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A rare primary torsion dystonia characterized by focal or segmental dystonia with onset either in the cranial-cervical region or in the upper limbs. Age of onset varies between 5 years and adulthood, with a mean age of onset of 16 years. Clinical manifestations are generally mild and slowly progressive.
*[v]: ... | Primary dystonia, DYT13 type | c1843264 | 4,800 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98807 | 2021-01-23T17:37:16 | {"gard": ["10537"], "mesh": ["C564354"], "omim": ["607671"], "umls": ["C1843264"], "icd-10": ["G24.1"], "synonyms": ["DYT13", "Primary dystonia with mixed phenotype", "Primary torsion dystonia with predominant craniocervical or upper limb onset"]} |
Dopa-responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development.
## Epidemiology
The prevalence is unknown. There have been appro... | Dopa-responsive dystonia due to sepiapterin reductase deficiency | c0268468 | 4,801 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=70594 | 2021-01-23T17:58:07 | {"gard": ["10365"], "mesh": ["C562657"], "omim": ["612716"], "umls": ["C0268468"], "icd-10": ["G24.1"], "synonyms": ["Autosomal recessive sepiapterin reductase-deficient DRD", "DRD due to SRD", "SPR deficiency", "Sepiapterin reductase deficiency"]} |
Eisenmenger syndrome
Other namesES, Eisenmenger's reaction, Eisenmenger physiology, or Tardive cyanosis
Schematic drawing showing the principles of Eisenmenger's syndrome
SpecialtyMedical genetics
Eisenmenger's syndrome is defined as the process in which a long-standing left-to-right cardiac shunt caused b... | Eisenmenger's syndrome | c0013743 | 4,802 | wikipedia | https://en.wikipedia.org/wiki/Eisenmenger%27s_syndrome | 2021-01-18T18:39:11 | {"gard": ["6323"], "mesh": ["D004541"], "umls": ["C0013743"], "icd-9": ["745.4"], "icd-10": ["Q21.8"], "orphanet": ["97214"], "wikidata": ["Q572695"]} |
A rare coronary artery congenital malformation characterized by an anomalous origin of the left (ALCAPA) or right (ARCAPA) coronary artery from the pulmonary artery, with variable clinical presentation, ranging from asymptomatic to early heart failure and death depending on the degree of development of collateral... | Anomalous origin of coronary artery from the pulmonary artery | c4023252 | 4,803 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=541507 | 2021-01-23T18:55:52 | {"icd-10": ["Q24.5"], "synonyms": ["ACAPA"]} |
A number sign (#) is used with this entry because retinal macular dystrophy-2 (MCDR2) is caused by mutation in the prominin-1 gene (PROM1; 604365).
For a general description and a discussion of genetic heterogeneity of retinal macular dystrophy, see MCDR1 (136550).
Clinical Features
Michaelides et al. (2003) descr... | MACULAR DYSTROPHY, RETINAL, 2 | c0339512 | 4,804 | omim | https://www.omim.org/entry/608051 | 2019-09-22T16:08:22 | {"mesh": ["C562746"], "omim": ["608051"], "orphanet": ["319640"]} |
A rare disorder that disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.
## Epidemiology
Fewer than 20 cases have been reported to date.
## Clinical descript... | Aromatase deficiency | c1960539 | 4,805 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=91 | 2021-01-23T17:18:26 | {"gard": ["365"], "mesh": ["C537436"], "omim": ["613546"], "umls": ["C0853662", "C0878680", "C1960539"], "icd-10": ["E25.8"], "synonyms": ["Congenital estrogen deficiency"]} |
Lymphedema-cerebral arteriovenous anomaly syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this... | Lymphedema-cerebral arteriovenous anomaly syndrome | c1835272 | 4,806 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=86914 | 2021-01-23T17:27:12 | {"gard": ["9217"], "mesh": ["C563612"], "omim": ["152900"], "umls": ["C1835272"]} |
Permanent neonatal diabetes mellitus
Other namesPNDM
SpecialtyNeonatology
Permanent neonatal diabetes mellitus (PNDM) is a newly identified and potentially treatable form of monogenic diabetes. This type of neonatal diabetes is caused by activating mutations of the KCNJ11 gene, which codes for the Kir6.2 sub... | Permanent neonatal diabetes | c1833104 | 4,807 | wikipedia | https://en.wikipedia.org/wiki/Permanent_neonatal_diabetes | 2021-01-18T18:47:15 | {"gard": ["10457"], "mesh": ["C563425"], "umls": ["C1833104"], "orphanet": ["79134", "99885"], "wikidata": ["Q17143640"]} |
Mucolipidosis type 4 is a metabolic condition that affects the body's ability to process certain carbohydrates and fats. As a result, these materials accumulate in cells leading to the various signs and symptoms of the condition. Most people with mucolipidosis type 4 develop severe psychomotor (mental and motor s... | Mucolipidosis type 4 | c0238286 | 4,808 | gard | https://rarediseases.info.nih.gov/diseases/94/mucolipidosis-type-4 | 2021-01-18T17:58:57 | {"mesh": ["D009081"], "omim": ["252650"], "umls": ["C0238286"], "orphanet": ["578"], "synonyms": ["ML 4", "Berman syndrome", "Ganglioside neuraminidase deficiency", "Ganglioside sialidase deficiency", "Mucolipidosis type IV"]} |
Otic polyp
Other namesAural polyp
An intermediate magnification of a H&E stained biopsy from an otic polyp.
SpecialtyENT surgery
An otic polyp is a benign proliferation of chronic inflammatory cells associated with granulation tissue, in response to a longstanding inflammatory process of the middle ear.[1]... | Otic polyp | c0271466 | 4,809 | wikipedia | https://en.wikipedia.org/wiki/Otic_polyp | 2021-01-18T19:09:16 | {"umls": ["C0271466"], "wikidata": ["Q7108724"]} |
Ineffective erythropoiesis is active erythropoiesis with premature death of red blood cells, a decreased output of RBCs from the bone marrow, and, consequently, anemia. It is a condition characterised by the presence or abundance of dysfunctional progenitor cells.[1]
## See also[edit]
* Congenital dyserythrop... | Ineffective erythropoiesis | c0392708 | 4,810 | wikipedia | https://en.wikipedia.org/wiki/Ineffective_erythropoiesis | 2021-01-18T19:01:15 | {"umls": ["C0392708"], "wikidata": ["Q2380264"]} |
A rare genetic neurodegenerative disease characterized by neonatal to infantile onset of hypotonia, developmental delay, regression of motor skills with distal amyotrophy, ataxia, and spasticity, absent speech or dysarthria, and moderate to severe cognitive impairment. Optic atrophy may also be associated. Brain imag... | Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome | c4310667 | 4,811 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=496756 | 2021-01-23T19:05:58 | {"omim": ["617207"], "icd-10": ["G11.0"]} |
Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.
*[v]: View this template
*[t]: Discuss th... | Metabolic myopathy due to lactate transporter defect | c1855577 | 4,812 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=171690 | 2021-01-23T18:37:50 | {"mesh": ["C565449"], "omim": ["245340"], "umls": ["C1855577"], "icd-10": ["G72.8"], "synonyms": ["Erythrocyte lactate transporter defect"]} |
Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.
