Adams-Oliver syndrome

Summary
Synonym
  • Adams Oliver syndrome
Definition
A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs.
Super Class
syndrome
External Links
Disease Ontology
DOID:0060227
Mondo Disease Ontology
UMLS
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
285203 EOGT EGF domain specific O-linked N-acetylglucosamine transferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
101351 Eogt EGF domain specific O-linked N-acetylglucosamine transferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
494219 Eogt EGF domain specific O-linked N-acetylglucosamine transferase
Displaying all 2 entries
Gene ID Gene Symbol Description Source
31293 N Notch
33424 Eogt EGF-domain O-GlcNAc transferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
798087 eogt EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
443983 eogt.L EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase L homeolog Xenopus laevis (African clawed frog)
780148 eogt EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase Xenopus tropicalis (tropical clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
179990 H12D21.10 EGF domain-specific O-linked N-acetylglucosamine transferase;Heparan N-sulfatase
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 21 - 30 of 58 in total
HPO ID HPO Term
HP:0001641 Abnormal pulmonary valve morphology
HP:0001804 Hypoplastic fingernail
HP:0001817 Absent fingernail
HP:0001873 Thrombocytopenia
HP:0001882 Leukopenia
HP:0001883 Talipes
HP:0002040 Esophageal varix
HP:0002084 Encephalocele
HP:0002092 Pulmonary arterial hypertension
HP:0002132 Porencephalic cyst
Displaying 1 entry
Gene ID Gene Symbol Description
285203 EOGT EGF domain specific O-linked N-acetylglucosamine transferase

About Release Notes Help Feedback

Click here to visit the beta site.


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