Login Preferences
About News Publications Statistics Downloads API Guide License How to use Preferences
bn:15165236n
Noun Concept
Categories: Syndromes affecting stature, Genetic disorders with OMIM but no gene, Diseases named for discoverer, Syndromes affecting hearing
EN
Abruzzo–Erickson syndrome  ABRUZZO-ERICKSON SYNDROME  Abruzzo erickson syndrome  ABERS  ABRUZZO-ERICKSON SYNDROME; ABERS
EN
Abruzzo–Erickson syndrome is an extremely rare disorder characterized by deafness, protruding ears, coloboma, a cleft palate or palatal rugosity, radial synostosis, and short stature. Wikipedia
Definitions
Relations
Sources
EN
Abruzzo–Erickson syndrome is an extremely rare disorder characterized by deafness, protruding ears, coloboma, a cleft palate or palatal rugosity, radial synostosis, and short stature. Wikipedia
human disease Wikidata
IS A
disease
rare disease
syndrome
coloboma
genetic deafness
+1 relations
GENETIC ASSOCIATION
TBX22
Wikipedia
EN
Abruzzo–Erickson syndrome
Wikidata
EN
Abruzzo–Erickson syndrome
Wikipedia Redirections
EN
Abruzzo-Erickson Syndrome, Abruzzo erickson syndrome, Abruzzo Erickson syndrome
Wikidata Alias
EN
ABERS, ABRUZZO-ERICKSON SYNDROME, Abruzzo-Erickson syndrome, ABRUZZO-ERICKSON SYNDROME; ABERS, CHARGE-like syndrome, Charge-Like Syndrome, X-Linked, CHARGE like syndrome X-linked, Cleft palate-coloboma-deafness syndrome

Please note that, in order to improve your browsing experience on this website, BabelNet® uses various types of cookies, including: browsing functionality, performance and statistical cookies.

By continuing to browse the site you are agreeing to our use of cookies. OK

License