loading...| Preferred Name |
Phocomelia |
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| Synonyms |
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| Definitions |
Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia). |
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| ID |
http://purl.obolibrary.org/obo/HP_0009829 |
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| creation date |
2009-02-23T05:17:25Z |
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| creator | ||
| database_cross_reference |
UMLS:C0031575 MEDDRA:10034923 SNOMEDCT_US:22841008 MSH:D004480 |
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| definition |
Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia). |
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| has_alternative_id |
HP:0002994 |
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| id |
HP:0009829 |
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| in_subset | ||
| label |
Phocomelia |
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| notation |
HP:0009829 |
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| prefLabel |
Phocomelia |
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| subClassOf |
http://purl.obolibrary.org/obo/MP_0003723 |