Severe early-onset obesity insulin resistance syndrome due to SH2B1 deficiency

disorder

SNOMED 783556000CUI C5190989

Overview

Severe early-onset obesity insulin resistance syndrome due to SH2B1 deficiency 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.

Decreased body height

Very frequent (80-99%)HP:0004322

Hyperinsulinemia

Very frequent (80-99%)HP:0000842

Increased appetite

Very frequent (80-99%)HP:0002591

Obesity

Very frequent (80-99%)HP:0001513

Reduced social responsiveness

Very frequent (80-99%)HP:0012760

No social interaction

Frequent (30-79%)HP:0008763

physical aggression

Frequent (30-79%)HP:0000718

Speech delay

Frequent (30-79%)HP:0000750

Related Conditions

Autosomal dominant hereditary disorder(parent)

Severe obesity(parent)

Genetic non-syndromic childhood obesity(parent)

Hereditary disorder of nervous system(parent)

Quick Facts

SNOMED CT: 783556000
UMLS CUI: C5190989
Fully Specified Name: Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 8

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.