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Last uploaded: August 28, 2024

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Preferred Name	Corneal Dystrophies, Hereditary
Synonyms	Dystrophy, Hereditary Corneal Granular Dystrophy, Corneal Corneal Stromal Dystrophies Dystrophy, Corneal Macular Stromal Dystrophy, Corneal Groenouw's Dystrophies Corneal Dystrophy, Hereditary Dystrophy, Corneal Granular Stromal Dystrophies, Corneal Corneal Macular Dystrophy Dystrophy, Corneal Stromal Corneal Dystrophies Dystrophy, Corneal Corneal Granular Dystrophies Corneal Stromal Dystrophy Groenouw Dystrophies Corneal Dystrophy Groenouws Dystrophies Hereditary Corneal Dystrophy Macular Dystrophy, Corneal Corneal Macular Dystrophies Hereditary Corneal Dystrophies Corneal Granular Dystrophy
Definitions	Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect.
ID	http://purl.bioontology.org/ontology/MESH/D003317
altLabel	Dystrophy, Hereditary Corneal Granular Dystrophy, Corneal Corneal Stromal Dystrophies Dystrophy, Corneal Macular Stromal Dystrophy, Corneal Groenouw's Dystrophies Corneal Dystrophy, Hereditary Dystrophy, Corneal Granular Stromal Dystrophies, Corneal Corneal Macular Dystrophy Dystrophy, Corneal Stromal Corneal Dystrophies Dystrophy, Corneal Corneal Granular Dystrophies Corneal Stromal Dystrophy Groenouw Dystrophies Corneal Dystrophy Groenouws Dystrophies Hereditary Corneal Dystrophy Macular Dystrophy, Corneal Corneal Macular Dystrophies Hereditary Corneal Dystrophies Corneal Granular Dystrophy
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
cui	C0018245 C0038457 C0018179 C0010035 C0024439
DC	1
definition	Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect.
DX	19900101
HN	90; was CORNEAL DYSTROPHIES 1963-89
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401
Machine permutation	90; was CORNEAL DYSTROPHIES 1963-89
Mapped from	http://purl.bioontology.org/ontology/MESH/C535356 http://purl.bioontology.org/ontology/MESH/C537692 http://purl.bioontology.org/ontology/MESH/C563262 http://purl.bioontology.org/ontology/MESH/C563607 http://purl.bioontology.org/ontology/MESH/C563270 http://purl.bioontology.org/ontology/MESH/C563923 http://purl.bioontology.org/ontology/MESH/C563921 http://purl.bioontology.org/ontology/MESH/C537835 http://purl.bioontology.org/ontology/MESH/C537834 http://purl.bioontology.org/ontology/MESH/C536989 http://purl.bioontology.org/ontology/MESH/C537096 http://purl.bioontology.org/ontology/MESH/C535472 http://purl.bioontology.org/ontology/MESH/C535476 http://purl.bioontology.org/ontology/MESH/C535475 http://purl.bioontology.org/ontology/MESH/C535474 http://purl.bioontology.org/ontology/MESH/C535473 http://purl.bioontology.org/ontology/MESH/C535828 http://purl.bioontology.org/ontology/MESH/C535440 http://purl.bioontology.org/ontology/MESH/C567588 http://purl.bioontology.org/ontology/MESH/C567587 http://purl.bioontology.org/ontology/MESH/C538125 http://purl.bioontology.org/ontology/MESH/C562399 http://purl.bioontology.org/ontology/MESH/C535375 http://purl.bioontology.org/ontology/MESH/C535942 http://purl.bioontology.org/ontology/MESH/C537304 http://purl.bioontology.org/ontology/MESH/C537732 http://purl.bioontology.org/ontology/MESH/C537363 http://purl.bioontology.org/ontology/MESH/C537858 http://purl.bioontology.org/ontology/MESH/C565591 http://purl.bioontology.org/ontology/MESH/C537459 http://purl.bioontology.org/ontology/MESH/C566236 http://purl.bioontology.org/ontology/MESH/C000657784 http://purl.bioontology.org/ontology/MESH/C535480 http://purl.bioontology.org/ontology/MESH/C562746 http://purl.bioontology.org/ontology/MESH/C562745 http://purl.bioontology.org/ontology/MESH/C566452 http://purl.bioontology.org/ontology/MESH/C565155 http://purl.bioontology.org/ontology/MESH/C565156 http://purl.bioontology.org/ontology/MESH/C565157 http://purl.bioontology.org/ontology/MESH/C563788 http://purl.bioontology.org/ontology/MESH/C537229 http://purl.bioontology.org/ontology/MESH/C565176 http://purl.bioontology.org/ontology/MESH/C566660 http://purl.bioontology.org/ontology/MESH/C536444 http://purl.bioontology.org/ontology/MESH/C567546 http://purl.bioontology.org/ontology/MESH/C567547 http://purl.bioontology.org/ontology/MESH/C536439 http://purl.bioontology.org/ontology/MESH/C563256 http://purl.bioontology.org/ontology/MESH/C537881
