Orphanet Rare Disease Ontology

Last uploaded: December 4, 2024

Id	http://www.orpha.net/ORDO/Orphanet_763 http://www.orpha.net/ORDO/Orphanet_763
Preferred Name	Pycnodysostosis
Definitions	Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.
Synonyms	Pyknodysostosis
Type	http://www.w3.org/2002/07/owl#Class

definition_citation	Orphanet
definition	Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.
label	Pycnodysostosis
prefLabel	Pycnodysostosis
hasDbXref	ICD-10:Q78.8 MeSH:D058631 ICD-11:5C56.Y UMLS:C0238402 OMIM:265800 MedDRA:10082973 See more See less
notation	ORPHA:763
alternative_term	Pyknodysostosis
present_in	Worldwide AND has_point_prevalence_average_value : 0.13 AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000
part_of	http://www.orpha.net/ORDO/Orphanet_139393 http://www.orpha.net/ORDO/Orphanet_2781 http://www.orpha.net/ORDO/Orphanet_68366
prefixIRI	ORDO:Orphanet_763
expertlink	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=763
subClassOf	http://www.orpha.net/ORDO/Orphanet_377788 http://www.orpha.net/ORDO/Orphanet_557493
type	http://www.w3.org/2002/07/owl#Class
has_inheritance	Autosomal recessive
has_age_of_onset	Adolescent Adult Childhood Infancy
treeView	http://www.orpha.net/ORDO/Orphanet_139393 http://www.orpha.net/ORDO/Orphanet_2781 http://www.orpha.net/ORDO/Orphanet_68366

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