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 2 ID (Ontology) DOID:0110086 (Human Disease)
Definition An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT80 gene on chromosome 3q25.
Also Known As "ATD2" ; "short-rib thoracic dysplasia 2 with or without polydactyly" ; "SRTD2"
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 Genes
 asphyxiating thoracic dystrophy 2       1
 for disease ribbon | asphyxiating thoracic dystrophy 2       1
 model of | asphyxiating thoracic dystrophy 2       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease______
bone development disease             |
 |__asphyxiating thoracic dystrophy__|
                                     asphyxiating thoracic dystrophy 2  1 rec.
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Is a asphyxiating thoracic dystrophy
autosomal recessive disease
Part of
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Synonyms
  • "ATD2" EXACT OMO:0003012
    "short-rib thoracic dysplasia 2 with or without polydactyly" EXACT
    "SRTD2" EXACT OMO:0003012
Secondary IDs
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ICD10CM:Q77.2
MESH:C566982
MIM:611263