Concept Library | Search Phenotypes

Recessive X-Linked Ichthyosis (MONDO:0010622)

A genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.

Overview

Category

integumentary system disorder

Ontology ID

MONDO:0010622

Internal:11769

Synonyms

Ichthyosis, X Linked

RXLI

X-linked ichthyosis

X-linked recessive ichthyosis

XLI

ichthyosis (disease), X-linked

ichthyosis , X-linked, X-linked recessive

recessive X-linked ichthyosis

steroid sulfatase deficiency

SSDD

STS deficiency

X linked ichthyosis

ichthyosis, X-linked

ichthyosis, X-linked, complicated

placental steroid sulfatase deficiency

steroid sulfatase deficiency disease

Mapped terms

DECIPHER:27

DOID:1700

GARD:0007904

ICD10CM:Q80.1

MEDGEN:86937

MedDRA:10048063

NANDO:1200625

NCIT:C84779

NORD:1293

OMIM:308100

Orphanet:461

SCTID:3944006

UMLS:C0079588

icd11.foundation:1466487054

Child terms

MONDO:0010223

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