Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/602557
http://purl.bioontology.org/ontology/OMIM/602557
Preferred Name

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE
Synonyms
SEMD, SHOHAT TYPE
SEMDSH
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
SEMD, SHOHAT TYPE
SEMDSH
prefLabel
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE
Gene Symbol
DDRGK1
SEMDSH
UFBP1
C20orf116
Scope Statement
Caused by mutation in the DDRGK domain-containing protein 1 gene (DDRGK1, 616177.0001) [MOLECULAR BASIS]
Waddling gate [MISCELLANEOUS]
Tracheal narrowing may result in fatal upper airway obstruction [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU002791
http://purl.bioontology.org/ontology/OMIM/MTHU065598
http://purl.bioontology.org/ontology/OMIM/MTHU005319
http://purl.bioontology.org/ontology/OMIM/MTHU065381
http://purl.bioontology.org/ontology/OMIM/MTHU009982
http://purl.bioontology.org/ontology/OMIM/MTHU005067
http://purl.bioontology.org/ontology/OMIM/MTHU005325
http://purl.bioontology.org/ontology/OMIM/MTHU060265
http://purl.bioontology.org/ontology/OMIM/MTHU068349
http://purl.bioontology.org/ontology/OMIM/MTHU005330
http://purl.bioontology.org/ontology/OMIM/MTHU036874
http://purl.bioontology.org/ontology/OMIM/MTHU000514
http://purl.bioontology.org/ontology/OMIM/MTHU021961
http://purl.bioontology.org/ontology/OMIM/MTHU001802
http://purl.bioontology.org/ontology/OMIM/MTHU001148
http://purl.bioontology.org/ontology/OMIM/MTHU005323
http://purl.bioontology.org/ontology/OMIM/MTHU005207
http://purl.bioontology.org/ontology/OMIM/MTHU005317
http://purl.bioontology.org/ontology/OMIM/MTHU002115
http://purl.bioontology.org/ontology/OMIM/MTHU005318
http://purl.bioontology.org/ontology/OMIM/MTHU005329
http://purl.bioontology.org/ontology/OMIM/MTHU000038
http://purl.bioontology.org/ontology/OMIM/MTHU005327
http://purl.bioontology.org/ontology/OMIM/MTHU005332
http://purl.bioontology.org/ontology/OMIM/MTHU060264
http://purl.bioontology.org/ontology/OMIM/MTHU005328
http://purl.bioontology.org/ontology/OMIM/MTHU005331
http://purl.bioontology.org/ontology/OMIM/MTHU038765
http://purl.bioontology.org/ontology/OMIM/MTHU065596
http://purl.bioontology.org/ontology/OMIM/MTHU005315
http://purl.bioontology.org/ontology/OMIM/MTHU005316
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tui
T047
Gene Locus
20p13
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
602557
Semantic type UMLS property
Has inheritance type
cui
C1865185
OMIM Entry Type
3
OMIM MimType Value
pound
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