Mondo Disease Ontology

Last uploaded: February 4, 2025
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Id http://purl.obolibrary.org/obo/MONDO_0010217
http://purl.obolibrary.org/obo/MONDO_0010217
Preferred Name

de Sanctis-Cacchione syndrome
Definitions
A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.
Synonyms
xerodermic idiocy
de Sanctis-Cacchione syndrome
De Sanctis Cacchione Syndrome
Type http://www.w3.org/2002/07/owl#Class

All Properties

definition

A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.
label
de Sanctis-Cacchione syndrome
prefLabel
de Sanctis-Cacchione syndrome
database_cross_reference
NCIT:C84666
SCTID:414673004
OMIM:278800
MEDGEN:75550
GARD:8276
Orphanet:1569
MESH:C535992
UMLS:C0265201
icd11.foundation:594988031
ICD9:759.89
DOID:0112158
NORD:1035
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notation
MONDO:0010217
in_subset
has_related_synonym
xerodermic idiocy
id
MONDO:0010217
skos_exactMatch
seeAlso
subClassOf
type
has_exact_synonym
de Sanctis-Cacchione syndrome
De Sanctis Cacchione Syndrome
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