Biological and Environmental Research Ontology

Last uploaded: December 23, 2022
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Preferred Name

Holoprosencephaly
Synonyms
Definitions

A rare disorder characterized by the failure of the forebrain to divide into distinct hemispheres. It is associated with craniofacial abnormalities, developmental abnormalities, and seizures.
ID

http://purl.obolibrary.org/obo/NCIT_C74988
ALT_DEFINITION

Incomplete development of the forebrain that may be associated with midfacial anomalies and pituitary hormone deficiencies.
code

C74988
Contributing_Source

Cellosaurus

NICHD
definition

A rare disorder characterized by the failure of the forebrain to divide into distinct hemispheres. It is associated with craniofacial abnormalities, developmental abnormalities, and seizures.
in_subset

http://purl.obolibrary.org/obo/NCIT_C90259

http://purl.obolibrary.org/obo/NCIT_C118467

http://purl.obolibrary.org/obo/NCIT_C165258

http://purl.obolibrary.org/obo/NCIT_C99147
label

Holoprosencephaly
Legacy Concept Name

Holoprosencephaly
Preferred_Name

Holoprosencephaly
prefixIRI

NCIT:C74988
prefLabel

Holoprosencephaly
Semantic_Type

Disease or Syndrome
UMLS_CUI

C4011586
subClassOf

http://purl.obolibrary.org/obo/NCIT_C53543

http://purl.obolibrary.org/obo/NCIT_C28193
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http://purl.obolibrary.org/obo/MONDO_0016296 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0016296 EFO LOOM
http://purl.bioontology.org/ontology/MESH/D016142 MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0016698 OMIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74988 NCIT LOOM
http://purl.bioontology.org/ontology/ICD10/Q04.2 ICD10 LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.500.034.875 RH-MESH LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q04.2 NLMVS LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q04.2 ICD10CM LOOM
http://purl.jp/bio/4/id/200906079467141955 IOBC LOOM
http://www.gamuts.net/entity#holoprosencephaly GAMUTS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D016142 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#15186 OCHV LOOM
http://purl.obolibrary.org/obo/DOID_4621 CLO LOOM
http://purl.obolibrary.org/obo/DOID_4621 DTO LOOM
http://purl.obolibrary.org/obo/DOID_4621 DOID LOOM
http://purl.obolibrary.org/obo/DOID_4621 BAO LOOM
http://purl.obolibrary.org/obo/DOID_4621 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_4621 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_4621 FNS-H LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU000059 OMIM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Holoprosencephaly CSEO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0079541 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.260.380 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0016296 DOVES LOOM
http://purl.bioontology.org/ontology/MEDDRA/10056304 MEDDRA LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:1756 IFAR LOOM
http://www.limics.org/hrdo/rdfns#pat_id_301 HRDO LOOM
http://www.orpha.net/ORDO/Orphanet_2162 ORDO LOOM
http://purl.bioontology.org/ontology/RCD/P225. RCD LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.410 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCTV2/P225.00 RCTV2 LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.621.207.410 RH-MESH LOOM
http://purl.obolibrary.org/obo/HP_0001360 HP LOOM
http://purl.obolibrary.org/obo/HP_0001360 UPHENO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00085538 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.666.410 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.660.207.410 RH-MESH LOOM
http://nanbyodata.jp/ontology/NANDO_2200819 NANDO LOOM
http://purl.obolibrary.org/obo/MP_0005157 MP LOOM
http://purl.obolibrary.org/obo/MP_0005157 UPHENO LOOM
http://purl.obolibrary.org/obo/MP_0005157 CHIRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.666.034.875 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.180.380 RH-MESH LOOM
http://purl.org/obo/owl/HP#HP_0001360 BDO LOOM
http://purl.bioontology.org/ontology/LNC/LA19658-6 LOINC LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_4621 NATPRO LOOM