P
P5CS deficiency
P5N deficiency
PACD
Pachydermoperiostosis
Pachygyria-intellectual disability-epilepsy syndrome
Pachyonychia congenita
Pacman dysplasia
PACNS
PADMAL
PAF
PAFAH1B1-related lissencephaly
Paget disease of the breast
Paget disease of the nipple
Pagetoid amyotrophic lateral sclerosis
Pagetoid neuroskeletal syndrome
Pagetoid reticulosis, Woringer-Kolopp type
Paget-Schrotter disease
Paget’s disease of the nipple
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
Painful bladder syndrome
Painful bruising syndrome
Painful congenital myotonia
Painful myotonia
Painful ophthalmoplegia
Painful orbital and systemic neurofibromas-marfanoid habitus syndrome
PAIS
Pai syndrome
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-Hall syndrome
Pallister-Killian syndrome
Pallister ulnar-mammary syndrome
Pallister-W syndrome
Palmar, plantar and disseminated porokeratosis
Palmer-Pagon syndrome
Palmoplantar and periorificial keratoderma
Palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome
Palmoplantar hyperkeratosis-deafness syndrome
Palmoplantar hyperkeratosis-esophageal carcinoma syndrome
Palmoplantar hyperkeratosis-hearing loss syndrome
Palmoplantar hyperkeratosis, Nagashima type
Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome
Palmoplantar hyperkeratosis-sclerodactyly syndrome
Palmoplantar hyperkeratosis-spastic paralysis syndrome
Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy
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-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, Nagashima type
Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome
Palmoplantar keratoderma-sclerodactyly syndrome
Palmoplantar keratoderma-spastic paralysis syndrome
Palmoplantar keratoderma with arrythmogenic cardiomyopathy
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
Palmoplantar pustulosis
PAM
PAMI syndrome
PAN
Panayiotopoulos syndrome
Pancreatic acinar cell carcinoma
Pancreatic adenoma
Pancreatic agenesis-holoprosencephaly syndrome
Pancreatic and cerebellar agenesis
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 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 carcinoma
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
Pancytopenia due to IKZF1 mutations
PANDAS
Panhypophysitis
Panhypopituitarism
Panner disease
Panniculitis-induced localized lipodystrophy
Pantothenate kinase-associated neurodegeneration
Panuveitis
PAPA syndrome
Papillary carcinoma of the cervix uteri
Papillary carcinoma of the corpus uteri
Papillary glioneuronal tumor
Papillary or follicular thyroid carcinoma
Papillary renal cell adenocarcinoma
Papillary renal cell carcinoma
Papillary tumor of the pineal region
Papilloma of choroid plexus
Papillon-Léage-Psaume syndrome
Papillon-Lefèvre syndrome
Papillo-renal syndrome
PAP, Reunion island type
Papular atrichia
Papular elastorrhexis
Papular epidermal nevi with skyline basal cell layers syndrome
Papular mucinosis
Papular mucinosis of infancy
Papular xanthoma
Papulosis atrophican maligna
Paracetamol poisoning
Parachute tricuspid valve
Paracoccidioidomycosis
Paraganglioma and gastric stromal sarcoma
Paraganglioma-somatostatinoma-polycythemia syndrome
Parahemophilia
Paralytic facial malformation
Paramedian facial cleft
Paramedian nasal cleft
Paramyotonia congenita
Paramyotonia congenita of Von Eulenburg
Parana hard skin syndrome
Paraneoplastic cerebellar degeneration
Paraneoplastic Cushing syndrome
Paraneoplastic limbic encephalitis
Paraneoplastic neurologic syndrome
Paraneoplastic opsoclonus-myoclonus
Paraneoplastic opsoclonus-myoclonus-ataxia syndrome
Paraneoplastic pemphigus
Paraneoplastic retinopathy
Paraneoplastic sensory ganglionopathy
Paraneoplastic sensory neuronopathy
Paraneoplastic uveitis
Paraparetic variant of GBS
Paraparetic variant of Guillain-Barré syndrome
Paraplegia-intellectual disability-hyperkeratosis syndrome
Paraquat poisoning
Parasitic myositis
Parastremmatic dwarfism
Paratesticular adenocarcinoma
Parathyroid carcinoma
Paratyphoid fever
PARC syndrome
Parietal encephalocele
Parietal foramina with clavicular hypoplasia
Parietal foramina with cleidocranial dysplasia
Paris-Trousseau thrombocytopenia
PARK14
PARK9
Parkes Weber syndrome
Parkinsonian-pyramidal syndrome
Parkinsonism-dementia-ALS complex
Parkinsonism with alveolar hypoventilation and mental depression
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
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
Partial atrioventricular canal defect
Partial autosomal deletion
Partial autosomal monosomy
Partial autosomal trisomy/tetrasomy
Partial bilateral aplasia of the Müllerian ducts
Partial chromosome Y deletion
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
