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Disease	Synonyms	Description	Articles
pyridoxamine 5'-phosphate oxidase deficiency	pyridoxal phosphate-dependent seizures; pyridoxami.. [+] pyridoxal phosphate-dependent seizures; pyridoxamine 5'-oxidase deficiency; pyridoxamine 5-prime-phosphate oxidase deficiency; pyridoxal phosphate-responsive seizures; pyridoxal 5'-phosphate-dependent epilepsy; PNPO-related neonatal epileptic encephalopathy; PNPO deficiency [-]	A vitamin metabolic disorder characterized by vita..[+] A vitamin metabolic disorder characterized by vitamin B6 deficienc resulting in neonatal-onset of severe seizures that can be controlled with pyridoxal 5'-phosphate treatment that has_material_basis_in homozygous or compound heterozygous mutation in PNPO on 17q21.32. [-]
Pitt-Hopkins-like syndrome 2	PTHSL2	A syndromic intellectual disability characterized ..[+] A syndromic intellectual disability characterized by developmental delay and intellectual disability with many patients also displaying infantile hypotonia and autistic features that has_material_basis_in compound heterozygous or homozygous mutation in the NRXN1 gene on chromosome 2p16.3. [-]
primary failure of tooth eruption	PFE; primary retention of teeth; dental noneruptio.. [+] primary retention of teeth; PFE; dental noneruption; familial posterior openbite malocclusion; nonsyndromic primary failure of eruption; unerupted second primary molar [-]	A tooth disease characterized by incomplete tooth ..[+] A tooth disease characterized by incomplete tooth eruption despite the presence of a clear eruption pathway that has_material_basis_in heterozygous mutation in the PTHR1 gene on chromosome 3p21.31. [-]
progressive myoclonus epilepsy 4	action myoclonus-renal failure syndrome; AMRF; EPM.. [+] action myoclonus-renal failure syndrome; AMRF; EPM4; Myoclonus-nephropathy syndrome [-]	A progressive myoclonus epilepsy characterized by ..[+] A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that has_material_basis_in homozygous or compound heterozygous of mutation in the SCARB2 gene on chromosome 4q21.1. [-]
progressive myoclonus epilepsy 10	early-onset Lafora body disease; EPM10	A progressive myoclonus epilepsy characterized by ..[+] A progressive myoclonus epilepsy characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life that has_material_basis_in homozygous or compoud heterozygous mutation in the PRDM8 gene on chromosome 4q21.21. [-]
progressive myoclonus epilepsy 3	Progressive myoclonus epilepsy type 3; Progressive.. [+] Progressive myoclonus epilepsy type 3; Progressive myoclonic epilepsy due to KCTD7 deficiency; PME type 3; CLN14 disease; neuronal ceroid lipofuscinosis 14; EPM3 [-]	A progressive myoclonus epilepsy characterized by ..[+] A progressive myoclonus epilepsy characterized by onset of intractable myoclonic seizures before age 2 years and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the KCTD7 gene on chromosome 7q11.21. [-]
progressive myoclonus epilepsy 7	Progressive myoclonus epilepsy type 7; Progressive.. [+] Progressive myoclonus epilepsy type 7; Progressive myoclonic epilepsy due to KV3.1 deficiency; PME type 7; EPM7; MEAK; Myoclonus epilepsy and ataxia due to potassium channel mutation [-]	A progressive myoclonus epilepsy characterized by ..[+] A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in the KCNC1 gene on chromosome 11p15.1. [-]	1 articles
progressive myoclonus epilepsy 1B	EPM1B	An Unverricht-Lundborg syndrome that has_material_..[+] An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PRICKLE1 gene on chromosome 12q12. [-]
progressive myoclonus epilepsy 6	PME type 6; Progressive myoclonus epilepsy type 6; .. [+] Progressive myoclonus epilepsy type 6; PME type 6; EPM6; GOSR2-related progressive myoclonus ataxia; North Sea progressive myoclonus epilepsy [-]	A progressive myoclonus epilepsy characterized by ..[+] A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has_material_basis_in homozygous or compound heterozygous mutation in the GOSR2 gene on chromosome 17q21.32. [-]
