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Regulation of Gene Expression Ontolology
Last uploaded:
December 16, 2015
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| Preferred Name | Achondroplasia | |
| Synonyms |
ACH |
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| Definitions |
(ACH) - A frequent form of short-limb dwarfism. It is characterized by a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands. |
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| ID |
http://identifiers.org/omim/100800 |
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| altLabel |
ACH
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| definition |
(ACH) - A frequent form of short-limb dwarfism. It is characterized by a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands.
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| id |
OMIM:100800
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| notation |
OMIM:100800
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| prefLabel |
Achondroplasia
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| subClassOf |
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