BioAssay Ontology

Last uploaded: February 21, 2024
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Preferred Name

ichthyosis vulgaris
Synonyms

Dominant congenital ichthyosiform erythroderma
Definitions

An ichthyosis that has_material_basis_in heterozygous mutation in the filaggrin gene on chromosome 1q21 and is characterized by dead skin cells accumulate in thick, dry scales on your skin's surface. OMIM mapping confirmed by DO. [SN].
ID

http://purl.obolibrary.org/obo/DOID_1702
comment

OMIM mapping confirmed by DO. [SN].
database_cross_reference

ICD10CM:Q80.0

SNOMEDCT_US_2020_03_01:205551004

MESH:D016112

UMLS_CUI:C0079584

OMIM:146700

GARD:6752

NCI:C84778
has exact synonym

Dominant congenital ichthyosiform erythroderma
has_obo_namespace

disease_ontology
id

DOID:1702
imported from

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

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

ichthyosis vulgaris
notation

DOID:1702
prefLabel

ichthyosis vulgaris
textual definition

An ichthyosis that has_material_basis_in heterozygous mutation in the filaggrin gene on chromosome 1q21 and is characterized by dead skin cells accumulate in thick, dry scales on your skin's surface.
subClassOf

http://purl.obolibrary.org/obo/DOID_1697

http://purl.obolibrary.org/obo/DOID_0050736
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_1702 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_1702 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_1702 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_1702 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_1702 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_1702 FNS-H SAME_URI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.831.512.410 RH-MESH LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15393 DERMLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.850.405 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.428.333.410 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/254157005 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/DOID_1702 DTO LOOM
http://purl.obolibrary.org/obo/DOID_1702 DOID LOOM
http://purl.obolibrary.org/obo/DOID_1702 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_1702 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_1702 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_1702 FNS-H LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q80.0 NLMVS LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q80.0 ICD10CM LOOM
http://purl.obolibrary.org/obo/OMIT_0016676 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.804.512.410 RH-MESH LOOM
http://purl.jp/bio/4/id/200906005878027661 IOBC LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#15192 OCHV LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0079584 OCHV LOOM
http://purl.bioontology.org/ontology/RCTV2/PH14.00 RCTV2 LOOM
http://purl.obolibrary.org/obo/OMIM_146700 CCO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D016112 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Ichthyosis_Vulgaris CSEO LOOM
http://purl.bioontology.org/ontology/MESH/D016112 MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036754 PMAPP-PMO LOOM
http://vocab.vodan-totafrica.info/vodana-terms/vdiseases/EC20.00 VODANADISEASES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.827.405 RH-MESH LOOM
urn:agi-pathway:uuid-fa25ee7c-2edd-474f-bcd8-dce84a2818b2 BPT LOOM
http://purl.bioontology.org/ontology/OMIM/146700 OMIM LOOM
http://id.nlm.nih.gov/mesh/D016112 MDM LOOM
http://purl.bioontology.org/ontology/MEDDRA/10021204 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84778 NCIT LOOM
http://purl.obolibrary.org/obo/DERMO_0000010 DERMO LOOM
http://purl.bioontology.org/ontology/RCD/X78C8 RCD LOOM
http://identifiers.org/omim/146700 REXO LOOM
http://identifiers.org/omim/146700 GEXO LOOM
http://identifiers.org/omim/146700 RETO LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU067211 OMIM LOOM
http://purl.bioontology.org/ontology/ICD10/Q80.0 ICD10 LOOM
http://purl.obolibrary.org/obo/MONDO_0024304 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0024304 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0024304 DOVES LOOM
http://purl.obolibrary.org/obo/NCIT_C84778 BERO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_1702 NATPRO LOOM