Partial deletion of chromosome 10
Partial deletion of chromosome 10p
Partial deletion of chromosome 10q
Partial deletion of chromosome 11
Partial deletion of chromosome 11p
Partial deletion of chromosome 11q
Partial deletion of chromosome 12
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
Partial deletion of chromosome 16p
Partial deletion of chromosome 16q
Partial deletion of chromosome 17
Partial deletion of chromosome 17p
Partial deletion of chromosome 17q
Partial deletion of chromosome 18
Partial deletion of chromosome 18p
Partial deletion of chromosome 18q
Partial deletion of chromosome 19
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
Partial deletion of chromosome 20
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
Partial deletion of chromosome 3p
Partial deletion of chromosome 3q
Partial deletion of chromosome 4
Partial deletion of chromosome 4p
Partial deletion of chromosome 4q
Partial deletion of chromosome 5
Partial deletion of chromosome 5p
Partial deletion of chromosome 5q
Partial deletion of chromosome 6
Partial deletion of chromosome 6p
Partial deletion of chromosome 6q
Partial deletion of chromosome 7
Partial deletion of chromosome 7p
Partial deletion of chromosome 7q
Partial deletion of chromosome 8
Partial deletion of chromosome 8p
Partial deletion of chromosome 8q
Partial deletion of chromosome 9
Partial deletion of chromosome 9p
Partial deletion of chromosome 9q
Partial deletion of chromosome X
Partial deletion of chromosome Xp
Partial deletion of chromosome Xq
Partial deletion of the long arm of chromosome 1
Partial deletion of the long arm of chromosome 10
Partial deletion of the long arm of chromosome 11
Partial deletion of the long arm of chromosome 12
Partial deletion of the long arm of chromosome 13
Partial deletion of the long arm of chromosome 14
Partial deletion of the long arm of chromosome 15
Partial deletion of the long arm of chromosome 16
Partial deletion of the long arm of chromosome 17
Partial deletion of the long arm of chromosome 18
Partial deletion of the long arm of chromosome 19
Partial deletion of the long arm of chromosome 2
Partial deletion of the long arm of chromosome 20
Partial deletion of the long arm of chromosome 21
Partial deletion of the long arm of chromosome 22
Partial deletion of the long arm of chromosome 3
Partial deletion of the long arm of chromosome 4
Partial deletion of the long arm of chromosome 5
Partial deletion of the long arm of chromosome 6
Partial deletion of the long arm of chromosome 7
Partial deletion of the long arm of chromosome 8
Partial deletion of the long arm of chromosome 9
Partial deletion of the long arm of chromosome X
Partial deletion of the short arm of chromosome 1
Partial deletion of the short arm of chromosome 10
Partial deletion of the short arm of chromosome 11
Partial deletion of the short arm of chromosome 12
Partial deletion of the short arm of chromosome 16
Partial deletion of the short arm of chromosome 17
Partial deletion of the short arm of chromosome 18
Partial deletion of the short arm of chromosome 19
Partial deletion of the short arm of chromosome 2
Partial deletion of the short arm of chromosome 20
Partial deletion of the short arm of chromosome 3
Partial deletion of the short arm of chromosome 4
Partial deletion of the short arm of chromosome 5
Partial deletion of the short arm of chromosome 6
Partial deletion of the short arm of chromosome 7
Partial deletion of the short arm of chromosome 8
Partial deletion of the short arm of chromosome 9
Partial deletion of the short arm of chromosome X
Partial duplication of chromosome 1
Partial duplication of chromosome 10
Partial duplication of chromosome 10p
Partial duplication of chromosome 10q
Partial duplication of chromosome 11
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
Partial duplication of chromosome 16p
Partial duplication of chromosome 16q
Partial duplication of chromosome 17
Partial duplication of chromosome 17p
Partial duplication of chromosome 17q
Partial duplication of chromosome 18q
Partial duplication of chromosome 19
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
Partial duplication of chromosome 20
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
Partial duplication of chromosome 3p
Partial duplication of chromosome 3q
Partial duplication of chromosome 4
Partial duplication of chromosome 4p
Partial duplication of chromosome 4q
Partial duplication of chromosome 5q
Partial duplication of chromosome 6
Partial duplication of chromosome 6p
Partial duplication of chromosome 6q
Partial duplication of chromosome 7
Partial duplication of chromosome 7p
Partial duplication of chromosome 7q
