Paternal uniparental disomy of chromosome 1

disorder

SNOMED 766719006CUI C4707800

Overview

Paternal uniparental disomy of chromosome 1 is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormal blistering of the skin

Frequent (30-79%)HP:0008066

Abnormal retinal morphology on macular OCT

Frequent (30-79%)HP:0030612

Absence of pain sensation

Frequent (30-79%)HP:0007021

Brain degeneration

Frequent (30-79%)HP:0012444

Congenital hypotonia

Frequent (30-79%)HP:0001319

Craniosyostosis

Frequent (30-79%)HP:0001363

Decreased body height

Frequent (30-79%)HP:0004322

Decreased visual acuity, progressive

Frequent (30-79%)HP:0000529

Delayed puberty

Frequent (30-79%)HP:0000823

Dyschromatopsia

Frequent (30-79%)HP:0007641

Dystrophic tooth enamel

Frequent (30-79%)HP:0000682

Enlarged kidney

Frequent (30-79%)HP:0000105

Episodic hemolytic anaemia

Frequent (30-79%)HP:0004802

Frequent fractures

Frequent (30-79%)HP:0002757

High blood pressure

Frequent (30-79%)HP:0000822

Hypercalcemia

Frequent (30-79%)HP:0003072

Increased appetite

Frequent (30-79%)HP:0002591

Increased blood urea nitrogen

Frequent (30-79%)HP:0003138

Jerking

Frequent (30-79%)HP:0001336

Macroscopic hematuria

Frequent (30-79%)HP:0012587

Macular dystrophy

Frequent (30-79%)HP:0007754

MPGN

Frequent (30-79%)HP:0000793

Obesity

Frequent (30-79%)HP:0001513

Photophobia

Frequent (30-79%)HP:0000613

Progressive psychomotor deterioration

Frequent (30-79%)HP:0007272

Proteinuria

Frequent (30-79%)HP:0000093

Seizures

Frequent (30-79%)HP:0001250

Squint

Frequent (30-79%)HP:0000486

Sweating dysfunction

Frequent (30-79%)HP:0000970

Related Conditions

Anomaly of chromosome pair 1(parent)

Paternal uniparental disomy(parent)

Quick Facts

SNOMED CT: 766719006
UMLS CUI: C4707800
Fully Specified Name: Paternal uniparental disomy of chromosome 1 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 29

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.