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Regulation of Gene Expression Ontolology
Last uploaded:
December 16, 2015
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| Preferred Name | Occipital horn syndrome | |
| Synonyms |
OHS |
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| Definitions |
(OHS) - An X-linked recessive disorder of copper metabolism. Common features are unusual facial appearance, skeletal abnormalities, chronic diarrhea and genitourinary defects. The skeletal abnormalities include occipital horns, short, broad clavicles, deformed radii, ulnae and humeri, narrowing of the rib cage, undercalcified long bones with thin cortical walls and coxa valga. |
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| ID |
http://identifiers.org/omim/304150 |
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| altLabel |
OHS
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| definition |
(OHS) - An X-linked recessive disorder of copper metabolism. Common features are unusual facial appearance, skeletal abnormalities, chronic diarrhea and genitourinary defects. The skeletal abnormalities include occipital horns, short, broad clavicles, deformed radii, ulnae and humeri, narrowing of the rib cage, undercalcified long bones with thin cortical walls and coxa valga.
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| id |
OMIM:304150
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| notation |
OMIM:304150
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| prefLabel |
Occipital horn syndrome
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| subClassOf |
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