## Epidemiology
This subtype has only been described in 4 Dut... | Spinocerebellar ataxia type 23 | c1853250 | 4,813 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=101108 | 2021-01-23T17:31:26 | {"gard": ["9950"], "mesh": ["C537201"], "omim": ["610245"], "umls": ["C1853250"], "icd-10": ["G11.2"], "synonyms": ["SCA23"]} |
Medical condition involving extreme fatigue among other symptoms
Chronic fatigue syndrome
Other namesMyalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS),[1] myalgic encephalomyelitis (ME), post-viral fatigue syndrome (PVFS), chronic fatigue immune dysfunction syndrome (CFIDS), systemic exertion intolerance... | Chronic fatigue syndrome | c0015674 | 4,814 | wikipedia | https://en.wikipedia.org/wiki/Chronic_fatigue_syndrome | 2021-01-18T18:50:42 | {"gard": ["7121"], "mesh": ["D015673"], "wikidata": ["Q209733"]} |
A number sign (#) is used with this entry because of evidence that metaphyseal dysplasia without hypotrichosis (MDWH) is caused by compound heterozygous mutation in the RMRP gene (157660) on chromosome 9p13.
Clinical Features
Verloes et al. (1990) presented a series of 6 patients with skeletal changes precisely... | METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS | c1834821 | 4,815 | omim | https://www.omim.org/entry/250460 | 2019-09-22T16:25:26 | {"mesh": ["C563574"], "omim": ["250460"], "orphanet": ["1838", "175"], "synonyms": ["Alternative titles", "CARTILAGE-HAIR HYPOPLASIA-LIKE SKELETAL DYSPLASIA WITHOUT HYPOTRICHOSIS OR IMMUNODEFICIENCY", "CARTILAGE-HAIR HYPOPLASIA VARIANT, SKELETAL MANIFESTATIONS ONLY"], "genereviews": ["NBK84550"]} |
Benign recurrent vertigo (BRV1) has been mapped to chromosome 6p.
Another locus for benign recurrent vertigo has been identified on chromosome 22q12 (BRV2; 613106).
Description
Benign recurrent vertigo (BRV), also known as benign paroxysmal positional vertigo (BPPV), is a common disorder affecting up to 2% of the ... | VERTIGO, BENIGN RECURRENT | c0155502 | 4,816 | omim | https://www.omim.org/entry/193007 | 2019-09-22T16:31:59 | {"doid": ["13941"], "mesh": ["D065635"], "omim": ["193007"], "icd-9": ["386.11"], "synonyms": ["Alternative titles", "VERTIGO, BENIGN PAROXYSMAL POSITIONAL", "VESTIBULOPATHY, FAMILIAL"]} |
MERRF syndrome
Other namesFukuhara syndrome
"ragged red fibers" in MERRF syndrome
SpecialtyNeurology
MERRF syndrome (or myoclonic epilepsy with ragged red fibers) is a mitochondrial disease. It is extremely rare, and has varying degrees of expressivity owing to heteroplasmy.[1] MERRF syndrome affects diffe... | MERRF syndrome | c0162672 | 4,817 | wikipedia | https://en.wikipedia.org/wiki/MERRF_syndrome | 2021-01-18T18:39:52 | {"mesh": ["D017243"], "umls": ["C0162672"], "icd-9": ["277.87"], "orphanet": ["551"], "wikidata": ["Q1881388"]} |
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Sari cancer" – news · newspapers · books · scholar · JSTOR (January 2021) (Learn how and when to remove this templa... | Sari cancer | None | 4,818 | wikipedia | https://en.wikipedia.org/wiki/Sari_cancer | 2021-01-18T18:36:43 | {"wikidata": ["Q2224895"]} |
Cantu et al. (1982) reported 4 unrelated girls with an apparently identical syndrome consisting of mild mental retardation, short stature, macrocranium, prominent forehead, hypertelorism, exophthalmos, cardiac anomalies, cutis laxa, wrinkled palms and soles, joint hyperextensibility, wide ribs, and small vertebral bo... | CRANIOFACIOFRONTODIGITAL SYNDROME | c2676032 | 4,819 | omim | https://www.omim.org/entry/114620 | 2019-09-22T16:43:47 | {"mesh": ["C567298"], "omim": ["114620"], "orphanet": ["363705"], "synonyms": ["Alternative titles", "CANTU CRANIOFACIOFRONTODIGITAL SYNDROME"]} |
A rare T-cell non-Hodgkin lymphoma characterized by a neoplasm of intraepithelial T-cells mostly occurring in the jejunum or ileum in patients with celiac disease. The lesion may be multifocal and form ulcerating nodules, plaques, strictures, or an exophytic mass. The mesentery and mesenteric lymph nodes are commonly... | Enteropathy-associated T-cell lymphoma | c0456889 | 4,820 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=86880 | 2021-01-23T19:03:02 | {"gard": ["9809"], "mesh": ["D058527"], "umls": ["C0456889"], "icd-10": ["C86.2"], "synonyms": ["EATL", "ETTL", "Enteropathy-type T-cell lymphoma", "Intestinal T-cell lymphoma"]} |
A number sign (#) is used with this entry because multiple genetic loci are involved in the causation of this complex trait.
One susceptibility locus for major depressive disorder (MDD1; 608520) has been mapped to chromosome 12q22-q23.2. Another susceptibility locus for major depressive disorder (MDD2; 608691) has b... | MAJOR DEPRESSIVE DISORDER | c1269683 | 4,821 | omim | https://www.omim.org/entry/608516 | 2019-09-22T16:07:43 | {"doid": ["1595"], "mesh": ["D003865"], "omim": ["608516"], "icd-10": ["F32.9"], "synonyms": ["Alternative titles", "UNIPOLAR DEPRESSION"]} |
A number sign (#) is used with this entry because of evidence that immunodeficiency-37 (IMD37) is caused by homozygous mutation in the BCL10 gene (603517) on chromosome 1p22. One such patient has been reported.
Clinical Features
Torres et al. (2014) reported a boy, born of consanguineous parents from Ecuador, with ... | IMMUNODEFICIENCY 37 | c4015195 | 4,822 | omim | https://www.omim.org/entry/616098 | 2019-09-22T15:49:58 | {"omim": ["616098"]} |
Involuntary urination while asleep
Nocturnal enuresis
Other namesNighttime urinary incontinence, sleepwetting, bedwetting
Urine mark on bedding caused by a nocturnal enuresis episode.
SpecialtyPediatrics, Psychiatry, Urology
Nocturnal enuresis, also called bedwetting, is involuntary urination while asleep... | Nocturnal enuresis | c0270327 | 4,823 | wikipedia | https://en.wikipedia.org/wiki/Nocturnal_enuresis | 2021-01-18T18:29:40 | {"mesh": ["D053206"], "umls": ["C0270327"], "icd-9": ["788.36", "307.6"], "icd-10": ["R32", "F98.0"], "wikidata": ["Q318005"]} |
A number sign (#) is used with this entry because autosomal recessive spastic paraplegia-64 (SPG64) is caused by homozygous mutation in the ENTPD1 gene (601752) on chromosome 10q24.
