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Corneal Dystrophy, Juvenile Epithelial of Meesmann

Go to external page http://purl.bioontology.org/ontology/MESH/D053559

An autosomal dominant form of hereditary corneal dystrophy due to a defect in cornea-specific KERATIN formation. Mutations in the genes that encode KERATIN-3 and KERATIN-12 have been linked to this disorder.

Instance info

Synonyms

Meesmann-Hornhautdystrophie (DE), Juvenile epitheliale Korneadystrophie nach Meesmann (DE), Dystrophies, Meesmann Corneal, Corneal Dystrophy, Meesmann Epithelial, Meesmann Corneal Epithelial Dystrophy, Meesmann-Korneadystrophie (DE), Juvenile Hereditary Epithelial Dystrophy, Corneal Dystrophy, Meesmann, Meesmann Epithelial Corneal Dystrophy, Meesmann-Epitheldystrophie (DE), Meesmann Corneal Dystrophy, Meesmann Corneal Dystrophies, Corneal Dystrophies, Meesmann, Korneadystrophie, juvenile epitheliale, Meesmann (DE), Meesmann-Dystrophie (DE)

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

20070101

HN

2007

MDA

20060705

MMR

20130708

MN

C11.270.162.218,C11.204.236.218,C16.320.290.162.204

PM

2007

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/Q000378,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000134,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/Q000821,http://purl.bioontology.org/ontology/MESH/Q000601,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/Q000266,http://purl.bioontology.org/ontology/MESH/Q000145,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/D005642

TERMUI

T812317,T812315,T665600,T665599,T841984,T680083,T680084

TH

NLM (2008),GHR (2014),NLM (2007),ORD (2010),OMIM (2013)

cui

C0339277

hasSTY

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

tui

T019

Instance relations

Types