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2319 Result(s)
- P-TGCV
- P5CS deficiency
- P5N deficiency
- P5PD-DEE
- PACA
- PACD
- PACHD
- Pachydermoperiostosis
- Pachygyria-intellectual disability-epilepsy syndrome
- Pachyonychia congenita
- Pacman dysplasia
- PACNS
- PACS1-NDD
- PACS1-neurodevelopmental disorder
- PACS1-related syndrome
- PADDAS syndrome
- PADMAL
- PAF
- PAFAH1B1-related lissencephaly
- Paget disease of the breast
- Paget disease of the nipple
- Paget's disease of the nipple
- Paget-Schrotter disease
- Pagetoid amyotrophic lateral sclerosis
- Pagetoid neuroskeletal syndrome
- Pagetoid reticulosis, Woringer-Kolopp type
- PAGOD syndrome
- Pagon-Bird-Detter syndrome
- PAH
- PAH
- PAH associated with another disease
- PAH associated with chronic hemolytic anemia
- PAH associated with congenital heart disease
- PAH associated with connective tissue disease
- PAH associated with HIV infaction
- PAH associated with portal hypertension
- PAH associated with schistosomiasis
- PAH deficiency
- PAI
- Pai syndrome
- PAICS deficiency
- Painful bladder syndrome
- Painful bruising syndrome
- Painful congenital myotonia
- Painful legs and moving toes syndrome
- Painful myotonia
- Painful ophthalmoplegia
- Painful orbital and systemic neurofibromas-marfanoid habitus syndrome
- PAIS
- Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome
- Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
- Palatodigital syndrome, Catel-Manzke type
- PALE
- Pallidopyramidal syndrome
- Pallister ulnar-mammary syndrome
- Pallister-Hall syndrome
- Pallister-Killian syndrome
- Pallister-W syndrome
- Palmar, plantar and disseminated porokeratosis
- Palmer-Pagon syndrome
- Palmoplantar and periorificial keratoderma
- Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy
- Palmoplantar hyperkeratosis, Nagashima type
- Palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome
- Palmoplantar hyperkeratosis-deafness syndrome
- Palmoplantar hyperkeratosis-esophageal carcinoma syndrome
- Palmoplantar hyperkeratosis-hearing loss syndrome
- Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome
- Palmoplantar hyperkeratosis-sclerodactyly syndrome
- Palmoplantar hyperkeratosis-spastic paralysis syndrome
- Palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome
- Palmoplantar keratoderma and congenital alopecia, Stevanovic type
- Palmoplantar keratoderma and congenital alopecia, Wallis type
- Palmoplantar keratoderma with arrythmogenic cardiomyopathy
- Palmoplantar keratoderma, Nagashima type
- Palmoplantar keratoderma-Charcot-Marie-Tooth syndrome
- Palmoplantar keratoderma-clinodactyly syndrome
- Palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome
- Palmoplantar keratoderma-deafness syndrome
- Palmoplantar keratoderma-esophageal carcinoma syndrome
- Palmoplantar keratoderma-hearing loss syndrome
- Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
- Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome
- Palmoplantar keratoderma-sclerodactyly syndrome
- Palmoplantar keratoderma-spastic paralysis syndrome
- Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
- Palmoplantar pustulosis
- PAM
- PAMI syndrome
- PAN
- Panayiotopoulos syndrome
- Pancreatic acinar cell carcinoma
- Pancreatic acinar cystic transformation
- Pancreatic adenoma
- Pancreatic agenesis and congenital heart defects syndrome
- Pancreatic agenesis-holoprosencephaly syndrome
- Pancreatic and cerebellar agenesis
- Pancreatic arteriovenous malformation
- Pancreatic cholera
- Pancreatic colipase deficiency
- Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
- Pancreatic insufficiency and bone marrow dysfunction
- Pancreatic insufficiency-anemia-hyperostosis syndrome
- Pancreatic intraductal papillary mucinous carcinoma
- Pancreatic lymphoepithelial cyst
- Pancreatic MiNEN
- Pancreatic mixed neuroendocrine-nonneuroendocrine neoplasm
- Pancreatic mucinous cystadenocarcinoma
- Pancreatic NEC
- Pancreatic NEN
- Pancreatic NET
- Pancreatic neuroendocrine carcinoma
- Pancreatic neuroendocrine neoplasm
- Pancreatic neuroendocrine tumor
- Pancreatic osteoclastic giant cell tumor
- Pancreatic polypeptidoma
- Pancreatic serous cystadenocarcinoma
- Pancreatic solid pseudopapillary neoplasm
- Pancreatic squamous cell carcinoma
- Pancreatic triacylglycerol lipase deficiency
- Pancreatic triglyceride lipase deficiency
- Pancreatic undifferentiated carcinoma with osteoclast-like giant cells
- Pancreatoblastoma
- Pancytopenia-developmental delay syndrome
- PANDAS
- Panhypophysitis
- Panner disease
- Panniculitis-induced localized lipodystrophy
- Pantothenate kinase-associated neurodegeneration
- Panuveitis
- PAO
- PAP, Reunion island type
- PAPA syndrome
- PAPASH syndrome
- Papillary capillary hemangioma
- Papillary glioneuronal tumor
- Papillary hemangioma
- Papillary intralymphatic angioendothelioma
- Papillary or follicular thyroid carcinoma
- Papillary renal cell adenocarcinoma
- Papillary renal cell carcinoma
- Papillary syringocystadenoma
- Papillary tumor of the pineal region
- Papillo-renal syndrome
- Papilloma of choroid plexus
- Papillon-Lefèvre syndrome
- Papillon-Léage-Psaume syndrome
- PAPPA syndrome
- PAPPAS
- Papular atrichia
- Papular elastorrhexis
- Papular epidermal nevi with skyline basal cell layers syndrome
- Papular mucinosis
- Papular mucinosis of infancy
- Papular xanthoma
- Papulosis atrophicans maligna
- Para-infectious cerebellitis
- Paracetamol poisoning
- Parachute tricuspid valve
- Paracoccidioidomycosis
- Paraganglioma and gastric stromal sarcoma
- Paraganglioma-somatostatinoma-polycythemia syndrome
- Paragonimiasis
- Parahemophilia
- Paralytic facial malformation
- Paramacular albinotic spot syndrome
- Paramedian facial cleft
- Paramedian nasal cleft
- Paramyotonia congenita
- Paramyotonia congenita of Von Eulenburg
- Parana hard skin syndrome
- Paraneoplastic cerebellar ataxia
- Paraneoplastic cerebellar degeneration
- Paraneoplastic Cushing syndrome
- Paraneoplastic isolated brainstem encephalitis
- Paraneoplastic isolated rhombencephalitis
- Paraneoplastic isolated rhomboencephalitis
- Paraneoplastic neurologic syndrome
- Paraneoplastic opsoclonus-myoclonus
- Paraneoplastic opsoclonus-myoclonus-ataxia syndrome
- Paraneoplastic pemphigus
- Paraneoplastic retinopathy
- Paraneoplastic sensory ganglionopathy
- Paraneoplastic sensory neuronopathy
- Paraneoplastic uveal melanocytic hyperplasia
- Paraneoplastic uveitis
- Paraparetic variant of GBS
- Paraparetic variant of Guillain-Barré syndrome
- Paraplegia-intellectual disability-hyperkeratosis syndrome
- Paraquat poisoning
- Parasitic myositis
- Paratesticular adenocarcinoma
- Parathyroid carcinoma
- Paratyphoid fever
- PARC syndrome
- PARDS
- Parenteral nutrition-associated cholestasis
- Parietal encephalocele
- Parietal foramina with clavicular hypoplasia
- Parietal foramina with cleidocranial dysplasia
- Paris-Trousseau thrombocytopenia
- PARK14
- PARK9
- Parkes Weber syndrome
- Parkinson-dementia complex of Guam
- Parkinsonian-pyramidal syndrome
- Parkinsonism with alveolar hypoventilation and mental depression
- Parkinsonism with polyneuropathy
- Paroxysmal choreoathetosis
- Paroxysmal cold hemoglobinuria
- Paroxysmal dyskinesia
- Paroxysmal dystonia
- Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
- Paroxysmal dystonic choreoathetosis
- Paroxysmal exertion-induced dyskinesia
- Paroxysmal extreme pain disorder
- Paroxysmal hemicrania
- Paroxysmal kinesigenic choreathetosis
- Paroxysmal kinesigenic dyskinesia
- Paroxysmal kinesigenic dyskinesia and infantile convulsions
- Paroxysmal nocturnal hemoglobinuria
- Paroxysmal non-kinesigenic dyskinesia
- Paroxystic non-kinesigenic choreoathetosis
- Parrot disease
- Parrot fever
- Parry-Romberg syndrome
- Partial 21q monosomy
- Partial agenesis of the pancreas
- Partial albinism-immunodeficiency syndrome
- Partial androgen insensitivity syndrome
- Partial androgen resistance syndrome
- Partial atrioventricular canal defect
- Partial atrioventricular canal defect with ventricular hypoplasia
- Partial atrioventricular canal defect without ventricular hypoplasia
- Partial atrioventricular septal defect
- Partial atrioventricular septal defect with balanced ventricles
- Partial atrioventricular septal defect with ventricular hypoplasia
- Partial atrioventricular septal defect with ventricular imbalance
- Partial atrioventricular septal defect without ventricular hypoplasia
- Partial autosomal deletion syndrome
- Partial autosomal duplication/triplication syndrome
- Partial autosomal monosomy
- Partial autosomal trisomy/tetrasomy
- Partial AVSD
- Partial AVSD with ventricular hypoplasia
- Partial AVSD without ventricular hypoplasia
- Partial bilateral aplasia of the Müllerian ducts
- Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
- Partial cryptophthalmia
- Partial deep dermal and full thickness burns
- Partial deficiency of methylmalonyl-CoA mutase
- Partial deletion of chromosome 1 syndrome
- Partial deletion of chromosome 10 syndrome
- Partial deletion of chromosome 10p
- Partial deletion of chromosome 10q
- Partial deletion of chromosome 11 syndrome
- Partial deletion of chromosome 11p
- Partial deletion of chromosome 11q
- Partial deletion of chromosome 12 syndrome
- Partial deletion of chromosome 12p
- Partial deletion of chromosome 12q
- Partial deletion of chromosome 13q
- Partial deletion of chromosome 14q
- Partial deletion of chromosome 15q
- Partial deletion of chromosome 16 syndrome
- Partial deletion of chromosome 16p
- Partial deletion of chromosome 16q
- Partial deletion of chromosome 17 syndrome
- Partial deletion of chromosome 17p
- Partial deletion of chromosome 17q
- Partial deletion of chromosome 18 syndrome
- Partial deletion of chromosome 18p
- Partial deletion of chromosome 18q
- Partial deletion of chromosome 19 syndrome
- Partial deletion of chromosome 19p
- Partial deletion of chromosome 19q
- Partial deletion of chromosome 1p
- Partial deletion of chromosome 1q
- Partial deletion of chromosome 2 syndrome
- Partial deletion of chromosome 20 syndrome
- Partial deletion of chromosome 20p
- Partial deletion of chromosome 20q
- Partial deletion of chromosome 21q
- Partial deletion of chromosome 22q
- Partial deletion of chromosome 2p
- Partial deletion of chromosome 2q
- Partial deletion of chromosome 3 syndrome
- Partial deletion of chromosome 3p
- Partial deletion of chromosome 3q
- Partial deletion of chromosome 4 syndrome
- Partial deletion of chromosome 4p
- Partial deletion of chromosome 4q
- Partial deletion of chromosome 5 syndrome
- Partial deletion of chromosome 5p
- Partial deletion of chromosome 5q
- Partial deletion of chromosome 6 syndrome
- Partial deletion of chromosome 6p
- Partial deletion of chromosome 6q
- Partial deletion of chromosome 7 syndrome
