Details of Disease

General Information of Disease (ID: DISAAU3T)

Disease Name Short-rib thoracic dysplasia 13 with or without polydactyly
Synonyms short-rib thoracic dysplasia 13 with or without polydactyly; SRTD13
Definition An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23.
Disease Hierarchy
DISLC357: Jeune syndrome
DISAAU3T: Short-rib thoracic dysplasia 13 with or without polydactyly
Disease Identifiers
MONDO ID
MONDO_0014577
UMLS CUI
C4225378
OMIM ID
616300
MedGen ID
898712

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
CEP120 OT1ZMRHL Strong Autosomal recessive [1]
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References

1 Talpid3-binding centrosomal protein Cep120 is required for centriole duplication and proliferation of cerebellar granule neuron progenitors. PLoS One. 2014 Sep 24;9(9):e107943. doi: 10.1371/journal.pone.0107943. eCollection 2014.