rare disease | Q929833 |
class of disease | Q112193867 |
autosomal recessive disease | Q10267817 |
ectopia lentis | Q1827028 |
eye disease | Q3041498 |
ectopia pupillae | Q55780535 |
P699 | Disease Ontology ID | DOID:0111648 |
P2888 | exact match | http://identifiers.org/doid/DOID:0111648 |
http://purl.obolibrary.org/obo/DOID_0111648 | ||
http://www.orpha.net/ORDO/Orphanet_1885 | ||
P486 | MeSH descriptor ID | C563268 |
P5270 | Mondo ID | MONDO_0009153 |
P492 | OMIM ID | 225200 |
225200 | ||
P2892 | UMLS CUI | C1644196 |
P11430 | UniProt disease ID | DI-03690 |
P2293 | genetic association | ADAMTSL4 | Q18041056 |
P5008 | on focus list of Wikimedia project | WikiProject Medicine | Q4099686 |
Q64048591 | Cleft lip and palate with ectopia lentis et pupillae |
Q34165271 | Clinical manifestations of ectopia lentis et pupillae in 16 patients |
Q68103121 | Clinical manifestations of ectopia lentis et pupillae in 16 patients |
Q91701693 | Ectopia Lentis et Pupillae Caused by ADAMTSL4 Pathogenic Variants and an Algorithm for Work-up |
Q43483058 | Ectopia lentis et pupillae in four generations caused by novel mutations in the ADAMTSL4 gene |
Q37310655 | Ectopia lentis et pupillae syndrome in three generations |
Q77481795 | Ectopia lentis et pupillae with patchy depigmentation of the skin, hair and lashes: a new association |
Q51830530 | Ectopia lentis et pupillae: report of a unilateral case and surgical management. |
Q36912984 | Ectopia lentis et pupillae: the genetic aspects and differential diagnosis |
Q33233518 | Management of bilateral ectopia lentis et pupillae syndrome |
Q91125943 | Spontaneous 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] |
Search more.