Online Mendelian Inheritance in Man - SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/618728 http://purl.bioontology.org/ontology/OMIM/618728
Preferred Name	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE
Synonyms	SEMDIST
Type	http://www.w3.org/2002/07/owl#Class

altLabel	SEMDIST
prefLabel	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE
Gene Symbol	BBC1 RPL13 D16S44E SEMDIST
notation	618728
Scope Statement	Upper limbs are relatively spared [MISCELLANEOUS] Caused by mutation in the ribosomal protein-L13 gene (RPL13, 113703.0001) [MOLECULAR BASIS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU066845 http://purl.bioontology.org/ontology/OMIM/MTHU066840 http://purl.bioontology.org/ontology/OMIM/MTHU001099 http://purl.bioontology.org/ontology/OMIM/MTHU066841 http://purl.bioontology.org/ontology/OMIM/MTHU036874 http://purl.bioontology.org/ontology/OMIM/MTHU043176 http://purl.bioontology.org/ontology/OMIM/MTHU066844 http://purl.bioontology.org/ontology/OMIM/MTHU040328 http://purl.bioontology.org/ontology/OMIM/MTHU000038 http://purl.bioontology.org/ontology/OMIM/MTHU066843 http://purl.bioontology.org/ontology/OMIM/MTHU066839 http://purl.bioontology.org/ontology/OMIM/MTHU014170 http://purl.bioontology.org/ontology/OMIM/MTHU066842 http://purl.bioontology.org/ontology/OMIM/MTHU000585 http://purl.bioontology.org/ontology/OMIM/MTHU008460 http://purl.bioontology.org/ontology/OMIM/MTHU002378 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	16q24.3
tui	T047
cui	C5231478

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