Medical Subject Headings

Last uploaded: January 31, 2024

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Preferred Name	Holoprosencephaly
Synonyms	Semilobar Holoprosencephaly
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	Semilobar Holoprosencephaly Holoprosencephaly, Lobar Lobar Holoprosencephalies Lobar Holoprosencephaly Holoprosencephalies, Lobar Holoprosencephaly, Familial Alobar Holoprosencephaly, Semilobar Alobar Holoprosencephalies Semilobar Holoprosencephalies Holoprosencephaly, Alobar Arhinencephaly Holoprosencephalies, Alobar Alobar Holoprosencephaly Holoprosencephalies, Semilobar Holoprosencephalies Arhinencephalies
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 C0431363 C0751617 C0079541 C0431362
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/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	91
Mapped from	http://purl.bioontology.org/ontology/MESH/C563579 http://purl.bioontology.org/ontology/MESH/C580335 http://purl.bioontology.org/ontology/MESH/C566655 http://purl.bioontology.org/ontology/MESH/C564484 http://purl.bioontology.org/ontology/MESH/C535829 http://purl.bioontology.org/ontology/MESH/C537996 http://purl.bioontology.org/ontology/MESH/C537684 http://purl.bioontology.org/ontology/MESH/C537549 http://purl.bioontology.org/ontology/MESH/C563723 http://purl.bioontology.org/ontology/MESH/C538328 http://purl.bioontology.org/ontology/MESH/C567278 http://purl.bioontology.org/ontology/MESH/C563660 http://purl.bioontology.org/ontology/MESH/C564409 http://purl.bioontology.org/ontology/MESH/C562573 http://purl.bioontology.org/ontology/MESH/C537554 http://purl.bioontology.org/ontology/MESH/C564181 http://purl.bioontology.org/ontology/MESH/C564180 http://purl.bioontology.org/ontology/MESH/C563659 http://purl.bioontology.org/ontology/MESH/C566464 http://purl.bioontology.org/ontology/MESH/C565274
MDA	19900424
MMR	20140610
MN	C16.131.621.207.410 C10.500.034.875 C16.131.666.034.875 C16.131.077.410 C16.320.180.380 C16.131.260.380 C05.660.207.410
notation	D016142
prefLabel	Holoprosencephaly
TERMUI	T811963 T371770 T047951 T047950 T371771 T371772
TH	OMIM (2013) NLM (2000) NLM (1991) ORD (2010)
tui	T019
subClassOf	http://purl.bioontology.org/ontology/MESH/D019465 http://purl.bioontology.org/ontology/MESH/D000015 http://purl.bioontology.org/ontology/MESH/D061085 http://purl.bioontology.org/ontology/MESH/D025063

