Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal metacarpal morphology
Very frequent (80-99%)HP:0005916
Abnormality of the eyelids
Very frequent (80-99%)HP:0000492
Abnormality of vision
Very frequent (80-99%)HP:0000504
Coarse hair texture
Very frequent (80-99%)HP:0002208
Congenital craniofacial dysostosis
Very frequent (80-99%)HP:0008497
Craniosynostosis of coronal suture
Very frequent (80-99%)HP:0004440
Decreased body height
Very frequent (80-99%)HP:0004322
Dental problems
Very frequent (80-99%)HP:0000164
Distal phalangeal hypoplasia
Very frequent (80-99%)HP:0009882
Eye disease
Very frequent (80-99%)HP:0000478
Foot deformity
Very frequent (80-99%)HP:0001760
Generalized hirsutism
Very frequent (80-99%)HP:0002230
Hearing loss, conductive
Very frequent (80-99%)HP:0000405
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Involuntary, rapid, rhythmic eye movements
Very frequent (80-99%)HP:0000639
Low anterior hairline
Very frequent (80-99%)HP:0000294
Missing more than six teeth
Very frequent (80-99%)HP:0000677
Underdeveloped brows
Very frequent (80-99%)HP:0009891
Wide skull shape
Very frequent (80-99%)HP:0000248
Abnormal curving of the cornea or lens of the eye
Frequent (30-79%)HP:0000483
Abnormality of the skull bones
Frequent (30-79%)HP:0000929
Aplasia/Hypoplasia of the nasal bone
Frequent (30-79%)HP:0010940
Deficiency of upper jaw bones
Frequent (30-79%)HP:0000327
Hardening of skin and connective tissue
Frequent (30-79%)HP:0000647
PDA
Frequent (30-79%)HP:0001643
Umbilical hernia
Frequent (30-79%)HP:0001537
Mental retardation, mild
Occasional (5-29%)HP:0001256
Upper eyelid coloboma
Occasional (5-29%)HP:0000636
Quick Facts
- SNOMED CT
- 205800003
- UMLS CUI
- C5848089
- Fully Specified Name
- Gorlin-Chaudhry-Moss syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 28
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.