For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800).
Clinical Features
Novarino et al. (2014... | SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE | c3810289 | 4,824 | omim | https://www.omim.org/entry/615683 | 2019-09-22T15:51:18 | {"doid": ["0110815"], "omim": ["615683"], "orphanet": ["401810"], "synonyms": ["SPG64"]} |
Silver-Russell syndrome
Other namesSilver–Russell dwarfism
A somewhat triangular head and delicate facial features are typical characteristics of Silver-Russell syndrome.
SpecialtyMedical genetics
Silver–Russell syndrome (SRS), also called Silver–Russell dwarfism, is a rare congenital growth disorder. In t... | Silver–Russell syndrome | c0175693 | 4,825 | wikipedia | https://en.wikipedia.org/wiki/Silver%E2%80%93Russell_syndrome | 2021-01-18T19:00:13 | {"gard": ["4870"], "mesh": ["D056730"], "umls": ["C0175693"], "icd-9": ["759.89"], "orphanet": ["813"], "wikidata": ["Q2142496"]} |
Not to be confused with Scleroderma.
Scleredema
Other namesBuschke disease, Scleredema of Buschke, and Scleredema adultorum[1][2]
SpecialtyRheumatology, pediatrics
Scleredema, is a rare, self-limiting skin condition defined by progressive thickening and hardening of the skin, usually on the areas of the... | Scleredema | c0036413 | 4,826 | wikipedia | https://en.wikipedia.org/wiki/Scleredema | 2021-01-18T19:03:07 | {"gard": ["5975"], "mesh": ["D012592"], "umls": ["C0036413"], "icd-10": ["M34.8"], "orphanet": ["352763"], "wikidata": ["Q7434137"]} |
A number sign (#) is used with this entry because isobutyryl-CoA dehydrogenase deficiency (IBDD) is caused by homozygous or compound heterozygous mutation in the ACAD8 gene (604773) on chromosome 11q25.
Clinical Features
The first patient with isobutyryl-CoA dehydrogenase deficiency was described by Roe et al. ... | ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY | c1969809 | 4,827 | omim | https://www.omim.org/entry/611283 | 2019-09-22T16:03:24 | {"mesh": ["C535541"], "omim": ["611283"], "orphanet": ["79159"], "synonyms": ["Alternative titles", "IBD DEFICIENCY", "ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8, DEFICIENCY OF", "ACAD8 DEFICIENCY"]} |
Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus.
## Epidemiology
Prevalence is unknown. Approximately 100 families or sporadic cases hav... | Dystrophic epidermolysis bullosa pruriginosa | c1275114 | 4,828 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=89843 | 2021-01-23T18:58:11 | {"mesh": ["C563192"], "omim": ["604129"], "umls": ["C1275114"], "icd-10": ["Q81.2"], "synonyms": ["DEB, pruriginosa", "DEB-Pr", "Pruriginous dystrophic epidermolysis bullosa"]} |
Monothematic delusion
SpecialtyPsychiatry
A monothematic delusion is a delusional state that concerns only one particular topic. This is contrasted by what is sometimes called multi-thematic or polythematic delusions where the person has a range of delusions (typically the case of schizophrenia). These disorde... | Monothematic delusion | None | 4,829 | wikipedia | https://en.wikipedia.org/wiki/Monothematic_delusion | 2021-01-18T19:09:49 | {"wikidata": ["Q3043350"]} |
Non-distal monosomy 12q is a partial autosomal monosomy characterized by variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies, and specific dysmorphic features (prominent forehead and low-set ears). Specific combination depends on the size and bre... | Non-distal monosomy 12q | None | 4,830 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=96160 | 2021-01-23T17:48:47 | {"icd-10": ["Q93.5"], "synonyms": ["Non-distal deletion 12q", "Non-telomeric monosomy 12q"]} |
A spondylodysplasic dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an shortened trunk and hence disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis and infrequently, club feet.
## Epidemiology
Spo... | Spondylocarpotarsal synostosis | c1848934 | 4,831 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3275 | 2021-01-23T16:59:17 | {"gard": ["4974"], "mesh": ["C535780"], "omim": ["272460"], "umls": ["C1848934"], "icd-10": ["Q76.4"], "synonyms": ["Synspondylism"]} |
Chronic focal seizure disorder
Temporal lobe epilepsy
Lobes of the brain. Temporal lobe in green
SpecialtyPsychiatry, Neurology
Temporal lobe epilepsy (TLE) is a chronic disorder of the nervous system characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and ... | Temporal lobe epilepsy | c0014556 | 4,832 | wikipedia | https://en.wikipedia.org/wiki/Temporal_lobe_epilepsy | 2021-01-18T18:39:25 | {"mesh": ["D004833"], "umls": ["C0014556"], "icd-9": ["345.4"], "icd-10": ["G40.2", "G40.1"], "wikidata": ["Q616667"]} |
Epigastric hernia
Abdominal ultrasound of a midline epigastric hernia.
SpecialtyGeneral surgery
An epigastric hernia is a type of hernia that causes fat to push through a weakened area in the walls of the abdomen. It may develop in the epigastrium (upper, central part of the abdomen). Epigastric hernias ... | Epigastric hernia | c0019287 | 4,833 | wikipedia | https://en.wikipedia.org/wiki/Epigastric_hernia | 2021-01-18T18:37:42 | {"umls": ["C0019287"], "wikidata": ["Q779898"]} |
A number sign (#) is used with this entry because of evidence that microphthalmia and/or coloboma, with or without rhizomelic skeletal dysplasia, is caused by heterozygous mutation in the MAB21L2 gene (604357) on chromosome 4q31. One family with a homozygous mutation has also been reported.
Clinical Features
Ra... | MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME | c4014540 | 4,834 | omim | https://www.omim.org/entry/615877 | 2019-09-22T15:50:46 | {"omim": ["615877"], "orphanet": ["424099"], "synonyms": ["Alternative titles", "MICROPHTHALMIA AND/OR COLOBOMA WITH OR WITHOUT RHIZOMELIC SKELETAL DYSPLASIA", "Microphthalmia-coloboma-rhizomelic skeletal dysplasia", "MICROPHTHALMIA, SYNDROMIC 14"]} |
A woman urinating into the mouth of a man; an example of golden showers.