progressive myoclonus epilepsy 9	progressive myoclonus epilepsy type 9; progressive.. [+] progressive myoclonus epilepsy type 9; progressive myoclonic epilepsy due to LMNB2 deficiency; PME type 9; EMP9 [-]	A progressive myoclonus epilepsy characterized by ..[+] A progressive myoclonus epilepsy characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the LMNB2 gene on chromosome 19p13.3. [-]
progressive myoclonus epilepsy 8	progressive myoclonus epilepsy type 8; progressive.. [+] progressive myoclonus epilepsy type 8; progressive myoclonic epilepsy due to CERS1 deficiency; PME type 8; EMP8 [-]	A progressive myoclonus epilepsy characterized by ..[+] A progressive myoclonus epilepsy characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in CERS1 on chromosome 19p13.11. [-]
progressive myoclonus epilepsy 1A	EPM1A	An Unverricht-Lundborg syndrome that has_material_..[+] An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in the CSTB gene on chromosome 21q22.3. [-]
palmoplantar keratoderma-deafness syndrome	palmoplantar hyperkeratosis-deafness syndrome; pal.. [+] palmoplantar hyperkeratosis-deafness syndrome; palmoplantar hyperkeratosis-hearing loss syndrome; palmoplantar keratoderma-hearing loss syndrome; PPK-deafness syndrome; palmoplantar keratoderma with deafness; keratoderma palmoplantar deafness [-]	A syndrome characterized by sensorineural hearing ..[+] A syndrome characterized by sensorineural hearing loss and progressive hyperkeratosis of the palms and soles that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11. [-]
palmoplantar keratoderma-esophageal carcinoma syndrome	palmoplantar keratoderma with esophageal cancer; p.. [+] palmoplantar keratoderma with esophageal cancer; palmoplantar hyperkeratosis-esophageal carcinoma syndrome; Bennion-Patterson syndrome; Howell-Evans syndrome; keratosis palmaris et plantaris with esophageal cancer; keratosis palmoplantaris-esophageal carcinoma syndrome; TOC; tylosis with esophageal cancer; tylosis-oesophageal carcinoma syndrome [-]	A syndrome characterized by palmoplantar keratoder..[+] A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in the RHBDF2 gene on chromosome 17q25.1. [-]
progressive osseous heteroplasia	POH; ectopic ossification familial type; familial .. [+] POH; ectopic ossification familial type; familial ectopic ossification; osteoma cutis [-]	A syndrome characterized by infantile onset of der..[+] A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of the GNAS gene on chromosome 20q13.32. [-]
paroxysmal extreme pain disorder	PEPD; PEXPD; familial rectal pain; submandibular, .. [+] PEXPD; PEPD; familial rectal pain; submandibular, ocular and rectal pain with flushing [-]	An autonomic nervous system disease characterized ..[+] An autonomic nervous system disease characterized by onset in the neonatal period or infancy of paroxysms of rectal, ocular, or submandibular pain with flushing that has_material_basis_in heterozygous mutation in the SCN9A gene on chromosome 2q24.3. [-]	1 articles
paramyotonia congenita of Von Eulenburg	paramyotonia congenita; PMC; paralysis periodica p.. [+] PMC; paramyotonia congenita; paralysis periodica paramyotonica; Von Eulenburg paramyotonia congenita; Eulenburg disease; myotonia congenita intermittens [-]	A neuromuscular disease characterized by onset in ..[+] A neuromuscular disease characterized by onset in infancy or early childhood of bouts of myotonia and muscle weakness that are increased by cold exposure that has_material_basis_in heterozygous mutation in the SCN4A gene on chromosome 17q23.3. [-]
parastremmatic dwarfism	parastremmatic dysplasia	An osteochondrodysplasia characterized by severe d..[+] An osteochondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and bowing and twisting of lower limbs that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. [-]
prolidase deficiency	peptidase deficiency; hyperimidodipeptiduria; imid.. [+] peptidase deficiency; hyperimidodipeptiduria; imidodipeptidase deficiency [-]	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by massive imidodipeptiduria, chronic and slowly healing ulcerations, recurrent infections, dysmorphic facial features, variable cognitive impairment, splenomegaly, and lack of or reduced prolidase activity that has_material_basis_in homozygous or compound heterozygous mutation in the PEPD gene on chromosome 19q13.11. [-]
