Overview
Mannosidosis 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.
Decreased circulating alpha-mannosidase activity
Always present (100%)HP:0034712
Cataract
Very frequent (80-99%)HP:0000518
Coarse face
Very frequent (80-99%)HP:0000280
Concave bridge of nose
Very frequent (80-99%)HP:0005280
Corneal opacity
Very frequent (80-99%)HP:0007957
Enlarged liver
Very frequent (80-99%)HP:0002240
Enlargement of craniofacial bones
Very frequent (80-99%)HP:0004493
Hypoacusis
Very frequent (80-99%)HP:0000365
Hypoplastic inferior ilia
Very frequent (80-99%)HP:0008821
Large spleen
Very frequent (80-99%)HP:0001744
Lingual hyperplasia
Very frequent (80-99%)HP:0000158
Mega cisterna magna
Very frequent (80-99%)HP:0002280
Mental-retardation
Very frequent (80-99%)HP:0001249
NIDDM
Very frequent (80-99%)HP:0005978
Retarded ossification
Very frequent (80-99%)HP:0002750
Skeletal dysplasia
Very frequent (80-99%)HP:0002652
Abnormal formation of the hip
Frequent (30-79%)HP:0001385
Atrophic cerebellum
Frequent (30-79%)HP:0001272
Behavioural/Psychiatric abnormality
Frequent (30-79%)HP:0000708
Bowed long bones
Frequent (30-79%)HP:0006487
Central hypotonia
Frequent (30-79%)HP:0001252
Cerebral cortex atrophy
Frequent (30-79%)HP:0002120
Chronic middle ear infection
Frequent (30-79%)HP:0000389
Generalized abnormality of skin
Frequent (30-79%)HP:0011354
Helix abnormal
Frequent (30-79%)HP:0011039
Hunched back
Frequent (30-79%)HP:0002808
Hyperplasia of supraorbital ridge
Frequent (30-79%)HP:0000336
Increased distance between eyes
Frequent (30-79%)HP:0000316
Inguinal hernia
Frequent (30-79%)HP:0000023
Macrotia
Frequent (30-79%)HP:0000400
Quick Facts
- SNOMED CT
- 65524005
- UMLS CUI
- C0024748
- Fully Specified Name
- Mannosidosis (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.