Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B
Synonyms

HI
ID

http://purl.bioontology.org/ontology/OMIM/242500
altLabel

HI

'HARLEQUIN FETUS'

ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE

HARLEQUIN ICHTHYOSIS

ARCI4B
cui

C0239849

C0598226
Gene Locus

2q34
Gene Symbol

ARCI4B

ABCA12

LI2

ICR2B

ARCI4A
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU019358

http://purl.bioontology.org/ontology/OMIM/MTHU037598

http://purl.bioontology.org/ontology/OMIM/MTHU037586

http://purl.bioontology.org/ontology/OMIM/MTHU037588

http://purl.bioontology.org/ontology/OMIM/MTHU037591

http://purl.bioontology.org/ontology/OMIM/MTHU037602

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

http://purl.bioontology.org/ontology/OMIM/MTHU037593

http://purl.bioontology.org/ontology/OMIM/MTHU037596

http://purl.bioontology.org/ontology/OMIM/MTHU037600

http://purl.bioontology.org/ontology/OMIM/MTHU037565

http://purl.bioontology.org/ontology/OMIM/MTHU037589

http://purl.bioontology.org/ontology/OMIM/MTHU037587

http://purl.bioontology.org/ontology/OMIM/MTHU002595

http://purl.bioontology.org/ontology/OMIM/MTHU037601

http://purl.bioontology.org/ontology/OMIM/MTHU037592

http://purl.bioontology.org/ontology/OMIM/MTHU037597

http://purl.bioontology.org/ontology/OMIM/MTHU037599

http://purl.bioontology.org/ontology/OMIM/MTHU037603

http://purl.bioontology.org/ontology/OMIM/MTHU037590

http://purl.bioontology.org/ontology/OMIM/MTHU037594
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

242500
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C538424 Medical Subject Headings CUI
http://purl.bmicc.cn/ontology/ICD10CN/Q80.4 International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/ICD10CM/Q80.4 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/ICD10/Q80.4 International Classification of Diseases, Version 10 CUI
http://purl.bioontology.org/ontology/MESH/D017490 Medical Subject Headings CUI