DiseaseID 25895

孤立性无脑畸形/露脑畸形

Isolated Anencephaly/Exencephaly

Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass.

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Disease: 1Target: 2Links: 2
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Record Fields

Scalar fields from the final disease record.

Disease Id
25895
Core Entity Id
118463
Source Entity Count
1
Preferred Name
Isolated Anencephaly/Exencephaly
Name Cn
孤立性无脑畸形/露脑畸形
Name Pinyin
Gu Li Xing Wu Nao Ji Xing / Lu Nao Ji Xing
Name En
Isolated Anencephaly/Exencephaly
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
Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass.
Version
v1
Suppressed
No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name
Isolated Anencephaly/Exencephaly
Role
preferred
Source
SymMap_v2
Preferred
Yes

Cross References

Trusted external identifiers retained for this final record.

Sym Map
SMDE00851
Orphanet
1048

Attributes

Merged source attributes and domain-specific metadata.

Version
v1
Suppress
0
Disease Definition
Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass.