Overview
Phakomatosis pigmentokeratotica 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.
Linear nevus sebaceous
Very frequent (80-99%)HP:0010817
Speckled lentiginous Nevus
Very frequent (80-99%)HP:0025510
Scoliosis
Frequent (30-79%)HP:0002650
Asymmetric limb shortening
Occasional (5-29%)HP:0100556
Basal cell nevus
Occasional (5-29%)HP:0002671
Hypophosphatemic rickets
Occasional (5-29%)HP:0004912
Neurodevelopmental delay
Occasional (5-29%)HP:0012758
Noncancerous mole
Occasional (5-29%)HP:0000995
Rhabdomyosarcoma
Occasional (5-29%)HP:0002859
Abnormal heart rate
Very rare (1-4%)HP:0011675
Alopecia areata
Very rare (1-4%)HP:0002232
Congenital dermal melanocytosis
Very rare (1-4%)HP:0100814
Cryptorchidism
Very rare (1-4%)HP:0000028
Cutaneous melanoma
Very rare (1-4%)HP:0012056
Fluid-filled sac located in membrane surrounding brain or spinal cord
Very rare (1-4%)HP:0100702
Glaucoma
Very rare (1-4%)HP:0000501
Hemangiomata
Very rare (1-4%)HP:0001028
Hemihypertrophy
Very rare (1-4%)HP:0001528
Hemiparesis
Very rare (1-4%)HP:0001269
Hyperesthesia
Very rare (1-4%)HP:0100963
Increased reflexes
Very rare (1-4%)HP:0001347
Lymphatic obstruction
Very rare (1-4%)HP:0001004
Nephroblastoma
Very rare (1-4%)HP:0002667
Notched pupil
Very rare (1-4%)HP:0000589
Pheochromocytoma
Very rare (1-4%)HP:0002666
Precocious puberty
Very rare (1-4%)HP:0000826
Profuse sweating
Very rare (1-4%)HP:0000975
Raynaud disease
Very rare (1-4%)HP:0030880
Renal transitional cell carcinoma
Very rare (1-4%)HP:0030409
Seizures
Very rare (1-4%)HP:0001250
Related Conditions
Quick Facts
- SNOMED CT
- 723455009
- UMLS CUI
- C2931658
- Fully Specified Name
- Phakomatosis pigmentokeratotica (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.