DiseaseID 11218
牙-甲-皮肤发育不良
disease
JABL99:A form of ectodermal dysplasia with hyperhidrosis, hyperkeratosis palmaris et plantaris, nail dystrophy, dry and sparse hair, facial erythema, peg-shaped incisors. and malformation of other teeth. Mild mental defi
Relationship Network
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Disease: 1Symptom: 7Target: 3Links: 10
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 11218
- Core Entity Id
- 68581
- Source Entity Count
- 1
- Preferred Name
- Odontoonychodermal Dysplasia
- Name Cn
- 牙-甲-皮肤发育不良
- Name Pinyin
- Ya - Jia - Pi Fu Fa Yu Bu Liang
- Name En
- Odontoonychodermal Dysplasia
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Stomatognathic Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Do Class
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Stomatognathic Diseases
- Hpo Class Name
- Do Class Name
- Disease Definition
- JABL99:A form of ectodermal dysplasia with hyperhidrosis, hyperkeratosis palmaris et plantaris, nail dystrophy, dry and sparse hair, facial erythema, peg-shaped incisors. and malformation of other teeth. Mild mental deficiency was reported in some cases. This condition is considered by some a specific form of a broad category of disorders involving dysplasia of skin appendages and teeth.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Odontoonychodermal Dysplasia
Role
preferred
Name
Odonto-Onycho-Dermal Dysplasia
Role
preferred
Name
OODD
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS011691HBDIS013086
Omim
257980
Umls
C0796093C1275074
Sym Map
SMDE03871SMDE11586
Dis Ge Net
C0796093C1275074
Umls Sty
T019T047
Me Sh Class
C07C16C17
Tcmbank Disease
1503731043
Itcmdb Generated
ITX-DISEASE-E2950108C73C
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2v2
Suppress
0
Disease Type
disease
Umls Disease Type
Congenital AbnormalityDisease or Syndrome
Disease Definition
JABL99:A form of ectodermal dysplasia with hyperhidrosis, hyperkeratosis palmaris et plantaris, nail dystrophy, dry and sparse hair, facial erythema, peg-shaped incisors. and malformation of other teeth. Mild mental deficiency was reported in some cases. This condition is considered by some a specific form of a broad category of disorders involving dysplasia of skin appendages and teeth.
Me Sh Disease Class
Stomatognathic Diseases; Skin and Connective Tissue 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; Skin and Connective Tissue Diseases; Stomatognathic Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or Syndrome