- Partial deletion of chromosome 7p
- Partial deletion of chromosome 7q
- Partial deletion of chromosome 8 syndrome
- Partial deletion of chromosome 8p
- Partial deletion of chromosome 8q
- Partial deletion of chromosome 9 syndrome
- Partial deletion of chromosome 9p
- Partial deletion of chromosome 9q
- Partial deletion of chromosome X syndrome
- Partial deletion of chromosome Xp
- Partial deletion of chromosome Xq
- Partial deletion of the long arm of chromosome 1 syndrome
- Partial deletion of the long arm of chromosome 10 syndrome
- Partial deletion of the long arm of chromosome 11 syndrome
- Partial deletion of the long arm of chromosome 12 syndrome
- Partial deletion of the long arm of chromosome 13 syndrome
- Partial deletion of the long arm of chromosome 14 syndrome
- Partial deletion of the long arm of chromosome 15 syndrome
- Partial deletion of the long arm of chromosome 16 syndrome
- Partial deletion of the long arm of chromosome 17 syndrome
- Partial deletion of the long arm of chromosome 18 syndrome
- Partial deletion of the long arm of chromosome 19 syndrome
- Partial deletion of the long arm of chromosome 2 syndrome
- Partial deletion of the long arm of chromosome 20 syndrome
- Partial deletion of the long arm of chromosome 21 syndrome
- Partial deletion of the long arm of chromosome 22 syndrome
- Partial deletion of the long arm of chromosome 3 syndrome
- Partial deletion of the long arm of chromosome 4 syndrome
- Partial deletion of the long arm of chromosome 5 syndrome
- Partial deletion of the long arm of chromosome 6 syndrome
- Partial deletion of the long arm of chromosome 7 syndrome
- Partial deletion of the long arm of chromosome 8 syndrome
- Partial deletion of the long arm of chromosome 9 syndrome
- Partial deletion of the long arm of chromosome X syndrome
- Partial deletion of the short arm of chromosome 1 syndrome
- Partial deletion of the short arm of chromosome 10 syndrome
- Partial deletion of the short arm of chromosome 11 syndrome
- Partial deletion of the short arm of chromosome 12 syndrome
- Partial deletion of the short arm of chromosome 16 syndrome
- Partial deletion of the short arm of chromosome 17 syndrome
- Partial deletion of the short arm of chromosome 18 syndrome
- Partial deletion of the short arm of chromosome 19 syndrome
- Partial deletion of the short arm of chromosome 2 syndrome
- Partial deletion of the short arm of chromosome 20 syndrome
- Partial deletion of the short arm of chromosome 3 syndrome
- Partial deletion of the short arm of chromosome 4 syndrome
- Partial deletion of the short arm of chromosome 5 syndrome
- Partial deletion of the short arm of chromosome 6 syndrome
- Partial deletion of the short arm of chromosome 7 syndrome
- Partial deletion of the short arm of chromosome 8 syndrome
- Partial deletion of the short arm of chromosome 9 syndrome
- Partial deletion of the short arm of chromosome X
- Partial deletion of the short arm of the chromosome X syndrome
- Partial duplication of chromosome 1 syndrome
- Partial duplication of chromosome 10 syndrome
- Partial duplication of chromosome 10p
- Partial duplication of chromosome 10q
- Partial duplication of chromosome 11 syndrome
- Partial duplication of chromosome 11p
- Partial duplication of chromosome 11q
- Partial duplication of chromosome 13q
- Partial duplication of chromosome 14q
- Partial duplication of chromosome 15q
- Partial duplication of chromosome 16 syndrome
- Partial duplication of chromosome 16p
- Partial duplication of chromosome 16q
- Partial duplication of chromosome 17 syndrome
- Partial duplication of chromosome 17p
- Partial duplication of chromosome 17q
- Partial duplication of chromosome 18q
- Partial duplication of chromosome 19 syndrome
- Partial duplication of chromosome 19p
- Partial duplication of chromosome 19q
- Partial duplication of chromosome 1p
- Partial duplication of chromosome 1q
- Partial duplication of chromosome 2 syndrome
- Partial duplication of chromosome 20 syndrome
- Partial duplication of chromosome 20p
- Partial duplication of chromosome 20q
- Partial duplication of chromosome 22q
- Partial duplication of chromosome 2p
- Partial duplication of chromosome 2q
- Partial duplication of chromosome 3 syndrome
- Partial duplication of chromosome 3p
- Partial duplication of chromosome 3q
- Partial duplication of chromosome 4 syndrome
- Partial duplication of chromosome 4p
- Partial duplication of chromosome 4q
- Partial duplication of chromosome 5q
- Partial duplication of chromosome 6 syndrome
- Partial duplication of chromosome 6p
- Partial duplication of chromosome 6q
- Partial duplication of chromosome 7 syndrome
- Partial duplication of chromosome 7p
- Partial duplication of chromosome 7q
- Partial duplication of chromosome 8 syndrome
- Partial duplication of chromosome 8p
- Partial duplication of chromosome 8q
- Partial duplication of chromosome 9p
- Partial duplication of chromosome 9q
- Partial duplication of chromosome X syndrome
- Partial duplication of chromosome Xp
- Partial duplication of chromosome Xq
- Partial duplication of the long arm of chromosome 1 syndrome
- Partial duplication of the long arm of chromosome 10 syndrome
- Partial duplication of the long arm of chromosome 11 syndrome
- Partial duplication of the long arm of chromosome 13 syndrome
- Partial duplication of the long arm of chromosome 14 syndrome
- Partial duplication of the long arm of chromosome 15 syndrome
- Partial duplication of the long arm of chromosome 16 syndrome
- Partial duplication of the long arm of chromosome 17 syndrome
- Partial duplication of the long arm of chromosome 18 syndrome
- Partial duplication of the long arm of chromosome 19 syndrome
- Partial duplication of the long arm of chromosome 2 syndrome
- Partial duplication of the long arm of chromosome 20 syndrome
- Partial duplication of the long arm of chromosome 22 syndrome
- Partial duplication of the long arm of chromosome 3 syndrome
- Partial duplication of the long arm of chromosome 4 syndrome
- Partial duplication of the long arm of chromosome 5 syndrome
- Partial duplication of the long arm of chromosome 6 syndrome
- Partial duplication of the long arm of chromosome 7 syndrome
- Partial duplication of the long arm of chromosome 8 syndrome
- Partial duplication of the long arm of chromosome 9 syndrome
- Partial duplication of the long arm of chromosome X syndrome
- Partial duplication of the short arm of chromosome 1 syndrome
- Partial duplication of the short arm of chromosome 10 syndrome
- Partial duplication of the short arm of chromosome 11 syndrome
- Partial duplication of the short arm of chromosome 16 syndrome
- Partial duplication of the short arm of chromosome 17 syndrome
- Partial duplication of the short arm of chromosome 19 syndrome
- Partial duplication of the short arm of chromosome 2 syndrome
- Partial duplication of the short arm of chromosome 20
- Partial duplication of the short arm of chromosome 3 syndrome
- Partial duplication of the short arm of chromosome 4 syndrome
- Partial duplication of the short arm of chromosome 6 syndrome
- Partial duplication of the short arm of chromosome 7 syndrome
- Partial duplication of the short arm of chromosome 8 syndrome
- Partial duplication of the short arm of chromosome 9
- Partial duplication of the short arm of chromosome X syndrome
- Partial duplication/triplication of chromosome 12p
- Partial duplication/triplication of chromosome 18 syndrome
- Partial duplication/triplication of chromosome 18p
- Partial duplication/triplication of chromosome 5 syndrome
- Partial duplication/triplication of chromosome 5p
- Partial duplication/triplication of chromosome 9 syndrome
- Partial duplication/triplication of the short arm of chromosome 12 syndrome
- Partial duplication/triplication of the short arm of chromosome 18 syndrome
- Partial duplication/triplication of the short arm of chromosome 5 syndrome
- Partial duplication/triplication of the short arm of chromosome 9 syndrome
- Partial epilepsy with auditory aura
- Partial epilepsy with auditory features
- Partial facial palsy with urinary abnormalities
- Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
- Partial hydatidiform mole
- Partial LCAT deficiency
- Partial mevalonate kinase deficiency
- Partial molar pregnancy
- Partial monosomy of chromosome 1
- Partial monosomy of chromosome 10
- Partial monosomy of chromosome 10p
- Partial monosomy of chromosome 10q
- Partial monosomy of chromosome 11
- Partial monosomy of chromosome 11p
- Partial monosomy of chromosome 11q
- Partial monosomy of chromosome 12
- Partial monosomy of chromosome 12p
- Partial monosomy of chromosome 12q
- Partial monosomy of chromosome 13q
- Partial monosomy of chromosome 14q
- Partial monosomy of chromosome 15q
- Partial monosomy of chromosome 16
- Partial monosomy of chromosome 16p
- Partial monosomy of chromosome 16q
- Partial monosomy of chromosome 17
- Partial monosomy of chromosome 17p
- Partial monosomy of chromosome 17q
- Partial monosomy of chromosome 18
- Partial monosomy of chromosome 18p
- Partial monosomy of chromosome 18q
- Partial monosomy of chromosome 19
- Partial monosomy of chromosome 19p
- Partial monosomy of chromosome 19q
- Partial monosomy of chromosome 1p
- Partial monosomy of chromosome 1q
- Partial monosomy of chromosome 2
- Partial monosomy of chromosome 20
- Partial monosomy of chromosome 20p
- Partial monosomy of chromosome 20q
- Partial monosomy of chromosome 21q
- Partial monosomy of chromosome 22q
- Partial monosomy of chromosome 2p
- Partial monosomy of chromosome 2q
- Partial monosomy of chromosome 3
- Partial monosomy of chromosome 3p
- Partial monosomy of chromosome 3q
- Partial monosomy of chromosome 4
- Partial monosomy of chromosome 4p
- Partial monosomy of chromosome 4q
- Partial monosomy of chromosome 5
- Partial monosomy of chromosome 5p
- Partial monosomy of chromosome 5q
- Partial monosomy of chromosome 6
- Partial monosomy of chromosome 6p
- Partial monosomy of chromosome 6q
- Partial monosomy of chromosome 7
- Partial monosomy of chromosome 7p
- Partial monosomy of chromosome 7q
- Partial monosomy of chromosome 8
- Partial monosomy of chromosome 8p
- Partial monosomy of chromosome 8q
- Partial monosomy of chromosome 9
- Partial monosomy of chromosome 9p
- Partial monosomy of chromosome 9q
- Partial monosomy of chromosome X
- Partial monosomy of chromosome Xp
- Partial monosomy of chromosome Xq
- Partial monosomy of the long arm of chromosome 1
- Partial monosomy of the long arm of chromosome 10
- Partial monosomy of the long arm of chromosome 11
- Partial monosomy of the long arm of chromosome 12
- Partial monosomy of the long arm of chromosome 13
- Partial monosomy of the long arm of chromosome 14
