Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/621252
http://purl.bioontology.org/ontology/OMIM/621252
Preferred Name

CATARACT, ALOPECIA, ORAL MUCOSAL DISORDER, AND PSORIASIS-LIKE SYNDROME
Synonyms
CAOP SYNDROME
CAOP
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
CAOP SYNDROME
CAOP
prefLabel
CATARACT, ALOPECIA, ORAL MUCOSAL DISORDER, AND PSORIASIS-LIKE SYNDROME
Gene Symbol
S1P
MBTPS1
CAOP
SEDKF
Scope Statement
Based on a report of 2 unrelated patients (last curated June 2025) [MISCELLANEOUS]
Caused by mutation in the membrane-bound transcription factor protease, site 1 gene (MBTPS1, 603355.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU079846
http://purl.bioontology.org/ontology/OMIM/MTHU079844
http://purl.bioontology.org/ontology/OMIM/MTHU036684
http://purl.bioontology.org/ontology/OMIM/MTHU079842
http://purl.bioontology.org/ontology/OMIM/MTHU000185
http://purl.bioontology.org/ontology/OMIM/MTHU023612
http://purl.bioontology.org/ontology/OMIM/MTHU036378
http://purl.bioontology.org/ontology/OMIM/MTHU079845
http://purl.bioontology.org/ontology/OMIM/MTHU079843
http://purl.bioontology.org/ontology/OMIM/MTHU000702
http://purl.bioontology.org/ontology/OMIM/MTHU079840
http://purl.bioontology.org/ontology/OMIM/MTHU079838
http://purl.bioontology.org/ontology/OMIM/MTHU032969
http://purl.bioontology.org/ontology/OMIM/MTHU003051
http://purl.bioontology.org/ontology/OMIM/MTHU014750
http://purl.bioontology.org/ontology/OMIM/MTHU079839
http://purl.bioontology.org/ontology/OMIM/MTHU079841
http://purl.bioontology.org/ontology/OMIM/MTHU068425
http://purl.bioontology.org/ontology/OMIM/MTHU047290
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tui
T047
Gene Locus
16q24
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
621252
Semantic type UMLS property
Has inheritance type
cui
C6012743
OMIM Entry Type
3
OMIM MimType Value
pound
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