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MYH9 related disease

disorder
SNOMED 712922002CUI C5200934

Overview

MYH9 related disease 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.

Dysmegakaryopoiesis
Always present (100%)HP:0031689
Impaired ADP-induced platelet aggregation
Always present (100%)HP:0004866
Impaired epinephrine-induced platelet aggregation
Always present (100%)HP:0008148
Leukocyte inclusion bodies
Always present (100%)HP:0040235
Low platelet count
Always present (100%)HP:0001873
Macrothrombocytopenia
Always present (100%)HP:0040185
Congenital thrombocytopenia
Very frequent (80-99%)HP:0001905
Elevated serum transaminases
Frequent (30-79%)HP:0002910
Giant platelets
Frequent (30-79%)HP:0001902
Hypermenorrhea
Frequent (30-79%)HP:0000132
Increased bleeding time
Frequent (30-79%)HP:0003010
Kidney disease
Frequent (30-79%)HP:0000112
Large platelets
Frequent (30-79%)HP:0011877
Nephritis
Frequent (30-79%)HP:0000123
Neutrophil inclusion bodies
Frequent (30-79%)HP:0008264
Presenile cataracts
Frequent (30-79%)HP:0007819
Proteinuria
Frequent (30-79%)HP:0000093
Renal failure
Frequent (30-79%)HP:0000083
Sensorineural deafness
Frequent (30-79%)HP:0000407
Spontaneous, recurrent nosebleed
Frequent (30-79%)HP:0004406
Myocardial infarction
Very rare (1-4%)HP:0001658
Abnormal thrombosis
HP:0001977
Bleeding tendency
HP:0001892
Bruising susceptibility
HP:0000978
Nasal hemorrhage
HP:0000421
Renal anomalies
Excluded (<1%)HP:0000077

Quick Facts

SNOMED CT
712922002
UMLS CUI
C5200934
Fully Specified Name
Myosin heavy chain 9 non muscle related disease (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
26
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.