Experimental Factor Ontology

Last uploaded: June 18, 2024
Preferred Name

obsolete_Wolf-Hirschhorn syndrome

Synonyms

4p- syndrome

Distal deletion 4p

Telomeric deletion 4p

Distal monosomy 4p

Definitions

Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.

ID

http://www.orpha.net/ORDO/Orphanet_280

Obsolete

true

database_cross_reference

OMIM:194190

MedDRA:10050361

MeSH:C536740

ICD10:Q93.3

MeSH:D054877

UMLS:C1956097

definition

Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.

definition_citation

orphanet

deprecated

true

has_exact_synonym

Distal monosomy 4p

Telomeric deletion 4p

Distal deletion 4p

4p- syndrome

label

obsolete_Wolf-Hirschhorn syndrome

obsoleted_in_version

3.41.0

prefLabel

obsolete_Wolf-Hirschhorn syndrome

reason_for_obsolescence

Replaced with Mondo term.

term replaced by

http://purl.obolibrary.org/obo/MONDO_0008684

subClassOf

http://www.w3.org/2002/07/owl#Thing

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http://www.orpha.net/ORDO/Orphanet_280 ORDO SAME_URI