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Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a neurological condition that causes muscle weakness and wasting (atrophy) and a combination of seizures and uncontrollable muscle jerks (myoclonic epilepsy).
In individuals with SMA-PME, spinal muscular atrophy results from a loss of speci... | Spinal muscular atrophy with progressive myoclonic epilepsy | c1834569 | 1,700 | medlineplus | https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy-with-progressive-myoclonic-epilepsy/ | 2021-01-27T08:25:29 | {"gard": ["3875"], "mesh": ["C537563"], "omim": ["159950"], "synonyms": []} |
Lip licker's dermatitis
Other namesIrritant contact cheilitis, perioral irritant contact dermatitis, perioral dermatitis
Lip licker's dermatitis from a child repeatedly licking lips
CausesRepeated lip licking
Diagnostic methodBased on symptoms
Differential diagnosisPerioral dermatitis
MedicationEmollient ... | Lip licker's dermatitis | None | 1,701 | wikipedia | https://en.wikipedia.org/wiki/Lip_licker%27s_dermatitis | 2021-01-18T19:04:53 | {"wikidata": ["Q48988826"]} |
Asterixis
Other namesFlapping tremor, liver flap
SpecialtyNeurology
Asterixis is a tremor of the hand when the wrist is extended, sometimes said to resemble a bird flapping its wings. This motor disorder is characterized by an inability to maintain a position, which is demonstrated by jerking movements of th... | Asterixis | c0232766 | 1,702 | wikipedia | https://en.wikipedia.org/wiki/Asterixis | 2021-01-18T18:51:37 | {"mesh": ["D020820"], "icd-9": ["781.3"], "icd-10": ["R27.8"], "wikidata": ["Q748444"]} |
A number sign (#) is used with this entry because of evidence that cardiomyopathy of the dilated (CMD1KK), hypertrophic (CMH22), or restrictive (RCM4) type can be caused by heterozygous mutation in the myopalladin gene (MYPN; 608517) on chromosome 10q21.
For a general phenotypic description and a discussion of g... | CARDIOMYOPATHY, DILATED, 1KK | c0340427 | 1,703 | omim | https://www.omim.org/entry/615248 | 2019-09-22T15:52:45 | {"doid": ["0110445"], "mesh": ["C536231"], "omim": ["615248"], "icd-10": ["I42.5"], "orphanet": ["75249", "154"], "synonyms": ["Familial or idiopathic restrictive cardiomyopathy"]} |
A rare, genetic, neonatal epilepsy syndrome disease characterized by onset in the first 6 months of life of almost continuous migrating polymorphous focal seizures with corresponding multifocal ictal electroencephalographic discharges, progressive deterioration of psychomotor development, and usually early mortality.... | Malignant migrating focal seizures of infancy | c3150988 | 1,704 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=293181 | 2021-01-23T18:41:17 | {"gard": ["12919"], "omim": ["613722", "614959", "615338", "616645"], "synonyms": ["Epilepsy of infancy with migrating focal seizures", "MMPEI", "MMPSI", "MPEI", "MPSI", "Malignant migrating partial epilepsy of infancy", "Malignant migrating partial seizures of infancy", "Migrating partial epilepsy of infancy", "Migrat... |
## Clinical Features
Peiffer et al. (1999) reported a large consanguineous family in which 6 children had congenital primary microcephaly, severe mental retardation, and seizures. Variable features included hyperreflexia, mild spasticity, and cortical blindness. Neuroradiologic studies documented microcephaly and a... | MICROCEPHALY WITH SIMPLIFIED GYRAL PATTERN | c3711387 | 1,705 | omim | https://www.omim.org/entry/603802 | 2019-09-22T16:12:42 | {"mesh": ["C579935"], "omim": ["603802"], "orphanet": ["2512"]} |
A number sign (#) is used with this entry because of evidence that external ophthalmoplegia with rib and vertebral anomalies (EORVA) is caused by homozygous mutation in the MYF5 gene (159990) on chromosome 12q21.
Description
External ophthalmoplegia with rib and vertebral anomalies is characterized by congenital no... | OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES | None | 1,706 | omim | https://www.omim.org/entry/618155 | 2019-09-22T15:43:21 | {"omim": ["618155"]} |
Polycystic liver disease
Micrograph showing a von Meyenburg complex, a bile duct hamartoma associated with polycystic liver disease. Trichrome stain.
SpecialtyMedical genetics
Polycystic liver disease (PLD) usually describes the presence of multiple cysts scattered throughout normal liver tissue.[1] PLD is c... | Polycystic liver disease | c0158683 | 1,707 | wikipedia | https://en.wikipedia.org/wiki/Polycystic_liver_disease | 2021-01-18T19:05:27 | {"gard": ["9457"], "mesh": ["C536330"], "umls": ["C0158683"], "icd-10": ["Q44.6"], "orphanet": ["2924"], "wikidata": ["Q246002"]} |
A multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal a... | Short stature-wormian bones-dextrocardia syndrome | c1861448 | 1,708 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2863 | 2021-01-23T17:07:06 | {"gard": ["4856"], "mesh": ["C566105"], "omim": ["185120"], "umls": ["C1861448"], "icd-10": ["Q87.1"], "synonyms": ["Stratton-Parker syndrome"]} |
A rare hemophagocytic syndrome characterized by excessive activation and proliferation of macrophages and T cells occurring in the context of a variety of diseases, including infections, neoplasms, rheumatic disorders, and leading to sudden onset of persistent fever, lymphadenopathy, and hepatosplenomegaly. Complicat... | Macrophage activation syndrome | c1096155 | 1,709 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=158061 | 2021-01-23T18:28:38 | {"gard": ["12124"], "mesh": ["D055501"], "umls": ["C1096155"]} |
A number sign (#) is used with this entry because of evidence that trichohepatoneurodevelopmental syndrome (THNS) is caused by homozygous or compound heterozygous mutation in the CCDC47 gene (618260) on chromosome 17q23.
Description
Trichohepatoneurodevelopmental syndrome is a complex multisystem disorder character... | TRICHOHEPATONEURODEVELOPMENTAL SYNDROME | None | 1,710 | omim | https://www.omim.org/entry/618268 | 2019-09-22T15:42:46 | {"omim": ["618268"]} |
A number sign (#) is used with this entry because of evidence that keratoconus-1 (KTCN1) is caused by heterozygous mutation in the VSX1 gene (605020) on chromosome 20p11.
