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Björnstad syndrome
Other namesBJS[1]
Björnstad syndrome is an autosomal recessive congenital condition involving pili torti,[2] nerve deafness and hair abnormalities.
It was first characterized in 1965, in Oslo, by prof. Roar Theodor Bjørnstad (1908–2002).[3]
It has been mapped to BCS1L.[4] Hearing disab... | Björnstad syndrome | c0266006 | 1,400 | wikipedia | https://en.wikipedia.org/wiki/Bj%C3%B6rnstad_syndrome | 2021-01-18T18:30:40 | {"gard": ["22"], "mesh": ["C537633"], "umls": ["C0266006"], "orphanet": ["123"], "wikidata": ["Q4919794"]} |
The syndrome steatocystoma multiplex and natal teeth is characterized by generalized multiple steatocystomas and natal teeth.
## Epidemiology
It has been described a five-generation Chinese family with at least 21 affected patients.
## Genetic counseling
The same condition has been reported in one additional ... | Steatocystoma multiplex-natal teeth syndrome | c1866650 | 1,401 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3184 | 2021-01-23T16:56:29 | {"gard": ["5004"], "mesh": ["C537487"], "omim": ["184510"], "umls": ["C1866650"], "icd-10": ["L72.2"]} |
A number sign (#) is used with this entry because autosomal recessive deafness-79 (DFNB79) is caused by homozygous mutation in the TPRN gene (613354) on chromosome 9q34.
Clinical Features
Khan et al. (2010) reported 3 consanguineous Pakistani families with severe to profound autosomal recessive prelingual nonsyndro... | DEAFNESS, AUTOSOMAL RECESSIVE 79 | c2750082 | 1,402 | omim | https://www.omim.org/entry/613307 | 2019-09-22T15:59:07 | {"doid": ["0110526"], "mesh": ["C567651"], "omim": ["613307"], "orphanet": ["90636"], "synonyms": ["Autosomal recessive isolated neurosensory deafness type DFNB", "Autosomal recessive isolated sensorineural deafness type DFNB", "Autosomal recessive non-syndromic neurosensory deafness type DFNB"]} |
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Find sources: "Salivary gland tumour" – news · newspapers · books · scholar · JSTOR (July 2016) (Learn how and when to remove this tem... | Salivary gland tumour | c0036095 | 1,403 | wikipedia | https://en.wikipedia.org/wiki/Salivary_gland_tumour | 2021-01-18T19:10:12 | {"mesh": ["D012468"], "umls": ["C0036095"], "icd-9": ["210.2", "142"], "icd-10": ["D11", "C08", "C07"], "orphanet": ["276142"], "wikidata": ["Q3267772"]} |
A number sign (#) is used with this entry because orofaciodigital syndrome VI (OFD6) is caused by homozygous or compound heterozygous mutation in the C5ORF42 gene (CPLANE1; 614571) on chromosome 5p13.
Mutation in the C5ORF42 gene can also cause Joubert syndrome-17 (JBTS17; 614615), a disorder with overlapping featur... | OROFACIODIGITAL SYNDROME VI | c2745997 | 1,404 | omim | https://www.omim.org/entry/277170 | 2019-09-22T16:21:24 | {"doid": ["0060376"], "mesh": ["C536531"], "omim": ["277170"], "orphanet": ["2754"], "synonyms": ["Alternative titles", "ORAL-FACIAL-DIGITAL SYNDROME, TYPE VI", "OFDS VI", "VARADI-PAPP SYNDROME", "VARADI SYNDROME", "POLYDACTYLY, CLEFT LIP/PALATE OR LINGUAL LUMP, AND PSYCHOMOTOR RETARDATION"]} |
A number sign (#) is used with this entry because sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) is caused by homozygous or compound heterozygous mutation in the nuclear-encoded DNA polymerase-gamma gene (POLG; 174763).
