Gorlin syndrome

disorder

SNOMED 69408002CUI C0004779

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.

Abnormal deposits of calcium in the brain

Very frequent (80-99%)HP:0002514

Abnormal tissue mass

Very frequent (80-99%)HP:0002664

Noncancerous mole

Very frequent (80-99%)HP:0000995

Palmar pits

Very frequent (80-99%)HP:0010610

Plantar pits

Very frequent (80-99%)HP:0010612

anterior wedging

Frequent (30-79%)HP:0008422

Anteriorly splayed ribs

Frequent (30-79%)HP:0000907

Basal cell nevus

Frequent (30-79%)HP:0002671

Broad flat nasal bridge

Frequent (30-79%)HP:0000431

Calcification of falx cerebri

Frequent (30-79%)HP:0005462

Cleft ribs

Frequent (30-79%)HP:0000892

Deformity of the neck

Frequent (30-79%)HP:0000464

Large head

Frequent (30-79%)HP:0000256

Odontogenic keratocysts of the jaw

Frequent (30-79%)HP:0010603

Rib anomalies

Frequent (30-79%)HP:0000772

Rib fusion

Frequent (30-79%)HP:0000902

Scoliosis

Frequent (30-79%)HP:0002650

Vertebral body fusion

Frequent (30-79%)HP:0002948

Abnormality of the sense of smell

Occasional (5-29%)HP:0004408

Arachnodactyly

Occasional (5-29%)HP:0001166

Bridged sella turcica

Occasional (5-29%)HP:0005449

Cataract

Occasional (5-29%)HP:0000518

Cleft lip, cleft palate

Occasional (5-29%)HP:0000202

Cryptorchidism

Occasional (5-29%)HP:0000028

Dental cavities

Occasional (5-29%)HP:0000670

Frontal protuberance

Occasional (5-29%)HP:0002007

Glaucoma

Occasional (5-29%)HP:0000501

Hemivertebra

Occasional (5-29%)HP:0002937

Increased distance between eyes

Occasional (5-29%)HP:0000316

Increased intercanthal distance

Occasional (5-29%)HP:0000506

Related Conditions

Hereditary disorder of the integument(parent)

Basal cell carcinoma of skin(parent)

Autosomal dominant hereditary disorder(parent)

Hereditary neoplastic syndrome(parent)

Quick Facts

SNOMED CT: 69408002
UMLS CUI: C0004779
Fully Specified Name: Gorlin 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.