- Partial monosomy of the long arm of chromosome 15
- Partial monosomy of the long arm of chromosome 16
- Partial monosomy of the long arm of chromosome 17
- Partial monosomy of the long arm of chromosome 18
- Partial monosomy of the long arm of chromosome 19
- Partial monosomy of the long arm of chromosome 2
- Partial monosomy of the long arm of chromosome 20
- Partial monosomy of the long arm of chromosome 21
- Partial monosomy of the long arm of chromosome 22
- Partial monosomy of the long arm of chromosome 3
- Partial monosomy of the long arm of chromosome 4
- Partial monosomy of the long arm of chromosome 5
- Partial monosomy of the long arm of chromosome 6
- Partial monosomy of the long arm of chromosome 7
- Partial monosomy of the long arm of chromosome 8
- Partial monosomy of the long arm of chromosome 9
- Partial monosomy of the long arm of chromosome X
- Partial monosomy of the short arm of chromosome 1
- Partial monosomy of the short arm of chromosome 10
- Partial monosomy of the short arm of chromosome 11
- Partial monosomy of the short arm of chromosome 12
- Partial monosomy of the short arm of chromosome 16
- Partial monosomy of the short arm of chromosome 17
- Partial monosomy of the short arm of chromosome 18
- Partial monosomy of the short arm of chromosome 19
- Partial monosomy of the short arm of chromosome 2
- Partial monosomy of the short arm of chromosome 20
- Partial monosomy of the short arm of chromosome 3
- Partial monosomy of the short arm of chromosome 4
- Partial monosomy of the short arm of chromosome 5
- Partial monosomy of the short arm of chromosome 6
- Partial monosomy of the short arm of chromosome 7
- Partial monosomy of the short arm of chromosome 8
- Partial monosomy of the short arm of chromosome 9
- Partial monosomy of the short arm of chromosome X
- Partial pancreatic agenesis
- Partial septate uterus
- Partial situs inversus
- Partial tetrasomy of chromosome 9p
- Partial triplication of chromosome 9p
- Partial trisomy of chromosome Xp
- Partial trisomy of chromosome Xq
- Partial trisomy of chromosome 1
- Partial trisomy of chromosome 10
- Partial trisomy of chromosome 10p
- Partial trisomy of chromosome 10q
- Partial trisomy of chromosome 11
- Partial trisomy of chromosome 11p
- Partial trisomy of chromosome 11q
- Partial trisomy of chromosome 13q
- Partial trisomy of chromosome 14q
- Partial trisomy of chromosome 15q
- Partial trisomy of chromosome 16
- Partial trisomy of chromosome 16p
- Partial trisomy of chromosome 16q
- Partial trisomy of chromosome 17
- Partial trisomy of chromosome 17p
- Partial trisomy of chromosome 17q
- Partial trisomy of chromosome 18q
- Partial trisomy of chromosome 19
- Partial trisomy of chromosome 19p
- Partial trisomy of chromosome 19q
- Partial trisomy of chromosome 1p
- Partial trisomy of chromosome 1q
- Partial trisomy of chromosome 2
- Partial trisomy of chromosome 20
- Partial trisomy of chromosome 20p
- Partial trisomy of chromosome 20q
- Partial trisomy of chromosome 22q
- Partial trisomy of chromosome 2p
- Partial trisomy of chromosome 2q
- Partial trisomy of chromosome 3
- Partial trisomy of chromosome 3p
- Partial trisomy of chromosome 3q
- Partial trisomy of chromosome 4
- Partial trisomy of chromosome 4p
- Partial trisomy of chromosome 4q
- Partial trisomy of chromosome 5q
- Partial trisomy of chromosome 6
- Partial trisomy of chromosome 6p
- Partial trisomy of chromosome 6q
- Partial trisomy of chromosome 7
- Partial trisomy of chromosome 7p
- Partial trisomy of chromosome 7q
- Partial trisomy of chromosome 8
- Partial trisomy of chromosome 8p
- Partial trisomy of chromosome 8q
- Partial trisomy of chromosome 9p
- Partial trisomy of chromosome 9q
- Partial trisomy of chromosome X
- Partial trisomy of the long arm of chromosome 1
- Partial trisomy of the long arm of chromosome 10
- Partial trisomy of the long arm of chromosome 11
- Partial trisomy of the long arm of chromosome 13
- Partial trisomy of the long arm of chromosome 14
- Partial trisomy of the long arm of chromosome 15
- Partial trisomy of the long arm of chromosome 16
- Partial trisomy of the long arm of chromosome 17
- Partial trisomy of the long arm of chromosome 18
- Partial trisomy of the long arm of chromosome 19
- Partial trisomy of the long arm of chromosome 2
- Partial trisomy of the long arm of chromosome 20
- Partial trisomy of the long arm of chromosome 22
- Partial trisomy of the long arm of chromosome 4
- Partial trisomy of the long arm of chromosome 5
- Partial trisomy of the long arm of chromosome 6
- Partial trisomy of the long arm of chromosome 7
- Partial trisomy of the long arm of chromosome 8
- Partial trisomy of the long arm of chromosome 9
- Partial trisomy of the long arm of chromosome X
- Partial trisomy of the short arm of chromosome 10
- Partial trisomy of the short arm of chromosome 11
- Partial trisomy of the short arm of chromosome 16
- Partial trisomy of the short arm of chromosome 17
- Partial trisomy of the short arm of chromosome 19
- Partial trisomy of the short arm of chromosome 20
- Partial trisomy of the short arm of chromosome 3
- Partial trisomy of the short arm of chromosome 4
- Partial trisomy of the short arm of chromosome 6
- Partial trisomy of the short arm of chromosome 7
- Partial trisomy of the short arm of chromosome 8
- Partial trisomy of the short arm of chromosome X
- Partial trisomy/tetrasomy of chromosome 12p
- Partial trisomy/tetrasomy of chromosome 18
- Partial trisomy/tetrasomy of chromosome 18p
- Partial trisomy/tetrasomy of chromosome 5
- Partial trisomy/tetrasomy of chromosome 5p
- Partial trisomy/tetrasomy of chromosome 9
- Partial trisomy/tetrasomy of the short arm of chromosome 12
- Partial trisomy/tetrasomy of the short arm of chromosome 18
- Partial trisomy/tetrasomy of the short arm of chromosome 5
- Partial trisomy/tetrasomy of the short arm of chromosome 9
- Partially involuting congenital hemangioma
- Partington disease
- Partington syndrome
- Partington-Mulley syndrome
- Parvovirus antenatal infection
- PAS
- PAS
- Pascual-Castroviejo syndrome type 1
- Pascual-Castroviejo syndrome type 2
- PASH syndrome
- Pashayan syndrome
- Pashayan-Pruzansky syndrome
- PASLI
- PASLI-CD
- PASLI-R1
- PASS syndrome
- Passwell-Goodman-Siprkowski syndrome
- Patau syndrome
- Patellar dysostosis
- Patent arterial duct-bicuspid aortic valve-hand anomalies syndrome
- Patent ductus arteriosus anomalies
- Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
- Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
- Patent urachus
- Paternal 20q13.2q13.3 microdeletion syndrome
- Paternal del(14)(q32.2)
- Paternal del(20)(q13.2q13.3)
- Paternal monosomy 20q13.2q13.3
- Paternal uniparental disomy of chromosome 1 syndrome
- Paternal uniparental disomy of chromosome 13 syndrome
- Paternal uniparental disomy of chromosome 20 syndrome
- Paternal uniparental disomy of chromosome 21 syndrome
- Paternal uniparental disomy of chromosome 5 syndrome
- Paternal uniparental disomy of chromosome 6 syndrome
- Paternal uniparental disomy of chromosome 7 syndrome
- Paternal uniparental disomy of chromosome X syndrome
- Paternal uniparental disomy syndrome
- Paternal UPD(20)
- Pattern dystrophy
- Patterned dystrophy of the retinal pigment epithelium
- Patterson pseudoleprechaunism syndrome
- Patterson syndrome
- Patterson-Stevenson syndrome
- Patterson-Stevenson-Fontaine syndrome
- PATX
- Pauci-immune glomerulonephritis
- Pauci-immune glomerulonephritis with ANCA
- Pauci-immune glomerulonephritis with antineutrophil cytoplasmic antibody
- Pauci-immune glomerulonephritis without ANCA
- Pauci-immune glomerulonephritis without antineutrophil cytoplasmic antibody
- Pauciarticular chronic arthritis
- PAVC
- PAVC with ventricular hypoplasia
- PAVC without ventricular hypoplasia
- PAVF
- PAVM
- PBC
- PBC/PSC and AIH overlap syndrome
- PBCRA
- PBD-ZSD
- PBL
- PBX1-related congenital anomalies of kidney-urinary tract syndrome
- PBX1-related syndromic CAKUT
- PC
- PCA
- PCARP
- PCB variant of GBS
- PCB variant of Guillain-Barré syndrome
- PCCA
- PCD
- PCD
- PCDLBCL,LT
- PCFCL
- PCGF2-related disorder
- PCH
- PCH
- PCH1
- PCH10
- PCH11
- PCH12
- PCH13
- PCH14
- PCH2
- PCH3
- PCH4
- PCH6
- PCH7
- PCH8
- PCH9
- PCI deficiency
- PCL
- PCLD
- PCMZL
- PCNA-related progressive neurodegenerative photosensitivity syndrome
- PCNSL
- PCNSV
- PCT
- PCWH
- PD-DEE
- PDAC syndrome
- PDCD
- PDDRI
- PDE4D haploinsufficiency syndrome
- PDH
- PDH phosphatase deficiency
- PDHAD
- PDHBD
- PDHC
- PDP
- PDR
- Pearson marrow-pancreas syndrome
- Pearson syndrome
- PEBAS
- PEComa
- Pectus excavatum-macrocephaly-dysplastic nails syndrome
- PED
- Pediatric acute respiratory distress syndrome
- Pediatric AIS
- Pediatric ARDS
- Pediatric arterial ischemic stroke
- Pediatric autoimmune disorders associated with Streptococcus infections
- Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections
- Pediatric collagenous gastritis
- Pediatric HCC
- Pediatric hepatocellular carcinoma
- Pediatric multiple sclerosis
- Pediatric systemic lupus erythematosus
- Pediatric-onset Basedow disease
- Pediatric-onset glaucoma
- Pediatric-onset glaucoma of genetic origin
- Pediatric-onset Graves disease
- pEDS
- Peeling skin disease
- Peeling skin syndrome
- Peeling skin syndrome 1
- Peeling skin syndrome 2
- Peeling skin syndrome type A
- Peeling skin syndrome type B
- Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome
- PEHO syndrome
- PEHO-like syndrome
- PEL
- Pelizaeus-Merzbacher brain sclerosis
- Pelizaeus-Merzbacher disease
- Pelizaeus-Merzbacher disease in female carriers
- Pelizaeus-Merzbacher disease type II
- Pelizaeus-Merzbacher disease, classic form
- Pelizaeus-Merzbacher disease, connatal form
- Pelizaeus-Merzbacher disease, null syndrome
- Pelizaeus-Merzbacher disease, transitional form
- Pelizaeus-Merzbacher-like disease
- Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
- Pelizaeus-Merzbacher-like disease due to GJC2 mutation
- Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
- Pellagra
- Pellucid marginal degeneration
- Pelvic dysplasia-arthrogryposis of lower limbs syndrome
- PELVIS syndrome
- Pelvis-shoulder dysplasia
- Pelviscapular dysplasia
- Pemphigoid gestationis
- Pemphigus erythematosus
- Pemphigus foliaceus
- Pemphigus vegetans
- Pemphigus vulgaris
- Pena-Shokeir syndrome type 1
- Pena-Shokeir syndrome type 2
- Pendred syndrome
- Penicilliosis
- Penile adenocarcinoma
- Penile agenesis
- Penile cancer
- Penile squamous cell carcinoma
- Penis agenesis
- Penoscrotal transposition
- PENS syndrome
- Penta-X
- Pentalogy of Cantrell
- Pentasomy X syndrome
- Pentosuria
- PEO-myopathy-emaciation syndrome
- PEP syndrome
- PEPCK deficiency
- PERCHING syndrome
- Periarteritis nodosa
- Pericardial and diaphragmatic defect
