Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Pseudohypoparathyroidism
Always present (100%)HP:0000852
Subcutaneous ossification
Always present (100%)HP:0034282
Decreased body height
Very frequent (80-99%)HP:0004322
Hyperphosphatemia
Very frequent (80-99%)HP:0002905
Increased serum parathyroid hormone
Very frequent (80-99%)HP:0003165
Low blood calcium levels
Very frequent (80-99%)HP:0002901
Low urinary cyclic AMP response to PTH administration
Very frequent (80-99%)HP:0003456
Pituitary resistance to thyroid hormone
Very frequent (80-99%)HP:0008227
Basal ganglion calcification
Frequent (30-79%)HP:0002135
Brachydactyly
Frequent (30-79%)HP:0001156
Broad 1st metacarpal
Frequent (30-79%)HP:0010027
Cataract
Frequent (30-79%)HP:0000518
Choroid plexus calcification
Frequent (30-79%)HP:0006960
Chubby cheeks
Frequent (30-79%)HP:0000293
Constrictive median neuropathy
Frequent (30-79%)HP:0012185
Decreased response to growth hormone stimulation test
Frequent (30-79%)HP:0000824
Delayed eruption of teeth
Frequent (30-79%)HP:0000684
Ectopic bone formation
Frequent (30-79%)HP:0011986
Enamel, underdeveloped
Frequent (30-79%)HP:0006297
Flat nasal bridge
Frequent (30-79%)HP:0005280
Hypoplastic fourth metacarpal
Frequent (30-79%)HP:0010044
Hypoplastic/small little finger
Frequent (30-79%)HP:0009237
Hypothyroidism
Frequent (30-79%)HP:0000821
Increased appetite
Frequent (30-79%)HP:0002591
Increased bone mineral density
Frequent (30-79%)HP:0011001
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Obesity
Frequent (30-79%)HP:0001513
Round, full face
Frequent (30-79%)HP:0000311
Short 5th metacarpal
Frequent (30-79%)HP:0010047
Short fifth metatarsal
Frequent (30-79%)HP:0004704
Related Conditions
Acromesomelic dysplasia syndrome(parent)
Pseudohypoparathyroidism(parent)
Metabolic bone disease(parent)
Autosomal dominant hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Hereditary disorder of endocrine system(parent)
Developmental hereditary disorder(parent)
Genetic syndromic childhood obesity(parent)
Quick Facts
- SNOMED CT
- 58833000
- UMLS CUI
- C0033835
- Fully Specified Name
- Pseudohypoparathyroidism type I A (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.