Description
Keratoconus, the most common corneal dystrophy, is a bilateral, noninflammatory progressive corneal ectasia. Clinically, the cornea b... | KERATOCONUS 1 | c1835677 | 1,711 | omim | https://www.omim.org/entry/148300 | 2019-09-22T16:39:20 | {"mesh": ["C563649"], "omim": ["148300"]} |
## Summary
### Clinical characteristics.
Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of af... | Retinoblastoma | c0035335 | 1,712 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1452/ | 2021-01-18T21:00:10 | {"mesh": ["D012175"], "synonyms": []} |
Primary central nervous system lymphoma (primary CNS lymphoma) is a rare form of non-Hodgkin lymphoma in which cancerous cells develop in the lymph tissue of the brain and/or spinal cord. Because the eye is so close to the brain, primary CNS lymphoma can also start in the eye (called ocular lymphoma). The signs and s... | Primary central nervous system lymphoma | c0280803 | 1,713 | gard | https://rarediseases.info.nih.gov/diseases/9318/primary-central-nervous-system-lymphoma | 2021-01-18T17:58:11 | {"umls": ["C0280803"], "orphanet": ["46135"], "synonyms": ["Primary lymphoma, CNS", "PCNSL", "Primary brain lymphoma", "Primary CNS lymphoma"]} |
Connolly et al. (1979) stated that urinary taurine excretion values show three modes in normals, consistent with a polymorphic codominant 2-allele system regulating renal reabsorption. They estimated frequencies of 0.35 and 0.65 for the high and low reabsorption, respectively. Beta-alanine competitively inhibits reab... | BETA-AMINO ACIDS, RENAL TRANSPORT OF | c1862289 | 1,714 | omim | https://www.omim.org/entry/109660 | 2019-09-22T16:44:27 | {"omim": ["109660"], "synonyms": ["Alternative titles", "TAURINE RENAL REABSORPTION"]} |
For the alternative medicine practice similar to homeopathy, see tautopathy.
Tauopathy
Diagram of a normal microtubule and one affected by tauopathy
SpecialtyNeurology
Tauopathy belongs to a class of neurodegenerative diseases involving the aggregation of tau protein into neurofibrillary or gliofibrillary t... | Tauopathy | c0949664 | 1,715 | wikipedia | https://en.wikipedia.org/wiki/Tauopathy | 2021-01-18T19:00:08 | {"mesh": ["D024801"], "umls": ["C0949664"], "orphanet": ["98527"], "wikidata": ["Q2397106"]} |
A number sign (#) is used with this entry because spastic paraplegia-7 is caused by homozygous or compound heterozygous mutation in the paraplegin gene (SPG7; 602783) on chromosome 16q24. Some patients with the disorder carry heterozygous SPG7 mutations.
Description
Hereditary spastic paraplegia (SPG) is charac... | SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE | c1846564 | 1,716 | omim | https://www.omim.org/entry/607259 | 2019-09-22T16:09:29 | {"doid": ["0110816"], "mesh": ["C564599"], "omim": ["607259"], "orphanet": ["99013"], "genereviews": ["NBK1107"]} |
Palmoplantar keratoderma (PPK) is a group of skin conditions characterized by thickening of the skin on the palms of the hands and soles of the feet. PPK can also be a feature of various underlying syndromes. In rare forms of PPK, organs other than the skin may also be affected. PPK can be either acquired during the ... | Palmoplantar keratoderma | c0022596 | 1,717 | gard | https://rarediseases.info.nih.gov/diseases/8167/palmoplantar-keratoderma | 2021-01-18T17:58:28 | {"umls": ["C0022596"], "synonyms": ["Keratoderma, Palmoplantar"]} |
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (October 2016)
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourc... | Eruptive hypomelanosis | None | 1,718 | wikipedia | https://en.wikipedia.org/wiki/Eruptive_hypomelanosis | 2021-01-18T18:45:57 | {"wikidata": ["Q24882796"]} |
A number sign (#) is used with this entry because cranioectodermal dysplasia-3 (CED3) is caused by homozygous mutation in the IFT43 gene (614068) on chromosome 14q24. One such family has been reported.
Description
Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recess... | CRANIOECTODERMAL DYSPLASIA 3 | c0432235 | 1,719 | omim | https://www.omim.org/entry/614099 | 2019-09-22T15:56:29 | {"doid": ["0080033"], "mesh": ["C562966"], "omim": ["614099"], "orphanet": ["1515"], "genereviews": ["NBK154653"]} |
A rare chromosomal disorder, characterized by childhood onset drug resistant epilepsy with typical electroencephalographic findings (EEG), mild to severe intellectual disability and behavioral problems.
## Epidemiology
The overall birth prevalence of ring chromosomes is 1/30-60,000 and ring 20 (r20) is one of the m... | Ring chromosome 20 syndrome | c0265482 | 1,720 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1444 | 2021-01-23T17:10:21 | {"gard": ["1334"], "mesh": ["C580424", "C535369"], "umls": ["C0265482", "C2930886"], "icd-10": ["Q93.2"], "synonyms": ["Ring 20", "Ring chromosome 20"]} |
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Some of this article's listed sources may not be reliable. Please help this article by looking for better, more reliable sources. Unreliable citations may be chall... | Ergophobia | None | 1,721 | wikipedia | https://en.wikipedia.org/wiki/Ergophobia | 2021-01-18T18:53:02 | {"wikidata": ["Q2724163"]} |
Chromhidrosis
Other namesColored sweat[1]
SpecialtyDermatology
This article includes a list of general references, but it remains largely unverified because it lacks sufficient corresponding inline citations. Please help to improve this article by introducing more precise citations. (March 2011) (Learn how a... | Chromhidrosis | c0263473 | 1,722 | wikipedia | https://en.wikipedia.org/wiki/Chromhidrosis | 2021-01-18T19:08:05 | {"gard": ["10749"], "umls": ["C0263473"], "icd-9": ["705.89"], "icd-10": ["L75.1"], "wikidata": ["Q2966706"]} |
## Summary
### Clinical characteristics.
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is characterized by clusters of nocturnal motor seizures, which are often stereotyped and brief (5 seconds to 5 minutes). They vary from simple arousals from sleep to dramatic, often bizarre hyperkinetic events ... | Autosomal Dominant Nocturnal Frontal Lobe Epilepsy | c3696898 | 1,723 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1169/ | 2021-01-18T21:41:33 | {"mesh": ["C579932"], "synonyms": ["ADNFLE"]} |
A number sign (#) is used with this entry because of evidence that glomuvenous malformations are caused by heterozygous mutation in the glomulin gene (601749) on chromosome 1p22.
Description
Glomuvenous malformations, also known as 'venous malformations with glomus cells' or glomangiomas, are similar to mucocutaneo... | GLOMUVENOUS MALFORMATIONS | c1841984 | 1,724 | omim | https://www.omim.org/entry/138000 | 2019-09-22T16:40:41 | {"mesh": ["C536827"], "omim": ["138000"], "orphanet": ["83454"], "synonyms": ["Alternative titles", "VENOUS MALFORMATIONS WITH GLOMUS CELLS", "GLOMUS TUMORS, MULTIPLE", "GLOMANGIOMAS, MULTIPLE"]} |
Flexion teardrop fracture
Teardrop fracture of the cervical spine before and after treatment with metal fixation
SpecialtyOrthopedic
A flexion teardrop fracture is a fracture of the anteroinferior aspect of a cervical vertebral body due to flexion of the spine along with vertical axial compression.[1] The fr... | Flexion teardrop fracture | None | 1,725 | wikipedia | https://en.wikipedia.org/wiki/Flexion_teardrop_fracture | 2021-01-18T18:47:58 | {"umls": ["CL379836"], "wikidata": ["Q5459010"]} |
Atrioventricular block
SpecialtyCardiology
Atrioventricular block (AV block) is a type of heart block that occurs when the electrical signal traveling from the atria, or the upper chambers of the heart, to ventricles, or the lower chambers of the heart, is impaired. Normally, the sinoatrial node (SA node) ... | Atrioventricular block | c0004245 | 1,726 | wikipedia | https://en.wikipedia.org/wiki/Atrioventricular_block | 2021-01-18T18:32:24 | {"mesh": ["D054537"], "umls": ["C0004245", "C1841659"], "wikidata": ["Q300121"]} |
Flea-borne spotted fever
SpecialtyInfectious disease
Flea-borne spotted fever or California pseudotyphus[1] is a condition characterized by a rash of maculopapules or furuncles.[2]
It is caused by Rickettsia felis.[3]
## See also[edit]
* American tick bite fever
* Japanese spotted fever
* List of ... | Flea-borne spotted fever | None | 1,727 | wikipedia | https://en.wikipedia.org/wiki/Flea-borne_spotted_fever | 2021-01-18T18:59:51 | {"icd-10": ["A77.8"], "orphanet": ["83316"], "synonyms": [], "wikidata": ["Q5458307"]} |
Luxating patella
Other namesTrick knee, subluxation of patella, floating patella, floating kneecap
Patellar luxation on radiograph: Left before, right after reduction; after reduction, the patella is still displaced.
