FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term thanatophoric dysplasia ID (Ontology) DOID:13481 (Human Disease)
Definition An osteochondrodysplasia that results_in short arms and legs with excess folds of skin.
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 Genes
 thanatophoric dysplasia       1
 for disease ribbon | thanatophoric dysplasia       1
 model of | thanatophoric dysplasia       1
Spanning Tree (Parents/Children)
Only view relationship: 
bone development disease__
cartilage disease_________|
                          osteochondrodysplasia
                           |__thanatophoric dysplasia  1 rec.
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Is a osteochondrodysplasia
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Synonyms
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GARD:85
ICD10CM:Q77.1
MESH:D013796
MIM:187600
MIM:187601
MIM:273680
NCI:C85187
ORDO:1860
ORDO:2655
ORDO:93274
ORDO:93275
SNOMEDCT_US_2023_03_01:29352008
UMLS_CUI:C0039743