Salirophilia is a sexual fetish or paraphilia that involves deriving erotic pleasure from soiling or disheveling the object of one's desire, usually an attractive person. It may involve tearing or damaging their clothing, covering them in mud o... | Salirophilia | None | 4,835 | wikipedia | https://en.wikipedia.org/wiki/Salirophilia | 2021-01-18T18:58:57 | {"wikidata": ["Q1266211"]} |
A rare low-grade astrocytoma characterized by a benign, slowly growing lesion typically arising in the wall of the lateral ventricles, composed of large ganglioid astrocytes. The tumor corresponds to WHO grade I and typically occurs during the first two decades of life in patients with tuberous sclerosis complex.... | Subependymal giant cell astrocytoma | c0205768 | 4,836 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251618 | 2021-01-23T17:15:06 | {"gard": ["10632"], "mesh": ["D001254"], "umls": ["C0205768"], "icd-10": ["D43.2"], "synonyms": ["SEGA"]} |
This article needs editing for compliance with Wikipedia's Manual of Style. In particular, it has problems with not using MEDMOS. Please help improve it if you can. (May 2018) (Learn how and when to remove this template message)
HDN due to anti-Rhc alloimmunization
SpecialtyHematology
Hemolytic disease of... | Hemolytic disease of the newborn (anti-Rhc) | None | 4,837 | wikipedia | https://en.wikipedia.org/wiki/Hemolytic_disease_of_the_newborn_(anti-Rhc) | 2021-01-18T18:55:25 | {"icd-9": ["773.2"], "icd-10": ["P55.8"], "wikidata": ["Q5712513"]} |
Lymphoepithelial-like carcinoma is a rare, malignant epithelial tumor, composed of undifferentiated epithelial cells with dense lymphoid stroma, mimicking lymphoepithelioma. It often shows association with Epstein-Barr virus infection and can develop in various organs, such as the nasopharynx, stomach, skin, brea... | Lymphoepithelial-like carcinoma | c0334254 | 4,838 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=289682 | 2021-01-23T17:27:02 | {} |
For the Australian music group, see The Blackwater Fever.
Blackwater fever
SpecialtyInfectious disease
Blackwater fever is a complication of malaria infection in which red blood cells burst in the bloodstream (hemolysis), releasing hemoglobin directly into the blood vessels and into the urine, frequently lead... | Blackwater fever | c0005681 | 4,839 | wikipedia | https://en.wikipedia.org/wiki/Blackwater_fever | 2021-01-18T19:09:15 | {"mesh": ["D001742"], "umls": ["C0005681"], "icd-10": ["B50"], "wikidata": ["Q265420"]} |
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy.
## Epidemiology
It was initially described in the Charlevoix-Saguenay region of Quebec where incidenc... | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | c1849140 | 4,840 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98 | 2021-01-23T17:18:16 | {"gard": ["4910"], "mesh": ["C536787"], "omim": ["270550"], "umls": ["C1849140"], "icd-10": ["G11.1"], "synonyms": ["ARSACS", "Autosomal recessive spastic ataxia type 6", "SPAX6"]} |
A number sign (#) is used with this entry because this form of transient neonatal diabetes mellitus is caused by mutation in the ABCC8 gene (600509).
For a phenotypic description and a discussion of genetic heterogeneity of transient neonatal diabetes mellitus, see 601410.
From a group of 73 patients with neonatal ... | DIABETES MELLITUS, TRANSIENT NEONATAL, 2 | c1832386 | 4,841 | omim | https://www.omim.org/entry/610374 | 2019-09-22T16:04:40 | {"doid": ["0060334"], "mesh": ["C563322"], "omim": ["610374"], "orphanet": ["99886"], "synonyms": ["Alternative titles", "TNDM2"]} |
Aromatic alpha-keto acid reductase catalyzes the reduction of phenylpyruvic and p-OH-phenylpyruvic acids to their corresponding lactate derivatives in the presence of NADH2. By study of human-Chinese hamster somatic cell hybrids, Donald (1982) concluded that the gene for KAR is on chromosome 12. Interestingly, KAR's ... | AROMATIC ALPHA-KETO ACID REDUCTASE | c1862520 | 4,842 | omim | https://www.omim.org/entry/107920 | 2019-09-22T16:44:46 | {"omim": ["107920"], "synonyms": ["Alternative titles", "ALPHA-KETO ACID REDUCTASE"]} |
Adrenal tumor
Incidences and prognoses of adrenal tumors.[1]
SpecialtyOncology
An adrenal tumor or adrenal mass[2] is any benign or malignant neoplasms of the adrenal gland, several of which are notable for their tendency to overproduce endocrine hormones. Adrenal cancer is the presence of malignant adrenal ... | Adrenal tumor | c0001624 | 4,843 | wikipedia | https://en.wikipedia.org/wiki/Adrenal_tumor | 2021-01-18T19:10:24 | {"mesh": ["D000310"], "umls": ["C0001624"], "icd-10": ["C74"], "wikidata": ["Q4684715"]} |
Gait abnormality
Foot drop
Shown here, the right foot drops due to paralysis of the tibialis anterior muscle, while the left foot demonstrates normal lifting abilities.
SpecialtyNeurology
Play media
A patient recovering from surgery to treat foot drop, with limited plantar and dorsiflexion.
Foot drop ... | Foot drop | c0085684 | 4,844 | wikipedia | https://en.wikipedia.org/wiki/Foot_drop | 2021-01-18T18:37:02 | {"mesh": ["D020427"], "icd-9": ["736.79"], "icd-10": ["M21.3"], "wikidata": ["Q1942814"]} |
A number sign (#) is used with this entry because of evidence that Crohn disease (IBD19) is associated with variation in the IRGM gene (608212) on chromosome 5q33.
For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease (IBD), including Crohn disease (CD) and ulcerative coli... | INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 19 | c2677079 | 4,845 | omim | https://www.omim.org/entry/612278 | 2019-09-22T16:02:00 | {"mesh": ["C567372"], "omim": ["612278"]} |
For a phenotypic description and a discussion of genetic heterogeneity of psoriasis, see PSORS1 (177900).
Mapping
Zhang et al. (2002) performed a genomewide scan with 2-point and multipoint parametric and nonparametric linkage analyses in 61 multiplex Han families residing in east and southeast China, comprising 18... | PSORIASIS 9, SUSCEPTIBILITY TO | c1842897 | 4,846 | omim | https://www.omim.org/entry/607857 | 2019-09-22T16:08:39 | {"omim": ["607857"]} |
Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures.
## Epidemiology
The overall prevalence of OI is estimated at between 1/10,000 and 1/20,000 but the prevalenc... | Osteogenesis imperfecta type 1 | c0023931 | 4,847 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=216796 | 2021-01-23T18:26:57 | {"gard": ["8694"], "mesh": ["D010013"], "omim": ["166200", "166230"], "icd-10": ["Q78.0"], "synonyms": ["Adair-Dighton syndrome", "Mild osteogenesis imperfecta", "Non-deforming osteogenesis imperfecta", "OI type 1", "Van der Hoeve syndrome"]} |
A number sign (#) is used with this entry because hyperlipoproteinemia type III is caused by homozygous, compound heterozygous, or heterozygous mutation in the APOE gene (107741) on chromosome 19q13.