Recessive mutations in the POLG gene can also cause autosomal recessive prog... | SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS | c1843851 | 1,405 | omim | https://www.omim.org/entry/607459 | 2019-09-22T16:09:15 | {"doid": ["0111276"], "mesh": ["C537583"], "omim": ["607459"], "orphanet": ["70595", "254881", "402082"], "synonyms": ["Alternative titles", "SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE"], "genereviews": ["NBK26471"]} |
Serositis
SpecialtyRheumatology
Serositis refers to inflammation of the serous tissues of the body, the tissues lining the lungs (pleura), heart (pericardium), and the inner lining of the abdomen (peritoneum) and organs within. It is commonly found with fat wrapping or creeping fat.[1]
## Contents
* 1 Caus... | Serositis | c0036749 | 1,406 | wikipedia | https://en.wikipedia.org/wiki/Serositis | 2021-01-18T19:07:00 | {"mesh": ["D012700"], "wikidata": ["Q581349"]} |
## Summary
### Clinical characteristics.
Individuals with NGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG) typically display a clinical tetrad of developmental delay / intellectual disability in the mild to profound range, hypo- or alacrima, elevated liver transaminases that may spontaneously r... | NGLY1-Related Congenital Disorder of Deglycosylation | c3808991 | 1,407 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK481554/ | 2021-01-18T21:09:11 | {"mesh": ["C000626124"], "synonyms": ["NGLY1-CDDG", "NGLY1 Deficiency", "NGLY1-Related Disorder"]} |
Pyridoxal 5'-phosphate-dependent epilepsy is a condition that involves seizures beginning soon after birth or, in some cases, before birth. The seizures typically involve irregular involuntary muscle contractions (myoclonus), abnormal eye movements, and convulsions. Most babies with this condition are born prematurel... | Pyridoxal 5'-phosphate-dependent epilepsy | c1864723 | 1,408 | medlineplus | https://medlineplus.gov/genetics/condition/pyridoxal-5-phosphate-dependent-epilepsy/ | 2021-01-27T08:24:33 | {"gard": ["10730"], "mesh": ["C566449"], "omim": ["610090"], "synonyms": []} |
A number sign (#) is used with this entry because it represents a contiguous gene deletion syndrome (chr2:59.0-61.5 Mb; involving chromosome 2p16.1-p15).
Description
Chromosome 2p16.1-p15 deletion syndrome is a neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, an... | CHROMOSOME 2p16.1-p15 DELETION SYNDROME | c2675875 | 1,409 | omim | https://www.omim.org/entry/612513 | 2019-09-22T16:01:29 | {"doid": ["0060415"], "mesh": ["C567289"], "omim": ["612513"], "orphanet": ["261349"]} |
A number sign (#) is used with this entry because mevalonic aciduria (MEVA) is caused by homozygous or compound heterozygous mutation in the mevalonate kinase gene (MVK; 251170) on chromosome 12q24.
Description
Mevalonic aciduria, the first recognized defect in the biosynthesis of cholesterol and isoprenoids, is a ... | MEVALONIC ACIDURIA | c0342731 | 1,410 | omim | https://www.omim.org/entry/610377 | 2019-09-22T16:04:39 | {"doid": ["0050452"], "mesh": ["D054078"], "omim": ["610377"], "orphanet": ["29"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive hereditary spastic paraplegia-76 (SPG76) is caused by homozygous or compound heterozygous mutation in the CAPN1 gene (114220) on chromosome 11q13.
Description
Spastic paraplegia-76 is an autosomal recessive neurologic disorder ch... | SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE | c4310800 | 1,411 | omim | https://www.omim.org/entry/616907 | 2019-09-22T15:47:50 | {"doid": ["0110821"], "omim": ["616907"], "orphanet": ["488594"], "synonyms": ["SPG76"]} |
Hypocementosis is a reduction in the amount of cementum on a tooth root. It is a feature of conditions such as cleidocranial dysplasia and hypophosphatasia.[1]
## References[edit]
1. ^ Ireland R (25 March 2010). A Dictionary of Dentistry. Oxford University Press. p. 180. ISBN 978-0-19-953301-5.
