DiseaseID 7258
无手足畸形
disease
Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal
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Disease: 1Formula: 7Herb: 12Symptom: 7Target: 22Links: 50
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 7258
- Core Entity Id
- 64028
- Source Entity Count
- 1
- Preferred Name
- Acheiropodia
- Name Cn
- 无手足畸形
- Name Pinyin
- Wu Shou Zu Ji Xing
- Name En
- Acheiropodia
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesWounds and Injuries; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
- Do Class
- disease of anatomical entitydisease of anatomical entity; genetic diseasegenetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Wounds and Injuries
- Hpo Class Name
- Do Class Name
- disease of anatomical entitygenetic diseasegenetic disease; disease of anatomical entity
- Disease Definition
- Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Acheiropodia
Role
preferred
Name
Larsen Syndrome, Dominant Type
Role
preferred
Name
Multiple Synostoses Syndrome 1
Role
preferred
Name
Multiple Synostoses Syndrome 2
Role
preferred
Name
Multiple Synostoses Syndrome 3
Role
preferred
Name
Tarsal-Carpal Coalition Syndrome
Role
preferred
Name
Autosomal Dominant Larsen Syndrome
Role
preferred
Name
BRACHYDACTYLY, TYPE B2 (disorder)
Role
preferred
Name
Chst3-Related Skeletal Dysplasia
Role
preferred
Name
STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (disorder)
Role
preferred
Name
Spondyloepiphyseal Dysplasia, Omani Type
Role
preferred
Name
Symphalangism-Brachydactyly Syndrome
Role
preferred
Name
Acheiropody
Role
alias
Name
Brachydactyly Type B2
Role
alias
Name
Brachydactyly, Type B2
Role
alias
Name
DEAFNESS-SYMPHALANGISM SYNDROME OF HERRMANN
Role
alias
Name
FACIOAUDIOSYMPHALANGISM SYNDROME
Role
alias
Name
Multiple Synostoses Syndrome
Role
alias
Name
Nog-Related-Symphalangism Spectrum Disorder
Role
alias
Name
SYNOSTOSES, MULTIPLE, WITH BRACHYDACTYLY
Role
alias
Name
SYNOSTOSIS OF TALUS AND CALCANEUS WITH SHORT STATURE
Role
alias
Name
SYNS1
Role
alias
Name
SYNS2
Role
alias
Name
SYNS3
Role
alias
Name
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Role
alias
Name
Stapes Ankylosis With Broad Thumbs And Toes
Role
alias
Name
TCC
Role
alias
Name
Tarsal Carpal Coalition Syndrome
Role
alias
Name
Teunissen-Cremers Syndrome
Role
alias
Name
WL SYNDROME
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS005851HBDIS007965HBDIS015108HBDIS015601HBDIS017835HBDIS018325HBDIS018775HBDIS019977HBDIS020325HBDIS027313
Omim
143095184460186400186500186570200500610017611377612961
Umls
C0175778C0265559C0342282C1832708C1861305C1861306C2751826C2931648C2931649
Icd10
Q74.8
Sym Map
SMDE00275SMDE00465SMDE00525SMDE01204SMDE01206SMDE02405SMDE04753SMDE10282
Do Class
DOID:630DOID:7
Dis Ge Net
C0265559C0342282C1832708C1837657C1861305C1866656C1969652C2751826C2931648C4551826
Orphanet
1412263463503931
Umls Sty
T019T047
Me Sh Class
C05C07C16C26
Etcm Disease
Multiple Synostoses Syndrome 1Multiple Synostoses Syndrome 2Multiple Synostoses Syndrome 3
Tcmbank Disease
11696126361760320204289672969631452392642459927
Itcmdb Generated
ITX-DISEASE-7767EFE4A77CITX-DISEASE-CB601B37CF69ITX-DISEASE-D1A162FCA409ITX-DISEASE-FAB8AB860D92
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Multiple Synostoses Syndrome 1 Details pageDisease Multiple Synostoses Syndrome 2 Details pageDisease Multiple Synostoses Syndrome 3 Details page
Do Class Name
disease of anatomical entitygenetic diseasegenetic disease; disease of anatomical entity
Disease Type
disease
Do Disease Class
disease of anatomical entitydisease of anatomical entity; genetic diseasegenetic disease
Umls Disease Type
Congenital AbnormalityDisease or Syndrome
Basic Information
Disease Name
Multiple Synostoses Syndrome 1
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Ear diseases
Disease Name
Multiple Synostoses Syndrome 2
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Ear diseases
Disease Name
Multiple Synostoses Syndrome 3
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Ear diseases
Disease Definition
Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distalCHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of mLarsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and diTarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesWounds and Injuries; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Wounds and Injuries
Umls Semantic Type Name
Congenital AbnormalityDisease or Syndrome