| 疾病名称 |
别名 |
|
| Tarsal-Carpal Coalition Syndrome |
|
TCC
|
Tarsal Carpal Coalition Syndrome
|
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Nog-Related-Symphalangism Spectrum Disorder
|
|
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| Brachydactyly, Type B2 |
|
Brachydactyly Type B2
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BDB2
|
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Brachydactyly B2
|
|
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| Stapes Ankylosis With Broad Thumbs And Toes |
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Stapes Ankylosis With Broad Thumb And Toes
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Teunissen-Cremers Syndrome
|
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Ankylosis Of Stapes, Hyperopia, Broad Thumbs, Broad First Toes, And Syndactyly
|
Stapes Ankylosis Syndrome Without Symphalangism
|
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SABTS
|
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| Multiple Synostoses Syndrome 1 |
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Symphalangism-Brachydactyly Syndrome
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SYNS1
|
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Wl Syndrome
|
Deafness-Symphalangism Syndrome Of Herrmann
|
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Facioaudiosymphalangism Syndrome
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Synostoses Multiple With Brachydactyly
|
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Synostoses, Multiple, With Brachydactyly
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Symphalangism Brachydactyly Syndrome
|
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Synostoses Syndrome, Multiple, 1
|
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| Symphalangism, Proximal, 1a |
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SYM1A
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Sym1
|
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Cushing Symphalangism
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Hereditary Absence Of The Proximal Interphalangeal Joints
|
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Proximal Symphalangism 1a
|
Symphalangism, Proximal 1a
|
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Symphalangism, Proximal
|
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| Multiple Synostoses Syndrome |
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Symphalangism-Brachydactyly Syndrome
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Deafness-Hermann Type Symphalangism Syndrome
|
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Facio-Audio-Symphalangism
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Hearing Loss-Hermann Type Symphalangism Syndrome
|
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Wl Syndrome
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Multiple Synostosis Syndrome
|
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| Proximal Symphalangism |
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Cushing'S Symphalangism
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Symphalangism, Proximal
|
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Hereditary Absence Of Proximal Interphalangeal Joints
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Strasburger-Hawkins-Eldridge Syndrome
|
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Strasburger-Hawkins-Eldridge-Hargrave-Mckusick Syndrome
|
Symphalangism, Proximal, 1a
|
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Symphalangism, Proximal, 1b
|
Vessel'S Syndrome
|
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Symphalangism, Cushing Type
|
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| Ankylosis |
|
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| Fibrodysplasia Ossificans Progressiva |
|
Myositis Ossificans Progressiva
|
Progressive Myositis Ossificans
|
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FOP
|
Progressive Ossifying Myositis
|
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Myositis Ossificans
|
Stone Man Syndrome
|
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Man Of Stone
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Myositis Ossificans Progressive
|
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Diffuse Progressive Ossifying Polymyositis
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Fibrodysplasia Ossificans Congenita
|
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Myositis Ossificans Progressiva, Site Unspecified
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Münchmeyer Disease
|
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Fop - [Fibrodysplasia Ossificans Progressiva]
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Progressive Myositis Ossificans Calcification
|
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| Brachydactyly, Type B1 |
|
Brachydactyly Type B1
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Brachydactyly Type B
|
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BDB1
|
Brachydactyly, Type B
|
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Bdb
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Brachydactyly B1
|
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| Synostosis |
|
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| Synostoses, Tarsal, Carpal, And Digital |
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Calcaneonavicular Coalition
|
Multiple Synostosis Syndrome
|
