| 疾病名称 |
别名 |
|
| Joubert Syndrome 9 |
|
JBTS9
|
Joubert Syndrome, Type 9
|
|
|
| Meckel Syndrome, Type 6 |
|
Meckel Syndrome 6
|
MKS6
|
|
Meckel-Gruber Syndrome, Type 6
|
|
|
| Coach Syndrome 2 |
|
|
| Retinitis Pigmentosa 93 |
|
RP93
|
Retinitis Pigmentosa, Type 93
|
|
|
| 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
|
|
|
| Polydactyly |
|
Non-Syndromic Polydactyly
|
Polydactyly, Postaxial
|
|
Postaxial Polydactyly
|
Supernumerary Digit
|
|
Extra Digits
|
Hyperdactyly
|
|
Polydactylia
|
Polydactylism
|
|
Supernumerary Digits
|
|
|
| Anencephaly |
|
Aprosencephaly
|
Anencephalus
|
|
Congenital Absence Of Brain
|
Absence Of A Large Part Of The Brain And The Skull
|
|
Anencephalia
|
Anencephalic Monster
|
|
Brain Absence
|
Brain Agenesis
|
|
Brain Aplasia
|
Absent Brain
|
|
Anencephalic
|
Congenital Absence Of Cerebrum
|
|
Congenital Hemicrania
|
Incomplete Anencephaly
|
|
|
| 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
|
|
|
| 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
|
|
|
| Encephalocele |
|
Cephalocele
|
Craniocele
|
|
Bifid Cranium
|
Cranium Bifidum
|
|
Encephaloceles
|
|
|
| Oligohydramnios |
|
Oligohydramnios - Delivered
|
Antepartum Oligohydramnios
|
|
Delivered Oligohydramnios
|
Oligohydramnios, Antepartum Condition Or Complication
|
|
Deficient Liquor
|
Oligohydramnios, Unspecified Trimester
|
|
Reduced Liquor Volume
|
|
|
| Talipes Equinovarus |
|
Congenital Equinovarus
|
Congenital Talipes Equinovarus
|
|
Equinovarus
|
Congenital Varus Clubfoot
|
|
|
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
CCF
|
Familial Clubfoot Due To 5q31 Microdeletion
|
|
Familial Clubfoot Due To Pitx1 Point Mutation
|
Hereditary Clubfoot Due To Pitx1 Point Mutation
|
|
Hereditary Clubfoot Due To 5q31 Microdeletion
|
Talipes Equinovarus
|
|
Tev
|
Clubfoot, Congenital, With/Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
|
|
|
| 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
|
|
|
| Clubfoot |
|
Congenital Talipes Equinovarus
|
Congenital Clubfoot
|
|
Congenital Equinovarus
|
Equinovarus Deformity Of Foot
|
|
Club Foot
|
|
|
| Polycystic Kidney Disease |
|
Polycystic Kidney Diseases
|
Pkd
|
|
Polycystic Renal Disease
|
Kidney Disease, Polycystic
|
|
Polycystic Kidney, Autosomal Dominant
|
|
|
| Polydactyly, Postaxial, Type A1 |
|
Postaxial Polydactyly Type A
|
Polydactyly, Postaxial
|
|
Postaxial Polydactyly
|
PAPA1
|
|
Postaxial Polydactyly, Type A
|
Papa
|
|
Polydactyly, Postaxial, Types A1 And B
|
Postaxial Polydactyly Type B
|
|
Polydactyly Postaxial
|
Polydactyly, Postaxial A1
|
|
Polydactyly, Postaxial B
|
PAPB
|
|
Postaxial Polydactyly, Type A1/B
|
Polydactyly, Postaxial, Type A
|
|
Pyogenic Arthritis, Pyoderma Gangrenosum And Acne
|
Postaxial Polydactyly, Type B
|
|
|
| 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
|
|
|
| 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
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Retinitis Pigmentosa 69 |
|
RP69
|
Retinitis Pigmentosa, Type 69
|
|
|
| Nephronophthisis 11 |
|
NPHP11
|
Nephronophthisis, Type 11
|
|
|
| Joubert Syndrome 2 |
|
Cerebellooculorenal Syndrome 2
|
JBTS2
|
|
