Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	HOLOPROSENCEPHALY 7
Synonyms	HPE7
ID	http://purl.bioontology.org/ontology/OMIM/610828
altLabel	HPE7
cui	C1835820
Gene Locus	9q22.3
Gene Symbol	PTCH1 BCNS NBCCS HPE7
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU002153 http://purl.bioontology.org/ontology/OMIM/MTHU004110 http://purl.bioontology.org/ontology/OMIM/MTHU054630 http://purl.bioontology.org/ontology/OMIM/MTHU054636 http://purl.bioontology.org/ontology/OMIM/MTHU054634 http://purl.bioontology.org/ontology/OMIM/MTHU054632 http://purl.bioontology.org/ontology/OMIM/MTHU000259 http://purl.bioontology.org/ontology/OMIM/MTHU004501 http://purl.bioontology.org/ontology/OMIM/MTHU036343 http://purl.bioontology.org/ontology/OMIM/MTHU054633 http://purl.bioontology.org/ontology/OMIM/MTHU001112 http://purl.bioontology.org/ontology/OMIM/MTHU015653 http://purl.bioontology.org/ontology/OMIM/MTHU054635 http://purl.bioontology.org/ontology/OMIM/MTHU000511 http://purl.bioontology.org/ontology/OMIM/MTHU054631 http://purl.bioontology.org/ontology/OMIM/MTHU000242 http://purl.bioontology.org/ontology/OMIM/MTHU017686 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU002499 http://purl.bioontology.org/ontology/OMIM/MTHU000264
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	610828
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	HOLOPROSENCEPHALY 7
tui	T047

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C563660	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/C563660	Medical Subject Headings	LOOM
http://purl.obolibrary.org/obo/DOID_0110876	Human Disease Ontology 123	LOOM