orofaciodigital syndrome I
A rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.
MONDO:0015375
orofaciodigital syndrome
excluded_subClassOf
MONDO:0019287
ectodermal dysplasia syndrome
excluded_subClassOf
MONDO:0020119
X-linked syndromic intellectual disability
excluded_subClassOf
MONDO:0021029
hereditary sebaceous gland anomaly
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0100500
Mendelian neurodevelopmental disorder
is_a
MONDO:1040039
OFD1-related ciliopathy
is_a
OFD syndrome 1
exact
OFD1
exact
OFDI
exact
OFDS 1
exact
OFDSI
exact
Papillon-Leage and Psaume syndrome
exact
Papillon-Léage-Psaume syndrome
exact
Papillon-league-Psaume syndrome (formerly)
exact
oral facial digital syndrome 1
exact
oral facial digital syndrome type 1
exact
oral-facial-digital syndrome 1
exact
oral-facial-digital syndrome type 1
exact
oral-facial-digital syndrome, type 1
exact
orofaciodigital syndrome 1
exact
orofaciodigital syndrome I
exact
orofaciodigital syndrome i, X-linked dominant
exact
orofaciodigital syndrome type 1
exact
orofaciodigital syndrome type I
exact