Partial duplication of chromosome 8
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
Partial duplication of chromosome Xp
Partial duplication of chromosome Xq
Partial duplication of the long arm of chromosome 1
Partial duplication of the long arm of chromosome 10
Partial duplication of the long arm of chromosome 11
Partial duplication of the long arm of chromosome 13
Partial duplication of the long arm of chromosome 14
Partial duplication of the long arm of chromosome 15
Partial duplication of the long arm of chromosome 16
Partial duplication of the long arm of chromosome 17
Partial duplication of the long arm of chromosome 18
Partial duplication of the long arm of chromosome 19
Partial duplication of the long arm of chromosome 2
Partial duplication of the long arm of chromosome 20
Partial duplication of the long arm of chromosome 22
Partial duplication of the long arm of chromosome 3
Partial duplication of the long arm of chromosome 4
Partial duplication of the long arm of chromosome 5
Partial duplication of the long arm of chromosome 6
Partial duplication of the long arm of chromosome 7
Partial duplication of the long arm of chromosome 8
Partial duplication of the long arm of chromosome 9
Partial duplication of the long arm of chromosome X
Partial duplication of the short arm of chromosome 1
Partial duplication of the short arm of chromosome 10
Partial duplication of the short arm of chromosome 11
Partial duplication of the short arm of chromosome 16
Partial duplication of the short arm of chromosome 17
Partial duplication of the short arm of chromosome 19
Partial duplication of the short arm of chromosome 2
Partial duplication of the short arm of chromosome 20
Partial duplication of the short arm of chromosome 3
Partial duplication of the short arm of chromosome 4
Partial duplication of the short arm of chromosome 6
Partial duplication of the short arm of chromosome 7
Partial duplication of the short arm of chromosome 8
Partial duplication of the short arm of chromosome 9
Partial duplication of the short arm of chromosome X
Partial duplication/triplication of chromosome 12p
Partial duplication/triplication of chromosome 18
Partial duplication/triplication of chromosome 18p
Partial duplication/triplication of chromosome 5
Partial duplication/triplication of chromosome 5p
Partial duplication/triplication of chromosome 9
Partial duplication/triplication of the short arm of chromosome 12
Partial duplication/triplication of the short arm of chromosome 18
Partial duplication/triplication of the short arm of chromosome 5
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
Partially involuting congenital hemangioma
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 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 chromosome Xp
Partial trisomy of chromosome Xq
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
Partington disease
Partington-Mulley syndrome
Partington syndrome
Parvovirus antenatal infection
Pascual-Castroviejo syndrome type 1
Pascual-Castroviejo syndrome type 2
Pashayan-Pruzansky syndrome
Pashayan syndrome
PASH syndrome
Passwell-Goodman-Siprkowski syndrome
Patau syndrome
Patella aplasia/hypoplasia
Patellar dysostosis
Patent arterial duct-bicuspid aortic valve-hand anomalies syndrome
Patent ductus arteriosus anomalies
Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
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
Paternal uniparental disomy of chromosome 1
Paternal uniparental disomy of chromosome 13
Paternal uniparental disomy of chromosome 20
Paternal uniparental disomy of chromosome 21
Paternal uniparental disomy of chromosome 5
Paternal uniparental disomy of chromosome 6
Paternal uniparental disomy of chromosome 7
Paternal uniparental disomy of chromosome X
Paternal UPD(20)
Pattern dystrophy
Patterned dystrophy of the retinal pigment epithelium
Patterson pseudoleprechaunism syndrome
Patterson-Stevenson-Fontaine syndrome
Patterson-Stevenson syndrome
Patterson syndrome
PATX
Pauciarticular chronic arthritis
Pauciarticular chronic arthritis with anti-nuclear antibodies
Pauciarticular chronic arthritis without anti-nuclear antibodies
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
PAVC
PAVM
PBC
PBC/PSC and AIH overlap syndrome
PBCRA
PBL
PC
PCA
PCARP
PCB variant of GBS
PCB variant of Guillain-Barré syndrome
PCCA
PCD
PCD
PCDLBCL,LT
PCFCL
PCH
PCH
PCH1
PCH10
PCH2
PCH3
PCH4
PCH5
PCH6
PCH7
PCH8
PCH9
PCH with optic atrophy
PCH without dyskinesia
PCI deficiency
PCL
PCLD
PCMZL
PCNA-related progressive neurodegenerative photosensitivity syndrome
PCNSL
PCNSV
PCT
PCWH
PDALS
PDCD
PDDRI
PDE4D haploinsufficiency syndrome
PDH
PDHAD
PDHBD
PDHC
PDH phosphatase deficiency
PDP
PDR
Pearson syndrome
Pectus excavatum-macrocephaly-dysplastic nails syndrome
PED
Pediatric AIS
Pediatric arterial ischemic stroke
Pediatric autoimmune disorders associated with Streptococcus infections
Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections
Pediatric Castleman disease
Pediatric collagenous gastritis
Pediatric HCC
Pediatric hepatocellular carcinoma
Pediatric multiple sclerosis
Pediatric-onset Basedow disease
Pediatric-onset glaucoma
Pediatric-onset Graves disease
Pediatric systemic lupus erythematosus
pEDS
Peeling skin disease
Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome
Peeling skin syndrome
Peeling skin syndrome type A
Peeling skin syndrome type B
Peeling skin syndrome type C
PEHO-like syndrome
PEHO syndrome
PEL
Pelizaeus-Merzbacher brain sclerosis
Pelizaeus-Merzbacher disease
Pelizaeus-Merzbacher disease, classic form
Pelizaeus-Merzbacher disease, connatal form
Pelizaeus-Merzbacher disease in female carriers
Pelizaeus-Merzbacher disease, null syndrome
Pelizaeus-Merzbacher disease, transitional form
Pelizaeus-Merzbacher disease type II
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
Pelviscapular dysplasia
Pelvis-shoulder dysplasia
PELVIS syndrome
Pemphigoid gestationis
Pemphigus erythematosus
Pemphigus foliaceus
Pemphigus vegetans
Pemphigus vulgaris
Pena-Shokeir syndrome type 1
Pena-Shokeir syndrome type 2
Pendred syndrome
Penile adenocarcinoma
Penile agenesis
Penile cancer
Penile squamous cell carcinoma
Penis agenesis
Penoscrotal transposition
PENS syndrome
Pentalogy of Cantrell
Pentasomy X
Penta-X
Pentosuria
PEO-myopathy-emaciation syndrome
PEPCK deficiency
PEP syndrome
Periarteritis nodosa
Pericardial and diaphragmatic defect
Pericarditis-arthropathy-camptodactyly syndrome
Perinatal asphyxia
Perinatal hypoxia
Perinatal lethal bent bone dysplasia
Perinatal lethal Gaucher disease
Perinatal lethal hypophosphatasia
Perinatal lethal phosphoethanolaminuria
Perinatal lethal Rathburn disease
Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome
Perineal, scrotal or penoscrotal hypospadias
Perineural cyst
Perineurioma
Periodic disease
Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Periodic fever syndrome
Periodic fever syndrome of childhood
Periodic paralysis
Periodic paralysis with later-onset distal motor neuropathy
Periodic paralysis with transient compartment-like syndrome
Periodic vestibulocerebellar ataxia
Periodontal Ehlers-Danlos syndrome
Perioral myoclonia with absences
Peripapillary staphyloma
Peripartum cardiomyopathy
Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
Peripheral dysostosis
Peripheral fibroblastoma
Peripheral hypothyroidism
Peripheral motor neuropathy-dysautonomia syndrome
Peripheral nerve hyperexcitability
Peripheral neuroectodermal cancer of cervix uteri
Peripheral neuroectodermal cancer of the corpus uteri
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 cystic mesothelioma
Periventricular leukomalacia
Periventricular nodular heterotopia
Perlecan-related bone disorder
Perlman syndrome
PERM
Permanent congenital hypothyroidism
Permanent neonatal diabetes mellitus
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
Peroxisome biogenesis disorder
Peroxisome biogenesis disorder spectrum
Perrault syndrome
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
Peters anomaly
Peters anomaly with short limb dwarfism
Peters congenital glaucoma
Peters plus syndrome
Petit-Fryns syndrome
Petty-Laxova-Wiedemann syndrome
Petty syndrome
Peutz-Jeghers syndrome
PFAPA syndrome
PFBC
PFCP
PFE
Pfeiffer-Kapferer syndrome
Pfeiffer-Mayer syndrome
Pfeiffer-Palm-Teller syndrome
Pfeiffer-Singer-Zschiesche syndrome
Pfeiffer syndrome
Pfeiffer syndrome type 1
Pfeiffer syndrome type 2
Pfeiffer syndrome type 3
Pfeiffer-Weber-Christian syndrome
PFFD
PFIC
PFIC1
PFIC2
PFIC3
PFIC4
PFIC5
PFVS
PGBM1
PGM1-CDG
PGM1-related congenital disorder of glycosylation
PGM3-CDG
PGM3-related congenital disorder of glycosylation
PGNT
PHA
PHA2
PHA2A
PHA2B
PHA2C
PHA2D
PHA2E
PHACE 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
PHA type 1
PHAVER syndrome
PHD syndrome
PH due to lung disease and/or hypoxia
Phelan-McDermid syndrome
Phemphigoid pyoderma gangrenosum
Phenobarbital embryopathy
Phenotypic diarrhea
Phenylalanine hydroxylase deficiency
Phenylketonuria
Phenylketonuria type 2
Phenylketonuric embryopathy
Phenytoin embryofetopathy
Phenytoin or carbamazepine toxicity
PHGDH deficiency
PHGDH deficiency, infantile/juvenile form
PHHI
Phlebectatic osteohypoplastic angiodysplasia
PHNED
PHO
Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
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
Phosphoribosylpyrophosphate synthetase superactivity
