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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
autosomal recessive congenital ichthyosis +  
blue cone monochromacy 
Brunner syndrome 
cholesterol metabolism disease +  
congenital cataract-ichthyosis syndrome 
hypophosphatemic rickets, X-linked recessive 
ichthyosis hystrix +  
ichthyosis linearis circumflexa 
ichthyosis vulgaris +  
ichthyosis with erythrokeratoderma 
ichthyosis-oral and digital anomalies syndrome 
IFAP syndrome +  
IFAP syndrome 1, with or without BRESHECK syndrome 
inborn disorder of bile acid synthesis +  
keratinopathic ichthyosis +  
neonatal ichthyosis-sclerosing cholangitis syndrome 
Netherton syndrome 
Paganini-Miozzo syndrome 
peeling skin syndrome +  
recessive X-linked ichthyosis 
A genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.
sterol biosynthesis disorder +  
X-linked complicated spastic paraplegia type 1 
X-linked recessive mitochondrial myopathy 
X-linked recessive ocular albinism 

Synonyms
Exact Synonyms: RXLI ;   X-linked ichthyosis with steryl-sulphatase deficiency ;   X-linked placental steryl-sulphatase deficiency ;   XLI ;   ichthyosis (disease), X-linked ;   ichthyosis , X-linked, X-linked recessive ;   steroid sulfatase deficiency
Related Synonyms: SSDD ;   STS deficiency ;   X linked ichthyosis ;   ichthyosis, X-linked, complicated ;   placental steroid sulfatase deficiency ;   steroid sulfatase deficiency disease
Alternate IDs: MONDO:0010622
Xrefs: DECIPHER:27 ;   DOID:1700 ;   GARD:7904 ;   MEDGEN:86937 ;   MIM:308100 ;   MedDRA:10048063 ;   NANDO:1200625 ;   NCI:C84779 ;   NORD:1293 ;   ORDO:461 ;   SCTID:3944006 ;   UMLS:C0079588 ;   icd11.foundation:1466487054
Definition Sources: Orphanet:461

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