Details of Disease

General Information of Disease (ID: DISMCOEZ)

Disease Name Short-rib thoracic dysplasia 16 with or without polydactyly
Synonyms SRTD16; short-rib thoracic dysplasia 16 with or without polydactyly; short-rib thoracic dysplasia 16 with or without polydactyly; SRTD16
Disease Hierarchy
DISLC357: Jeune syndrome
DISW7Y64: Cranioectodermal dysplasia
DISMCOEZ: Short-rib thoracic dysplasia 16 with or without polydactyly
Disease Identifiers
MONDO ID
MONDO_0014915
UMLS CUI
C4310718
OMIM ID
617102
MedGen ID
934685

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
IFT52 OTFIVV9A Strong Autosomal recessive [1]
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References

1 Intraflagellar transport genes are essential for differentiation and survival of vertebrate sensory neurons. Neuron. 2004 Jun 10;42(5):703-16. doi: 10.1016/s0896-6273(04)00268-5.