loading...| Preferred Name | thanatophoric dysplasia | |
| Synonyms |
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| Definitions |
An osteochondrodysplasia that results_in short arms and legs with excess folds of skin. Xref MGI. OMIM mapping confirmed by DO. [LS]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_13481 |
|
| comment |
Xref MGI. OMIM mapping confirmed by DO. [LS]. |
|
| database_cross_reference |
ORDO:93274 OMIM:273680 ORDO:2655 NCI:C85187 OMIM:187600 GARD:85 OMIM:187601 MESH:D013796 ORDO:1860 UMLS_CUI:C0039743 ORDO:93275 SNOMEDCT_US_2021_09_01:29352008 ICD10CM:Q77.1 |
|
| definition |
An osteochondrodysplasia that results_in short arms and legs with excess folds of skin. Xref MGI. OMIM mapping confirmed by DO. [LS]. |
|
| has exact match |
MESH:D013796 |
|
| has_obo_namespace |
disease_ontology |
|
| IAO_0000115 |
An osteochondrodysplasia that results_in short arms and legs with excess folds of skin. |
|
| id |
DOID:13481 |
|
| in_subset | ||
| label |
thanatophoric dysplasia |
|
| notation |
DOID:13481 |
|
| note |
An osteochondrodysplasia that results_in short arms and legs with excess folds of skin. Xref MGI. OMIM mapping confirmed by DO. [LS]. |
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| prefLabel |
thanatophoric dysplasia |
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| subClassOf |