SpecialtyOrthopedics
A luxating patella, sometimes called a trick knee, is a condition... | Luxating patella | None | 1,728 | wikipedia | https://en.wikipedia.org/wiki/Luxating_patella | 2021-01-18T18:46:47 | {"icd-9": ["836.3", "836.4"], "icd-10": ["M22.1"], "wikidata": ["Q381444"]} |
A number sign (#) is used with this entry because of evidence that anencephaly (ANPH) is caused by homozygous mutation in the TRIM36 gene (609317) on chromosome 5q22. One such patient has been reported.
Description
Anencephaly is characterized by the absence of cranial vault and brain tissues in the fetus. It i... | ANENCEPHALY | c0002902 | 1,729 | omim | https://www.omim.org/entry/206500 | 2019-09-22T16:31:06 | {"doid": ["0060668"], "mesh": ["D000757"], "omim": ["206500"], "icd-9": ["740.0"], "icd-10": ["Q00.0"], "orphanet": ["1048"], "synonyms": []} |
A number sign (#) is used with this entry because corticosterone methyloxidase type I deficiency (CMO I deficiency) is caused by mutation in the CYP11B2 gene (124080).
Description
CMO type I deficiency is an autosomal recessive disorder caused by a defect in the penultimate biochemical step of aldosterone biosynthe... | CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY | c0268293 | 1,730 | omim | https://www.omim.org/entry/203400 | 2019-09-22T16:31:24 | {"mesh": ["C537806"], "omim": ["203400"], "orphanet": ["427"], "synonyms": ["18-HYDROXYLASE DEFICIENCY", "Alternative titles", "ALDOSTERONE DEFICIENCY I", "CMO I DEFICIENCY", "STEROID 18-HYDROXYLASE DEFICIENCY", "ALDOSTERONE DEFICIENCY DUE TO DEFECT IN STEROID 18-HYDROXYLASE", "HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIA... |
A carcinoid tumor is a type of neuroendocrine tumor that usually develops in the digestive (GI) tract (such as the stomach or intestines) or in the lungs. In some cases, a carcinoid tumor develops in another part of the body, such as the pancreas, testicle (in men), or ovary (in women). It is a slow-growing tumor tha... | Carcinoid tumor | c0007095 | 1,731 | gard | https://rarediseases.info.nih.gov/diseases/9316/carcinoid-tumor | 2021-01-18T18:01:38 | {"mesh": ["D002276"], "umls": ["C0007095"], "synonyms": []} |
A group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. They manifest by fever, pallor, anemia, hemorrhages and recurrent infections.
## Epidemiology
Annual incidence rate of AML is estimated to be 1/3... | Acute myeloid leukemia | c0023467 | 1,732 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=519 | 2021-01-23T18:36:36 | {"gard": ["12757"], "mesh": ["D015470"], "omim": ["601626"], "umls": ["C0023467", "C1879321"], "icd-10": ["C92.0"], "synonyms": ["AML", "Acute myelogenous leukemia"]} |
Soviet poster circa 1925. Title translation: "Abortions induced by grandma or self-taught midwives not only maim the woman, they also often lead to death"
An unsafe abortion is the termination of a pregnancy by people lacking the necessary skills, or in an environment lacking minimal medical standards, or both.[1] A... | Unsafe abortion | None | 1,733 | wikipedia | https://en.wikipedia.org/wiki/Unsafe_abortion | 2021-01-18T18:29:11 | {"wikidata": ["Q1342132"]} |
Not to be confused with Bronchiolitis obliterans syndrome.
Cryptogenic organizing pneumonia
Micrograph showing a Masson body (off center left/bottom of the image – pale circular and paucicellular), as may be seen in cryptogenic organizing pneumonia. The Masson body plugs the airway. The artery associated with ... | Cryptogenic organizing pneumonia | c0242770 | 1,734 | wikipedia | https://en.wikipedia.org/wiki/Cryptogenic_organizing_pneumonia | 2021-01-18T18:51:23 | {"gard": ["1620", "5961"], "mesh": ["D018549"], "umls": ["C0242770"], "orphanet": ["1302"], "wikidata": ["Q2012642"]} |
## Summary
### Clinical characteristics.
For the purposes of this chapter, NFIA-related disorder is defined as heterozygous inactivation or disruption of only NFIA without involvement of adjacent or surrounding genes. NFIA-related disorder comprises central nervous system abnormalities (most commonly abnormalit... | NFIA-Related Disorder | None | 1,735 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK542336/ | 2021-01-18T21:09:14 | {"synonyms": ["NFIA Haploinsufficiency"]} |
A number sign (#) is used with this entry because of evidence that autosomal dominant medullary cystic kidney disease-1 (MCKD1) is caused by heterozygous mutation in the MUC1 gene (158340) on chromosome 1q22.
Description
Medullary cystic kidney disease (MCKD) is an autosomal dominant form of tubulointerstitial neph... | MEDULLARY CYSTIC KIDNEY DISEASE 1 | c1868139 | 1,736 | omim | https://www.omim.org/entry/174000 | 2019-09-22T16:36:03 | {"mesh": ["C536137"], "omim": ["174000"], "icd-10": ["Q61.5"], "orphanet": ["88949", "34149"], "synonyms": ["ADTKD-MUC1", "MUC1-related autosomal dominant medullary cystic kidney disease", "POLYCYSTIC KIDNEYS, MEDULLARY TYPE", "Alternative titles", "MUCI-related ADTKD", "Medullary cystic kidney disease type 1", "ADTKD"... |
Morgagni Stewart Morel syndrome
Other namesHyperostosis frontalis interna,' Metabolic craniopathy
Morgagni Stewart Morel syndrome is inherited in an X-linked recessive manner(or autosomal dominant).[1]
SpecialtyEndocrinology
Morgagni-Stewart-Morel syndrome is a condition with a wide range of associated end... | Morgagni Stewart Morel syndrome | c0020494 | 1,737 | wikipedia | https://en.wikipedia.org/wiki/Morgagni_Stewart_Morel_syndrome | 2021-01-18T18:48:11 | {"gard": ["8593"], "mesh": ["D006957"], "umls": ["C0020494"], "orphanet": ["77296"], "wikidata": ["Q9178742"]} |
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Some of this article's listed sources may not be reliable. Please help this article by looking for better, more reliable sources. Unreliable citations may be c... | Acute inhalation injury | c1997538 | 1,738 | wikipedia | https://en.wikipedia.org/wiki/Acute_inhalation_injury | 2021-01-18T18:35:09 | {"umls": ["C1997538"], "wikidata": ["Q1663497"]} |
A rare, X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.
