DiseaseID 6315
多指（趾）畸形
disease
Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental
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Disease: 1Formula: 7Herb: 12Symptom: 4Target: 24Links: 47
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 6315
- Core Entity Id
- 62947
- Source Entity Count
- 1
- Preferred Name
- Polydactyly
- Name Cn
- 多指（趾）畸形
- Name Pinyin
- Duo Zhi （ Zhi ） Ji Xing
- Name En
- Polydactyly
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesEye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesMusculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and SymptomsStomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
- Do Class
- disease of anatomical entitydisease of anatomical entity; genetic diseasedisease of anatomical entity; genetic disease; physical disorderphysical disorder
- Hpo Class
- Abnormality of the skeletal systemAbnormality of the skeletal system; Abnormality of limbs
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
- Hpo Class Name
- Abnormality of limbs; Abnormality of the skeletal systemAbnormality of the skeletal system
- Do Class Name
- disease of anatomical entitygenetic disease; disease of anatomical entitygenetic disease; disease of anatomical entity; physical disorderphysical disorder
- Disease Definition
- Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Polydactyly
Role
preferred
Name
Cleidocranial Dysplasia
Role
preferred
Name
Madelung Deformity
Role
preferred
Name
Polydactyly, Postaxial, Type A1
Role
preferred
Name
Polydactyly, Preaxial Iv
Role
preferred
Name
Accessory Carpal Bones
Role
preferred
Name
CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY
Role
preferred
Name
Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly
Role
preferred
Name
Crossed Polydactyly, Type I
Role
preferred
Name
Hexadactyly
Role
preferred
Name
Leri-Weill Dyschondrosteosis
Role
preferred
Name
Macrodactylia of Fingers
Role
preferred
Name
POLYDACTYLY, POSTAXIAL
Role
preferred
Name
POLYDACTYLY, PREAXIAL II (disorder)
Role
preferred
Name
POSTAXIAL POLYDACTYLY, TYPE B
Role
preferred
Name
Polydactyly, Preaxial 4
Role
preferred
Name
Postaxial Polydactyly Type A
Role
preferred
Name
Radioulnar Synostosis
Role
preferred
Name
Ramer Ladda Syndrome
Role
preferred
Name
Sprengel Deformity
Role
preferred
Name
Triphalangeal Thumb
Role
preferred
Name
Accessory Phalanx of The Thumb
Role
alias
Name
CCD
Role
alias
Name
CLCD
Role
alias
Name
CLEIDOCRANIAL DYSOSTOSIS
Role
alias
Name
CP1
Role
alias
Name
Congenital, Upward Displacement of The Scapula
Role
alias
Name
Digitalized Thumb
Role
alias
Name
Extra Wrist Bones
Role
alias
Name
Finger-Like Thumb
Role
alias
Name
Fused Forearm Bones
Role
alias
Name
High Scapula
Role
alias
Name
High Shoulder Blade
Role
alias
Name
Humeral Radial Synostosis
Role
alias
Name
Humeroradial Synostosis
Role
alias
Name
Leri-Weil Syndrome
Role
alias
Name
Macrodactyly of Finger
Role
alias
Name
Macrodactyly of Hands
Role
alias
Name
Madelung Wrist Deformity
Role
alias
Name
PAPA
Role
alias
Name
PAPA1
Role
alias
Name
PAPB
Role
alias
Name
POLYSYNDACTYLY, UNCOMPLICATED
Role
alias
Name
POSTAXIAL POLYDACTYLY, TYPE A
Role
alias
Name
Patterson Stevenson Syndrome
Role
alias
Name
Polydactyly, Preaxial Ii
Role
alias
Name
Polydactyly, Unspecified
Role
alias
Name
Postaxial Hexadactyly
Role
alias
Name
Postaxial Polydactyly
Role
alias
Name
Split-Foot Deformity With Mandibulofacial Dysostosis
Role
alias
Name
Sprengel Anomaly
Role
alias
Name
Supernumerary Carpal Bones
Role
alias
Name
Synostosis of Radius And Humerus
Role
alias
Name
Triphalangeal Thumb With Polysyndactyly
Role
alias
Name
Triphalangeal Thumbs
Role
alias
Name
Triphalangy of Thumb
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0000912HP:0001199HP:0002974HP:0003041HP:0003067HP:0004232HP:0005696HP:0010442HP:0100259HP:0100746
Herb
HBDIS000596HBDIS003724HBDIS003726HBDIS003728HBDIS004080HBDIS004081HBDIS004508HBDIS005351HBDIS005808HBDIS005858HBDIS007278HBDIS015677HBDIS017870HBDIS018419HBDIS018420HBDIS018421HBDIS018424HBDIS020162HBDIS022697HBDIS025992
Me Sh
D002973D017689
Omim
119600127300143050174200174500174700179300183700184400216330236400603596
Umls
C0008928C0152427C0152441C0220697C1838416C1861516C1868111C1868112C1868120C3887487C4282400
Icd10
Q69Q69.9Q74.0
Sym Map
SMDE00161SMDE02406SMDE04318SMDE10641SMDE12279
Do Class
DOID:0080015DOID:630DOID:7
Dis Ge Net
C0008928C0152427C0152438C0152441C0158761C0158763C0220697C0241397C0265309C0265609C0302246C1838416C1861516C1868111C1868112C1868114C1868120C2930865C3887487C4282400
Orphanet
1452
Umls Sty
T019T047
Hpo Class
HP:0000924HP:0040064
Me Sh Class
C05C07C11C16C23
Etcm Disease
Cleidocranial DysplasiaLeri-Weill Dyschondrosteosis
Tcmbank Disease
110861182912015131231624419474201282019321258226092279923223268962704528841299713159931618318662264568377
Itcmdb Generated
ITX-DISEASE-12A1E3504AFEITX-DISEASE-8E639870C71AITX-DISEASE-ADF98B71EDFFITX-DISEASE-C2D1B5362164ITX-DISEASE-C926557AA1F5ITX-DISEASE-F414D1771DD9
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Cleidocranial Dysplasia Details pageDisease Leri-Weill Dyschondrosteosis Details page
Do Class Name
disease of anatomical entitygenetic disease; disease of anatomical entitygenetic disease; disease of anatomical entity; physical disorderphysical disorder
Disease Type
disease
Hpo Class Name
Abnormality of limbs; Abnormality of the skeletal systemAbnormality of the skeletal system
Do Disease Class
disease of anatomical entitydisease of anatomical entity; genetic diseasedisease of anatomical entity; genetic disease; physical disorderphysical disorder
Hpo Disease Class
Abnormality of the skeletal systemAbnormality of the skeletal system; Abnormality of limbs
Umls Disease Type
Congenital AbnormalityDisease or Syndrome
Basic Information
Disease Name
Cleidocranial Dysplasia
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Oral diseases
Disease Name
Leri-Weill Dyschondrosteosis
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases
Disease Definition
Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dentalHPO2016_07_04:An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna. [HPO:probinson, pmid:12362035]NCI2016_02D:A congenital abnormality characterized by more than 5 digits on a hand or foot.|MSH2017_2016_08_12:A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits.|HPO2016_07_04:A congenital anomaly characterized by the presence of supernumerary fingers or toes. [HPO:probinson]SNOMEDCT_US_2016_09_01:In postaxial polydactyly type A the extra digit is well formed and articulates with the fifth or an extra metacarpal.|HPO2016_07_04:Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal. [HPO:probinson]
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesEye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesMusculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and SymptomsStomatognathic 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 AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or Syndrome