| 疾病名称 |
别名 |
|
| Joubert Syndrome 5 |
|
JBTS5
|
Joubert Syndrome, Type 5
|
|
|
| Senior-Loken Syndrome 6 |
|
SLSN6
|
Senior-Loken Syndrome, Type 6
|
|
|
| Bardet-Biedl Syndrome 14 |
|
BBS14
|
Bardet-Biedl Syndrome 14, Modifier Of
|
|
Bardet-Biedl Syndrome, Type 14
|
|
|
| Leber Congenital Amaurosis 10 |
|
LCA10
|
Leber Congenital Amaurosis, Type 10
|
|
|
| Meckel Syndrome, Type 4 |
|
Meckel Syndrome 4
|
MKS4
|
|
Meckel-Gruber Syndrome, Type 4
|
Meckel Syndrome Type 4
|
|
|
| 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
|
|
|
| Occipital Encephalocele |
|
|
| Encephalocele |
|
Cephalocele
|
Craniocele
|
|
Bifid Cranium
|
Cranium Bifidum
|
|
Encephaloceles
|
|
|
| Renal Dysplasia, Cystic |
|
CYSRD
|
Renal Dysplasia, Cystic, Susceptibility To
|
|
Diffuse Cystic Renal Dysplasia
|
Renal Dysplasia Diffuse Cystic
|
|
Cystic Renal Dysplasia
|
Susceptibility To Cystic Renal Dysplasia
|
|
Dysplasia, Renal, Cystic, Susceptibility To
|
Multicystic Dysplastic Kidney
|
|
|
| Night Blindness |
|
|
| 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
|
|
|
| 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
|
|
|
| Arima Syndrome |
|
Dekaban-Arima Syndrome
|
Joubert Syndrome With Bilateral Chorioretinal Coloboma
|
|
Cors
|
Cerebello-Oculo-Renal Syndrome
|
|
Cerebellooculorenal Syndrome
|
Js Type B
|
|
Js-Or
|
Joubert Syndrome 5
|
|
Joubert Syndrome With Senior-Loken Syndrome
|
Joubert Syndrome With Oculorenal Defect
|
|
Coloboma, Chorioretinal, With Cerebellar Vermis Aplasia
|
Cerebrooculohepatorenal Syndrome
|
|
Joubert Syndrome With Oculorenal Anomalies
|
Cerebro-Oculo-Hepato-Renal Syndrome
|
|
Chorioretinal Coloboma With Cerebellar Vermis Aplasia
|
Dekaban Arima Syndrome
|
|
Cor
|
Bj
|
|
Familial Aplasia Of The Vermis
|
|
|
| Meckel Syndrome, Type 6 |
|
Meckel Syndrome 6
|
MKS6
|
|
Meckel-Gruber Syndrome, Type 6
|
|
|
| Juvenile Nephronophthisis |
|
Nephronophthisis
|
Nephronophthisis, Familial Juvenile
|
|
|
| Nephronophthisis |
|
Medullary Cystic Disease
|
Medullary Cystic Kidney
|
|
Nph
|
Nphp
|
|
Kidney Disease, Cystic, Medullary
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
| Polycystic Kidney Disease |
|
Polycystic Kidney Diseases
|
Pkd
|
|
Polycystic Renal Disease
|
Kidney Disease, Polycystic
|
|
Polycystic Kidney, Autosomal Dominant
|
|
|
| Immunodeficiency 47 |
|
Congenital Disorder Of Glycosylation Type Ii
|
CDG2E
|
|
Congenital Disorder Of Glycosylation Type Iie
|
IMD47
|
|
Cdg2s
|
Cdg Iis
|
|
Cdgiis
|
Immunodeficiency And Hepatopathy With Or Without Neurologic Features
|
|
Congenital Disorder Of Glycosylation, Type Ii
|
CDG1I
|
|
Congenital Disorder Of Glycosylation, Type Iie
|
Cdg Iie
|
|
Congenital Disorder Of Glycosylation Type 2e
|
Congenital Disorder Of Glycosylation, Type Iis
|
|
Cdg Ii
|
Cdgii
|
|
Cdgiie
|
Carbohydrate Deficient Glycoprotein Syndrome Type Iie
|
|
Cdg Syndrome Type Iie
|
Congenital Disorder Of Glycosylation Ii
|
|
Congenital Disorder Of Glycosylation 1i
|
Cdg-Iie
|
|
Alg2-Cdg
|
Cdg-Ii
|
|
Glycosylation, Congenital Disorder Of, Type Ii
|
Cdgiide
|
|
Congenital Disorder Of Glycosylation Type Iis
|
Cog7-Cdg
|
|
Cdg Syndrome Type Ii
|
Carbohydrate Deficient Glycoprotein Syndrome Type Ii
|
|
Congenital Disorder Of Glycosylation Type 1i
|
Mannosyltransferase 2 Deficiency
|
|
Congenital Disorder Of Glycosylation 2e
|
Congenital Disorder Of Glycosylation 2s
|
|
Congenital Disorders Of Glycosylation Type Ii
|
Glycosylation, Congenital Disorder Of, Type Iie
|
|
Immunodeficiency, Type 47
|
Congenital Disorder Of Glycosylation Type 2a
|
|
|
| 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
|
|
|
| Spastic Ataxia |
|
|
| 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
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
| Bardet-Biedl Syndrome |
|
Bbs
|
Biedl-Bardet Syndrome
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| 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
|
|
|
| Hypotonia |
|
|
| Polydactyly |
|
Non-Syndromic Polydactyly
|
Polydactyly, Postaxial
|
|
Postaxial Polydactyly
|
Supernumerary Digit
|
|
Extra Digits
|
Hyperdactyly
|
|
Polydactylia
|
Polydactylism
|
|
Supernumerary Digits
|
|
|
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Simpson-Golabi-Behmel Syndrome Type 2
|
SGBS2
|
|
Simpson-Golabi-Behmel Syndrome 2
|
|
|
| Orofaciodigital Syndrome I |
|
OFD1
|
Orofaciodigital Syndrome 1
|
|
Oral-Facial-Digital Syndrome, Type I
|
Oral-Facial-Digital Syndrome 1
|
|
Ofds I
|
Papillon-Leage And Psaume Syndrome
|
|
Papillon-Leage-Psaume Syndrome
|
Oral-Facial-Digital Syndrome Type 1
|
|
Orofaciodigital Syndrome Type 1
|
Orofaciodigital Syndromes
|
|
Orofaciodigital Syndrome Type I
|
Oral-Facial-Digital Syndrome Type I
|
|
Ofd Syndrome 1
|
Ofds 1
|
|
Oral Facial Digital Syndrome 1
|
Oral Facial Digital Syndrome Type 1
|
|
Papillon-League-Psaume Syndrome
|
Ofdi
|
|
Ofdsi
|
Orofaciodigital Syndrome, Type I
|
|
|
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinoschisis
|
X-Linked Retinoschisis
|
|
X-Linked Juvenile Retinoschisis
|
