Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024

Preferred Name	Dysostosis with brachydactyly
Synonyms
Definitions	Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis.
ID	http://www.orpha.net/ORDO/Orphanet_69028
definition	Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis.
definition_citation	Orphanet
expertlink	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=69028
has_age_of_onset	Infancy Neonatal
has_inheritance	Autosomal recessive X-linked recessive Autosomal dominant
hasDbXref	UMLS:C5681270
label	Dysostosis with brachydactyly
notation	ORPHA:69028 Category
prefixIRI	ORDO:Orphanet_69028
prefLabel	Dysostosis with brachydactyly
present_in	Worldwide AND has_point_prevalence_range : Unknown
subClassOf	http://www.orpha.net/ORDO/Orphanet_364568 http://www.orpha.net/ORDO/Orphanet_557492 http://www.orpha.net/ORDO/Orphanet_109009 http://www.orpha.net/ORDO/Orphanet_404577 http://www.orpha.net/ORDO/Orphanet_404571

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Delete	Mapping To	Ontology	Source
	http://www.orpha.net/ORDO/Orphanet_69028	EFO	SAME_URI