Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

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Preferred Name	Macrocephaly
Synonyms
ID	http://purl.bioontology.org/ontology/OMIM/MTHU002153
cui	C0221355
Manifestation of	http://purl.bioontology.org/ontology/OMIM/309900 http://purl.bioontology.org/ontology/OMIM/615877 http://purl.bioontology.org/ontology/OMIM/123000 http://purl.bioontology.org/ontology/OMIM/613174 http://purl.bioontology.org/ontology/OMIM/620330 http://purl.bioontology.org/ontology/OMIM/606772 http://purl.bioontology.org/ontology/OMIM/151210 http://purl.bioontology.org/ontology/OMIM/618914 http://purl.bioontology.org/ontology/OMIM/311510 http://purl.bioontology.org/ontology/OMIM/613925 http://purl.bioontology.org/ontology/OMIM/613224 http://purl.bioontology.org/ontology/OMIM/619720 http://purl.bioontology.org/ontology/OMIM/253220 http://purl.bioontology.org/ontology/OMIM/618272 http://purl.bioontology.org/ontology/OMIM/185750 http://purl.bioontology.org/ontology/OMIM/616331 http://purl.bioontology.org/ontology/OMIM/215140 http://purl.bioontology.org/ontology/OMIM/618821 http://purl.bioontology.org/ontology/OMIM/619721 http://purl.bioontology.org/ontology/OMIM/607721 http://purl.bioontology.org/ontology/OMIM/228560 http://purl.bioontology.org/ontology/OMIM/619311 http://purl.bioontology.org/ontology/OMIM/254940 http://purl.bioontology.org/ontology/OMIM/616858 http://purl.bioontology.org/ontology/OMIM/620448 http://purl.bioontology.org/ontology/OMIM/618868 http://purl.bioontology.org/ontology/OMIM/618476 http://purl.bioontology.org/ontology/OMIM/601321 http://purl.bioontology.org/ontology/OMIM/239850 http://purl.bioontology.org/ontology/OMIM/130070 http://purl.bioontology.org/ontology/OMIM/618205 http://purl.bioontology.org/ontology/OMIM/614732 http://purl.bioontology.org/ontology/OMIM/312870 http://purl.bioontology.org/ontology/OMIM/300676 http://purl.bioontology.org/ontology/OMIM/611087 http://purl.bioontology.org/ontology/OMIM/249310 http://purl.bioontology.org/ontology/OMIM/618285 http://purl.bioontology.org/ontology/OMIM/617865 http://purl.bioontology.org/ontology/OMIM/600775 http://purl.bioontology.org/ontology/OMIM/618430 http://purl.bioontology.org/ontology/OMIM/619841 http://purl.bioontology.org/ontology/OMIM/618929 http://purl.bioontology.org/ontology/OMIM/114290 http://purl.bioontology.org/ontology/OMIM/300260 http://purl.bioontology.org/ontology/OMIM/606369 http://purl.bioontology.org/ontology/OMIM/175700 http://purl.bioontology.org/ontology/OMIM/616831 http://purl.bioontology.org/ontology/OMIM/300799 http://purl.bioontology.org/ontology/OMIM/618820 http://purl.bioontology.org/ontology/OMIM/212066 http://purl.bioontology.org/ontology/OMIM/614099 http://purl.bioontology.org/ontology/OMIM/610828 http://purl.bioontology.org/ontology/OMIM/620012 http://purl.bioontology.org/ontology/OMIM/259050 http://purl.bioontology.org/ontology/OMIM/300491 http://purl.bioontology.org/ontology/OMIM/301056 http://purl.bioontology.org/ontology/OMIM/620455 http://purl.bioontology.org/ontology/OMIM/619575 http://purl.bioontology.org/ontology/OMIM/619762 http://purl.bioontology.org/ontology/OMIM/616355 http://purl.bioontology.org/ontology/OMIM/619854 http://purl.bioontology.org/ontology/OMIM/617752 http://purl.bioontology.org/ontology/OMIM/615085 http://purl.bioontology.org/ontology/OMIM/252150 http://purl.bioontology.org/ontology/OMIM/617561 http://purl.bioontology.org/ontology/OMIM/613330 