RS1
|
|
XLRS1
|
X-Linked Juvenile Retinoschisis 1
|
|
Xlrs
|
Retinoschisis, X-Linked
|
|
Rs
|
Congenital X-Linked Retinoschisis
|
|
Degenerative Retinoschisis
|
Juvenile Retinoschisis
|
|
Xjr
|
Retinoschisis Juvenile X-Linked 1
|
|
Retinoschisis, Juvenile, X-Linked
|
Retinoschisis, Degenerative
|
|
|
| Leber Congenital Amaurosis 2 |
|
LCA2
|
Amaurosis Congenita Of Leber Ii
|
|
Amaurosis Congenita Of Leber, Type 2
|
Leber Congenital Amaurosis Type Ii
|
|
Leber Congenital Amaurosis, Type 2
|
Leber Congenital Amaurosis, Type Ii
|
|
|
| Apraxia |
|
|
| Leber Congenital Amaurosis 4 |
|
LCA4
|
Retinitis Pigmentosa, Juvenile
|
|
Cone-Rod Dystrophy
|
Leber Congenital Amaurosis, Type 4
|
|
Retinitis Pigmentosa
|
|
|
| Joubert Syndrome 2 |
|
Cerebellooculorenal Syndrome 2
|
JBTS2
|
|
Cors2
|
Cerebello-Oculo-Renal Syndrome 2
|
|
Joubert Syndrome, Type 2
|
|
|
| Leber Congenital Amaurosis 6 |
|
LCA6
|
Leber Congenital Amaurosis, Type 6
|
|
|
| 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
|
|
|
| Nephronophthisis 11 |
|
NPHP11
|
Nephronophthisis, Type 11
|
|
|
| Coach Syndrome 1 |
|
Coach Syndrome
|
Joubert Syndrome With Congenital Hepatic Fibrosis
|
|
Gentile Syndrome
|
Joubert Syndrome With Hepatic Defect
|
|
Js-H
|
COACH1
|
|
Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, And Hepatic Fibrosis
|
Cerebellar Vermis Hypoplasia-Oligophrenia-Congenital Ataxia-Coloboma-Hepatic Fibrosis
|
|
Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Ataxia Congenital, Coloboma, And Hepatic Fibrosis
|
Cerebellar Vermis Hypo/Aplasia Oligophrenia Congenital Ataxia Ocular Coloboma And Hepatic Fibrosis
|
|
|
| Eye Disease |
|
Eye Diseases
|
Abnormality Of The Eye
|
|
Toxoplasma Oculopathy
|
|
|
| Nephronophthisis 9 |
|
NPHP9
|
Nephronophthisis, Type 9
|
|
|
| Retinal Degeneration |
|
|
| Usher Syndrome, Type Iia |
|
Usher Syndrome Type 2a
|
USH2A
|
|
Usher Syndrome, Type 2a
|
Usher Syndrome Type Iia
|
|
Retinal Disease In Usher Syndrome Type Iia, Modifier Of
|
Us2
|
|
Ush2
|
Usher Syndrome 2a
|
|
Usher'S Syndrome Type 2a
|
Ushiia
|
|
|
| Bardet-Biedl Syndrome 4 |
|
BBS4
|
Bardet-Biedl Syndrome, Type 4
|
|
|
| Leber Congenital Amaurosis 3 |
|
LCA3
|
Retinitis Pigmentosa 94, Variable Age At Onset, Autosomal Recessive
|
|
Leber Congenital Amaurosis, Type 3
|
Leber Congenital Amaurosis Type 3
|
|
|
| Retinitis Pigmentosa 39 |
|
RP39
|
Retinitis Pigmentosa, Type 39
|
|
|
| Pseudopapilledema |
|
|
| Orofaciodigital Syndrome |
|
Oral-Facial-Digital Syndrome
|
Orofaciodigital Syndromes
|
|
Ofd
|
Oral Facial Digital Syndromes
|
|
Oral-Facial-Digital Syndromes
|
Dysplasia Linguofacialis
|
|
Ofds
|
Oro-Facio-Digital Syndrome
|
|
Orodigitofacial Dysostosis
|
Orodigitofacial Syndrome
|
|
Oral Facial Digital Syndrome
|
Orofaciodigital Syndrome I
|
|
|
| Renal-Hepatic-Pancreatic Dysplasia |
|
Ivemark'S Syndrome
|
Ivemark Ii Syndrome
|
|
Renohepaticopancreatic Dysplasia
|
|
|
| Leber Congenital Amaurosis 8 |
|
LCA8
|
Leber Congenital Amaurosis, Type 8
|
|
|
| Eye Degenerative Disease |
|
|
| Bardet-Biedl Syndrome 11 |
|
BBS11
|
Bardet-Biedl Syndrome
|
|
Bbs
|
Bardet-Biedl Syndrome, Type 11
|
|
|
| Nephronophthisis 19 |
|
NPHP19
|
Nephronophthisis, Type 19
|
|
|
| Choroid Disease |
|
Choroid Diseases
|
Abnormality Of The Choroid
|
|
|
| Nephronophthisis 2 |
|
NPHP2
|
Nph2
|
|
Nephronophthisis 2, Infantile
|
Infantile Nephronophthisis 2
|
|
Infantile Nephronophthisis
|
Nephronophthisis, Type 2
|
|
|
| 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
|
|
|
| Keratoconus |
|
Kc
|
Conical Cornea
|
|
Noninflammatory Corneal Thining
|
Bulging Cornea
|
|
Cornea Conical
|
Acquired Conus Of Cornea
|
|
|
| Retinitis Pigmentosa 2 |
|
RP2
|
X-Linked Retinitis Pigmentosa 2
|
|
Xlrp2
|
Xlrp-2
|
|
Retinitis Pigmentosa-2
|
Retinitis Pigmentosa, Type 2
|
|
|
| Hereditary Retinal Dystrophy |
|
Hereditary Retinal Dystrophies
|
|
|
| Cogan Syndrome |
|
Cogan'S Syndrome
|
Diffuse Interstitual Keratitis
|
|
Cogans Syndrome
|
Oculovestibuloauditory Syndrome
|
|
|
| Nephronophthisis 16 |
|
NPHP16
|
Nephronophthisis, Type 16
|
|
|
| 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
|
|
|
| Usher Syndrome Type 2 |
|
Ush2
|
Usher Syndrome Type Ii
|
|
|
| Physical Disorder |
|
|
| Macular Degeneration, Age-Related, 1 |
|
Macular Degeneration
|
Age-Related Macular Degeneration
|
|
Macular Degeneration, Age-Related
|
Age Related Macular Degeneration
|
|
Age Related Macular Degeneration 1
|
ARMD1
|
|
Senile Macular Degeneration
|
Maculopathy, Age-Related, 1
|
|
Macular Degeneration, Age-Related, Reduced Risk Of
|
Age Related Maculopathy 1
|
|
Age Related Maculopathies
|
Age Related Maculopathy
|
|
Senile Macular Retinal Degeneration
|
Macular Degeneration Of Retina
|
|
Age-Related Maculopathy
|
Amd
|
|
Armd
|
Age-Related Maculopathy, Susceptibility To
|
|
Maculopathy Age-Related
|
Macular Degeneration, Age-Related, 1, Susceptibility To
|
|
Maculopathy, Age-Related
|
Macular Degeneration, Age-Related, Type 1
|
|
Macular Degeneration, Age-Related, 2
|
|
|