pigmented paravenous chorioretinal atrophy	PPRCA	An eye disease characterized by the presence of bo..[+] An eye disease characterized by the presence of bone corpuscle pigmentation in a paravenous distribution in the ocular fundus that has_material_basis_in heterozygous mutation in the CRB1 gene on chromosome 1q31.3. [-]
plasminogen deficiency type I	hypoplasminogenemia	A syndrome characterized by decreased serum plasmi..[+] A syndrome characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and chronic mucosal pseudomembranous lesions typically manifesting as ligneous conjunctivitis that has_material_basis_in homozygous or compound heterozygous mutation in PLG on chromosome 6q26. [-]
pure hair and nail ectodermal dysplasia		An ectodermal dysplasia characterized by onychodys..[+] An ectodermal dysplasia characterized by onychodystrophy and severe hypotrichosis without nonectodermal or other ectodermal manifestations. [-]
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	PVHH; proliferative vasculopathy and hydranencepha.. [+] PVHH; proliferative vasculopathy and hydranencephaly/hydrocephaly; cerebral proliferative glomeruloid vasculopathy; encephaloclastic proliferative vasculopathy; EPV; Fowler syndrome; Fowler vasculopathy; hydrocephaly/hydranencephaly due to cerebral vasculopathy; hydranencephaly, Fowler type [-]	A syndrome characterized by hydranencephaly, glome..[+] A syndrome characterized by hydranencephaly, glomeruloid vasculopathy of the central nervous system and retinal vessels, diffuse clastic ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications, and fetal akinesia with arthrogryposis that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR2 gene on chromosome 14q24.3. [-]
primary hyperoxaluria type 1	peroxisomal alanine-glyoxylate aminotransferase de.. [+] peroxisomal alanine-glyoxylate aminotransferase deficiency; alanine-glyoxylate aminotransferase deficiency; hepatic AGT deficiency; HP1; oxalosis I; serine:pyruvate aminotransferase deficiency; glycolic aciduria; serine pyruvate aminotransferase deficiency [-]	A primary hyperoxaluria characterized by failure t..[+] A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumulation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in the AGXT gene on chromosome 2q37.3. [-]
primary hyperoxaluria type 2	oxalosis IIglyoxylate reductase/hydroxypyruvate re.. [+] oxalosis IIglyoxylate reductase/hydroxypyruvate reductase deficiency; D-glycerate dehydrogenase deficiency; HP2; L-glyceric aciduria; glyoxylate reductase/hydroxypyruvate reductase deficiency; oxalosis II [-]	A primary hyperoxaluria characterized by elevated ..[+] A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the GRHPR gene on chromosome 9p13.2. [-]
primary hyperoxaluria type 3	primary hyperoxaluria type III; PH III; HP3	A primary hyperoxaluria characterized by recurring..[+] A primary hyperoxaluria characterized by recurring calcium oxalate stones that has_material_basis_in homozygous or compound heterozygous mutation in the HOGA1 gene on chromosome 10q24.2. [-]
Potocki-Shaffer syndrome	PSS; proximal 11p deletion syndrome; 11p11.2 delet.. [+] proximal 11p deletion syndrome; PSS; 11p11.2 deletion [-]	A syndrome characterized by craniofacial abnormali..[+] A syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that has_material_basis_in heterozygosity for a contiguous gene deletion on chromosome 11p11.2. [-]
proprotein convertase 1/3 deficiency	PCI deficiency; obesity and endocrinopathy due to .. [+] PCI deficiency; obesity and endocrinopathy due to impaired processing of prohormones; obesity due to prohormone convertase I deficiency; obesity with impaired prohormone processing [-]	A syndrome characterized by severe childhood obesi..[+] A syndrome characterized by severe childhood obesity, hypoadrenalism, hypogonadism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones that has_material_basis_in homozygous or compound heterozygous mutation in the PCSK1 gene on chromosome 5q15. [-]
