| 疾病名称 |
别名 |
|
| 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
|
|
|
| Amyotrophic Lateral Sclerosis 24 |
|
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
|
ALS24
|
|
{Amyotrophic Lateral Sclerosis, Susceptibility To, 24}
|
|
|
| Mohr Syndrome |
|
Ofd2
|
Orofaciodigital Syndrome Ii
|
|
Oral-Facial-Digital Syndrome Type 2
|
Ofds Ii
|
|
Oral-Facial-Digital Syndrome, Type Ii
|
Orofaciodigital Syndrome 2
|
|
Ofd Syndrome 2
|
Ofds 2
|
|
Oral Facial Digital Syndrome 2
|
Oral Facial Digital Syndrome Type 2
|
|
Orofaciodigital Syndrome Type 2
|
Oral-Facial-Digital Syndrome, Type 2
|
|
|
| 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
|
|
|
| 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
|
|
|
| Connective Tissue Disease |
|
Connective Tissue Diseases
|
Connective Tissue Disorder
|
|
Abnormality Of Connective Tissue
|
Disorder Of Connective Tissue
|
|
Connective Tissue Disorders
|
|
|
| Motor Neuron Disease |
|
Anterior Horn Cell Disease
|
Motor Neuron Diseases
|
|
Mnd - [Motor Neurone Disease]
|
Lou Gehrig Disease
|
|
Creeping Palsy
|
Creeping Paralysis
|
|
Bulbar Motor Neuron Disease
|
Bulbar Syndrome
|
|
Anterior Horn Cell Disorder
|
Hereditary Motor Neuron Disease
|
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic Lateral Sclerosis
|
ALS
|
|
Lou Gehrig Disease
|
Amyotrophic Lateral Sclerosis Type 1
|
|
Charcot Disease
|
ALS1
|
|
Amyotrophic Lateral Sclerosis, Susceptibility To
|
Fals
|
|
Lou Gehrig'S Disease
|
Mnd
|
|
Motor Neuron Disease
|
Familial Amyotrophic Lateral Sclerosis
|
|
Amyotrophic Lateral Sclerosis 1, Familial
|
Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
|
|
Motor Neuron Disease, Bulbar
|
Motor Neurone Disease
|
|
Amyotrophic Lateral Sclerosis With Dementia
|
Dementia With Amyotrophic Lateral Sclerosis
|
|
Motor Neuron Disease, Amyotrophic Lateral Sclerosis
|
Sclerosis, Lateral, Amyotrophic
|
|
Sclerosis, Lateral, Amyotrophic, Type 1
|
Amyotrophic Sclerosis
|
|
Als - [Amyotrophic Lateral Sclerosis]
|
Wasting Palsy
|
|
Amyotrophic Paralysis
|
Amyotrophy Lateral Sclerosis
|
|
Wasting Paralysis
|
Spinal Progressive Amyotrophy
|
|
Progressive Atrophic Paralysis
|
|
|
| Spondylometaphyseal Dysplasia, Axial |
|
Axial Spondylometaphyseal Dysplasia
|
SMDAX
|
|
Axial Smd
|
Smd Axial
|
|
Smd, Axial
|
Spondylometaphyseal Dysplasia Axial Type
|
|
Dysplasia, Spondylometaphyseal, Axial
|
|
|
| Polycystic Kidney Disease |
|
Polycystic Kidney Diseases
|
Pkd
|
|
Polycystic Renal Disease
|
Kidney Disease, Polycystic
|
|
Polycystic Kidney, Autosomal Dominant
|
|
|
| Polydactyly |
|
Non-Syndromic Polydactyly
|
Polydactyly, Postaxial
|
|
Postaxial Polydactyly
|
Supernumerary Digit
|
|
Extra Digits
|
Hyperdactyly
|
|
Polydactylia
|
Polydactylism
|
|
Supernumerary Digits
|
|
|
| Lateral Sclerosis |
|
Primary Lateral Sclerosis
|
Adult-Onset Primary Lateral Sclerosis
|
|
Adult-Onset Pls
|
Motor Neuron Disease
|
|
Pls
|
Pls - [Primary Lateral Sclerosis]
|
|
Lateral Spinal Sclerosis
|
Lateral Complete Paralysis
|
|
Lateral Incomplete Paralysis
|
Lateral Paralysis
|
|
|
| Ellis-Van Creveld Syndrome |
|
Chondroectodermal Dysplasia
|
Mesoectodermal Dysplasia
|
|
EVC
|
Ellis Van Creveld Syndrome
|
|
Mesodermic Dysplasia
|
Ellis-Van Creveld Dysplasia
|
|
|
| Achondrogenesis, Type Ia |
|
Achondrogenesis Type Ia
|
Achondrogenesis Type 1a
|
|
ACG1A
|
Achondrogenesis, Houston-Harris Type
|
|
Achondrogenesis Houston-Harris Type
|
Achondrogenesis 1a
|
|
Acg-Ia
|
|
|
| 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
|
|
|
| Myopathy, Myofibrillar, 6 |
