DiseaseID 9873
短躯干症
disease
SNOMEDCT_US_2016_09_01:A relatively severe form of brachyolmia with characteristics of short-trunk short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease in the spine, large joints and interphalangea
Relationship Network
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Disease: 1Formula: 8Herb: 12Symptom: 1Target: 20Links: 45
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 9873
- Core Entity Id
- 67003
- Source Entity Count
- 1
- Preferred Name
- Brachyolmia
- Name Cn
- 短躯干症
- Name Pinyin
- Duan Qu Gan Zheng
- Name En
- Brachyolmia
- 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 DiseasesStomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
- Do Class
- disease of anatomical entitygenetic 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
- Hpo Class Name
- Do Class Name
- disease of anatomical entitygenetic disease
- Disease Definition
- SNOMEDCT_US_2016_09_01:A relatively severe form of brachyolmia with characteristics of short-trunk short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease in the spine, large joints and interphalangeal joints becomes manifest in adulthood. The precise prevalence of this form of brachyolmia is not known. About 30 cases have been reported. Patients with Brachyolmia type 3 generally have a normal birth weight and length. Heterozygous mutations in the TRPV4 gene (12q24.11) are responsible. Autosomal dominant mode of inheritance.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Brachyolmia
Role
preferred
Name
Brachyolmia Type 3
Role
preferred
Name
Congenital Scoliosis Due To Bony Malformation
Role
preferred
Name
Hemivertebra Fusion Or Failure of Segmentation With Scoliosis
Role
preferred
Name
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
Role
preferred
Name
Verloes Bourguignon Syndrome
Role
preferred
Name
Brachyolmia Type 2
Role
alias
Name
Brachyolmia-Amelogenesis Imperfecta Syndrome
Role
alias
Name
Congenital Scoliosis Due To Congenital Bony Malformation
Role
alias
Name
Dental Anomalies And Short Stature
Role
alias
Name
Verloes-Bourguignon Syndrome
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS009407HBDIS009408HBDIS009747HBDIS015094HBDIS020110HBDIS020867
Omim
113500184095601216613678
Umls
C0432227C3159322
Icd10
Q76.3
Sym Map
SMDE00146SMDE03139
Do Class
DOID:630DOID:7
Dis Ge Net
C0432227C0432228C0495617C1832594C2910327C3159322
Orphanet
93304
Umls Sty
T019T046T047
Me Sh Class
C05C07C16
Etcm Disease
BrachyolmiaBrachyolmia Type 3
Tcmbank Disease
1354214020152643032958097973
Itcmdb Generated
ITX-DISEASE-42EBF30FDB2FITX-DISEASE-F6643F7E1176
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Page Title
Disease Brachyolmia Details pageDisease Brachyolmia Type 3 Details page
Do Class Name
disease of anatomical entitygenetic disease
Disease Type
diseasephenotype
Do Disease Class
disease of anatomical entitygenetic disease
Umls Disease Type
Congenital AbnormalityDisease or SyndromePathologic Function
Basic Information
Disease Name
Brachyolmia
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases
Disease Name
Brachyolmia Type 3
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases
Disease Definition
SNOMEDCT_US_2016_09_01:A relatively severe form of brachyolmia with characteristics of short-trunk short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease in the spine, large joints and interphalangeal joints becomes manifest in adulthood. The precise prevalence of this form of brachyolmia is not known. About 30 cases have been reported. Patients with Brachyolmia type 3 generally have a normal birth weight and length. Heterozygous mutations in the TRPV4 gene (12q24.11) are responsible. Autosomal dominant mode of inheritance.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesStomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Dis Ge Net Disease Type
diseasephenotype
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or SyndromePathologic Function