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Synostoses, Tarsal, Carpal And Digital
|
|
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| Otosclerosis |
|
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| Brachydactyly |
|
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| Radioulnar Synostosis |
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Radio-Ulnar Synostosis Type 1
|
|
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| Sclerosteosis |
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Cortical Hyperostosis With Syndactyly
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Sost
|
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Cortical Hyperostosis-Syndactyly Syndrome
|
|
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| Esophageal Atresia |
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Tracheoesophageal Fistula
|
Congenital Atresia Of Esophagus
|
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Congenital Imperforate Esophagus
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Imperforate Esophagus
|
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Oesophageal Atresia
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Te Fistula
|
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Tef
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Tracheoesophageal Fistula With Or Without Esophageal Atresia
|
|
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| Craniosynostosis |
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Premature Closure Of Cranial Sutures
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Craniostenosis
|
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Craniosynostosis Syndrome
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Cso
|
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Craniosynostoses
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Congenital Ossification Of Cranial Sutures
|
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Congenital Ossification Of Sutures Of Skull
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Craniostosis
|
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Imperfect Fusion Of Skull
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Congenital Imperfect Closure Skull
|
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Imperfect Closure Skull
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Premature Closure Cranium Sutures
|
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Deficiency Of Craniofacial Axis
|
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| Osseous Heteroplasia, Progressive |
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Progressive Osseous Heteroplasia
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POH
|
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Osteoma Cutis
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Familial Ectopic Ossification
|
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Ectopic Ossification Familial Type
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Ectopic Ossification
|
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Heterotopic Ossification
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Ectopic Ossification, Familial
|
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Cutaneous Ossification
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Myositis Ossificans Progressiva
|
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Osteodermia
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Osteosis Cutis
|
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Ossification Heterotopic
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Heteroplasia, Osseous, Progressive
|
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Fibrodysplasia Ossificans Progressiva
|
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| Farsightedness |
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Hypermetropia
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Hyperopia
|
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Far-Sightedness
|
Farsighted
|
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Long-Sighted
|
Long-Sightedness
|
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| Humeroradial Synostosis |
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Humero-Radial Fusion
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Humero-Radial Synostosis
|
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Ramer Ladda Syndrome
|
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| Neural Tube Defects |
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Spina Bifida
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Neural Tube Defect
|
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NTD
|
Neural Tube Defects, Susceptibility To
|
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Spinal Dysraphism
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Spina Bifida, Susceptibility To
|
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Rachischisis
|
Cleft Spine
|
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Open Spine
|
Hydrocele Spinalis
|
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Neural Tube Defect Nos
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Sb - [Spina Bifida]
|
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Spinal Hernia Nos
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Spinal Fissure Nos
|
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| Pfeiffer Syndrome |
|
Infectious Mononucleosis
|
Acs5
|
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Craniofacial-Skeletal-Dermatologic Dysplasia