## Epidemiology
The prevalence and incide... | Spastic paraplegia type 2 | c1839264 | 1,739 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99015 | 2021-01-23T17:02:56 | {"gard": ["4923"], "mesh": ["C536857"], "omim": ["312920"], "umls": ["C1839264"], "icd-10": ["G11.4"], "synonyms": ["SPG2", "Spastic gait type 2", "Spastic paraparesis type 2", "X-linked spastic paraplegia type 2"]} |
A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.
*[v]: View this template
*[t]: Discus... | Autosomal dominant spastic paraplegia type 12 | c1858106 | 1,740 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100993 | 2021-01-23T17:04:12 | {"gard": ["9586"], "mesh": ["C537484"], "omim": ["604805"], "umls": ["C1858106"], "icd-10": ["G11.4"], "synonyms": ["SPG12"]} |
Cerebral folate transport deficiency is a disorder that develops from a shortage (deficiency) of the B-vitamin folate (also called vitamin B9) in the brain. Affected children have normal development during infancy, but around age 2 they begin to lose previously acquired mental and movement abilities (psychomotor regr... | Cerebral folate transport deficiency | c2751584 | 1,741 | medlineplus | https://medlineplus.gov/genetics/condition/cerebral-folate-transport-deficiency/ | 2021-01-27T08:24:58 | {"gard": ["10594"], "mesh": ["C567791"], "omim": ["613068"], "synonyms": []} |
A number sign (#) is used with this entry because combined pituitary hormone deficiency-4 (CPHD4) is caused by heterozygous mutation in the LHX4 gene (602146) on chromosome 1q25.
For discussion of phenotypic and genetic heterogeneity of combined pituitary hormone deficiency, see CPHD1 (613038).
Clinical Features
M... | PITUITARY HORMONE DEFICIENCY, COMBINED, 4 | c2678408 | 1,742 | omim | https://www.omim.org/entry/262700 | 2019-09-22T16:23:20 | {"doid": ["9406"], "mesh": ["C567492"], "omim": ["262700"], "orphanet": ["85442"], "synonyms": ["Alternative titles", "PITUITARY HORMONE DEFICIENCY, COMBINED, WITH OR WITHOUT CEREBELLAR DEFECTS", "SHORT STATURE, PITUITARY AND CEREBELLAR DEFECTS, AND SMALL SELLA TURCICA"]} |
Oil derived from the tissues of oily fish
For Omegaven, see Fish oil (medical use).
See also: Omega-3 acid ethyl esters
Fish oil capsules
Fish oil is oil derived from the tissues of oily fish. Fish oils contain the omega-3 fatty acids eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA), precursors of certa... | Fish oil | None | 1,743 | wikipedia | https://en.wikipedia.org/wiki/Fish_oil | 2021-01-18T19:01:08 | {"mesh": ["D005395"], "wikidata": ["Q1786125"]} |
Morel's ear is the complete or partial absence of the helix or antihelix of the outer ear. Named after Bénédict Morel, a French psychiatrist who regarded it as one of the hereditary "stigmata of degeneration" that allowed medical professions to identify the mentally ill.[1]
Marcel Proust referenced Morel's ear i... | Morel's ear | None | 1,744 | wikipedia | https://en.wikipedia.org/wiki/Morel%27s_ear | 2021-01-18T18:49:17 | {"wikidata": ["Q6911278"]} |
Donnai and Winter (1989) presented examples of 5 fetuses and 1 newborn with abnormalities difficult to explain on the basis of amniotic bands (see 217100) and suggested that these may result from a mutant gene, the homolog of the mouse mutant 'disorganization' (Ds). The mouse mutant is a semidominant with variabl... | DISORGANIZATION, MOUSE, HOMOLOG OF | c1857230 | 1,745 | omim | https://www.omim.org/entry/223200 | 2019-09-22T16:28:40 | {"omim": ["223200"], "synonyms": ["Alternative titles", "DS"]} |
A number sign (#) is used with this entry because spinal muscular atrophy type II (SMA2) is caused by homozygous or compound heterozygous mutation in the SMN1 gene (600354) on chromosome 5q13.
The SMN1 gene is also involved in the more severe SMA type I (253300) and the less severe SMA type III (253400) and SMA type... | SPINAL MUSCULAR ATROPHY, TYPE II | c0393538 | 1,746 | omim | https://www.omim.org/entry/253550 | 2019-09-22T16:24:55 | {"doid": ["0050530"], "mesh": ["D014897"], "omim": ["253550"], "orphanet": ["70", "83418"], "synonyms": ["SMA II", "MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM", "Alternative titles", "SMA", "MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE"], "genereviews": ["NBK1352"]} |
This article is about the condition. For the film, see Red Tears. For the VV Brown song, see Crying Blood.
Haemolacria is a physical condition that causes a person to produce tears that are partially composed of blood. It can manifest as tears that are anything from merely red-tinged to appearing to be entirely made... | Haemolacria | c2747932 | 1,747 | wikipedia | https://en.wikipedia.org/wiki/Haemolacria | 2021-01-18T18:46:21 | {"umls": ["C2747932"], "wikidata": ["Q2703671"]} |
Bleeding disorder due to P2RY12 defect affects the way the platelets function. Platelets are important for helping the blood to clot. Symptoms of a bleeding disorder due to P2RY12 defect include frequent nose bleeds, easy bruising, and excessive bleeding after surgery or an accident. These symptoms can vary from pers... | Bleeding disorder due to P2RY12 defect | c1853278 | 1,748 | gard | https://rarediseases.info.nih.gov/diseases/12478/bleeding-disorder-due-to-p2ry12-defect | 2021-01-18T18:01:46 | {"mesh": ["C565220"], "omim": ["609821"], "orphanet": ["36355"], "synonyms": ["ADP platelet receptor P2Y12 defect", "P2Y12 defect", "Bleeding disorder due to ADP platelet receptor P2Y12 defect", "Bleeding disorder due to P2Y12 defect", "Bleeding disorder, platelet-type 8", "Bleeding disorder due to P2RX1 defect, somati... |
Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine.
## Epidemiology
The prev... | Hawkinsinuria | c2931042 | 1,749 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2118 | 2021-01-23T19:08:04 | {"gard": ["5668"], "mesh": ["C535845"], "omim": ["140350"], "umls": ["C2931042"], "icd-10": ["E70.2"], "synonyms": ["4-HPPD deficiency", "4-alpha-hydroxyphenylpyruvate hydroxylase deficiency", "4-hydroxyphenylpyruvic acid dioxygenase deficiency"]} |
Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.
## Epidemiology
To date, three cases have been described, all originating from the same family.
## Clinical description
Facial fea... | Spondyloepimetaphyseal dysplasia, aggrecan type | c2748544 | 1,750 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=171866 | 2021-01-23T17:14:45 | {"gard": ["10513"], "mesh": ["C567558"], "omim": ["612813"], "umls": ["C2748544"], "icd-10": ["Q77.7"], "synonyms": ["SEMD, aggrecan type"]} |
Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.
