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Experimental Factor Ontology
| Preferred Name | achondrogenesis type II | |
| Synonyms |
chondrogenesis imperfecta achondrogenesis, type II hypochondrogenesis achondrogenesis, type IB achondrogenesis, type 2 achondrogenesis type 2 achondrogenesis, type IB, formerly ACG2 achondrogenesis type II achondrogenesis, Langer-Saldino type achondrogenesis, type II or hypochondrogenesis |
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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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0008702 |
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| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0008702 |
|
| database_cross_reference |
DOID:0080056 OMIM:200610 MESH:C536017 Orphanet:93296 UMLS:C0220685 NANDO:2201345 MEDGEN:66315 GARD:8713
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|
| 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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|
| exactMatch |
http://identifiers.org/medgen/66315 http://linkedlifedata.com/resource/umls/id/C0220685 http://purl.obolibrary.org/obo/Orphanet_93296 http://purl.obolibrary.org/obo/DOID_0080056 |
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| has_exact_synonym |
achondrogenesis type II achondrogenesis, Langer-Saldino type achondrogenesis, type II or hypochondrogenesis
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|
| has_related_synonym |
chondrogenesis imperfecta achondrogenesis, type II hypochondrogenesis achondrogenesis, type IB achondrogenesis, type 2 achondrogenesis type 2 achondrogenesis, type IB, formerly ACG2
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|
| IAO_0000233 | ||
| id |
MONDO:0008702
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|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_subtype_of_a_disorder |
|
| label |
achondrogenesis type II
|
|
| notation |
MONDO:0008702
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|
| preferred label |
achondrogenesis type II
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|
| prefLabel |
achondrogenesis type II
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| subClassOf |
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