cataract 41

cataract that has material basis in heterozygous mutation in the WFS1 gene on chromosome 4p16

cataract 41 is …
instance of (P31):
rare diseaseQ929833
developmental defect during embryogenesisQ55788864
class of diseaseQ112193867

sublass of (P279):
cataractQ127724
autosomal dominant diseaseQ18553439

External links are
P699Disease Ontology IDDOID:0110241
P2888exact matchhttp://identifiers.org/doid/DOID:0110241
http://purl.obolibrary.org/obo/DOID_0110241
P4229ICD-10-CMQ12.0
P5270Mondo IDMONDO_0007287
P492OMIM ID116400
116400
P2892UMLS CUIC1861826
C3805412
P11430UniProt disease IDDI-04010

P2293genetic associationWFS1Q18032353
P1995health specialtymedical geneticsQ1071953
P5008on focus list of Wikimedia projectWikiProject MedicineQ4099686

Reverse relations

Q18032353WFS1genetic associationP2293

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