DiseaseID 17411
骨质溶解
disease
Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anoma
Relationship Network
Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.
Click a node to open it in a new tab
Disease: 1Experiment: 1Formula: 11Herb: 12Symptom: 9Target: 20Links: 57
Arranging relationship network...
Record Fields
Scalar fields from the final disease record.
- Disease Id
- 17411
- Core Entity Id
- 75637
- Source Entity Count
- 2
- Preferred Name
- Osteolysis
- Name Cn
- 骨质溶解
- Name Pinyin
- Gu Zhi Rong Jie
- Name En
- Osteolysis
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesMusculoskeletal Diseases
- Do Class
- genetic disease
- Hpo Class
- Abnormality of the skeletal systemAbnormality of the skeletal system; Abnormality of limbs
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesMusculoskeletal Diseases
- Hpo Class Name
- Abnormality of limbs; Abnormality of the skeletal systemAbnormality of the skeletal system
- Do Class Name
- genetic disease
- Disease Definition
- Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anoma
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Osteolysis
Role
preferred
Name
Acro-Osteolysis
Role
preferred
Name
Acroosteolysis Dominant Type
Role
preferred
Name
Hajdu-Cheney Syndrome
Role
preferred
Name
Acroosteolysis
Role
preferred
Name
Serpentine Fibula Polycystic Kidney Syndrome
Role
preferred
Name
Acrodentoosteodysplasia
Role
alias
Name
Acroosteolysis With Osteoporosis And Changes In Skull And Mandible
Role
alias
Name
Arthrodentoosteodysplasia
Role
alias
Name
Breakdown of Bone
Role
alias
Name
Cheney Syndrome
Role
alias
Name
HJCYS
Role
alias
Name
Increased Bone Resorption
Role
alias
Name
Osteolytic Defects of Bones
Role
alias
Name
Osteolytic Defects of The Phalanges of The Hand
Role
alias
Name
SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME
Role
alias
Name
SFPKS
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0002797HP:0009771
Herb
HBDIS012364HBDIS012384HBDIS015660HBDIS020176HBDIS027754
Me Sh
D010014D030981D031845
Omim
102400102500
Umls
C0917715C0917990C1838257C2930971
Icd10
M89.5
Sym Map
SMDE02619SMDE02626SMDE05383
Do Class
DOID:630
Dis Ge Net
C0917715C0917990C1838257C2930971C4721411
Orphanet
955
Umls Sty
T046T047
Hpo Class
HP:0000924HP:0040064
Me Sh Class
C05C16
Etcm Disease
Acroosteolysis
Tcmbank Disease
156118658205662659573318705
Itcmdb Generated
ITX-DISEASE-2589AA63F170ITX-DISEASE-FFCF7F7F3225
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2v2
Suppress
0
Page Title
Disease Acroosteolysis Details page
Do Class Name
genetic disease
Disease Type
diseasephenotype
Hpo Class Name
Abnormality of limbs; Abnormality of the skeletal systemAbnormality of the skeletal system
Do Disease Class
genetic disease
Hpo Disease Class
Abnormality of the skeletal systemAbnormality of the skeletal system; Abnormality of limbs
Umls Disease Type
Disease or SyndromePathologic Function
Basic Information
Disease Name
Acroosteolysis
Anatomical Category
Bone diseases
Disease Definition
Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomaMSH2017_2016_08_12:A condition with congenital and acquired forms causing recurrent ulcers in the fingers and toes. The congenital form exhibits autosomal dominant inheritance; the acquired form is found in workers who handle VINYL CHLORIDE. When acro-osteolysis is accompanied by generalized OSTEOPOROSIS and skull deformations, it is called HAJDU-CHENEY SYNDROME.|HPO2016_07_04:Dissolution or degeneration of bone tissue of the phalanges of the hand. [HPO:curators]NCI2016_02D:A very rare inherited connective tissue disorder characterized by osteoporosis, skull deformities, short stature, and bone flexibility.|MSH2017_2016_08_12:Rare, autosomal dominant syndrome characterized by ACRO-OSTEOLYSIS, generalized OSTEOPOROSIS, and skull deformations.|JABL99:An osteolytic syndrome with skull deformities, characteristic facies, osteoporosis, premature loss of teeth, osteoporosis, joint laxity, short stature, dissolution of the terminal phalanges, haring loss, and a hoarse voice. Most patients have a normal mental development but some are mildly retarded.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesMusculoskeletal Diseases
Dis Ge Net Disease Type
diseasephenotype
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesMusculoskeletal Diseases
Umls Semantic Type Name
Disease or SyndromePathologic Function