|
| Cone Dystrophy |
|
Retinal Cone Dystrophy
|
Dystrophy, Cone
|
|
Cone Dystrophy 3
|
|
|
| Usher Syndrome Type 2 |
|
Ush2
|
Usher Syndrome Type Ii
|
|
|
| Heart Disease |
|
Heart Failure
|
Congenital Heart Disease
|
|
Heart Diseases
|
Congenital Heart Defects
|
|
Congenital Heart Defect
|
Heart Malformation
|
|
Congenital Anomaly Of Heart
|
Heart Defect
|
|
Heart-Congenital Defect
|
Congenital Heart Disorder
|
|
Heart Defects Congenital
|
Heart Defects, Congenital
|
|
Heart Defects
|
Heart Disease, Congenital
|
|
Disease, Heart, Congenital
|
Congestive Heart Failure
|
|
|
| Eye Degenerative Disease |
|
|
| 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
|
|
|
| Cranioectodermal Dysplasia |
|
Sensenbrenner Syndrome
|
Levin Syndrome 1
|
|
Ced
|
Levin Syndrome
|
|
Dysplasia, Cranioectodermal
|
|
|
| Nephronophthisis |
|
Medullary Cystic Disease
|
Medullary Cystic Kidney
|
|
Nph
|
Nphp
|
|
Kidney Disease, Cystic, Medullary
|
|
|
| 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
|
|
|
| Stargardt Disease |
|
Stargardt Disease 1
|
Stargardt Macular Dystrophy
|
|
Stargardt Disease-1
|
Juvenile Onset Macular Degeneration
|
|
Stargardt Macular Degeneration
|
Juvenile Macular Degeneration
|
|
Macular Dystrophy With Flecks, Type 1
|
Stgd
|
|
Fundus Flavimaculatus
|
Stargardt 1
|
|
Stargardts Disease
|
|
|
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Majewski Syndrome
|
SRTD6
|
|
Srps2a
|
Short Rib-Polydactyly Syndrome, Majewski Type
|
|
Polydactyly With Neonatal Chondrodystrophy, Type Ii
|
Short Rib-Polydactyly Syndrome Type Iia
|
|
Short Rib-Polydactyly Syndrome Type 2
|
Short Rib-Polydactyly Syndrome Type Ii
|
|
Short Rib-Polydactyly Syndrome, Type Ii
|
Srps, Type Ii
|
|
Short Rib-Polydactyly Syndrome, Type Iia
|
Polydactyly With Neonatal Chondrodystrophy Type 2
|
|
Srps Type 2
|
Short Rib-Polydactyly Syndrome Majewski Type
|
|
Polydactyly With Neonatal Chondrodystrophy Type Ii
|
Short Rib-Polydactyly Syndrome 2a
|
|
Srps Type Ii
|
|
|
| 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
|
|
|
| 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
|
|
|
| Situs Inversus |
|
Situs Inversus Viscerum
|
Laterality Sequence
|
|
Complete Transposition
|
Siv
|
|
|
| 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]
|
|
|
| Brachydactyly |
|
|
| Polycystic Kidney Disease |
|
Polycystic Kidney Diseases
|
Pkd
|
|
Polycystic Renal Disease
|
Kidney Disease, Polycystic
|
|
Polycystic Kidney, Autosomal Dominant
|
|
|
| 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
|
|
|
| Eye Disease |
|
Eye Diseases
|
Abnormality Of The Eye
|
|
Toxoplasma Oculopathy
|
|
|
| Hirschsprung Disease 1 |
|
Hirschsprung Disease
|
Aganglionic Megacolon
|
|
Hscr
|
Hirschsprung'S Disease
|
|
Congenital Megacolon
|
Congenital Intestinal Aganglionosis
|
|
Colonic Aganglionosis
|
Hirschsprung Disease, Susceptibility To, 1
|
|
Hirschsprung Disease, Protection Against
|
HSCR1
|
|
Mgc
|
Pelvirectal Achalasia
|
|
Total Intestinal Aganglionosis
|
Megacolon, Aganglionic
|
|
Macrocolon
|
Hscr 1
|
|
Hirschsprung Disease Type 1
|
Hirschsprung Disease, Type 1
|
|
Congenital Dilatation Of Colon
|
Aganglionosis
|
|
Congenital Aganglionic Megacolon
|
Aganglionosis Of Colon
|
|
Bowel Aganglionosis
|
Colon Aganglionosis
|
|
Hirschsprung Megacolon
|
|
|
