| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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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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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; that has material basis in heterozygous mutation in the DCTN1 gene on chromosome 2p13.. The mean age at onset is 48 years; the mean disease duration is five years. Parkinsonism and psychiatric changes (depression, apathy, character changes, and withdrawal) tend to occur early; severe weight loss and hypoventilation manifest later.
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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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n_a
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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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Plasmodium ovale malaria
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Malariaby Plasmodium ovale; Ovale malaria;
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A malaria characterized as a relatively mild form .. [+]A malaria characterized as a relatively mild form caused by a parasite Plasmodium ovale, which is characterized by tertian chills and febrile paroxysms, and that ends spontaneously.
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Plasmodium vivax malaria
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Vivax Malaria; Malaria by Plasmodium vivax;
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A malaria that is caused by the protozoan parasite.. [+]A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals.
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Plica syndrome
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n_a
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Plummer's disease
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Plummer disease; Toxic nodular Goiter; Toxic nodul..
[+]Plummer disease; Toxic nodular Goiter; Toxic nodular goiter NOS (disorder); Toxic nodular goiter unspecified (disorder); Toxic nodular goiter (disorder); Toxic nodular goiter; toxic nodular goiter;
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n_a
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Poland syndrome
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Poland's syndactyly;
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A physical disorder that is characterized by missi.. [+]A physical disorder that is characterized by missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand.
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Polyomavirus-associated nephropathy
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PVAN; polyomavirus associated nephropathy;
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A viral infectious disease has_material_basis_in B.. [+]A viral infectious disease has_material_basis_in BK polyomavirus.
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Pontiac fever
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A legionellosis that involves a milder respiratory.. [+]A legionellosis that involves a milder respiratory illness without pneumonia. Symptoms include fever, headache and muscle aches which last for 2 to 5 days.
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Potocki-Lupski syndrome
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17p11.2 microduplication syndrome; chromosome 17p1..
[+]17p11.2 microduplication syndrome; chromosome 17p11.2 duplication syndrome; trisomy 17p11.2;
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A chromosomal duplication syndrome characterized b.. [+]A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in duplication of a region of chromosome 17p11.2.
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Potocki-Shaffer syndrome
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11p11.2 deletion; PSS; proximal 11p deletion syndr..
[+]11p11.2 deletion; PSS; proximal 11p deletion syndrome;
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A syndrome characterized by craniofacial abnormali.. [+]A syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that has_material_basis_in heterozygosity for a contiguous gene deletion on chromosome 11p11.2.
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Potter's syndrome
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Potter syndrome; Potter sequence;
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A renal agenesis characterized by the typical phys.. [+]A renal agenesis characterized by the typical physical appearance and associated pulmonary hypoplasia of a newborn as a direct result of kidney failure, oligohydramnios and compression while in the uterus.
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Powassan encephalitis
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A viral infectious disease that results_in inflamm.. [+]A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Powassan virus, which is transmitted_by Ixodes and transmitted_by Dermacentor species of ticks. The infection has_symptom headache, has_symptom fever, has_symptom vomiting, has_symptom stiff neck, has_symptom sleepiness, has_symptom breathing distress, has_symptom tremors, has_symptom confusion, has_symptom seizures, has_symptom paralysis, and has_symptom coma.
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Prader-Willi syndrome
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Prader Willi syndrome;
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A chromosomal disease that is characterized by wea.. [+]A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating and obesity.
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Prieto syndrome
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Prieto-Badia-Mulas syndrome; X-linked intellectual..
[+]Prieto-Badia-Mulas syndrome; X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome;
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A syndromic X-linked intellectual disability chara.. [+]A syndromic X-linked intellectual disability characterized by intellectual disability, facial dysmorphism, patella luxation, clinodactyly, subcortical cerebral atrophy, and abnormal growth of the teeth that has_material_basis_in variation in the chromosome region Xp11-q21.
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Prinzmetal angina
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angina inversa; Prinzmetal's angina; Prinzmetal's ..
[+]angina inversa; Prinzmetal's angina; Prinzmetal's variant angina; variant angina; variant angina pectoris;
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A coronary artery vasospasm characterized by spasm.. [+]A coronary artery vasospasm characterized by spasms of the coronary arteries that occur while at rest, generally late at night or early in the morning, resulting in severe chest pain with preserved exercise capacity.
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Proteus syndrome
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Wiedemann's syndrome;
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A PTEN hamartoma tumor syndrome that is characteri.. [+]A PTEN hamartoma tumor syndrome that is characterized by overgrowth of the bones, skin, and other tissues.
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Pthirus pubis infestation
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crabs; Infestation by Phthirus pubis (disorder); P..
[+]crabs; Infestation by Phthirus pubis (disorder); Pediculosis Pubis; Phthiriasis pubis; Phthirus pubis; Phthirus/pediculus pubis - pubic lice - crabs (& infestation); Phthirus pubis [pubic louse]; Infestation by Phthirus pubis; Pediculus pubis; Phthirus/pediculus pubis - pubic lice - crabs;
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A lice infestation that involves parasitic infesta.. [+]A lice infestation that involves parasitic infestation by pubic lice Pthirus pubis, which are found in the pubic hair, less commonly in eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk and scalp. The symptoms include itching in the pubic and groin area. Intense itching leads to scratching which can cause sores and secondary bacterial infection of the skin.
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Q fever
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Infection due to Coxiella burnetii (disorder); Inf..
