OBO ID: DOID:0060381
Term Name: orofaciodigital syndrome XI Search Ontology:
Synonyms:
Definition: An orofaciodigital syndrome that is characterized by blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures, low set ears, skeletal malformations, intellectual deficits, deafness and congenital heart defects. https://rarediseases.info.nih.gov/diseases/4118/orofaciodigital-syndrome-11
References:
Ontology: Human Disease   ( DOID:0060381 )
Relationships
is a type of:
OTHER orofaciodigital syndrome XI PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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