DiseaseID 14278
多发性骨骺发育不良1型
disease
JABL99:A severe bone dysplasia in which osteopathia striata is associated with cranial sclerosis, dysmorphic facies, cleft palate, deafness, heart defects, and vertebral anomalies with variability of expression. Neurolog
Relationship Network
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Disease: 1Formula: 7Herb: 12Symptom: 1Target: 18Links: 44
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 14278
- Core Entity Id
- 72041
- Source Entity Count
- 1
- Preferred Name
- Epiphyseal Dysplasia, Multiple, 1
- Name Cn
- 多发性骨骺发育不良1型
- Name Pinyin
- Duo Fa Xing Gu Hou Fa Yu Bu Liang 1 Xing
- Name En
- Epiphyseal Dysplasia, Multiple, 1
- 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 Diseases
- Do Class
- disease of anatomical entity; genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
- Hpo Class Name
- Do Class Name
- genetic disease; disease of anatomical entity
- Disease Definition
- JABL99:A severe bone dysplasia in which osteopathia striata is associated with cranial sclerosis, dysmorphic facies, cleft palate, deafness, heart defects, and vertebral anomalies with variability of expression. Neurological findings range from normal development to psychomotor retardation and hydrocephalus.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Epiphyseal Dysplasia, Multiple, 1
Role
preferred
Name
Multiple Epiphyseal Dysplasia 1
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS015666
Omim
132400
Umls
C1838280C1851537C1851538
Sym Map
SMDE02060
Do Class
DOID:630DOID:7
Dis Ge Net
C1838280
Umls Sty
T047
Me Sh Class
C05C16
Etcm Disease
Epiphyseal Dysplasia, Multiple, 1
Tcmbank Disease
28815
Itcmdb Generated
ITX-DISEASE-8623D02D02C4
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Page Title
Disease Epiphyseal Dysplasia, Multiple, 1 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
Disease or Syndrome
Basic Information
Disease Name
Epiphyseal Dysplasia, Multiple, 1
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Ear diseases
Disease Definition
JABL99:A severe bone dysplasia in which osteopathia striata is associated with cranial sclerosis, dysmorphic facies, cleft palate, deafness, heart defects, and vertebral anomalies with variability of expression. Neurological findings range from normal development to psychomotor retardation and hydrocephalus.
Me Sh Disease Class
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 Diseases
Umls Semantic Type Name
Disease or Syndrome