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loading...| Preferred Name |
asphyxiating thoracic dystrophy |
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| Synonyms |
thoracic pelvic phalangeal dystrophy Jeune syndrome |
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| Definitions |
OMIM mapping confirmed by DO. [SN]. A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0050592 |
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| comment |
OMIM mapping confirmed by DO. [SN]. |
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| database_cross_reference |
ICD10CM:Q77.2 OMIM:PS208500 ORDO:474 |
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| has exact synonym |
thoracic pelvic phalangeal dystrophy short-rib thoracic dysplasia with or without polydactyly Jeune syndrome |
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| has_obo_namespace |
disease_ontology |
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| id |
DOID:0050592 |
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| in_subset | ||
| label |
asphyxiating thoracic dystrophy |
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| notation |
DOID:0050592 |
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| prefLabel |
asphyxiating thoracic dystrophy |
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| textual definition |
A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy. |
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| subClassOf |
Create mapping