Medical Subject Headings

Last uploaded: November 5, 2019

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Preferred Name	Holoprosencephaly
Synonyms	Holoprosencephaly, Lobar
Definitions	Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe INTELLECTUAL DISABILITY; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of INTELLECTUAL DISABILITY. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild INTELLECTUAL DISABILITY to normal. Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES.
ID	http://purl.bioontology.org/ontology/MESH/D016142
altLabel	Holoprosencephaly, Lobar Holoprosencephalies, Semilobar Semilobar Holoprosencephalies Holoprosencephalies, Alobar Lobar Holoprosencephaly Holoprosencephalies, Lobar Holoprosencephalies Holoprosencephaly, Alobar Holoprosencephaly, Familial Alobar Holoprosencephaly, Semilobar Semilobar Holoprosencephaly Arhinencephaly Alobar Holoprosencephalies Arhinencephalies Alobar Holoprosencephaly Lobar Holoprosencephalies
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	C0078982 C0751617 C0431362 C0431363 C0079541
DC	1
definition	Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe INTELLECTUAL DISABILITY; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of INTELLECTUAL DISABILITY. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild INTELLECTUAL DISABILITY to normal. Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES.
DX	19910101
HN	91
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
Inverse of SIB	http://purl.bioontology.org/ontology/MESH/D001816 http://purl.bioontology.org/ontology/MESH/D010985 http://purl.bioontology.org/ontology/MESH/D056889 http://purl.bioontology.org/ontology/MESH/D056732 http://purl.bioontology.org/ontology/MESH/D000073839 http://purl.bioontology.org/ontology/MESH/D018980 http://purl.bioontology.org/ontology/MESH/D016878 http://purl.bioontology.org/ontology/MESH/D009958 http://purl.bioontology.org/ontology/MESH/D058165 http://purl.bioontology.org/ontology/MESH/D056733 http://purl.bioontology.org/ontology/MESH/D058497 http://purl.bioontology.org/ontology/MESH/D059446 http://purl.bioontology.org/ontology/MESH/D044542 http://purl.bioontology.org/ontology/MESH/D000072661 http://purl.bioontology.org/ontology/MESH/D004476 http://purl.bioontology.org/ontology/MESH/D056846 http://purl.bioontology.org/ontology/MESH/D004314 http://purl.bioontology.org/ontology/MESH/D058495 http://purl.bioontology.org/ontology/MESH/D019082 http://purl.bioontology.org/ontology/MESH/D016738 http://purl.bioontology.org/ontology/MESH/D019767 http://purl.bioontology.org/ontology/MESH/D017204 http://purl.bioontology.org/ontology/MESH/D009261 http://purl.bioontology.org/ontology/MESH/D016715 http://purl.bioontology.org/ontology/MESH/D009634 http://purl.bioontology.org/ontology/MESH/D009800 http://purl.bioontology.org/ontology/MESH/D054868 http://purl.bioontology.org/ontology/MESH/D019280 http://purl.bioontology.org/ontology/MESH/D056685 http://purl.bioontology.org/ontology/MESH/D007849 http://purl.bioontology.org/ontology/MESH/D012779 http://purl.bioontology.org/ontology/MESH/D056770 http://purl.bioontology.org/ontology/MESH/D056731 http://purl.bioontology.org/ontology/MESH/D054975 http://purl.bioontology.org/ontology/MESH/D059041 http://purl.bioontology.org/ontology/MESH/D020331 http://purl.bioontology.org/ontology/MESH/D056730 http://purl.bioontology.org/ontology/MESH/D058747 http://purl.bioontology.org/ontology/MESH/D015211 http://purl.bioontology.org/ontology/MESH/D058502 http://purl.bioontology.org/ontology/MESH/D003398 http://purl.bioontology.org/ontology/MESH/D058496 http://purl.bioontology.org/ontology/MESH/D007690 http://purl.bioontology.org/ontology/MESH/D058540 http://purl.bioontology.org/ontology/MESH/D003057 http://purl.bioontology.org/ontology/MESH/D008831 http://purl.bioontology.org/ontology/MESH/D056830 http://purl.bioontology.org/ontology/MESH/D000073842 http://purl.bioontology.org/ontology/MESH/D001506 http://purl.bioontology.org/ontology/MESH/D001478 http://purl.bioontology.org/ontology/MESH/D002973 http://purl.bioontology.org/ontology/MESH/D005736 http://purl.bioontology.org/ontology/MESH/D017624 http://purl.bioontology.org/ontology/MESH/D007184 http://purl.bioontology.org/ontology/MESH/D025064 http://purl.bioontology.org/ontology/MESH/D014849 http://purl.bioontology.org/ontology/MESH/D054062 http://purl.bioontology.org/ontology/MESH/D003635 http://purl.bioontology.org/ontology/MESH/D054463 http://purl.bioontology.org/ontology/MESH/D011218 http://purl.bioontology.org/ontology/MESH/D055947 http://purl.bioontology.org/ontology/MESH/D054877 http://purl.bioontology.org/ontology/MESH/D058627 http://purl.bioontology.org/ontology/MESH/D011535 http://purl.bioontology.org/ontology/MESH/D056734 http://purl.bioontology.org/ontology/MESH/D003394 http://purl.bioontology.org/ontology/MESH/D054000 http://purl.bioontology.org/ontology/MESH/D012410 http://purl.bioontology.org/ontology/MESH/D003410 http://purl.bioontology.org/ontology/MESH/D012415 http://purl.bioontology.org/ontology/MESH/D055673 http://purl.bioontology.org/ontology/MESH/D008382
Machine permutation	91
Mapped from	http://purl.bioontology.org/ontology/MESH/C563660 http://purl.bioontology.org/ontology/MESH/C537554 http://purl.bioontology.org/ontology/MESH/C566464 http://purl.bioontology.org/ontology/MESH/C566655 http://purl.bioontology.org/ontology/MESH/C564484 http://purl.bioontology.org/ontology/MESH/C565274 http://purl.bioontology.org/ontology/MESH/C564181 http://purl.bioontology.org/ontology/MESH/C563723 http://purl.bioontology.org/ontology/MESH/C580335 http://purl.bioontology.org/ontology/MESH/C563579 http://purl.bioontology.org/ontology/MESH/C537684 http://purl.bioontology.org/ontology/MESH/C537549 http://purl.bioontology.org/ontology/MESH/C567278 http://purl.bioontology.org/ontology/MESH/C563659 http://purl.bioontology.org/ontology/MESH/C564180 http://purl.bioontology.org/ontology/MESH/C538328 http://purl.bioontology.org/ontology/MESH/C537996 http://purl.bioontology.org/ontology/MESH/C564409 http://purl.bioontology.org/ontology/MESH/C562573 http://purl.bioontology.org/ontology/MESH/C535829
MDA	19900424
MMR	20140610
MN	C10.500.034.875 C16.131.077.410 C16.131.666.034.875 C16.131.260.380 C05.660.207.410 C16.131.621.207.410 C16.320.180.380
notation	D016142
prefLabel	Holoprosencephaly
TERMUI	T371772 T371770 T047950 T811963 T371771 T047951
TH	NLM (1991) NLM (2000) ORD (2010) OMIM (2013)
tui	T019
subClassOf	http://purl.bioontology.org/ontology/MESH/D019465 http://purl.bioontology.org/ontology/MESH/D025063 http://purl.bioontology.org/ontology/MESH/D000015 http://purl.bioontology.org/ontology/MESH/D061085