- Pericarditis-arthropathy-camptodactyly syndrome
- Perifoveal exudative vascular anomalous complex
- Perihilar cholangiocarcinoma
- Perinatal hypoxia
- Perinatal lethal bent bone dysplasia
- Perinatal lethal Gaucher disease
- Perinatal lethal hypophosphatasia
- Perinatal lethal phosphoethanolaminuria
- Perinatal lethal Rathbun disease
- Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome
- Perineal, scrotal or penoscrotal hypospadias
- Perineurioma
- Periodic disease
- Periodic fever syndrome
- Periodic fever syndrome of childhood
- Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome
- Periodic fever-immunodeficiency-thrombocytopenia syndrome
- Periodic fever-infantile enterocolitis-autoinflammatory syndrome
- Periodic paralysis
- Periodic paralysis with later-onset distal motor neuropathy
- Periodic paralysis with transient compartment-like syndrome
- Periodic vestibulocerebellar ataxia
- Periodontal EDS
- Periodontal Ehlers-Danlos syndrome
- Perioral myoclonia with absences
- Peripapillary staphyloma
- Peripartum cardiomyopathy
- Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
- Peripheral fibroblastoma
- Peripheral motor neuropathy-dysautonomia syndrome
- Peripheral neuroectodermal cancer of cervix uteri
- Peripheral neuroectodermal cancer of the corpus uteri
- Peripheral neuroepithelioma
- Peripheral neuropathy and optic atrophy
- Peripheral neuropathy associated with monoclonal gammopathy
- Peripheral neuropathy, Fiskerstrand type
- Peripheral neuropathy-myopathy-hoarseness-deafness syndrome
- Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- Peripheral PNET
- Peripheral primitive neuroectodermal tumor
- Peripheral pulmonary stenosis
- Peritoneal cyctic mesothelioma
- Peritoneal encapsulation syndrome
- Peritoneal inclusion cyst
- Peritoneal mesothelioma in situ
- Perivascular epithelioid cell neoplasm
- Perivascular epithelioid tumour
- Periventricular nodular heterotopia
- Perlman syndrome
- PERM
- Permanent congenital hypothyroidism
- Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
- Perniola-Krajewska-Carnevale syndrome
- Peroxisomal acyl-CoA oxidase deficiency
- Peroxisomal alanine-glyoxylate aminotransferase deficiency
- Peroxisomal beta-oxidation disorder
- Peroxisomal disease
- Peroxisomal disease with epilepsy
- Peroxisomal fatty acyl-CoA reductase 1 disorder
- Peroxisome biogenesis disorder
- Peroxisome biogenesis disorder spectrum
- Peroxisome biogenesis disorder-Zellweger spectrum disorder
- Perrault syndrome
- Perrault syndrome type 1
- Perrault syndrome type 2
- PERRS
- Perry syndrome
- Persistent combined dystonia
- Persistent eustachian valve
- Persistent fetal vasculature syndrome
- Persistent fever/inflammation of unknown origin
- Persistent fifth aortic arch
- Persistent hyperinsulinemic hypoglycemia of infancy
- Persistent hyperplastic primary vitreous
- Persistent idiopathic facial pain
- Persistent left superior vena cava connecting through coronary sinus to left-sided atrium
- Persistent left superior vena cava connecting to left-sided atrium
- Persistent left superior vena cava connecting to the roof of left-sided atrium
- Persistent left SVC connecting through coronary sinus to left-sided atrium
- Persistent left SVC connecting to left-sided atrium
- Persistent left SVC connecting to the roof of left-sided atrium
- Persistent Müllerian derivatives
- Persistent Müllerian duct syndrome
- Persistent placoid maculopathy
- Persistent polyclonal B-cell lymphocytosis
- Persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes
- Perthes disease
- Pertussis
- Peruvian warts
- Peters anomaly
- Peters anomaly with short limb dwarfism
- Peters congenital glaucoma
- Peters plus syndrome
- Petit-Fryns syndrome
- Pettigrew Syndrome
- Petty syndrome
- Petty-Laxova-Wiedemann syndrome
- Peutz-Jeghers syndrome
- PEVAC
- PFAPA syndrome
- PFBC
- PFCP
- PFCRD
- PFE
- Pfeiffer syndrome
- Pfeiffer syndrome type 1
- Pfeiffer syndrome type 2
- Pfeiffer syndrome type 3
- Pfeiffer-Kapferer syndrome
- Pfeiffer-Mayer syndrome
- Pfeiffer-Palm-Teller syndrome
- Pfeiffer-Singer-Zschiesche syndrome
- Pfeiffer-Weber-Christian syndrome
- PFFD
- PFIC
- PFIC1
- PFIC2
- PFIC3
- PFIC4
- PFIC5
- PFITS
- PFVS
- PGAM deficiency
- PGAM-M deficiency
- PGBM1
- PGM1-CDG
- PGM1-related congenital disorder of glycosylation
- PGM3-CDG
- PGM3-related congenital disorder of glycosylation
- PGNT
- PH due to lung disease and/or hypoxia
- PH owing to lung disease and/or hypoxia
- PH with unclear multifactorial mechanism
- PHA
- PHA type 1
- PHA1
- PHA2
- PHA2A
- PHA2B
- PHA2C
- PHA2D
- PHA2E
- PHACE syndrome
- PHACES syndrome
- Phacoallergic endophthalmitis
- Phacoanaphylactic uveitis
- Phacoantigenic endophthalmitis
- PHAII
- Phako-anaphylactic endophthalmitis
- Phakomatosis cesioflammea
- Phakomatosis cesiomarmorata
- Phakomatosis pigmentokeratotica
- Phakomatosis pigmentovascularis
- Phakomatosis pigmentovascularis type 2
- Phakomatosis pigmentovascularis type 3
- Phakomatosis pigmentovascularis type 5
- Phakomatosis spilorosea
- Phalangeal microgeodic syndrome
- Phalangeal osteolysis
- PHARC syndrome
- Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome
- Pharyngeal-cervical-brachial weakness
- Pharyngo-cervico-brachial variant of GBS
- Pharyngo-cervico-brachial variant of Guillain-Barré syndrome
- PHAVER syndrome
- PHD syndrome
- Phelan-McDermid syndrome
- Phelan-McDermid syndrome due to 22q13.3 deletion
- Phelan-McDermid syndrome due to SHANK3 mutation
- Phemphigoid pyoderma gangrenosum
- Phenobarbital embryopathy
- Phenotypic diarrhea
- Phenylalanine hydroxylase deficiency
- Phenylketonuria
- Phenylketonuria type 2
- Phenylketonuric embryopathy
- Phenytoin embryofetopathy
- Pheochromocytoma-paraganglioma
- PHGDH deficiency, infantile/juvenile form
- PHHI
- Philadelphia chromosome-like B-ALL
- PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
- Phlebectatic osteohypoplastic angiodysplasia
- PHNED
- PHO
- Phocomelia, Schinzel type
- Phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome
- Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency
- Phosphoenolpyruvate carboxykinase deficiency
- Phosphoethanolaminuria
- Phosphoglucomutase-1 deficiency
- Phospholipase A2-associated neurodegeneration
- Phosphomannomutase 2 deficiency
- Phosphomannose isomerase deficiency
- Phosphoribosylaminoimidazole carboxylase deficiency
- Phosphoribosylpyrophosphate synthetase superactivity
- Phosphoserine aminotransferase deficiency, infantile/juvenile form
- Phosphoserine aminotransferase deficiency, prenatal form
- Photogenodermatosis
- Photogénodermatose
- Photosensitive occipital lobe epilepsy
- PHPV
- PHSH
- PHTS
- Phyllodes tumor of the breast
- Phyllodes tumor of the prostate
- Phyllodes type of atypical prostatic hyperplasia
- Phytanic-CoA hydroxylase deficiency
- Phytosterolemia
- PI3K delta activating mutations causing senescent T cells, lymphadenopathy and immunodeficiency
- PIC
- Piccardi-Lassueur-Little syndrome
- Piebald trait-neurologic defects syndrome
- Piebaldism
- Pierpont syndrome
- Pierquin syndrome
- Pierre Robin sequence associated with a chromosomal anomaly
- Pierre Robin sequence associated with bone disease
- Pierre Robin sequence associated with branchial archs anomalies
- Pierre Robin sequence associated with collagen disease
- Pierre Robin sequence-congenital heart defect-talipes syndrome
- Pierre Robin sequence-faciodigital anomaly syndrome
- Pierre Robin sequence-hyperphalangy-clinodactyly syndrome
- Pierre Robin sequence-oligodactyly syndrome
- Pierre Robin syndrome associated with a chromosomal anomaly
- Pierre Robin syndrome associated with bone disease
- Pierre Robin syndrome associated with branchial archs anomalies
- Pierre Robin syndrome associated with collagen disease
- Pierre Robin syndrome-congenital heart defect-talipes syndrome
- Pierre Robin syndrome-faciodigital anomaly syndrome
- Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome
- Pierson syndrome
- PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis
- PIEZO1-related generalized lymphatic dysplasia with systemic involvement
- PIEZO1-related LRHF/GLD
- PIEZO1-related lymphatic-related hydrops fetalis
- PIFP
- PIG
- PIGG-CDG
- PIGL-CDG
- PIGM-CDG
- Pigment anomaly-ectrodactyly-hypodontia syndrome
- Pigmentary disorder with deafness
- Pigmentary disorder with hearing loss
- Pigmentary hairy epidermal nevus
- Pigmentary orthochromatic leukodystrophy
- Pigmentation anomaly of the skin
- Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
- Pigmented hairy epidermal naevus
- Pigmented hairy epidermal nevus
- Pigmented paravenous retinochoroidal atrophy
- PIGN-CDG
- PIGT-CDG
- PIHL
- PIK3CA-related overgrowth syndrome
- PILA
- Pilarowski-Bjornsson syndrome
- Pili annulati
- Pili bifurcati
- Pili gemini
- Pili multigemini
- Pili torti
- Pili torti-developmental delay-neurological abnormalities syndrome
- Pili torti-onychodysplasia syndrome
- Pili trianguli et canaliculi
- Pillay syndrome
- Pilocytic astrocytoma
- Pilocytic astrocytoma with histological features of anaplasia
- Pilodental dysplasia-refractive errors syndrome
- Pilomatricoma
- Pilomatrix carcinoma
- Pilomatrix dysplasia
- Pilomatrixoma
- Pilomyxoid astrocytoma
- Pineal parenchymal tumor of intermediate differentiation
- Pineal tumor of neuroepithelial tissue
- Pineoblastoma
- Pineocytoma
- Pingelapese blindness
- Pinheiro-Freire Maia-Miranda syndrome
- Pink disease
- Pinnae and external auditory canal anomaly
- Pinnae fistula or cyst
- PIOL
- Pitt-Hopkins syndrome
- Pituicytoma
- Pituitary adenoma
- Pituitary apoplexy
- Pituitary carcinoma
- Pituitary corticotroph micro-adenoma
- Pituitary deficiency
- Pituitary deficiency due to empty sella turcica syndrome
- Pituitary deficiency due to Rathke cleft cysts
- Pituitary dermoid and epidermoid cysts
- Pituitary gigantism
- Pituitary hormone deficiency of meningeal origin
- Pituitary hormone deficiency of tumoral origin
- Pituitary hormone deficiency of vascular origin
- Pituitary hormone deficiency secondary to a granulomatous disease
- Pituitary hormone deficiency secondary to storage disease
- Pituitary lactotrophic adenoma
- Pituitary stalk interruption syndrome
- Pituitary thyrotrophic adenoma
- Pituitary tumor
- Pituitary tumor apoplexy
- Pituitary-dependent Cushing syndrome
- Pityriasis rubra pilaris
- Piussan-Lenaerts-Mathieu syndrome
- PJS
- PKAN
- PKAN, atypical form
- PKAN, classic form
- PKDTS
- PKDYS
- PKU
- PKU type 2
- PLA2G4A-related platelet dysfunction
- PLA2G6-associated neurodegeneration
- PLA2G6-related dystonia-parkinsonism
- PLAA-associated neurodevelopmental disorder
- PLAAND
- PLAAT3-related lipodystrophy syndrome
- Placenta accreta spectrum
- Placenta accreta spectrum disorder
- Placental insufficiency
