| 疾病名称 |
别名 |
|
| Joubert Syndrome 23 |
|
JBTS23
|
Joubert Syndrome, Type 23
|
|
|
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
|
| 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
|
|
|
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Jbts With Jatd
|
Joubert Syndrome With Jatd
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
| 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
|
|
|
| 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
|
|
|
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Asphyxiating Thoracic Dystrophy 1
|
Jeune Syndrome
|
|
SRTD1
|
Atd1
|
|
Asphyxiating Thoracic Dystrophy Of The Newborn
|
Jatd
|
|
Jeune Asphyxiating Thoracic Dystrophy
|
Thoracic-Pelvic-Phalangeal Dystrophy
|
|
Atd
|
Asphyxiating Thoracic Dystrophy
|
|
Chondroectodermal Dysplasia-Like Syndrome
|
Infantile Thoracic Dystrophy
|
|
Jeune'S Syndrome
|
Thoracic Pelvic Phalangeal Dystrophy
|
|
Jeune Thoracic Dystrophy
|
|
|
| Polydactyly |
|
Non-Syndromic Polydactyly
|
Polydactyly, Postaxial
|
|
Postaxial Polydactyly
|
Supernumerary Digit
|
|
Extra Digits
|
Hyperdactyly
|
|
Polydactylia
|
Polydactylism
|
|
Supernumerary Digits
|
|
|
| Ellis-Van Creveld Syndrome |
|
Chondroectodermal Dysplasia
|
Mesoectodermal Dysplasia
|
|
EVC
|
Ellis Van Creveld Syndrome
|
|
Mesodermic Dysplasia
|
Ellis-Van Creveld Dysplasia
|
|
|
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Asphyxiating Thoracic Dystrophy 3
|
Saldino-Noonan Syndrome
|
|
SRTD3
|
Atd3
|
|
Srps1
|
Srps3
|
|
Verma-Naumoff Syndrome
|
Srps2b
|
|
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
|
Short Rib-Polydactyly Syndrome, Type I
|
|
Polydactyly With Neonatal Chondrodystrophy, Type I
|
Polydactyly With Neonatal Chondrodystrophy, Type Iii
|
|
Short Rib-Polydactyly Syndrome, Type Iib
|
Short Rib-Polydactyly Syndrome Type 3
|
|
Polydactyly With Neonatal Chondrodystrophy Type Iii
|
Short Rib-Polydactyly Syndrome Type Iii
|
|
Short Rib-Polydactyly Syndrome Type 1
|
Short Rib-Polydactyly Syndrome, Saldino-Noonan Type
|
|
Majewski Syndrome
|
Short Rib-Polydactyly Syndrome, Type Iii
|
|
Type I Short Rib Polydactyly Syndrome
|
Srps Type 3
|
|
Short Rib Polydactyly Syndrome Verma Naumoff Type
|
Verma Naumoff Syndrome
|
|
Polydactyly With Neonatal Chondrodystrophy Type 1
|
Srps Type 1
|
|
Short Rib-Polydactyly Syndrome Saldino-Noonan Type
|
Jatd
|
|
Jeune Asphyxiating Thoracic Dystrophy
|
Jeune Syndrome 3
|
|
Polydactyly With Neonatal Chondrodystrophy Type I
|
Short Rib-Polydactyly Syndrome Type I
|
|
Short Rib-Polydactyly Syndrome Type Iib
|
Srps Type Iib
|
|
Srps Type Iii
|
|
|
| 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
|
|
|
| Endocrine-Cerebroosteodysplasia |
|
Endocrine-Cerebro-Osteodysplasia Syndrome
|
ECO
|
|
Eco Syndrome
|
|
|
| Fraser Syndrome 2 |
|
|
| 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
|
|
|
| Cranioectodermal Dysplasia |
|
Sensenbrenner Syndrome
|
Levin Syndrome 1
|
|
Ced
|
Levin Syndrome
|
|
Dysplasia, Cranioectodermal
|
|
|
| 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
|
|
|
| Weyers Acrofacial Dysostosis |
|
Curry-Hall Syndrome
|
Weyers Acrodental Dysostosis
|
|
WAD
|
Acrodental Dysostosis Of Weyers
|
|
Acrofacial Dysostosis, Weyers Type
|
Acrofacial Dysostosis Of Weyers
|
|
Curry Hall Syndrome
|
|
|
| Acrocallosal Syndrome |
|
ACLS
|
Schinzel Acrocallosal Syndrome
|
|
Joubert Syndrome 12
|
Schinzel Syndrome 1
|
|
Acrocallosal Syndrome, Schinzel Type
|
Hallux Duplication, Postaxial Polydactyly, And Absence Of Corpus Callosum
|
|
Acs
|
Absence Of Corpus Callosum With Unusual Facial Appearance, Mental Deficiency, Duplication Of The Halluces And Polydactyly
|
|
Hallux Duplication Postaxial Polydactyly And Absence Of Corpus Callosum
|
JBTS12
|
|
Acrocallosal Syndrome
|
|
|
|
| Short-Rib Thoracic Dysplasia 12 |
|
Beemer-Langer Syndrome
|
Type Iv Short Rib Polydactyly Syndrome
|
|
Short Rib-Polydactyly Syndrome Type 4
|
Short Rib-Polydactyly Syndrome, Beemer Type
|
|
SRTD12
|
Short Rib-Polydactyly Syndrome, Type Iv
|
|
Srps4
|
Srps Iv
|
|
Short Rib Syndrome, Beemer Type
|
Beemer Langer Syndrome
|
|
Srps Type 4
|
Short Rib Polydactyly Syndrome Beemer-Langer Type
|
|
Short Rib-Polydactyly Syndrome Beemer Type
|
Short Rib-Polydactyly Syndrome Type Iv
|
|
Short Rib-Polydactyly Syndrome, Beemer-Langer Type
|
|
|
| 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
|
|
|
| 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
|
|
|
| Nephronophthisis |
|
Medullary Cystic Disease
|
Medullary Cystic Kidney
|
|
Nph
|
Nphp
|
|
Kidney Disease, Cystic, Medullary
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
