Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

ICHTHYOSIS, X-LINKED
Synonyms

PLACENTAL STEROID SULFATASE DEFICIENCY
ID

http://purl.bioontology.org/ontology/OMIM/308100
altLabel

PLACENTAL STEROID SULFATASE DEFICIENCY

STEROID SULFATASE DEFICIENCY

SSDD

STEROID SULFATASE DEFICIENCY DISEASE

ICHTHYOSIS, X-LINKED, COMPLICATED

XLI

STS DEFICIENCY
cui

C2677713

C0079588

C2720163

C2717836
Gene Locus

Xp22.32
Gene Symbol

STS

ARSC1

XLI

ARSC

SSDD
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU022649

http://purl.bioontology.org/ontology/OMIM/MTHU022656

http://purl.bioontology.org/ontology/OMIM/MTHU022659

http://purl.bioontology.org/ontology/OMIM/MTHU022644

http://purl.bioontology.org/ontology/OMIM/MTHU022646

http://purl.bioontology.org/ontology/OMIM/MTHU022654

http://purl.bioontology.org/ontology/OMIM/MTHU022650

http://purl.bioontology.org/ontology/OMIM/MTHU028910

http://purl.bioontology.org/ontology/OMIM/MTHU000702

http://purl.bioontology.org/ontology/OMIM/MTHU045827

http://purl.bioontology.org/ontology/OMIM/MTHU022648

http://purl.bioontology.org/ontology/OMIM/MTHU000066

http://purl.bioontology.org/ontology/OMIM/MTHU022647

http://purl.bioontology.org/ontology/OMIM/MTHU022653

http://purl.bioontology.org/ontology/OMIM/MTHU022651

http://purl.bioontology.org/ontology/OMIM/MTHU022645

http://purl.bioontology.org/ontology/OMIM/MTHU022643

http://purl.bioontology.org/ontology/OMIM/MTHU022655
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

308100
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

ICHTHYOSIS, X-LINKED
tui

T047
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http://purl.bioontology.org/ontology/MESH/D016114 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D016114 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D016114 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D016114 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q80.1 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/ICD10/Q80.1 International Classification of Diseases, Version 10 CUI
http://purl.bmicc.cn/ontology/ICD10CN/Q80.1 International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/MESH/C567443 Medical Subject Headings CUI