Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Hypoplasminogenemia
Always present (100%)HP:0040228
Large head
Always present (100%)HP:0000256
Nonsyndromal hydrocephalus
Always present (100%)HP:0000238
Pink eye
Always present (100%)HP:0000509
Dandy-Walker cyst
Frequent (30-79%)HP:0001305
Dilated cerebral ventricle
Frequent (30-79%)HP:0002119
Generalised decreased muscle tone
Frequent (30-79%)HP:0001290
Gum enlargement
Frequent (30-79%)HP:0000212
Small cerebellum
Frequent (30-79%)HP:0001321
Nephritis
Occasional (5-29%)HP:0000123
Abnormal thrombosis
Excluded (<1%)HP:0001977
Blindness
HP:0000618
Dermatopathy
HP:0000951
Duodenal ulcer
HP:0002588
Kidney stones
HP:0000787
Pyorrhea
HP:0000704
Recurrent URI
HP:0002788
Red and swollen gums
HP:0000230
Quick Facts
- SNOMED CT
- 403435005
- UMLS CUI
- C1274789
- Fully Specified Name
- Ligneous conjunctivitis (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 18
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.