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/236100	Online Mendelian Inheritance in Man	CUI
http://purl.bioontology.org/ontology/OMIM/236100	Online Mendelian Inheritance in Man	CUI
http://purl.bioontology.org/ontology/OMIM/236100	Online Mendelian Inheritance in Man	CUI
http://purl.bioontology.org/ontology/ICD10/Q04.2	International Classification of Diseases, Version 10	CUI
http://purl.bioontology.org/ontology/ICD10/Q04.2	International Classification of Diseases, Version 10	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU008170	Online Mendelian Inheritance in Man	CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74988	National Cancer Institute Thesaurus	LOOM
http://purl.bmicc.cn/ontology/ICD10CN/Q04.2	International Classification of Diseases, 10th Edition, China	CUI
http://purl.bioontology.org/ontology/ICD10CM/Q04.2	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.bioontology.org/ontology/ICD10CM/Q04.2	International Classification of Diseases, Version 10 - Clinical Modification	LOOM
http://purl.bioontology.org/ontology/ICD10/Q04.1	International Classification of Diseases, Version 10	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU012372	Online Mendelian Inheritance in Man	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU026541	Online Mendelian Inheritance in Man	CUI
http://purl.bioontology.org/ontology/ICD10CM/Q04.1	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.bmicc.cn/ontology/ICD11CN/LA05.2	International Classification of Diseases, 11th Edition, China	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU018450	Online Mendelian Inheritance in Man	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU012943	Online Mendelian Inheritance in Man	CUI
http://purl.bmicc.cn/ontology/ICD10CN/Q04.1	International Classification of Diseases, 10th Edition, China	CUI
http://purl.obolibrary.org/obo/DOID_4621	Human Disease Ontology 123	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU000059	Online Mendelian Inheritance in Man	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU000059	Online Mendelian Inheritance in Man	LOOM