Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait. [ MESH:D009958 ]
Synonyms: orofaciodigital syndrome oral-facial-digital syndrome OFD
Term information
- SCTID:52868006 (MONDO:equivalentTo)
- DOID:4501 (MONDO:equivalentTo)
- MESH:D009958 (MONDO:equivalentTo)
- NORD:1529 (MONDO:NORD)
- ICD9:759.89 (MONDO:relatedTo)
- GARD:10692 (Orphanet:140997)
- OMIMPS:311200 (MONDO:equivalentTo)
- Orphanet:140997 (MONDO:equivalentTo)
gard_rare, disease_grouping, rare, nord_rare, orphanet_rare, ordo_group_of_disorders
http://www.orpha.net/ORDO/Orphanet_140997
https://omim.org/phenotypicSeries/PS311200
http://purl.obolibrary.org/obo/DOID_4501
http://identifiers.org/snomedct/52868006
http://identifiers.org/mesh/D009958
orofaciodigital syndromes
oral-facial-digital syndromes
oral facial digital syndromes