Phosphoserine aminotransferase deficiency
Photogénodermatose
Photogenodermatosis
Photosensitive epilepsy
PH owing to lung disease and/or hypoxia
PHPV
PHSH
PHTS
PH with unclear multifactorial mechanism
Phyllodes tumor of the breast
Phyllodes tumor of the prostate
Phyllodes type of atypical prostatic hyperplasia
Phytanic-CoA hydroxylase deficiency
Phytosterolemia
Piccardi-Lassueur-Little syndrome
Piebaldism
Piebald trait-neurologic defects syndrome
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-fetal chondrodysplasia 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-fetal chondrodysplasia syndrome
Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome
Pierson syndrome
PIFP
PIG
Pigeon-breeder lung disease
PIGG-CDG
PIGL-CDG
PIGM-CDG
Pigment anomaly-ectrodactyly-hypodontia syndrome
Pigmentary disorder with hearing loss
Pigmentary hairy epidermal nevus
Pigmentary mosaicism, Ito type
Pigmentary orthochromatic leukodystrophy
Pigmentation anomaly of the skin
Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
Pigmented paravenous retinochoroidal atrophy
Pigmented villonodular synovitis
PIGN-CDG
PIGT-CDG
PIHL
PIK3CA-related overgrowth syndrome
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
Pilodental dysplasia-refractive errors syndrome
Pilomatricoma
Pilomatrix carcinoma
Pilomatrix dysplasia
Pilomatrixoma
Pilomyxoid astrocytoma
Pineal parenchymal tumor of intermediate differenciation
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-like syndrome
Pitt-Hopkins syndrome
Pitt-Williams brachydactyly
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’s cleft cysts
Pituitary-dependent Cushing syndrome
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 resistance to thyroid hormone
Pituitary stalk interruption syndrome
Pituitary thyrotrophic adenoma
Pituitary tumor
Pituitary tumor apoplexy
Pityriasis rubra pilaris
Piussan-Lenaerts-Mathieu syndrome
PJS
PKAN
PKAN, atypical form
PKAN, classic form
PKDYS
PKU
PKU type 2
PLA2G4A-related platelet dysfunction
PLA2G6-associated neurodegeneration
PLA2G6-related dystonia-parkinsonism
PLAA-associated neurodevelopmental disorder
PLAAND
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
Plasmablastic lymphoma
Plasma cell leukemia
Plasma cell myeloma
Plasma cell tumor
Plasmacytoma
Plasma thromboplastin antecedent deficiency
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-Luton type
Platyspondylic dysplasia, Torrance type
Platyspondylic lethal skeletal dysplasia, Torrance type
Platyspondyly-amelogenesis imperfecta syndrome
PLCA
PLCG2-associated antibody deficiency and immune dysregulation
PLCNA
Pleomorphic liposarcoma
Pleomorphic rhabdomyosarcoma
Pleomorphic salivary gland adenoma
Pleomorphic xanthoastrocytoma
Pleural empyema
Pleural mesothelioma
Pleuro-pericardial cyst
Pleuropulmonary blastoma
Pleuropulmonary blastoma familial tumor susceptibility syndrome
Pleuro-pulmonary blastoma familial tumor susceptibility 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
PLOSL
PLO-SL
Plott syndrome
PLP1 null syndrome
PLS
PLS
PLS
PLSD-T
Plumbism
Plummer-Vinson syndrome
PM
PM
PMA
PMD
PMDS
PME
PMED
PME type 1
PME type 2
PME type 3
PME type 5
PME type 6
PME type 7
PME type 8
PME type 9
PML
PMLD
PMLD1
PMM2-CDG
PMP
PMP22-RAI1 contiguous gene duplication syndrome
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
PMSE syndrome
PNDM
PNEN
PNET
Pneumoblastoma
Pneumococcal meningitis
Pneumoconiosis
Pneumocystosis
Pneumonia caused by Pseudomonas aeruginosa infection
PNH
PNPase deficiency
PNP deficiency
PNPO deficiency
PNPO-related neonatal epileptic encephalopathy
PNS
POADS
POEMS syndrome
POH
Poikiloderma-alopecia-retrognathism-cleft palate syndrome
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
POIKTMP syndrome
POIS
Pokkuri death syndrome
Poland anomaly
Poland sequence
Poland syndrome
POLD
Pol III-related leukodystrophy
Poliomyelitis
Polyarteritis nodosa
Polyarthritis enterica
Polyarthritis without rheumatoid factor
Polyarthritis without rheumatoid factor with anti-nuclear antibodies
Polyarthritis without rheumatoid factor without anti-nuclear antibodies
Polyarthritis with rheumatoid factor
Polyarticular JIA
Polyarticular juvenile idiopathic arthritis
Polychondropathia
Polyclonal hyperviscosity syndrome
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Polycythemia
Polycythemia rubra vera
Polycythemia vera
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Polydactyly-myopia syndrome
Polydactyly of a biphalangeal thumb
Polydactyly of an index finger
Polydactyly of a triphalangeal thumb
Polydactyly postaxial with median cleft of upper lip
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 vitelline macular degeneration
