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Cell Culture Ontology
Last uploaded:
July 23, 2014
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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.
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| 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. |
|---|---|
| preferred label |
de Sanctis-Cacchione syndrome
|
| label |
de Sanctis-Cacchione syndrome
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| prefLabel |
de Sanctis-Cacchione syndrome
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| database_cross_reference |
ICD9:759.89
Orphanet:1569
DOID:0112158
MEDGEN:75550
UMLS:C0265201
SCTID:414673004
MESH:C535992
icd11.foundation:594988031
OMIM:278800
NCIT:C84666
GARD:8276
NORD:1035
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|
| notation |
MONDO:0010217
|
| in_subset | |
| has_related_synonym |
xerodermic idiocy
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| id |
MONDO:0010217
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| skos_exactMatch |
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| see also | |
| subClassOf | |
| type | |
| has_exact_synonym |
de Sanctis-Cacchione syndrome
De Sanctis Cacchione Syndrome
|
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