Online Mendelian Inheritance in Man - DISABLING PANSCLEROTIC MORPHEA OF CHILDHOOD - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620443 http://purl.bioontology.org/ontology/OMIM/620443
Preferred Name	DISABLING PANSCLEROTIC MORPHEA OF CHILDHOOD
Synonyms	DPMC SCLERODERMA, JUVENILE LOCALIZED
Type	http://www.w3.org/2002/07/owl#Class

altLabel	DPMC SCLERODERMA, JUVENILE LOCALIZED
prefLabel	DISABLING PANSCLEROTIC MORPHEA OF CHILDHOOD
Gene Symbol	SLEB11 STAT4 DPMC
Scope Statement	Caused by mutation in the signal transducer and activator of transcription-4 gene (STAT4, 600558.0002) [MOLECULAR BASIS] No detectable autoantibodies [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU077309 http://purl.bioontology.org/ontology/OMIM/MTHU000068 http://purl.bioontology.org/ontology/OMIM/MTHU055827 http://purl.bioontology.org/ontology/OMIM/MTHU041499 http://purl.bioontology.org/ontology/OMIM/MTHU077310 http://purl.bioontology.org/ontology/OMIM/MTHU004637 http://purl.bioontology.org/ontology/OMIM/MTHU003217 http://purl.bioontology.org/ontology/OMIM/MTHU061196 http://purl.bioontology.org/ontology/OMIM/MTHU077301 http://purl.bioontology.org/ontology/OMIM/MTHU036353 http://purl.bioontology.org/ontology/OMIM/MTHU000129 http://purl.bioontology.org/ontology/OMIM/MTHU062910 http://purl.bioontology.org/ontology/OMIM/MTHU077305 http://purl.bioontology.org/ontology/OMIM/MTHU077304 http://purl.bioontology.org/ontology/OMIM/MTHU044966 http://purl.bioontology.org/ontology/OMIM/MTHU001788 http://purl.bioontology.org/ontology/OMIM/MTHU077302 http://purl.bioontology.org/ontology/OMIM/MTHU077306 http://purl.bioontology.org/ontology/OMIM/MTHU077299 http://purl.bioontology.org/ontology/OMIM/MTHU077300 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU077307 http://purl.bioontology.org/ontology/OMIM/MTHU077303 http://purl.bioontology.org/ontology/OMIM/MTHU077308 http://purl.bioontology.org/ontology/OMIM/MTHU014319 See more See less
tui	T047
Gene Locus	2q32.2-q32.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620443
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C3898649
OMIM Entry Type	3
OMIM MimType Value	pound

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