Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

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Preferred Name	HOLOPROSENCEPHALY 1
Synonyms	HPE, FAMILIAL
ID	http://purl.bioontology.org/ontology/OMIM/236100
altLabel	HPE, FAMILIAL HPE1 HOLOPROSENCEPHALY, FAMILIAL ALOBAR CYCLOPIA DEMYER SEQUENCE HPEC ARHINENCEPHALY
cui	C0078982 C0431363 C0266667 C0079541
Gene Locus	21q22.3
Gene Symbol	HPE1
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000269 http://purl.bioontology.org/ontology/OMIM/MTHU048953 http://purl.bioontology.org/ontology/OMIM/MTHU025004 http://purl.bioontology.org/ontology/OMIM/MTHU048955 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/MTHU026546 http://purl.bioontology.org/ontology/OMIM/MTHU008543 http://purl.bioontology.org/ontology/OMIM/MTHU026543 http://purl.bioontology.org/ontology/OMIM/MTHU048954 http://purl.bioontology.org/ontology/OMIM/MTHU028089 http://purl.bioontology.org/ontology/OMIM/MTHU026555 http://purl.bioontology.org/ontology/OMIM/MTHU000145 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	Mendelian phenotype or locus, molecular basis unknown.
notation	236100
OMIM Entry Type	5
OMIM MimType Value	perc
prefLabel	HOLOPROSENCEPHALY 1
Scope Statement	Spectrum of malformations resulting from impaired midline cleavage of the embryonic forebrain [MISCELLANEOUS] Genetic heterogeneity [MISCELLANEOUS] Variable severity [MISCELLANEOUS] Incomplete penetrance [MISCELLANEOUS]
tui	T019

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/D016142	MESH	CUI
http://purl.bioontology.org/ontology/SNMI/D4-F1120	SNMI	CUI
http://purl.bioontology.org/ontology/MESH/D016142	MESH	CUI
http://purl.bioontology.org/ontology/MEDDRA/10087157	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRGER/10087157	MDRGER	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/MSHFRE/D016142	MSHFRE	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/205798005	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MDRFRE/10057648	MDRFRE	CUI
http://purl.bioontology.org/ontology/SCTSPA/205798005	SCTSPA	CUI
http://purl.bioontology.org/ontology/MESH/C562573	MESH	CUI
http://purl.bioontology.org/ontology/MDRGER/10057648	MDRGER	CUI
http://purl.bioontology.org/ontology/ICD10CM/Q87.0	ICD10CM	CUI
http://purl.bioontology.org/ontology/MEDDRA/10057648	MEDDRA	CUI
http://purl.bioontology.org/ontology/MESH/D016142	MESH	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/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.obolibrary.org/obo/DOID_0110881	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0110881	DOID	LOOM
http://purl.obolibrary.org/obo/MONDO_0009349	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009349	DOVES	LOOM
http://purl.obolibrary.org/obo/DOID_0110881	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0110881	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0110881	FNS-H	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C565514	RH-MESH	LOOM