Online Mendelian Inheritance in Man - SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/608800 http://purl.bioontology.org/ontology/OMIM/608800
Preferred Name	SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME
Synonyms	SIDDT
Type	http://www.w3.org/2002/07/owl#Class

altLabel	SIDDT
prefLabel	SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME
Gene Symbol	TSPYL1 SIDDT TSPYL
Scope Statement	Caused by mutation in the testis-specific protein-like 1 gene (TSPYL1, 604714.0001) [MOLECULAR BASIS] Death occurs before 12 months of age due to cardiorespiratory arrest [MISCELLANEOUS] Affected infants appear normal at birth [MISCELLANEOUS] Symptoms develop immediately after birth [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU037278 http://purl.bioontology.org/ontology/OMIM/MTHU001709 http://purl.bioontology.org/ontology/OMIM/MTHU001729 http://purl.bioontology.org/ontology/OMIM/MTHU001704 http://purl.bioontology.org/ontology/OMIM/MTHU001711 http://purl.bioontology.org/ontology/OMIM/MTHU004223 http://purl.bioontology.org/ontology/OMIM/MTHU000317 http://purl.bioontology.org/ontology/OMIM/MTHU001707 http://purl.bioontology.org/ontology/OMIM/MTHU001710 http://purl.bioontology.org/ontology/OMIM/MTHU001716 http://purl.bioontology.org/ontology/OMIM/MTHU068956 http://purl.bioontology.org/ontology/OMIM/MTHU001714 http://purl.bioontology.org/ontology/OMIM/MTHU001726 http://purl.bioontology.org/ontology/OMIM/MTHU001719 http://purl.bioontology.org/ontology/OMIM/MTHU001724 http://purl.bioontology.org/ontology/OMIM/MTHU001733 http://purl.bioontology.org/ontology/OMIM/MTHU001715 http://purl.bioontology.org/ontology/OMIM/MTHU005305 http://purl.bioontology.org/ontology/OMIM/MTHU001713 http://purl.bioontology.org/ontology/OMIM/MTHU004126 http://purl.bioontology.org/ontology/OMIM/MTHU001708 http://purl.bioontology.org/ontology/OMIM/MTHU001706 http://purl.bioontology.org/ontology/OMIM/MTHU001725 http://purl.bioontology.org/ontology/OMIM/MTHU037208 http://purl.bioontology.org/ontology/OMIM/MTHU001734 http://purl.bioontology.org/ontology/OMIM/MTHU001731 http://purl.bioontology.org/ontology/OMIM/MTHU001721 http://purl.bioontology.org/ontology/OMIM/MTHU036338 http://purl.bioontology.org/ontology/OMIM/MTHU001705 http://purl.bioontology.org/ontology/OMIM/MTHU001732 http://purl.bioontology.org/ontology/OMIM/MTHU000066 http://purl.bioontology.org/ontology/OMIM/MTHU001718 http://purl.bioontology.org/ontology/OMIM/MTHU001717 http://purl.bioontology.org/ontology/OMIM/MTHU001722 http://purl.bioontology.org/ontology/OMIM/MTHU001720 http://purl.bioontology.org/ontology/OMIM/MTHU001723 See more See less
tui	T047
Gene Locus	6q22-q23
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	608800
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1837371
OMIM Entry Type	3
OMIM MimType Value	pound

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