Terminology Service for NFDI4Health

Sensenbrenner syndrome

Go to external page http://purl.obolibrary.org/obo/DOID_0050577


A syndrome that is characterized by microcephaly, bradydactyly, hypodontia, renal failure, cardiac defects, liver fibrosis and other gross physical abnormalities and has_material_basis_in recessive mutations in genes that control intraflagellar transport. [ http://purl.obolibrary.org/obo/ECO_0007638 ]

Term info

Label

Sensenbrenner syndrome

Synonyms
  • Levin syndrome
  • cranioectodermal dysplasia
database cross reference
comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

id

DOID:0050577