Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Absent/small iris
Very frequent (80-99%)HP:0008053
Aniridia
Very frequent (80-99%)HP:0000526
Abnormal vagina morphology
Frequent (30-79%)HP:0000142
Cryptorchidism
Frequent (30-79%)HP:0000028
Decreased body height
Frequent (30-79%)HP:0004322
Decreased projection of lower jaw
Frequent (30-79%)HP:0000347
Decreased size of cranium
Frequent (30-79%)HP:0000252
Displacement of the external urethral orifice
Frequent (30-79%)HP:0100627
Eye drop
Frequent (30-79%)HP:0000508
Hearing abnormality
Frequent (30-79%)HP:0000364
Hypospadias
Frequent (30-79%)HP:0000047
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Lens opacities
Frequent (30-79%)HP:0000518
Low intelligence
Frequent (30-79%)HP:0001249
Nephroblastoma
Frequent (30-79%)HP:0002667
Poor vision
Frequent (30-79%)HP:0000505
Protruding lower lip
Frequent (30-79%)HP:0000232
Streak ovary
Frequent (30-79%)HP:0010464
Abnormality of the uterus
Occasional (5-29%)HP:0000130
Ambiguous external genitalia
Occasional (5-29%)HP:0000062
Dysfunction of lateral corticospinal tracts
Occasional (5-29%)HP:0007299
Glaucoma
Occasional (5-29%)HP:0000501
Gonadoblastoma
Occasional (5-29%)HP:0000150
Obesity
Occasional (5-29%)HP:0001513
Renal insufficiency
Occasional (5-29%)HP:0000083
Scoliosis
Occasional (5-29%)HP:0002650
Kidney disease
HP:0000112
Quick Facts
- SNOMED CT
- 4135001
- UMLS CUI
- C0206115
- Fully Specified Name
- 11p partial monosomy syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 27
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.