| 疾病名称 |
别名 |
|
| Achondrogenesis, Type Ib |
|
ACG1B
|
Achondrogenesis Type Ib
|
|
Achondrogenesis Type 1b
|
Achondrogenesis Ib
|
|
Achondrogenesis Fraccaro Type
|
Achondrogenesis, Fraccaro Type
|
|
Achondrogenesis, Parenti-Fraccaro Type
|
Achondrogenesis 1b
|
|
Acg-Ib
|
Fraccaro Achondrogenesis
|
|
|
| Atelosteogenesis, Type Ii |
|
De La Chapelle Dysplasia
|
AO2
|
|
Atelosteogenesis Type 2
|
Atelosteogenesis Type Ii
|
|
Aoii
|
Neonatal Osseous Dysplasia 1
|
|
Atelosteogenesis Ii
|
Neonatal Osseous Dysplasia I
|
|
Atelosteogenesis De La Chapelle Type
|
Atelosteogenesis, Type 2
|
|
Mcalister Dysplasia
|
Neonatal Osseous Dysplasia Type 1
|
|
Atelosteogenesis 2
|
Ao-Ii
|
|
Neonatal Osseous Dysplasia Type I
|
|
|
| Epiphyseal Dysplasia, Multiple, 4 |
|
EDM4
|
Multiple Epiphyseal Dysplasia 4
|
|
Multiple Epiphyseal Dysplasia With Clubfoot
|
Multiple Epiphyseal Dysplasia Type 4
|
|
Multiple Epiphyseal Dysplasia, Autosomal Recessive
|
Multiple Epiphyseal Dysplasia With Bilayered Patellae
|
|
Med4
|
Polyepiphyseal Dysplasia Type 4
|
|
Rmed
|
Autosomal Recessive Multiple Epiphyseal Dysplasia
|
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Multiple Epiphyseal Dysplasia With Bilateral Patellae
|
Epiphyseal Dysplasia Multiple 4
|
|
Multiple Epiphyseal Dysplasia With Double-Layered Patella
|
Dysplasia, Epiphyseal, Multiple, Type 4
|
|
|
| Diastrophic Dysplasia |
|
Diastrophic Dwarfism
|
DTD
|
|
Dd
|
Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant
|
|
Dysplasia, Diastrophic
|
Diastrophic Dysplasia Variant
|
|
|
| Osteochondrodysplasia |
|
Skeletal Dysplasia
|
Chondrodystrophy
|
|
Congenital Anomaly Of Cartilage
|
Osteochondrodysplasias
|
|
Cartilage Development Disorder
|
Osteochondrodysplasia Syndrome
|
|
Dysplasia, Skeletal
|
Mucopolysaccharidosis Iv
|
|
|
| 3mc Syndrome 2 |
|
3MC2
|
Ptosis Of Eyelids With Diastasis Recti And Hip Dysplasia
|
|
Oculo-Skeletal-Abdominal Syndrome
|
Osa Syndrome
|
|
Carnevale Syndrome
|
Carnevale Syndrome, Formerly
|
|
Carnevale Krajewska Fischetto Syndrome
|
3mc Syndrome, Type 2
|
|
|
| 3mc Syndrome |
|
Craniofacial-Ulnar-Renal Syndrome
|
Malpuech Facial Clefting Syndrome
|
|
Oculopalatoskeletal Syndrome
|
Carnevale Syndrome
|
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Michels Syndrome
|
Malpuech-Michels-Mingarelli-Carnevale Syndrome
|
|
Carnevale-Krajewska-Fischetto Syndrome
|
Craniosynostosis With Lid Anomalies
|
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Malpuech Syndrome
|
Mingarelli Syndrome
|
|
Oculo-Skeletal-Abdominal Syndrome
|
Osa Syndrome
|
|
Ptosis Of Eyelids With Diastasis Recti And Hip Dysplasia
|
Ptosis-Strabismus-Rectus Abdominis Diastasis
|
|
|
| Connective Tissue Disease |
|
Connective Tissue Diseases
|
Connective Tissue Disorder
|
|
Abnormality Of Connective Tissue
|
Disorder Of Connective Tissue
|
|
Connective Tissue Disorders
|
|
|
| Atelosteogenesis |
|
|
| Achondrogenesis |