- Placental site trophoblastic tumor
- PLACK syndrome
- Plague
- PLAID
- Plamoplantar hyperkeratosis nummularis
- Plamoplantar keratoderma nummularis
- PLAN
- PLAN
- Plantar fibromatosis
- Plantar flexion contracture
- Plantar lipomatosis-facial dysmorphism-developmental delay syndrome
- Plantar lipomatosis-unusual facies-developmental delay syndrome
- Plaque-form urticaria pigmentosa
- Plasma cell leukemia
- Plasma cell myeloma
- Plasma cell tumor
- Plasma thromboplastin antecedent deficiency
- Plasmablastic lymphoma
- Plasmacytoma
- Plasminogen deficiency type 1
- Plastic bronchitis
- Platelet alpha-granule deficiency
- Platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency
- Platelet type-von Willebrand disease
- Platinum oculocutaneous albinism
- Platyspondylic dysplasia, Torrance type
- Platyspondylic dysplasia, Torrance-Luton type
- Platyspondylic lethal skeletal dysplasia, Torrance type
- Platyspondyly-amelogenesis imperfecta syndrome
- PLCA
- PLCG2-associated antibody deficiency and immune dysregulation
- PLCH
- PLCNA
- PLEC-related intermediate EBS without extracutaneous involvement
- PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement
- Plectin-related LGMD R17
- Plectin-related limb-girdle muscular dystrophy R17
- Pleomorphic liposarcoma
- Pleomorphic rhabdomyosarcoma
- Pleomorphic xanthoastrocytoma
- Pleural empyema
- Pleural mesothelioma
- Pleural mesothelioma in situ
- Pleuro-pericardial cyst
- Pleuropulmonary blastoma
- Pleuropulmonary blastoma familial tumor and dysplasia syndrome
- Pleuropulmonary blastoma type 1
- Pleuropulmonary blastoma type 2
- Pleuropulmonary blastoma type 3
- PLG-related HAE with normal C1 inhibitor
- PLG-related hereditary angioedema with normal C1Inh
- PLIN1-related familial partial lipodystrophy
- PLIN1-related FPLD
- PLIN4-related distal myopathy
- PLMT syndrome
- PLO
- PLO-SL
- PLOSL
- Plott syndrome
- PLP1 null syndrome
- PLS
- PLS
- PLS
- PLSD-T
- Plumbism
- Plummer-Vinson syndrome
- PM
- PMA
- PMD
- PMDS
- PME
- PME type 2
- PME type 3
- PME type 5
- PME type 6
- PME type 7
- PME type 8
- PME type 9
- PMED
- PML
- PMLD
- PMLD1
- PMM2-CDG
- PMP
- PMP2-related Charcot-Marie-Tooth disease type 1
- PMP2-related Charcot-Marie-Tooth neuropathy type 1
- PMP2-related CMT1
- PMP2-related hereditary motor and sensory neuropathy type 1
- PMP22-RAI1 contiguous gene duplication syndrome
- PMPCB deficiency
- PMPS
- PMSE syndrome
- PNAC
- PNEN
- PNET
- Pneumoblastoma
- Pneumococcal meningitis
- Pneumoconiosis
- Pneumocystosis
- Pneumonia caused by Pseudomonas aeruginosa infection
- PNH
- PNP deficiency
- PNPase deficiency
- PNPO-related neonatal epileptic encephalopathy
- PNS
- POADS
- POEMS syndrome
- POF associated with fragile X premutation
- POGLUT1-related LGMD R21
- POGLUT1-related limb-girdle muscular dystrophy R21
- POH
- POI associated with fragile X premutation
- Poikiloderma of Kindler
- Poikiloderma of Rothmund-Thomson
- Poikiloderma of Rothmund-Thomson type 1
- Poikiloderma of Rothmund-Thomson type 2
- Poikiloderma with neutropenia
- Poikiloderma with neutropenia, Clericuzio type
- Poikiloderma-alopecia-retrognathism-cleft palate syndrome
- POIKTMP syndrome
- Poirier-Bienvenue neurodevelopmental syndrome
- POIS
- Poland anomaly
- Poland sequence
- Poland syndrome
- POLD
- POLE
- Poliomyelitis
- POLR-related leukodystrophy
- Poly-X
- Polyarteritis nodosa
- Polyarticular JIA
- Polyarticular juvenile idiopathic arthritis
- Polychondropathia
- Polyclonal hyperviscosity syndrome
- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
- Polycythemia
- Polycythemia rubra vera
- Polycythemia vera
- Polydactyly of a biphalangeal thumb and/or hallux
- Polydactyly of a triphalangeal thumb
- Polydactyly of an index finger
- Polydactyly postaxial with median cleft of upper lip
- Polydactyly-cleft lip/palate-psychomotor retardation syndrome
- Polydactyly-myopia syndrome
- Polyembryoma
- Polyendocrine-polyneuropathy syndrome
- Polyendocrinopathy
- Polyepiphyseal dysplasia
- Polyepiphyseal dysplasia type 1
- Polyepiphyseal dysplasia type 4
- Polyepiphyseal dysplasia type 5
- Polyglucosan body myopathy type 1
- Polyglucosan body myopathy type 2
- Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
- Polymalformative genetic syndrome with increased risk of developing cancer
- Polymastia
- Polymerase proofreading-related adenomatous polyposis
- Polymicrogyria
- Polymicrogyria due to TUBB2B mutation
- Polymicrogyria with optic nerve hypoplasia
- Polymorphic eruption of pregnancy
- Polymorphic ventricular tachycardia induced by catecholamines
- Polymorphic vitelline macular degeneration
- Polymyositis
- Polyneuropathy associated with IgM monoclonal gammopathy
- Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG
- Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome
- Polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome
- Polyneuropathy-hand defect syndrome
- Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
- Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
- Polyostotic fibrous dysplasia
- Polyploidy syndrome
- Polypoid prolapsing folds
- Polyrhinia
- Polyrrhinia
- Polysomy of X chromosome syndrome
- Polysyndactyly
- Polysyndactyly, Haas type
- Polysyndactyly-cardiac malformation syndrome
- Polyvalvular heart disease syndrome
- POMA
- POMA syndrome
- POMC deficiency
- POMGNT1-related LGMD R15
- POMGNT1-related limb-girdle muscular dystrophy R15
- POMGNT2-related LGMD R24
- POMGNT2-related limb-girdle muscular dystrophy R24
- POMGNT2-related muscular dystrophy
- Pompe disease
- Pompe disease, infantile onset
- Pompe disease, late-onset
- POMT1-related LGMD R11
- POMT1-related limb-girdle muscular dystrophy R11
- POMT2-related LGMD R14
- POMT2-related limb-girdle muscular dystrophy R14
- Pontiac fever
- Pontine autosomal dominant microangiopathy with leukoencephalopathy
- Pontine tegmental cap dysplasia
- Pontocerebellar hypoplasia due to CHMP1A mutation
- Pontocerebellar hypoplasia due to TBC1D23
- Pontocerebellar hypoplasia type 1
- Pontocerebellar hypoplasia type 10
- Pontocerebellar hypoplasia type 11
- Pontocerebellar hypoplasia type 12
- Pontocerebellar hypoplasia type 13
- Pontocerebellar hypoplasia type 14
- Pontocerebellar hypoplasia type 2
- Pontocerebellar hypoplasia type 3
- Pontocerebellar hypoplasia type 4
- Pontocerebellar hypoplasia type 6
- Pontocerebellar hypoplasia type 7
- Pontocerebellar hypoplasia type 8
- Pontocerebellar hypoplasia type 9
- Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome
- Pontoneocerebellar atrophy
- Pontoneocerebellar hypoplasia
- Poorly differentiated neuroendocrine carcinoma of the bladder
- Poorly differentiated neuroendocrine carcinoma of the cervix uteri
- Poorly differentiated neuroendocrine carcinoma of the corpus uteri
- Poorly differentiated neuroendocrine carcinoma of the endometrium
- Poorly differentiated neuroendocrine cervical carcinoma
- Poorly differentiated thymic neuroendocrine carcinoma
- Poorly-differentiated NEN of pancreas
- Poorly-differentiated neuroendocrine neoplasm of pancreas
- Poorly-differentiated pancreatic NEN
- Poorly-differentiated pancreatic neuroendocrine neoplasm
- POPH
- Popliteal pterygium syndrome
- Popliteal web syndrome
- POR deficiency
- PORD
- Porencephaly
- Porencephaly-cerebellar hypoplasia-internal malformations syndrome
- Porencephaly-microcephaly-bilateral congenital cataract syndrome
- Poretti-Boltshauser syndrome
- Porokeratosis
- Porokeratosis of Mibelli
- Porokeratosis plantaris palmaris et disseminata
- Porokeratosis punctata palmaris et plantaris
- Porokeratotic eccrine nevus
- Porokeratotic eccrine ostial and dermal duct nevus
- Porphyria
- Porphyria cutanea tarda
- Porphyria cutanea tarda type I
- Porphyria cutanea tarda type II
- Porphyria due to ALA dehydratase deficiency
- Porphyria due to ALAD deficiency
- Porphyria due to delta-aminolevulinate dehydratase deficiency
- Porphyria of Doss
- Porphyria variegata
- Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
- Portopulmonary hypertension
- Portosinusoidal vascular disease
- Posner-Schlossman syndrome
- Post 5-alpha-reductase inhibitors treatment syndrome
- Post-selective serotonin reuptake inhibitor sexual dysfunction
- Post-SSRI sexual dysfunction
- Post-transplant lymphoproliferative disease
- Post-traumatic pituitary deficiency
- Postanginal sepsis secondary to orophyngeal infection
- Postaxial acrodysostosis
- Postaxial acrofacial dysostosis
- Postaxial polydactyly type A
- Postaxial polydactyly type B
- Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
- Postaxial polydactyly-dental and vertebral anomalies syndrome
- Postaxial polydactyly-intellectual disability syndrome
- Postaxial syndactyly with metacarpal synostosis
- Postaxial tetramelic oligodactyly
- Postcardiotomy right ventricular failure
- Postencephalitic parkinsonism
- Posterior amorphous corneal dystrophy
- Posterior amorphous stromal dystrophy
- Posterior column ataxia-retinitis pigmentosa syndrome
- Posterior corneal dystrophy
- Posterior cortical atrophy
- Posterior extramedullary conus spinal cord lipoma
- Posterior fossa malformation
- Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
- Posterior polymorphous corneal dystrophy
- Posterior polymorphous dystrophy
- Posterior urethral valve
- Posterior uveitis
- Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
- Postinfectious autoimmune disease with chorea
- Postinfectious cerebellitis
- Postinfectious vasculitis
- Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
- Postorgasmic illness syndrome
- Postpartum cardiomyopathy
- Postpartum psychosis
- Postpolio sequelae
- Postpolio syndrome
- Postpoliomyelitic syndrome
- Postpoliomyelitis sequelae
- Postpoliomyelitis syndrome
- Postsynaptic congenital myasthenic syndromes
- Posttransplant acute limbic encephalitis
- Postural orthostatic tachycardia syndrome due to NET deficiency
- POT
- Potassium-aggravated myotonia
- Potato-grubbing palsy
- Potocki-Lupski syndrome
- Potocki-Shaffer syndrome
- POTS due to NET deficiency
- Potter sequence-cleft lip/palate-cardiopathy syndrome
- Pouchitis
- Powell-Chandra-Saal syndrome
- Powell-Venencie-Gordon syndrome
- PPA
- PPAOS
- PPAP
- PPARG-associated congenital generalized lipodystrophy
- PPARG-related familial partial lipodystrophy
- PPARG-related FPLD
- PPB familial tumor and dysplasia syndrome
- PPBFTDS
- PPBL
- PPC
- PPCD
- PPD
- PPD1
- PPD2
- PPD3
- PPD4
- PPFG
- PPI-REE
- PPI-responsive esophageal eosinophilia
- PPIRee
- PPK mutilans and deafness
- PPK mutilans and hearing loss
- PPK nummularis
- PPK, Nagashima type
- PPK-CA, Stevanovic type
- PPK-CA, Wallis type
- PPK-deafness syndrome
- PPKP1
- PPKP2
- PPKP3
- PPKP3 without elastoidosis
- PPM
- PPM-X
- PPNET
- PPoma
- PPP
- PPP2R5D-related neurodevelopmental disorder