partial cryptophthalmia	incomplete cryptophthalmos	An isolated cryptophthalmia characterized by an il..[+] An isolated cryptophthalmia characterized by an ill-defined upper eyelid that is completely fused, often over an abnormally developed globe and a keratinized cornea. [-]
pancreatic hypoplasia-diabetes-congenital heart disease syndrome	pancreatic agenesis and congenital heart defects; .. [+] pancreatic agenesis and congenital heart defects; PACHD; congenital heart defects and other congenital anomalies; congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease; HDCA; Yorifuji-Okuno syndrome [-]	A syndrome characterized by partial pancreatic age..[+] A syndrome characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies that has_material_basis_in heterozygous mutation in GATA6 on chromosome 18q11.2. [-]	1 articles
Paganini-Miozzo syndrome	MRXSPM	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features that has_material_basis_in hemizygous mutation in the HS6ST2 gene on chromosome Xq26.2. [-]
primary ciliary dyskinesia 36	CILD36; X-linked primary ciliary dyskinesia 36	A primary ciliary dyskinesia characterized by abse..[+] A primary ciliary dyskinesia characterized by absence of outer dynein arms, defects in inner dynein arms, chronic airway disease and recurrent sinopulmonary infections, male infertility, and laterality defects in about half of patients that has_material_basis_in hemizygous mutation in the PIH1D3 gene on chromosome Xq22.3. [-]
primary ciliary dyskinesia 44	primary ciliary dyskinesia 44 without situs invers.. [+] primary ciliary dyskinesia 44 without situs inversus; CILD44 [-]	A primary ciliary dyskinesia characterized by recu..[+] A primary ciliary dyskinesia characterized by recurrent sinopulmonary infections, defective mucociliary clearance, short respiratory epithelial cell motile cilia with decreased motility, and absence of situs inversus that has_material_basis_in homozygous or compound heterozygous mutation in the NEK10 gene on chromosome 3p24.1. [-]
primary ciliary dyskinesia 38	primary ciliary dyskinesia 38 with or without situ.. [+] primary ciliary dyskinesia 38 with or without situs inversus; CILD38 [-]	A primary ciliary dyskinesia characterized by sign..[+] A primary ciliary dyskinesia characterized by significant loss of both the inner and outer dynein arms, chronic airway disease, recurrent sinopulmonary infections, and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP300 gene on chromosome 11q22.1. [-]
primary ciliary dyskinesia 40	primary ciliary dyskinesia 40 with or without situ.. [+] primary ciliary dyskinesia 40 with or without situs inversus; CILD40 [-]	A primary ciliary dyskinesia characterized by a su..[+] A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH9 gene on chromosome 17p12. [-]
primary ciliary dyskinesia 39	primary ciliary dyskinesia 39 with or without situ.. [+] primary ciliary dyskinesia 39 with or without situs inversus; CILD39 [-]	A primary ciliary dyskinesia characterized by cili..[+] A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the LRRC56 gene on chromosome 11p15.5. [-]
primary ciliary dyskinesia 42	primary ciliary dyskinesia 42 without situs invers.. [+] primary ciliary dyskinesia 42 without situs inversus; CILD42 [-]	A primary ciliary dyskinesia characterized by seve..[+] A primary ciliary dyskinesia characterized by severe reduction or absence of multiple motile cilia in respiratory epithelia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the MCIDAS gene on chromosome 5q11.2. [-]
primary ciliary dyskinesia 43	primary ciliary dyskinesia 43 with or without situ.. [+] primary ciliary dyskinesia 43 with or without situs inversus; CILD43 [-]	A primary ciliary dyskinesia characterized by redu..[+] A primary ciliary dyskinesia characterized by reduced generation of multiple motile cilia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections,variable infertility, and laterality defects in about half of patients that has_material_basis_in heterozygous mutation in FOXJ1 on chromosome 17q25.1. [-]
