Arroyo Garcia Cimadevilla syndrome
http://purl.obolibrary.org/obo/MONDO_0021923
A syndrome characterized by bilateral anophthalmia (absence of one or both eyes), esophageal atresia (the upper esophagus ends and does not connect with the lower esophagus and stomach), and cryptorchidism (a condition in which one or both of the testes fail to descend from the abdomen into the scrotum). This is an n-of-1 use case where only one patient or family has been described with this disorder. [ PMID:1352427 https://orcid.org/0000-0001-5208-3432 ]
Term info
- MESH:C537439 (MONDO:equivalentTo)
- UMLS:C2931494 (MONDO:equivalentTo)
- GARD:0000771 (MONDO:equivalentTo)
gard_rare, n_of_one
A syndrome characterized by bilateral anophthalmia (absence of one or both eyes), esophageal atresia (the upper esophagus ends and does not connect with the lower esophagus and stomach), and cryptorchidism (a condition in which one or both of the testes fail to descend from the abdomen into the scrotum). This is an n-of-1 use case where only one patient or family has been described with this disorder.
http://identifiers.org/mesh/C537439, http://linkedlifedata.com/resource/umls/id/C2931494
bilateral anophthalmia, esophageal atresia, and right cryptorchidism
MONDO:0021923
https://rarediseases.info.nih.gov/diseases/771/arroyo-garcia-cimadevilla-syndrome