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Cell Cycle Ontology
Last uploaded:
June 26, 2014
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| Preferred Name | Achondroplasia | |
| Synonyms |
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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://purl.obolibrary.org/obo/OMIM_100800 |
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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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| has_obo_namespace |
cell_cycle_ontology
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| id |
OMIM:100800
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| label |
Achondroplasia
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| notation |
OMIM:100800
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| prefLabel |
Achondroplasia
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| treeView | ||
| subClassOf |
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