Aniridia, ptosis, intellectual disability, familial obesity syndrome

disorder

SNOMED 720987001CUI C4303736

Overview

Aniridia, ptosis, intellectual disability, familial obesity syndrome 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.

Absent/small iris

Very frequent (80-99%)HP:0008053

Eyelid ptosis

Very frequent (80-99%)HP:0000508

Low intelligence

Very frequent (80-99%)HP:0001249

Near sighted

Very frequent (80-99%)HP:0000545

Persistent pupillary membrane

Very frequent (80-99%)HP:0009917

Poor vision

Very frequent (80-99%)HP:0000505

Scarring or clouding of the cornea of the eye

Very frequent (80-99%)HP:0007957

Cardiac anomaly

Occasional (5-29%)HP:0001627

Cataract

Occasional (5-29%)HP:0000518

Hair loss

Occasional (5-29%)HP:0001596

Hypopigmentation of hair

Occasional (5-29%)HP:0005599

Related Conditions

Autosomal dominant hereditary disorder(parent)

Aniridia(parent)

Multiple system malformation syndrome(parent)

Hereditary disorder of the visual system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 720987001
UMLS CUI: C4303736
Fully Specified Name: Aniridia, ptosis, intellectual disability, familial obesity syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 11

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.