Medical Subject Headings / 医学主题词表

Last uploaded: September 7, 2023

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Preferred Name	Amelogenesis Imperfecta
Synonyms	Congenital Enamel Hypoplasia
Definitions	A clinically and genetically heterogeneous group of hereditary conditions characterized by malformed DENTAL ENAMEL, usually involving DENTAL ENAMEL HYPOPLASIA and/or TOOTH HYPOMINERALIZATION.
ID	http://purl.bioontology.org/ontology/MESH/D000567
altLabel	Congenital Enamel Hypoplasia
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	C0002452
DC	1
definition	A clinically and genetically heterogeneous group of hereditary conditions characterized by malformed DENTAL ENAMEL, usually involving DENTAL ENAMEL HYPOPLASIA and/or TOOTH HYPOMINERALIZATION.
DX	19650101
HN	65
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000469
Machine permutation	65
Mapped from	http://purl.bioontology.org/ontology/MESH/C567706 http://purl.bioontology.org/ontology/MESH/C538242 http://purl.bioontology.org/ontology/MESH/C562880 http://purl.bioontology.org/ontology/MESH/C567279 http://purl.bioontology.org/ontology/MESH/C567147 http://purl.bioontology.org/ontology/MESH/C535994 http://purl.bioontology.org/ontology/MESH/C566293 http://purl.bioontology.org/ontology/MESH/C000596385 http://purl.bioontology.org/ontology/MESH/C538241 http://purl.bioontology.org/ontology/MESH/C562879 http://purl.bioontology.org/ontology/MESH/C536538 http://purl.bioontology.org/ontology/MESH/C537213 http://purl.bioontology.org/ontology/MESH/C567146 http://purl.bioontology.org/ontology/MESH/C538243 http://purl.bioontology.org/ontology/MESH/C538240 http://purl.bioontology.org/ontology/MESH/C535976 http://purl.bioontology.org/ontology/MESH/C564463 http://purl.bioontology.org/ontology/MESH/C536606
MDA	19990101
MMR	20220523
MN	C07.650.800.295.250 C16.131.850.800.295.250 C07.793.700.295.250
notation	D000567
prefLabel	Amelogenesis Imperfecta
TERMUI	T001744 T843444
TH	NLM (1965) NLM (2014) GHR (2014)
tui	T019
subClassOf	http://purl.bioontology.org/ontology/MESH/D000094602

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/ICD10CM/K00.5	International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改	CUI
http://purl.obolibrary.org/obo/DOID_2187	BioAssay Ontology / 生物活性分析本体	LOOM
http://purl.obolibrary.org/obo/DOID_2187	Human Disease Ontology / 人类疾病本体	LOOM
http://purl.obolibrary.org/obo/MONDO_0019507	Mondo Disease Ontology / Mondo疾病本体	LOOM
http://purl.obolibrary.org/obo/MONDO_0019507	Experimental Factor Ontology / 实验性因素本体	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU037342	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU037342	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	LOOM
http://purl.obolibrary.org/obo/HP_0000705	Human Phenotype Ontology / 人类表型本体	LOOM
http://www.orpha.net/ORDO/Orphanet_88661	Orphanet Rare Disease Ontology / Orphanet罕见病本体	LOOM
http://purl.bmicc.cn/ontology/ICD11CN/LA30.6	《国际疾病分类》第11版中文版 / International Classification of Diseases, 11th Edition, China	LOOM