- PPPK3 without elastoidosis
- PPPP
- PPRCA
- PPVS
- PRAAS
- Prader-Labhart-Willi syndrome
- Prader-Willi habitus-osteopenia-camptodactyly syndrome
- Prader-Willi syndrome
- Prader-Willi syndrome due to imprinting mutation
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
- Prader-Willi syndrome due to paternal 15q11q13 deletion
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
- Prader-Willi syndrome due to translocation
- Prader-Willi-like syndrome
- Prader-Willi-like syndrome due to microdeletion 6q16
- Prata-Liberal-Goncalves syndrome
- PRC-2 complex-related overgrowth spectrum
- PRDM8-related progressive myoclonus epilepsy
- Pre-Descemet corneal dystrophy
- Preaxial acrodysostosis
- Preaxial brachydactyly, PAX3 type
- Preaxial deficiency-postaxial polydactyly-hypospadias syndrome
- Preaxial digit brachydactyly-webbed fingers
- Preaxial polydactyly type 1
- Preaxial polydactyly type 2
- Preaxial polydactyly type 3
- Preaxial polydactyly type 4
- Preaxial polydactyly-colobomata-intellectual disability syndrome
- Precalicial canalicular ectasia
- Precursor B-cell acute lymphoblastic leukemia
- Precursor B-cell acute lymphoblastic leukemia/lymphoma
- Precursor B-cell acute lymphocytic leukemia
- Precursor B-cell acute lymphocytic leukemia/lymphoma
- Precursor lymphoid neoplasm
- Precursor T-cell acute lymphoblastic leukemia
- Precursor T-cell acute lymphoblastic leukemia/lymphoma
- Precursor T-cell acute lymphocytic leukemia
- Precursor T-cell acute lymphocytic leukemia/lymphoma
- Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication
- Predisposition to invasive fungal disease due to CARD9 deficiency
- Predisposition to severe viral infection due to IRF7 deficiency
- Predisposition to severe viral infection due to STAT1 deficiency
- Predominantly large-vessel vasculitis
- Predominantly medium-vessel vasculitis
- Predominantly small-vessel vasculitis
- Preeclampsia
- Pregnancy and lactation-associated osteoporosis
- Pregnancy induced osteoporosis
- Pregnancy-related cholestasis
- Premature aging
- Premature aging appearance-developmental delay-cardiac arrhythmia syndrome
- Premature aging syndrome, Penttinen type
- Premature closure of the arterial duct
- Premature closure of the patent ductus arteriosus
- Premature degenerative osteoarthropathy of the hip
- Premature ovarian failure associated with fragile X premutation
- Prenatal benign hypophosphatasia
- Prenatal benign phosphoethanolaminuria
- Prenatal benign Rathbun disease
- Prenatal methylmercury poisoning
- Prenatal-onset spinal muscular atrophy with congenital bone fractures
- Prepubertal anorexia nervosa
- Pressure-induced localized lipoatrophy
- Presynaptic congenital myasthenic syndromes
- Prieto-Badia-Mulas syndrome
- Prieur-Griscelli syndrome
- Primary acalvaria
- Primary achalasia
- Primary acquired PRCA
- Primary acquired pure red cell aplasia
- Primary acquired red cell aplasia
- Primary acquired sideroblastic anemia
- Primary Addison disease
- Primary adrenal hypoplasia
- Primary adrenal insufficiency
- Primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency
- Primary adult heart tumor
- Primary alpha-dystroglycanopathy
- Primary anetoderma
- Primary angiitis of the central nervous system
- Primary antibody deficiency
- Primary Autoimmune Cerebellar Ataxia
- Primary autoimmune enteropathy
- Primary autoimmune red cell aplasia
- Primary avascular necrosis
- Primary AVN
- Primary basilar invagination
- Primary benign peritoneal tumor
- Primary biliary cholangitis
- Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome
- Primary biliary cirrhosis
- Primary biliary cirrhosis and systemic scleroderma
- Primary bone and joint tuberculosis
- Primary bone dysplasia
- Primary bone dysplasia with decreased bone density
- Primary bone dysplasia with defective bone mineralization
- Primary bone dysplasia with disorganized development of skeletal components
- Primary bone dysplasia with increased bone density
- Primary bone dysplasia with micromelia
- Primary bone dysplasia with multiple joint dislocations
- Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
- Primary bone lymphoma
- Primary brain lymphoma
- Primary C-ALCL
- Primary calpainopathy
- Primary CD59 deficiency
- Primary central nervous system lymphoma
- Primary central nervous system vasculitis
- Primary central precocious puberty in boy
- Primary central precocious puberty in male
- Primary ciliary dyskinesia
- Primary ciliary dyskinesia-retinitis pigmentosa syndrome
- Primary CNS lymphoma
- Primary condylar hyperplasia
- Primary congenital erythrocytosis
- Primary congenital glaucoma
- Primary congenital hypothyroidism
- Primary congenital hypothyroidism due to developmental anomaly
- Primary congenital hypothyroidism without thyroid developmental anomaly
- Primary CPP in boy
- Primary CPP in male
- Primary cryoglobulinemia
- Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma
- Primary cutaneous amyloidosis
- Primary cutaneous anaplastic large cell lymphoma
- Primary cutaneous B-cell lymphoma
- Primary cutaneous CD30+ T-cell lymphoproliferative disease
- Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma
- Primary cutaneous diffuse large B-cell lymphoma, leg type
- Primary cutaneous epidermotropic cytotoxic CD8+ T-cell lymphoma
- Primary cutaneous follicle center lymphoma
- Primary cutaneous gamma/delta-positive T-cell lymphoma
- Primary cutaneous Ki-1+ T-cell lymphoproliferative disease
- Primary cutaneous lymphoma
- Primary cutaneous marginal zone B-cell lymphoma
- Primary cutaneous peripheral T-cell lymphoma NOS
- Primary cutaneous peripheral T-cell lymphoma not otherwise specified
- Primary cutaneous plasmacytosis
- Primary cutaneous T-cell lymphoma
- Primary cutaneous tuberculosis
- Primary cutaneous unspecified peripheral T-cell lymphoma
- Primary cutis verticis gyrata
- Primary desmosis coli
- Primary diffuse large B-cell lymphoma of the virtreoretina
- Primary dystonia with mixed phenotype
- Primary dystonia, DYT13 type
- Primary dystonia, DYT17 type
- Primary dystonia, DYT2 type
- Primary dystonia, DYT21 type
- Primary dystonia, DYT27 type
- Primary dystonia, DYT4 type
- Primary dystonia, DYT6 type
- Primary dystroglycanopathy
- Primary early-onset glaucoma
- Primary effusion lymphoma
- Primary eosinophilic gastrointestinal disease
- Primary erythermalgia
- Primary erythromelalgia
- Primary essential cutis verticis gyrata
- Primary failure of tooth eruption
- Primary familial amyloidosis of the cornea
- Primary familial and congenital polycythemia
- Primary familial brain calcification
- Primary familial polycythemia
- Primary Fanconi renal syndrome
- Primary Fanconi renotubular syndrome
- Primary genito-urinary tuberculosis
- Primary germ cell tumor of central nervous system
- Primary germ cell tumor of CNS
- Primary GH insensitivity
- Primary GH resistance
- Primary growth hormone insensitivity
- Primary growth hormone resistance
- Primary hemophagocytic lymphohistiocytosis
- Primary hemophagocytic lymphohistiocytosis with hypopigmentation
- Primary hemophagocytic lymphohistiocytosis without hypopigmentation
- Primary hepatic neuroendocrine carcinoma
- Primary hepatolithiasis
- Primary HES
- Primary HLH
- Primary HLH with hypopigmentation
- Primary HLH without hypopigmentation
- Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
- Primary hypereosinophilic syndrome
- Primary hypergonadotropic hypogonadism-partial alopecia syndrome
- Primary hyperkalemic periodic paralysis
- Primary hyperoxaluria
- Primary hyperoxaluria type 1
- Primary hyperoxaluria type 2
- Primary hyperoxaluria type 3
- Primary hyperPP
- Primary hypertrophic osteoarthropathy
- Primary hypogammaglobulinemia
- Primary hypomagnesemia with hypercalciuria and nephrocalcinosis
- Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
- Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
- Primary hypomagnesemia with secondary hypocalcemia
- Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome
- Primary hypomagnesemia-refractory seizures-intellectual disability syndrome
- Primary hypophysitis
- Primary ILD in childhood and adulthood
- Primary ILD in childhood and adulthood due to alveolar structure disorder
- Primary ILD in childhood and adulthood due to alveolar vascular disorder
- Primary ILD specific to adulthood
- Primary ILD specific to childhood
- Primary ILD specific to childhood due to alveolar structure disorder
- Primary ILD specific to childhood due to alveolar vascular disorder
- Primary ILD specific to childhood due to pulmonary surfactant protein anomalies
- Primary immunodeficiency
- Primary immunodeficiency due to a defect in adaptive immunity
- Primary immunodeficiency due to a defect in innate immunity
- Primary immunodeficiency due to MCM4 deficiency
- Primary immunodeficiency due to RORC mutation
- Primary immunodeficiency syndrome due to LAMTOR2 deficiency
- Primary immunodeficiency syndrome due to P14 deficiency
- Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency
- Primary immunodeficiency syndrome due to P14/Late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 deficiency
- Primary immunodeficiency with multifaceted aberrant lymphoid immunity
- Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- Primary immunodeficiency with post-MMR vaccine viral infection
- Primary immunodeficiency with predisposition to severe viral infection
- Primary inferior vena cava aneurysm
- Primary insulin-like growth factor deficiency
- Primary interstitial lung disease in childhood and adulthood
- Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder
- Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder
- Primary interstitial lung disease specific to adulthood
- Primary interstitial lung disease specific to childhood
- Primary interstitial lung disease specific to childhood due to alveolar structure disorder
- Primary interstitial lung disease specific to childhood due to alveolar vascular disorder
- Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
- Primary intestinal lymphangiectasia
- Primary intrahepatic lithiasis
- Primary intralymphatic angioendothelioma
- Primary intraocular lymphoma
- Primary intraocular non-Hodgkin lymphoma
- Primary intraosseous venous malformation
- Primary laryngeal lymphangioma
- Primary lateral sclerosis
- Primary lipodystrophy
- Primary localized amyloidosis
- Primary localized cutaneous amyloidosis
- Primary localized cutaneous nodular amyloidosis
- Primary lymphedema
- Primary lymphedema with systemic or visceral involvement
- Primary lymphedema without systemic or visceral involvement
- Primary lymphoid conjunctival tumor
- Primary lymphoma of the conjunctiva
- Primary macular atrophy
- Primary malignant pericardial mesothelioma
- Primary malignant peritoneal mesothelioma
