Aniridia

Go to external page http://purl.bioontology.org/ontology/MESH/D015783


A congenital abnormality in which there is only a rudimentary iris. This is due to the failure of the optic cup to grow. Aniridia also occurs in a hereditary form, usually autosomal dominant.

Instance info

Synonyms

Absent Iris, Aniridie (DE), Congenital Aniridia, Irideremia

AN

rudimentary iris; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES

AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

DC

1

DX

19900101

HN

90

MDA

19890525

MMR

20130708

MN

C11.250.060,C11.941.375.060,C11.270.060,C16.131.384.079,C16.320.290.078

PM

90

QB

http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503

SIB

http://purl.bioontology.org/ontology/MESH/D016569,http://purl.bioontology.org/ontology/MESH/D057130,http://purl.bioontology.org/ontology/MESH/D015799,http://purl.bioontology.org/ontology/MESH/D058540,http://purl.bioontology.org/ontology/MESH/D015811,http://purl.bioontology.org/ontology/MESH/D015794,http://purl.bioontology.org/ontology/MESH/D015418,http://purl.bioontology.org/ontology/MESH/D054514,http://purl.bioontology.org/ontology/MESH/D057826,http://purl.bioontology.org/ontology/MESH/D004479,http://purl.bioontology.org/ontology/MESH/D003103,http://purl.bioontology.org/ontology/MESH/D000077765,http://purl.bioontology.org/ontology/MESH/D057129,http://purl.bioontology.org/ontology/MESH/D007500,http://purl.bioontology.org/ontology/MESH/D000417,http://purl.bioontology.org/ontology/MESH/D000853,http://purl.bioontology.org/ontology/MESH/D058494,http://purl.bioontology.org/ontology/MESH/D017889,http://purl.bioontology.org/ontology/MESH/D015863,http://purl.bioontology.org/ontology/MESH/D058497,http://purl.bioontology.org/ontology/MESH/D012175,http://purl.bioontology.org/ontology/MESH/D012174,http://purl.bioontology.org/ontology/MESH/D000071700,http://purl.bioontology.org/ontology/MESH/D008850,http://purl.bioontology.org/ontology/MESH/D006871,http://purl.bioontology.org/ontology/MESH/D004370,http://purl.bioontology.org/ontology/MESH/D049970,http://purl.bioontology.org/ontology/MESH/D056846,http://purl.bioontology.org/ontology/MESH/D015792,http://purl.bioontology.org/ontology/MESH/D012162,http://purl.bioontology.org/ontology/MESH/D003317

TERMUI

T840905,T840906,T046805,T840907

TH

NLM (1990),GHR (2014),ORD (2010),OMIM (2013)

cui

C0003076

hasSTY

http://purl.bioontology.org/ontology/STY/T019

mapped from

http://purl.bioontology.org/ontology/MESH/C536370,http://purl.bioontology.org/ontology/MESH/C536568,http://purl.bioontology.org/ontology/MESH/C566281,http://purl.bioontology.org/ontology/MESH/C536723,http://purl.bioontology.org/ontology/MESH/C566280,http://purl.bioontology.org/ontology/MESH/C000598722,http://purl.bioontology.org/ontology/MESH/C536372

tui

T019

Instance relations

Types