## Epidemiology
Prevalence is unknown but less than 150 cases have been reported in the literature so far. The disease appears to be more common... | Tyrosinemia type 2 | c0268487 | 1,751 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=28378 | 2021-01-23T18:34:22 | {"gard": ["3105"], "mesh": ["D020176"], "omim": ["276600"], "umls": ["C0268487"], "icd-10": ["E70.2"], "synonyms": ["Keratosis palmoplantaris-corneal dystrophy syndrome", "Oculocutaneous tyrosinemia", "Richner-Hanhart syndrome", "Tyrosinemia due to TAT deficiency", "Tyrosinemia due to tyrosine aminotransferase deficien... |
Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM, see this term).
## Epidemiology
Prevalence is unknown.
## Clinical description
Continuous and severe myotonia begins during childhood (usually before 10 years of age) and involves mainly the face, neck, limbs... | Myotonia permanens | c2931826 | 1,752 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99735 | 2021-01-23T16:59:11 | {"mesh": ["C538353"], "omim": ["608390"], "icd-10": ["G71.1"]} |
Autoimmune thyroiditis
Other namesChronic Autoimmune thyroiditis
SpecialtyEndocrinology
Autoimmune thyroiditis, is a chronic disease in which the body interprets the thyroid glands and its hormone products T3, T4 and TSH as threats, therefore producing special antibodies that target the thyroid's cells, ther... | Autoimmune thyroiditis | c0920350 | 1,753 | wikipedia | https://en.wikipedia.org/wiki/Autoimmune_thyroiditis | 2021-01-18T18:30:03 | {"gard": ["6570"], "mesh": ["D013967"], "umls": ["C0920350"], "wikidata": ["Q187842"]} |
A number sign (#) is used with this entry because of evidence that complete achromatopsia and some cases of incomplete achromatopsia are caused by homozygous or compound heterozygous mutation in the CNGA3 gene (600053), which encodes the alpha subunit of the cone photoreceptor cGMP-gated cation channel, on chromo... | ACHROMATOPSIA 2 | c0152200 | 1,754 | omim | https://www.omim.org/entry/216900 | 2019-09-22T16:29:30 | {"doid": ["0110007"], "mesh": ["D003117"], "omim": ["216900"], "orphanet": ["49382"], "synonyms": ["Alternative titles", "COLORBLINDNESS, TOTAL", "ROD MONOCHROMATISM 2", "ROD MONOCHROMACY 2"], "genereviews": ["NBK1418"]} |
A rare neurometabolic disease, due to a lipoic acid biosynthesis defect, with a highly variable phenotype, typically characterized by early-onset acute or subacute developmental delay or regression frequently associated with feeding difficulties. Clinical severity is variable and may range from mild cases which prese... | Multiple mitochondrial dysfunctions syndrome type 3 | c3809165 | 1,755 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363424 | 2021-01-23T18:26:08 | {"omim": ["615330"], "icd-10": ["E88.8"], "synonyms": ["IBA57 deficiency", "MMDS3"]} |
A number sign (#) is used with this entry because of evidence that Brunner syndrome (BRNRS) is caused by mutation in the gene encoding monoamine oxidase A (MAOA; 309850) on chromosome Xp11.
Description
Brunner syndrome is a recessive X-linked disorder characterized by impulsive aggressiveness and mild mental retard... | BRUNNER SYNDROME | c0796275 | 1,756 | omim | https://www.omim.org/entry/300615 | 2019-09-22T16:20:04 | {"doid": ["0060693"], "mesh": ["C563156"], "omim": ["300615"], "orphanet": ["3057"]} |
A number sign (#) is used with this entry because pentosuria (PNTSU) is caused by homozygous or compound heterozygous mutation in the DCXR gene (608347) on chromosome 17q25.
Description
Essential pentosuria is an inborn error of metabolism in which 1 to 4 gm of the pentose L-xylulose is excreted in the urine each d... | PENTOSURIA | c0268162 | 1,757 | omim | https://www.omim.org/entry/260800 | 2019-09-22T16:23:36 | {"doid": ["0111258"], "mesh": ["C536652"], "omim": ["260800"], "icd-10": ["E74.8"], "orphanet": ["2843"], "synonyms": ["Alternative titles", "L-XYLULOSURIA", "XYLITOL DEHYDROGENASE DEFICIENCY", "L-XYLULOSE REDUCTASE DEFICIENCY"]} |
A number sign (#) is used with this entry because of evidence that Timothy syndrome (TS) is caused by heterozygous mutation in the CACNA1C gene (114205) on chromosome 12p13.
Mutation in the CACNA1C gene can also cause Brugada syndrome (BRGDA3; 611875) and long QT syndrome (LQT8; 618447).
Description
Timothy syndro... | TIMOTHY SYNDROME | c1832916 | 1,758 | omim | https://www.omim.org/entry/601005 | 2019-09-22T16:15:31 | {"doid": ["0060173"], "mesh": ["C536962"], "omim": ["601005"], "orphanet": ["65283", "768"], "synonyms": ["Alternative titles", "LONG QT SYNDROME WITH SYNDACTYLY"], "genereviews": ["NBK1403", "NBK1129"]} |
Emergence delirium
Other namesAgitated emergence, emergence agitation, emergence excitement, postanesthetic excitement
SpecialtyAnesthesia
Emergence delirium is a condition in which emergence from general anesthesia is accompanied by psychomotor agitation. Some see a relation to pavor nocturnus[1] while othe... | Emergence delirium | c0920253 | 1,759 | wikipedia | https://en.wikipedia.org/wiki/Emergence_delirium | 2021-01-18T18:50:03 | {"mesh": ["D000071257"], "icd-9": ["292.81"], "icd-10": ["F13.4"], "wikidata": ["Q394116"]} |
Bruns apraxia
SpecialtyNeurology
Bruns apraxia, or frontal ataxia is a gait apraxia[1] found in patients with bilateral frontal lobe disorders. It is characterised by an inability to initiate the process of walking, despite the power and coordination of the legs being normal when tested in the seated or ly... | Bruns apraxia | None | 1,760 | wikipedia | https://en.wikipedia.org/wiki/Bruns_apraxia | 2021-01-18T18:38:49 | {"wikidata": ["Q4979461"]} |
Bannayan-Riley-Ruvalcaba syndrome is a genetic condition characterized by a large head size (macrocephaly), multiple noncancerous tumors and tumor-like growths called hamartomas, and dark freckles on the penis in males. The signs and symptoms of Bannayan-Riley-Ruvalcaba syndrome are present from birth or become a... | Bannayan-Riley-Ruvalcaba syndrome | c0391826 | 1,761 | medlineplus | https://medlineplus.gov/genetics/condition/bannayan-riley-ruvalcaba-syndrome/ | 2021-01-27T08:25:49 | {"gard": ["5887"], "mesh": ["D006223"], "omim": ["158350"], "synonyms": []} |
Gross pathology of an ovarian carcinoma.
Benign, borderline, or malignant neoplasm involving the ovary
Ovarian tumors, or ovarian neoplasms, are tumors arising from the ovary. They can be benign or malignant (ovarian cancer). They consists of mainly solid tissue, while ovarian cysts contain fluid.
