| 疾病名称 |
别名 |
|
| Cole-Carpenter Syndrome 1 |
|
CLCRP1
|
Bone Fragility With Craniosynostosis, Ocular Proptosis, Hydrocephalus, And Distinctive Facial Features
|
|
Cole-Carpenter Syndrome, Type 1
|
|
|
| Cole-Carpenter Syndrome |
|
Cole Carpenter Syndrome
|
Bone Fragility Craniosynostosis Proptosis Hydrocephalus
|
|
Bone Fragility With Craniosynostosis, Ocular Proptosis, Hydrocephalus, And Distinctive Facial Features
|
Bone Fragility-Craniosynostosis-Proptosis-Hydrocephalus Syndrome
|
|
|
| Osteogenesis Imperfecta, Type I |
|
Osteogenesis Imperfecta Type I
|
OI1
|
|
Oi, Type I
|
Osteogenesis Imperfecta Tarda
|
|
Osteogenesis Imperfecta With Blue Sclerae
|
Osteogenesis Imperfecta Type 1
|
|
Adair-Dighton Syndrome
|
Mild Osteogenesis Imperfecta
|
|
Non-Deforming Osteogenesis Imperfecta
|
Oi Type 1
|
|
Van Der Hoeve Syndrome
|
Classic Non-Deforming Oi With Blue Sclerae
|
|
Osteogenesis Imperfecta 1
|
Oi-I
|
|
Osteopenic Non-Fracture Syndrome
|
Osteogenesis Imperfecta, Mild
|
|
Osteogenesis Imperfecta
|
Lobstein'S Disease
|
|
|
| Abetalipoproteinemia |
|
Acanthocytosis
|
ABL
|
|
Bassen-Kornzweig Syndrome
|
Mtp Deficiency
|
|
Familial Hypobetalipoproteinemia
|
Abetalipoproteinaemia
|
|
Microsomal Triglyceride Transfer Protein Deficiency
|
Microsomal Triglyceride Transfer Protein Deficiency Disease
|
|
Abetalipoproteinemia Neuropathy
|
Apolipoprotein B Deficiency
|
|
Bassen-Kornzweig Disease
|
Betalipoprotein Deficiency Disease
|
|
Congenital Betalipoprotein Deficiency Syndrome
|
Homozygous Familial Hypobetalipoproteinemia
|
|
Fhbl
|
Bassen Kornzweig Syndrome
|
|
Hypobetalipoproteinemia, Familial
|
Hypobetalipoproteinemia
|
|
Hypobetalipoproteinemias
|
Hypobetalipoproteinemia, Familial, Apolipoprotein B
|
|
|
| Halothane Hepatitis |
|
|
| Pseudoachondroplasia |
|
PSACH
|
Pseudoachondroplastic Dysplasia
|
|
Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome
|
Spondyloepiphyseal Dysplasia, Pseudoachondroplastic
|
|
Pseudoachondroplastic Spondyloepiphyseal Dysplasia
|
Spondyloepiphyseal Dysplasia Pseudoachondroplastic
|
|
|
| Carpenter Syndrome 1 |
|
Carpenter Syndrome
|
Acrocephalopolysyndactyly Type Ii
|
|
Acps Ii
|
CRPT1
|
|
Acrocephalopolysyndactyly Type 2
|
Acrocephalosyndactyly, Type Ii
|
|
Acrocephalopolysyndactyly 2
|
Acps2
|
|
Acps 2
|
Type Ii Acrocephalosyndactyly
|
|
Carpenter Syndrome, Type 1
|
Apert-Crouzon Disease
|
|
|
| Cholera |
|
Vibrio Cholerae Infection
|
Cholera - Vibrio Cholerae
|
|
Cholera Due To Vibrio Cholerae
|
Vibrio Cholerae
|
|
Cholera Syndrome
|
Asiatic Cholera
|
|
Epidemic Cholera
|
|
|
| Hypobetalipoproteinemia, Familial, 1 |
|
Hypobetalipoproteinemia
|
Familial Hypobetalipoproteinemia 1
|
|
Familial Hypobetalipoproteinemia
|
FHBL1
|
|
Hypobetalipoproteinemia, Familial
|
Fhbl
|
|
Acanthocytosis With Hypobetalipoproteinemia
|
Hypobetalipoproteinemias
|
|
Hypobetalipoproteinemia, Normotriglyceridemic
|
Hypo-Beta-Lipoproteinemia
|
|
Hypobetalipoprotéinemia, Familial
|
Normotriglyceridemic Hypobetalipoproteinemia
|
|
Hypobetalipoproteinemia, Familial, Type 1
|
|
|
| Maxillary Sinus Inverted Papilloma |
|
Inverted Papilloma Of The Maxillary Sinus
|
|
|
| Maxillary Sinus Benign Neoplasm |
|
Neoplasm Of Maxillary Sinus
|
Tumor Of Maxillofacial Sinus
|
|
Maxillary Sinus Neoplasms
|
Maxillary Sinus Neoplasm
|
|
|
| Microcephaly 7, Primary, Autosomal Recessive |
|
MCPH7
|
Primary Autosomal Recessive Microcephaly 7
|
|
Microcephaly, Primary Autosomal Recessive, 7
|
|
|
| Outlet Dysfunction Constipation |
|
|
| Congenital Hypothyroidism |
|
Cretinism
|
Neonatal Hypothyroidism
|
|
Ch
|
Cht
|
|
