Experimental Factor Ontology
1134 terms(s) returned
| Term Type: | Record: 1 to 50 of 1134 Records | Page: 1 of 23, First Previous Next Last | Show Records Per Page |
- P5CS deficiency
- PAGOD syndrome
- PALB2-related cancer predisposition
- PARC syndrome
- PAX6-related ocular dysgenesis
- PBRM1-related BAFopathy
- PCARE-related retinopathy
- PCWH syndrome
- PDA1
- PDE6A-related retinopathy
- PEHO syndrome
- PENS syndrome
- PFAPA syndrome
- PGM1-congenital disorder of glycosylation
- PHACE syndrome
- PHARC syndrome
- PHAVER syndrome
- PHGDH deficiency
- PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
- PI4KA-related disorder
- PIK3CA-related overgrowth spectrum
- PIK3R1-related immunodeficiency and SHORT syndrome
- PIK3R2-related overgrowth spectrum
- PIP5K1C-related neurodevelopmental disorder
- PLA2G6-associated neurodegeneration
- PLD1-related congenital heart disease
- PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder
- PLIN1-related familial partial lipodystrophy
- PMM2-congenital disorder of glycosylation
- PMP22-RAI1 contiguous gene duplication syndrome
- PNPLA6-related spastic paraplegia with or without ataxia
- POLD3-related combined immunodeficiency
- POLE-related polyposis and colorectal cancer syndrome
- POLR-related leukodystrophy
- POLR1C-related disorder
- POLR3-related leukodystrophy
- POLR3A-related disorder
- POLR3B-related disorder
- PPARG-related familial partial lipodystrophy
- PPP2R1A-related intellectual disability
- PRKAG2-related cardiomyopathy
- PROM1-related dominant retinopathy
- PROM1-related recessive retinopathy
- PROM1-related retinopathy
- PRPH2-related retinopathy
- PRPS1 deficiency disorder
- PRRT2-associated paroxysmal movement disorder
- PSAP-related sphingolipidosis
- PSAT deficiency
- PSPH deficiency
