Experimental Factor Ontology

Last uploaded: June 18, 2024

Preferred Name	obsolete_Rubinstein-Taybi syndrome
Synonyms	Broad thumb-hallux syndrome Broad thumbs-halluces syndrome
Definitions	Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics.
ID	http://www.orpha.net/ORDO/Orphanet_783
Obsolete	true
database_cross_reference	OMIM:610543 ICD10:Q87.2 OMIM:180849 OMIM:613684 MeSH:D012415 MedDRA:10039281 UMLS:C0035934
definition	Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics.
definition_citation	orphanet
deprecated	true
has_exact_synonym	Broad thumbs-halluces syndrome Broad thumb-hallux syndrome
label	obsolete_Rubinstein-Taybi syndrome
obsoleted_in_version	3.41.0
prefLabel	obsolete_Rubinstein-Taybi syndrome
reason_for_obsolescence	Replaced with Mondo term.
term replaced by	http://purl.obolibrary.org/obo/MONDO_0019188
subClassOf	http://www.w3.org/2002/07/owl#Thing

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Delete	Mapping To	Ontology	Source
	http://www.orpha.net/ORDO/Orphanet_783	ORDO	SAME_URI