loading...| Preferred Name |
Skeletal dysplasia |
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| Synonyms |
Abnormal skeletal development |
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| Definitions |
The word skeletal dysplasia is most often used to describe a group of over 380 inherited conditions that involve abnormal development of bones and connective tissues. However, the word can also be used to describe the presence of congenital defects of bones or connective tissues that are found in one or more of the diseases, especially on prenatal ultrasound, i.e., a situation in which it is often not yet possible to make an exact etiological diagnosis. This is the sense of the phrase we use in the HPO. It is, however, preferable to annotate the observed abnormalities. A general term describing features characterized by abnormal development of bones and connective tissues. |
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| ID |
http://purl.obolibrary.org/obo/HP_0002652 |
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| comment |
The word skeletal dysplasia is most often used to describe a group of over 380 inherited conditions that involve abnormal development of bones and connective tissues. However, the word can also be used to describe the presence of congenital defects of bones or connective tissues that are found in one or more of the diseases, especially on prenatal ultrasound, i.e., a situation in which it is often not yet possible to make an exact etiological diagnosis. This is the sense of the phrase we use in the HPO. It is, however, preferable to annotate the observed abnormalities. |
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| database_cross_reference |
UMLS:C4280567 UMLS:C0029422 MSH:D010009 SNOMEDCT_US:240190009 SNOMEDCT_US:105985007 |
|
| definition |
A general term describing features characterized by abnormal development of bones and connective tissues. |
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| has_broad_synonym |
Abnormal skeletal development |
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| label |
Skeletal dysplasia |
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| prefixIRI |
HP:0002652 |
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| prefLabel |
Skeletal dysplasia |
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| subClassOf |