http://purl.bioontology.org/ontology/OMIM/620447 http://purl.bioontology.org/ontology/OMIM/613926 http://purl.bioontology.org/ontology/OMIM/613075 http://purl.bioontology.org/ontology/OMIM/217090 http://purl.bioontology.org/ontology/OMIM/600325 http://purl.bioontology.org/ontology/OMIM/613603 http://purl.bioontology.org/ontology/OMIM/614080 http://purl.bioontology.org/ontology/OMIM/147791 http://purl.bioontology.org/ontology/OMIM/127000 http://purl.bioontology.org/ontology/OMIM/617302 http://purl.bioontology.org/ontology/OMIM/252160 http://purl.bioontology.org/ontology/OMIM/614651 http://purl.bioontology.org/ontology/OMIM/619714 http://purl.bioontology.org/ontology/OMIM/307000 http://purl.bioontology.org/ontology/OMIM/618663 http://purl.bioontology.org/ontology/OMIM/619075 http://purl.bioontology.org/ontology/OMIM/301032 http://purl.bioontology.org/ontology/OMIM/602849 http://purl.bioontology.org/ontology/OMIM/607014 http://purl.bioontology.org/ontology/OMIM/619727 http://purl.bioontology.org/ontology/OMIM/615182 http://purl.bioontology.org/ontology/OMIM/619750 http://purl.bioontology.org/ontology/OMIM/609942 http://purl.bioontology.org/ontology/OMIM/607812 http://purl.bioontology.org/ontology/OMIM/615476 http://purl.bioontology.org/ontology/OMIM/612089 http://purl.bioontology.org/ontology/OMIM/616894 http://purl.bioontology.org/ontology/OMIM/615074 http://purl.bioontology.org/ontology/OMIM/600268 http://purl.bioontology.org/ontology/OMIM/615938 http://purl.bioontology.org/ontology/OMIM/301033 http://purl.bioontology.org/ontology/OMIM/614219 http://purl.bioontology.org/ontology/OMIM/619895 http://purl.bioontology.org/ontology/OMIM/611431 http://purl.bioontology.org/ontology/OMIM/250410 http://purl.bioontology.org/ontology/OMIM/618354 http://purl.bioontology.org/ontology/OMIM/300804 http://purl.bioontology.org/ontology/OMIM/616994 http://purl.bioontology.org/ontology/OMIM/187600 http://purl.bioontology.org/ontology/OMIM/180700 http://purl.bioontology.org/ontology/OMIM/613735 http://purl.bioontology.org/ontology/OMIM/612475 http://purl.bioontology.org/ontology/OMIM/259700 http://purl.bioontology.org/ontology/OMIM/603387 http://purl.bioontology.org/ontology/OMIM/619325 http://purl.bioontology.org/ontology/OMIM/618725 http://purl.bioontology.org/ontology/OMIM/615503 http://purl.bioontology.org/ontology/OMIM/268310 http://purl.bioontology.org/ontology/OMIM/300271 http://purl.bioontology.org/ontology/OMIM/616294 http://purl.bioontology.org/ontology/OMIM/618240 http://purl.bioontology.org/ontology/OMIM/614753 http://purl.bioontology.org/ontology/OMIM/616638 http://purl.bioontology.org/ontology/OMIM/122860 http://purl.bioontology.org/ontology/OMIM/617306 http://purl.bioontology.org/ontology/OMIM/301107 http://purl.bioontology.org/ontology/OMIM/616682 http://purl.bioontology.org/ontology/OMIM/619338 http://purl.bioontology.org/ontology/OMIM/300624 http://purl.bioontology.org/ontology/OMIM/261515 http://purl.bioontology.org/ontology/OMIM/619326 http://purl.bioontology.org/ontology/OMIM/117550 http://purl.bioontology.org/ontology/OMIM/617822 http://purl.bioontology.org/ontology/OMIM/300472 http://purl.bioontology.org/ontology/OMIM/618291 http://purl.bioontology.org/ontology/OMIM/270420 http://purl.bioontology.org/ontology/OMIM/618019 http://purl.bioontology.org/ontology/OMIM/158300 http://purl.bioontology.org/ontology/OMIM/618786 http://purl.bioontology.org/ontology/OMIM/214100 http://purl.bioontology.org/ontology/OMIM/614643 http://purl.bioontology.org/ontology/OMIM/619005 