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/236100	OMIM	CUI
http://purl.bioontology.org/ontology/RCD/X77qt	RCD	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU008170	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/236100	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU012943	OMIM	CUI
http://purl.bioontology.org/ontology/MEDDRA/10087157	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRGER/10087157	MDRGER	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU012372	OMIM	CUI
http://purl.bioontology.org/ontology/RCD/P224.	RCD	CUI
http://purl.bioontology.org/ontology/SNMI/D4-01520	SNMI	CUI
http://purl.bioontology.org/ontology/ICD10/Q04.1	ICD10	CUI
http://purl.bioontology.org/ontology/MDRFRE/10087157	MDRFRE	CUI
http://purl.bioontology.org/ontology/MSHFRE/D016142	MSHFRE	CUI
http://purl.bioontology.org/ontology/ICD10CM/Q04.1	ICD10CM	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/253137003	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/253137003	SCTSPA	CUI
http://purl.bioontology.org/ontology/RCD/X77qs	RCD	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU068125	OMIM	CUI
http://purl.bioontology.org/ontology/MSHFRE/D016142	MSHFRE	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU018450	OMIM	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/253138008	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU068126	OMIM	CUI
http://purl.bioontology.org/ontology/SCTSPA/253138008	SCTSPA	CUI
http://purl.bioontology.org/ontology/MSHFRE/D016142	MSHFRE	CUI
http://purl.bioontology.org/ontology/OMIM/236100	OMIM	CUI
http://purl.bioontology.org/ontology/SCTSPA/30915001	SCTSPA	CUI
http://purl.bioontology.org/ontology/MDRGER/10056304	MDRGER	CUI
http://purl.bioontology.org/ontology/ICD10/Q04.2	ICD10	CUI
http://purl.bioontology.org/ontology/ICD10CM/Q04.2	ICD10CM	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003376	NDFRT	CUI
http://purl.bioontology.org/ontology/MDRFRE/10056304	MDRFRE	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU026541	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU000059	OMIM	CUI
http://purl.bioontology.org/ontology/MEDDRA/10056304	MEDDRA	CUI
http://purl.bioontology.org/ontology/RCD/P225.	RCD	CUI
http://purl.bioontology.org/ontology/CSP/0723-2277	CRISP	CUI
http://purl.bioontology.org/ontology/SNMI/D4-01520	SNMI	CUI
http://purl.bioontology.org/ontology/MSHFRE/D016142	MSHFRE	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/30915001	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/LNC/LA19658-6	LOINC	CUI
http://purl.bioontology.org/ontology/RCD/X77qr	RCD	CUI
http://purl.bioontology.org/ontology/SCTSPA/253136007	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/253136007	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MSHFRE/D016142	MSHFRE	CUI
http://purl.obolibrary.org/obo/MONDO_0016296	EFO	LOOM
http://purl.obolibrary.org/obo/DOID_4621	DOID	LOOM
http://purl.obolibrary.org/obo/MONDO_0016296	MONDO	LOOM
http://purl.obolibrary.org/obo/HP_0001360	HP	LOOM
http://purl.obolibrary.org/obo/MP_0005157	MP	LOOM
http://purl.obolibrary.org/obo/OMIT_0016698	OMIT	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74988	NCIT	LOOM
http://purl.bioontology.org/ontology/ICD10/Q04.2	ICD10	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.500.034.875	RH-MESH	LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q04.2	NLMVS	LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q04.2	ICD10CM	LOOM
http://purl.jp/bio/4/id/200906079467141955	IOBC	LOOM
http://www.gamuts.net/entity#holoprosencephaly	GAMUTS	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D016142	RH-MESH	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#15186	OCHV	LOOM
http://purl.obolibrary.org/obo/DOID_4621	CLO	LOOM
http://purl.obolibrary.org/obo/DOID_4621	DTO	LOOM
http://purl.obolibrary.org/obo/DOID_4621	BAO	LOOM
http://purl.obolibrary.org/obo/DOID_4621	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_4621	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_4621	FNS-H	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU000059	OMIM	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Holoprosencephaly	CSEO	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0079541	OCHV	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.260.380	RH-MESH	LOOM
http://purl.obolibrary.org/obo/MONDO_0016296	DOVES	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10056304	MEDDRA	LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:1756	IFAR	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_301	HRDO	LOOM
http://www.orpha.net/ORDO/Orphanet_2162	ORDO	LOOM
http://purl.bioontology.org/ontology/RCD/P225.	RCD	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.410	RH-MESH	LOOM
http://purl.bioontology.org/ontology/RCTV2/P225.00	RCTV2	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.621.207.410	RH-MESH	LOOM
http://purl.obolibrary.org/obo/HP_0001360	UPHENO	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00085538	PMAPP-PMO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.666.410	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.660.207.410	RH-MESH	LOOM
http://purl.obolibrary.org/obo/MP_0005157	UPHENO	LOOM
http://purl.obolibrary.org/obo/MP_0005157	CHIRO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.666.034.875	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.180.380	RH-MESH	LOOM
http://purl.org/obo/owl/HP#HP_0001360	BDO	LOOM
http://purl.obolibrary.org/obo/NCIT_C74988	BERO	LOOM
http://purl.bioontology.org/ontology/LNC/LA19658-6	LOINC	LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_4621	NATPRO	LOOM