DiseaseID 7217
帕利斯特-霍尔综合征
disease
NCI2016_02D:A very rare autosomal dominant inherited disorder caused by mutations in the GLI3 gene. It is characterized by a spectrum of abnormalities which include polydactyly, cutaneous syndactyly, bifid epiglottis, hy
Relationship Network
Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.
Click a node to open it in a new tab
Disease: 1Symptom: 3Target: 8Links: 11
Arranging relationship network...
Record Fields
Scalar fields from the final disease record.
- Disease Id
- 7217
- Core Entity Id
- 63977
- Source Entity Count
- 1
- Preferred Name
- Pallister-Hall Syndrome
- Name Cn
- 帕利斯特-霍尔综合征
- Name Pinyin
- Pa Li Si Te - Huo Er Zong He Zheng
- Name En
- Pallister-Hall Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
- Do Class
- syndrome; genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- genetic disease; syndrome
- Disease Definition
- NCI2016_02D:A very rare autosomal dominant inherited disorder caused by mutations in the GLI3 gene. It is characterized by a spectrum of abnormalities which include polydactyly, cutaneous syndactyly, bifid epiglottis, hypothalamic hamartoma, and laryngotracheal cleft.|MSH2017_2016_08_12:A pleiotropic disorder of human development that comprises hypothalamic HAMARTOMA; central and postaxial POLYDACTYLY; bifid EPIGLOTTIS; ANAL ATRESIA; and renal and other abnormalities. This disorder is associated with FRAMESHIFT MUTATIONS in the GLI3 gene which encodes the GLI3 protein, a KRUPPEL-LIKE TRANSCRIPTION FACTORS family member.|JABL99:A syndrome of hypothalamic hamartoblastoma, craniofacial abnormalities, polydactyly, and endocrine, cardiac, renal defects, and mild mental retardation in some cases.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Pallister-Hall Syndrome
Role
preferred
Name
HYPOTHALAMIC HAMARTOBLASTOMA, HYPOPITUITARISM, IMPERFORATE ANUS, AND POSTAXIAL POLYDACTYLY
Role
alias
Name
PHS
Role
alias
Name
Syndrome, Pallister-Hall
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS005757
Me Sh
D054975
Omim
146510
Umls
C0265220
Sym Map
SMDE00225
Do Class
DOID:225DOID:630
Dis Ge Net
C0265220
Umls Sty
T047
Me Sh Class
C04C05C10C16
Tcmbank Disease
19143
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Do Class Name
genetic disease; syndrome
Disease Type
disease
Do Disease Class
syndrome; genetic disease
Umls Disease Type
Disease or Syndrome
Disease Definition
NCI2016_02D:A very rare autosomal dominant inherited disorder caused by mutations in the GLI3 gene. It is characterized by a spectrum of abnormalities which include polydactyly, cutaneous syndactyly, bifid epiglottis, hypothalamic hamartoma, and laryngotracheal cleft.|MSH2017_2016_08_12:A pleiotropic disorder of human development that comprises hypothalamic HAMARTOMA; central and postaxial POLYDACTYLY; bifid EPIGLOTTIS; ANAL ATRESIA; and renal and other abnormalities. This disorder is associated with FRAMESHIFT MUTATIONS in the GLI3 gene which encodes the GLI3 protein, a KRUPPEL-LIKE TRANSCRIPTION FACTORS family member.|JABL99:A syndrome of hypothalamic hamartoblastoma, craniofacial abnormalities, polydactyly, and endocrine, cardiac, renal defects, and mild mental retardation in some cases.
Me Sh Disease Class
Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome