Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620232 http://purl.bioontology.org/ontology/OMIM/620232
Preferred Name	JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA
Synonyms	NFAT1 DEFICIENCY JCOSL
Type	http://www.w3.org/2002/07/owl#Class

altLabel	NFAT1 DEFICIENCY JCOSL
prefLabel	JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA
Gene Symbol	NFATP NFATC2 JCOSL
Scope Statement	One patient, born of consanguineous Middle Eastern parents, has been reported (last curated January 2023) [MISCELLANEOUS] Onset of joint contractures in early childhood [MISCELLANEOUS] Caused by mutation in the nuclear factor of activated T cells, cytoplasmic, calcineurin-dependent 2 gene (NFATC2, 600490.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU071978 http://purl.bioontology.org/ontology/OMIM/MTHU072022 http://purl.bioontology.org/ontology/OMIM/MTHU027312 http://purl.bioontology.org/ontology/OMIM/MTHU000031 http://purl.bioontology.org/ontology/OMIM/MTHU076921 http://purl.bioontology.org/ontology/OMIM/MTHU019696 http://purl.bioontology.org/ontology/OMIM/MTHU000035 http://purl.bioontology.org/ontology/OMIM/MTHU076922 http://purl.bioontology.org/ontology/OMIM/MTHU059789 http://purl.bioontology.org/ontology/OMIM/MTHU076919 http://purl.bioontology.org/ontology/OMIM/MTHU076920 See more See less
tui	T047
Gene Locus	20q13.2-q13.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620232
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5774305
OMIM Entry Type	3
OMIM MimType Value	pound

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