Congenital Myxedema
|
Myxedema, Congenital
|
|
Endemic Cretinism
|
Congenital Iodine-Deficiency Syndrome
|
|
Fetal Iodine Deficiency Syndrome
|
Congenital Iodine-Deficiency Hypothyroidism Nos
|
|
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| Craniosynostosis |
|
Premature Closure Of Cranial Sutures
|
Craniostenosis
|
|
Craniosynostosis Syndrome
|
Cso
|
|
Craniosynostoses
|
Congenital Ossification Of Cranial Sutures
|
|
Congenital Ossification Of Sutures Of Skull
|
Craniostosis
|
|
Imperfect Fusion Of Skull
|
Congenital Imperfect Closure Skull
|
|
Imperfect Closure Skull
|
Premature Closure Cranium Sutures
|
|
Deficiency Of Craniofacial Axis
|
|
|
| Hydrocephalus |
|
Hydrocephalus, Nonsyndromic, Autosomal Recessive
|
Hydrocephalus, X-Linked
|
|
Hydrocephalus Adverse Event
|
Hydrocephaly Nos
|
|
|
| Cutis Laxa |
|
Generalized Elastolysis
|
Loose Skin
|
|
Dermatolysis
|
Dermatomegaly
|
|
Cutis Laxa Syndrome
|
|
|
| Cortical Deafness |
|
|
| Retinitis Pigmentosa 61 |
|
RP61
|
Retinitis Pigmentosa, Type 61
|
|
|
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like
|
Scd-Eds
|
|
EDSSPD3
|
Ehlers-Danlos Syndrome Spondylodysplastic Type 3
|
|
Ehlers-Danlos Syndrome, Spondylocheirodysplastic Type
|
Slc39a13-Related Spondylodysplastic Ehlers-Danlos Syndrome
|
|
Slc39a13-Related Speds
|
Slc39a13-Related Spondylodysplastic Eds
|
|
Spondylocheirodysplastic Ehlers-Danlos Syndrome
|
Speds-Slc39a13
|
|
Ehlers-Danlos Syndrome-Like Spondylocheirodysplasia
|
Ehlers-Danlos Syndrome, Spondylodysplastic, Type 3
|
|
|
| Brittle Bone Disorder |
|
Osteogenesis Imperfecta
|
Brittle Bone Disease
|
|
Fragilitas Ossium
|
Osteopsathyrosis
|
|
Lobstein Disease
|
Oi
|
|
Vrolik Disease
|
Lobstein'S Disease
|
|
Lobstein'S Syndrome
|
Vrolik'S Disease
|
|
Porak And Durante Disease
|
Glass Bone Disease
|
|
Osteogenesis Imperfecta, Dominant Perinatal Lethal
|
Osteogenesis Imperfecta, Recessive Perinatal Lethal
|
|
Brittle Bone Syndrome
|
Oi - [Osteogenesis Imperfecta]
|
|
Ossium Fragility
|
Osteitis Fragilitans
|
|
Bony Fragility
|
Blue Sclera With Fragility Of Bone And Deafness
|
|
White Blue Sclera - Fragility Of Bone - Deafness
|
|
|
| Osteogenesis Imperfecta, Type Xi |
|
Osteogenesis Imperfecta Type 11
|
OI11
|
|
Osteogenesis Imperfecta Type Xi
|
Oi, Type Xi
|
|
Osteogenesis Imperfecta 11
|
Oi Type Xi
|
|
Oi-Xi
|
|
|
| Osteochondrodysplasia |
|
Skeletal Dysplasia
|
Chondrodystrophy
|
|
Congenital Anomaly Of Cartilage
|
Osteochondrodysplasias
|
|
Cartilage Development Disorder
|
Osteochondrodysplasia Syndrome
|
|
Dysplasia, Skeletal
|
Mucopolysaccharidosis Iv
|
|
|
| Alzheimer Disease, Familial, 1 |
|
Alzheimer Disease
|
Alzheimer'S Disease
|
|
Presenile And Senile Dementia
|
AD1
|
|
Alzheimer Disease, Susceptibility To
|
Alzheimer Disease, Late-Onset, Susceptibility To
|
|
Alzheimer Disease 1, Familial
|
AD
|
|
Familial Alzheimer Disease
|
Alzheimer Disease, Late-Onset
|
|
Alzheimers Dementia
|
Alzheimer Dementia
|
|
Alzheimer Sclerosis
|
Alzheimer Syndrome
|
|
Alzheimer-Type Dementia
|
Dat
|
|
Primary Senile Degenerative Dementia
|
Sdat
|
|
Alzheimer Disease 1
|
Autosomal Dominant Alzheimer Disease
|
|
Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy
|
Late Onset Alzheimer Disease
|
|
Alzheimers Disease
|
Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
|
|
Late-Onset Alzheimers Disease
|
Alzheimer'S Disease Pathway Kegg
|
|
Dementia Due To Alzheimer'S Disease
|
Alzheimer Disease Type 1
|
|
Alzheimers
|
|
|
| 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
|
|
|
| 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
|
|
|