* v
* t
* e... | Hypocementosis | None | 1,412 | wikipedia | https://en.wikipedia.org/wiki/Hypocementosis | 2021-01-18T18:42:09 | {"wikidata": ["Q20707496"]} |
A number sign (#) is used with this entry because of evidence that omodysplasia-2 (OMOD2) is caused by heterozygous mutation in the FZD2 gene (600667) on chromosome 17q21.
Description
Omodysplasia-2 is a rare autosomal dominant skeletal dysplasia characterized by shortened humeri, dislocated radial heads, short... | OMODYSPLASIA 2 | c2750355 | 1,413 | omim | https://www.omim.org/entry/164745 | 2019-09-22T16:37:08 | {"doid": ["0060288"], "mesh": ["C567664"], "omim": ["164745"], "orphanet": ["93328", "2733"], "synonyms": ["Alternative titles", "OMODYSPLASIA, AUTOSOMAL DOMINANT"]} |
A number sign (#) is used with this entry because molybdenum cofactor deficiency of complementation group A (MOCODA) is caused by homozygous or compound heterozygous mutation in the MOCS1 gene (603707) on chromosome 6p21.
Description
Molybdenum cofactor deficiency (MOCOD) is a rare autosomal recessive metabolic dis... | MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A | c1854988 | 1,414 | omim | https://www.omim.org/entry/252150 | 2019-09-22T16:24:59 | {"doid": ["0111164"], "mesh": ["C565372"], "omim": ["252150"], "orphanet": ["833", "99732", "308386"], "synonyms": ["MOCOD", "Alternative titles", "Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase", "SULFITE OXIDASE, XANTHINE DEHYDROGENASE, AND ALDEHYDE OXIDASE, COMBINED DEFICIENCY OF... |
Primary peritoneal carcinoma
Micrograph of a serous carcinoma, which may arise from the peritoneal lining
SpecialtyOncology
Primary peritoneal cancer or carcinoma is also known as serous surface papillary carcinoma, primary peritoneal carcinoma, extra-ovarian serous carcinoma, primary serous papillary carcin... | Primary peritoneal carcinoma | c1514428 | 1,415 | wikipedia | https://en.wikipedia.org/wiki/Primary_peritoneal_carcinoma | 2021-01-18T18:36:00 | {"umls": ["C1514428"], "icd-9": ["158"], "icd-10": ["C48.1", "C48.2"], "orphanet": ["168829"], "wikidata": ["Q1816041"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to schizophrenia-19 (SCZD19) is conferred by heterozygous mutation in the RBM12 gene (607179) on chromosome 20q11.
Clinical Features
Steinberg et al. (2017) reported a large Icelandic family in which 6 individuals were diagnosed w... | SCHIZOPHRENIA 19 | c4539944 | 1,416 | omim | https://www.omim.org/entry/617629 | 2019-09-22T15:45:18 | {"omim": ["617629"], "synonyms": ["Alternative titles", "SCHIZOPHRENIA 19 WITH OR WITHOUT AN AFFECTIVE DISORDER"]} |
Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism.
## Epidemiology
It has been reported in 2 unrelated patients.
... | Paternal 20q13.2q13.3 microdeletion syndrome | c4510306 | 1,417 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=261304 | 2021-01-23T17:22:38 | {"icd-10": ["Q93.5"], "synonyms": ["Paternal del(20)(q13.2q13.3)", "Paternal monosomy 20q13.2q13.3"]} |
Medical term for seeing everything tinted in blue
Cyanopsia is a medical term for seeing everything tinted with blue. It is also referred to as blue vision. Cyanopsia often occurs for a few days, weeks, or months after removal of a cataract from the eye. Cyanopsia also sometimes occurs as a side effect of taking sil... | Cyanopsia | c0854725 | 1,418 | wikipedia | https://en.wikipedia.org/wiki/Cyanopsia | 2021-01-18T18:48:12 | {"umls": ["C0854725"], "wikidata": ["Q5197477"]} |
## Summary
The purpose of this overview is to increase the awareness of clinicians regarding the genetic causes of holoprosencephaly and to inform genetic counseling of family members.
