Experimental Factor Ontology
136 terms(s) returned
Term Type: | Record: 1 to 50 of 136 Records | Page: 1 of 3, First Previous Next Last | Show Records Per Page |
- P2Y12 defect
- PEHO-like syndrome
- PLCG2-associated antibody deficiency and immune dysregulation
- Pachydermoperiostosis
- Pachygyria - intellectual disability - epilepsy
- Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma
- Palpebral malignant melanoma
- Palpebral tumor
- Palpebral tumor with a vascular malformation
- Pancreatic hypoplasia - diabetes - congenital heart disease
- Pancreatic insufficiency - anemia - hyperostosis
- Papillon-Lefèvre syndrome
- Paraplegia - brachydactyly - cone-shaped epiphysis
- Paraplegia - intellectual disability - hyperkeratosis
- Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
- Paroxysmal exertion-induced dyskinesia
- Partial autosomal monosomy
- Partial autosomal trisomy/tetrasomy
- Partial bilateral aplasia of the Müllerian ducts
- Partial congenital cataract
- Partial deletion of the long arm of chromosome 1
- Partial deletion of the long arm of chromosome 18
- Partial deletion of the long arm of chromosome 22
- Partial deletion of the short arm of chromosome 12
- Partial deletion of the short arm of chromosome 18
- Partial deletion of the short arm of chromosome 4
- Partial deletion of the short arm of chromosome 9
- Partial duplication of the long arm of chromosome 11
- Partial duplication of the long arm of chromosome 13
- Partial monosomy of the short arm of chromosome 17
- Partial pancreatic agenesis
- Partial prune belly syndrome
- Partial trisomy of the short arm of chromosome 9
- Patent ductus arteriosus - bicuspid aortic valve - hand anomalies
- Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
- Pelizaeus-Merzbacher-like disease due to GJC2 mutation
- Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
- Pelvic dysplasia - arthrogryposis of lower limbs
- Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
- Peroxisomal beta-oxidation disorder
- Peroxisome biogenesis disorder-Zellweger syndrome spectrum
- Persistent Müllerian duct syndrome
- Peters anomaly - cataract
- Phakomatosis with eye involvement
- Phocomelia - ectrodactyly - deafness - sinus arrhythmia
- Phosphoserine aminotransferase deficiency
- Piebald trait - neurologic defects
- Pierre Robin syndrome - faciodigital anomaly
- Pierre Robin syndrome associated with a chromosomal anomaly
- Pierre Robin syndrome associated with bone disease