Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal compact bone morphology
Very frequent (80-99%)HP:0003103
Abnormal metaphysis morphology
Very frequent (80-99%)HP:0000944
Abnormal tibia morphology
Very frequent (80-99%)HP:0002992
Abnormal vertebral bodies
Very frequent (80-99%)HP:0003312
Abnormality of immune system physiology
Very frequent (80-99%)HP:0010978
Abnormality of pelvic girdle bone morphology
Very frequent (80-99%)HP:0002644
Abnormality of the thighbone
Very frequent (80-99%)HP:0002823
Bowed long bones
Very frequent (80-99%)HP:0006487
Decreased haemoglobin
Very frequent (80-99%)HP:0001903
Hypertrophy of craniofacial bones
Very frequent (80-99%)HP:0004493
Thickening of shaft or central part of long bones
Very frequent (80-99%)HP:0005019
Thick inner surface of the skull bones
Frequent (30-79%)HP:0005890
Abnormal vocalization
Occasional (5-29%)HP:0002167
Large spleen
Occasional (5-29%)HP:0001744
Leukopenia
Occasional (5-29%)HP:0001882
Diaphyseal dysplasia
HP:0100252
Hypoplastic bone marrow
HP:0005528
Increased bone mineral density
HP:0011001
Low platelet count
HP:0001873
Myelofibrosis
HP:0011974
Refractory anemia
HP:0005505
Related Conditions
Congenital anemia(parent)
Congenital anomaly of skeletal bone(parent)
Dysplasia with increased bone density(parent)
Developmental hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Hereditary disorder of cellular element of blood(parent)
Recessive hereditary disorder (autosomal)(parent)
Abnormality of diaphysis morphology(parent)
Quick Facts
- SNOMED CT
- 389214003
- UMLS CUI
- C1856465
- Fully Specified Name
- Ghosal hematodiaphyseal dysplasia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 21
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.