Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome

disorder

SNOMED 764995008CUI C4014987

Overview

Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation 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.

Decreased body height

Always present (100%)HP:0004322

Delayed eruption of teeth

Always present (100%)HP:0000684

Dystrophic nails

Always present (100%)HP:0008404

Epidermal hyperplasia

Always present (100%)HP:0025092

Keratoderma

Always present (100%)HP:0000982

Missing between one and six teeth

Always present (100%)HP:0000668

Thin dental enamel

Always present (100%)HP:0006297

Bronchial asthma

Frequent (30-79%)HP:0002099

Deglutition disorder

Frequent (30-79%)HP:0002015

Esophageal stricture

Frequent (30-79%)HP:0002043

Sensorineural deafness

Frequent (30-79%)HP:0000407

Anonychia

HP:0001798

Epidermal hyperkeratosis

HP:0000962

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Melanin pigmentation of oral mucosa(parent)

Small stature(parent)

Ectodermal dysplasia with tooth-nail defects(parent)

Hereditary palmoplantar keratoderma(parent)

Melanosis of mucosa of body orifice(parent)

Congenital melanosis(parent)

Congenital anomaly of oral mucosa(parent)

Genetic disorder of nail(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of tooth(parent)

Quick Facts

SNOMED CT: 764995008
UMLS CUI: C4014987
Fully Specified Name: Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 13

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.