Maternal uniparental disomy of chromosome 2

disorder

SNOMED 766237006CUI C4707718

Overview

Maternal uniparental disomy of chromosome 2 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.

Abnormality of the amniotic fluid

Very frequent (80-99%)HP:0001560

Growth delay as children

Very frequent (80-99%)HP:0008897

Intrauterine growth retardation, IUGR

Very frequent (80-99%)HP:0001511

Abnormality of the ankle

Frequent (30-79%)HP:0003028

Contractures of the large joints

Frequent (30-79%)HP:0005781

Decreased amniotic fluid index

Frequent (30-79%)HP:0001562

Elevated amniotic fluid alpha-fetoglobulin

Frequent (30-79%)HP:0004639

Hypothyroidism

Frequent (30-79%)HP:0000821

Respiratory distress, neonatal

Frequent (30-79%)HP:0002643

Abnormal skeletal development

Occasional (5-29%)HP:0002652

Bilateral fifth digit clinodactyly

Occasional (5-29%)HP:0004209

C1-C2 vertebral abnormality

Occasional (5-29%)HP:0008440

Chordee

Occasional (5-29%)HP:0000041

Cryptorchidism, bilateral

Occasional (5-29%)HP:0008689

Decreased response to growth hormone stimulation test

Occasional (5-29%)HP:0000824

Dropped arches

Occasional (5-29%)HP:0001763

Hypospadias

Occasional (5-29%)HP:0000047

Immune deficiency

Occasional (5-29%)HP:0002721

Poorly developed lungs

Occasional (5-29%)HP:0002089

Preaxial hand polydactyly

Occasional (5-29%)HP:0001177

Premature birth

Occasional (5-29%)HP:0001622

Premature menopause

Occasional (5-29%)HP:0008209

Renal adysplasia

Occasional (5-29%)HP:0000110

Renal failure in adulthood

Occasional (5-29%)HP:0000083

Respiratory infections in early life

Occasional (5-29%)HP:0004880

Retinal degeneration

Occasional (5-29%)HP:0000546

Cognitive delay

Very rare (1-4%)HP:0001263

Related Conditions

Anomaly of chromosome pair 2(parent)

Uniparental disomy of maternal origin(parent)

Quick Facts

SNOMED CT: 766237006
UMLS CUI: C4707718
Fully Specified Name: Maternal uniparental disomy of chromosome 2 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 27

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.