Online Mendelian Inheritance in Man - NETHERTON SYNDROME - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/256500 http://purl.bioontology.org/ontology/OMIM/256500
Preferred Name	NETHERTON SYNDROME
Synonyms	NETHERTON DISEASE ERYTHRODERMA, ICHTHYOSIFORM, WITH HYPOTRICHOSIS AND HYPER-IgE COMEL-NETHERTON SYNDROME NS NETH
Type	http://www.w3.org/2002/07/owl#Class

altLabel	NETHERTON DISEASE ERYTHRODERMA, ICHTHYOSIFORM, WITH HYPOTRICHOSIS AND HYPER-IgE COMEL-NETHERTON SYNDROME NS NETH
prefLabel	NETHERTON SYNDROME
Gene Symbol	SPINK5 LEKTI
Scope Statement	Caused by mutation in the serine protease inhibitor, Kazal type, 5 gene (SPINK5, 605010.0001) [MOLECULAR BASIS] Some severely affected infants die in the neonatal period [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU037793 http://purl.bioontology.org/ontology/OMIM/MTHU010707 http://purl.bioontology.org/ontology/OMIM/MTHU006900 http://purl.bioontology.org/ontology/OMIM/MTHU010705 http://purl.bioontology.org/ontology/OMIM/MTHU000068 http://purl.bioontology.org/ontology/OMIM/MTHU063441 http://purl.bioontology.org/ontology/OMIM/MTHU010703 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU063447 http://purl.bioontology.org/ontology/OMIM/MTHU010709 http://purl.bioontology.org/ontology/OMIM/MTHU063446 http://purl.bioontology.org/ontology/OMIM/MTHU037792 http://purl.bioontology.org/ontology/OMIM/MTHU010702 http://purl.bioontology.org/ontology/OMIM/MTHU010699 http://purl.bioontology.org/ontology/OMIM/MTHU002999 http://purl.bioontology.org/ontology/OMIM/MTHU002945 http://purl.bioontology.org/ontology/OMIM/MTHU063445 http://purl.bioontology.org/ontology/OMIM/MTHU003537 http://purl.bioontology.org/ontology/OMIM/MTHU010704 http://purl.bioontology.org/ontology/OMIM/MTHU049018 http://purl.bioontology.org/ontology/OMIM/MTHU063448 http://purl.bioontology.org/ontology/OMIM/MTHU010706 http://purl.bioontology.org/ontology/OMIM/MTHU063442 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU010698 http://purl.bioontology.org/ontology/OMIM/MTHU010701 http://purl.bioontology.org/ontology/OMIM/MTHU063443 http://purl.bioontology.org/ontology/OMIM/MTHU010697 http://purl.bioontology.org/ontology/OMIM/MTHU063449 http://purl.bioontology.org/ontology/OMIM/MTHU063444 See more See less
tui	T047
Gene Locus	5q32
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	256500
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5574950
OMIM Entry Type	3
OMIM MimType Value	pound

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