Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1

Synonyms

LI1, FORMERLY

ID

http://purl.bioontology.org/ontology/OMIM/242300

altLabel

LI1, FORMERLY

COLLODION FETUS

COLLODION BABY, SELF-HEALING

SHCB

ARCI1

LAMELLAR EXFOLIATION OF NEWBORN

DESQUAMATION OF NEWBORN

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION

ICR2

ICHTHYOSIS, LAMELLAR, 1, FORMERLY

ICHTHYOSIS CONGENITA

ICHTHYOSIS CONGENITA II

cui

C3536797

C3543867

C1855789

C0020758

Gene Locus

14q11.2

Gene Symbol

ARCI1

TGM1

ICR2

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU037566

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

http://purl.bioontology.org/ontology/OMIM/MTHU036311

http://purl.bioontology.org/ontology/OMIM/MTHU037568

http://purl.bioontology.org/ontology/OMIM/MTHU037578

http://purl.bioontology.org/ontology/OMIM/MTHU037573

http://purl.bioontology.org/ontology/OMIM/MTHU037576

http://purl.bioontology.org/ontology/OMIM/MTHU037574

http://purl.bioontology.org/ontology/OMIM/MTHU037583

http://purl.bioontology.org/ontology/OMIM/MTHU037571

http://purl.bioontology.org/ontology/OMIM/MTHU037581

http://purl.bioontology.org/ontology/OMIM/MTHU031126

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

http://purl.bioontology.org/ontology/OMIM/MTHU037575

http://purl.bioontology.org/ontology/OMIM/MTHU037563

http://purl.bioontology.org/ontology/OMIM/MTHU037569

http://purl.bioontology.org/ontology/OMIM/MTHU037567

http://purl.bioontology.org/ontology/OMIM/MTHU037572

http://purl.bioontology.org/ontology/OMIM/MTHU037585

http://purl.bioontology.org/ontology/OMIM/MTHU037570

http://purl.bioontology.org/ontology/OMIM/MTHU037579

http://purl.bioontology.org/ontology/OMIM/MTHU037577

http://purl.bioontology.org/ontology/OMIM/MTHU037580

http://purl.bioontology.org/ontology/OMIM/MTHU037584

http://purl.bioontology.org/ontology/OMIM/MTHU037582

http://purl.bioontology.org/ontology/OMIM/MTHU029315

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

242300

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1

tui

T019

T047

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