Preferred Label : Short-rib thoracic dysplasia 9 with or without polydactyly;
Symbol : SRTD9;
CISMeF acronym : SRTD9;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Mainzer-saldino syndrome; Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia; Conorenal syndrome; MZSDS;
Description : Mainzer-Saldino syndrome, or conorenal syndrome, is a multisystem disorder characterized
by early-onset retinopathy, phalangeal cone-shaped epiphyses, and chronic renal disease.
More variable features include short stature, craniosynostosis, small thorax, and
hepatic fibrosis. It is considered a skeletal ciliopathy (summary by Perrault et al.,
2012).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the intraflagellar transport 140 gene (IFT140, 614620.0001);
Prefixed ID : #266920;
Origin ID : 266920;
UMLS CUI : C1849437;
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)