Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/147800 http://purl.bioontology.org/ontology/OMIM/147800
Preferred Name	AASE-SMITH SYNDROME I
Synonyms	JOINT CONTRACTURES WITH OTHER ABNORMALITIES AASE-SMITH SYNDROME
Type	http://www.w3.org/2002/07/owl#Class

altLabel	JOINT CONTRACTURES WITH OTHER ABNORMALITIES AASE-SMITH SYNDROME
prefLabel	AASE-SMITH SYNDROME I
Scope Statement	Stillborn or death in infancy [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU065161 http://purl.bioontology.org/ontology/OMIM/MTHU000511 http://purl.bioontology.org/ontology/OMIM/MTHU065156 http://purl.bioontology.org/ontology/OMIM/MTHU065154 http://purl.bioontology.org/ontology/OMIM/MTHU065155 http://purl.bioontology.org/ontology/OMIM/MTHU065162 http://purl.bioontology.org/ontology/OMIM/MTHU009566 http://purl.bioontology.org/ontology/OMIM/MTHU001153 http://purl.bioontology.org/ontology/OMIM/MTHU065157 http://purl.bioontology.org/ontology/OMIM/MTHU000509 http://purl.bioontology.org/ontology/OMIM/MTHU065158 http://purl.bioontology.org/ontology/OMIM/MTHU057950 http://purl.bioontology.org/ontology/OMIM/MTHU065159 http://purl.bioontology.org/ontology/OMIM/MTHU065160 See more See less
tui	T047
MIMTYPEMEANING	Mendelian phenotype or locus, molecular basis unknown.
notation	147800
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C0220686
OMIM Entry Type	5
OMIM MimType Value	perc

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