Disease association ontology term - MONDO:0009479 - Johanson-Blizzard syndrome

Term summary

ID

MONDO:0009479

Name

Johanson-Blizzard syndrome

Ontology or CV name

Disease association

Definition

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.

Parents

• excluded_subClassOf syndromic intellectual disability
• excluded_subClassOf obsolete syndromic anorectal malformation (obsolete MONDO:0015246)
• excluded_subClassOf obsolete syndromic hypothyroidism (obsolete MONDO:0015778)
• excluded_subClassOf non-acquired combined pituitary hormone deficiency
• excluded_subClassOf ectodermal dysplasia syndrome
• is_a congenital nervous system disorder
• is_a hearing loss disorder
• is_a autosomal recessive disease
• is_a multiple congenital anomalies/dysmorphic syndrome-intellectual disability
• is_a inherited auditory system disease
• is_a hereditary neurological disease

Annotation