Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Epidermal hyperkeratosis
Very frequent (80-99%)HP:0000962
Keratoderma
Very frequent (80-99%)HP:0000982
Mental deficiency
Very frequent (80-99%)HP:0001249
Scarring or clouding of the cornea of the eye
Very frequent (80-99%)HP:0007957
Amino acid levels abnormal
Frequent (30-79%)HP:0004337
Behavioral symptoms
Frequent (30-79%)HP:0000708
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Photophobia
Frequent (30-79%)HP:0000613
Sweating
Frequent (30-79%)HP:0000975
Abnormal nail morphology
Occasional (5-29%)HP:0001597
Abnormal vocalization
Occasional (5-29%)HP:0002167
Ataxia
Occasional (5-29%)HP:0001251
Decreased size of cranium
Occasional (5-29%)HP:0000252
Epilepsy
Occasional (5-29%)HP:0001250
Tremor
Occasional (5-29%)HP:0001337
Visual loss
Occasional (5-29%)HP:0000572
Zygomatic flattening
Occasional (5-29%)HP:0000272
4-Hydroxyphenylpyruvic aciduria
HP:0003161
Dendritic corneal epithelial ulcer
HP:0007812
Dermatopathy
HP:0000951
Elevated urine N-acetyltyrosine level
HP:6000479
Hypertyrosinemia
HP:0003231
Very poor growth
HP:0001510
Quick Facts
- SNOMED CT
- 4887000
- UMLS CUI
- C0268487
- Fully Specified Name
- Hypertyrosinemia, Richner-Hanhart type (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 23
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.