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Gene Expression Ontology
Last uploaded:
December 16, 2015
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| Id | http://identifiers.org/omim/102500
http://identifiers.org/omim/102500
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|---|---|
| Preferred Name | Hajdu-Cheney syndrome |
| Definitions |
(HJCYS) - A rare skeletal disorder characterized by the association of facial anomalies, acro-osteolysis, general osteoporosis, insufficient ossification of the skull, and periodontal disease (premature loss of permanent teeth). Other features include cleft palate, congenital heart defects, polycystic kidneys, orthopedic problems and anomalies of the genitalia, intestines and eyes.
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| Synonyms |
HJCYS
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | (HJCYS) - A rare skeletal disorder characterized by the association of facial anomalies, acro-osteolysis, general osteoporosis, insufficient ossification of the skull, and periodontal disease (premature loss of permanent teeth). Other features include cleft palate, congenital heart defects, polycystic kidneys, orthopedic problems and anomalies of the genitalia, intestines and eyes. |
|---|---|
| altLabel |
HJCYS
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| prefLabel |
Hajdu-Cheney syndrome
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| notation |
OMIM:102500
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| id |
OMIM:102500
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| subClassOf | |
| type |
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