|
|
| Multiple Epiphyseal Dysplasia |
|
Med
|
Polyepiphyseal Dysplasia
|
|
Edm
|
Epiphyseal Dysplasia, Multiple, 1
|
|
Epiphyseal Dysplasia, Multiple, 2
|
Epiphyseal Dysplasia, Multiple, 3
|
|
Epiphyseal Dysplasia, Multiple, 4
|
Epiphyseal Dysplasia, Multiple, 5
|
|
Epiphyseal Dysplasia, Multiple
|
Edm1
|
|
Edm2
|
Edm3
|
|
Edm4
|
Edm5
|
|
Epiphyseal Dysplasia, Fairbank Type
|
Epiphyseal Dysplasia, Ribbing Type
|
|
Multiple Epiphyseal Dysplasia, Autosomal Dominant
|
Multiple Epiphyseal Dysplasia, Autosomal Recessive
|
|
Rmed
|
Dysplasia, Epiphyseal, Multiple
|
|
Osteochondrodysplasias
|
|
|
| Spondylolysis |
|
|
| Pseudoachondroplasia |
|
PSACH
|
Pseudoachondroplastic Dysplasia
|
|
Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome
|
Spondyloepiphyseal Dysplasia, Pseudoachondroplastic
|
|
Pseudoachondroplastic Spondyloepiphyseal Dysplasia
|
Spondyloepiphyseal Dysplasia Pseudoachondroplastic
|
|
|
| Clubfoot |
|
Congenital Talipes Equinovarus
|
Congenital Clubfoot
|
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Congenital Equinovarus
|
Equinovarus Deformity Of Foot
|
|
Club Foot
|
|
|
| Otosclerosis |
|
|
| Pendred Syndrome |
|
Goiter-Deafness Syndrome
|
Deafness With Goiter
|
|
PDS
|
Thyroid Dyshormonogenesis 2b
|
|
Tdh2b
|
Autosomal Recessive Sensorineural Hearing Impairment And Goiter
|
|
Pendred'S Syndrome
|
Thyroid Hormonogenesis, Genetic Defect In, 2b
|
|
Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2b
|
Congenital Hypothyroidism Due To Dyshormonogenesis 2b
|
|
Genetic Defect In Thyroid Hormonogenesis 2b
|
Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, And Goiter
|
|
Goiter-Hearing Loss Syndrome
|
Goitre-Deafness Syndrome
|
|
Goitre Deafness
|
|
|
| Pseudodiastrophic Dysplasia |
|
PDD
|
Pseudodiastrophic Dwarfism
|
|
|
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Spondyloepiphyseal Dysplasia
|
Chst3-Related Skeletal Dysplasia
|
|
Humerospinal Dysostosis
|
Spondyloepiphyseal Dysplasia, Omani Type
|
|
Chondrodysplasia With Multiple Dislocations
|
SEDCJD
|
|
Hsd
|
Cdmd
|
|
Humero-Spinal Dysostosis
|
Kozlowski Celermajer Tink Syndrome
|
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Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type
|
Larsen Syndrome, Recessive Type
|
|
Humero-Spinal Dysostosis With Congenital Heart Disease
|
Omani Type
|
|
Sed
|
Chst3 Deficiency
|
|
Chst3-Related Dysplasia
|
Recessive Larsen Syndrome
|
|
Autosomal Recessive Larsen Syndrome
|
Sed With Luxations, Chst3 Type
|
|
Sed, Omani Type
|
Sdcd, Chst3 Type
|
|
Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type
|
Sed Omani Type
|
|
Spondyloepiphyseal Dysplasia Omani Type
|
Larsen Syndrome, Autosomal Recessive
|
|
Mucopolysaccharidosis Iv
|
Spondyloepiphyseal Dysplasia, Congenita
|
|
|
| Osteogenesis Imperfecta, Type Ix |
|
Osteogenesis Imperfecta Type 9
|
Osteogenesis Imperfecta Type Ix
|
|
OI9
|
Oi Type Ix
