DiseaseID 9884
伦茨-马耶夫斯基骨肥厚性侏儒症
disease
JABL99:Progressive hyperostosis, characteristic facies, short trunk and limbs, disproportionately large head, sclerosis of the skull bones and vertebrae, interdigital webbing, hypoplastic or aplastic middle phalanges, me
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Disease: 1Symptom: 3Target: 18Links: 27
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 9884
- Core Entity Id
- 67017
- Source Entity Count
- 1
- Preferred Name
- Lenz Majewski Hyperostotic Dwarfism
- Name Cn
- 伦茨-马耶夫斯基骨肥厚性侏儒症
- Name Pinyin
- Lun Ci - Ma Ye Fu Si Ji Gu Fei Hou Xing Zhu Ru Zheng
- Name En
- Lenz Majewski Hyperostotic Dwarfism
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Mental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
- Do Class
- genetic disease
- Hpo Class
- Mesh Class Name
- Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
- Hpo Class Name
- Do Class Name
- genetic disease
- Disease Definition
- JABL99:Progressive hyperostosis, characteristic facies, short trunk and limbs, disproportionately large head, sclerosis of the skull bones and vertebrae, interdigital webbing, hypoplastic or aplastic middle phalanges, mental retardation, and other defects.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Lenz Majewski Hyperostotic Dwarfism
Role
preferred
Name
Lenz-Majewski Hyperostotic Dwarfism
Role
preferred
Name
LENZ-MAJEWSKI SYNDROME
Role
alias
Name
LMHD
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS009425
Omim
151050
Umls
C0432269
Sym Map
SMDE02954
Do Class
DOID:630
Dis Ge Net
C0432269
Umls Sty
T019
Me Sh Class
C05C10C16C23F01F03
Etcm Disease
Lenz-Majewski Hyperostotic Dwarfism
Tcmbank Disease
32286
Itcmdb Generated
ITX-DISEASE-5A4908B0995D
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Lenz-Majewski Hyperostotic Dwarfism Details page
Do Class Name
genetic disease
Disease Type
disease
Do Disease Class
genetic disease
Umls Disease Type
Congenital Abnormality
Basic Information
Disease Name
Lenz-Majewski Hyperostotic Dwarfism
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Neuronal diseases
Disease Definition
JABL99:Progressive hyperostosis, characteristic facies, short trunk and limbs, disproportionately large head, sclerosis of the skull bones and vertebrae, interdigital webbing, hypoplastic or aplastic middle phalanges, mental retardation, and other defects.
Me Sh Disease Class
Mental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Umls Semantic Type Name
Congenital Abnormality