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 11 - 20 of 58 in total
HPO ID HPO Term
HP:0001269 Hemiparesis
HP:0001276 Hypertonia
HP:0001362 Calvarial skull defect
HP:0001394 Cirrhosis
HP:0001409 Portal hypertension
HP:0001508 Failure to thrive
HP:0001541 Ascites
HP:0001596 Alopecia
HP:0001622 Premature birth
HP:0001636 Tetralogy of Fallot
Displaying 1 entry
Gene ID Gene Symbol Description
285203 EOGT EGF domain specific O-linked N-acetylglucosamine transferase

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Last updated: August 19, 2024