## Histopatholog... | Ovarian tumor | c0919267 | 1,762 | wikipedia | https://en.wikipedia.org/wiki/Ovarian_tumor | 2021-01-18T18:54:18 | {"mesh": ["D010051"], "umls": ["C0919267"], "wikidata": ["Q11793790"]} |
Marie Unna hereditary hypotrichosis
Other namesMarie Unna hypotrichosis[1]
SpecialtyMedical genetics
Marie Unna hereditary hypotrichosis is an autosomal dominant condition characterized by scalp hair that is sparse or absent at birth, with variable coarse, wiry hair regrowth in childhood, and potential l... | Marie Unna hereditary hypotrichosis | c2931059 | 1,763 | wikipedia | https://en.wikipedia.org/wiki/Marie_Unna_hereditary_hypotrichosis | 2021-01-18T18:56:27 | {"gard": ["3390"], "mesh": ["C535912"], "umls": ["C2931059"], "orphanet": ["444"], "wikidata": ["Q1641486"]} |
inability to achieve orgasm despite adequate stimulation
Anorgasmia
SpecialtyPsychiatry, gynecology, urology
Anorgasmia is a type of sexual dysfunction in which a person cannot achieve orgasm despite adequate stimulation. Anorgasmia is far more common in females (4.6 percent)[1] than in males and is espec... | Anorgasmia | c0234022 | 1,764 | wikipedia | https://en.wikipedia.org/wiki/Anorgasmia | 2021-01-18T18:36:01 | {"icd-9": ["302.74", "302.73"], "icd-10": ["F52.3"], "wikidata": ["Q1772397"]} |
A rare, neural tube closure defect characterized by partial lacking of bone fusion, resulting in sac-like protrusions of the brain and the membranes that cover it through the openings in the skull. Protruding tissue may be located on any part of the head, but most often affects the occipital area. Depending in th... | Isolated encephalocele | c0014065 | 1,765 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=199647 | 2021-01-23T17:24:17 | {"gard": ["6333"], "mesh": ["D004677"], "icd-10": ["Q01.0", "Q01.1", "Q01.2", "Q01.8", "Q01.9"]} |
## Summary
### Clinical characteristics.
Shprintzen-Goldberg syndrome (SGS) is characterized by: delayed motor and cognitive milestones and mild-to-moderate intellectual disability; craniosynostosis of the coronal, sagittal, or lambdoid sutures; distinctive craniofacial features; and musculoskeletal findings includ... | Shprintzen-Goldberg Syndrome | c1321551 | 1,766 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1277/ | 2021-01-18T20:57:05 | {"mesh": ["C537328"], "synonyms": []} |
A rare rheumatologic disease characterized by bilateral morning stiffness which lasts > 45-60 min of duration associated with a subacute-onset of severe pain with active movements, typically affecting the shoulders, proximal upper limbs, neck and/or, less commonly, the pelvic girdle and proximal aspects of thighs, wh... | Polymyalgia rheumatica | c0032533 | 1,767 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93569 | 2021-01-23T17:11:43 | {"gard": ["4704"], "mesh": ["D011111"], "umls": ["C0032533", "C1527406"], "icd-10": ["M35.3"], "synonyms": ["Rhizomelic pseudopolyarthritis"]} |
Teebi and Kaurah (1996) described 3 Iranian sibs (2 boys and a girl), born of first-cousin parents, with the association of microcephaly (with normal intelligence), total anonychia, and transverse palmar creases. The same abnormalities were reportedly found in the proband's cousin; her parents were also consanguineou... | ANONYCHIA, TOTAL, WITH MICROCEPHALY | c2931373 | 1,768 | omim | https://www.omim.org/entry/607214 | 2019-09-22T16:09:31 | {"mesh": ["C536948"], "omim": ["607214"], "orphanet": ["1094"]} |
3-methylcrotonyl-CoA carboxylase deficiency (also known as 3-MCC deficiency) is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have a shortage of an enzyme that helps break down proteins containing a particular building block (amino acid) called leuci... | 3-methylcrotonyl-CoA carboxylase deficiency | c0268600 | 1,769 | medlineplus | https://medlineplus.gov/genetics/condition/3-methylcrotonyl-coa-carboxylase-deficiency/ | 2021-01-27T08:25:30 | {"gard": ["10954"], "mesh": ["C535308"], "omim": ["210200", "210210"], "synonyms": []} |
Kondo et al. (2004) studied 3 patients from 2 pedigrees with an unusual form of cone dystrophy (see 180020) in which the peripheral cone system was more affected than the central cone system, and whose rod system was relatively normal. The fundus examination and fluorescein angiogram results were essentially normal e... | PERIPHERAL CONE DYSTROPHY | c1836946 | 1,770 | omim | https://www.omim.org/entry/609021 | 2019-09-22T16:06:50 | {"mesh": ["C563813"], "omim": ["609021"]} |
A number sign (#) is used with this entry because congenital stationary night blindness type 1B is caused by mutation in the GRM6 gene (604096) on chromosome 5q35.
For a general phenotypic description and discussion of the genetic heterogeneity of congenital stationary night blindness, see CSNB1A (310500).
Clinical... | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B | c0339535 | 1,771 | omim | https://www.omim.org/entry/257270 | 2019-09-22T16:24:16 | {"doid": ["0110865"], "mesh": ["C536122"], "omim": ["257270"], "orphanet": ["215"], "synonyms": ["Alternative titles", "NIGHT BLINDNESS, CONGENITAL STATIONARY, COMPLETE, AUTOSOMAL RECESSIVE", "CSNB, COMPLETE, AUTOSOMAL RECESSIVE"]} |
A number sign (#) is used with this entry because of evidence that lymphatic malformation-1 (LMPHM1) is caused by heterozygous mutation in the FLT4 gene (136352) on chromosome 5q35. One patient with homozygous mutation in the FLT4 gene has been reported.
Description
Primary lymphedema is caused by anatomic or funct... | LYMPHATIC MALFORMATION 1 | c1704423 | 1,772 | omim | https://www.omim.org/entry/153100 | 2019-09-22T16:38:47 | {"doid": ["0070210"], "mesh": ["D008209"], "omim": ["153100"], "icd-10": ["Q82.0"], "orphanet": ["79452"], "synonyms": ["Alternative titles", "NONNE-MILROY LYMPHEDEMA", "MILROY DISEASE", "LYMPHEDEMA, EARLY-ONSET", "PRIMARY CONGENITAL LYMPHEDEMA", "LYMPHEDEMA, HEREDITARY, TYPE I, FORMERLY", "LYMPHEDEMA, HEREDITARY, IA, ... |
A number sign (#) is used with this entry because focal segmental glomerulosclerosis-8 (FSGS8) is caused by heterozygous mutation in the ANLN gene (616027) on chromosome 7p14.
For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, ... | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8 | c1868672 | 1,773 | omim | https://www.omim.org/entry/616032 | 2019-09-22T15:50:13 | {"doid": ["0111133"], "mesh": ["C536404"], "omim": ["616032"], "orphanet": ["656"], "synonyms": ["Alternative titles", "GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 8"]} |
Disorder that involves repeated thoughts (obsessions) that make a person feel driven to do something (compulsions)
"OCD" redirects here. It is not to be confused with Obsessive–compulsive personality disorder. For other uses, see OCD (disambiguation).
