DiseaseID 26417
酪氨酸血症II型
Tyrosinemia, Type Ii
JABL99:An inborn error of amino acid metabolism characterized by keratosis palmaris et plantaris, persistent dendritic lesions of the cornea with unaffected corneal sensitivity, photophobia, and persistent tearing in ass
Relationship Network
Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.
Click a node to open it in a new tab
Disease: 1Symptom: 3Target: 2Links: 5
Arranging relationship network...
Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26417
- Core Entity Id
- 118985
- Source Entity Count
- 1
- Preferred Name
- Tyrosinemia, Type Ii
- Name Cn
- 酪氨酸血症II型
- Name Pinyin
- Lao An Suan Xue Zheng Ii Xing
- Name En
- Tyrosinemia, 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
- JABL99:An inborn error of amino acid metabolism characterized by keratosis palmaris et plantaris, persistent dendritic lesions of the cornea with unaffected corneal sensitivity, photophobia, and persistent tearing in association with tyrosine aminotransaminase deficiency and elevated blood tyrosine level. Severe mental and somatic retardation occur in most cases. Visual complications may include blindness.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Tyrosinemia, Type Ii
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C0268487
Sym Map
SMDE03373
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Disease Definition
JABL99:An inborn error of amino acid metabolism characterized by keratosis palmaris et plantaris, persistent dendritic lesions of the cornea with unaffected corneal sensitivity, photophobia, and persistent tearing in association with tyrosine aminotransaminase deficiency and elevated blood tyrosine level. Severe mental and somatic retardation occur in most cases. Visual complications may include blindness.