Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Brachydactyly
Frequent (30-79%)HP:0001156
Decreased body height
Frequent (30-79%)HP:0004322
Ectopic bone formation
Frequent (30-79%)HP:0011986
Hypoplastic fourth metacarpal
Frequent (30-79%)HP:0010044
Hypoplastic/small little finger
Frequent (30-79%)HP:0009237
Round, full face
Frequent (30-79%)HP:0000311
Short 5th metacarpal
Frequent (30-79%)HP:0010047
Short long bone of foot
Frequent (30-79%)HP:0010743
Hypoplastic/small distal phalanx of the 3rd finger
Occasional (5-29%)HP:0004180
Intrauterine growth retardation, IUGR
Occasional (5-29%)HP:0001511
Nonprogressive mental retardation
Occasional (5-29%)HP:0001249
Obesity
Occasional (5-29%)HP:0001513
Osteoma cutis
Occasional (5-29%)HP:0025027
Short distal phalanx of the thumb
Occasional (5-29%)HP:0009650
Speech delay
Occasional (5-29%)HP:0000750
Cataract
HP:0000518
Concave bridge of nose
HP:0005280
Defective enamel matrix
HP:0006297
Delayed eruption of teeth
HP:0000684
Hypertrophy of cheeks
HP:0000293
Intellectual impairment
HP:0100543
Involuntary, rapid, rhythmic eye movements
HP:0000639
Osteoporosis
HP:0000939
Pseudohypoparathyroidism
HP:0000852
Short neck
HP:0000470
Shortened long bones of hand
HP:0010049
Quick Facts
- SNOMED CT
- 237659007
- UMLS CUI
- C0033835
- Fully Specified Name
- Pseudopseudohypoparathyroidism (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.