autosomal recessive congenital ichthyosis 14

Summary
Definition
An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the SULT2B1 gene on chromosome 19q13.
Super Class
autosomal recessive congenital ichthyosis
External Links
Disease Ontology
DOID:0080258
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6820 SULT2B1 sulfotransferase family 2B member 1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 25 in total
HPO ID HPO Term
HP:0000083 Renal insufficiency
HP:0000164 Abnormality of the dentition
HP:0000232 Everted lower lip vermilion
HP:0000389 Chronic otitis media
HP:0000656 Ectropion
HP:0000958 Dry skin
HP:0000962 Hyperkeratosis
HP:0000989 Pruritus
HP:0001019 Erythroderma
HP:0001597 Abnormality of the nail
Displaying all 2 entries
Gene ID Gene Symbol Description
242 ALOX12B arachidonate 12-lipoxygenase, 12R type
6820 SULT2B1 sulfotransferase family 2B member 1

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024