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Disease	Synonyms	Description	Articles
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. [-]
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. [-]
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 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 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 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 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. [-]
posterior fossa ependymoma		A high grade ependymoma that is located within the..[+] A high grade ependymoma that is located within the posterior fossa. [-]
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 3	Amyloidosis cutis dyschromica	A primary cutaneous amyloidosis that is characteri..[+] A primary cutaneous amyloidosis that is characterized by deposits of keratinocyte-derived amyloid in the skin and that has_material_basis_in homozygous or compound heterozygous mutation in the GPNMB gene on chromosome 7p15. Onset occurs before puberty and involves macular or reticulate hyperpigmentation admixed with symmetrically distributed guttate hypopigmented and hyperpigmented lesions. [-]
primary hypoalphalipoproteinemia 1	familial HDL deficiency; familial hypoalphalipopro.. [+] familial HDL deficiency; familial hypoalphalipoproteinemia [-]	A hypolipoproteinemia that is characterized by low..[+] A hypolipoproteinemia that is characterized by low levels of high-density lipoprotein in the blood and that has_material_basis_in heterozygous mutation in the ABC1 gene on chromosome 9q31, which is also the site of mutations causing Tangier disease. [-]
primary hypoalphalipoproteinemia 2	Apolipoprotein A-I deficiency	A hypolipoproteinemia that is characterized by dys..[+] A hypolipoproteinemia that is characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol, is generally an autosomal recessive disorder associated with extensive atherosclerosis, xanthomas, and corneal opacities, and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the APOA1 gene on chromosome 11q23. [-]
pretibial dystrophic epidermolysis bullosa		An epidermolysis bullosa dystrophica that is chara..[+] An epidermolysis bullosa dystrophica that is characterized by recurrent blistering and scarring, mainly in the pretibial area and that has_material_basis_in heterozygous or compound heterozygous mutation in the type VII collagen gene (COL7A1) on chromosome 3p21. The lesions often show lichenoid features. Pretibial epidermolysis bullosa is allelic to autosomal dominant and recessive dystrophic epidermolysis bullosa. [-]
primary cutaneous gamma-delta T-cell lymphoma	Primary Cutaneous Gamma-Delta T Cell Lymphomas; cu.. [+] Primary Cutaneous Gamma-Delta T Cell Lymphomas; cutaneous gamma/delta T-cell lymphoma [-]	A primary cutaneous T-cell non-Hodgkin lymphoma th..[+] A primary cutaneous T-cell non-Hodgkin lymphoma that is characterized by the clonal cutaneous proliferation of activated mature gamma-delta T cells with a cytotoxic phenotype. [-]
peroxisome biogenesis disorder 1B		A peroxisome biogenesis disorder that is character..[+] A peroxisome biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21. [-]
peroxisome biogenesis disorder 3B		A peroxisome biogenesis disorder that has_material..[+] A peroxisome biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17. [-]
pituitary blastoma	Pituitary Gland Blastoma	A pituitary cancer that is characterized by featur..[+] A pituitary cancer that is characterized by features of Cushing disease, with elevated blood ACTH levels and hypercortisolism arising within the fetal anterior pituitary and associated with DICER1 mutations. [-]
pineocytoma	Pinealoma; Pinealocytoma	An endocrine organ benign neoplasm arising from th..[+] An endocrine organ benign neoplasm arising from the pineal gland that is composed of small, uniform, mature cells resembling pineocytes with occasional large pineocytomatous rosettes. It may show a wide range of divergent phenotypes, including neuronal, glial, melanocytic, photoreceptor and mesenchymal differentiation. [-]
papillary tumor of the pineal region	Papillary tumour of the pineal region	A pineal gland cancer that is characterized by the..[+] A pineal gland cancer that is characterized by the presence of neuroepithelial cells and a papillary architecture. [-]
posterior fossa group A ependymoma	Posterior fossa group A (PFA) ependymoma; Posterio.. [+] Posterior fossa group A (PFA) ependymoma; Posterior Fossa Ependymoma, Group A (PFA) [-]	A posterior fossa ependymoma that arises in the po..[+] A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns, including CpG island hypermethylation, global DNA hypomethylation, reduction of nuclear H3 p.K28me3 (K27me3) expression, and EZHIP overexpression. [-]