primary ciliary dyskinesia 45	primary ciliary dyskinesia 45 without situs invers.. [+] primary ciliary dyskinesia 45 without situs inversus; CILD45 [-]	A primary ciliary dyskinesia characterized by abse..[+] A primary ciliary dyskinesia characterized by absence of inner dynein arms with some axonemal disorganization in airway epithelial cells, absence of both inner and outer dynein arms in sperm from infertile male patients, recurrent sinopulmonary infections, defective mucociliary clearance, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the TTC12 gene on chromosome 11q23.2. [-]
primary ciliary dyskinesia 41	CILD41	A primary ciliary dyskinesia characterized by hype..[+] A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that has_material_basis_in homozygous or compound heterozygous mutation in the GAS2L2 gene on chromosome 17q12. [-]
photosensitive trichothiodystrophy 2	TTD2	A photosensitive trichothiodystrophy that has_mate..[+] A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC3 gene on chromosome 2q14.3. [-]
photosensitive trichothiodystrophy 3	trichothiodystrophy complementation group A; TTD3; .. [+] trichothiodystrophy complementation group A; TTD3 [-]	A photosensitive trichothiodystrophy that has_mate..[+] A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2H5 gene on chromosome 6q25.3. [-]
photosensitive trichothiodystrophy 1	TTD1	A photosensitive trichothiodystrophy that has_mate..[+] A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC2 gene on chromosome 19q13.32. [-]
phosphoglycerate kinase 1 deficiency	PGK1 deficiency; glycogen storage disease due to p.. [+] PGK1 deficiency; glycogen storage disease due to phosphoglycerate kinase 1 deficiency; glycogenosis due to phosphoglycerate kinase 1 deficiency; GSD due to phosphoglycerate kinase 1 deficiency [-]	A glucose metabolism disease characterized by impa..[+] A glucose metabolism disease characterized by impaired ability to break down glucose resulting in the variable presentation of hemolytic anemia, myopathy, and neurologic anomalies that has_material_basis_in hemizygous or homozygous mutation in the PGK1 gene on chromosome Xq21.1. [-]
pituitary adenoma 5	pituitary adenoma 5, multiple types; PITA5	A pituitary adenoma characterized by development o..[+] A pituitary adenoma characterized by development of different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in the CDH23 gene on chromosome 10q22.1. [-]
pituitary adenoma 1	pituitary adenoma 1, multiple types; PITA1	A pituitary adenoma characterized by different typ..[+] A pituitary adenoma characterized by different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in AIP on chromosome 11q13.2. [-]
pituitary adenoma 3	pituitary adenoma 3, multiple types; PITA3	A pituitary adenoma characterized by development o..[+] A pituitary adenoma characterized by development of predominantly GH-secreting pituitary adenomas but also in some patients ACTH-secreting adenomas that has_material_basis_in somatic mutation in the GNAS gene on chromosome 20q13.32. [-]
primary coenzyme Q10 deficiency 9	COQ10D9	A coenzyme Q10 deficiency disease characterized by..[+] A coenzyme Q10 deficiency disease characterized by onset in the first decade of life of cerebellar ataxia associated with cerebellar atrophy that has_material_basis_in mutation homozygous or compound heterozygous in the COQ5 gene on chromosome 12q24.31. [-]
primary ovarian insufficiency 18	premature ovarian failure 18; POF18	A primary ovarian insufficiency characterized by i..[+] A primary ovarian insufficiency characterized by irregular menstrual cycles and cessation of menstruation in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1. [-]
primary ovarian insufficiency 19	premature ovarian failure 19; POI19; POF19	A primary ovarian insufficiency characterized by i..[+] A primary ovarian insufficiency characterized by irregular menses that cease in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the HSF2BP gene on chromosome 21q22. [-]

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