| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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Parkinson's disease 15
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Parkinsonian-pyramidal syndrome; pallidopyramidal ..
[+]Parkinsonian-pyramidal syndrome; pallidopyramidal syndrome; autosomal recessive early-onset Parkinson disease 15; autosomal recessive early-onset Parkinson's disease 15;
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An early-onset Parkinson's disease that has_materi.. [+]An early-onset Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3.
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Parkinson's disease 17
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autosomal dominant Parkinson disease 17; Parkinson..
[+]autosomal dominant Parkinson disease 17; Parkinson disease 17;
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A late-onset Parkinson disease that has_material_b.. [+]A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13.
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Parkinson's disease 19A
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juvenile onset Parkinson disease 19A; juvenile ons..
[+]juvenile onset Parkinson disease 19A; juvenile onset Parkinson's disease 19A;
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An early-onset Parkinson's diseas that has_materia.. [+]An early-onset Parkinson's diseas that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31.
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Parkinson's disease 2
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autosomal recessive juvenile Parkinson disease 2; ..
[+]autosomal recessive juvenile Parkinson disease 2; autosomal recessive juvenile Parkinson's disease 2;
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An early-onset Parkinson's disease that has_materi.. [+]An early-onset Parkinson's disease that has_material_basis_in mutation in the parkin gene on chromosome 6q25.2-q27.
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Parkinson's disease 20
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early-onset Parkinson disease 20; early-onset Park..
[+]early-onset Parkinson disease 20; early-onset Parkinson's disease 20;
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An early-onset Parkinson disease that has_material.. [+]An early-onset Parkinson disease that has_material_basis_in homozygous mutation in the SYNJ1 gene on chromosome 21q22.
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Parkinson's disease 21
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PARK21; Parkinson disease 21;
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A late onset Parkinson's disease characterized by .. [+]A late onset Parkinson's disease characterized by autosomal dominant inheritance and mean age of onset at 67 years.
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Parkinson's disease 22
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autosomal dominant Parkinson's disease 22;
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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.
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Parkinson's disease 23
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autosomal recessive early-onset Parkinson disease ..
[+]autosomal recessive early-onset Parkinson disease 23; autosomal recessive early-onset Parkinson's disease 23;
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An early-onset Parkinson disease that has_material.. [+]An early-onset Parkinson disease that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13C gene on chromosome 15q22.
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Parkinson's disease 25
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autosomal recessive early-onset Parkinson disease ..
[+]autosomal recessive early-onset Parkinson disease 25 with impaired intellectual development; PARK25;
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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.
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Parkinson's disease 3
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autosomal dominant Lewy body Parkinson disease 3; ..
[+]autosomal dominant Lewy body Parkinson disease 3; autosomal dominant Parkinson disease 3; PARK3; Parkinson disease 3;
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A late onset Parkinson's disease characterized by .. [+]A late onset Parkinson's disease characterized by mean age of onset of 59 years and that has_material_basis_in mutation in a locus in the 2p13 chromosome region.
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Parkinson's disease 4
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autosomal dominant Lewy body Parkinson disease 4; ..
[+]autosomal dominant Lewy body Parkinson disease 4; autosomal dominant Parkinson disease 4; autosomal dominant Parkinson's disease 4;
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A late onset Parkinson disease that has_material_b.. [+]A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene on chromosome 4q22.
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Parkinson's disease 6
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early-onset Parkinson disease 6; autosomal recessi..
[+]early-onset Parkinson disease 6; autosomal recessive early-onset Parkinson disease 6; autosomal recessive early-onset Parkinson's disease 6; PARK6;
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An early-onset Parkinson's disease that has_materi.. [+]An early-onset Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12.
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Parkinson's disease 7
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autosomal recessive early-onset Parkinson disease ..
[+]autosomal recessive early-onset Parkinson disease 7; autosomal recessive early-onset Parkinson's disease 7;
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An early-onset Parkinson's disease that has_materi.. [+]An early-onset Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36.
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1 articles
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Parkinson's disease 8
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autosomal dominant Parkinson disease 8; autosomal ..
[+]autosomal dominant Parkinson disease 8; autosomal dominant Parkinson's disease 8;
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A late onset Parkinson's disease that has_material.. [+]A late onset Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene on chromosome 12q12.
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1 articles
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Parkinsonism
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A movement disorder that is characterized by distu.. [+]A movement disorder that is characterized by disturbances of balance, gait and posture.
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Partington syndrome
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X-linked Russell-Silver syndrome;
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A syndrome characterized by intellectual disabilit.. [+]A syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria.
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Patau syndrome
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D1 Trisomy ; trisomy 13; Patau's syndrome;
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n_a
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Pearson syndrome
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Pearson Marrow-Pancreas Syndrome;
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A mitochondrial metabolism disease that is charact.. [+]A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction.
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Pediculus humanus capitis infestation
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Pediculosis capitis (disorder); Pediculus capitis;..
[+]Pediculosis capitis (disorder); Pediculus capitis; Pediculus capitis [head louse]; head louse infestation; Pediculosis capitis; Pediculus capitis infestation;
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A lice infestation that involves colonization of t.. [+]A lice infestation that involves colonization of the hair and skin by the parasitic insect Pediculus humanus capitis, which feeds on blood several times daily and resides close to the scalp to maintain its body temperature. The symptoms include tickling feeling of something moving in the hair, itching, caused by an allergic reaction to louse saliva, and irritability.
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Pediculus humanus corporis infestation
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body louse infestation; Pediculus corporis; Pedicu..
[+]body louse infestation; Pediculus corporis; Pediculus humanus infestation; Pediculus corporis [body louse];
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A lice infestation that is a cutaneous condition c.. [+]A lice infestation that is a cutaneous condition caused by parasitic infestation of body lice Pediculus humanus corporis, which feed on the human blood. Body lice can spread epidemic typhus, trench fever, and louse-borne relapsing fever.
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Pelger-Huet anomaly
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A hematopoietic system disease characterized by wh.. [+]A hematopoietic system disease characterized by white blood cells with unusually shaped nuclei that has_material_basis_in heterozygous mutation in LBR on chromosome 1q42.12.
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1 articles
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Pelizaeus-Merzbacher disease
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HLD1; Leukodystrophy, sudanophilic; Pelizaeus Merz..
[+]HLD1; Leukodystrophy, sudanophilic; Pelizaeus Merzbacher brain sclerosis; Pelizaeus-Merzbacher brain sclerosis; sudanophilic leukodystrophy, Paelizeus-Merzbacher type; diffuse familial brain sclerosis; hypomyelinating leukodystrophy 1; PMD;
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A hypomyelinating leukodystrophy characterized by .. [+]A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.
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Pendred Syndrome
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congenital hypothyroidism due to dyshormonogenesis..
[+]congenital hypothyroidism due to dyshormonogenesis 2B; deafness with goiter; goiter-deafness syndrome; TDH2B; thyroid dyshormonogenesis 2B; genetic defect in thyroid hormonogenesis 2B;
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A syndrome characterized by bilateral prelingual s.. [+]A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q.
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4 articles
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Perlman syndrome
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nephroblastomatosis - fetal ascites - macrosomia -..
[+]nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor; nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor; renal hamartomas, nephroblastomatosis and fetal gigantism;
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A syndrome characterized by polyhydramnios with ne.. [+]A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome.
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Peroxisome biogenesis disorder 10B
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A peroxisomal biogenesis disorder that is characte.. [+]A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in compound heterozygous mutation in the PEX3 gene on chromosome 6q24.
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Peroxisome biogenesis disorder 11B
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A peroxisomal biogenesis disorder that is characte.. [+]A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous mutation in the PEX13 gene on chromosome 2p15.
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Peroxisome biogenesis disorder 4B
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A peroxisomal biogenesis disorder that is characte.. [+]A peroxisomal 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 PEX6 gene on chromosome 6p21.1, or overexpression of a heterozygous mutation in PEX6 due to allelic expression imbalance resulting from a polymorphism on the mutant allele in the PEX6 3-prime UTR.
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Peroxisome biogenesis disorder 5B
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A peroxisomal biogenesis disorder that is characte.. [+]A peroxisomal 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 PEX2 gene on chromosome 8q21.
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Peroxisome biogenesis disorder 6B
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A peroxisomal biogenesis disorder that is characte.. [+]A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in compound heterozygous mutation in the PEX10 gene on chromosome 1p36.
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Peroxisome biogenesis disorder 7B
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A peroxisomal biogenesis disorder that is characte.. [+]A peroxisomal 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 PEX26 gene on chromosome 22q11.21.
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Peroxisome biogenesis disorder 8B
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A peroxisomal biogenesis disorder that is characte.. [+]A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous mutation in the PEX16 gene on chromosome 11p11.
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Peroxisome biogenesis disorder 9B
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A peroxisomal biogenesis disorder that is characte.. [+]A peroxisomal 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 PEX7 gene on chromosome 6q23.
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Perrault syndrome
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A syndrome that is characterized by sensorineural .. [+]A syndrome that is characterized by sensorineural hearing loss and ovarian failure.
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Perrault syndrome 6
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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.
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Perry syndrome
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parkinsonism with alveolar hypoventilation and men..