- Primary malignant peritoneal tumor
- Primary mediastinal clear cell lymphoma of B-cell type
- Primary mediastinal large B-cell lymphoma
- Primary megaureter, adult-onset form
- Primary melanocytic lesion of central nervous system
- Primary melanocytic lesion of CNS
- Primary melanocytic tumor of central nervous system
- Primary melanocytic tumor of CNS
- Primary melanoma of the central nervous system
- Primary melanoma of the CNS
- Primary membranoproliferative glomerulonephritis
- Primary membranous glomerulonephritis
- Primary membranous nephropathy
- Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
- Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
- Primary MPGN
- Primary musculoskeletal tuberculosis
- Primary myelofibrosis
- Primary myoclonus
- Primary neutral lipid storage disease with severe cardiovascular involvement
- Primary non-essential cutis verticis gyrata
- Primary non-gestational choriocarcinoma of ovary
- Primary non-gestational ovarian choriocarcinoma
- Primary oculocerebral lymphoma
- Primary oculocerebral non-Hodgkin lymphoma
- Primary organ-specific lymphoma
- Primary orthostatic disorder
- Primary orthostatic hypotension
- Primary orthostatic tremor
- Primary osteodysplasia
- Primary osteodysplasia with decreased bone density
- Primary osteodysplasia with defective bone mineralization
- Primary osteodysplasia with disorganized development of skeletal components
- Primary osteodysplasia with increased bone density
- Primary osteodysplasia with micromelia
- Primary osteodysplasia with multiple joint dislocations
- Primary osteodysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
- Primary osteolysis
- Primary ovarian insufficiency associated with fragile X premutation
- Primary PAN
- Primary pediatric heart tumor
- Primary periarteritis nodosa
- Primary pericardial mesothelioma
- Primary peritoneal carcinoma
- Primary peritoneal serous carcinoma
- Primary peritoneal tumor
- Primary plasmacytoma of the bone
- Primary polyarteritis nodosa
- Primary progressive aphasia
- Primary progressive apraxia of speech
- Primary progressive freezing gait
- Primary pulmonary arterial hypertension
- Primary pulmonary hypoplasia
- Primary pulmonary lymphoma
- Primary pulmonary tuberculosis
- Primary pulmonary vein stenosis
- Primary qualitative or quantitative defects of alpha-dystroglycan
- Primary renal tubular acidosis
- Primary retention of teeth
- Primary sclerosing cholangitis
- Primary short bowel syndrome
- Primary Sjögren syndrome
- Primary Sjögren-Gougerot syndrome
- Primary skeletal dysplasia
- Primary skeletal dysplasia with decreased bone density
- Primary skeletal dysplasia with defective bone mineralization
- Primary skeletal dysplasia with disorganized development of skeletal components
- Primary skeletal dysplasia with increased bone density
- Primary skeletal dysplasia with micromelia
- Primary skeletal dysplasia with multiple joint dislocations
- Primary skeletal dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
- Primary skin tuberculosis
- Primary superior vena cava aneurysm
- Primary syringomyelia
- Primary systemic ALCL
- Primary systemic amyloidosis
- Primary tethered cord syndrome
- Primary tethered spinal cord syndrome
- Primary thymic epithelial neoplasm
- Primary thymic epithelial neoplasm type A
- Primary thymic epithelial neoplasm type AB
- Primary thymic epithelial neoplasm type B
- Primary thymic epithelial tumor
- Primary thymic epithelial tumor type A
- Primary thymic epithelial tumor type AB
- Primary thymic epithelial tumor type B
- Primary torsion dystonia with predominant craniocervical or upper limb onset
- Primary triglyceride deposit cardiomyovasculopathy
- Primary tuberculosis of the digestive system
- Primary tuberculous lymphadenitis
- Primary tuberculous lymphadenopathy
- Primary unilateral adrenal hyperplasia
- Primary vasculitis of the central nervous system
- Primary vitreoretinal large B-cell lymphoma
- Primitive neuroectodermal tumor of the cervix uteri
- Primitive neuroectodermal tumor of the corpus uteri
- Primitive renal tubule syndrome
- Primordial microcephalic dwarfism, Crachami type
- Primrose syndrome
- Prion protein systemic amyloidosis
- PRKAR1B-related neurodegenerative dementia with intermediate filaments
- PRL-secreting pituitary adenoma
- PRLoma
- Proaccelerin deficiency
- Proboscis lateralis
- Progeria
- Progeria-short stature-pigmented nevi syndrome
- Progeroid and marfanoid aspect-lipodystrophy syndrome
- Progeroid features-hepatocellular carcinoma predisposition syndrome
- Progeroid syndrome
- Progeroid syndrome, De Barsy type
- Progeroid syndrome, Petty type
- Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome
- Progressive autosomal recessive ataxia-deafness syndrome
- Progressive autosomal recessive ataxia-sensorineural hearing loss syndrome
- Progressive avascular necrosis of the lunate bone
- Progressive bifocal chorioretinal atrophy
- Progressive cavitating leukoencephalopathy
- Progressive cephalothoracic lipodystrophy
- Progressive cerebello-cerebral atrophy
- Progressive cone dystrophy
- Progressive cutaneous systemic scleroderma
- Progressive cutaneous systemic sclerosis
- Progressive deafness with stapes fixation
- Progressive deforming osteogenesis imperfecta
- Progressive dementia with neuroserpin inclusion bodies
- Progressive diaphyseal dysplasia
- Progressive diffuse palmoplantar keratoderma
- Progressive diffuse PPK
- Progressive encephalomyelitis with rigidity and myoclonus
- Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy
- Progressive encephalopathy with leukodystrophy due to DECR deficiency
- Progressive encephalopathy with severe infantile anorexia
- Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome
- Progressive epilepsy-intellectual disability syndrome, Finnish type
- Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
- Progressive external ophthalmoplegia
- Progressive external ophthalmoplegia and scoliosis
- Progressive external ophthalmoplegia-myopathy-emaciation syndrome
- Progressive facial hemiatrophy
- Progressive familial intrahepatic cholestasis
- Progressive familial intrahepatic cholestasis type 1
- Progressive familial intrahepatic cholestasis type 2
- Progressive familial intrahepatic cholestasis type 3
- Progressive familial intrahepatic cholestasis type 4
- Progressive familial intrahepatic cholestasis type 5
- Progressive foveal dystrophy
- Progressive hearing loss with stapes fixation
- Progressive hemifacial atrophy
- Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective Rabenosyn-5
- Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN
- Progressive isolated segmental anhidrosis
- Progressive massive osteolysis
- Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
- Progressive multifocal leukoencephalitis
- Progressive multifocal leukoencephalopathy
- Progressive muscular atrophy
- Progressive muscular dystrophy
- Progressive myoclonic epilepsy
- Progressive myoclonic epilepsy due to CERS1 deficiency
- Progressive myoclonic epilepsy due to KCTD7 deficiency
- Progressive myoclonic epilepsy due to KV3.1 deficiency
- Progressive myoclonic epilepsy due to LMNB2 deficiency
- Progressive myoclonic epilepsy type 1
- Progressive myoclonic epilepsy type 2
- Progressive myoclonic epilepsy type 3
- Progressive myoclonic epilepsy type 4
- Progressive myoclonic epilepsy type 5
- Progressive myoclonic epilepsy type 6
- Progressive myoclonic epilepsy type 7
- Progressive myoclonic epilepsy type 8
- Progressive myoclonic epilepsy type 9
- Progressive myoclonic epilepsy with dystonia
- Progressive myoclonic epilepsy with neuroserpin inclusion bodies
- Progressive myoclonus epilepsy
- Progressive myoclonus epilepsy type 1
- Progressive myoclonus epilepsy type 2
- Progressive myoclonus epilepsy type 3
- Progressive myoclonus epilepsy type 4
- Progressive myoclonus epilepsy type 5
- Progressive myoclonus epilepsy type 6
- Progressive myoclonus epilepsy type 7
- Progressive myoclonus epilepsy type 8
- Progressive myoclonus epilepsy type 9
- Progressive myoclonus epilepsy with dystonia
- Progressive neuronal degeneration of childhood with liver disease
- Progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome
- Progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome
- Progressive nodular histiocytosis
- Progressive non-fluent aphasia
- Progressive non-infectious anterior vertebral fusion
- Progressive osseous heteroplasia
- Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
- Progressive polyneuropathy with bilateral striatal necrosis
- Progressive pseudorheumatoid arthropathy of childhood
- Progressive pseudorheumatoid dysplasia
- Progressive retinal dystrophy due to retinol transport defect
- Progressive scapulohumeroperoneal distal myopathy
- Progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome
- Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
- Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
- Progressive supranuclear palsy
- Progressive supranuclear palsy-apraxia of speech syndrome
- Progressive supranuclear palsy-corticobasal syndrome
- Progressive supranuclear palsy-predominant parkinsonism syndrome
- Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
- Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
- Progressive symmetric erythrokeratodermia
- Progressive symmetric erythrokeratodermia, Gottron type
- Prolactin-secreting pituitary adenoma
- Prolactinoma
- Prolidase deficiency
- Proliferating trichilemmal cyst
- Proliferation of large granular lymphocytes
- Proliferative angiopathy
- Proliferative vasculopathy and hydranencephaly/hydrocephaly
- Proline oxidase deficiency
- Prolonged electroretinal response suppression
- Prolymphocytic variant of hairy cell leukemia
- Prolymphocytic variant of HCL
- Prominent glabella-microcephaly-hypogenitalism syndrome
- Properdin deficiency
- Propionic acidemia
- Propionic aciduria
- Propionyl-CoA carboxylase deficiency
- Propylthiouracil embryofetopathy
- Propylthiouracil embryopathy
- PROS
- Proteasome disability syndrome
- Proteasome-associated autoinflammatory syndrome
- Protein defect of cystin transport
- Protein S acquired deficiency
- Proteoglycan-related bone disorder
- Proteus syndrome
- Proteus-like syndrome
- Prothrombin deficiency
- Proton-pump inhibitor-responsive esophageal eosinophilia
- Protoplasmic astrocytoma
- Protoporphyrinogen oxidase deficiency
- Proud syndrome
- Proud-Levine-Carpenter syndrome
- Proximal 11p deletion syndrome
- Proximal 16p11.2 microdeletion syndrome
- Proximal 16p11.2 microduplication syndrome
- Proximal del(16)(p11.2)
- Proximal del(4)(q25)
- Proximal dup(16)(p11.2)
- Proximal monosomy 16p11.2
- Proximal monosomy 4q25
- Proximal myopathy with extrapyramidal signs
