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Disease	Synonyms	Description	Articles	Phenotypes
primary biliary cholangitis 3	PBC3; BILIARY CIRRHOSIS, PRIMARY, 3	A primary biliary cholangitis that has_material_ba..[+] A primary biliary cholangitis that has_material_basis_in variation at the IL12RB2 locus on chromosome 1p31.2. [-]
primary biliary cholangitis 4	PBC4; BILIARY CIRRHOSIS, PRIMARY, 4	A primary biliary cholangitis that has_material_ba..[+] A primary biliary cholangitis that has_material_basis_in variation near the IRF5-TNPO3 locus on chromosome 7q32. [-]
primary biliary cholangitis 5	PBC5; BILIARY CIRRHOSIS, PRIMARY, 5	A primary biliary cholangitis that has_material_ba..[+] A primary biliary cholangitis that has_material_basis_in variation at the ZPBP2 locus on chromosome 17q12-q21. [-]
progressive leukoencephalopathy with ovarian failure	ovarioleukodystrophy	An leukodystrophy characterized by loss of motor a..[+] An leukodystrophy characterized by loss of motor and cognitive skills, usually with onset in young adulthood, that has_material_basis_in compound heterozygous mutation in the AARS2 gene on chromosome 6p21. [-]
paroxysmal nonkinesigenic dyskinesia 3	generalized epilepsy and paroxysmal dyskinesia	A dystonia characterized by epilepsy and attacks o..[+] A dystonia characterized by epilepsy and attacks of dystonic or choreathetotic movements, which may coexist or occur singly, that has_material_basis_in heterozygous mutation in the KCNMA1 gene on chromosome 10q22. [-]
Parkinson's disease 25	PARK25; autosomal recessive early-onset Parkinson .. [+] PARK25; autosomal recessive early-onset Parkinson disease 25 with impaired intellectual development [-]	An early-onset Parkinson's disease characterized b..[+] An early-onset Parkinson's disease characterized by mild to moderately impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PTPA gene on chromosome 9q34.11. [-]
polyhydramnios, megalencephaly, and symptomatic epilepsy	Pretzel syndrome; PMSE syndrome; PMSE	A syndrome characterized by polyhydramnios, distin..[+] A syndrome characterized by polyhydramnios, distinctive craniofacial features, infantile-onset epilepsy, hypotonia, macrocephaly, and global developmental delay that has_material_basis_in homozygous mutation in the STRADA gene on chromosome 17q23.3. [-]
peeling skin syndrome 1	peeling skin syndrome type B; PSS1; generalized in.. [+] PSS1; peeling skin syndrome type B; generalized inflammatory peeling skin syndrome; inflammatory peeling skin syndrome [-]	A peeling skin syndrome that has_material_basis_in..[+] A peeling skin syndrome that has_material_basis_in homozygous mutation in the CDSN gene on chromosome 6p21.33. [-]
peeling skin syndrome 2	PSS2; acral peeling skin syndrome; APSS; localized.. [+] PSS2; acral peeling skin syndrome; APSS; localized peeling skin syndrome [-]	A peeling skin syndrome that has_material_basis_in..[+] A peeling skin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TGM5 gene on chromosome 15q15.2. [-]
peeling skin syndrome 3	PSS3; peeling skin syndrome type A	A peeling skin syndrome that has_material_basis_in..[+] A peeling skin syndrome that has_material_basis_in homozygous mutation in the CHST8 gene on chromosome 19q13.11. [-]
peeling skin syndrome 4	PSS4; AREI; autosomal recessive exfoliative ichthy.. [+] PSS4; AREI; autosomal recessive exfoliative ichthyosis; exfoliative ichthyosis; ichthyosis bullosa of Siemens-like; ichthyosis exfoliativa [-]	A peeling skin syndrome that has_material_basis_in..[+] A peeling skin syndrome that has_material_basis_in homozygous mutation in the CSTA gene on chromosome 3q21.1. [-]
peeling skin syndrome 5	PSS5; autosomal recessive exfoliative ichthyosis; .. [+] PSS5; autosomal recessive exfoliative ichthyosis; exfoliative ichthyosis; ichthyosis exfoliativa [-]	A peeling skin syndrome that has_material_basis_in..[+] A peeling skin syndrome that has_material_basis_in homozygous mutation in the SERPINB8 gene on chromosome 18q22.1. [-]
peeling skin syndrome 6	PSS6; peeling skin syndrome type A	A peeling skin syndrome that has_material_basis_in..[+] A peeling skin syndrome that has_material_basis_in homozygous mutation in the FLG2 gene on chromosome 1q21.3. [-]
PLACK syndrome	peeling skin with leukonychia, acral punctate kera.. [+] peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads [-]	An skin disease characterized by peeling skin in a..[+] An skin disease characterized by peeling skin in association with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads that has_material_basis_in homozygous mutation in the CAST gene on chromosome 5q15. [-]
physical disorder	congenital disorder	A disease that has_material_basis_in a genetic abn..[+] A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. [-]	157 articles	296 matches
pycnodysostosis		An osteochondrodysplasia that has_material_basis_i..[+] An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges. [-]