Description
Hyperlipoproteinemia type III, also called dysbetalipoproteinemia, is characterized by hyperlipidemia du... | HYPERLIPOPROTEINEMIA, TYPE III | c0020479 | 4,848 | omim | https://www.omim.org/entry/617347 | 2019-09-22T15:46:03 | {"doid": ["3145"], "mesh": ["D006952"], "omim": ["617347"], "orphanet": ["412"], "synonyms": ["Alternative titles", "APOLIPOPROTEIN E, DEFICIENCY OR DEFECT OF", "DYSBETALIPOPROTEINEMIA DUE TO DEFECT IN APOLIPOPROTEIN E-d", "FAMILIAL HYPERBETA- AND PREBETALIPOPROTEINEMIA", "FAMILIAL HYPERCHOLESTEROLEMIA WITH HYPERLIPEMI... |
Progressive nodular histiocytoma
SpecialtyDermatology
Progressive nodular histiocytoma is a cutaneous condition characterized by generalized, discrete yellow papules and nodules with prominent facial involvement.[1]
## See also[edit]
* Generalized eruptive histiocytoma
* List of cutaneous conditions
## ... | Progressive nodular histiocytoma | None | 4,849 | wikipedia | https://en.wikipedia.org/wiki/Progressive_nodular_histiocytoma | 2021-01-18T18:54:03 | {"wikidata": ["Q7248851"]} |
## Summary
### Clinical characteristics.
Oral-facial-digital syndrome type I (OFD1) is usually male lethal during gestation and predominantly affects females. OFD1 is characterized by the following features:
* Oral (lobulated tongue, tongue nodules, cleft of the hard or soft palate, accessory gingival frenul... | Oral-Facial-Digital Syndrome Type I | c1510460 | 4,850 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1188/ | 2021-01-18T21:06:30 | {"mesh": ["D009958"], "synonyms": ["OFD1", "Orofaciodigital Syndrome I"]} |
## Description
Microtia-anotia (M-A) can occur either as an isolated defect or in association with other defects. Only in a minority of cases has a genetic or environmental cause been found; in these cases, M-A is usually part of a specific pattern of multiple congenital anomalies. For instance, M-A is an essential... | MICROTIA-ANOTIA | c0702139 | 4,851 | omim | https://www.omim.org/entry/600674 | 2019-09-22T16:15:57 | {"mesh": ["D065817"], "omim": ["600674"], "orphanet": ["93976", "83463"]} |
Bronchorrhea is the production of more than 100 mL per day of watery sputum.[1] Chronic bronchitis is a common cause, but it may also be caused by asthma,[2] pulmonary contusion,[3] bronchiectasis, tuberculosis, cancer, scorpion stings, severe hypothermia and poisoning by organophosphates and other poisons. Massive b... | Bronchorrhea | c0235568 | 4,852 | wikipedia | https://en.wikipedia.org/wiki/Bronchorrhea | 2021-01-18T18:44:58 | {"umls": ["C0235568"], "wikidata": ["Q600754"]} |
Global Acute Malnutrition (GAM) is a measurement of the nutritional status of a population that is often used in protracted refugee situations. Along with the Crude Mortality Rate, it is one of the basic indicators for assessing the severity of a humanitarian crisis.[1]
## Contents
* 1 Definition
* 2 Interp... | Global Acute Malnutrition | None | 4,853 | wikipedia | https://en.wikipedia.org/wiki/Global_Acute_Malnutrition | 2021-01-18T18:46:55 | {"wikidata": ["Q17017329"]} |
A rare form of autoimmune bullous skin disease characterized by polyformative skin lesions, typically beginning on the oral mucus membranes, and generally associated with lymphoma or chronic lymphoid leukemia.
## Epidemiology
The prevalence of this form of pemphigus is unknown. About 500 cases of paraneoplastic pem... | Paraneoplastic pemphigus | c1112570 | 4,854 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=63455 | 2021-01-23T17:59:21 | {"umls": ["C1112570"], "icd-10": ["L10.8"]} |
A number sign (#) is used with this entry because of evidence that mitochondrial complex I deficiency nuclear type 5 (MC1DN5) is caused by homozygous or compound heterozygous mutation in the NDUFS1 gene (157655) on chromosome 2q33.
For a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see ... | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 | c2936907 | 4,855 | omim | https://www.omim.org/entry/618226 | 2019-09-22T15:43:03 | {"mesh": ["C537475"], "omim": ["618226"], "orphanet": ["2609", "255241"]} |
Pectus carinatum refers to a chest wall abnormality in which the breastbone is pushed outward. It generally presents during childhood and worsens through adolescence. If the condition occurs in isolation, it is often not associated with any additional signs or symptoms. Rarely, affected people report shortness of bre... | Pectus carinatum | c0158731 | 4,856 | gard | https://rarediseases.info.nih.gov/diseases/9656/pectus-carinatum | 2021-01-18T17:58:24 | {"mesh": ["D066166"], "umls": ["C0158731"], "synonyms": ["Carinatum deformity of the chest"]} |
## Clinical Features
Zubenko et al. (1987) and Zubenko and Teply (1988) concluded that increased platelet membrane fluidity is a stable, familial characteristic that affects approximately half of the first-degree relatives of persons with Alzheimer disease (104300). The index of membrane fluidity used in this work ... | PLATELET MEMBRANE FLUIDITY | c1868201 | 4,857 | omim | https://www.omim.org/entry/173560 | 2019-09-22T16:36:14 | {"omim": ["173560"]} |
Infectious tropical disease
Buruli ulcer
Other namesBairnsdale ulcer, Daintree ulcer, Mossman ulcer, Kumasi ulcer, Searls ulcer
Buruli ulcer lesions. Top-left, an early ulcer. Top-right, a larger ulcer across the lower arm and wrist. Bottom, a large ulcer on the thigh.
SpecialtyInfectious disease
SymptomsAre... | Buruli ulcer | c0085568 | 4,858 | wikipedia | https://en.wikipedia.org/wiki/Buruli_ulcer | 2021-01-18T18:47:37 | {"gard": ["9520"], "mesh": ["D054312"], "umls": ["C0085568"], "icd-9": ["031.1"], "wikidata": ["Q1017169"]} |
Marfan syndrome is a disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, a... | Marfan syndrome | c0024796 | 4,859 | gard | https://rarediseases.info.nih.gov/diseases/6975/marfan-syndrome | 2021-01-18T17:59:15 | {"mesh": ["D008382"], "omim": ["154700"], "orphanet": ["558"], "synonyms": ["Contractural arachnodactyly"]} |
Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.
## Epidemiology
It is mainly found in Italy and Finland where prevalence is 1/60,000.
## Clinical description
The metabolic disturbance in LPI causes increased renal excretion and red... | Lysinuric protein intolerance | c0268647 | 4,860 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=470 | 2021-01-23T17:31:12 | {"gard": ["3335"], "mesh": ["C562687"], "omim": ["222700"], "umls": ["C0268647"], "icd-10": ["E72.0"], "synonyms": ["Hyperdibasic aminoaciduria", "LPI"]} |
A number sign (#) is used with this entry because hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase can be caused by compound heterozygous mutation in the AHCY gene (180960) on chromosome 20q11.
