DiseaseID 3774

牙釉质发育不全

disease

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

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Disease: 1Symptom: 3Target: 12Links: 15
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Record Fields

Scalar fields from the final disease record.

Disease Id
3774
Core Entity Id
60020
Source Entity Count
1
Preferred Name
Dental Enamel Hypoplasia
Name Cn
牙釉质发育不全
Name Pinyin
Ya You Zhi Fa Yu Bu Quan
Name En
Dental Enamel Hypoplasia
Name Latin
Bilingual Status
complete
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disgenet Type
disease
Mesh Class
Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Do Class
disease of anatomical entity
Hpo Class
Abnormality of head or neck; Abnormality of connective tissue; Abnormality of the skeletal system
Mesh Class Name
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
Hpo Class Name
Abnormality of head or neck; Abnormality of the skeletal system; Abnormality of connective tissue
Do Class Name
disease of anatomical entity
Disease Definition
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]
Version
v2
Suppressed
No

Names

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

Name
Dental Enamel Hypoplasia
Role
preferred
Name
Molar Incisor Hypomineralization
Role
preferred
Name
Enamel Dysplasia
Role
alias
Name
Enamel Hypoplasia
Role
alias
Name
Hypoplasia of Dental Enamel
Role
alias
Name
Hypoplasia of Tooth Enamel
Role
alias
Name
Underdeveloped Teeth Enamel
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Hpo
HP:0006297
Herb
HBDIS000740HBDIS019109
Me Sh
D003744
Umls
C0011351
Sym Map
SMDE07790
Do Class
DOID:7
Dis Ge Net
C0011351C2350038
Umls Sty
T047
Hpo Class
HP:0000152HP:0000924HP:0003549
Me Sh Class
C07C16
Tcmbank Disease
1088525367
Itcmdb Generated
ITX-DISEASE-4E14BFC99D35

Attributes

Merged source attributes and domain-specific metadata.

Version
v2
Suppress
0
Do Class Name
disease of anatomical entity
Disease Type
disease
Hpo Class Name
Abnormality of head or neck; Abnormality of the skeletal system; Abnormality of connective tissue
Do Disease Class
disease of anatomical entity
Hpo Disease Class
Abnormality of head or neck; Abnormality of connective tissue; Abnormality of the skeletal system
Umls Disease Type
Disease or Syndrome
Disease Definition
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]
Me Sh Disease Class
Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
Umls Semantic Type Name
Disease or Syndrome