ectopia lentis et pupillae

human disease

ectopia lentis et pupillae is …
instance of (P31):
rare diseaseQ929833
class of diseaseQ112193867

sublass of (P279):
autosomal recessive diseaseQ10267817
ectopia lentisQ1827028
eye diseaseQ3041498
ectopia pupillaeQ55780535

External links are
P699Disease Ontology IDDOID:0111648
P2888exact matchhttp://identifiers.org/doid/DOID:0111648
http://purl.obolibrary.org/obo/DOID_0111648
http://www.orpha.net/ORDO/Orphanet_1885
P486MeSH descriptor IDC563268
P5270Mondo IDMONDO_0009153
P492OMIM ID225200
225200
P2892UMLS CUIC1644196
P11430UniProt disease IDDI-03690

P2293genetic associationADAMTSL4Q18041056
P5008on focus list of Wikimedia projectWikiProject MedicineQ4099686

Reverse relations

main subject (P921)
Q64048591Cleft lip and palate with ectopia lentis et pupillae
Q34165271Clinical manifestations of ectopia lentis et pupillae in 16 patients
Q68103121Clinical manifestations of ectopia lentis et pupillae in 16 patients
Q91701693Ectopia Lentis et Pupillae Caused by ADAMTSL4 Pathogenic Variants and an Algorithm for Work-up
Q43483058Ectopia lentis et pupillae in four generations caused by novel mutations in the ADAMTSL4 gene
Q37310655Ectopia lentis et pupillae syndrome in three generations
Q77481795Ectopia lentis et pupillae with patchy depigmentation of the skin, hair and lashes: a new association
Q51830530Ectopia lentis et pupillae: report of a unilateral case and surgical management.
Q36912984Ectopia lentis et pupillae: the genetic aspects and differential diagnosis
Q33233518Management of bilateral ectopia lentis et pupillae syndrome
Q91125943Spontaneous anterior dislocation of lens in a case of ectopia lentis et pupillae: a rare entity treated by a novel technique of microscope integrated optical coherence tomography (MIOCT) guided intralenticular lens aspiration
Q79898020[Ectopia lentis et pupillae: case report]

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