Experimental Factor Ontology

Last uploaded: October 15, 2024

Preferred Name	obsolete_Nijmegen breakage syndrome
Synonyms	Ataxia-telangiectasia, variant 1 Seemanova syndrome type 2 Immunodeficiency - microcephaly - chromosomal instability Microcephaly - immunodeficiency - lymphoreticuloma Berlin breakage syndrome AT V1 NBS
Definitions	Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.
ID	http://www.orpha.net/ORDO/Orphanet_647
Obsolete	true
database_cross_reference	MedDRA:10067857 MeSH:D049932 OMIM:251260 UMLS:C0398791 UMLS:C2930831 MeSH:C531759
definition	Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.
definition_citation	orphanet
deprecated	true
has_exact_synonym	Ataxia-telangiectasia, variant 1 Seemanova syndrome type 2 Immunodeficiency - microcephaly - chromosomal instability Microcephaly - immunodeficiency - lymphoreticuloma Berlin breakage syndrome AT V1 NBS
label	obsolete_Nijmegen breakage syndrome
obsoleted_in_version	3.41.0
preferred label	obsolete_Nijmegen breakage syndrome
prefLabel	obsolete_Nijmegen breakage syndrome
reason_for_obsolescence	Replaced with Mondo term.
term replaced by	http://purl.obolibrary.org/obo/MONDO_0009623
subClassOf	http://www.w3.org/2002/07/owl#Thing

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Mapping To	Ontology	Source
http://www.orpha.net/ORDO/Orphanet_647	CCONT	SAME_URI
http://www.orpha.net/ORDO/Orphanet_647	ORDO	SAME_URI
http://www.orpha.net/ORDO/Orphanet_647	CCONT	LOOM