asphyxiating thoracic dystrophy

Term ID

DOID:0050592

Synonyms

Jeune syndrome
short-rib thoracic dysplasia with or without polydactyly
thoracic pelvic phalangeal dystrophy

Definition

A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy. https://ghr.nlm.nih.gov/condition/asphyxiating-thoracic-dystrophy

References

ICD10CM:Q77.2
MIM:PS208500
ORDO:474

Ontology

Human Disease ( DOID:0050592 )

Relationships

is a type of: bone development disease

bone development disease Show first 5 Terms
has subtype: asphyxiating thoracic dystrophy 1 asphyxiating thoracic dystrophy 2 asphyxiating thoracic dystrophy 3 asphyxiating thoracic dystrophy 4 asphyxiating thoracic dystrophy 5 ... Show All 15 Terms

asphyxiating thoracic dystrophy 1 asphyxiating thoracic dystrophy 2 asphyxiating thoracic dystrophy 3 asphyxiating thoracic dystrophy 4 asphyxiating thoracic dystrophy 5 short-rib thoracic dysplasia 6 with or without polydactyly short-rib thoracic dysplasia 7 with or without polydactyly short-rib thoracic dysplasia 8 with or without polydactyly short-rib thoracic dysplasia 9 with or without polydactyly short-rib thoracic dysplasia 10 with or without polydactyly short-rib thoracic dysplasia 11 with or without polydactyly short-rib thoracic dysplasia 13 with or without polydactyly short-rib thoracic dysplasia 14 with polydactyly short-rib thoracic dysplasia 18 with polydactyly short-rib thoracic dysplasia 19 with or without polydactyly Show first 5 Terms

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Alliance (1)

Genes Involved

Zebrafish Models