Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A

Synonyms

ICHTHYOSIS, LAMELLAR, 2, FORMERLY

ID

http://purl.bioontology.org/ontology/OMIM/601277

altLabel

ICHTHYOSIS, LAMELLAR, 2, FORMERLY

ICR2B

ICHTHYOSIS CONGENITA IIB

ARCI4A

LI2, FORMERLY

cui

C1832550

Gene Locus

2q34

Gene Symbol

ARCI4B

ABCA12

LI2

ICR2B

ARCI4A

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU037564

http://purl.bioontology.org/ontology/OMIM/MTHU000701

http://purl.bioontology.org/ontology/OMIM/MTHU038518

http://purl.bioontology.org/ontology/OMIM/MTHU037595

http://purl.bioontology.org/ontology/OMIM/MTHU038516

http://purl.bioontology.org/ontology/OMIM/MTHU038521

http://purl.bioontology.org/ontology/OMIM/MTHU038519

http://purl.bioontology.org/ontology/OMIM/MTHU038517

http://purl.bioontology.org/ontology/OMIM/MTHU038520

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

601277

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A

tui

T019

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http://purl.bioontology.org/ontology/MESH/C537264 Medical Subject Headings CUI