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 5 ID (Ontology) DOID:0110089 (Human Disease)
Definition An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14.
Also Known As "ATD5" ; "short-rib thoracic dysplasia 5 with or without polydactyly" ; "SRTD5"
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 Genes
 asphyxiating thoracic dystrophy 5       1
 for disease ribbon | asphyxiating thoracic dystrophy 5       1
 model of | asphyxiating thoracic dystrophy 5       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease______
bone development disease             |
 |__asphyxiating thoracic dystrophy__|
                                     asphyxiating thoracic dystrophy 5  1 rec.
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Is a asphyxiating thoracic dystrophy
autosomal recessive disease
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Synonyms
  • "ATD5" EXACT OMO:0003012
    "short-rib thoracic dysplasia 5 with or without polydactyly" EXACT
    "SRTD5" EXACT OMO:0003012
Secondary IDs
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ICD10CM:Q77.2
MIM:614376