Parts of this article (those related to Article contains som... | Obsessive–compulsive disorder | c0028768 | 1,774 | wikipedia | https://en.wikipedia.org/wiki/Obsessive%E2%80%93compulsive_disorder | 2021-01-18T18:46:17 | {"mesh": ["D009771"], "umls": ["C0028768"], "wikidata": ["Q178190"]} |
A cerebral malformation characterized by symmetric, bilateral pachygyria with normal head circumference and without polymicrogyria. Clinical manifestations include developmental delay, moderate intellectual disability, normal or slightly decreased muscle tone and deep-tendon reflexes, telecanthus or hypertelorism... | Autosomal recessive frontotemporal pachygyria | c1853215 | 1,775 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=329329 | 2021-01-23T17:01:14 | {"mesh": ["C538092"], "umls": ["C1853215"], "icd-10": ["Q04.3"]} |
This article possibly contains original research. Please improve it by verifying the claims made and adding inline citations. Statements consisting only of original research should be removed. (July 2015) (Learn how and when to remove this template message)
Iconophobia
SpecialtyPsychology
Iconophobia (lit... | Iconophobia | None | 1,776 | wikipedia | https://en.wikipedia.org/wiki/Iconophobia | 2021-01-18T18:28:33 | {"wikidata": ["Q23808134"]} |
Giant-cell tumor of bone
Micrograph of a giant-cell tumor of bone showing the characteristic giant cells, H&E stain
SpecialtyOncology
Giant-cell tumor of the bone (GCTOB), is a relatively uncommon tumor of the bone. It is characterized by the presence of multinucleated giant cells (osteoclast-like cells). Ma... | Giant-cell tumor of bone | c0206638 | 1,777 | wikipedia | https://en.wikipedia.org/wiki/Giant-cell_tumor_of_bone | 2021-01-18T18:31:45 | {"gard": ["13046"], "mesh": ["D018212"], "umls": ["C0206638"], "icd-10": ["C41", "C40"], "orphanet": ["363976"], "wikidata": ["Q1785791"]} |
Histiocytosis-lymphadenopathy plus syndrome (also known as SLC29A3 spectrum disorder) is a group of conditions with overlapping signs and symptoms that affect many parts of the body. This group of disorders includes H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID), Faisalabad h... | Histiocytosis-lymphadenopathy plus syndrome | c1864445 | 1,778 | medlineplus | https://medlineplus.gov/genetics/condition/histiocytosis-lymphadenopathy-plus-syndrome/ | 2021-01-27T08:24:49 | {"gard": ["10239", "7588"], "mesh": ["C538322"], "omim": ["602782"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that chilblain lupus-1 (CHBL1) is caused by heterozygous mutation in the TREX1 gene (606609) on chromosome 3p21.
Description
Chilblain lupus is a cutaneous form of systemic lupus erythematosus (SLE; 152700) characterized by the appearance of painful blui... | CHILBLAIN LUPUS 1 | c0024145 | 1,779 | omim | https://www.omim.org/entry/610448 | 2019-09-22T16:04:29 | {"doid": ["0060386"], "mesh": ["C535924"], "omim": ["610448"], "orphanet": ["481662"], "synonyms": []} |
A rare genetic syndromic intellectual disability characterized by global developmental delay, moderate to severe intellectual disability, motor and language impairment, behavioral abnormalities (with mood instability, aggression, and self-mutilation), and progressive hand tremor. Facial dysmorphism includes narrow pa... | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | c4225395 | 1,780 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=457212 | 2021-01-23T16:55:55 | {"omim": ["616269"]} |
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This article does not cite any sources. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.... | Penetration (weaponry) | None | 1,781 | wikipedia | https://en.wikipedia.org/wiki/Penetration_(weaponry) | 2021-01-18T18:44:29 | {"wikidata": ["Q4096960"]} |
Myhre syndrome is a rare, connective tissue disorder that affects many parts of the body. Signs and symptoms include fibrosis (thickening and scarring of connective tissue), intellectual disability, distinctive facial features, skeletal abnormalities, and/or various birth defects. The syndrome may affect the stru... | Myhre syndrome | c0796081 | 1,782 | gard | https://rarediseases.info.nih.gov/diseases/2572/myhre-syndrome | 2021-01-18T17:58:51 | {"mesh": ["C537620"], "omim": ["139210"], "umls": ["C0796081"], "orphanet": ["2588"], "synonyms": ["Facial dysmorphism - intellectual deficit - short stature - hearing loss", "Laryngotracheal stenosis, arthropathy, prognathism, and short stature", "LAPS syndrome", "Growth mental deficiency syndrome of Myhre"]} |
## Description
Split-hand/split-foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals (Elliott and Evans, 2006).
For additional phenotypic i... | SPLIT-HAND/FOOT MALFORMATION 2 | c0265554 | 1,783 | omim | https://www.omim.org/entry/313350 | 2019-09-22T16:17:16 | {"doid": ["0090027"], "mesh": ["C574275"], "omim": ["313350"], "orphanet": ["2440"], "synonyms": ["Alternative titles", "SPLIT-HAND/SPLIT-FOOT ANOMALY, X-LINKED", "SPLIT-HAND/FOOT DEFORMITY 2", "SHSF2"]} |
Neonatal hemochromatosis (NH) is an iron storage disorder present at birth. It is a distinct entity that differs from adult hemochromatosis with respect to its molecular origin.
## Clinical description
Clinical signs occur as early as 48 hours after birth and are characterized by the association of severe hepatocel... | Neonatal hemochromatosis | c0268059 | 1,784 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=446 | 2021-01-23T18:18:35 | {"gard": ["7172"], "mesh": ["C536394"], "omim": ["231100"], "umls": ["C0268059"], "icd-10": ["E83.1"]} |
## Clinical Features
In an inbred kindred of south India, Mathew et al. (1970) observed 9 persons with static ophthalmoparesis beginning in childhood. Oropharyngeal weakness was not associated, but limb weakness was noted in 2. There was no response to neostigmine or echophonium, and the response to tetanic stimula... | OCULAR MYOPATHY WITH CURARE SENSITIVITY | c1850341 | 1,785 | omim | https://www.omim.org/entry/257600 | 2019-09-22T16:24:10 | {"mesh": ["C564937"], "omim": ["257600"]} |
Woolf et al. (1955) suggested that some families have scattered polyps as a dominant trait distinct from multiple polyposis of the colon. The kindred of Lindberg and Kock (1975) had these features. However, studies of polyposis I families (175100) show such wide variability in the number of polyps that it is difficul... | POLYPOSIS, INTESTINAL, SCATTERED AND DISCRETE | c1868006 | 1,786 | omim | https://www.omim.org/entry/175400 | 2019-09-22T16:35:58 | {"omim": ["175400"], "synonyms": ["Alternative titles", "POLYPS, SCATTERED, DISCRETE INTESTINAL"]} |
For a discussion of genetic heterogeneity of isolated microphthalmia with coloboma, see MCOPCB1 (300345).
