DOORS syndrome

disorder

SNOMED 719800009CUI C0795934

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

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

Hypoplastic toenails

Always present (100%)HP:0001800

Polyneuropathy

Always present (100%)HP:0001271

Sensorineural deafness

Always present (100%)HP:0000407

Small fingernail

Always present (100%)HP:0001804

Abnormal toenail development

Very frequent (80-99%)HP:0100797

Abnormal toenail morphology

Very frequent (80-99%)HP:0008388

Abnormalities of the fingers

Very frequent (80-99%)HP:0001167

Abnormalities of the toes

Very frequent (80-99%)HP:0001780

Abnormality of the fingernails

Very frequent (80-99%)HP:0001231

Anonychia of fingernails

Very frequent (80-99%)HP:0001817

Broad flat nasal bridge

Very frequent (80-99%)HP:0000431

Electroencephalogram abnormal

Very frequent (80-99%)HP:0002353

Epilepsy

Very frequent (80-99%)HP:0001250

Gum enlargement

Very frequent (80-99%)HP:0000212

Increased length of philtrum

Very frequent (80-99%)HP:0000343

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Nostrils anteverted

Very frequent (80-99%)HP:0000463

Wide nasal base

Very frequent (80-99%)HP:0012810

Absent/underdeveloped bones of 2nd toe

Frequent (30-79%)HP:0010347

Bulbous nose

Frequent (30-79%)HP:0000414

Coarse face

Frequent (30-79%)HP:0000280

Complex partial seizures

Frequent (30-79%)HP:0002384

Decreased volume of upper lip

Frequent (30-79%)HP:0000219

Distal phalangeal hypoplasia

Frequent (30-79%)HP:0009882

Downturned corners of mouth

Frequent (30-79%)HP:0002714

Full lower lip

Frequent (30-79%)HP:0000179

Generalized tonic-clonic seizure (without specification of onset)

Frequent (30-79%)HP:0002069

Hydramnios

Frequent (30-79%)HP:0001561

Hypoplastic/small little finger

Frequent (30-79%)HP:0009237

Hyporeflexia

Frequent (30-79%)HP:0001265

Related Conditions

Multiple system malformation syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of musculoskeletal system(parent)

Congenital osteodystrophy(parent)

Congenital anomaly of skeletal bone(parent)

Deafness with onychodystrophy syndrome(parent)

Quick Facts

SNOMED CT: 719800009
UMLS CUI: C0795934
Fully Specified Name: Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.