[+]parkinsonism with alveolar hypoventilation and mental depression;
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A syndrome characterized by parkinsonism, hypovent.. [+]A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss and that has_material_basis_in heterozygous mutation in the DCTN1 gene on chromosome 2p13.
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Peters anomaly
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A corneal disease characterized by a central corne.. [+]A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3.
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Peters plus syndrome
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Krause-Kivlin syndrome; Peters anomaly-short limb ..
[+]Krause-Kivlin syndrome; Peters anomaly-short limb dwarfism syndrome; Peters-plus syndrome;
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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.
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Peutz-Jeghers syndrome
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gastric Peutz-Jeghers polyp; Peutz Jeghers colon p..
[+]gastric Peutz-Jeghers polyp; Peutz Jeghers colon polyp; Peutz Jeghers polyp; Peutz-Jeghers polyp of small Intestine; Colonic hamartomatous polyp; peutz-jeghers small bowel hamartoma;
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An intestinal disease characterized by melanocytic.. [+]An intestinal disease characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms that has_material_basis_in heterozygous mutation in the serine/threonine kinase STK11 gene on chromosome 19p13.
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Peyronie's disease
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Peyronie disease; Peyronie's Fibromatosis; Indurat..
[+]Peyronie disease; Peyronie's Fibromatosis; Induratio penis plastica;
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n_a
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Pfeiffer syndrome
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acrocephalosyndactylia type V;
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An acrocephalosyndactylia that has_material_basis_.. [+]An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull.
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Phelan-McDermid syndrome
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22q13.3 deletion syndrome; monosomy 22q13 syndrome..
[+]22q13.3 deletion syndrome; monosomy 22q13 syndrome;
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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.
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Phlebotomus fever
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Sandfly-borne arboviral fever; Sandfly-borne bunya..
[+]Sandfly-borne arboviral fever; Sandfly-borne bunyavirus fever (disorder); Sandfly fever; Sandfly-borne bunyavirus fever; Sandfly-borne phleboviral disease; pappataci fever;
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A viral infectious disease that results in infecti.. [+]A viral infectious disease that results in infection, has_material_basis_in Sandfly fever Naples virus, or has_material_basis_in Sandfly fever sicilian virus, which are transmitted by Phlebotomus papatasi sandfly. The infection has symptom fever, has symptom severe frontal headaches, has symptom muscle ache, has symptom joint aches, has symptom flushing of the face, and has symptom tachycardia.
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Phlegmonous dacryocystitis
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n_a
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Pick's disease
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LOBAR ATROPHY OF BRAIN; Pick disease; PICK DISEASE..
[+]LOBAR ATROPHY OF BRAIN; Pick disease; PICK DISEASE OF BRAIN; Dementia in Pick's disease (disorder); Dementia in Pick's disease;
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A frontotemporal dementia that is characterized by.. [+]A frontotemporal dementia that is characterized by a spectrum of neuropsychiatric symptoms ranging from those that affect the patient's personality to those that cause a decline in cognitive function.
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Pierpont syndrome
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Plantar lipomatosis-facial dysmorphism-development..
[+]Plantar lipomatosis-facial dysmorphism-developmental delay syndrome; Plantar lipomatosis-unusual facies-developmental delay syndrome;
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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.
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Pierson syndrome
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microcoria-congenital nephrosis syndrome;
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A syndrome characterized by nephrotic syndrome wit.. [+]A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p21.
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Pitt-Hopkins syndrome
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A syndrome characterized by intellectual disabilit.. [+]A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21.
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Pitt-Hopkins-like syndrome 2
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PTHSL2;
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A syndromic intellectual disability characterized .. [+]A syndromic intellectual disability characterized by developmental delay and intellectual disability with many patients also displaying infantile hypotonia and autistic features that has_material_basis_in compound heterozygous or homozygous mutation in the NRXN1 gene on chromosome 2p16.3.
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Plasmodium falciparum malaria
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Falciparum Malaria; Falciparum malaria (disorder);..
[+]Falciparum Malaria; Falciparum malaria (disorder); Falciparum malaria [malignant tertian]; malignant tertian fever (finding); Plasmodium falciparum malaria, unspecified; Plasmodium falciparum malaria, unspecified (disorder); falciparum malaria; Falciparum malaria; Malaria fever, subtertian; malignant tertian fever;
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A malaria described as a severe form of the diseas.. [+]A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever.
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4 articles
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Plasmodium malariae malaria
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Malaria by Plasmodium malariae; Quartan Malaria;
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A malaria caused by a parasite Plasmodium malariae.. [+]A malaria caused by a parasite Plasmodium malariae, which is marked by recurrence of paroxysms at 72-hour intervals.
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