|
|
Osteogenesis Imperfecta Sillence Type Ii/Iii Without Abnormality Of Type I Collagen
|
Oi, Type Ix
|
|
Oi 9
|
Osteogenesis Imperfecta 9
|
|
Oi-Ix
|
|
|
| Epiphyseal Dysplasia, Multiple, 6 |
|
Multiple Epiphyseal Dysplasia 6
|
EDM6
|
|
Dysplasia, Epiphyseal, Multiple, Type 6
|
|
|
| Hypochondrogenesis |
|
Achondrogenesis Type Ii/Hypochondrogenesis
|
|
|
| Epiphyseal Dysplasia, Multiple, 5 |
|
EDM5
|
Multiple Epiphyseal Dysplasia 5
|
|
Bhmed
|
Multiple Epiphyseal Dysplasia Type 5
|
|
Multiple Epiphyseal Dysplasia, Matn3-Related
|
Microepiphyseal Dysplasia, Bilateral Hereditary
|
|
Bilateral Hereditary Microepiphyseal Dysplasia
|
Multiple Epiphyseal Dysplasia Matn3-Related
|
|
Epiphyseal Dysplasia Multiple 5
|
Multiple Epiphyseal Dysplasia, Matn3 Related
|
|
Bilateral Hereditary Micro-Epiphyseal Dysplasia
|
Med5
|
|
Polyepiphyseal Dysplasia Type 5
|
Dysplasia, Epiphyseal, Multiple, Type 5
|
|
|
| Netherton Syndrome |
|
NETH
|
Ns
|
|
Netherton Disease
|
Comel-Netherton Syndrome
|
|
Erythroderma, Ichthyosiform, With Hypotrichosis And Hyper-Ige
|
Bamboo Hair Syndrome
|
|
Ichthyosis Linearis Circumflexa
|
Ichthyosiform Erythroderma With Hypotrichosis And Hyper-Ige
|
|
Ilc
|
Nts
|
|
N Syndrome
|
|
|
| Desbuquois Dysplasia |
|
Desbuquois Syndrome
|
Micromelic Dwarfism With Vertebral And Metaphyseal Abnormalities And Advanced Carpotarsal Ossification
|
|
Dysplasia, Desbuquois
|
|
|
| Epiphyseal Dysplasia, Multiple, 1 |
|
EDM1
|
Multiple Epiphyseal Dysplasia 1
|
|
Multiple Epiphyseal Dysplasia Type 1
|
Med1
|
|
Multiple Epiphyseal Dysplasia Comp-Related
|
Polyepiphyseal Dysplasia Type 1
|
|
Multiple Epiphyseal Dysplasia, Comp-Related
|
Epiphyseal Dysplasia Multiple 1
|
|
Epiphyseal Dysplasia, Multiple 1
|
Dysplasia, Epiphyseal, Multiple, Type 1
|
|
|
| Bone Development Disease |
|
|
| Shox-Related Short Stature |
|
Idiopathic Familial Short Stature
|
|
|
| Larsen Syndrome |
|
LRS
|
Larsen Syndrome, Dominant Type
|
|
Dominant Larsen Syndrome
|
Autosomal Dominant Larsen Syndrome
|
|
Larsens Syndrome
|
|
|
| Achondrogenesis, Type Ii |
|
Achondrogenesis Type Ii
|
ACG2
|
|
Achondrogenesis, Langer-Saldino Type
|
Achondrogenesis Type 2
|
|
Chondrogenesis Imperfecta
|
Achondrogenesis, Type Ib, Formerly
|
|
Achondrogenesis, Type Ii Or Hypochondrogenesis
|
Achondrogenesis 2
|
|
Acg-Ii
|
Achondrogenesis-Hypochondrogenesis Type Ii
|
|
Achondrogenesis Langer-Saldino Type
|
Achondrogenesis-Hypochondrogenesis, Type Ii
|
|
Hypochondrogenesis
|
|
|
| Kniest Dysplasia |
|
Kniest Syndrome
|
Metatropic Dwarfism, Type Ii
|
|
Kniest Chondrodystrophy
|
Metatropic Dysplasia Type Ii
|
|
Swiss Cheese Cartilage Dysplasia
|
KD
|
|
Ks
|
Metatropic Dwarfism Type Ii
|
|
Dysplasia, Kniest
|
|
|
| Epiphyseal Dysplasia, Multiple, 2 |
|
EDM2
|
Multiple Epiphyseal Dysplasia 2
|
|
Dysplasia, Epiphyseal, Multiple, Type 2
|
|
|
| Spondyloepiphyseal Dysplasia Congenita |
|
SEDC
|
