DiseaseID 17158
口面指综合征VI型
disease
NCI2016_02D:A rare, autosomal recessive syndrome characterized by orofacial anomalies, metacarpal abnormalities with central polydactyly, and cerebellar dysgenesis.|JABL99:A syndrome of polydactyly of the fingers and toe
Relationship Network
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Disease: 1Symptom: 3Target: 12Links: 15
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 17158
- Core Entity Id
- 75340
- Source Entity Count
- 1
- Preferred Name
- Orofaciodigital Syndrome Vi
- Name Cn
- 口面指综合征VI型
- Name Pinyin
- Kou Mian Zhi Zong He Zheng Vi Xing
- Name En
- Orofaciodigital Syndrome Vi
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
- Do Class
- disease of anatomical entity; genetic disease; syndrome
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
- Hpo Class Name
- Do Class Name
- genetic disease; disease of anatomical entity; syndrome
- Disease Definition
- NCI2016_02D:A rare, autosomal recessive syndrome characterized by orofacial anomalies, metacarpal abnormalities with central polydactyly, and cerebellar dysgenesis.|JABL99:A syndrome of polydactyly of the fingers and toes, cleft lip/palate or lingual nodule, somatic and psychomotor retardation, and occasional internal abnormalities. Varadi-Papp and Opitz trigonocephaly syndromes share common characteristics.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Orofaciodigital Syndrome Vi
Role
preferred
Name
Joubert Syndrome With Orofaciodigital Defect
Role
alias
Name
OFD6
Role
alias
Name
OFDS VI
Role
alias
Name
ORAL-FACIAL-DIGITAL SYNDROME, TYPE VI
Role
alias
Name
Orofaciodigital Syndrome 6
Role
alias
Name
POLYDACTYLY, CLEFT LIP/PALATE OR LINGUAL LUMP, AND PSYCHOMOTOR RETARDATION
Role
alias
Name
VARADI SYNDROME
Role
alias
Name
VARADI-PAPP SYNDROME
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS019738
Omim
277170
Umls
C2745997
Sym Map
SMDE00513
Do Class
DOID:225DOID:630DOID:7
Dis Ge Net
C2745997
Umls Sty
T047
Me Sh Class
C05C16
Tcmbank Disease
3105
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Do Class Name
genetic disease; disease of anatomical entity; syndrome
Disease Type
disease
Do Disease Class
disease of anatomical entity; genetic disease; syndrome
Umls Disease Type
Disease or Syndrome
Disease Definition
NCI2016_02D:A rare, autosomal recessive syndrome characterized by orofacial anomalies, metacarpal abnormalities with central polydactyly, and cerebellar dysgenesis.|JABL99:A syndrome of polydactyly of the fingers and toes, cleft lip/palate or lingual nodule, somatic and psychomotor retardation, and occasional internal abnormalities. Varadi-Papp and Opitz trigonocephaly syndromes share common characteristics.
Me Sh Disease Class
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
Umls Semantic Type Name
Disease or Syndrome