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 31 - 40 of 58 in total
HPO ID HPO Term
HP:0002239 Gastrointestinal hemorrhage
HP:0002353 EEG abnormality
HP:0002612 Congenital hepatic fibrosis
HP:0002814 Abnormality of the lower limb
HP:0002817 Abnormality of the upper limb
HP:0004050 Absent hand
HP:0004935 Pulmonary artery atresia
HP:0005916 Abnormal metacarpal morphology
HP:0006101 Finger syndactyly
HP:0006970 Periventricular leukomalacia
Displaying 1 entry
Gene ID Gene Symbol Description
285203 EOGT EGF domain specific O-linked N-acetylglucosamine transferase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024