pseudoachondroplasia	pseudoachondroplastic dysplasia; PSEUDOACHONDROPLA.. [+] pseudoachondroplastic dysplasia; PSEUDOACHONDROPLASIA; SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC [-]	An osteochondrodysplasia that has_material_basis_i..[+] An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism. [-]
PHARC syndrome	polyneyropathy, hearing loss, ataxia, retinitis pi.. [+] polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [-]	A syndrome that is characterized by polyneuropathy..[+] A syndrome that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract. [-]
PTEN hamartoma tumor syndrome		A syndrome characterized as a spectrum of disorder..[+] A syndrome characterized as a spectrum of disorders (Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome) caused by germline mutations of the PTEN gene. [-]
Peters plus syndrome	Peters-plus syndrome; Peters anomaly-short limb dw.. [+] Peters-plus syndrome; Peters anomaly-short limb dwarfism syndrome; Krause-Kivlin syndrome [-]	A syndrome that is characterized by anterior chamb..[+] A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay/intellectual disability. [-]
primary mediastinal B-cell lymphoma	Primary mediastinal clear cell lymphoma of B-cell .. [+] Primary mediastinal clear cell lymphoma of B-cell type; Large cell lymphoma of the mediastinum; Mediastinal diffuse large-cell lymphoma with sclerosis [-]	A diffuse large B-cell lymphoma that is is charact..[+] A diffuse large B-cell lymphoma that is is characterized by a diffuse proliferation of medium to large B-cells associated with sclerosis. [-]
punctate palmoplantar keratoderma type II		A punctate palmoplantar keratoderma that is charac..[+] A punctate palmoplantar keratoderma that is characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections on the palms, soles and digits. [-]
punctate palmoplantar keratoderma type I	punctate palmoplantar keratoderma type 1B; punctat.. [+] punctate palmoplantar keratoderma type 1B; punctate palmoplantar keratoderma type 1A [-]	A punctate palmoplantar keratoderma that is charac..[+] A punctate palmoplantar keratoderma that is characterized by multiple hyperkeratotic centrally indented papules that develop in early adolescence or later and are irregularly distributed on the palms and soles. [-]
primary spontaneous pneumothorax		A pneumothorax that is characterized by an abnorma..[+] A pneumothorax that is characterized by an abnormal accumulation of air in the space between the lungs and the chest cavity that can result in the partial or complete collapse of a lung. [-]
pseudohypoparathyroidism type IB		A pseudohypoparathyroidism characterized by isolat..[+] A pseudohypoparathyroidism characterized by isolated renal parathyroid hormone (PTH) resistance resulting in hypocalcemia, hyperphosphatemia and elevated PTH levels that has_material_basis_in mutations that alter the methylation pattern of GNAS on 20q13.32. [-]
Perrault syndrome 6		A Perrault syndrome that is characterized by senso..[+] A Perrault syndrome that is characterized by sensorineural deafness in both males and females, with females also presenting with ovarian dysgenesis resulting in amenorrhea and infertility and that has_material_basis_in homozygous mutation in the ERAL1 gene on chromosome 17q11. [-]
primary ciliary dyskinesia 37		A primary ciliary dyskinesia that has_material_bas..[+] A primary ciliary dyskinesia that has_material_basis_in homozygous mutation in the DNAH1 gene on chromosome 3p21. [-]
peripheral nervous system benign neoplasm		A central nervous system benign neoplasm the is lo..[+] A central nervous system benign neoplasm the is located_in the peripheral nervous system. [-]
polycystic kidney disease		A cystic kidney disease that is characterized by t..[+] A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure. [-]	14 articles
Phelan-McDermid syndrome	22q13.3 deletion syndrome; monosomy 22q13 syndrome.. [+] 22q13.3 deletion syndrome; monosomy 22q13 syndrome [-]	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in a deletion, translocation, ring chromosome formation or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene and that is characterized by neonatal hypotonia, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. Most cases of 22q13.3 deletion syndrome are not inherited with 20% of cases (autosomal dominant) inherited from a parent. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. [-]
pustular psoriasis 14	acrodermatitis continua of Hallopeau; deficiency o.. [+] acrodermatitis continua of Hallopeau; deficiency of IL-36R antagonist [-]	A psoriasis characterized by sudden, repeated epis..[+] A psoriasis characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein that has_material_basis_in homozygous or compound heterozygous mutation in the IL36RN gene on chromosome 2q14. [-]
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. [-]
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 diffuse large B-cell lymphoma that is characteri..[+] A diffuse 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. [-]
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. [-]
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. [-]

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