| Choroideremia |
|
CHM
|
Tcd
|
|
Progressive Tapetochoroidal Dystrophy
|
Choroidal Sclerosis
|
|
Tapetochoroidal Dystrophy, Progressive
|
Progressive Choroidal Atrophy
|
|
Tapetochoroidal Dystrophy
|
|
|
| Achromatopsia |
|
Achm
|
Rod Monochromatism
|
|
Total Color Blindness
|
Rod Monochromacy
|
|
Monochromatism
|
Achromatism
|
|
Complete Or Incomplete Color Blindness
|
Pingelapese Blindness
|
|
Achromatopsia 1
|
Achromatopsia 2
|
|
Achromatopsia 3
|
|
|
| Cranioectodermal Dysplasia |
|
Sensenbrenner Syndrome
|
Levin Syndrome 1
|
|
Ced
|
Levin Syndrome
|
|
Dysplasia, Cranioectodermal
|
|
|
| Joubert Syndrome 24 |
|
|
| 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
|
|
|
| Enophthalmos |
|
|
| Color Blindness |
|
Color Vision Defect
|
Blindness Color
|
|
Colour Blindness
|
Colour Vision Deficiency
|
|
Color Vision Deficiency
|
Color Vision Defects
|
|
Defective Color Vision
|
Vision Defect, Color
|
|
Color-Vision Disease
|
Dyschromatopsia
|
|
|
| Coloboma Of Macula |
|
Coloboma
|
Congenital Ocular Coloboma
|
|
Microphthalmia, Isolated, With Coloboma
|
Agenesis Of Macula
|
|
Hereditary Macular Coloboma
|
Ocular Coloboma
|
|
Coloboma Of Eye
|
Macular Coloboma
|
|
Uveoretinal Coloboma
|
|
|
| Orofaciodigital Syndrome Vi |
|
OFD6
|
Varadi-Papp Syndrome
|
|
Varadi Syndrome
|
Joubert Syndrome With Orofaciodigital Defect
|
|
Orofaciodigital Syndrome Type 6
|
Orofaciodigital Syndrome 6
|
|
Oral-Facial-Digital Syndrome, Type Vi
|
Ofds Vi
|
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Polydactyly, Cleft Lip/Palate Or Lingual Lump, And Psychomotor Retardation
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Polydactyly Cleft Lip Palate Psychomotor Retardation
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Oral-Facial-Digital Syndrome Type 6
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Polydactyly-Cleft Lip/Palate-Psychomotor Retardation Syndrome
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Polydactyly - Cleft Lip/Palate - Psychomotor Retardation
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Váradi Syndrome
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Váradi-Papp Syndrome
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Joubert Syndrome With Oral-Facial-Digital Syndrome
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Oral-Facial-Digital Syndrome 6
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Joubert-Orofaciodigital Syndrome
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Orofaciodigital Syndrome, Type Vi
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| Cone Dystrophy |
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Retinal Cone Dystrophy
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Dystrophy, Cone
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Cone Dystrophy 3
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| Usher Syndrome |
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Deafness-Retinitis Pigmentosa Syndrome
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Dystrophia Retinae Pigmentosa-Dysostosis Syndrome
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Graefe-Usher Syndrome
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Hallgren Syndrome
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Usher'S Syndrome
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Retinitis Pigmentosa-Deafness Syndrome
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Retinitis Pigmentosa-Hearing Loss Syndrome
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Ush
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Usher Syndromes
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| Asphyxiating Thoracic Dystrophy |
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Jeune Thoracic Dystrophy
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Jeune Syndrome
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Asphyxiating Thoracic Dysplasia
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Short-Rib Thoracic Dysplasia With Or Without Polydactyly
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Thoracic Pelvic Phalangeal Dystrophy
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Asphyxiating Thoracic Chondrodystrophy
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Atd
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Chondroectodermal Dysplasia-Like Syndrome
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Infantile Thoracic Dystrophy
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Jeune Thoracic Dysplasia
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Thoracic Asphyxiant Dystrophy
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Thoracic-Pelvic-Phalangeal Dystrophy
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Short-Rib Thoracic Dysplasia Without Polydactyly
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Asphyxiating Thoracic Dystrophy Of The Newborn
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Asphyxiating Thorax Dystrophy