Cors2
|
Cerebello-Oculo-Renal Syndrome 2
|
|
Joubert Syndrome, Type 2
|
|
|
| Joubert Syndrome 5 |
|
JBTS5
|
Joubert Syndrome, Type 5
|
|
|
| Apraxia |
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
| Joubert Syndrome 13 |
|
JBTS13
|
Joubert Syndrome, Type 13
|
|
|
| Meckel Syndrome, Type 3 |
|
MKS3
|
Meckel Syndrome 3
|
|
Meckel-Gruber Syndrome, Type 3
|
Meckel Syndrome Type 3
|
|
|
| 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 |
|
Medullary Cystic Disease
|
Medullary Cystic Kidney
|
|
Nph
|
Nphp
|
|
Kidney Disease, Cystic, Medullary
|
|
|
| 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
|
|
Polydactyly, Cleft Lip/Palate Or Lingual Lump, And Psychomotor Retardation
|
Polydactyly Cleft Lip Palate Psychomotor Retardation
|
|
Oral-Facial-Digital Syndrome Type 6
|
Polydactyly-Cleft Lip/Palate-Psychomotor Retardation Syndrome
|
|
Polydactyly - Cleft Lip/Palate - Psychomotor Retardation
|
Váradi Syndrome
|
|
Váradi-Papp Syndrome
|
Joubert Syndrome With Oral-Facial-Digital Syndrome
|
|
Oral-Facial-Digital Syndrome 6
|
Joubert-Orofaciodigital Syndrome
|
|
Orofaciodigital Syndrome, Type Vi
|
|
|
| Joubert Syndrome 20 |
|
JBTS20
|
Joubert Syndrome, Type 20
|
|
|
| Nephronophthisis 19 |
|
NPHP19
|
Nephronophthisis, Type 19
|
|
|
| Joubert Syndrome 15 |
|
JBTS15
|
Joubert Syndrome, Type 15
|
|
|
| Bardet-Biedl Syndrome |
|
Bbs
|
Biedl-Bardet Syndrome
|
|
|
| Retinitis Pigmentosa 4 |
|
RP4
|
Retinitis Pigmentosa 4, Autosomal Dominant Or Recessive
|
|
Retinitis Pigmentosa, Rhodopsin-Related
|
Retinitis Pigmentosa, Type 4
|
|
|
| Retinitis Pigmentosa 54 |
|
RP54
|
Retinitis Pigmentosa, Type 54
|
|
|
| Retinitis Pigmentosa 39 |
|
RP39
|
Retinitis Pigmentosa, Type 39
|
|
|
| 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
|
|
|
| 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
|
|
|
| Cogan Syndrome |
|
Cogan'S Syndrome
|
Diffuse Interstitual Keratitis
|
|
Cogans Syndrome
|
Oculovestibuloauditory Syndrome
|
|
|
| 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
|
|
|
| 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
|
|
|
|
| Nephronophthisis 2 |
|
NPHP2
|
Nph2
|
|
Nephronophthisis 2, Infantile
|
Infantile Nephronophthisis 2
|
|
Infantile Nephronophthisis
|
Nephronophthisis, Type 2
|
|
|
| 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
|
|
|
| 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
|
|
|
| Cranioectodermal Dysplasia |
|
Sensenbrenner Syndrome
|
Levin Syndrome 1
|
|
Ced
|
Levin Syndrome
|
|
Dysplasia, Cranioectodermal
|
|
|
| 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
|
|
|
| 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
|
|
|
| Autosomal Recessive Intellectual Developmental Disorder |
|
Mental Retardation, Autosomal Recessive
|
Autosomal Recessive Mental Retardation
|
|
Autosomal Recessive Non-Syndromic Mental Retardation
|
Autosomal Recessive Non-Syndromic Intellectual Disability
|
|
|
| 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
|
|
|
| Situs Inversus |
|
Situs Inversus Viscerum
|
Laterality Sequence
|
|
Complete Transposition
|
Siv
|
|
|
| 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
|
|
|
