Preferred Name

Bonnevie-Ullrich syndrome

Synonyms

Bonnevie-Ulrich syndrome

Bonnevie-Ullrich syndrome

Definitions

A genetic syndrome which occurs in females. It is caused by the inheritance of only one complete X chromosome (45, X). Clinical signs of the symmetrical form are identical to those of Turner syndrome and include bilateral webbing of the neck and edema of the extremities. Clinical characteristics include decreased stature and under-developed sexual organs. Patients usually have a normal life expectancy.

ID

http://purl.obolibrary.org/obo/MONDO_0100492

altLabel

Bonnevie-Ulrich syndrome

Bonnevie-Ullrich syndrome

created_by

http://orcid.org/0000-0001-5208-3432

definition

A genetic syndrome which occurs in females. It is caused by the inheritance of only one complete X chromosome (45, X). Clinical signs of the symmetrical form are identical to those of Turner syndrome and include bilateral webbing of the neck and edema of the extremities. Clinical characteristics include decreased stature and under-developed sexual organs. Patients usually have a normal life expectancy.

has_exact_synonym

Bonnevie-Ullrich syndrome

has_related_synonym

Bonnevie-Ulrich syndrome

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/5089

label

Bonnevie-Ullrich syndrome

prefixIRI

MONDO:0100492

prefLabel

Bonnevie-Ullrich syndrome

textual definition

A genetic syndrome which occurs in females. It is caused by the inheritance of only one complete X chromosome (45, X). Clinical signs of the symmetrical form are identical to those of Turner syndrome and include bilateral webbing of the neck and edema of the extremities. Clinical characteristics include decreased stature and under-developed sexual organs. Patients usually have a normal life expectancy.

subClassOf

http://purl.obolibrary.org/obo/MONDO_0002254

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