Pallister-Hall syndrome
Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations.
MONDO:0002254
syndromic disease
is_a
MONDO:0015160
multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a
MONDO:0018762
non-acquired combined pituitary hormone deficiency
is_a
MONDO:0800066
polydactyly-syndactyly-triphalangism
is_a
PHS
exact
Pallister Hall syndrome
exact
Pallister-Hall syndrome
exact
ano-cerebro-digital syndrome
exact
hypothalamic hamartoblastoma syndrome
exact
hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly
exact