posterior fossa group B ependymoma	Posterior fossa group B (PFB) ependymoma; Posterio.. [+] Posterior fossa group B (PFB) ependymoma; Posterior Fossa Ependymoma, Group B (PFB) [-]	A posterior fossa ependymoma that arises in the po..[+] A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns including retention of nuclear H3 p.K28me3 (K27me3) expression, absence of CpG island hypermethylation, absence of global DNA hypomethylation, and absence of EZHIP overexpression. [-]
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures	PAMDDFS	A lissencephaly that is characterized by progressi..[+] A lissencephaly that is characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP2 gene on chromosome 10q26. [-]
pulmonary venoocclusive disease 1		A pulmonary venoocclusive disease that has_materia..[+] A pulmonary venoocclusive disease that has_material_basis_in heterozygous mutation in the BMPR2 gene on chromosome 2q33. [-]
pulmonary venoocclusive disease 2	FAMILIAL PULMONARY CAPILLARY HEMANGIOMATOSIS	A pulmonary venoocclusive disease that has_materia..[+] A pulmonary venoocclusive disease that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2AK4 gene on chromosome 15q15 and that is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation. [-]
peroxisome biogenesis disorder 14B		A peroxisome biogenesis disorder that is character..[+] A peroxisome biogenesis disorder that is characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy and that has_material_basis_in homozygous mutation in the PEX11B gene on chromosome 1q21. [-]
pituicytoma		A posterior pituitary gland neoplasm that is chara..[+] A posterior pituitary gland neoplasm that is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. [-]
papillary glioneuronal tumor	Papillary glioneuronal tumour	A central nervous system benign neoplasm that is c..[+] A central nervous system benign neoplasm that is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae. [-]
polymorphous low grade neuroepithelial tumour of the young	Polymorphous low-grade neuroepithelial tumour of t.. [+] Polymorphous low-grade neuroepithelial tumour of the young; Massively Calcified Low Grade Glioma [-]	A central nervous system benign neoplasm that is c..[+] A central nervous system benign neoplasm that is characterized by the presence of oligodendroglioma-like components, may also contain astrocytic components and is associated with seizures and in many cases refractory epilepsy. [-]
primary diffuse large B-cell lymphoma of the central nervous system		A diffuse large B-cell lymphoma arising from the c..[+] A diffuse large B-cell lymphoma arising from the central nervous system. [-]
primary intracranial sarcoma, DICER1-mutant		A brain sarcoma that is composed of malignant pleo..[+] A brain sarcoma that is composed of malignant pleomorphic or spindle neoplastic cells typically demonstrating myogenic and/or chondroid differentiation. Cytoplasmic eosinophilic globules and myxoid stroma formation are usually present. It is associated with mutations in the DICER1 gene. [-]
progeroid syndrome	progeroid syndromes; progeroid disease	A syndrome that is characterized by the premature ..[+] A syndrome that is characterized by the premature onset of age-related pathologies. [-]	4 articles
Pierpont syndrome	Plantar lipomatosis-unusual facies-developmental d.. [+] Plantar lipomatosis-unusual facies-developmental delay syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that is characterized by distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies and that has_material_basis_in heterozygous mutation in the TBL1XR1 gene on chromosome 3q26. [-]
Paget's disease of bone 2	Paget disease of bone-2	A Paget's disease of bone that has_material_basis_..[+] A Paget's disease of bone that has_material_basis_in heterozygous mutation in the TNFRSF11A gene, which encodes RANK, on chromosome 18q21. [-]
Paget's disease of bone 3	Paget disease of bone-3	A Paget's disease of bone that has_material_basis_..[+] A Paget's disease of bone that has_material_basis_in heterozygous mutation in the SQSTM1 gene on chromosome 5q35. [-]
Paget's disease of bone 4	Paget disease of bone-4	A Paget's disease of bone that has_material_basis_..[+] A Paget's disease of bone that has_material_basis_in linkage to the 5q31 region within 12.2 cM, between D5S642 and D5S1972. [-]

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