Polymyalgia rheumatica
Polymyositis
Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG
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
Polypoid prolapsing folds
Polyps and spots syndrome
Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies
Polyrhinia
Polyrrhinia
Polysomy of X chromosome
Polysyndactyly
Polysyndactyly-cardiac malformation syndrome
Polysyndactyly, Haas type
Polyvalvular heart disease syndrome
Poly-X
POMA
POMA syndrome
POMC deficiency
POMGNT2-related limb-girdle muscular dystrophy R24
POMGNT2-related muscular dystrophy
Pompe disease
Pompe disease, infantile onset
Pompe disease, late-onset
Pontiac fever
Pontine autosomal dominant microangiopathy with leukoencephalopathy
Pontine tegmental cap dysplasia
Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome
Pontocerebellar hypoplasia due to CHMP1A mutation
Pontocerebellar hypoplasia type 1
Pontocerebellar hypoplasia type 10
Pontocerebellar hypoplasia type 2
Pontocerebellar hypoplasia type 3
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 5
Pontocerebellar hypoplasia type 6
Pontocerebellar hypoplasia type 7
Pontocerebellar hypoplasia type 8
Pontocerebellar hypoplasia type 9
Pontoneocerebellar atrophy
Pontoneocerebllar hypoplasia
Poorly-differentiated NEN of pancreas
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 neuroendocrine neoplasm of pancreas
Poorly-differentiated pancreatic NEN
Poorly-differentiated pancreatic neuroendocrine neoplasm
Poorly differentiated thymic neuroendocrine carcinoma
POPH
Popliteal pterygium syndrome
Popliteal web syndrome
Porak and Durante disease
PORD
POR deficiency
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
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 ALAD deficiency
Porphyria due to ALA dehydratase deficiency
Porphyria due to delta-aminolevulinate dehydratase deficiency
Porphyria of Doss
Porphyria variegata
Portopulmonary hypertension
Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
Postanginal sepsis secondary to orophyngeal infection
Postaxial acrodysostosis
Postaxial acrofacial dysostosis
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Postaxial polydactyly-dental and vertebral anomalies syndrome
Postaxial polydactyly-intellectual disability syndrome
Postaxial polydactyly type A
Postaxial polydactyly type B
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 fossa malformation
Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
Posterior hypospadias
Posterior meningocele
Posterior polymorphous corneal dystrophy
Posterior polymorphous dystrophy
Posterior urethral valve
Posterior uveitis
Postinfectious autoimmune disease with chorea
Postinfectious encephalitis
Postinfectious vasculitis
Postlingual non-syndromic genetic deafness
Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
Postorgasmic illness syndrome
Postpartum cardiomyopathy
Postpartum psychosis
Postpoliomyelitic syndrome
Postpoliomyelitis sequelae
Postpoliomyelitis syndrome
Postpolio sequelae
Postpolio syndrome
Postsynaptic congenital myasthenic syndromes
Posttransplant acute limbic encephalitis
Post-transplant lymphoproliferative disease
Post-traumatic pituitary deficiency
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-related familial partial lipodystrophy
PPARG-related FPLD
PPB familial tumor susceptibility syndrome
PPBFTDS
PPBL
PPC
PPCD
PPD1
PPD2
PPD3
PPD4
PPFG
PPIRee
PPI-REE
PPI-responsive esophageal eosinophilia
PPK-CA, Stevanovic type
PPK-CA, Wallis type
PPK-deafness syndrome
PPK, Gamborg-Nielsen type
PPK mutilans and deafness
PPK, Nagashima type
PPK nummularis
PPKP1
PPKP2
PPKP3
PPKP3 without elastoidosis
PPM-X
PPNAD
PPNET
PPoma
PPP
PPPK3 without elastoidosis
PPPP
PPRCA
PPSPC
PRAAS
Prader-Labhart-Willi syndrome
Prader-Willi habitus-osteopenia-camptodactyly syndrome
Prader-Willi-like syndrome
Prader-Willi-like syndrome due to a point mutation
Prader-Willi-like syndrome due to microdeletion 6q16
Prader-Willi syndrome
Prader-Willi syndrome due to a point mutation
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
Prata-Liberal-Goncalves syndrome
Preaxial acrodysostosis
Preaxial deficiency-postaxial polydactyly-hypospadias syndrome
Preaxial polydactyly-colobomata-intellectual disability syndrome
Preaxial polydactyly type 1
Preaxial polydactyly type 2
Preaxial polydactyly type 3
Preaxial polydactyly type 4
Precalicial canalicular ectasia
Precocious puberty in female
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 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
Pre-Descemet corneal dystrophy
Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication
Predisposition to invasive fungal disease due to CARD9 deficiency
Predominantly large-vessel vasculitis