|
Acs V
|
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Noack Syndrome
|
Gammaherpesviral Mononucleosis
|
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Acrocephalosyndactyly Type 5
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Pfeiffer Syndrome Type 3
|
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Acrocephalosyndactyly, Type V
|
Glandular Fever
|
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Pfeiffer Type Acrocephalosyndactyly
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Pfeiffer Syndrome Type 2
|
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Acrocephalosyndactylia Type V
|
Filatov'S Disease
|
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Monocytic Angina
|
Mononucleosis
|
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Pfeiffer'S Disease
|
Acsv
|
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Acrocephalosyndactyly, Type 5
|
Craniofacial-Skeletal-Dermatologic Syndrome
|
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Pfeiffer Syndrome Type 1
|
Classic Pfeiffer Syndrome
|
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PS
|
Pfeiffer Syndrome Variant
|
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Dysplasia, Craniofacial-Skeletal-Dermatologic
|
Pfeiffer
|
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Kissing Disease
|
Infectious Adenitis
|
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Pfeiffer Disease
|
|
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| Brachydactyly, Type A2 |
|
Brachydactyly Type A2
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BDA2
|
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Mohr-Wriedt Type Brachydactyly
|
Brachymesophalangy Ii
|
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Brachymesophalangy Type 2
|
Brachymesophalangy 2
|
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Brachydactyly, Mohr-Wriedt Type
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Brachydactyly A2
|
|
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| Holoprosencephaly |
|
Holoprosencephaly Sequence
|
Hpe
|
|
Hpe - [Holoprosencephaly]
|
|
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| Acromesomelic Dysplasia 2b |
|
Fibular Hypoplasia And Complex Brachydactyly
|
Du Pan Syndrome
|
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AMD2B
|
Dupans
|
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Acromesomelic Dysplasia-2b
|
Fibular Aplasia-Complex Brachydactyly Syndrome
|
|
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| Sugarman Brachydactyly |
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Brachydactyly With Major Proximal Phalangeal Shortening
|
Brachydactyly Of The Hands And Feet With Duplication Of The First Toes
|
|
Sugarman-Hager-Kulik Syndrome
|
Orofaciodigital Syndrome 3
|
|
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| Brachydactyly, Type A1, C |
|
Brachydactyly Type A1c
|
BDA1C
|
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Brachydactyly A1, C
|
Brachydactyly A1c
|
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Brachydactyly Type A1 C
|
|
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| Chromosome 2q35 Duplication Syndrome |
|
Syndactyly
|
Syndactyly Type 1
|
|
Sdty1
|
Zygodactyly
|
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Syndactyly, Type I
|
Sd1
|
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Syndactyly, Type 1, With Or Without Craniosynostosis
|
Symphalangism
|
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Non-Syndromic Syndactyly
|
Symphalangy
|
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Webbing Of Digits
|
Syndactyly, Type 1
|
|
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| Bone Disease |
|
Bone Diseases
|
Skeletal Disease
|
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Skeletal Disorder
|
Disorder Of Skeletal System
|
|
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| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Eec Syndrome
|
Rudiger Syndrome 1
|
|
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 1
|
EEC1
|
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Eec Syndrome 1
|
Eec Syndrome-1
|
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Walker-Clodius Syndrome
|
Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
|
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Eec
|
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome
|
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Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
|
Ectrodactyly-Cleft Lip/Palate Syndrome
|
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Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Cleft Palate
|
Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
|
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Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome
|
Ectrodactyly-Cleft Lip-Palate Syndrome
|
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Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome
|
|
|
| Juvenile Polyposis Syndrome |
|
JPS
|
Juvenile Intestinal Polyposis
|
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Jip
|
Pji
|
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Juvenile Gastrointestinal Polyposis
|
Juvenile Polyposis
|
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Polyposis, Juvenile Intestinal
|
Polyposis, Familial, Of Entire Gastrointestinal Tract
|
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Polyposis Familial Of Entire Gastrointestinal Tract
|
Polyposis Juvenile Intestinal
|