The following are the goals of this overview.
### Goal 1.
Describe the clinical characteristics of holoprosencephaly.
### Goal 2... | Holoprosencephaly Overview | None | 1,419 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1530/ | 2021-01-18T21:19:36 | {"synonyms": []} |
X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid.
## Epidemiology
Prevalence is unknown. Around 200 cases and fewer than... | X-linked sideroblastic anemia | c4551511 | 1,420 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=75563 | 2021-01-23T19:11:19 | {"gard": ["9456"], "mesh": ["C536761"], "omim": ["300751"], "icd-10": ["D64.0"], "synonyms": ["XLSA"]} |
Pontocerebellar hypoplasia
Other namesNon-syndromic pontocerebellar hypoplasia
Pontocerebellar hypoplasia is inherited in an autosomal recessive manner
SpecialtyNeurology
TreatmentThere is no known treatment.
Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare neurodegenerative disorders ca... | Pontocerebellar hypoplasia | c0266468 | 1,421 | wikipedia | https://en.wikipedia.org/wiki/Pontocerebellar_hypoplasia | 2021-01-18T19:08:05 | {"gard": ["10977", "8168"], "mesh": ["C580383"], "umls": ["C0266468"], "orphanet": ["98523"], "wikidata": ["Q1698867"]} |
Benign rolandic epilepsy (BRE) is the most common form of childhood epilepsy. It is referred to as "benign" because most children outgrow the condition by puberty. This form of epilepsy is characterized by seizures involving a part of the brain called the rolandic area. These seizures typically begin between the ... | Benign rolandic epilepsy (BRE) | c2363129 | 1,422 | gard | https://rarediseases.info.nih.gov/diseases/10287/benign-rolandic-epilepsy-bre | 2021-01-18T18:01:49 | {"mesh": ["D019305"], "omim": ["117100"], "synonyms": ["Benign rolandic epilepsy of childhood (BREC)", "Benign epilepsy with centro-temporal spikes (BECTS)", "Benign epilepsy of childhood with centrotemporal spikes (BECCT)"]} |
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Find sources: "Splenic sequestration crisis" – news · newspapers · books · scholar · JSTOR (February 2019) (Learn how and when to remo... | Splenic sequestration crisis | c1536066 | 1,423 | wikipedia | https://en.wikipedia.org/wiki/Splenic_sequestration_crisis | 2021-01-18T19:03:21 | {"wikidata": ["Q63430622"]} |
A rare, autosomal recessive, multiple congenital anomalies/dysmorphic syndrome characterized mainly by developmental delay, variable intellectual disability, microcephaly, cerebellar hypoplasia, dysmorphic features (central incisors macrodontia and slender fingers), short stature and variable congenital anomalies... | Cerebellar-facial-dental syndrome | c4015495 | 1,424 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=444072 | 2021-01-23T18:21:40 | {"omim": ["616202"], "icd-10": ["Q87.0"], "synonyms": ["Cerebellofaciodental syndrome"]} |
Hecht (1971) described a family, presumably his own, in which a male and 2 sons of his brother had exquisite sensitivity to insect stings. This is a situation of possible genetic sensitivity to an environmental insult, comparable to familial farmer's lung and pulmonary edema of mountaineers (178400), as well as to le... | INSECT STINGS, HYPERSENSITIVITY TO | c1840171 | 1,425 | omim | https://www.omim.org/entry/147540 | 2019-09-22T16:39:24 | {"omim": ["147540"]} |
## Description
Age-related cataracts are one of the leading causes of visual impairment and blindness among the elderly worldwide. Among age-related cataracts, cortical opacities rank as the second most common type (Iyengar et al., 2004).
