PropertyValue
?:definition
  • A severe form of microphthalmia with characteristics of a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma. Nanophthalmia is generally bilateral. Strabism is present in most patients. Mutations in the MFRP gene (11q23.1) have been found to be responsible for the hereditary form with recessive transmission. Chromosomal anomalies involving chromosome 11p and 2q11-14 have been identified for autosomal dominant forms of nanophthalmia. It may be inherited as an autosomal dominant or recessive trait, or may occur sporadically.
?:hasCUIAnnotation
?:hasGeneratedBy
?:type

Metadata

Anon_0  
<http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://purl.org/net/provenance/ns#DataItem>
<http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://www.w3.org/2004/03/trix/rdfg-1/Graph>
<http://xmlns.com/foaf/0.1/primaryTopic> <https://research.tib.eu/covid-19/entity/C4274282_SNOMEDCT_US>
<http://xmlns.com/foaf/0.1/topic> Anon_0
<http://www.ontologydesignpatterns.org/cp/owl/informationrealization.owl#realizes> <https://research.tib.eu/covid-19/data/entity/C4274282_SNOMEDCT_US>
<http://purl.org/net/provenance/ns#createdBy>
Anon_1   (more)
expand all