MDA	19990101
MMR	20200228
MN	C11.204.236 C16.320.290.162 C11.270.162
notation	D003317
OL	use CORNEAL DYSTROPHIES, HEREDITARY to search CORNEAL DYSTROPHIES 1966-89
prefLabel	Corneal Dystrophies, Hereditary
TERMUI	T009698 T009699 T001003123 T009697 T009701 T009700
TH	NLM (1966) NLM (1990) NLM (2021)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/MESH/D015785 http://purl.bioontology.org/ontology/MESH/D003316

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MSHFRE/D003317	MSHFRE	CUI
http://purl.bioontology.org/ontology/MSHFRE/D003317	MSHFRE	CUI
http://purl.bioontology.org/ontology/ICD9CM/371.53	ICD9CM	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/60258001	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/231931001	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/231931001	SCTSPA	CUI
http://purl.bioontology.org/ontology/RCD/X00bJ	RCD	CUI
http://purl.bioontology.org/ontology/MSHFRE/D003317	MSHFRE	CUI
http://purl.bioontology.org/ontology/SNMI/DA-75410	SNMI	CUI
http://purl.bioontology.org/ontology/MDRFRE/10018673	MDRFRE	CUI
http://purl.bioontology.org/ontology/SCTSPA/45283008	SCTSPA	CUI
http://purl.bioontology.org/ontology/MEDDRA/10018673	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRGER/10018673	MDRGER	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/45283008	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/RCD/F4B53	RCD	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU074621	OMIM	CUI
http://purl.bioontology.org/ontology/ICD10CM/H18.53	ICD10CM	CUI
http://purl.bioontology.org/ontology/MSHFRE/D003317	MSHFRE	CUI
http://purl.bioontology.org/ontology/SCTSPA/77797009	SCTSPA	CUI
http://purl.bioontology.org/ontology/ICD9CM/371.5	ICD9CM	CUI
http://purl.bioontology.org/ontology/ICD10/H18.5	ICD10	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/77797009	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000852	NDFRT	CUI
http://purl.bioontology.org/ontology/MDRGER/10019868	MDRGER	CUI
http://purl.bioontology.org/ontology/MEDDRA/10019868	MEDDRA	CUI
http://purl.bioontology.org/ontology/ICD10CM/H18.5	ICD10CM	CUI
http://purl.bioontology.org/ontology/ICD10CM/H18.50	ICD10CM	CUI
http://purl.bioontology.org/ontology/MDRFRE/10019868	MDRFRE	CUI
http://purl.bioontology.org/ontology/SNMI/DA-75400	SNMI	CUI
http://purl.bioontology.org/ontology/ICD9CM/371.50	ICD9CM	CUI
http://purl.bioontology.org/ontology/MSHFRE/D003317	MSHFRE	CUI
http://purl.bioontology.org/ontology/ICD9CM/371.55	ICD9CM	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU037954	OMIM	CUI
http://purl.bioontology.org/ontology/MEDDRA/10025406	MEDDRA	CUI
http://purl.bioontology.org/ontology/SCTSPA/60258001	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNMI/DA-75414	SNMI	CUI
http://purl.bioontology.org/ontology/RCD/F4B55	RCD	CUI
http://purl.bioontology.org/ontology/MDRFRE/10025406	MDRFRE	CUI
http://purl.bioontology.org/ontology/MDRGER/10025406	MDRGER	CUI
http://purl.bioontology.org/ontology/ICD10CM/H18.55	ICD10CM	CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.270.162	RH-MESH	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036600	PMAPP-PMO	LOOM
http://purl.obolibrary.org/obo/OMIT_0004621	OMIT	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.290.162	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D003317	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.204.236	RH-MESH	LOOM