loading...| Preferred Name |
achondrogenesis type II |
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| Synonyms |
achondrogenesis, type IB, formerly achondrogenesis, type II ACG2 hypochondrogenesis achondrogenesis, type IB chondrogenesis imperfecta achondrogenesis, type 2 achondrogenesis type 2 achondrogenesis, type II or hypochondrogenesis achondrogenesis, Langer-Saldino type achondrogenesis type II |
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| Definitions |
Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0008702 |
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| altLabel |
achondrogenesis, type IB, formerly achondrogenesis, type II ACG2 hypochondrogenesis achondrogenesis, type IB chondrogenesis imperfecta achondrogenesis, type 2 achondrogenesis type 2 achondrogenesis, type II or hypochondrogenesis achondrogenesis, Langer-Saldino type achondrogenesis type II |
|
| definition |
Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage. |
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| has_exact_synonym |
achondrogenesis, type II or hypochondrogenesis achondrogenesis, Langer-Saldino type achondrogenesis type II |
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| has_related_synonym |
achondrogenesis, type IB, formerly achondrogenesis, type II ACG2 hypochondrogenesis achondrogenesis, type IB chondrogenesis imperfecta achondrogenesis, type 2 achondrogenesis type 2 |
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| IAO_0000233 | ||
| label |
achondrogenesis type II |
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| prefixIRI |
MONDO:0008702 |
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| prefLabel |
achondrogenesis type II |
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| textual definition |
Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage. |
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| subClassOf |