Overview
Dermatoosteolysis Kirghizian type 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.
Abnormal hands
Very frequent (80-99%)HP:0001155
Abnormal metaphysis morphology
Very frequent (80-99%)HP:0000944
Abnormal shape of shaft of long bone
Very frequent (80-99%)HP:0000940
Abnormality of the feet
Very frequent (80-99%)HP:0001760
Abnormality of the wrist
Very frequent (80-99%)HP:0003019
Aplasia/Hypoplasia of the skin
Very frequent (80-99%)HP:0008065
Arthralgias
Very frequent (80-99%)HP:0002829
Brachydactyly
Very frequent (80-99%)HP:0001156
Breakdown of bone
Very frequent (80-99%)HP:0002797
Corneal inflammation
Very frequent (80-99%)HP:0000491
Dystrophic fingernails
Very frequent (80-99%)HP:0008391
Dystrophic toenails
Very frequent (80-99%)HP:0001810
Night blindness
Very frequent (80-99%)HP:0000662
Open skin sore
Very frequent (80-99%)HP:0200042
Osteoarthritis
Very frequent (80-99%)HP:0002758
Partial anodontia
Very frequent (80-99%)HP:0000677
Pyrexia
Very frequent (80-99%)HP:0001945
Scoliosis
Very frequent (80-99%)HP:0002650
Tarsal bone synostosis
Very frequent (80-99%)HP:0008368
Nail disease
Frequent (30-79%)HP:0001597
Dental problems
Occasional (5-29%)HP:0000164
Related Conditions
Recessive hereditary disorder (autosomal)(parent)
Ectodermal dysplasia with tooth-nail defects(parent)
Hereditary disorder of the integument(parent)
Hereditary disorder of musculoskeletal system(parent)
Congenital anomaly of joint(parent)
Genetic disorder of nail(parent)
Developmental hereditary disorder(parent)
Hereditary disorder of tooth(parent)
Degenerative disorder of musculoskeletal system(parent)
Quick Facts
- SNOMED CT
- 721090002
- UMLS CUI
- C1857301
- Fully Specified Name
- Dermatoosteolysis Kirghizian type (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.