|
Myofibrillar Myopathy 6
|
MFM6
|
|
Myopathy, Myofibrillar, Bag3-Related
|
Bag3-Related Myofibrillar Myopathy
|
|
Muscular Dystrophy, Selcen Type
|
Mfm Bag3-Related
|
|
Muscular Dystrophy Selcen Type
|
Myopathy Myofibrillar Bag3-Related
|
|
|
| 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
|
|
|
| Neuronopathy, Distal Hereditary Motor, Type Iib |
|
HMN2B
|
Hmn Iib
|
|
Neuropathy, Distal Hereditary Motor, Type Iib
|
Dhmn2b
|
|
Distal Hereditary Motor Neuropathy Type 2b
|
Distal Hereditary Motor Neuropathy Type Iib
|
|
Neuronopathy, Distal Hereditary Motor, Type 2b
|
Neuronopathy, Distal Hereditary Motor, 2b
|
|
Dhmn Ii
|
Neuropathy, Motor, Distal, Hereditary, Type 2b
|
|
|
| Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
|
| Uterine Adnexa Cancer |
|
|
| Frontotemporal Dementia |
|
Pallidopontonigral Degeneration
|
Frontotemporal Lobar Degeneration
|
|
Semantic Dementia
|
FTD
|
|
Frontotemporal Lobe Dementia
|
Multiple System Tauopathy With Presenile Dementia
|
|
Dementia, Frontotemporal
|
Frontotemporal Dementia With Parkinsonism
|
|
Mstd
|
Frontotemporal Lobar Degeneration With Tau Inclusions
|
|
Ftld With Tau Inclusions
|
Dementia, Frontotemporal, With Parkinsonism
|
|
Fldem
|
Ftdp17
|
|
Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex
|
Ddpac
|
|
Wilhelmsen-Lynch Disease
|
Wld
|
|
Ppnd
|
Dementia, Frontotemporal, With Or Without Parkinsonism
|
|
Semantic Primary Progressive Aphasia
|
Semantic Variant Ppa
|
|
Wilhemsen-Lynch Disease
|
Frontotemporal Dementia-Amyotrophic Lateral Sclerosis
|
|
Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17
|
Ftd-Als
|
|
Ftld
|
Pick Complex
|
|
Pick Disease Of The Brain
|
Frontotemporal Dementia With Parkinsonism-17
|
|
Grn-Related Frontotemporal Dementia
|
Frontotemporal Dementia With Motor Neuron Disease
|
|
Dementia In Fronto-Temporal Lobar Degeneration
|
Ftd - [Frontotemporal Dementia]
|
|
Temple Dementia
|
Frontal Lobe Dementia
|
|
|
| Cranioectodermal Dysplasia |
|
Sensenbrenner Syndrome
|
Levin Syndrome 1
|
|
Ced
|
Levin Syndrome
|
|
Dysplasia, Cranioectodermal
|
|
|
| Gastric Teratoma |
|
|
| 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
|
|
|
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
FTDALS1
|
Frontotemporal Dementia And/Or Motor Neuron Disease
|
|
Ftdmnd
|
Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia
|
|
Alsftd
|
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis
|
|
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1
|
Frontotemporal Dementia With Motor Neuron Disease
|
|
Ftdals
|
Ftd-Als
|
|
Ftd-Mnd
|
Frontotemporal Dementia With Amyotrophic Lateral Sclerosis
|
|
Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1
|
Amyotrophic Lateral Sclerosis/Frontotemporal Dementia
|
|
Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis
|
Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1
|
|
Frontotemporal Lobar Degeneration
|
Grn-Related Frontotemporal Dementia
|
|
|
| Bardet-Biedl Syndrome |
|
Bbs
|
Biedl-Bardet Syndrome
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Nephronophthisis |
|
Medullary Cystic Disease
|
Medullary Cystic Kidney
|
|
Nph
|
Nphp
|
|
Kidney Disease, Cystic, Medullary
|
|
|
| Osteochondrodysplasia |
|
Skeletal Dysplasia
|
Chondrodystrophy
|
|
Congenital Anomaly Of Cartilage
|
Osteochondrodysplasias
|
|
Cartilage Development Disorder
|
Osteochondrodysplasia Syndrome
|
|
Dysplasia, Skeletal
|
Mucopolysaccharidosis Iv
|
|
|
| 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
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
