Mondo Disease Ontology
2362 terms(s) returned
| Term Type: | Record: 1 to 50 of 2362 Records | Page: 1 of 48, First Previous Next Last | Show Records Per Page |
- P5CS deficiency
- PA polymorphism of alpha-2-globulin
- PAGOD syndrome
- PAICS deficiency
- PANDAS
- PARC syndrome
- PAX5-related B lymphopenia and autism spectrum disorder
- PAX6-related ocular dysgenesis
- PBRM1-related BAFopathy
- PCARE-related retinopathy
- PCWH syndrome
- PDA1
- PDE6A-related retinopathy
- PEHO syndrome
- PEHO-like syndrome
- PENS syndrome
- PERCHING 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
- PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis
- PLA2G6-associated neurodegeneration
- PLG-related hereditary angioedema with normal C1inh
- PLIN1-related familial partial lipodystrophy
- PMM2-congenital disorder of glycosylation
- PMP22-RAI1 contiguous gene duplication syndrome
- PNPLA6-related spastic paraplegia with or without ataxia
- POEMS syndrome
- POLD1-related polyposis and colorectal cancer syndrome
- POLE-related polyposis and colorectal cancer syndrome
- POMGNT2-related limb-girdle muscular dystrophy R24
- PPARG-related familial partial lipodystrophy
- PPP2R1A-related intellectual disability
- PPoma
- PR interval, variation in
- PRKAG2-related cardiomyopathy
- PRKAR1B-related neurodegenerative dementia with intermediate filaments
- PRPF31-related retinopathy
- PRPF8-related retinopathy
- PRPS1 deficiency disorder
- PSAP-related sphingolipidosis
- PSAT deficiency
- PSPH deficiency
- PTEN hamartoma tumor syndrome
- PUM1-associated developmental disability-ataxia-seizure syndrome
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
