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Diseases

Craniofacial Dysostosis

craniofacial dysostosis

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.