DiseaseID 26468
常染色体显性遗传近视-面中部后缩-感音神经性耳聋-肢根发育不良综合征
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Relationship Network
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Disease: 1Symptom: 1Target: 16Links: 25
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26468
- Core Entity Id
- 119036
- Source Entity Count
- 1
- Preferred Name
- Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
- Name Cn
- 常染色体显性遗传近视-面中部后缩-感音神经性耳聋-肢根发育不良综合征
- Name Pinyin
- Chang Ran Se Ti Xian Xing Yi Chuan Jin Shi - Mian Zhong Bu Hou Suo - Gan Yin Shen Jing Xing Er Long - Zhi Gen Fa Yu Bu Liang Zong He Zheng
- Name En
- Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Sym Map
SMDE03625
Orphanet
440354
Etcm Disease
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Itcmdb Generated
ITX-DISEASE-32EFCC621261ITX-DISEASE-D81E93ACC5FC
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Page Title
Disease Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome Details page
Basic Information
Disease Name
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Global Category
Fetal diseases;Rare diseases
Anatomical Category
Bone diseases;Ear diseases