short-rib thoracic dysplasia 13 with or without polydactyly
An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23.
MONDO:0018770
Jeune syndrome
is_a
SRTD13
exact
short-rib thoracic dysplasia 13 with or without polydactyly
exact