01
- Entity Type
- Diseases
- Relation Groups
- 3
- Relation Preview
- 24
Basic Information
Grouped by core information, identifiers, and descriptions.
Current candidates are inferred from disease-target-ingredient-herb paths and do not represent a formal recommendation ranking.
Core Information
- Disease Name
- Craniofacial Dysostosis
- Standard Disease Name
- craniofacial dysostosis
- MeSH Tree
- No data
- ICD-10
- Q75.1
Identifiers
- DO ID
- No data
- MeSH ID
- D003394
- OMIM ID
- No data
- UMLS ID
- C0010273
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_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.