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