DiseaseID 13953
Van Der Woude综合征
disease
NCI2016_02D:A rare autosomal dominant syndrome caused by mutations in the IRF6 gene. It is characterized by a cleft palate and/or pits on the lower lip. Other signs and symptoms include absent teeth, palate and tongue de
Relationship Network
Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.
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Disease: 1Symptom: 2Target: 12Links: 14
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 13953
- Core Entity Id
- 71669
- Source Entity Count
- 1
- Preferred Name
- Van Der Woude Syndrome
- Name Cn
- Van Der Woude综合征
- Name Pinyin
- Van der woude Zong He Zheng
- Name En
- Van Der Woude Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Neoplasms; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesNervous System Diseases; Musculoskeletal DiseasesStomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
- Do Class
- disease of anatomical entity; genetic diseasedisease of anatomical entity; genetic disease; syndromesyndrome
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic DiseasesMusculoskeletal Diseases; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
- Hpo Class Name
- Do Class Name
- genetic disease; disease of anatomical entitygenetic disease; disease of anatomical entity; syndromesyndrome
- Disease Definition
- NCI2016_02D:A rare autosomal dominant syndrome caused by mutations in the IRF6 gene. It is characterized by a cleft palate and/or pits on the lower lip. Other signs and symptoms include absent teeth, palate and tongue deformities.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Van Der Woude Syndrome
Role
preferred
Name
Myopathy, Actin, Congenital, With Cores
Role
preferred
Name
Myopathy, Actin, Congenital, With Excess Of Thin Myofilaments
Role
preferred
Name
Nemaline Myopathy 3
Role
preferred
Name
Nemaline Myopathy 3, With Intranuclear Rods
Role
preferred
Name
Van Der Woude Syndrome 1
Role
preferred
Name
Van Der Woude Syndrome 2
Role
preferred
Name
Actin-Accumulation Myopathy
Role
preferred
Name
CLEFT LIP AND/OR PALATE WITH MUCOUS CYSTS OF LOWER LIP
Role
alias
Name
Cleft Lip/palate With Mucous Cysts Of Lower Lip
Role
alias
Name
LPS
Role
alias
Name
Lip-pit Syndrome
Role
alias
Name
NEM3
Role
alias
Name
PIT
Role
alias
Name
VDWS
Role
alias
Name
VWS
Role
alias
Name
VWS1
Role
alias
Name
VWS2
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS004180HBDIS015233HBDIS016399HBDIS019875HBDIS019876HBDIS022071HBDIS027330
Omim
119300161800604547606713
Umls
C0175697C1834336C1834339C1847604C2750536C2750537
Icd10
Q38.0
Sym Map
SMDE00610SMDE01642SMDE02594SMDE04768SMDE11250SMDE11251SMDE11339
Do Class
DOID:225DOID:630DOID:7
Dis Ge Net
C0175697C1834339C1847604C2750536C2750537C3711389C4551864
Orphanet
888
Umls Sty
T047
Me Sh Class
C04C05C07C10C16C23
Tcmbank Disease
1006910534109591414424952303128729
Itcmdb Generated
ITX-DISEASE-8F04A903F2F8
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
01
Do Class Name
genetic disease; disease of anatomical entitygenetic disease; disease of anatomical entity; syndromesyndrome
Disease Type
disease
Link Disease Id
610.0
Do Disease Class
disease of anatomical entity; genetic diseasedisease of anatomical entity; genetic disease; syndromesyndrome
Umls Disease Type
Disease or Syndrome
Disease Definition
NCI2016_02D:A rare autosomal dominant syndrome caused by mutations in the IRF6 gene. It is characterized by a cleft palate and/or pits on the lower lip. Other signs and symptoms include absent teeth, palate and tongue deformities.Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate.
Me Sh Disease Class
Neoplasms; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesNervous System Diseases; Musculoskeletal DiseasesStomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic DiseasesMusculoskeletal Diseases; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
Umls Semantic Type Name
Disease or Syndrome