Terminology Service for NFDI4Health
orofaciodigital syndrome
Go to external page
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. [ http://id.nlm.nih.gov/mesh/D009958 ]
Term info
Label
orofaciodigital syndrome
Synonyms
- OFD
- oral-facial-digital syndrome
- orofaciodigital syndrome
Subsets
disease_grouping, ordo_group_of_disorders
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 related synonym
orofaciodigital syndromes, oral-facial-digital syndromes, oral facial digital syndromes
id
MONDO:0015375
narrowMatch
https://icd.codes/icd10cm/Q87.0