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Disease	Synonyms	Description	Articles	Phenotypes
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 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. [-]
pontocerebellar hypoplasia type 1	pontocerebellar hypoplasia with infantile spinal m.. [+] pontocerebellar hypoplasia with infantile spinal muscular atrophy; pontocerebellar hypoplasia with anterior horn cell disease; PCH1; Norman disease [-]	A pontocerebellar hypoplasia characterized by spin..[+] A pontocerebellar hypoplasia characterized by spinal cord anterior horn cell degeneration combined with pontocerebellar hypoplasia. [-]
pontocerebellar hypoplasia type 1D	PCH1D	A pontocerebellar hypoplasia type 1 characterized ..[+] A pontocerebellar hypoplasia type 1 characterized by severe hypotonia and motor neuronopathy detectable at birth or in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC9 gene on chromosome 4q27. [-]
pontocerebellar hypoplasia type 11	PCH11	A pontocerebellar hypoplasia characterized by seve..[+] A pontocerebellar hypoplasia characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D23 gene on chromosome 3q12.1-q12.2. [-]
pontocerebellar hypoplasia type 14	PCH14	A pontocerebellar hypoplasia characterized by cong..[+] A pontocerebellar hypoplasia characterized by congenital onset of progressive microcephaly, poor or absent psychomotor development, and severely impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PPIL1 gene on chromosome 6p21.2. [-]
pontocerebellar hypoplasia type 15	PCH15	A pontocerebellar hypoplasia that has_material_bas..[+] A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the CDC40 gene on chromosome 6q21. [-]
pontocerebellar hypoplasia type 12	PCH12; COASY-related pontocerebellar hypoplasia	A pontocerebellar hypoplasia that has_material_bas..[+] A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the COASY gene on chromosome 17q21.2. [-]
pontocerebellar hypoplasia type 2	PCH2	A pontocerebellar hypoplasia characterized by pont..[+] A pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy. [-]
pontocerebellar hypoplasia type 2F	PCH2F	A pontocerebellar hypoplasia type 2 characterized ..[+] A pontocerebellar hypoplasia type 2 characterized by progressive microcephaly and variable neurologic signs and symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the TSEN15 gene on chromosome 1q25.3. [-]
pontocerebellar hypoplasia type 1E	PCH1E	A pontocerebellar hypoplasia type 1 characterized ..[+] A pontocerebellar hypoplasia type 1 characterized by onset shortly after birth of severe hypotonia and respiratory insufficiency with most patients dying within weeks of birth that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A46 gene on chromosome 5q22.1. [-]
pontocerebellar hypoplasia type 1F	PCH1F	A pontocerebellar hypoplasia type 1 characterized ..[+] A pontocerebellar hypoplasia type 1 characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC1 gene on chromosome 10q24.1. [-]
pontocerebellar hypoplasia type 13	PCH13	A pontocerebellar hypoplasia characterized by glob..[+] A pontocerebellar hypoplasia characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem that has_material_basis_in homozygous or compound heterozygous mutation in the VPS51 gene on chromosome 11q13.1. [-]
pontocerebellar hypoplasia type 16	PCH16	A pontocerebellar hypoplasia characterized by hypo..[+] A pontocerebellar hypoplasia characterized by hypotonia and severe global developmental delay apparent from early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the MINPP1 gene on chromosome 10q23.2. [-]
pontocerebellar hypoplasia type 1C	PCH1C	A pontocerebellar hypoplasia type 1 characterized ..[+] A pontocerebellar hypoplasia type 1 characterized by severe muscle weakness and failure to thrive apparent in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC8 gene on chromosome 13q13.3. [-]
cardiac tamponade	pericardial tamponade; Rose's tamponade	A pericardial effusion in which fluid accumulates ..[+] A pericardial effusion in which fluid accumulates in the pericardium (the sac in which the heart is enclosed) and the pericardial spaces fills up faster than the pericardial sac can stretch. [-]
cancer	primary cancer; malignant neoplasm; malignant tumo.. [+] primary cancer; malignant neoplasm; malignant tumor [-]	A disease of cellular proliferation that is malign..[+] A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis. [-]	140 articles	93 matches
melanotic neuroectodermal tumor	Pigmented neuroectodermal tumour of infancy; Infan.. [+] Pigmented neuroectodermal tumour of infancy; Infantile Melanotic neuroectodermal neoplasm; Melanotic neuroectodermal tumor (morphologic abnormality); Melanotic neuroectodermal tumor of infancy (morphologic abnormality); Melanotic neuroectodermal tumor; Melanotic neuroectodermal tumor of infancy; Melanotic neuroectodermal tumour of infancy; melanotic neuroectodermal tumour; Melanotic neuroectodermal tumour [-]	n_a

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