DiseaseID 3212
软骨发育不全
disease
Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.
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Disease: 1Herb: 12Symptom: 12Target: 32Links: 58
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 3212
- Core Entity Id
- 59388
- Source Entity Count
- 1
- Preferred Name
- Achondroplasia
- Name Cn
- 软骨发育不全
- Name Pinyin
- Ruan Gu Fa Yu Bu Quan
- Name En
- Achondroplasia
- 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 DiseasesEndocrine System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
- Do Class
- disease 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; Endocrine System Diseases
- Hpo Class Name
- Do Class Name
- genetic diseasegenetic disease; disease of anatomical entity
- Disease Definition
- Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Achondroplasia
Role
preferred
Name
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Role
preferred
Name
Hypochondroplasia
Role
preferred
Name
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Role
preferred
Name
Hypochondroplasia (Disorder)
Role
preferred
Name
ACH
Role
alias
Name
HCH
Role
alias
Name
SADDAN
Role
alias
Name
SADDAN DYSPLASIA
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS000024HBDIS009059HBDIS019306
Me Sh
D000130
Omim
100800146000616482
Umls
C0001080C0410529C2674173
Icd10
Q77.4
Med Dra
1000045210020967
Sym Map
SMDE00539SMDE01126SMDE01870SMDE04414
Do Class
DOID:630DOID:7
Dis Ge Net
C0001080C0410529C2674173
Orphanet
1542985165
Umls Sty
T019
Me Sh Class
C05C16C19
Etcm Disease
AchondroplasiaAchondroplasia, Severe, with Developmental Delay and Acanthosis NigricansHypochondroplasia
Tcmbank Disease
1023261088044
Itcmdb Generated
ITX-DISEASE-11C3563BFB29ITX-DISEASE-2853D9BE35D2ITX-DISEASE-59043886359A
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
01
Page Title
Disease Achondroplasia Details pageDisease Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans Details pageDisease Hypochondroplasia Details page
Do Class Name
genetic diseasegenetic disease; disease of anatomical entity
Disease Type
disease
Link Disease Id
1126.0
Do Disease Class
disease of anatomical entity; genetic diseasegenetic disease
Umls Disease Type
Congenital Abnormality
Basic Information
Disease Name
Achondroplasia
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases
Disease Name
Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Skin diseases
Disease Name
Hypochondroplasia
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases
Disease Definition
Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been desc
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesEndocrine System 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; Endocrine System Diseases
Umls Semantic Type Name
Congenital Abnormality