BioAssay Ontology

Last uploaded: February 21, 2024
Preferred Name

holoprosencephaly

Synonyms

Holoprosencephaly sequence

Definitions

Xref MGI. OMIM mapping confirmed by DO. [SN]. A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies.

ID

http://purl.obolibrary.org/obo/DOID_4621

comment

Xref MGI. OMIM mapping confirmed by DO. [SN].

database_cross_reference

MESH:D016142

ICD10CM:Q04.2

SNOMEDCT_US_2020_03_01:30915001

UMLS_CUI:C0079541

OMIM:PS236100

GARD:6665

NCI:C74988

ORDO:2162

has exact synonym

Holoprosencephaly sequence

has_obo_namespace

disease_ontology

id

DOID:4621

imported from

http://purl.obolibrary.org/obo/doid.owl

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus

http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_rare_slim

label

holoprosencephaly

notation

DOID:4621

prefLabel

holoprosencephaly

textual definition

A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies.

subClassOf

http://purl.obolibrary.org/obo/DOID_2490

http://purl.obolibrary.org/obo/DOID_225

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_4621 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_4621 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_4621 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_4621 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_4621 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_4621 FNS-H SAME_URI
http://purl.obolibrary.org/obo/DOID_4621 DOID LOOM
http://purl.obolibrary.org/obo/MP_0005157 MP LOOM
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 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 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.obolibrary.org/obo/NCIT_C74988 BERO LOOM
http://purl.bioontology.org/ontology/LNC/LA19658-6 LOINC LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_4621 NATPRO LOOM

The BioAssay Ontology integrates with OntoloBridge, allowing community users to suggest additions to the public ontology. Complete the template below to submit a term request directly to the ontology maintainer.

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Suggested term name. If a term can be described with multiple synonyms, only list the preferred name here.
Example: tissue-based format

Term description (required)
A brief definition, description, or usage of your suggested term. Additional term synonyms may be listed in this section.
Example: Involves the use of a tissue derived from a living organism and is a heterogeneous assay type.

Superclass (required)
The parent term of the suggested term. The parent term should be an existing entry of the current ontology. The superclass can be selected directly from the 'Classes' viewer on Bioportal's left tree navigation.
Example: assay format

References (optional)
Provide evidence for the existence of the requested term such as PMIDs of papers or links to other resources that describe the term.

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Provide any additional information about the requested term here.

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