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Disease	Synonyms	Description	Articles
peroxisome biogenesis disorder 7A	peroxisome biogenesis disorder 7A (Zellweger)	A Zellweger syndrome that has_material_basis_in ho..[+] A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX26 gene on chromosome 22q11. [-]
peroxisome biogenesis disorder 8A	peroxisome biogenesis disorder 8A (Zellweger)	A Zellweger syndrome that has_material_basis_in ho..[+] A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX16 gene on chromosome 11p11. [-]
peroxisome biogenesis disorder 10A	peroxisome biogenesis disorder 10A (Zellweger)	A Zellweger syndrome that has_material_basis_in ho..[+] A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX3 gene on chromosome 6q24. [-]
peroxisome biogenesis disorder 11A	peroxisome biogenesis disorder 11A (Zellweger)	A Zellweger syndrome that has_material_basis_in ho..[+] A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX13 gene on chromosome 2p15. [-]
peroxisome biogenesis disorder 12A	peroxisome biogenesis disorder 12A (Zellweger)	A Zellweger syndrome that has_material_basis_in ho..[+] A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX19 gene on chromosome 1q23. [-]
peroxisome biogenesis disorder 13A	peroxisome biogenesis disorder 13A (Zellweger)	A Zellweger syndrome that has_material_basis_in ho..[+] A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX14 gene on chromosome 1p36. [-]
Parkinson's disease 22	autosomal dominant Parkinson's disease 22	A late onset Parkinson's disease that has_material..[+] A late onset Parkinson's disease that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the coiled-coil-helix-coiled-coil-helix domain containing 2 gene on chromosome 7p11.2. [-]
PAPA syndrome	pyogenic arthritis, pyoderma gangrenosum and acne; .. [+] pyogenic arthritis, pyoderma gangrenosum and acne [-]	A syndrome that is characterized by pyoderma gangr..[+] A syndrome that is characterized by pyoderma gangrenosum, pyogenic arthritis, acne and suppurative hidradenitis and heterozygous mutation in the PSTPIP1 gene on chromosome 15q24. [-]
PEHO syndrome		A brain disease that is characterized by extreme c..[+] A brain disease that is characterized by extreme cerebellar atrophy due to almost total granule neuron loss. [-]
polygenic disease		A genetic disease that is characterized by the add..[+] A genetic disease that is characterized by the additive contributions of variants in multiple genes at different loci. [-]
peroxisome biogenesis disorder 2B		A peroxisomal biogenesis disorder that has_materia..[+] A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13.3. [-]
posterior polymorphous corneal dystrophy 4		A posterior polymorphous corneal dystrophy that is..[+] A posterior polymorphous corneal dystrophy that is characterized by an irregular posterior corneal surface with occasional opacities of variable size and shape and that has_material_basis_in heterozygous mutation in the GRHL2 gene on chromosome 8q22. [-]
prothrombin thrombophilia		A thrombophilia that is characterized by increases..[+] A thrombophilia that is characterized by increases the risk of blood clots including deep vein thrombosis and pulmonary embolism and that has_material_basis_in heterozygous mutation in the thrombin gene (F2 gene) on chromosome 11p11. [-]
polymyositis		A myositis that is characterized by muscle weaknes..[+] A myositis that is characterized by muscle weakness affecting both sides of your body. [-]
pyridoxine-dependent epilepsy		An epilepsy that is characterized by intractable s..[+] An epilepsy that is characterized by intractable seizures within the first weeks to months of life that are not controlled with antiepileptic drugs but respond both clinically and electrographically to large daily supplements of pyridoxine. [-]
partial androgen insensitivity syndrome	Reifenstein syndrome	An androgen insensitivity syndrome that is charact..[+] An androgen insensitivity syndrome that is characterized by a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action. [-]
plasmablastic lymphoma		A large B-cell lymphoma that is characterized by t..[+] A large B-cell lymphoma that is characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells. [-]
proximal symphalangism 1		A proximal symphalangism that is characterized by ..[+] A proximal symphalangism that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22. [-]
proximal symphalangism 2		A proximal symphalangism that is characterized by ..[+] A proximal symphalangism that is characterized by absence of the cuboid bone and lack of shortness of the first and fifth metacarpal bones, and the presence of distal interphalangeal joint fusions and flat feet and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. [-]
persistent mild asthma		A chronic asthma that is characterized by severity..[+] A chronic asthma that is characterized by severity with symptoms two or more days per week, nighttime awakenings three to four times per month, use of short-acting beta agonist for symptom control two or more days per week and minor limitation of normal activity. [-]
persistent moderate asthma		A chronic asthma that is characterized by severity..[+] A chronic asthma that is characterized by severity with daily symptoms, nighttime awakenings more than once per week, daily use of short-acting beta agonist for symptom control and some limitation of normal activity. [-]
persistent severe asthma		A chronic asthma that is characterized by severity..[+] A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control several times per day and extremely limited normal activity. [-]
pemphigoid		An autoimmune disease of skin and connective tissu..[+] An autoimmune disease of skin and connective tissue that is characterized by subepidermal blistering especially in the lower abdomen, groin, and flexor surfaces of the extremities, creating tense blisters that do not break easily. [-]
pemphigus foliaceus	pemphigus foliaceous	A pemphigus that is characterized by blistering le..[+] A pemphigus that is characterized by blistering lesions on otherwise healthy-looking skin. [-]
paraneoplastic pemphigus		A pemphigus that is characterized by painful blist..[+] A pemphigus that is characterized by painful blisters and denuded areas of the mouth, lips, oesophagus and skin. [-]