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Polyposis Syndrome, Juvenile
|
|
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| Renal Fibrosis |
|
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| Osteoporosis |
|
Postmenopausal Osteoporosis
|
Osteoporosis, Postmenopausal
|
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Bone Mineral Density Quantitative Trait Locus
|
Bmnd
|
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Osteoporosis, Involutional
|
Osteoporosis, Susceptibility To
|
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Osteoporosis, Postmenopausal, Susceptibility
|
Bone Mineral Density Variation Qtl, Osteoporosis
|
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OSTEOP
|
Involutional Osteoporosis
|
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Senile Osteoporosis
|
Osteoporosis Postmenopausal
|
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Bone Mineral Density, Quantitative Trait Locus
|
Osteoporosis, Senile
|
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Idiopathic Osteoporosis
|
Bone Rarefaction Nos
|
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Type 1 Osteoporosis
|
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| Brachydactyly, Type A1 |
|
Brachydactyly Type A1
|
BDA1
|
|
Farabee-Type Brachydactyly
|
Farabee Type Brachydactyly
|
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Brachydactyly Farabee Type
|
Brachydactyly, Farabee Type
|
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Brachydactyly A1
|
Brachydactyly
|
|
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| Brachydactyly, Type C |
|
Brachydactyly Type C
|
BDC
|
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Brachydactyly Haws Type
|
Brachydactyly, Haws Type
|
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Brachydactyly C
|
|
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| Telogen Effluvium |
|
|
| Hereditary Mixed Polyposis Syndrome |
|
|
| Cleft Palate, Isolated |
|
Cleft Palate
|
Isolated Cleft Palate
|
|
CPI
|
Cp
|
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Palatoschisis
|
Cleft Palate Isolated
|
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Uranostaphyloschisis
|
Congenital Fissure Of Palate
|
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Cleft Of Secondary Palate
|
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| Dysostosis |
|
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| Germ Cell And Embryonal Cancer |
|
Germ Cell And Embryonal Neoplasm
|
|
|
| Prostate Cancer |
|
Prostate Carcinoma
|
Prostate Cancer, Familial
|
|
Prostate Neoplasm
|
Prostate Cancer, Somatic
|
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Prostate Cancer, Susceptibility To
|
Prostatic Cancer
|
|
Prostatic Neoplasms
|
Hereditary Prostate Cancer
|
|
Prostatic Neoplasm
|
Cancer Of Prostate
|
|
Carcinoma Of Prostate
|
Familial Prostate Cancer
|
|
Familial Prostate Carcinoma
|
Malignant Tumor Of Prostate
|
|
Malignant Neoplasm Of Prostate
|
Prostate Cancer, Familial, Susceptibility To
|
|
Malignant Tumor Of The Prostate
|
Ngp - New Growth Of Prostate
|
|
Tumor Of The Prostate
|
Prostate Cancer, Hereditary
|
|
Cancer Of The Prostate
|
Malignant Neoplasm Of The Prostate
|
|
Prostatic Carcinoma
|
PC
|
|
Prca
|
Cancer, Prostate
|
|
Malignant Prostatic Tumour
|
Malignant Tumour Of Prostate
|
|
Primary Prostate Cancer
|
Primary Malignant Neoplasm Of Prostate
|
|
Prostate Gland Cancer
|
|
|
| Bone Development Disease |
|
|
| Chromosomal Duplication Syndrome |
|
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| Orofacial Cleft |
|
|
| Robinow Syndrome, Autosomal Recessive 1 |
|
Robinow Syndrome, Autosomal Recessive
|
Autosomal Recessive Robinow Syndrome
|
|
Covesdem Syndrome
|
RRS1
|
|
Costovertebral Segmentation Defect-Mesomelia Syndrome
|
Rrs
|
|
Costovertebral Segmentation Defect With Mesomelia, Formerly
|
Covesdem Syndrome, Formerly
|
|
Costovertebral Segmentation Defect With Mesomelia
|
Robinow Syndrome Autosomal Recessive With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals
|
|
Robinow Syndrome Autosomal Recessive With Brachy-Syn-Polydactyly
|
Robinow Syndrome, Autosomal Recessive, With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals
|
|
Robinow Syndrome, Autosomal Recessive, With Brachy-Syn-Polydactyly
|
Robinow, Autosomal Recessive Syndrome, Type 1
|
|
|
| Severe Combined Immunodeficiency |
|
Scid
|
Severe Combined Immunodeficiency Disease
|
|
Combined T And B Cell Inborn Immunodeficiency
|
Immunodeficiency, Severe Combined
|
|
Scid - [Severe Combined Immunodeficiencies]
|
|
|
| Colonic Benign Neoplasm |
|
Colon Neoplasm
|
Colonic Mass
|
|
Colonic Tumor
|
Neoplasm Of Colon
|
|
Neoplasm Of The Colon
|
Colonic Neoplasms
|
|
Colon Cancer
|
Colon Carcinoma Nos
|
|
Colonic Cancer
|
Metastatic Colon Cancer Nos
|
|
|
| Hirschsprung Disease 1 |
|
Hirschsprung Disease
|
Aganglionic Megacolon
|
|
Hscr
|
Hirschsprung'S Disease
|
|
Congenital Megacolon
|
Congenital Intestinal Aganglionosis
|
|
Colonic Aganglionosis
|
Hirschsprung Disease, Susceptibility To, 1
|
|
Hirschsprung Disease, Protection Against
|
HSCR1
|
|
Mgc
|
Pelvirectal Achalasia
|
|
Total Intestinal Aganglionosis
|
Megacolon, Aganglionic
|
|
Macrocolon
|
Hscr 1
|
|
Hirschsprung Disease Type 1
|
Hirschsprung Disease, Type 1
|
|
Congenital Dilatation Of Colon
|
Aganglionosis
|
|
Congenital Aganglionic Megacolon
|
Aganglionosis Of Colon
|
|
Bowel Aganglionosis
|
Colon Aganglionosis
|
|
Hirschsprung Megacolon
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| 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
|
|
|
