Mannosidosis

disorder

SNOMED 65524005CUI C0024748

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

Abnormal skeletal development

Very frequent (80-99%)HP:0002652

Coarse face

Very frequent (80-99%)HP:0000280

Deafness

Very frequent (80-99%)HP:0000365

Depressed nasal root/bridge

Very frequent (80-99%)HP:0005280

Enlarged liver

Very frequent (80-99%)HP:0002240

Hypoplastic inferior ilia

Very frequent (80-99%)HP:0008821

Large cisterna magna

Very frequent (80-99%)HP:0002280

Large spleen

Very frequent (80-99%)HP:0001744

Lens opacities

Very frequent (80-99%)HP:0000518

Lingual hyperplasia

Very frequent (80-99%)HP:0000158

Mental deficiency

Very frequent (80-99%)HP:0001249

NIDDM

Very frequent (80-99%)HP:0005978

Retarded ossification

Very frequent (80-99%)HP:0002750

Scarring or clouding of the cornea of the eye

Very frequent (80-99%)HP:0007957

Thick craniofacial bones

Very frequent (80-99%)HP:0004493

Abnormal formation of the hip

Frequent (30-79%)HP:0001385

Atrophic cerebellum

Frequent (30-79%)HP:0001272

Behavioral changes

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

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Generalized abnormality of skin

Frequent (30-79%)HP:0011354

Gingival overgrowth

Frequent (30-79%)HP:0000212

Helix abnormal

Frequent (30-79%)HP:0011039

Hunched back

Frequent (30-79%)HP:0002808

Hyperplasia of supraorbital margins

Frequent (30-79%)HP:0000336

Increased distance between eyes

Frequent (30-79%)HP:0000316

Related Conditions

Mannosidosis, type II(child)

Mannosidosis, type I(child)

Recessive hereditary disorder (autosomal)(parent)

Dysostosis multiplex group(parent)

Oligosaccharidosis(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

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.