Terminology Service < Semantic Lookup Platform

Cone-Rod Dystrophies

http://purl.bioontology.org/ontology/MESH/D000071700

Genetically heterogeneous and sometimes syndromic (e.g., BARDET BIEDL SYNDROME; and SPINOCEREBELLAR ATAXIA TYPE 7) retinopathies with initial RETINAL CONE involvement. They are characterized by decreased VISUAL ACUITY; COLOR VISION DEFECTS; progressive loss of peripheral vision and night blindness.

Tree view

Instance info

Synonyms

Cone-Rod Dystrophy, Retinal, Staebchen-Zapfen-Dystrophie (DE), Cone Rod Dystrophy 2, Zapfen-Staebchen-Degenerationen (DE), Retinal Dystrophy, Cone-Rod, Cone-Rod Degenerations, Zapfen-Stäbchen-Dystrophien (DE), Retinal Cone-Rod Dystrophy, Cone-Rod Degeneration, Cone-Rod Dystrophy, Rod Cone Dystrophies, Rod Cone Dystrophy, Stäbchen-Zapfen-Dystrophie (DE), Cone-Rod Dystrophies, Retinal, Retinal Cone Rod Dystrophy, Cone Rod Dystrophies, Cone Rod Retinal Dystrophy, Cone-Rod Retinal Dystrophy, Retinal Dystrophies, Cone-Rod, Zapfen-Stäbchen-Dystrophie (DE), Rod-Cone Dystrophy, Cone Rod Degenerations, Cone-Rod Dystrophy 2, Rod-Cone Dystrophies, Zapfen-Stäbchen-Dystrophie 2 (DE), Retinal Cone-Rod Dystrophies, Zapfen-Staebchen-Dystrophie 2 (DE), Zapfen-Staebchen-Dystrophie, Netzhaut (DE), Cone-Rod Retinal Dystrophies, Zapfen-Staebchen-Dystrophien (DE), Zapfen-Stäbchen-Degenerationen (DE), Zapfen-Stäbchen-Dystrophie, Netzhaut (DE), Cone Rod Dystrophy

ROD CONE DYSTROPHIES see RETINITIS PIGMENTOSA is also available

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

20170101

2017; use RETINITIS PIGMENTOSA 2011-2016

MDA

20160705

MMR

20180630

C16.320.290.152,C11.270.152,C11.768.585.658.250

2017; see RETINITIS PIGMENTOSA 2011-2016

http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000097,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/Q000532,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000821,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/Q000662,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000266,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/D057130,http://purl.bioontology.org/ontology/MESH/D015799,http://purl.bioontology.org/ontology/MESH/D058540,http://purl.bioontology.org/ontology/MESH/D012175,http://purl.bioontology.org/ontology/MESH/D012174,http://purl.bioontology.org/ontology/MESH/D015783,http://purl.bioontology.org/ontology/MESH/D015794,http://purl.bioontology.org/ontology/MESH/D015418,http://purl.bioontology.org/ontology/MESH/D004370,http://purl.bioontology.org/ontology/MESH/D049970,http://purl.bioontology.org/ontology/MESH/D057826,http://purl.bioontology.org/ontology/MESH/D056846,http://purl.bioontology.org/ontology/MESH/D000077765,http://purl.bioontology.org/ontology/MESH/D003103,http://purl.bioontology.org/ontology/MESH/D015792,http://purl.bioontology.org/ontology/MESH/D012162,http://purl.bioontology.org/ontology/MESH/D000417,http://purl.bioontology.org/ontology/MESH/D003317,http://purl.bioontology.org/ontology/MESH/D058494

TERMUI

T811867,T767042,T767045,T036234,T811870,T811871,T000897292,T036233

GHR (2014),NLM (1990),NLM (2017),OMIM (2013),NLM (2011)

cui

C3489532,C4085590,C4551714

hasSTY

http://purl.bioontology.org/ontology/STY/T047

tui

T047

Instance relations

Types

Class