Predominantly medium-vessel vasculitis
Predominantly small-vessel vasculitis
Preeclampsia
Pregnancy-related cholestasis
Prelingual non-syndromic genetic deafness
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
Prenatal benign hypophosphatasia
Prenatal benign phosphoethanolaminuria
Prenatal benign Rathburn disease
Prenatal-onset spinal muscular atrophy with congenital bone fractures
Prepubertal anorexia nervosa
Pressure-induced localized lipoatrophy
Presynaptic congenital myasthenic syndromes
Pretibial DEB
Pretibial dystrophic epidermolysis bullosa
Prieto-Badia-Mulas syndrome
Prieur-Griscelli syndrome
Primary acalvaria
Primary achalasia
Primary acquired sideroblastic anemia
Primary Addison’s disease
Primary adrenal insufficiency
Primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency
Primary adult heart tumor
Primary alpha-dystroglycanopathy
Primary amyloidosis
Primary anetoderma
Primary angiitis of the central nervous system
Primary antibody deficiency
Primary autoimmune enteropathy
Primary avascular necrosis
Primary AVN
Primary basilar invagination
Primary bilateral macronodular adrenal hyperplasia
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 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 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 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 unspecified peripheral T-cell lymphoma
Primary cutis verticis gyrata
Primary desmosis coli
Primary dystonia, DYT13 type
Primary dystonia, DYT17 type
Primary dystonia, DYT21 type
Primary dystonia, DYT27 type
Primary dystonia, DYT2 type
Primary dystonia, DYT4 type
Primary dystonia, DYT6 type
Primary dystonia with mixed phenotype
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 renotubular syndrome
Primary Fanconi syndrome
Primary germ cell tumor of central nervous system
Primary germ cell tumor of CNS
Primary GH insensitivity
Primary GH resistance
Primary glomerular disease
Primary growth hormone insensitivity
Primary growth hormone resistance
Primary hemophagocytic lymphohistiocytosis
Primary hepatic neuroendocrine carcinoma
Primary hepatolithiasis
Primary HES
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 hypersomnia
Primary hypertrophic osteoarthropathy
Primary hypogammaglobulinemia
Primary hypomagnesemia with refractory seizures and intellectual deficiency
Primary hypomagnesemia with secondary hypocalcemia
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 syndrome due to LAMTOR2 deficiency
Primary immunodeficiency syndrome due to p14 deficiency
Primary immunodeficiency syndrome with short stature
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 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’s 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 associated anomalies
Primary lymphoid conjunctival tumor
Primary lymphoma of the conjunctiva
Primary macular atrophy
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 myelofibrosis
Primary myoclonus
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 PAN
Primary parathyroid hyperplasia
Primary pediatric heart tumor
Primary periarteritis nodosa
Primary peritoneal carcinoma
Primary peritoneal serous carcinoma
Primary peritoneal serous/papillary carcinoma
Primary peritoneal tumor
Primary pigmented nodular adrenal dysplasia
Primary pigmented nodular adrenocortical disease
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 qualitative or quantitative defects of alpha-dystroglycan
Primary renal tubular acidosis
Primary renal tubular hypokalemic hypomagnesemia with hypocalciuria
Primary retention of teeth
Primary sclerosing cholangitis
Primary short bowel syndrome
Primary Sjögren-Gougerot syndrome
Primary Sjögren 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 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 unilateral adrenal hyperplasia
Primary vasculitis of the central nervous system
Primitive neuroectodermal tumor of the cervix uteri
Primitive neuroectodermal tumor of the corpus uteri
Primitive portal vein thrombosis
Primitive renal tubule syndrome
Primordial microcephalic dwarfism, Crachami type
Primrose syndrome
Prion protein systemic amyloidosis
PRKAR1B-related neurodegenerative dementia with intermediate filaments
PRLoma
PRL-secreting pituitary adenoma
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 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-optic atrophy syndrome
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy
Progressive encephalopathy with leukodystrophy due to DECR deficiency
Progressive encephalopathy with severe infantile anorexia
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 hemifacial atrophy