Clinical Features
In 3 daughters of Tunisian parents who were not known to be related but came from ... | HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY | c3151058 | 4,861 | omim | https://www.omim.org/entry/613752 | 2019-09-22T15:57:47 | {"doid": ["0111039"], "mesh": ["C564683"], "omim": ["613752"], "orphanet": ["88618"]} |
A number sign (#) is used with this entry because pseudohypoaldosteronism type IIB (PHA2B) is caused by heterozygous mutation in the WNK4 gene (601844) on chromosome 17q21.
For a phenotypic description and a discussion of genetic heterogeneity of pseudohypoaldosteronism type II, see PHA2A (145260).
Clinical Feature... | PSEUDOHYPOALDOSTERONISM, TYPE IIB | c1449844 | 4,862 | omim | https://www.omim.org/entry/614491 | 2019-09-22T15:55:06 | {"mesh": ["D011546"], "omim": ["614491"], "orphanet": ["757", "88939"], "genereviews": ["NBK65707"]} |
Sussman et al. (1970) described a 28-year-old woman with chronically elevated lactic and pyruvic acids and increased lactate-to-pyruvate ratio. Alcohol ingestion and moderate exercise increased lactate levels. As in glycogen storage disease, hyperuricemia was present and uric acid clearance was apparently depressed. ... | LACTIC ACIDOSIS, CHRONIC ADULT FORM | c1835591 | 4,863 | omim | https://www.omim.org/entry/150170 | 2019-09-22T16:39:06 | {"mesh": ["C563640"], "omim": ["150170"]} |
Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related... | Pyruvate dehydrogenase deficiency | c0034345 | 4,864 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=765 | 2021-01-23T17:19:53 | {"gard": ["7513"], "mesh": ["C536257", "D015325"], "omim": ["245348", "245349", "246900", "312170", "608782", "614111"], "umls": ["C0034345", "C2936911"], "icd-10": ["E74.4"], "synonyms": ["PDH", "PDHC", "Pyruvate dehydrogenase complex deficiency"]} |
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Find sources: "Skin infection" – news · newspapers · books · scholar · JSTOR (September 2019) (Learn how and when to remove this templ... | Skin infection | c0037278 | 4,865 | wikipedia | https://en.wikipedia.org/wiki/Skin_infection | 2021-01-18T18:28:50 | {"mesh": ["D012874"], "umls": ["C0037278"], "wikidata": ["Q2458539"]} |
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies.... | Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations | c1838457 | 4,866 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=319462 | 2021-01-23T17:45:43 | {"mesh": ["C563980"], "omim": ["605724"]} |
A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-81 (RP81) is caused by homozygous mutation in the IFT43 gene (614068) on chromosome 14q24. One such family has been reported.
For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa,... | RETINITIS PIGMENTOSA 81 | c4693443 | 4,867 | omim | https://www.omim.org/entry/617871 | 2019-09-22T15:44:40 | {"omim": ["617871"]} |
A chronic monophasic, progressive or relapsing symmetric sensorimotor disorder characterized by progressive muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins.
## Epidemiology
Prevalence is about 1/200,000 children and 1-7/100,000 adults, ... | Chronic inflammatory demyelinating polyneuropathy | c0393819 | 4,868 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2932 | 2021-01-23T17:51:39 | {"gard": ["6102"], "mesh": ["D020277"], "umls": ["C0393819"], "icd-10": ["G61.8"], "synonyms": ["CIDP", "Chronic inflammatory demyelinating polyradiculoneuropathy"]} |
## Summary
### Clinical characteristics.
Hartsfield syndrome comprises two core features: holoprosencephaly (HPE) spectrum disorders and ectrodactyly spectrum disorders.
* HPE spectrum disorders, resulting from failed or incomplete forebrain division early in gestation, include alobar, semilobar, or lobar HPE. O... | Hartsfield Syndrome | c1845146 | 4,869 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK349073/ | 2021-01-18T21:22:08 | {"mesh": ["C564484"], "synonyms": []} |
Human disease
Cyanide poisoning
Other namesCyanide toxicity, hydrocyanic acid poisoning[1]
Cyanide ion
SpecialtyToxicology, critical care medicine
SymptomsEarly: headache, dizziness, fast heart rate, shortness of breath, vomiting[2]
Later: seizures, slow heart rate, low blood pressure, loss of consciousnes... | Cyanide poisoning | c0238080 | 4,870 | wikipedia | https://en.wikipedia.org/wiki/Cyanide_poisoning | 2021-01-18T18:46:36 | {"icd-9": ["989.0"], "icd-10": ["T65.0"], "orphanet": ["466670"], "synonyms": [], "wikidata": ["Q883082"]} |
X-linked leukodystrophy
Pelizaeus–Merzbacher disease
Pelizaeus–Merzbacher disease is inherited in an x-linked recessive manner[1]
SpecialtyNeurology
Pelizaeus–Merzbacher disease is an X-linked neurological disorder that damages oligodendrocytes in the central nervous system. It is caused by mutations in... | Pelizaeus–Merzbacher disease | c0205711 | 4,871 | wikipedia | https://en.wikipedia.org/wiki/Pelizaeus%E2%80%93Merzbacher_disease | 2021-01-18T18:55:21 | {"gard": ["4265"], "mesh": ["D020371"], "umls": ["C0205711"], "icd-9": ["330.0"], "orphanet": ["702"], "wikidata": ["Q1876206"]} |
Benign partial epilepsy of infancy with complex partial seizures is a rare infantile epilepsy syndrome characterized by complex partial seizures presenting with motion arrest, decreased responsiveness, staring, automatisms and mild clonic movements, with or without apneas, normal interictal EEG and focal, mostly ... | Benign partial epilepsy of infancy with complex partial seizures | None | 4,872 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=166299 | 2021-01-23T19:01:51 | {"icd-10": ["G40.2"]} |
Ramsay Hunt syndrome
Other namesFacial nerve palsy due to herpes zoster infection
SpecialtyNeurology
Three different neurological syndromes carry the name of Ramsay Hunt syndrome. Their only connection is that they were all first described by the famous neurologist James Ramsay Hunt (1872–1937).
* Ramsay ... | Ramsay Hunt syndrome | c0017409 | 4,873 | wikipedia | https://en.wikipedia.org/wiki/Ramsay_Hunt_syndrome | 2021-01-18T19:08:00 | {"mesh": ["D016697"], "wikidata": ["Q2697371"]} |
Infant respiratory distress syndrome
Other namesNeonatal respiratory distress syndrome [1]
Chest X-ray of a case of IRDS, with fine granular opacities, air bronchograms and bell-shaped thorax
SpecialtyPediatrics, obstetrics
Infantile respiratory distress syndrome (IRDS), also called respiratory distres... | Infant respiratory distress syndrome | c0020192 | 4,874 | wikipedia | https://en.wikipedia.org/wiki/Infant_respiratory_distress_syndrome | 2021-01-18T18:48:43 | {"gard": ["112"], "mesh": ["D006819"], "umls": ["C0020192"], "icd-9": ["769"], "orphanet": ["70587"], "wikidata": ["Q754348"]} |
A number sign (#) is used with this entry because of evidence that atrial septal defect of the secundum type, with or without atrioventricular conduction defects, is caused by heterozygous mutation in the NKX2-5 gene (600584) on chromosome 5q35.