- Proximal myopathy with focal depletion of mitochondria
- Proximal myotonic dystrophy
- Proximal myotonic myopathy
- Proximal renal tubular acidosis
- Proximal renal tubular acidosis with ocular abnormalities and intellectual disability
- Proximal spinal muscular atrophy
- Proximal spinal muscular atrophy type 1
- Proximal spinal muscular atrophy type 2
- Proximal spinal muscular atrophy type 3
- Proximal spinal muscular atrophy type 4
- Proximal symphalangism
- Proximal trisomy 16p11.2
- Proximal Xq28 duplication syndrome
- PrP systemic amyloidosis
- PRPP synthetase superactivity
- PRPS1 superactivity
- PRR12-related neuroocular syndrome
- PRS
- pRTA
- Prune belly syndrome
- PRUNE1-related neurological syndrome
- Pruriginous dystrophic epidermolysis bullosa
- Pruritic urticarial papules and plaques of pregnancy
- PsAPASH syndrome
- PSAT deficiency, infantile/juvenile form
- PSC
- Pseudo-Angelman syndrome
- Pseudo-Best disease
- Pseudo-Demons-Meigs syndrome
- Pseudo-Hurler polydystrophy
- Pseudo-Meigs syndrome
- Pseudo-membranous bronchitis
- Pseudo-Morquio syndrome type 2
- Pseudo-Morquio type II syndrome
- Pseudo-NALD
- Pseudo-neonatal adrenoleukodystrophy
- Pseudo-TORCH syndrome
- Pseudo-trisomy 13 syndrome
- Pseudo-vitelliform macular dystrophy
- Pseudo-von Willebrand disease
- Pseudo-von Willebrand disease type 2B
- Pseudoachondroplasia
- Pseudoachondroplastic dysplasia
- Pseudoachondroplastic spondyloepiphyseal dysplasia
- Pseudoadrenoleukodystrophy
- Pseudoaldosteronism
- Pseudoaminopterin syndrome
- Pseudocoma
- Pseudodiastrophic dysplasia
- Pseudohyperaldosteronism type 2
- Pseudohypoaldosteronism
- Pseudohypoaldosteronism type 1
- Pseudohypoaldosteronism type 2
- Pseudohypoaldosteronism type 2A
- Pseudohypoaldosteronism type 2B
- Pseudohypoaldosteronism type 2C
- Pseudohypoaldosteronism type 2D
- Pseudohypoaldosteronism type 2E
- Pseudohypoparathyroidism
- Pseudohypoparathyroidism type 1A
- Pseudohypoparathyroidism type 1B
- Pseudohypoparathyroidism type 1C
- Pseudohypoparathyroidism type 2
- Pseudohypoparathyroidism with Albright hereditary osteodystrophy
- Pseudohypoparathyroidism without Albright hereditary osteodystrophy
- Pseudoleprechaunism syndrome, Patterson type
- Pseudomyogenic hemangioendothelioma
- Pseudomyxoma peritonei
- Pseudopapillary ganglioglioneurocytoma
- Pseudopapillary neurocytoma with glial differentiation
- Pseudopapilledema
- Pseudopapilledema-blepharophimosis-hand anomalies syndrome
- Pseudopelade of Brocq
- Pseudoprogeria syndrome
- Pseudopseudohypoparathyroidism
- Pseudosarcomatous fasciitis
- Pseudosarcomatous fibromatosis
- Pseudothalidomide syndrome
- Pseudotumor cerebri
- Pseudotyphus of California
- Pseudounicornuate uterus
- Pseudovaginal perineoscrotal hypospadias
- Pseudovitamin D-deficient rickets
- Pseudoxanthoma elasticum
- Pseudoxanthoma elasticum-like papillary dermal elastolysis
- Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
- Pseudoxanthoma elasticum-like syndrome
- Pseudoxanthoma-like late-onset focal dermal elastosis
- Pseudoxanthomatous DCM
- Pseudoxanthomatous diffuse cutaneous mastocytosis
- PSIS
- Psittacosis
- Psoriasis-related JIA
- Psoriasis-related juvenile idiopathic arthritis
- Psoriatic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome
- PSP syndrome
- PSP-AOS
- PSP-CBS
- PSP-corticobasal syndrome
- PSP-p
- PSP-PAGF
- PSP-parkinsonism
- PSP-PNFA
- PSP-pure akinesia with gait freezing
- PSPH deficiency, infantile/juvenile form
- PSS
- PSS 2
- PSS type A
- PSS type B
- PSS1
- PSSD
- PSST
- PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome
- PSVD
- Psychogenic dystonia
- Psychogenic movement disorders
- Psychogenic purpura
- Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
- PT-VWD
- PTA deficiency
- PTC syndrome
- PTC-RCC
- PTCD
- PTEN hamartoma tumor syndrome
- Pterin-4 alpha-carbinolamine dehydratase deficiency
- Pterygium colli-intellectual disability-digital anomalies syndrome
- PTLAH
- PTLD
- Ptosis-strabismus-ectopic pupils syndrome
- Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
- Ptosis-vocal cord paralysis syndrome
- PTPR
- PTU embryofetopathy
- PTU embryopathy
- PUAH
- Pudendal algia
- Pudendal nerve entrapment syndrome
- Pudendal neuralgia
- Pudendal neuralgia by pudendal nerve entrapment
- Pudendal neuropathic pain syndrome
- Pudendal neuropathy
- Pudendalgia
- Puerperal psychosis
- Pulmonary agenesis
- Pulmonary alveolar microlithiasis
- Pulmonary alveolar proteinosis, Reunion island type
- Pulmonary anthrax
- Pulmonary arterial hypertension
- Pulmonary arterial hypertension associated with another disease
- Pulmonary arterial hypertension associated with chronic hemolytic anemia
- Pulmonary arterial hypertension associated with congenital heart disease
- Pulmonary arterial hypertension associated with connective tissue disease
- Pulmonary arterial hypertension associated with HIV infection
- Pulmonary arterial hypertension associated with portal hypertension
- Pulmonary arterial hypertension associated with schistosomiasis
- Pulmonary arteriovenous malformation
- Pulmonary artery coming from patent ductus arteriosus
- Pulmonary artery coming from the aorta
- Pulmonary artery hypoplasia
- Pulmonary artery or pulmonary branch anomaly
- Pulmonary atresia with ventricular septal defect
- Pulmonary atresia-intact ventricular septum syndrome
- Pulmonary blastoma
- Pulmonary branch stenosis
- Pulmonary capillary hemangiomatosis
- Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome
- Pulmonary fungal infections in patients deemed at risk
- Pulmonary hypertension due to lung disease and/or hypoxia
- Pulmonary hypertension owing to lung disease and/or hypoxia
- Pulmonary hypertension with unclear multifactorial mechanism
- Pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome
- Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome
- Pulmonary interstitial glycogenosis
- Pulmonary Langerhans cell histiocytosis
- Pulmonary lymphangiomatosis
- Pulmonary nodular lymphoid hyperplasia
- Pulmonary non-tuberculous mycobacterial infection
- Pulmonary pseudolymphoma
- Pulmonary valve agenesis
- Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome
- Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome
- Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis
- Pulmonary venoocclusive disease
- Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome
- Pulverulent cataract
- PUM1-associated developmental disability-ataxia-seizure syndrome
- PUM1-related cerebellar ataxia
- Punch-drunk syndrome
- Punctate acrokeratoderma freckle-like pigmentation
- Punctate inner choroidopathy
- Punctate keratosis palmoplantaris
- Punctate palmoplantar hyperkeratosis
- Punctate palmoplantar hyperkeratosis type 2
- Punctate palmoplantar hyperkeratosis type 3
- Punctate palmoplantar hyperkeratosis type 3 without elastoidosis
- Punctate palmoplantar keratoderma
- Punctate palmoplantar keratoderma type 1
- Punctate palmoplantar keratoderma type 2
- Punctate palmoplantar keratoderma type 3
- Punctate palmoplantar keratoderma type 3 without elastoidosis
- Punctate PPK
- PUPPP
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
- Pure aldosterone-producing adrenocortical carcinoma
- Pure aldosterone-secreting adrenocortical carcinoma
- Pure APAC
- Pure autonomic failure
- Pure CAS
- Pure cerebellar syndrome-mild pyramidal signs syndrome
- Pure childhood apraxia of speech
- Pure dysautonomia
- Pure dystonia
- Pure familial acute myeloid leukemia
- Pure familial AML
- Pure familial spastic paraplegia
- Pure hair and nail ectodermal dysplasia
- Pure hereditary spastic paraplegia
- Pure HSP
- Pure idiopatic dysautonomia
- Pure Joubert syndrome
- Pure mitochondrial myopathy
- Pure or complex autosomal dominant spastic paraplegia
- Pure or complex autosomal recessive spastic paraplegia
- Pure or complex familial spastic paraplegia
- Pure or complex hereditary spastic paraplegia
- Pure or complex X-linked spastic paraplegia
- Pure or complicated autosomal dominant spastic paraplegia
- Pure or complicated autosomal recessive spastic paraplegia
- Pure or complicated familial spastic paraplegia
- Pure or complicated hereditary spastic paraplegia
- Pure or complicated X-linked spastic paraplegia
- Pure partial 20p deletion
- Pure SPG
- Pure squamous carcinoma of the urothelial tract
- Puretic syndrome
- Purine nucleoside phosphorylase deficiency
- Purpura rheumatica
- Purtilo syndrome
- Pustular drug eruption
- Pustular pyoderma gangrenosum
- Pustulosis palmaris et plantaris
- Pustulosis subcornealis
- PUV
- PV
- PVA
- PVA/ADA, Fallot type
- PVLR
- PVNH
- PVR-LBCL
- PWS-like
- PXA
- PXE
- PXE-like late-onset focal dermal elastosis
- PXE-like papillary dermal elastolysis
- PXE-like syndrome
- PXE-like syndrome with retinitis pigmentosa
- Pycnodysostosis
- PYCR1 deficiency
- PYCR1-related De Barsy syndrome
- PYCR2-related microcephaly-progressive leukoencephalopathy
- Pyknoachondrogenesis
- Pyknodysostosis
- Pyknolepsy
- Pyle disease
- Pyoderma gangrenosum
- Pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome
- Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome
- Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
- Pyogenic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome
- Pyogenic autoinflammatory syndrome
- Pyogenic autoinflammatory syndrome of childhood
- Pyomyositis
- Pyramidal molars-abnormal upper lip syndrome
- Pyridoxal phosphate-dependent seizures
- Pyridoxal phosphate-responsive seizures
- Pyridoxamine 5'-phosphate oxidase deficiency
- Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy
- Pyridoxine-dependent-developmental and epileptic encephalopathy
- Pyroglutamicaciduria
- Pyrroline-5-carboxylate reductase 1 deficiency
- Pyruvate carboxylase deficiency
- Pyruvate carboxylase deficiency type A
- Pyruvate carboxylase deficiency type B
- Pyruvate carboxylase deficiency type C
- Pyruvate carboxylase deficiency, benign type
- Pyruvate carboxylase deficiency, infantile type
- Pyruvate carboxylase deficiency, severe neonatal type
- Pyruvate decarboxylase deficiency
- Pyruvate dehydrogenase complex component E2 deficiency
- Pyruvate dehydrogenase complex component E3 deficiency
- Pyruvate dehydrogenase complex deficiency
- Pyruvate dehydrogenase complex E1 component subunit alpha deficiency
- Pyruvate dehydrogenase complex E1 component subunit beta deficiency
- Pyruvate dehydrogenase deficiency
- Pyruvate dehydrogenase E1-alpha deficiency
- Pyruvate dehydrogenase E1-beta deficiency
- Pyruvate dehydrogenase E2 deficiency
- Pyruvate dehydrogenase E3 deficiency
- Pyruvate dehydrogenase E3-binding protein deficiency
- Pyruvate dehydrogenase phosphatase deficiency
- Pyruvate dehydrogenase protein X component deficiency
- Pyruvate kinase deficiency of erythrocytes
- Pyruvate metabolism disorder