MSeqDR Mitochondrial Disease Portal


 
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expandinherited renal tubular disease (MONDO:0015962)
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expandnephropathy-associated ciliopathy (MONDO:0022409)
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expandrare renal tubular disease (MONDO:0019744)
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expandshort rib-polydactyly syndrome (MONDO:0015461)
..Starting node
..expandJeune syndrome ()

       Child Nodes:
........expandasphyxiating thoracic dystrophy 1 ()
........expandasphyxiating thoracic dystrophy 2 ()
........expandasphyxiating thoracic dystrophy 3 ()
........expandasphyxiating thoracic dystrophy 4 ()
........expandasphyxiating thoracic dystrophy 5 ()
........expandBeemer-Langer syndrome ()
........expandEllis-van Creveld syndrome ()
........expandshort-rib thoracic dysplasia 10 with or without polydactyly ()
........expandshort-rib thoracic dysplasia 11 with or without polydactyly ()
........expandshort-rib thoracic dysplasia 13 with or without polydactyly ()
........expandshort-rib thoracic dysplasia 14 with polydactyly ()
........expandshort-rib thoracic dysplasia 15 with polydactyly ()
........expandshort-rib thoracic dysplasia 16 with or without polydactyly ()
........expandshort-rib thoracic dysplasia 17 with or without polydactyly ()
........expandshort-rib thoracic dysplasia 18 with polydactyly ()
........expandshort-rib thoracic dysplasia 19 with or without polydactyly ()
........expandshort-rib thoracic dysplasia 20 with polydactyly ()
........expandshort-rib thoracic dysplasia 6 with or without polydactyly ()
........expandshort-rib thoracic dysplasia 7 with or without polydactyly ()
........expandshort-rib thoracic dysplasia 8 with or without polydactyly ()
........expandshort-rib thoracic dysplasia 9 with or without polydactyly ()



 Sister Nodes: 
..expandcranioectodermal dysplasia ()
..expandJeune syndrome ()
..expandJoubert syndrome with Jeune asphyxiating thoracic dystrophy ()
..expandshort rib-polydactyly syndrome type 5 ()
..expandshort rib-polydactyly syndrome, Majewski type ()
..expandshort rib-polydactyly syndrome, Saldino-Noonan type ()
..expandshort rib-polydactyly syndrome, Verma-Naumoff type ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:18770
Name:Jeune syndrome
Definition:Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes.
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Synonyms:asphyxiating thoracic dystrophy; asphyxiating thoracic dystrophy of the newborn; ATD; Chondroectodermal dysplasia-like syndrome; infantile thoracic dystrophy; JATD; Jeune asphyxiating thoracic dystrophy; Jeune syndrome; Jeune's syndrome; short-rib thoracic dysplasia; short-rib thoracic dysplasia wit
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Reference: MedGen:
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