Online Mendelian Inheritance in Man - HOLOPROSENCEPHALY 3 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

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Preferred Name	HOLOPROSENCEPHALY 3
Synonyms	HPE3 HLP3
ID	http://purl.bioontology.org/ontology/OMIM/142945
altLabel	HPE3 HLP3
cui	C1840529
Gene Locus	7q36
Gene Symbol	HLP3 SHH MCOPCB5 HPE3 SMMCI
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU063295 http://purl.bioontology.org/ontology/OMIM/MTHU000511 http://purl.bioontology.org/ontology/OMIM/MTHU013654 http://purl.bioontology.org/ontology/OMIM/MTHU001174 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU037359 http://purl.bioontology.org/ontology/OMIM/MTHU002029 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU014657 http://purl.bioontology.org/ontology/OMIM/MTHU063290 http://purl.bioontology.org/ontology/OMIM/MTHU063291 http://purl.bioontology.org/ontology/OMIM/MTHU000259 http://purl.bioontology.org/ontology/OMIM/MTHU036343 http://purl.bioontology.org/ontology/OMIM/MTHU004501 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU005510 http://purl.bioontology.org/ontology/OMIM/MTHU067194 http://purl.bioontology.org/ontology/OMIM/MTHU063297 http://purl.bioontology.org/ontology/OMIM/MTHU004824 http://purl.bioontology.org/ontology/OMIM/MTHU001746
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	142945
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	HOLOPROSENCEPHALY 3
Scope Statement	Severe alobar form may result in death in infancy [MISCELLANEOUS] Variable features may be present [MISCELLANEOUS] Caused by mutation in the sonic hedgehog signaling molecule (SHH, 600725.0001) [MOLECULAR BASIS] Mild form may include microcephaly, hypotelorism, and single maxillary central incisor [MISCELLANEOUS]
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C564181	MESH	CUI
	http://purl.obolibrary.org/obo/DOID_0110875	DOID	LOOM
	http://purl.obolibrary.org/obo/DOID_0110875	DOID	LOOM
	http://purl.obolibrary.org/obo/DOID_0110875	HHEAR	LOOM
	http://purl.obolibrary.org/obo/DOID_0110875	DDSS	LOOM
	http://purl.obolibrary.org/obo/DOID_0110875	NIFSTD	LOOM
	http://purl.obolibrary.org/obo/DOID_0110875	FNS-H	LOOM
	http://purl.obolibrary.org/obo/MONDO_0007733	EFO	LOOM
	http://purl.obolibrary.org/obo/MONDO_0007733	MONDO	LOOM
	http://purl.obolibrary.org/obo/MONDO_0007733	DOVES	LOOM
	http://purl.obolibrary.org/obo/OMIM_142945	CCO	LOOM
	http://identifiers.org/omim/142945	REXO	LOOM
	http://identifiers.org/omim/142945	GEXO	LOOM
	http://identifiers.org/omim/142945	RETO	LOOM
	http://phenomebrowser.net/ontologies/mesh/mesh.owl#C564181	RH-MESH	LOOM
	http://purl.bioontology.org/ontology/MESH/C564181	MESH	LOOM