For a discussion of genetic heterogeneity of atrial septal defect, ... | ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS | c3502353 | 4,875 | omim | https://www.omim.org/entry/108900 | 2019-09-22T16:44:38 | {"doid": ["0110112"], "mesh": ["C566238"], "omim": ["108900"], "orphanet": ["1479"], "synonyms": ["Alternative titles", "ASD WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS"]} |
A number sign (#) is used with this entry because of evidence that Diamond-Blackfan anemia-17 (DBA17) is caused by heterozygous mutation in the RPS27 gene (603702) on chromosome 1q21. One such patient has been reported.
For a general phenotypic description and discussion of genetic heterogeneity of Diamond-Blackfan ... | DIAMOND-BLACKFAN ANEMIA 17 | c1260899 | 4,876 | omim | https://www.omim.org/entry/617409 | 2019-09-22T15:45:51 | {"mesh": ["D029503"], "omim": ["617409"], "orphanet": ["124"]} |
## Summary
### Clinical characteristics.
POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined long before their molecular basis was known. Most affected individuals have some, but not all, of the features of a given phenotype; nonetheless, the following nomenclature can... | POLG-Related Disorders | None | 4,877 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK26471/ | 2021-01-18T21:05:20 | {"synonyms": []} |
Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS (see this term), a type of ichthyosis (see this term), characterized by generalized white scaling and superficial painless peeling of the skin.
## Epidemiology
The prevalence is unknown. The disease is rare with approximately 40 famili... | Peeling skin syndrome type A | c4015729 | 4,878 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=263548 | 2021-01-23T18:54:39 | {"omim": ["616265", "618084"], "icd-10": ["Q80.8"], "synonyms": ["Generalized deciduous skin type A", "Generalized peeling skin syndrome type A", "Non-inflammatory generalized peeling skin syndrome type A.", "Non-inflammatory peeling skin syndrome type A", "PSS type A"]} |
X-linked central congenital hypothyroidism with late-onset testicular enlargement is a rare, genetic, endocrine disease characterized by central hypothyroidism, testis enlargement in adolescence resulting in adult macroorchidism, delayed pubertal testosterone rise with a subsequent delayed pubertal growth spurt, smal... | X-linked central congenital hypothyroidism with late-onset testicular enlargement | c3550963 | 4,879 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=329235 | 2021-01-23T18:09:22 | {"omim": ["300888"], "icd-10": ["E03.1"], "synonyms": ["IGSF1 deficiency syndrome", "X-linked central congenital hypothyroidism with late-onset macroorchidism"]} |
A number sign (#) is used with this entry because LW blood group antigens reside on a protein encoded by the ICAM4 gene (614088) on chromosome 19p13.
Description
The LW blood group antigens reside on a 42-kD red cell intercellular adhesion molecule designated ICAM4 (Bailly et al., 1994; Bailly et al., 1995).
Mappi... | BLOOD GROUP SYSTEM, LANDSTEINER-WIENER | None | 4,880 | omim | https://www.omim.org/entry/111250 | 2019-09-22T16:44:25 | {"omim": ["111250"], "synonyms": ["Alternative titles", "LANDSTEINER-WIENER BLOOD GROUP SYSTEM"]} |
Pogosta disease
Other namesKarelian fever, Ockelbo disease
SpecialtyInfectious disease
Pogosta disease is a viral disease.[1][2] The symptoms of the disease include usually rash, as well as mild fever and other flu-like symptoms; in most cases the symptoms last less than 5 days. However, in some cases, the p... | Pogosta disease | c0343597 | 4,881 | wikipedia | https://en.wikipedia.org/wiki/Pogosta_disease | 2021-01-18T18:29:29 | {"icd-10": ["A92.8"], "wikidata": ["Q4346007"]} |
Infantile neuroaxonal dystrophy is a type of lipid storage disorder that mostly affects the nervous system. It has two forms, a classic form and an atypical form. The classic form is usually diagnosed in infancy or early childhood and leads to a progressive loss of vision and developmental milestones. The atypica... | Infantile neuroaxonal dystrophy | c0270724 | 4,882 | gard | https://rarediseases.info.nih.gov/diseases/3957/infantile-neuroaxonal-dystrophy | 2021-01-18T17:59:47 | {"mesh": ["D019150"], "omim": ["256600", "610217"], "umls": ["C0270724"], "orphanet": ["35069"], "synonyms": ["Seitelberger disease", "INAD", "Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy", "Neurodegeneration with brain iron accumulation 2B ", "NEUROAXONAL DYSTROPHY, ATYPICAL", "KARAK SYNDROME, INCLUD... |
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Find sources: "Sertoli–Leydig cell tumour" – news · newspapers · books · scholar · JSTOR (August 2019) (Learn how and when to remove t... | Sertoli–Leydig cell tumour | None | 4,883 | wikipedia | https://en.wikipedia.org/wiki/Sertoli%E2%80%93Leydig_cell_tumour | 2021-01-18T19:02:16 | {"icd-9": ["256.1", "183.0"], "wikidata": ["Q586009"]} |
Hematopoietic ulcers are those occurring with sickle cell anemia, congenital hemolytic anemia, polycythemia vera, thrombocytopenic purpura, macroglobulinemia, and cryoglobulinemia.[1]:847
## See also[edit]
* Skin lesion
## References[edit]
1. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews... | Hematopoietic ulcer | None | 4,884 | wikipedia | https://en.wikipedia.org/wiki/Hematopoietic_ulcer | 2021-01-18T19:00:09 | {"wikidata": ["Q5711181"]} |
Aberrant subclavian artery
Aberrant subclavian artery on MR angiography.
Scrollable version is available.
SpecialtyMedical genetics
Aberrant subclavian artery, or aberrant subclavian artery syndrome, is a rare anatomical variant of the origin of the right or left subclavian artery. This abnormality i... | Aberrant subclavian artery | c0431498 | 4,885 | wikipedia | https://en.wikipedia.org/wiki/Aberrant_subclavian_artery | 2021-01-18T18:59:55 | {"gard": ["5706"], "mesh": ["C535555"], "icd-9": ["747.21"], "icd-10": ["Q27.8"], "wikidata": ["Q446822"]} |
Achondrogenesis is a group of severe disorders that are present from birth and affect the development of cartilage and bone. Infants with achondrogenesis usually have a small body, extremely short arms and legs, other skeletal abnormalities, and underdeveloped lungs. There are at least three forms of achondrogene... | Achondrogenesis | c0001079 | 4,886 | gard | https://rarediseases.info.nih.gov/diseases/2882/achondrogenesis | 2021-01-18T18:02:22 | {"mesh": ["C579878"], "omim": ["200600", "600972", "200610"], "umls": ["C0001079"], "orphanet": ["932"], "synonyms": []} |
A number sign (#) is used with this entry because neuronal ceroid lipofuscinosis-8 (CLN8) is caused by homozygous or compound heterozygous mutation in the CLN8 gene (607837) on chromosome 8p23.
