Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/601096 http://purl.bioontology.org/ontology/OMIM/601096
Preferred Name	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MICROMELIC
Synonyms	SEMD, MICROMELIC DWARFISM, MICROMELIC, WITH CONE EPIPHYSES, METAPHYSEAL DYSPLASIA, AND VERTEBRAL SEGMENTATION DEFECTS
Type	http://www.w3.org/2002/07/owl#Class

altLabel	SEMD, MICROMELIC DWARFISM, MICROMELIC, WITH CONE EPIPHYSES, METAPHYSEAL DYSPLASIA, AND VERTEBRAL SEGMENTATION DEFECTS
prefLabel	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MICROMELIC
notation	601096
Scope Statement	Based on the report of 1 male child [MISCELLANEOUS]
OMIM MimType Value	none
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	0
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU054208 http://purl.bioontology.org/ontology/OMIM/MTHU054209 http://purl.bioontology.org/ontology/OMIM/MTHU000514 http://purl.bioontology.org/ontology/OMIM/MTHU054210 http://purl.bioontology.org/ontology/OMIM/MTHU000073 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU058608 See more See less
MIMTYPEMEANING	Other, mainly phenotypes with suspected mendelian basis
tui	T047
cui	C1832800

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