Johanson-Blizzard syndrome
A multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015246
obsolete syndromic anorectal malformation (obsolete MONDO:0015246)
excluded_subClassOf
MONDO:0015778
obsolete syndromic hypothyroidism (obsolete MONDO:0015778)
excluded_subClassOf
MONDO:0018762
non-acquired combined pituitary hormone deficiency
excluded_subClassOf
MONDO:0019287
ectodermal dysplasia syndrome
excluded_subClassOf
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0005365
hearing loss disorder
is_a
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0037940
inherited auditory system disease
is_a
MONDO:0100545
hereditary neurological disease
is_a
JBS
exact
Johanson-Blizzard syndrome
exact
nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness
related
pancreatic insufficiency, combined exocrine
exact
SPAC15A10.11 SPBC19C7.02