Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

ICHTHYOSIS VULGARIS
Synonyms

ICHTHYOSIS SIMPLEX
ID

http://purl.bioontology.org/ontology/OMIM/146700
altLabel

ICHTHYOSIS SIMPLEX
cui

C0079584
Gene Locus

1q21
Gene Symbol

FLG

ATOD2
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU067212

http://purl.bioontology.org/ontology/OMIM/MTHU067211
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

146700
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

ICHTHYOSIS VULGARIS
Scope Statement

Frequent asthma, eczema, or hay fever [MISCELLANEOUS]

Onset usually after 3 months age [MISCELLANEOUS]

Lesions rare in the axillae, antecubital or popliteal fossae [MISCELLANEOUS]

Caused by mutation in the filaggrin gene (FLG, 135940.0001) [MOLECULAR BASIS]

Palms and soles often show increased markings [MISCELLANEOUS]
tui

T047
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Mapping To Ontology Source
http://purl.bioontology.org/ontology/SNOMEDCT/254157005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/ICD10CM/Q80.0 ICD10CM CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003366 NDFRT CUI
http://purl.bioontology.org/ontology/MDRFRE/10021204 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/254157005 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/D016112 MESH CUI
http://purl.bioontology.org/ontology/MSHFRE/D016112 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10021204 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10021204 MEDDRA CUI
http://purl.bioontology.org/ontology/SNMI/D4-40111 SNMI CUI
http://purl.bioontology.org/ontology/RCD/X78C8 RCD CUI
http://purl.bioontology.org/ontology/ICD10/Q80.0 ICD10 CUI
http://purl.obolibrary.org/obo/MONDO_0024304 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_1702 DOID LOOM
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 BAO 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://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/ICD10/Q80.0 ICD10 LOOM
http://purl.obolibrary.org/obo/MONDO_0024304 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0024304 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0024304 EFO LOOM
http://purl.obolibrary.org/obo/NCIT_C84778 BERO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_1702 NATPRO LOOM