Online Mendelian Inheritance in Man - INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/618342 http://purl.bioontology.org/ontology/OMIM/618342
Preferred Name	INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE
Synonyms	IDDABS
Type	http://www.w3.org/2002/07/owl#Class

altLabel	IDDABS
prefLabel	INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE
Gene Symbol	PUS7 KIAA1897 IDDABS
notation	618342
Scope Statement	Caused by mutation in the pseudouridylate synthase 7, putative, gene (PUS7, 616261.0001) [MOLECULAR BASIS] Onset in infancy or early childhood [MISCELLANEOUS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
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/MTHU000248 http://purl.bioontology.org/ontology/OMIM/MTHU064266 http://purl.bioontology.org/ontology/OMIM/MTHU062917 http://purl.bioontology.org/ontology/OMIM/MTHU022143 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU002677 http://purl.bioontology.org/ontology/OMIM/MTHU002015 http://purl.bioontology.org/ontology/OMIM/MTHU033932 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU036357 http://purl.bioontology.org/ontology/OMIM/MTHU033938 http://purl.bioontology.org/ontology/OMIM/MTHU000579 http://purl.bioontology.org/ontology/OMIM/MTHU002570 http://purl.bioontology.org/ontology/OMIM/MTHU001172 http://purl.bioontology.org/ontology/OMIM/MTHU000267 http://purl.bioontology.org/ontology/OMIM/MTHU005818 http://purl.bioontology.org/ontology/OMIM/MTHU001788 http://purl.bioontology.org/ontology/OMIM/MTHU000749 http://purl.bioontology.org/ontology/OMIM/MTHU000195 http://purl.bioontology.org/ontology/OMIM/MTHU004166 http://purl.bioontology.org/ontology/OMIM/MTHU002108 http://purl.bioontology.org/ontology/OMIM/MTHU002602 http://purl.bioontology.org/ontology/OMIM/MTHU000554 http://purl.bioontology.org/ontology/OMIM/MTHU064269 http://purl.bioontology.org/ontology/OMIM/MTHU064268 http://purl.bioontology.org/ontology/OMIM/MTHU038981 http://purl.bioontology.org/ontology/OMIM/MTHU004142 http://purl.bioontology.org/ontology/OMIM/MTHU033701 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU000094 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	7q22.3
tui	T047
cui	C5193039

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