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 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-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
Prolactinoma
Prolactin-secreting pituitary adenoma
Prolidase deficiency
Proliferating trichilemmal cyst
Proliferation of large granular lymphocytes
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-associated autoinflammatory syndrome
Proteasome disability syndrome
Protein defect of cystin transport
Protein S acquired deficiency
Proteus-like syndrome
Proteus syndrome
Prothrombin deficiency
Proton-pump inhibitor-responsive esophageal eosinophilia
Protoplasmic astrocytoma
Protoporphyrinogen oxidase deficiency
Proud-Levine-Carpenter syndrome
Proud 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
PRPP synthetase superactivity
PRPS1 superactivity
PrP systemic amyloidosis
pRTA
PRTH
PRUNE1-related neurological syndrome
Prune belly syndrome
Pruriginous dystrophic epidermolysis bullosa
Pruritic urticarial papules and plaques of pregnancy
PSAT deficiency
PSC
Pseudoachondroplasia
Pseudoachondroplastic dysplasia
Pseudoachondroplastic spondyloepiphyseal dysplasia
Pseudoadrenoleukodystrophy
Pseudoaldosteronism
Pseudoaminopterin syndrome
Pseudo-Angelman syndrome
Pseudo-Best disease
Pseudocholinesterase deficiency
Pseudo-Demons-Meigs syndrome
Pseudodiastrophic dysplasia
Pseudo-Hurler polydystrophy
Pseudohyperaldosteronism type 1
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
Pseudo-Meigs syndrome
Pseudo-membranous bronchitis
Pseudo-Morquio syndrome type 2
Pseudomyxoma peritonei
Pseudo-NALD
Pseudo-neonatal adrenoleukodystrophy
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
Pseudo-TORCH syndrome
Pseudo-trisomy 13 syndrome
Pseudotumor cerebri
Pseudotyphus of California
Pseudounicornuate uterus
Pseudovaginal perineoscrotal hypospadias
Pseudovitamin D-deficient rickets
Pseudo-vitelliform macular dystrophy
Pseudo-von Willebrand disease
Pseudo-von Willebrand disease type 2B
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
Psoriasis-related JIA
Psoriasis-related juvenile idiopathic arthritis
PSP-AOS
PSP-CBS
PSP-corticobasal syndrome
PSP-p
PSP-PAGF
PSP-parkinsonism
PSP-PNFA
PSP-pure akinesia with gait freezing
PSP syndrome
PSS
PSST
PSS type A
PSS type B
PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome
Psychogenic dystonia
Psychogenic movement disorders
Psychogenic purpura
Psychomotor delay due to S-adenosylhomocysteine hydrolase deficiency
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
PTA deficiency
PTCD
PTC-RCC
PTC syndrome
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
PT-VWD
PUAH
Pudendal algia
Pudendalgia
Pudendal nerve entrapment syndrome
Pudendal neuralgia
Pudendal neuralgia by pudendal nerve entrapment
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-intact ventricular septum syndrome
Pulmonary atresia with ventricular septal defect
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 interstitial glycogenosis
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 venoocclusive disease
Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis
Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome
Pulverulent cataract
Punch-drunk syndrome
Punctate acrokeratoderma freckle-like pigmentation
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 cerebellar syndrome-mild pyramidal signs syndrome
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
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
PVNH
PWS due to a point mutation
PWS-like
PWS-like due to a point mutation
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-suppurative hidradenitis syndrome
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
Pyogenic autoinflammatory syndrome
Pyogenic autoinflammatory syndrome of childhood
Pyogenic bacterial infections due to MyD88 deficiency
Pyomyositis
Pyramidal molars-abnormal upper lip syndrome
Pyrgocephaly
Pyridoxal phosphate-dependent seizures
Pyridoxal phosphate-responsive seizures
Pyridoxamine 5′-oxidase deficiency
Pyridoxamine 5′-phosphate oxidase deficiency
Pyridoxine-dependent epilepsy
Pyroglutamicaciduria
Pyrroline-5-carboxylate reductase 1 deficiency
Pyruvate carboxylase deficiency
Pyruvate carboxylase deficiency, benign type
Pyruvate carboxylase deficiency, infantile type
Pyruvate carboxylase deficiency, severe neonatal type
Pyruvate carboxylase deficiency type A
Pyruvate carboxylase deficiency type B
Pyruvate carboxylase deficiency type C
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-binding protein deficiency
Pyruvate dehydrogenase E3 deficiency
Pyruvate dehydrogenase phosphatase deficiency
Pyruvate dehydrogenase protein X component deficiency
Pyruvate kinase deficiency of erythrocytes
Pyruvate metabolism disorder