Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	KERATIN 16, TYPE I
Synonyms	PACHYONYCHIA CONGENITA, LATE ONSET
ID	http://purl.bioontology.org/ontology/OMIM/148067
altLabel	PACHYONYCHIA CONGENITA, LATE ONSET KRT16 K16 PACHYONYCHIA CONGENITA 1 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 KA16
cui	C1416724 C4552049 C4016237 C1706595
Gene Locus	17q12-q21
Gene Symbol	PC1 FNEPPK KRT16
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/148067.0011 http://purl.bioontology.org/ontology/OMIM/148067.0010 http://purl.bioontology.org/ontology/OMIM/148067.0012 http://purl.bioontology.org/ontology/OMIM/148067.0013 http://purl.bioontology.org/ontology/OMIM/148067.0008 http://purl.bioontology.org/ontology/OMIM/148067.0009 http://purl.bioontology.org/ontology/OMIM/148067.0002 http://purl.bioontology.org/ontology/OMIM/148067.0004 http://purl.bioontology.org/ontology/OMIM/148067.0007 http://purl.bioontology.org/ontology/OMIM/148067.0003 http://purl.bioontology.org/ontology/OMIM/148067.0006 http://purl.bioontology.org/ontology/OMIM/148067.0005 http://purl.bioontology.org/ontology/OMIM/148067.0001
MIMTYPEMEANING	Gene with known sequence
notation	148067
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	KERATIN 16, TYPE I
tui	T047 T033 T028

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MDRGER/10080089	MDRGER	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/39427000	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SNMI/D4-01113	SNMI	CUI
http://purl.bioontology.org/ontology/MSHFRE/D053549	MSHFRE	CUI
http://purl.bioontology.org/ontology/SCTSPA/39427000	SCTSPA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10080089	MDRFRE	CUI
http://purl.bioontology.org/ontology/MEDDRA/10080089	MEDDRA	CUI
http://purl.bioontology.org/ontology/RCD/XE1MU	RCD	CUI
http://purl.bioontology.org/ontology/MESH/D053549	MESH	CUI