DiseaseID 26038
高脯氨酸血症II型
Hyperprolinemia, Type Ii
SNOMEDCT_US_2016_09_01:An autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual defici
Relationship Network
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Disease: 1Formula: 5Symptom: 4Target: 16Links: 33
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26038
- Core Entity Id
- 118606
- Source Entity Count
- 1
- Preferred Name
- Hyperprolinemia, Type Ii
- Name Cn
- 高脯氨酸血症II型
- Name Pinyin
- Gao Pu An Suan Xue Zheng Ii Xing
- Name En
- Hyperprolinemia, Type Ii
- 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
- SNOMEDCT_US_2016_09_01:An autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Hyperprolinemia, Type Ii
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C2931835
Sym Map
SMDE01669
Etcm Disease
Hyperprolinemia, Type Ii
Itcmdb Generated
ITX-DISEASE-D04CDD66A31C
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Hyperprolinemia, Type Ii Details page
Basic Information
Disease Name
Hyperprolinemia, Type Ii
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Mental diseases;Nephrological diseases;Neuronal diseases
Disease Definition
SNOMEDCT_US_2016_09_01:An autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay.