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aniridia-renal agenesis-psychomotor retardation syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008796

Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974. [ Orphanet:1064 ]

Term info

database cross reference
  • SCTID:733116005 (MONDO:equivalentTo)
  • MESH:C000598722 (MONDO:equivalentTo)
  • GARD:0000690 (MONDO:equivalentTo)
  • OMIM:206750 (Orphanet:1064/e)
  • Orphanet:1064 (OMIM:206750)
  • UMLS:C1859782 (Orphanet:1064/e)
Subsets

ordo_malformation_syndrome

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5588

definition

Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.

exactMatch

https://omim.org/entry/206750, http://identifiers.org/mesh/C000598722, http://identifiers.org/snomedct/733116005, http://linkedlifedata.com/resource/umls/id/C1859782, http://purl.obolibrary.org/obo/Orphanet_1064

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

has exact synonym

Sommer-Rathbun-Battles syndrome

has related synonym

aniridia, partial, with unilateral renal agenesis and psychomotor retardation, Sommer Rathbun Battles syndrome, aniridia partial with unilateral renal agenesis and psychomotor retardation, aniridia renal agenesis psychomotor retardation

id

MONDO:0008796