Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	PORCUPINE O-ACYLTRANSFERASE
Synonyms	FOCAL DERMAL HYPOPLASIA PORC PORCN PORCUPINE, DROSOPHILA, HOMOLOG OF
ID	http://purl.bioontology.org/ontology/OMIM/300651
altLabel	FOCAL DERMAL HYPOPLASIA PORC PORCN PORCUPINE, DROSOPHILA, HOMOLOG OF
cui	C1538703 C0016395
Gene Locus	Xp11.23
Gene Symbol	FODH PORC PORCN DHOF
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/300651.0003 http://purl.bioontology.org/ontology/OMIM/300651.0002 http://purl.bioontology.org/ontology/OMIM/300651.0004 http://purl.bioontology.org/ontology/OMIM/300651.0005 http://purl.bioontology.org/ontology/OMIM/300651.0001
MIMTYPEMEANING	Gene with known sequence
notation	300651
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	PORCUPINE O-ACYLTRANSFERASE
tui	T047 T028

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MSHFRE/D005489	MSHFRE	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/205573006	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/CSP/0726-8244	CRISP	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001264	NDFRT	CUI
http://purl.bioontology.org/ontology/RCD/X50Kk	RCD	CUI
http://purl.bioontology.org/ontology/MESH/D005489	MESH	CUI
http://purl.bioontology.org/ontology/SCTSPA/205573006	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNMI/D4-01054	SNMI	CUI
http://www.orpha.net/ORDO/Orphanet_159255	ORDO	LOOM