[+]Infection due to Coxiella burnetii (disorder); Infection due to Coxiella burnetii;
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A primary bacterial infectious disease that is a z.. [+]A primary bacterial infectious disease that is a zoonotic infectious disease affecting multiple organs, has_material_basis_in Coxiella burnetii, which is transmitted_by inhalation of air contaminated by barnyard dust containing dried placental material, birth fluids, or excreta of infected herd animals, transmitted_by ingestion of contaminated milk, transmitted_by tick bites and transmitted_by contact with infected person. The infection has_symptom fever, has_symptom headache, has_symptom cough, has_symptom pleuritic chest pain, has_symptom myalgia and has_symptom arthralgia.
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Qazi Markouizos syndrome
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Dysharmonic skeletal maturation - muscular fibre d..
[+]Dysharmonic skeletal maturation - muscular fibre disproportion; Qazi-Markouizos syndrome;
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A syndrome that is characterized by hypotonia, con.. [+]A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation.
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Quebec platelet disorder
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BDPLT5; platelet-type bleeding disorder 5; factor ..
[+]BDPLT5; platelet-type bleeding disorder 5; factor V Quebec;
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A blood platelet disease characterized by autosoma.. [+]A blood platelet disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degredation that has_material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22.
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Queensland tick typhus
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Australian tick typhus ; Queensland tick typhus (d..
[+]Australian tick typhus ; Queensland tick typhus (disorder); Rickettsia australis spotted fever; North Queensland tick typhus;
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A spotted fever that has_material_basis_in Rickett.. [+]A spotted fever that has_material_basis_in Rickettsia australis, which is transmitted_by ticks (Ixodes holocyclus). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash, and has_symptom lymphadenopathy.
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RASopathy
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RAS/mitogen-activated protein kinase syndrome;
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A syndrome that has_material_basis_in mutations in.. [+]A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction.
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6 articles
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24 matches
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RELA fusion-positive ependymoma
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C11orf95 fusion-positive supratentorial ependymoma..
[+]C11orf95 fusion-positive supratentorial ependymoma; Supratentorial C11ORF95-RELA fused ependymoma;
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A supratentorial ependymoma that has_material_basi.. [+]A supratentorial ependymoma that has_material_basis_in presence of a RELA fusion gene.
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REM sleep behavior disorder
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Rapid eye movement sleep behavior disorder ; Rapid..
[+]Rapid eye movement sleep behavior disorder ; Rapid eye movement sleep behaviour disorder; REM sleep behaviour disorder;
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A sleep disorder that involves abnormal behavior i.. [+]A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement.
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RIDDLE syndrome
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Radiosensitivity-immunodeficiency-dysmorphic featu..
[+]Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome; RNF168 deficiency;
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A syndrome that is characterized by increased radi.. [+]A syndrome that is characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature, and that has_material_basis_in homozygous or compound heterozygous mutation in the ring finger protein 168 (RNF168) gene on chromosome 3q29.
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RNASET2-deficient cystic leukoencephalopathy
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cystic leukoencephalopathy without megalencephaly;..
[+]cystic leukoencephalopathy without megalencephaly; infantile-onset RNASET2 deficient cystic leukoencephalopathy;
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A leukodystrophy that is characterized by non-prog.. [+]A leukodystrophy that is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment.
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Rafiq syndrome
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MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15;
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An autosomal recessive intellectual developmental .. [+]An autosomal recessive intellectual developmental disorder that is characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia and that has_material_basis_in homozygous mutation in the MAN1B1 gene on chromosome 9q34.
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Rapp-Hodgkin syndrome
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anhidrotic ectodermal dysplasia with cleft lip/pal..
[+]anhidrotic ectodermal dysplasia with cleft lip/palate; ectodermal dysplasia syndrome, Rapp-Hodgkin type; RHS; ectodermal dysplasia, Rapp-Hodgkin type;
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An ectodermal dysplasia characterized by abnormal .. [+]An ectodermal dysplasia characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate.
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Raynaud disease
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Raynaud's disease (disorder); Raynaud's syndrome (..
[+]Raynaud's disease (disorder); Raynaud's syndrome (disorder); Raynaud's syndrome (disorder) [Ambiguous]; Raynaud's syndrome NOS (disorder); Raynaud's syndrome; Raynaud's disease;
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A peripheral vascular disease that is characterize.. [+]A peripheral vascular disease that is characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or cyanosis in response to cold exposure or stress.
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Raynaud-Claes syndrome
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MRX15; MRX49; MRXSRC; X-linked mental retardation ..
[+]MRX15; MRX49; MRXSRC; X-linked mental retardation 15; X-linked mental retardation 49;
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A syndromic X-linked intellectual disability chara.. [+]A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability, impaired language development, and variable additional features including; behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms that has_material_basis_in heterozygous or hemizygous mutation in the CLCN4 gene on chromosome Xp22.2.
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Refsum disease
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HMSN type IV; Refsum's disease; Heredopathia atact..
[+]HMSN type IV; Refsum's disease; Heredopathia atactica polyneuritiformis; HSMN IV; adult Refsum disease; classic Refsum disease; phytanic acid oxidase deficiency;
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A lipid metabolic disorder that is characterized b.. [+]A lipid metabolic disorder that is characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues.
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Reis-Bucklers corneal dystrophy
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anterior limiting membrane dystrophy type I; granu..
[+]anterior limiting membrane dystrophy type I; granular corneal dystrophy type III; RBCD; corneal dystrophy of Bowman layer type I; geographic corneal dystrophy;
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An epithelial-stromal TGFBI dystrophy that is char.. [+]An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and irregular geographic opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea.
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