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Orphanet Rare Disease Ontology
Last uploaded: December 4, 2024
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Id
http://www.orpha.net/ORDO/Orphanet_2691
http://www.orpha.net/ORDO/Orphanet_2691
Preferred Name
Nevo syndrome
Synonyms
Cerebral gigantism, Nevo type
Type
http://www.w3.org/2002/07/owl#Class
All Properties
label
Nevo syndrome
prefLabel
Nevo syndrome
hasDbXref
UMLS:C2936777
MeSH:C536113
notation
ORPHA:2691
alternative_term
Cerebral gigantism, Nevo type
reason_for_obsolescence
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
prefixIRI
ORDO:Orphanet_2691
subClassOf
http://www.orpha.net/ORDO/Orphanet_C044
type
http://www.w3.org/2002/07/owl#Class
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