FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term asphyxiating thoracic dystrophy 1 ID (Ontology) DOID:0110085 (Human Disease)
Definition An asphyxiating thoracic dystrophy associated with variation in the region 15q13.
Also Known As "ATD1" ; "short-rib thoracic dysplasia 1 with or without polydactyly" ; "SRTD1"
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autosomal genetic disease
 |__autosomal recessive disease______
bone development disease             |
 |__asphyxiating thoracic dystrophy__|
                                     asphyxiating thoracic dystrophy 1
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Is a asphyxiating thoracic dystrophy
autosomal recessive disease
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Synonyms
  • "ATD1" EXACT OMO:0003012
    "short-rib thoracic dysplasia 1 with or without polydactyly" EXACT
    "SRTD1" EXACT OMO:0003012
Secondary IDs
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ICD10CM:Q77.2
MIM:208500