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| Late-Onset Retinal Degeneration |
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LORD
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Retinal Degeneration, Late-Onset, Autosomal Dominant
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Autosomal Dominant Late-Onset Retinal Degeneration
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Pigmentary Retinopathy
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Retinal Degeneration, Late-Onset
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Retinitis Pigmentosa
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| Cystic Kidney Disease |
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Renal Cyst
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Simple Renal Cyst
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Kidney Cysts
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Kidney Diseases, Cystic
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Renal Cysts
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Kidney Cyst
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Cystic Kidney
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Congenital Cystic Kidney Disease
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Cystic Kidney Diseases
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Bosniak 1 Cyst
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| Heart Disease |
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Heart Failure
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Congenital Heart Disease
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Heart Diseases
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Congenital Heart Defects
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Congenital Heart Defect
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Heart Malformation
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Congenital Anomaly Of Heart
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Heart Defect
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Heart-Congenital Defect
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Congenital Heart Disorder
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Heart Defects Congenital
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Heart Defects, Congenital
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Heart Defects
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Heart Disease, Congenital
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Disease, Heart, Congenital
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Congestive Heart Failure
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| Episodic Ataxia, Type 8 |
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Episodic Ataxia Type 8
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EA8
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Episodic Ataxia With Slurred Speech
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| Acrocallosal Syndrome |
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ACLS
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Schinzel Acrocallosal Syndrome
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Joubert Syndrome 12
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Schinzel Syndrome 1
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Acrocallosal Syndrome, Schinzel Type
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Hallux Duplication, Postaxial Polydactyly, And Absence Of Corpus Callosum
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Acs
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Absence Of Corpus Callosum With Unusual Facial Appearance, Mental Deficiency, Duplication Of The Halluces And Polydactyly
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Hallux Duplication Postaxial Polydactyly And Absence Of Corpus Callosum
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JBTS12
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Acrocallosal Syndrome
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| Visceral Heterotaxy |
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Situs Ambiguus
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Heterotaxia
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Heterotaxy Syndrome
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Heterotaxy
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Lateralization Defect
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Situs Ambiguous
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Left Isomerism
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Htx
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Ivemark Syndrome
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Right Isomerism
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Situs Ambiguus Viscerum
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Incomplete Situs Inversus
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Partial Situs Inversus
