DiseaseID 25906
唇腭裂-外胚层发育不良综合征
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
SNOMEDCT_US_2016_09_01:Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome with characteristics of hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some c
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Disease: 1Target: 17Links: 24
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 25906
- Core Entity Id
- 118474
- Source Entity Count
- 1
- Preferred Name
- Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
- Name Cn
- 唇腭裂-外胚层发育不良综合征
- Name Pinyin
- Chun E Lie - Wai Pei Ceng Fa Yu Bu Liang Zong He Zheng
- Name En
- Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
- 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:Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome with characteristics of hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.The prevalence is unknown but to date, less than 50 cases have been described in the literature. Caused by mutations in the gene PVRL1 (11q23-q24) which encodes nectin-1, the principal receptor used by alpha-herpesviruses to mediate entry into human cells. Transmission is autosomal recessive.|NCI2016_02D:A very rare genetic disorder characterized by cleft lip and palate, sparse scalp hair, and partial syndactyly of the fingers and toes.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C1833538C1857043C2931488
Sym Map
SMDE00918
Etcm Disease
Cleft Lip/palate-Ectodermal Dysplasia Syndrome
Itcmdb Generated
ITX-DISEASE-53D072E50E07
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Page Title
Disease Cleft Lip/palate-Ectodermal Dysplasia Syndrome Details page
Basic Information
Disease Name
Cleft Lip/palate-Ectodermal Dysplasia Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Skin diseases
Disease Definition
SNOMEDCT_US_2016_09_01:Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome with characteristics of hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.The prevalence is unknown but to date, less than 50 cases have been described in the literature. Caused by mutations in the gene PVRL1 (11q23-q24) which encodes nectin-1, the principal receptor used by alpha-herpesviruses to mediate entry into human cells. Transmission is autosomal recessive.|NCI2016_02D:A very rare genetic disorder characterized by cleft lip and palate, sparse scalp hair, and partial syndactyly of the fingers and toes.