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Orofaciodigital Syndromes MeSH Descriptor Data 2025


MeSH Heading
Orofaciodigital Syndromes
Tree Number(s)
C05.116.099.370.652
C05.660.207.700
C16.131.077.676
C16.131.260.830.670
C16.131.621.207.700
C16.320.180.830.670
C16.320.714
Unique ID
D009958
RDF Unique Identifier
https://id.nlm.nih.gov/mesh/D009958
Annotation
do not use /‌congen & do not coord with INFANT, NEWBORN, DISEASES
Scope Note
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.
Entry Term(s)
Dysplasia Linguofacialis
Gorlin-Psaume Syndrome
Mohr Syndrome
Oral-Facial-Digital Syndrome
Oral-Facial-Digital Syndrome, Type I
Oral-Facial-Digital Syndrome, Type II
Oro-Facio-Digital Syndrome
Orodigitofacial Dysostosis
Orodigitofacial Syndrome
Orofaciodigital Syndrome
Orofaciodigital Syndrome I
Orofaciodigital Syndrome II
Papillon-Leage and Psaume Syndrome
Public MeSH Note
79; was OROFACIODIGITAL SYNDROME see under ABNORMALITIES, MULTIPLE 1975-78
Online Note
use OROFACIODIGITAL SYNDROMES to search OROFACIODIGITAL SYNDROME 1966-78(as Prov 1966-74)
History Note
79; was OROFACIODIGITAL SYNDROME see under ABNORMALITIES, MULTIPLE 1975-78; was OROFACIODIGITAL SYNDROME 1964-74 (Prov)
Date Established
1991/01/01
Date of Entry
1999/01/01
Revision Date
2016/06/30
Orofaciodigital Syndromes Preferred
Mohr Syndrome Narrower
Papillon-Leage and Psaume Syndrome Narrower
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