01
EIF2AK3
No data
Diseases
Diabetes Mellitus, Permanent Neonatal
diabetes mellitus, permanent neonatal
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Diabetes Mellitus, Permanent Neonatal
- Standard Disease Name
- diabetes mellitus, permanent neonatal
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- D003744
- OMIM ID
- MTHU012243|MTHU048365|MTHU002993|MTHU010040
- UMLS ID
- C0011351
- HPO ID
- No data
Description and Extensions
- Description
- SNOMEDCT_US_2016_09_01:A form of amelogenesis imperfecta characterized by incomplete formation of the dental enamel and transmitted as an X-linked or autosomal dominant trait.|NCI2016_02D:Deficiency in the enamel tissue that results in the formation of grooves, pits, or dents on the surface of the affected teeth.|MSH2017_2016_08_12:An acquired or hereditary condition due to deficiency in the formation of tooth enamel (AMELOGENESIS). It is usually characterized by defective, thin, or malformed DENTAL ENAMEL. Risk factors for enamel hypoplasia include gene mutations, nutritional deficiencies, diseases, and environmental factors.|HPO2016_07_04:Developmental hypoplasia of the dental enamel. [HPO:ibailleulforestier, pmid:18499550]