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Heterotaxy, Visceral
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Asplenia Syndrome
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Bilateral Left-Sidedness
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Polysplenia Syndrome
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Moller Syndrome
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| Refractive Error |
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| Retinal Disease |
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Retinal Diseases
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Retinal Disorder
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Retinal Disorders
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| Congenital Stationary Night Blindness |
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Night Blindness, Congenital Stationary
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Congenital Essential Nyctalopia
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Oguchi Disease
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Blindness, Night, Stationary, Congenital
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|
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| Vitelliform Macular Dystrophy |
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Best Disease
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Juvenile-Onset Vitelliform Macular Dystrophy
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Macular Dystrophy, Vitelliform
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Best Macular Dystrophy
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Vitelliform Dystrophy
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| Ellis-Van Creveld Syndrome |
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Chondroectodermal Dysplasia
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Mesoectodermal Dysplasia
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EVC
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Ellis Van Creveld Syndrome
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Mesodermic Dysplasia
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Ellis-Van Creveld Dysplasia
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|
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| Situs Inversus |
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Situs Inversus Viscerum
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Laterality Sequence
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Complete Transposition
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Siv
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| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Asphyxiating Thoracic Dystrophy 1
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Jeune Syndrome
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SRTD1
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Atd1
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Asphyxiating Thoracic Dystrophy Of The Newborn
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Jatd
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Jeune Asphyxiating Thoracic Dystrophy
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Thoracic-Pelvic-Phalangeal Dystrophy
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Atd
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Asphyxiating Thoracic Dystrophy
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Chondroectodermal Dysplasia-Like Syndrome
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Infantile Thoracic Dystrophy
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Jeune'S Syndrome
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Thoracic Pelvic Phalangeal Dystrophy
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Jeune Thoracic Dystrophy
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| Exudative Vitreoretinopathy |
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Familial Exudative Vitreoretinopathy
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Fevr
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Criswick-Schepens Syndrome
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Exudative Vitreoretinopathy, Familial
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Vitreoretinopathy, Exudative )
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Exudative Vitreoretinopathy 1
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|
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| Autosomal Dominant Polycystic Kidney Disease |
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Polycystic Kidney Disease, Adult Type
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Adpkd
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Polycystic Kidney Diseases
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Polycystic Kidney, Autosomal Dominant
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Congenital Biliary Ectasias
