DiseaseID 3725
颅面骨发育不全
disease
Crouzon disease is characterized by craniosynostosis and facial hypoplasia.
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Disease: 1Symptom: 7Target: 12Links: 19
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 3725
- Core Entity Id
- 59964
- Source Entity Count
- 1
- Preferred Name
- Craniofacial Dysostosis
- Name Cn
- 颅面骨发育不全
- Name Pinyin
- Lu Mian Gu Fa Yu Bu Quan
- Name En
- Craniofacial Dysostosis
- 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
- Hpo Class
- Abnormality of head or neck; Abnormality of the skeletal system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
- Hpo Class Name
- Abnormality of head or neck; Abnormality of the skeletal system
- Do Class Name
- disease of anatomical entity
- Disease Definition
- Crouzon disease is characterized by craniosynostosis and facial hypoplasia.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Craniofacial Dysostosis
Role
preferred
Name
Craniofacial Dysostosis Type 1
Role
preferred
Name
Crouzon Disease
Role
preferred
Name
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Role
preferred
Name
Crouzon Syndrome
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0004439
Herb
HBDIS000679HBDIS020244
Me Sh
D003394
Omim
123500
Umls
C0010273C2677099
Icd10
Q75.1
Sym Map
SMDE00622SMDE01923SMDE07619
Do Class
DOID:7
Dis Ge Net
C0010273C2931196
Orphanet
20793262
Umls Sty
T047
Hpo Class
HP:0000152HP:0000924
Me Sh Class
C05C16
Tcmbank Disease
2664327
Itcmdb Generated
ITX-DISEASE-6172CE3C0B86
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Do Class Name
disease of anatomical entity
Disease Type
disease
Hpo Class Name
Abnormality of head or neck; Abnormality of the skeletal system
Do Disease Class
disease of anatomical entity
Hpo Disease Class
Abnormality of head or neck; Abnormality of the skeletal system
Umls Disease Type
Disease or Syndrome
Disease Definition
Crouzon disease is characterized by craniosynostosis and facial hypoplasia.Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon diNCI2016_02D:A syndrome inherited in an autosomal dominant pattern. It is characterized by early fusion of the bones of the skull and face. Patients have a distinctive facial appearance which includes low-set ears, brachycephaly, hypertelorism, exophthalmos, and mandibular prognathism.|MSH2017_2016_08_12:Autosomal dominant CRANIOSYNOSTOSIS with shallow ORBITS; EXOPHTHALMOS; and maxillary hypoplasia.|HPO2016_07_04:A characteristic appearance resulting from defective ossification of craniofacial bones. [HPO:probinson]|CSP2006:autosomal dominant disorder characterized by acrocephaly, exophthalmos, hypertelorism, strabismus, parrot-beaked nose, and hypoplastic maxilla with relative mandibular prognathism.
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