DiseaseID 6311
软骨成长不全
disease
Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a shor
Relationship Network
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Disease: 1Formula: 6Herb: 6Symptom: 4Target: 33Links: 51
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 6311
- Core Entity Id
- 62943
- Source Entity Count
- 1
- Preferred Name
- Achondrogenesis
- Name Cn
- 软骨成长不全
- Name Pinyin
- Ruan Gu Cheng Zhang Bu Quan
- Name En
- Achondrogenesis
- 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 DiseasesEye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
- Do Class
- disease of anatomical entity; genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
- Hpo Class Name
- Do Class Name
- genetic disease; disease of anatomical entity
- Disease Definition
- Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a shor
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Achondrogenesis
Role
preferred
Name
Achondrogenesis Type 2
Role
preferred
Name
Achondrogenesis, Type Ii
Role
preferred
Name
Hypochondrogenesis
Role
preferred
Name
Achondrogenesis Type 1B
Role
preferred
Name
Achondrogenesis, Type Ia
Role
preferred
Name
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Role
preferred
Name
ACG2
Role
alias
Name
ACHONDROGENESIS, LANGER-SALDINO TYPE
Role
alias
Name
ACHONDROGENESIS, TYPE IB, FORMERLY
Role
alias
Name
Achondrogenesis Type Ii
Role
alias
Name
CHONDROGENESIS IMPERFECTA
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS000023HBDIS004503HBDIS010012HBDIS016897
Omim
200610
Umls
C0220685C0265273C0265274C0542428
Icd10
Q77.0
Sym Map
SMDE02134SMDE03210SMDE04582SMDE04602SMDE09691
Do Class
DOID:630DOID:7
Dis Ge Net
C0001079C0220685C0542428C1852989
Orphanet
932969329893299
Umls Sty
T019T047
Me Sh Class
C05C11C16
Etcm Disease
AchondrogenesisAchondrogenesis, Type IaAchondrogenesis, Type Ii
Tcmbank Disease
1879023199258028669
Itcmdb Generated
ITX-DISEASE-2C0833997494ITX-DISEASE-3C79D89D73AEITX-DISEASE-87CBF2477732ITX-DISEASE-B9B3A2067F4B
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Achondrogenesis Details pageDisease Achondrogenesis, Type Ia Details pageDisease Achondrogenesis, Type Ii Details page
Do Class Name
genetic disease; disease of anatomical entity
Disease Type
disease
Do Disease Class
disease of anatomical entity; genetic disease
Umls Disease Type
Congenital AbnormalityDisease or Syndrome
Basic Information
Disease Name
Achondrogenesis
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Respiratory diseases
Disease Name
Achondrogenesis, Type Ia
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Respiratory diseases
Disease Name
Achondrogenesis, Type Ii
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Respiratory diseases
Disease Definition
Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a shorAchondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesEye 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; Eye Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or Syndrome