Online Mendelian Inheritance in Man - ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 - Classes | NCBO OntoPortal Appliance

Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

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Preferred Name	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2
Synonyms	ICHTHYOSIFORM ERYTHRODERMA, NONBULLOUS CONGENITAL, 1, FORMERLY
ID	http://purl.bioontology.org/ontology/OMIM/242100
altLabel	ICHTHYOSIFORM ERYTHRODERMA, NONBULLOUS CONGENITAL, 1, FORMERLY COLLODION BABY, SELF-HEALING NCIE1, FORMERLY ARCI2 ICHTHYOSIFORM ERYTHRODERMA, BROCQ CONGENITAL, NONBULLOUS FORM, FORMERLY
cui	C3888093 C1855789
Gene Locus	17p13.1
Gene Symbol	ARCI2 ALOX12B
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU037551 http://purl.bioontology.org/ontology/OMIM/MTHU003000 http://purl.bioontology.org/ontology/OMIM/MTHU037561 http://purl.bioontology.org/ontology/OMIM/MTHU037555 http://purl.bioontology.org/ontology/OMIM/MTHU016817 http://purl.bioontology.org/ontology/OMIM/MTHU037549 http://purl.bioontology.org/ontology/OMIM/MTHU037547 http://purl.bioontology.org/ontology/OMIM/MTHU037550 http://purl.bioontology.org/ontology/OMIM/MTHU037553 http://purl.bioontology.org/ontology/OMIM/MTHU037559 http://purl.bioontology.org/ontology/OMIM/MTHU037557 http://purl.bioontology.org/ontology/OMIM/MTHU032127 http://purl.bioontology.org/ontology/OMIM/MTHU037560 http://purl.bioontology.org/ontology/OMIM/MTHU001049 http://purl.bioontology.org/ontology/OMIM/MTHU037562 http://purl.bioontology.org/ontology/OMIM/MTHU037546 http://purl.bioontology.org/ontology/OMIM/MTHU037552 http://purl.bioontology.org/ontology/OMIM/MTHU037558 http://purl.bioontology.org/ontology/OMIM/MTHU037556 http://purl.bioontology.org/ontology/OMIM/MTHU037554 http://purl.bioontology.org/ontology/OMIM/MTHU037548
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	242100
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2
tui	T019 T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C565473	Medical Subject Headings	CUI