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Polycystic Kidney And Hepatic Disease 1
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Polycystic Kidney Disease, Autosomal Dominant
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Kidney, Polycystic, Disease, Autosomal Dominant
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Adult Polycystic Kidney Disease
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Polycystic Kidney, Adult Type
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Apckd - [Autosomal Polycystic Kidney Disease]
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| Usher Syndrome, Type I |
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USH1
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Usher Syndrome Type 1
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Us1
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Usher Syndrome, Type 1b
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Usher Syndrome Type 1e
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Retinitis Pigmentosa And Congenital Deafness
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Usher Syndrome, Type Ie
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USH1E
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Usher Syndrome, Type 1e
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Usher Syndrome, Type 1a
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Usher Syndrome, Type Ib
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Usher Syndrome Type 1b
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Usher Syndrome Type Ie
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Usher Syndrome Type I
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Usher 1
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Usher Syndrome, Type 1
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Ush1a
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Usher Syndrome, Type I, French Variety
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Usher Syndrome, Type Ia
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Usher Syndrome 1b
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USH1B
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Usher'S Syndrome Type 1b
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Usher Syndrome Type Ib
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Ushib
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| Primary Ciliary Dyskinesia |
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Immotile Cilia Syndrome
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Kartagener Syndrome
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Dextrocardia Bronchiectasis And Sinusitis
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Pcd
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Ciliary Motility Disorders
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Ciliary Motility Disorder
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Immotile Ciliary Syndrome
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Ciliary Dyskinesia Primary
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Ics
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Polynesian Bronchiectasis
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Dextrocardia-Bronchiectasis-Sinusitis Syndrome
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Immotile Cilia Syndrome, Kartagener Type
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Primary Ciliary Dyskinesia And Situs Inversus
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Primary Ciliary Dyskinesia, Kartagener Type
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Siewert Syndrome
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Dyskinesia, Ciliary, Primary
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|
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| Neuronal Ceroid Lipofuscinosis |
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Hereditary Ceroid Lipofuscinosis
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Batten Disease
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Ncl
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Neuronal Ceroid-Lipofuscinoses
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Lipofuscinosis, Ceroid, Neuronal
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Juvenile Neuronal Ceroid Lipofuscinosis
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Cerebromacular Dystrophy
|
Cerebromacular Degeneration
|
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Ceroid-Lipofuscinosis
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Ncl - [Neuronal Ceroid Lipofuscinosis]
|
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Amaurotic Familial Idiocy
|
Amaurotic Idiocy
|
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Amaurotic Idiot
|
Neuronal Lipofuscinosis
|
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Pigmentary Retinal Lipoid Neuronal Heredodegeneration
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