http://purl.bioontology.org/ontology/OMIM/617682 http://purl.bioontology.org/ontology/OMIM/617107 http://purl.bioontology.org/ontology/OMIM/248500 http://purl.bioontology.org/ontology/OMIM/615032 http://purl.bioontology.org/ontology/OMIM/608545 http://purl.bioontology.org/ontology/OMIM/614300 http://purl.bioontology.org/ontology/OMIM/218040 http://purl.bioontology.org/ontology/OMIM/300373 http://purl.bioontology.org/ontology/OMIM/607131 http://purl.bioontology.org/ontology/OMIM/300431 http://purl.bioontology.org/ontology/OMIM/309520 http://purl.bioontology.org/ontology/OMIM/617967 http://purl.bioontology.org/ontology/OMIM/222448 http://purl.bioontology.org/ontology/OMIM/618512 http://purl.bioontology.org/ontology/OMIM/617903 http://purl.bioontology.org/ontology/OMIM/615937 http://purl.bioontology.org/ontology/OMIM/300209 http://purl.bioontology.org/ontology/OMIM/248000 http://purl.bioontology.org/ontology/OMIM/608091 http://purl.bioontology.org/ontology/OMIM/614669 http://purl.bioontology.org/ontology/OMIM/200990 http://purl.bioontology.org/ontology/OMIM/303350 http://purl.bioontology.org/ontology/OMIM/616728 http://purl.bioontology.org/ontology/OMIM/114620 http://purl.bioontology.org/ontology/OMIM/616248 http://purl.bioontology.org/ontology/OMIM/300864 http://purl.bioontology.org/ontology/OMIM/157980 http://purl.bioontology.org/ontology/OMIM/605627 http://purl.bioontology.org/ontology/OMIM/608811 http://purl.bioontology.org/ontology/OMIM/305450 http://purl.bioontology.org/ontology/OMIM/616260 http://purl.bioontology.org/ontology/OMIM/617751 http://purl.bioontology.org/ontology/OMIM/258480 http://purl.bioontology.org/ontology/OMIM/619775 http://purl.bioontology.org/ontology/OMIM/602483 http://purl.bioontology.org/ontology/OMIM/618763 http://purl.bioontology.org/ontology/OMIM/611553 http://purl.bioontology.org/ontology/OMIM/218400 http://purl.bioontology.org/ontology/OMIM/617190 http://purl.bioontology.org/ontology/OMIM/617757 http://purl.bioontology.org/ontology/OMIM/300699 http://purl.bioontology.org/ontology/OMIM/162200 http://purl.bioontology.org/ontology/OMIM/600721 http://purl.bioontology.org/ontology/OMIM/610733 http://purl.bioontology.org/ontology/OMIM/269300 http://purl.bioontology.org/ontology/OMIM/616900 http://purl.bioontology.org/ontology/OMIM/300534 http://purl.bioontology.org/ontology/OMIM/613675 http://purl.bioontology.org/ontology/OMIM/176920 http://purl.bioontology.org/ontology/OMIM/109120 http://purl.bioontology.org/ontology/OMIM/185300 http://purl.bioontology.org/ontology/OMIM/213980 http://purl.bioontology.org/ontology/OMIM/617011 http://purl.bioontology.org/ontology/OMIM/620062 http://purl.bioontology.org/ontology/OMIM/300486 http://purl.bioontology.org/ontology/OMIM/300958 http://purl.bioontology.org/ontology/OMIM/229200 http://purl.bioontology.org/ontology/OMIM/619504 http://purl.bioontology.org/ontology/OMIM/613320 http://purl.bioontology.org/ontology/OMIM/606232 http://purl.bioontology.org/ontology/OMIM/300863 http://purl.bioontology.org/ontology/OMIM/619435 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notation	MTHU002153
prefLabel	Macrocephaly
tui	T019
subClassOf	http://purl.bioontology.org/ontology/OMIM/MTHU000032 http://purl.bioontology.org/ontology/OMIM/MTHU000089 http://purl.bioontology.org/ontology/OMIM/MTHU000086

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MDRGER/10050183	MDRGER	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000182172	NDFRT	CUI
