loading...| Preferred Name | achondrogenesis | |
| Synonyms |
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| Definitions |
Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0019648 |
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| database_cross_reference |
OMIMPS:200600 MedDRA:10066122 SCTID:2391001 ICD10CM:Q77.0 NCIT:C84527 Orphanet:932 UMLS:C0001079 MESH:C579878 DOID:0080043 icd11.foundation:103965243 GARD:2882 MEDGEN:84 NORD:710 |
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| definition |
Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2. |
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| id |
MONDO:0019648 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
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| label |
achondrogenesis |
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| notation |
MONDO:0019648 |
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| preferred label |
achondrogenesis |
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| prefLabel |
achondrogenesis |
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| see also |
https://rarediseases.info.nih.gov/diseases/2882/achondrogenesis |
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| skos_closeMatch | ||
| skos_exactMatch |
http://identifiers.org/mesh/C579878 http://purl.obolibrary.org/obo/Orphanet_932 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/103965243 http://purl.bioontology.org/ontology/ICD10CM/Q77.0 https://omim.org/phenotypicSeries/PS200600 http://identifiers.org/medgen/84 http://purl.obolibrary.org/obo/DOID_0080043 http://purl.obolibrary.org/obo/NCIT_C84527 |
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| subClassOf |