Human Disease Ontology

Last uploaded: May 1, 2024
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Preferred Name

Wolf-Hirschhorn syndrome
Synonyms

chromosome 4p16.3 deletion syndrome
Definitions

OMIM mapping confirmed by DO. [LS].
ID

http://purl.obolibrary.org/obo/DOID_0050460
comment

OMIM mapping confirmed by DO. [LS].
database_cross_reference

UMLS_CUI:C1956097

UMLS_CUI:C0796117

OMIM:194190

SNOMEDCT_US_2023_03_01:17122004

MESH:D054877

ICD10CM:Q93.3

GARD:7896

NCI:C35528

ORDO:280
definition

A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a hemizygous deletion of chromosome 4p16.3.
has exact synonym

chromosome 4p16.3 deletion syndrome

4p deletion syndrome

Pitt-Rogers-Danks Syndrome

PITT SYNDROME
has_alternative_id

DOID:6684
has_obo_namespace

disease_ontology
id

DOID:0050460
in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim

http://purl.obolibrary.org/obo/doid#DO_FlyBase_slim
label

Wolf-Hirschhorn syndrome
notation

DOID:0050460
prefLabel

Wolf-Hirschhorn syndrome
subClassOf

http://purl.obolibrary.org/obo/DOID_0060388
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0050460 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050460 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050460 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050460 EPIO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050460 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0050460 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_0050460 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008684 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008684 EFO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050460 NATPRO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10050361 MEDDRA LOOM
http://purl.obolibrary.org/obo/NCIT_C35528 BERO LOOM
http://purl.obolibrary.org/obo/GSSO_006998 GSSO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.944 RH-MESH LOOM
http://purl.bioontology.org/ontology/OMIM/194190 OMIM LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/718226002 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/MESH/D054877 MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00040097 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.180.985 RH-MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_147 HRDO LOOM
http://purl.obolibrary.org/obo/DOID_0050460 CLO LOOM
http://purl.obolibrary.org/obo/DOID_0050460 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0050460 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050460 EPIO LOOM
http://purl.obolibrary.org/obo/DOID_0050460 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050460 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050460 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D054877 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C35528 NCIT LOOM
http://purl.obolibrary.org/obo/OMIT_0026071 OMIT LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Wolf-Hirschhorn_Syndrome ESSO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Wolf-Hirschhorn_Syndrome MEPO LOOM
http://www.orpha.net/ORDO/Orphanet_280 ORDO LOOM
http://purl.jp/bio/4/id/200906025850144540 IOBC LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#48924 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.260.985 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0008684 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008684 DOVES LOOM