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orofaciodigital syndrome

^ http://purl.obolibrary.org/obo/MONDO_0015375

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 ]

Term info

database cross reference
  • ICD9:759.89 (MONDO:relatedTo)
  • OMIMPS:311200 (MONDO:equivalentTo)
  • Orphanet:140997 (MONDO:equivalentTo)
  • SCTID:52868006 (MONDO:equivalentTo)
  • GARD:0010692 (MONDO:equivalentTo)
  • DOID:4501 (MONDO:equivalentTo)
  • MESH:D009958 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

abbreviation
OFD [ Orphanet:140997 ]

definition

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.

exactMatch

http://purl.obolibrary.org/obo/DOID_4501, https://omim.org/phenotypicSeries/PS311200, http://purl.obolibrary.org/obo/Orphanet_140997, http://identifiers.org/snomedct/52868006, http://identifiers.org/mesh/D009958

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015501

has exact synonym

orofaciodigital syndrome, oral-facial-digital syndrome, OFD

has related synonym

orofaciodigital syndromes, oral-facial-digital syndromes, oral facial digital syndromes

id

MONDO:0015375