Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

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Preferred Name	TBC1 DOMAIN FAMILY, MEMBER 24
Synonyms	MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16 EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND WRITER'S CRAMP DEAFNESS, AUTOSOMAL RECESSIVE 86 KIAA1171 DEAFNESS, AUTOSOMAL DOMINANT 65 TBC1D24 DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME SKY SKYWALKER, DROSOPHILA, HOMOLOG OF
ID	http://purl.bioontology.org/ontology/OMIM/613577
altLabel	MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16 EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND WRITER'S CRAMP DEAFNESS, AUTOSOMAL RECESSIVE 86 KIAA1171 DEAFNESS, AUTOSOMAL DOMINANT 65 TBC1D24 DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME SKY SKYWALKER, DROSOPHILA, HOMOLOG OF
cui	C1823245 C0917800 C1842531 C0795934 C3892048 C3809173 C2829265
Gene Locus	16p13.3
Gene Symbol	TBC1D24 FIME KIAA1171 DOORS DFNA65 EPRPDC DFNB86 DEE16
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/613577.0007 http://purl.bioontology.org/ontology/OMIM/613577.0006 http://purl.bioontology.org/ontology/OMIM/613577.0005 http://purl.bioontology.org/ontology/OMIM/613577.0001 http://purl.bioontology.org/ontology/OMIM/613577.0002 http://purl.bioontology.org/ontology/OMIM/613577.0004 http://purl.bioontology.org/ontology/OMIM/613577.0009 http://purl.bioontology.org/ontology/OMIM/613577.0003 http://purl.bioontology.org/ontology/OMIM/613577.0008 http://purl.bioontology.org/ontology/OMIM/613577.0015 http://purl.bioontology.org/ontology/OMIM/613577.0013 http://purl.bioontology.org/ontology/OMIM/613577.0016 http://purl.bioontology.org/ontology/OMIM/613577.0014 http://purl.bioontology.org/ontology/OMIM/613577.0017 http://purl.bioontology.org/ontology/OMIM/613577.0011 http://purl.bioontology.org/ontology/OMIM/613577.0010 http://purl.bioontology.org/ontology/OMIM/613577.0012 http://purl.bioontology.org/ontology/OMIM/613577.0018
MIMTYPEMEANING	Gene with known sequence
notation	613577
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	TBC1 DOMAIN FAMILY, MEMBER 24
tui	T047 T028

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SCTSPA/784342008	SCTSPA	CUI
http://purl.bioontology.org/ontology/SCTSPA/1231737000	SCTSPA	CUI
http://purl.bioontology.org/ontology/MDRGER/10080835	MDRGER	CUI
http://purl.bioontology.org/ontology/MSHFRE/D004831	MSHFRE	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/784342008	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MESH/D004831	MESH	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/1231737000	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MESH/C535499	MESH	CUI
http://purl.bioontology.org/ontology/MESH/C563052	MESH	CUI
http://purl.bioontology.org/ontology/SCTSPA/719800009	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/719800009	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MDRFRE/10080835	MDRFRE	CUI
http://purl.bioontology.org/ontology/MEDDRA/10080835	MEDDRA	CUI
http://www.orpha.net/ORDO/Orphanet_239943	ORDO	LOOM
http://www.limics.org/hrdo/rdfns#gen_id_19324	HRDO	LOOM
http://www.ebi.ac.uk/efo/EFO_0009915	EFO	LOOM
http://purl.obolibrary.org/obo/PR_000016108	OBA	LOOM
http://www.orpha.net/ORDO/Orphanet_239943	ORDO	LOOM
http://www.case.edu/EpilepsyOntology.owl#TBC1D24	EPSO	LOOM
http://purl.obolibrary.org/obo/PR_000016108	PR	LOOM
http://purl.obolibrary.org/obo/PR_000016108	NIFSTD	LOOM