DiseaseID 26676
点状掌跖角皮症Ia型
Palmoplantar Keratoderma, Punctate Type Ia
SNOMEDCT_US_2016_09_01:A very rare hereditary skin disease with manifestation of irregularly distributed epidermal hyperkeratosis of the palms and soles. Reported in 35 families worldwide to date. The lesions usually sta
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Disease: 1Symptom: 1Target: 3Links: 4
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26676
- Core Entity Id
- 119244
- Source Entity Count
- 1
- Preferred Name
- Palmoplantar Keratoderma, Punctate Type Ia
- Name Cn
- 点状掌跖角皮症Ia型
- Name Pinyin
- Dian Zhuang Zhang Zhi Jiao Pi Zheng Ia Xing
- Name En
- Palmoplantar Keratoderma, Punctate Type Ia
- 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:A very rare hereditary skin disease with manifestation of irregularly distributed epidermal hyperkeratosis of the palms and soles. Reported in 35 families worldwide to date. The lesions usually start to develop in early adolescence but can also present later in life. Mutations in the AAGAB gene (15q22.33-q23) have recently been identified as one of the causes. Mutations in the COL14A1 gene (8q23) have also been identified as causal in some cases in Asia that seem to have a similar phenotype
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Palmoplantar Keratoderma, Punctate Type Ia
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C1835662
Sym Map
SMDE04598
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Disease Definition
SNOMEDCT_US_2016_09_01:A very rare hereditary skin disease with manifestation of irregularly distributed epidermal hyperkeratosis of the palms and soles. Reported in 35 families worldwide to date. The lesions usually start to develop in early adolescence but can also present later in life. Mutations in the AAGAB gene (15q22.33-q23) have recently been identified as one of the causes. Mutations in the COL14A1 gene (8q23) have also been identified as causal in some cases in Asia that seem to have a similar phenotype