Online Mendelian Inheritance in Man - HOLOPROSENCEPHALY 2 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

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Preferred Name	HOLOPROSENCEPHALY 2
Synonyms	HPE2
ID	http://purl.bioontology.org/ontology/OMIM/157170
altLabel	HPE2
cui	C1834877
Gene Locus	2p21
Gene Symbol	HPE2 SIX3
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000269 http://purl.bioontology.org/ontology/OMIM/MTHU025004 http://purl.bioontology.org/ontology/OMIM/MTHU026547 http://purl.bioontology.org/ontology/OMIM/MTHU000061 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU026541 http://purl.bioontology.org/ontology/OMIM/MTHU026548 http://purl.bioontology.org/ontology/OMIM/MTHU000259 http://purl.bioontology.org/ontology/OMIM/MTHU013824 http://purl.bioontology.org/ontology/OMIM/MTHU026550 http://purl.bioontology.org/ontology/OMIM/MTHU036342 http://purl.bioontology.org/ontology/OMIM/MTHU026539 http://purl.bioontology.org/ontology/OMIM/MTHU026544 http://purl.bioontology.org/ontology/OMIM/MTHU026549 http://purl.bioontology.org/ontology/OMIM/MTHU026554 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU013463 http://purl.bioontology.org/ontology/OMIM/MTHU026551 http://purl.bioontology.org/ontology/OMIM/MTHU026542 http://purl.bioontology.org/ontology/OMIM/MTHU026546 http://purl.bioontology.org/ontology/OMIM/MTHU008543 http://purl.bioontology.org/ontology/OMIM/MTHU026543 http://purl.bioontology.org/ontology/OMIM/MTHU026555 http://purl.bioontology.org/ontology/OMIM/MTHU026552 http://purl.bioontology.org/ontology/OMIM/MTHU026540 http://purl.bioontology.org/ontology/OMIM/MTHU026553 http://purl.bioontology.org/ontology/OMIM/MTHU000242 http://purl.bioontology.org/ontology/OMIM/MTHU026545
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	157170
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	HOLOPROSENCEPHALY 2
Scope Statement	Caused by mutation in the SIX homeobox 3 gene (SIX3, 603714.0001) [MOLECULAR BASIS] Spectrum of malformations resulting from impaired midline cleavage of the embryonic forebrain [MISCELLANEOUS] Genetic heterogeneity [MISCELLANEOUS] Variable severity [MISCELLANEOUS] Incomplete penetrance [MISCELLANEOUS]
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C563579	MESH	CUI
	http://purl.obolibrary.org/obo/MONDO_0007999	MONDO	LOOM
	http://purl.obolibrary.org/obo/DOID_0110872	DOID	LOOM
	http://purl.obolibrary.org/obo/DOID_0110872	DOID	LOOM
	http://purl.obolibrary.org/obo/DOID_0110872	HHEAR	LOOM
	http://purl.obolibrary.org/obo/DOID_0110872	NIFSTD	LOOM
	http://purl.obolibrary.org/obo/DOID_0110872	FNS-H	LOOM
	http://purl.bioontology.org/ontology/MESH/C563579	MESH	LOOM
	http://purl.obolibrary.org/obo/MONDO_0007999	DOVES	LOOM
	http://phenomebrowser.net/ontologies/mesh/mesh.owl#C563579	RH-MESH	LOOM
	http://identifiers.org/omim/157170	REXO	LOOM
	http://identifiers.org/omim/157170	GEXO	LOOM
	http://identifiers.org/omim/157170	RETO	LOOM
	http://purl.obolibrary.org/obo/OMIM_157170	CCO	LOOM