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orofaciodigital syndrome I
Summary
- Synonym
-
- Papillon-Leage-Psaume syndrome
- orofaciodigital syndrome 1
- orofaciodigital syndrome type I
- Definition
- An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease.
- Super Class
- X-linked dominant disease orofaciodigital syndrome
External Links
- Disease Ontology
- DOID:0060316
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- MGI genotype (from TogoID)
