Online Mendelian Inheritance in Man - MYOPATHY, TUBULAR AGGREGATE, 2 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615883 http://purl.bioontology.org/ontology/OMIM/615883
Preferred Name	MYOPATHY, TUBULAR AGGREGATE, 2
Synonyms	TAM2
Type	http://www.w3.org/2002/07/owl#Class

altLabel	TAM2
prefLabel	MYOPATHY, TUBULAR AGGREGATE, 2
Gene Symbol	IMD9 TMEM142A TAM2 CRACM1 ORAI1
Scope Statement	Slowly progressive [MISCELLANEOUS] Caused by mutation in the ORAI calcium release-activated calcium modulator 1 gene (ORAI1, 610277.0002) [MOLECULAR BASIS] Variable age at onset (range childhood to adult) [MISCELLANEOUS] Variable severity [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000650 http://purl.bioontology.org/ontology/OMIM/MTHU047212 http://purl.bioontology.org/ontology/OMIM/MTHU051107 http://purl.bioontology.org/ontology/OMIM/MTHU036379 http://purl.bioontology.org/ontology/OMIM/MTHU033608 http://purl.bioontology.org/ontology/OMIM/MTHU051106 http://purl.bioontology.org/ontology/OMIM/MTHU000660 http://purl.bioontology.org/ontology/OMIM/MTHU003216 http://purl.bioontology.org/ontology/OMIM/MTHU047213 http://purl.bioontology.org/ontology/OMIM/MTHU045039 http://purl.bioontology.org/ontology/OMIM/MTHU049733 http://purl.bioontology.org/ontology/OMIM/MTHU034749 http://purl.bioontology.org/ontology/OMIM/MTHU022606 http://purl.bioontology.org/ontology/OMIM/MTHU047214 http://purl.bioontology.org/ontology/OMIM/MTHU009389 http://purl.bioontology.org/ontology/OMIM/MTHU010755 http://purl.bioontology.org/ontology/OMIM/MTHU001005 http://purl.bioontology.org/ontology/OMIM/MTHU002170 http://purl.bioontology.org/ontology/OMIM/MTHU000988 http://purl.bioontology.org/ontology/OMIM/MTHU042236 http://purl.bioontology.org/ontology/OMIM/MTHU001696 http://purl.bioontology.org/ontology/OMIM/MTHU007095 http://purl.bioontology.org/ontology/OMIM/MTHU036435 http://purl.bioontology.org/ontology/OMIM/MTHU000798 See more See less
tui	T047
Gene Locus	12q24
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615883
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C4014557
OMIM Entry Type	3
OMIM MimType Value	pound

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