Online Mendelian Inheritance in Man - HOLOPROSENCEPHALY 1 - Classes

Preferred Name	HOLOPROSENCEPHALY 1
Synonyms	ARHINENCEPHALY
ID	http://purl.bioontology.org/ontology/OMIM/236100
altLabel	ARHINENCEPHALY DEMYER SEQUENCE HPEC HOLOPROSENCEPHALY, FAMILIAL ALOBAR HPE1 HPE, FAMILIAL CYCLOPIA
cui	C0266667 C0078982 C0431363 C0079541
Gene Locus	21q22.3
Gene Symbol	HPE1
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000061 http://purl.bioontology.org/ontology/OMIM/MTHU025004 http://purl.bioontology.org/ontology/OMIM/MTHU026548 http://purl.bioontology.org/ontology/OMIM/MTHU026540 http://purl.bioontology.org/ontology/OMIM/MTHU026546 http://purl.bioontology.org/ontology/OMIM/MTHU026544 http://purl.bioontology.org/ontology/OMIM/MTHU028089 http://purl.bioontology.org/ontology/OMIM/MTHU000259 http://purl.bioontology.org/ontology/OMIM/MTHU026554 http://purl.bioontology.org/ontology/OMIM/MTHU026552 http://purl.bioontology.org/ontology/OMIM/MTHU026550 http://purl.bioontology.org/ontology/OMIM/MTHU000269 http://purl.bioontology.org/ontology/OMIM/MTHU013463 http://purl.bioontology.org/ontology/OMIM/MTHU000759 http://purl.bioontology.org/ontology/OMIM/MTHU001096 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU048955 http://purl.bioontology.org/ontology/OMIM/MTHU048953 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU001112 http://purl.bioontology.org/ontology/OMIM/MTHU026539 http://purl.bioontology.org/ontology/OMIM/MTHU026547 http://purl.bioontology.org/ontology/OMIM/MTHU026541 http://purl.bioontology.org/ontology/OMIM/MTHU026557 http://purl.bioontology.org/ontology/OMIM/MTHU026545 http://purl.bioontology.org/ontology/OMIM/MTHU000242 http://purl.bioontology.org/ontology/OMIM/MTHU026543 http://purl.bioontology.org/ontology/OMIM/MTHU026549 http://purl.bioontology.org/ontology/OMIM/MTHU026551 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU026555 http://purl.bioontology.org/ontology/OMIM/MTHU026553 http://purl.bioontology.org/ontology/OMIM/MTHU008543 http://purl.bioontology.org/ontology/OMIM/MTHU036342 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU048954 http://purl.bioontology.org/ontology/OMIM/MTHU013824
MIMTYPEMEANING	Mendelian phenotype or locus, molecular basis unknown.
notation	236100
OMIM Entry Type	5
OMIM MimType Value	perc
prefLabel	HOLOPROSENCEPHALY 1
tui	T019

Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0110881	Human Disease Ontology 123	LOOM
http://purl.bioontology.org/ontology/ICD10/Q04.2	International Classification of Diseases, Version 10	CUI
http://purl.bmicc.cn/ontology/ICD10CN/Q04.2	International Classification of Diseases, 10th Edition, China	CUI
http://purl.bioontology.org/ontology/ICD10CM/Q04.2	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.bioontology.org/ontology/ICD10/Q04.1	International Classification of Diseases, Version 10	CUI
http://purl.bioontology.org/ontology/ICD10CM/Q87.0	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.bioontology.org/ontology/ICD10CM/Q04.1	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.bioontology.org/ontology/MESH/C562573	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/D016142	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/D016142	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/D016142	Medical Subject Headings	CUI
http://purl.bmicc.cn/ontology/ICD10CN/Q04.1	International Classification of Diseases, 10th Edition, China	CUI