http://purl.bioontology.org/ontology/MDRFRE/10049499	MDRFRE	CUI
http://purl.bioontology.org/ontology/ICPC2P/N85005	ICPC2P	CUI
http://purl.bioontology.org/ontology/MDRFRE/10050183	MDRFRE	CUI
http://purl.bioontology.org/ontology/SCTSPA/12138000	SCTSPA	CUI
http://purl.bioontology.org/ontology/MEDDRA/10088459	MEDDRA	CUI
http://purl.bioontology.org/ontology/MSHFRE/D058627	MSHFRE	CUI
http://purl.bioontology.org/ontology/RCD/XE1Jp	RCD	CUI
http://purl.bioontology.org/ontology/MDRFRE/10088459	MDRFRE	CUI
http://purl.bioontology.org/ontology/MESH/D058627	MESH	CUI
http://purl.bioontology.org/ontology/MEDDRA/10050183	MEDDRA	CUI
http://purl.bioontology.org/ontology/ICD10CM/Q75.3	ICD10CM	CUI
http://purl.bioontology.org/ontology/ICD10/Q75.3	ICD10	CUI
http://purl.bioontology.org/ontology/MEDDRA/10049499	MEDDRA	CUI
http://purl.bioontology.org/ontology/SNMI/D4-91054	SNMI	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/12138000	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MDRGER/10088459	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRGER/10049499	MDRGER	CUI
http://purl.obolibrary.org/obo/HP_0000256	EFO	LOOM
http://purl.obolibrary.org/obo/HP_0000256	HP	LOOM
http://purl.obolibrary.org/obo/HP_0000256	DOID	LOOM
http://purl.obolibrary.org/obo/HP_0000256	OBA	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.666.507.343	RH-MESH	LOOM
http://vocab.vodan-totafrica.info/vodana-terms/vdiseases/LB70.3	VODANADISEASES	LOOM
http://purl.bioontology.org/ontology/ICPC2P/N85005	ICPC2P	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D058627	RH-MESH	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#21403	OCHV	LOOM
http://www.gamuts.net/entity#macrocephaly	GAMUTS	LOOM
http://purl.bioontology.org/ontology/RCD/XE1Jp	RCD	LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:0056	IFAR	LOOM
http://purl.jp/bio/4/id/200906079140911200	IOBC	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Macrocephaly	CSEO	LOOM
http://purl.obolibrary.org/obo/NCIT_C35268	BERO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C35268	NCIT	LOOM
http://www.semanticweb.org/danielhier/ontologies/2019/3/untitled-ontology-57/macrocephaly	MEPO	LOOM
http://www.semanticweb.org/danielhier/ontologies/2019/3/untitled-ontology-57/macrocephaly	EPISEM	LOOM
http://www.semanticweb.org/danielhier/ontologies/2019/3/untitled-ontology-57/macrocephaly	NEO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10050183	MEDDRA	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/1145403003	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q75.3	ICD10CM	LOOM
http://purl.org/obo/owl/HP#HP_0000256	BDO	LOOM
http://purl.bioontology.org/ontology/ICD10/Q75.3	ICD10	LOOM
http://purl.bioontology.org/ontology/SNMI/D4-91054	SNMI	LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Macrocephaly	PEDTERM	LOOM
http://purl.bioontology.org/ontology/RCTV2/PG0H.00	RCTV2	LOOM
http://purl.obolibrary.org/obo/HP_0000256	HHEAR	LOOM
http://purl.obolibrary.org/obo/HP_0000256	UPHENO	LOOM
http://purl.obolibrary.org/obo/HP_0000256	NIFSTD	LOOM
http://purl.obolibrary.org/obo/HP_0000256	MAXO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.500.507.374	RH-MESH	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0221355	OCHV	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00002329	PMAPP-PMO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.621.207.532	RH-MESH	LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Macrocephaly	RPO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.660.207.536	RH-MESH	LOOM