Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/619751
http://purl.bioontology.org/ontology/OMIM/619751
Preferred Name

STUVE-WIEDEMANN SYNDROME 2
Synonyms
STWS2
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
STWS2
prefLabel
STUVE-WIEDEMANN SYNDROME 2
Gene Symbol
STWS2
HIES4B
IL6ST
HIES4A
IMD94
Scope Statement
Survival to 6 years of age has been reported in 1 patient [MISCELLANEOUS]
Lethal in utero or soon after birth [MISCELLANEOUS]
Caused by mutation in the interleukin 6 cytokine family signal transducer gene (IL6ST, 600694.0003) [MOLECULAR BASIS]
Variable nonskeletal features [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU004435
http://purl.bioontology.org/ontology/OMIM/MTHU009472
http://purl.bioontology.org/ontology/OMIM/MTHU002225
http://purl.bioontology.org/ontology/OMIM/MTHU021343
http://purl.bioontology.org/ontology/OMIM/MTHU031128
http://purl.bioontology.org/ontology/OMIM/MTHU013429
http://purl.bioontology.org/ontology/OMIM/MTHU075224
http://purl.bioontology.org/ontology/OMIM/MTHU075230
http://purl.bioontology.org/ontology/OMIM/MTHU000212
http://purl.bioontology.org/ontology/OMIM/MTHU000317
http://purl.bioontology.org/ontology/OMIM/MTHU036956
http://purl.bioontology.org/ontology/OMIM/MTHU007587
http://purl.bioontology.org/ontology/OMIM/MTHU007616
http://purl.bioontology.org/ontology/OMIM/MTHU010284
http://purl.bioontology.org/ontology/OMIM/MTHU001794
http://purl.bioontology.org/ontology/OMIM/MTHU075226
http://purl.bioontology.org/ontology/OMIM/MTHU014114
http://purl.bioontology.org/ontology/OMIM/MTHU001721
http://purl.bioontology.org/ontology/OMIM/MTHU005945
http://purl.bioontology.org/ontology/OMIM/MTHU000189
http://purl.bioontology.org/ontology/OMIM/MTHU075225
http://purl.bioontology.org/ontology/OMIM/MTHU075229
http://purl.bioontology.org/ontology/OMIM/MTHU014170
http://purl.bioontology.org/ontology/OMIM/MTHU075227
http://purl.bioontology.org/ontology/OMIM/MTHU000145
http://purl.bioontology.org/ontology/OMIM/MTHU075228
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tui
T047
Gene Locus
5q11
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
619751
Semantic type UMLS property
Has inheritance type
cui
C5676919
OMIM Entry Type
3
OMIM MimType Value
pound
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