See also the Northern epilepsy variant of CLN8 (610003), an allelic disorder with a different phenotype.
Description
The ... | CEROID LIPOFUSCINOSIS, NEURONAL, 8 | c0022340 | 4,887 | omim | https://www.omim.org/entry/600143 | 2019-09-22T16:16:33 | {"doid": ["0110723"], "mesh": ["D009472"], "omim": ["600143"], "orphanet": ["168491", "228354", "79264"]} |
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed.
Find sources: "Pelvic tumor" – news · newspapers · books ... | Pelvic tumor | c0030793 | 4,888 | wikipedia | https://en.wikipedia.org/wiki/Pelvic_tumor | 2021-01-18T18:31:15 | {"mesh": ["D010386"], "wikidata": ["Q7161811"]} |
GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.
## Epidemiology
Type 3 is a less frequent form of GM1 gangliosidosis compared to infantile type 1 disease but the exact p... | GM1 gangliosidosis type 3 | c0268273 | 4,889 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79257 | 2021-01-23T18:11:49 | {"gard": ["2431"], "mesh": ["D016537"], "omim": ["230650"], "umls": ["C0268273"], "icd-10": ["E75.1"], "synonyms": ["Adult-onset GM1 gangliosidosis"]} |
A number sign (#) is used with this entry because familial isolated hypoparathyroidism can be caused by mutation in the parathyroid hormone gene (PTH; 168450), or in the GCM2 gene (603716), a homolog of the Drosophila glial cells missing gene.
There is also an X-linked form of hypoparathyroidism (307700).
Descripti... | HYPOPARATHYROIDISM, FAMILIAL ISOLATED | c1832648 | 4,890 | omim | https://www.omim.org/entry/146200 | 2019-09-22T16:39:50 | {"doid": ["11199"], "mesh": ["C537156"], "omim": ["146200"], "orphanet": ["189466", "2238", "2239"], "synonyms": ["Alternative titles", "HYPOPARATHYROIDISM, AUTOSOMAL DOMINANT"]} |
This article needs to be updated. Please update this article to reflect recent events or newly available information. (March 2020)
Inherited neurodegenerative disorder
Huntington's disease
Other namesHuntington's chorea
An edited microscopic image of a medium spiny neuron (yellow) with an inclusion body (or... | Huntington's disease | c0020179 | 4,891 | wikipedia | https://en.wikipedia.org/wiki/Huntington%27s_disease | 2021-01-18T18:45:08 | {"gard": ["6677"], "mesh": ["D006816"], "umls": ["C0020179"], "icd-9": ["333.4333.4,294.1294.1"], "icd-10": ["F02.2", "G10"], "orphanet": ["399", "248111"], "wikidata": ["Q190564"]} |
Damage caused to the lung by mechanical ventilation
Atelectasis occurs when distending pressure of the alveolus is overcome by surface tension of fluid within the alveolus. Repeated atelectasis and re-inflation leads to atelectotrauma.
Atelectotrauma, atelectrauma, cyclic atelectasis or repeated alveolar collap... | Atelectotrauma | None | 4,892 | wikipedia | https://en.wikipedia.org/wiki/Atelectotrauma | 2021-01-18T18:51:37 | {"wikidata": ["Q48844417"]} |
Congenital absence of thigh and lower leg with foot present is a rare, non-syndromic, intercalary limb reduction defect characterized by unilateral or bilateral absence of femoral and tibio-fibular components, with the presence of intact foot elements.
*[v]: View this template
*[t]: Discuss this template
*... | Congenital absence of thigh and lower leg with foot present | c0265626 | 4,893 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=294977 | 2021-01-23T18:32:11 | {"icd-10": ["Q72.1"], "synonyms": ["Femorotibiofibular intercalary transverse meromelia"]} |
For a general phenotypic description and a discussion of genetic heterogeneity of Wilms tumor, see WT1 (194070).
Mapping
With loss of heterozygosity studies, Maw et al. (1992) concluded that a third Wilms tumor locus (WT3) is on 16q. In addition to loss on chromosome 11p (11 of 25 informative Wilms tumors), there w... | WILMS TUMOR 3 | c0027708 | 4,894 | omim | https://www.omim.org/entry/194090 | 2019-09-22T16:31:45 | {"mesh": ["D009396"], "omim": ["194090"], "orphanet": ["654"], "genereviews": ["NBK1294"]} |
Juvenile dermatomyositis (JDM) is the early-onset form of dermatomyositis (DM, see this term), a systemic, autoimmune inflammatory muscle disorder, characterized by proximal muscle weakness, evocative skin lesion, and systemic manifestations.
## Epidemiology
The exact prevalence of JDM is not known. Estimated annua... | Juvenile dermatomyositis | c0263666 | 4,895 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93672 | 2021-01-23T18:22:50 | {"gard": ["6805"], "mesh": ["D003882", "C538250"], "umls": ["C0263666", "C2931785"], "icd-10": ["M33.0"], "synonyms": ["Juvenile DM"]} |
Hereditary spastic paraplegia
SpecialtyNeurology
Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive gait disorder. The disease presents with progressive stiffness (spasticity) and contraction in the lower limbs.[1] HSP is also known as hereditary spastic pa... | Hereditary spastic paraplegia | c2931355 | 4,896 | wikipedia | https://en.wikipedia.org/wiki/Hereditary_spastic_paraplegia | 2021-01-18T18:43:06 | {"gard": ["6637"], "mesh": ["D015419", "C536864"], "umls": ["C2931355"], "orphanet": ["685"], "wikidata": ["Q657516"]} |
Inflammatory process affecting the mediastinum
Mediastinitis
Mediastinum
SpecialtyPulmonology
Mediastinitis is inflammation of the tissues in the mid-chest, or mediastinum. It can be either acute or chronic. It is thought to be due to four different etiologies:[1]
* direct contamination
* hematogen... | Mediastinitis | c0025064 | 4,897 | wikipedia | https://en.wikipedia.org/wiki/Mediastinitis | 2021-01-18T18:38:58 | {"mesh": ["D008480"], "umls": ["C0025064"], "wikidata": ["Q1581845"]} |
Serum sickness
SpecialtyHematology
Serum sickness in humans is a reaction to proteins in antiserum derived from a non-human animal source, occurring 5–10 days after exposure. It is a type of hypersensitivity, specifically immune complex hypersensitivity (type III). The term serum sickness–like reaction (SS... | Serum sickness | c0036830 | 4,898 | wikipedia | https://en.wikipedia.org/wiki/Serum_sickness | 2021-01-18T18:55:28 | {"mesh": ["D012713"], "icd-9": ["999.5"], "icd-10": ["T80.6"], "wikidata": ["Q33121"]} |
Deafness-craniofacial syndrome is characterised by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared... | Deafness-craniofacial syndrome | c1852278 | 4,899 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3241 | 2021-01-23T19:03:08 | {"gard": ["1686"], "mesh": ["C565118"], "omim": ["125230"], "umls": ["C1852278"], "icd-10": ["Q87.0"], "synonyms": ["Hearing loss-craniofacial syndrome"]} |
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