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Disease	Synonyms	Description	Articles
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 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. [-]
Paget's disease of bone 5	Paget disease of bone-5; Familial osteoectasia; He.. [+] Paget disease of bone-5; Familial osteoectasia; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis; Juvenile Paget disease [-]	A Paget's disease of bone that is characterized by..[+] A Paget's disease of bone that is characterized by short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness and that has_material_basis_in osteoprotegerin deficiency caused by homozygous or compound heterozygous mutation in the TNFRSF11B gene on chromosome 8q24. [-]
Paget's disease of bone 6	Paget disease of bone-6	A Paget's disease of bone that is characterized by..[+] A Paget's disease of bone that is characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton and that has_material_basis_in heterozygous mutation in the ZNF687 gene on chromosome 1q21. [-]
primary progressive aphasia		A frontotemporal dementia that characterized by th..[+] A frontotemporal dementia that characterized by the progressive onset of language impairments, and gradual deterioration of these abilities over time, associated with atrophy of the language network of the brain, including frontal, temporal, and parietal regions of the left hemisphere. It is caused by a loss of tissue (atrophy) in the area of the brain that is responsible for producing language. [-]
progressive non-fluent aphasia	Agramatic variant of primary progressive aphasia; .. [+] Agramatic variant of primary progressive aphasia; nonfluent agrammatic PPA [-]	A primary progressive aphasia that is characterize..[+] A primary progressive aphasia that is characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech. [-]
poorly differentiated chordoma		A chordoma that is characterized by loss of SMARCB..[+] A chordoma that is characterized by loss of SMARCB1 expression and that is composed of sheets or nests of malignant epithelioid cells with abundant eosinophilic cytoplasm. [-]
progressive pseudorheumatoid arthropathy of childhood	spondyloepiphyseal dysplasia tarda-progressive art.. [+] spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome [-]	A osteochondrodysplasia characterized by autosomal..[+] A osteochondrodysplasia characterized by autosomal recessive inheritance with typical onset around 3 years of age, progressive severe degenerative joint disease, platyspondyly, epiphyseal enlargement but absence of inflammatory joint disease that has_material_basis_in homozygous or compound heterozygous mutation in the CHST3 gene on chromosome 10q22. [-]
paroxysmal nonkinesigenic dyskinesia 2		A dystonia characterized by attacks of dystonic or..[+] A dystonia characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q31. [-]
paroxysmal nonkinesigenic dyskinesia 1		A dystonia that is characterized by attacks of dys..[+] A dystonia that is characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the PNKD metallo-beta-lactamase domain containing gene on chromosome 2q35. [-]
PCWH syndrome	Peripheral demyelinating neuropathy-central dysmye.. [+] Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome; Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease; PCWH; Neurologic Waardenburg-Shah syndrome [-]	A syndrome that is characterized by the associatio..[+] A syndrome that is characterized by the association of the features of Waardenburg-Shah syndrome (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease; see this term) with neurological features, including: neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy, and has_material_basis_in heterozygous mutation in the SRY-box 10 (SOX10) gene on chromosome 22q13. [-]
primary ciliary dyskinesia 1	primary ciliary dyskinesia 1 with or without situs.. [+] primary ciliary dyskinesia 1 with or without situs inversus; CILD1 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has_material_basis_in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13. [-]	1 articles
primary ciliary dyskinesia 21	primary ciliary dyskinesia 21 without situs invers.. [+] primary ciliary dyskinesia 21 without situs inversus; CILD21 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with a missing Nexin link, infantile onset of chronic sinopulmonary infections, and has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23. [-]
primary ciliary dyskinesia 22	primary ciliary dyskinesia 22 with or without situ.. [+] primary ciliary dyskinesia 22 with or without situs inversus; CILD22 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent respiratory infections, persistent rhinosinusitis, otitis media, chronic cough, variable presence of situs abnormalities, and has_material_basis_in homozygous or compound heterozygous mutation in the ZMYND10 gene on chromosome 3p21. [-]	1 articles
primary ciliary dyskinesia 14	primary ciliary dyskinesia 14 with or without situ.. [+] primary ciliary dyskinesia 14 with or without situs inversus; CILD14 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC39 gene on chromosome 3q26. [-]
primary ciliary dyskinesia 3	primary ciliary dyskinesia 3 with or without situs.. [+] primary ciliary dyskinesia 3 with or without situs inversus; CILD3 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, ciliary akinesia and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the DNAH5 gene on chromosome 5p15. [-]

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