Cell Cycle Ontology

Last uploaded: June 26, 2014
Preferred Name

Robinow-Sorauf syndrome

Synonyms
Definitions

(RSS): An autosomal dominant syndrome characterized by craniosynostosis, asymmetry of orbits, flat face, hypertelorism, a thin, long, and pointed nose, shallow orbits, strabismus, and broad great toes with a duplication of the distal phalanx. RSS is clinically similar to Saethre-Chotzen syndrome, with the most characteristic additional feature in Robinow-Sorauf syndrome being a bifid or partially duplicated hallux.

ID

http://purl.obolibrary.org/obo/OMIM_180750

definition

(RSS): An autosomal dominant syndrome characterized by craniosynostosis, asymmetry of orbits, flat face, hypertelorism, a thin, long, and pointed nose, shallow orbits, strabismus, and broad great toes with a duplication of the distal phalanx. RSS is clinically similar to Saethre-Chotzen syndrome, with the most characteristic additional feature in Robinow-Sorauf syndrome being a bifid or partially duplicated hallux.

has_obo_namespace

cell_cycle_ontology

id

OMIM:180750

label

Robinow-Sorauf syndrome

notation

OMIM:180750

prefLabel

Robinow-Sorauf syndrome

treeView

http://purl.obolibrary.org/obo/OGMS_0000031

subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031

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