Isolated microphthalmia associated with colobomatous cyst results from a defect in the closure of the embryonic fissure at the 7- to 20-mm stage of development. Microphthalmia can be associated with either a sma... | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 4 | c2931501 | 1,787 | omim | https://www.omim.org/entry/251505 | 2019-09-22T16:25:08 | {"mesh": ["C537463"], "omim": ["251505"], "orphanet": ["98938"], "synonyms": ["Alternative titles", "MICROPHTHALMIA WITH COLOBOMATOUS CYST"]} |
Acute fatty liver of pregnancy
SpecialtyObstetrics,
Perinatology,
Hepatology
ComplicationsDeath, Disseminated intravascular coagulation
Usual onsetThird trimester of pregnancy
CausesLong-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
Diagnostic methodClinical history and physical examination
... | Acute fatty liver of pregnancy | c1455728 | 1,788 | wikipedia | https://en.wikipedia.org/wiki/Acute_fatty_liver_of_pregnancy | 2021-01-18T18:56:16 | {"gard": ["9578"], "mesh": ["C537957"], "umls": ["C1455728"], "icd-9": ["646.7"], "icd-10": ["O26.6"], "orphanet": ["243367"], "wikidata": ["Q4677929"]} |
A number sign (#) is used with this entry because hereditary paragangliomas-2 (PGL2) is caused by mutation in the SDHAF2 gene (613019), which encodes a protein necessary for flavination of SDHA (600857).
For a phenotypic description and a discussion of genetic heterogeneity of familial paragangliomas, see PGL1 (... | PARAGANGLIOMAS 2 | c1866552 | 1,789 | omim | https://www.omim.org/entry/601650 | 2019-09-22T16:14:28 | {"doid": ["0050773"], "mesh": ["C566646"], "omim": ["601650"], "orphanet": ["29072"], "synonyms": ["GLOMUS TUMORS, FAMILIAL, 2", "Alternative titles", "Familial pheochromocytoma-paraganglioma"], "genereviews": ["NBK1548"]} |
Fibrous ankylosis is a fibrous connective tissue process which results in decreased range of motion.[1] Symptoms present as bony ankylosis, in which osseous tissue fuses two bones together reducing mobility, which is why fibrous ankylosis is also known as false ankylosis.
Pathology may be the result of trauma, disea... | Fibrous ankylosis | c0332791 | 1,790 | wikipedia | https://en.wikipedia.org/wiki/Fibrous_ankylosis | 2021-01-18T18:56:17 | {"umls": ["C0332791"], "icd-9": ["718.5"], "wikidata": ["Q5446480"]} |
Congenital partial agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation mainly characterized by the partial absence of the left pericardium. It is occasionally associated with chest pain or dyspnea and is usually incidentally diagnosed during surgery or at autopsy. Herniation and ... | Congenital partial agenesis of pericardium | None | 1,791 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99130 | 2021-01-23T17:01:39 | {"icd-10": ["Q24.8"]} |
Kamijo et al. (1997) concluded that deficiency of mitochondrial medium chain 3-ketoacyl-coenzyme A thiolase was responsible for the disorder of mitochondrial fatty acid beta-oxidation in a Japanese male neonate who died at 13 days of age. The patient presented at 2 days of age with vomiting, dehydration, metabolic ac... | MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY | c1865781 | 1,792 | omim | https://www.omim.org/entry/602199 | 2019-09-22T16:13:53 | {"mesh": ["C566566"], "omim": ["602199"], "synonyms": ["Alternative titles", "MCKAT DEFICIENCY"]} |
A number sign (#) is used with this entry because of evidence that long QT syndrome-14 (LQT14) is caused by heterozygous mutation in the CALM1 gene (114180) on chromosome 14q32.
For a general phenotypic description and discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500).
Clinical Features
Cr... | LONG QT SYNDROME 14 | c1141890 | 1,793 | omim | https://www.omim.org/entry/616247 | 2019-09-22T15:49:29 | {"doid": ["0110655"], "omim": ["616247"], "orphanet": ["768", "101016"], "genereviews": ["NBK1129"]} |
This article is about genetic disorders associated with the SMN1 gene. For a list of conditions with similar names, see Spinal muscular atrophies.
Rare congenital neuromuscular disorder
Spinal muscular atrophy
Other namesAutosomal recessive proximal spinal muscular atrophy, 5q spinal muscular atrophy
Location o... | Spinal muscular atrophy | c0026847 | 1,794 | wikipedia | https://en.wikipedia.org/wiki/Spinal_muscular_atrophy | 2021-01-18T19:05:31 | {"gard": ["7674"], "mesh": ["D009134"], "umls": ["C0026847"], "wikidata": ["Q580290"]} |
Nodulosis–arthropathy–osteolysis syndrome
SpecialtyDermatology
Nodulosis–arthropathy–osteolysis syndrome is a cutaneous condition that shares features with juvenile hyaline fibromatosis.[1]
## See also[edit]
* Winchester syndrome
* List of cutaneous conditions
## References[edit]
1. ^ Rapini, Ron... | Nodulosis–arthropathy–osteolysis syndrome | c1850155 | 1,795 | wikipedia | https://en.wikipedia.org/wiki/Nodulosis%E2%80%93arthropathy%E2%80%93osteolysis_syndrome | 2021-01-18T19:04:20 | {"mesh": ["C536051"], "umls": ["C1850155"], "orphanet": ["85196"], "wikidata": ["Q4420136"]} |
A number sign (#) is used with this entry because of evidence that occult macular dystrophy (OCMD) is caused by heterozygous mutation in the RP1L1 gene (608581) on chromosome 8p23.
Description
Occult macular dystrophy is characterized by progressive decline of visual acuity in both eyes, associated with a norma... | OCCULT MACULAR DYSTROPHY | c3150833 | 1,796 | omim | https://www.omim.org/entry/613587 | 2019-09-22T15:58:15 | {"doid": ["0050578"], "omim": ["613587"], "orphanet": ["247834"], "synonyms": ["OCMD", "OMD", "Alternative titles"]} |
A rare genetic disease characterized by childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent dia... | Polyendocrine-polyneuropathy syndrome | c4015261 | 1,797 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=453533 | 2021-01-23T17:04:27 | {"omim": ["616113"]} |
A number sign (#) is used with this entry because autosomal recessive deafness-9 (DFNB9) and auditory neuropathy-1 (AUNB1) are caused by homozygous or compound heterozygous mutation in the gene encoding otoferlin (OTOF; 603681) on chromosome 2p23.
Clinical Features
Chaib et al. (1996) reported a consanguineous Leba... | DEAFNESS, AUTOSOMAL RECESSIVE 9 | c1832828 | 1,798 | omim | https://www.omim.org/entry/601071 | 2019-09-22T16:15:28 | {"doid": ["0110535"], "mesh": ["C563396"], "omim": ["601071"], "orphanet": ["90636"], "synonyms": ["Autosomal recessive non-syndromic neurosensory deafness type DFNB", "NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9", "Alternative titles", "Autosomal recessive isolated sensorineural deafness type DFNB", "Autosomal rece... |
Bicipital tenosynovitis is tendinitis or inflammation of the tendon and sheath lining of the biceps muscle. It is often the result of many years of small tears or other degenerative changes in the tendon first manifesting in middle age, but can be due to a sudden injury. Calcification of the tendon, and osteophytes (... | Bicipital tenosynovitis | c0158304 | 1,799 | wikipedia | https://en.wikipedia.org/wiki/Bicipital_tenosynovitis | 2021-01-18T18:34:05 | {"umls": ["C0158304"], "wikidata": ["Q4903638"]} |
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