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Regulation of Transcription Ontology
Last uploaded:
December 4, 2018
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| Id | http://identifiers.org/omim/100800
http://identifiers.org/omim/100800
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|---|---|
| Preferred Name | Achondroplasia |
| 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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| Synonyms |
ACH
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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. |
|---|---|
| altLabel |
ACH
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| prefLabel |
Achondroplasia
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| notation |
OMIM:100800
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| id |
OMIM:100800
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| subClassOf | |
| type |
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