Online Mendelian Inheritance in Man - NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/620494 http://purl.bioontology.org/ontology/OMIM/620494
Preferred Name	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES
Synonyms	NEDLBF
Type	http://www.w3.org/2002/07/owl#Class

altLabel	NEDLBF
prefLabel	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES
Gene Symbol	UBAP2L NEDLBF NICE4
notation	620494
Scope Statement	Variable severity [MISCELLANEOUS] De novo mutation [MISCELLANEOUS] Onset in infancy or early childhood [MISCELLANEOUS] Caused by mutation in the ubiquitin-associated protein 2-like gene (UBAP2L, 616472.0001) [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/MTHU061078 http://purl.bioontology.org/ontology/OMIM/MTHU000231 http://purl.bioontology.org/ontology/OMIM/MTHU002713 http://purl.bioontology.org/ontology/OMIM/MTHU036427 http://purl.bioontology.org/ontology/OMIM/MTHU007696 http://purl.bioontology.org/ontology/OMIM/MTHU001017 http://purl.bioontology.org/ontology/OMIM/MTHU000263 http://purl.bioontology.org/ontology/OMIM/MTHU000253 http://purl.bioontology.org/ontology/OMIM/MTHU050641 http://purl.bioontology.org/ontology/OMIM/MTHU036341 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU062577 http://purl.bioontology.org/ontology/OMIM/MTHU000848 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU002677 http://purl.bioontology.org/ontology/OMIM/MTHU008495 http://purl.bioontology.org/ontology/OMIM/MTHU000583 http://purl.bioontology.org/ontology/OMIM/MTHU077747 http://purl.bioontology.org/ontology/OMIM/MTHU006526 http://purl.bioontology.org/ontology/OMIM/MTHU036357 http://purl.bioontology.org/ontology/OMIM/MTHU004805 http://purl.bioontology.org/ontology/OMIM/MTHU054935 http://purl.bioontology.org/ontology/OMIM/MTHU077746 http://purl.bioontology.org/ontology/OMIM/MTHU000073 http://purl.bioontology.org/ontology/OMIM/MTHU000389 http://purl.bioontology.org/ontology/OMIM/MTHU061620 http://purl.bioontology.org/ontology/OMIM/MTHU001626 http://purl.bioontology.org/ontology/OMIM/MTHU070106 http://purl.bioontology.org/ontology/OMIM/MTHU043125 http://purl.bioontology.org/ontology/OMIM/MTHU000681 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU002513 http://purl.bioontology.org/ontology/OMIM/MTHU007070 http://purl.bioontology.org/ontology/OMIM/MTHU005669 http://purl.bioontology.org/ontology/OMIM/MTHU000575 http://purl.bioontology.org/ontology/OMIM/MTHU000710 http://purl.bioontology.org/ontology/OMIM/MTHU061626 http://purl.bioontology.org/ontology/OMIM/MTHU000324 http://purl.bioontology.org/ontology/OMIM/MTHU003860 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU004024 http://purl.bioontology.org/ontology/OMIM/MTHU036450 http://purl.bioontology.org/ontology/OMIM/MTHU000257 http://purl.bioontology.org/ontology/OMIM/MTHU011134 http://purl.bioontology.org/ontology/OMIM/MTHU059987 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU003629 http://purl.bioontology.org/ontology/OMIM/MTHU036896 http://purl.bioontology.org/ontology/OMIM/MTHU000569 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	1q21.3
tui	T047
cui	C5882686

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