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
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.