Sed Congenita
|
|
Spondyloepiphyseal Dysplasia, Congenital Type
|
Late Spondyloepiphyseal Dysplasia
|
|
Sed, Congenital Type
|
Congenital Spondyloepiphyseal Dysplasia
|
|
Spranger-Wiedemann Disease
|
Spondyloepiphyseal Dysplasia Congenital Type
|
|
Dysplasia, Spondyloepiphyseal, Congenita
|
Spondyloepiphyseal Dysplasia, Congenita
|
|
Spondyloepiphyseal Dysplasia Tarda, X-Linked
|
|
|
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
|
| Cerebellopontine Angle Tumor |
|
Cerebellopontine Angle Tumour
|
Neoplasm Of The Cerebellopontine Angle
|
|
|
| Schneckenbecken Dysplasia |
|
SHNKND
|
Chondrodysplasia, Lethal Neonatal, With Snail-Like Pelvis
|
|
Chondrodysplasia Lethal Neonatal With Snail Like Pelvis
|
Chondrodysplasia With Snail-Like Pelvis
|
|
Slc35d1-Cdg
|
Dysplasia, Schneckenbecken
|
|
|
| Brachyolmia |
|
|
| Spermatocele |
|
|
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Enlarged Vestibular Aqueduct
|
DFNB4
|
|
Neurosensory Nonsyndromic Recessive Deafness 4
|
Enlarged Vestibular Aqueduct Syndrome
|
|
Nsrd4
|
Autosomal Recessive Nonsyndromic Deafness 4
|
|
Dilated Vestibular Aqueduct
|
Dva
|
|
Enlarged Vestibular Aqueduct, Digenic
|
Autosomal Recessive Deafness 4 With Enlarged Vestibular Aqueduct
|
|
Large Vestibular Aqueduct Syndrome
|
Deafness, Autosomal Recessive, 4
|
|
Deafness Neurosensory Autosomal Recessive 4
|
Eva
|
|
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4
|
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4
|
|
Deafness, Autosomal Recessive, Type 4 , With Enlarged Vestibular Aqueduct
|
|
|
| Diarrhea |
|
Diarrhoea
|
Diarrhea Of Presumed Infectious Origin
|
|
|
| Osteoporosis |
|
Postmenopausal Osteoporosis
|
Osteoporosis, Postmenopausal
|
|
Bone Mineral Density Quantitative Trait Locus
|
Bmnd
|
|
Osteoporosis, Involutional
|
Osteoporosis, Susceptibility To
|
|
Osteoporosis, Postmenopausal, Susceptibility
|
Bone Mineral Density Variation Qtl, Osteoporosis
|
|
OSTEOP
|
Involutional Osteoporosis
|
|
Senile Osteoporosis
|
Osteoporosis Postmenopausal
|
|
Bone Mineral Density, Quantitative Trait Locus
|
Osteoporosis, Senile
|
|
Idiopathic Osteoporosis
|
Bone Rarefaction Nos
|
|
Type 1 Osteoporosis
|
|
|
| Distal Arthrogryposis |
|
Arthrogryposis Multiplex Congenita
|
Arthrogryposis
|
|
Congenital Multiple Arthrogryposis
|
Congenital Arthromyodysplasia
|
|
Fibrous Ankylosis Of Multiple Joints
|
Guerin-Stern Syndrome
|
|
Guérin-Stern Syndrome
|
Myodystrophia Fetalis Deformans
|
|
Otto Syndrome
|
Rocher-Sheldon Syndrome
|
|
Rossi Syndrome
|
Amc
|
|
Multiple Congenital Arthrogryposis
|
Arthrogryposis Syndrome
|
|
Arthrogryposis, Distal
|
Distal Arthrogryposis Syndrome
|
|
Freeman-Sheldon Syndrome
|
Arthrogryposis, Distal, Type 2b
|
|
Congenital Multiplex Arthrogryposis
|
Amyoplasia Congenita
|
|
Congenital Amyoplasia
|
Amc - [Arthrogryposis Multiplex Congenita]
|
|
|
| Brachydactyly |
|
|
| Orofacial Cleft |
|
|
