EpilepsyOntology

Last uploaded: November 8, 2021
Preferred Name

Wolf-Hirschhorn syndrome

Synonyms

4p deletion syndrome

Pitt-Rogers-Danks Syndrome

chromosome 4p16.3 deletion syndrome

Wolf-Hirschhorn syndrome (del 4p)

PITT SYNDROME

Definitions

OMIM mapping confirmed by DO. [LS]. A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a microdeletion of the short arm of chromosome 4.

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

MESH:D054877

SNOMEDCT_US_2018_03_01:17122004

ICD10CM:Q93.3

GARD:7896

NCI:C35528

ORDO:280

fromESSO

true

fromILAE

true

has exact synonym

4p deletion syndrome

Pitt-Rogers-Danks Syndrome

chromosome 4p16.3 deletion syndrome

Wolf-Hirschhorn syndrome (del 4p)

PITT SYNDROME

has_alternative_id

DOID:6684

has_obo_namespace

disease_ontology

hasDefinition

Wolf-Hirschhorn syndrome results from the partial deletion of the short arm of chromosome 4. The abnormality results in developmental delay, intellectual impairment (severe), hypotonia and epilepsy, and a number of dysmorphic features (microcephaly, micrognathia, short philtrum, epicanthic folds, high forehead, prominent glabella, ocular hypertelorism, dysplastic ears and peri-auricular tags). The nose may have a 'Greek helmet' appearance. There may also be congenital heart defects, hypospadias, colobomata of the iris, renal anomalies, cleft lip and/or palate and deafness. Immune disorders including common variable immunodeficiency and IgA deficiency may occur. Neuroimaging may show abnormalities of the corpus callosum or cerebellum, or other abnormality. Most cases are sporadic, with 10% inherited from a parent with a translocation. Seizures occur in the majority (>90%), typically starting in the first three years of life, with generalized tonic-clonic or hemiclonic seizures facilitated by fever (resulting in seizure clusters or status epilepticus) seen at that time. Epileptic spasms, atypical absences and focal seizures may also occur. EEG patterns of two types are recognized - diffuse, atypical slow sharp/spike-and-wave complexes in long bursts activated by slow wave sleep or high amplitude fast spike/polyspike-and-wave with posterior emphasis, triggered by eye closure. Seizures are usually well-controlled with monotherapy and improve with age. Routine karyotype assessment may not allow diagnosis of this syndrome, FISH analysis with sub-telomeric region-specific probes or CGH microarray are usually necessary.

id

DOID:0050460

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_FlyBase_slim

label

Wolf-Hirschhorn syndrome

notation

DOID:0050460

prefLabel

Wolf-Hirschhorn syndrome

文本定义

A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a microdeletion of the short arm of chromosome 4.

subClassOf

http://purl.obolibrary.org/obo/MONDO_0019040

Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0050460 DOID SAME_URI
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 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://purl.obolibrary.org/obo/DOID_0050460 DOID 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 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 DOVES LOOM