DiseaseID 7225
腘翼状胬肉综合征
disease
SNOMEDCT_US_2016_09_01:A rare genetic malformation disorder with characteristics of cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/o
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Disease: 1Target: 2Links: 2
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 7225
- Core Entity Id
- 63987
- Source Entity Count
- 1
- Preferred Name
- Popliteal Pterygium Syndrome
- Name Cn
- 腘翼状胬肉综合征
- Name Pinyin
- Guo Yi Zhuang Nu Rou Zong He Zheng
- Name En
- Popliteal Pterygium Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases; Musculoskeletal DiseasesFemale Urogenital Diseases and Pregnancy Complications; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Male Urogenital Diseases; Musculoskeletal Diseases
- Do Class
- genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases
- Hpo Class Name
- Do Class Name
- genetic disease
- Disease Definition
- SNOMEDCT_US_2016_09_01:A rare genetic malformation disorder with characteristics of cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. Associated with mutations in the IRF6 gene (1q32.2-q32.3) which is involved in the formation of connective and epithelial tissues. Follows an autosomal dominant pattern of inheritance.|NCI2016_02D:A rare, autosomal dominant inherited syndrome caused by mutations in the IRF6 gene. It is characterized by the presence of cleft palate, cleft lip, pits in the lower lip, web behind the knee (popliteal pterygium), syndactyly, cryptorchidism, scrotal malformation, and hypoplasia of the labia majora.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Popliteal Pterygium Syndrome
Role
preferred
Name
POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE
Role
preferred
Name
Bartsocas-Papas Syndrome
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS005779HBDIS016643
Omim
119500263650
Umls
C0265259
Sym Map
SMDE02436SMDE05044
Do Class
DOID:630
Dis Ge Net
C0265259C1849718
Umls Sty
T047
Me Sh Class
C05C07C11C12C13C16
Tcmbank Disease
1635018757
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2
Suppress
01
Do Class Name
genetic disease
Disease Type
disease
Link Disease Id
1119.0
Do Disease Class
genetic disease
Umls Disease Type
Disease or Syndrome
Disease Definition
SNOMEDCT_US_2016_09_01:A rare genetic malformation disorder with characteristics of cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. Associated with mutations in the IRF6 gene (1q32.2-q32.3) which is involved in the formation of connective and epithelial tissues. Follows an autosomal dominant pattern of inheritance.|NCI2016_02D:A rare, autosomal dominant inherited syndrome caused by mutations in the IRF6 gene. It is characterized by the presence of cleft palate, cleft lip, pits in the lower lip, web behind the knee (popliteal pterygium), syndactyly, cryptorchidism, scrotal malformation, and hypoplasia of the labia majora.
Me Sh Disease Class
Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases; Musculoskeletal DiseasesFemale Urogenital Diseases and Pregnancy Complications; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Male Urogenital Diseases; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases
Umls Semantic Type Name
Disease or Syndrome