Parkinsonism		A movement disorder that is characterized by distu..[+] A movement disorder that is characterized by disturbances of balance, gait and posture. [-]
primary ovarian insufficiency 1	premature ovarian failure 1; Fragile X-associated .. [+] premature ovarian failure 1; Fragile X-associated primary ovarian insufficiency; FMR1-related primary ovarian insufficiency [-]	A primary ovarian insufficiency that has_material_..[+] A primary ovarian insufficiency that has_material_basis_in premutations in the FMR1 gene on chromosome Xq27.3, within a region defined as POF1 (Xq26-q28). [-]
primary ovarian insufficiency 2A		A primary ovarian insufficiency that has_material_..[+] A primary ovarian insufficiency that has_material_basis_in mutation in the DIAPH2 gene on chromosome Xq22. [-]
primary ovarian insufficiency 2B		A primary ovarian insufficiency that has_material_..[+] A primary ovarian insufficiency that has_material_basis_in mutation in the POF1B gene. [-]
primary ovarian insufficiency 3		A primary ovarian insufficiency characterized by t..[+] A primary ovarian insufficiency characterized by the cessation of ovarian function before the age of 40 years, with amenorrhea, hypoestrogenism, and elevated serum gonadotropin concentrations that has_material_basis_in heterozygous mutation in the FOXL2 gene on chromosome 3q22. [-]
primary ovarian insufficiency 4		A primary ovarian insufficiency that has_material_..[+] A primary ovarian insufficiency that has_material_basis_in caused by mutation in the BMP15 gene on chromosome Xp11. [-]
primary ovarian insufficiency 5		A primary ovarian insufficiency that has_material_..[+] A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NOBOX gene on chromosome 7q35. [-]
primary ovarian insufficiency 6		A primary ovarian insufficiency that has_material_..[+] A primary ovarian insufficiency that has_material_basis_in heterozygous or homozygous mutation in the FIGLA gene on chromosome 2p13. [-]
primary ovarian insufficiency 7		A primary ovarian insufficiency that has_material_..[+] A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33. [-]
primary ovarian insufficiency 8		A primary ovarian insufficiency that has_material_..[+] A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the STAG3 gene on chromosome 7q22. [-]
primary ovarian insufficiency 9		A primary ovarian insufficiency that has_material_..[+] A primary ovarian insufficiency that has_material_basis_in compound heterozygous mutation in the HFM1 gene on chromosome 1p22. [-]
primary ovarian insufficiency 10		A primary ovarian insufficiency that is characteri..[+] A primary ovarian insufficiency that is characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells and that has_material_basis_in homozygous mutation in the MCM8 gene on chromosome 20p. [-]
primary ovarian insufficiency 11		A primary ovarian insufficiency that is characteri..[+] A primary ovarian insufficiency that is characterized by secondary amenorrhea and hypergonadotropic ovarian insufficiency, with elevated serum follicle-stimulating hormone levels before age 40 years and that has_material_basis_in heterozygous mutation in the ERCC6 gene on chromosome 10q11. [-]
primary ovarian insufficiency 12		A primary ovarian insufficiency that has_material_..[+] A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the SYCE1 gene on chromosome 10q26. [-]
primary ovarian insufficiency 13		A primary ovarian insufficiency that has_material_..[+] A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the MSH5 gene on chromosome 6p21. [-]
primary ovarian insufficiency 14		A primary ovarian insufficiency that has_material_..[+] A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the GDF9 gene on chromosome 5q31. [-]
primary ovarian insufficiency 15		A primary ovarian insufficiency that is characteri..[+] A primary ovarian insufficiency that is characterized by onset of oligomenorrhea in the third decade of life, with small ovaries, reduced number of follicles, and elevated gonadotropic hormones and that has_material_basis_in homozygous mutation in the FANCM gene on chromosome 14q21. [-]
primary ovarian insufficiency 16		A primary ovarian insufficiency that is characteri..[+] A primary ovarian insufficiency that is characterized by onset of amenorrhea early in the fourth decade of life, accompanied by elevated follicle-stimulating hormone levels and low estradiol levels and that has_material_basis_in heterozygous mutation in the BNC1 gene on chromosome 15q25. [-]
primary ovarian insufficiency 17		A primary ovarian insufficiency that is characteri..[+] A primary ovarian insufficiency that is characterized by early cessation of menses after initial menarche, with small ovaries and uterus and that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36. [-]
pleomorphic xanthoastrocytoma BRAF mutant		An anaplastic pleomorphic xanthoastrocytoma that h..[+] An anaplastic pleomorphic xanthoastrocytoma that has_material_basis_in BRAF mutations. [-]
posterior fossa ependymoma		A high grade ependymoma that is located within the..[+] A high grade ependymoma that is located within the posterior fossa. [-]
pericytoma with t(7;12)		A perivascular tumor that is characterized by a pe..[+] A perivascular tumor that is characterized by a perivascular pattern of spindle-to-ovoid cell proliferation and that has_material_basis_in t(7;12)(p22;q13) translocation with resultant ACTB-GLI1 fusion. [-]
polymicrogyria		A brain disease that is characterized by malformat..[+] A brain disease that is characterized by malformation of the developing brain characterized by abnormal cortical lamination and an unusual folding pattern of the cerebral cortex such that all or part of the brain surface is taken up by an excessive number of small folds (gyri). [-]	1 articles
primary localized cutaneous amyloidosis 1	familial primary localized cutaneous amyloidosis-1.. [+] familial primary localized cutaneous amyloidosis-1 [-]	A primary cutaneous amyloidosis that has_material_..[+] A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the gene encoding oncostatin M receptor-beta (OSMR) on chromosome 5p13. [-]
primary localized cutaneous amyloidosis 2		A primary cutaneous amyloidosis that has_material_..[+] A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the IL31RA gene on chromosome 5q11. [-]

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