The preferred title/symbol of this entry was formerly 'Cataract, Age-Related... | CATARACT 28 | c1836942 | 1,426 | omim | https://www.omim.org/entry/609026 | 2019-09-22T16:06:50 | {"mesh": ["C563812"], "omim": ["609026"], "synonyms": ["Alternative titles", "CATARACT, AGE-RELATED CORTICAL, 1"]} |
## Summary
### Clinical characteristics.
Coffin-Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, distinctive facial features, hypotonia, hirsutism/hypertrichosis, and spars... | Coffin-Siris Syndrome | c0265338 | 1,427 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK131811/ | 2021-01-18T21:33:55 | {"mesh": ["C536436"], "synonyms": ["Fifth Digit Syndrome"]} |
Four members of a family, father, daughter and 2 sons, presented with papulonodular eruptions, symmetric arthritis and ocular lesions. Zayid and Farraj (1973) described this condition as similar to, but distinct from, multicentric reticulohistiocytosis. The 4 affected family members showed multiple benign cutaneous h... | HISTIOCYTIC DERMATOARTHRITIS | c1840551 | 1,428 | omim | https://www.omim.org/entry/142730 | 2019-09-22T16:40:10 | {"mesh": ["C564183"], "omim": ["142730"]} |
Iron-deficiency anemia
Other namesIron-deficiency anaemia
Red blood cells
SpecialtyHematology
SymptomsFeeling tired, weakness, shortness of breath, confusion, pallor[1]
ComplicationsHeart failure, arrhythmias, frequent infections[2]
CausesIron deficiency[3]
Diagnostic methodBlood tests[4]
TreatmentDie... | Iron-deficiency anemia | c0162316 | 1,429 | wikipedia | https://en.wikipedia.org/wiki/Iron-deficiency_anemia | 2021-01-18T18:34:29 | {"mesh": ["D018798"], "umls": ["C0162316"], "icd-10": ["D50"], "wikidata": ["Q954674"]} |
Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity.
## Epidemiology
In Finland, an incidence at birth of 1/55,000 is reported and in British Colum... | Glycine encephalopathy | c0751748 | 1,430 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=407 | 2021-01-23T18:31:58 | {"gard": ["7219"], "mesh": ["D020158"], "omim": ["605899"], "umls": ["C0751748"], "icd-10": ["E72.5"], "synonyms": ["NKA", "Non-ketotic hyperglycinemia"]} |
Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.
## Epidemiology
The annual incidence is estimated at 1/ 64,000- 1/ 96,000.
## Clinical description
Isolated aniridia can occur in association with a range of other ocular anomalies includi... | Isolated aniridia | c0003076 | 1,431 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=250923 | 2021-01-23T17:27:58 | {"gard": ["5816"], "mesh": ["D015783"], "omim": ["106210", "617141", "617142"], "umls": ["C0003076"], "icd-10": ["Q13.1"]} |
Congenital coronary artery aneurysm is a rare congenital coronary artery malformation defined as a more than 1.5 fold the normal size dilatation of a coronary artery segment with no identified underlying inflammatory or connective tissue disease. It may be asymptomatic or may present with angina pectoris, myocardial ... | Congenital coronary artery aneurysm | c0340627 | 1,432 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=95491 | 2021-01-23T17:08:59 | {"icd-10": ["Q24.5"], "synonyms": ["Congenital coronary aneurysm"]} |
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Papuloerythroderma of Ofuji
SpecialtyDermatology
Papuloerythroderma ... | Papuloerythroderma of Ofuji | c0406305 | 1,433 | wikipedia | https://en.wikipedia.org/wiki/Papuloerythroderma_of_Ofuji | 2021-01-18T18:42:28 | {"gard": ["8534"], "mesh": ["C535953"], "umls": ["C0406305"], "icd-10": ["L30.8"], "wikidata": ["Q7133231"]} |
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: "Murine typhus" – news · newspapers · books · scholar · JSTOR (January 2019) (Learn how and when to remove this temp... | Murine typhus | c0041472 | 1,434 | wikipedia | https://en.wikipedia.org/wiki/Murine_typhus | 2021-01-18T19:02:59 | {"mesh": ["D014437"], "icd-9": ["081.0"], "icd-10": ["A75.2"], "orphanet": ["83315"], "synonyms": ["Endemic typhus", "Flea-borne typhus"], "wikidata": ["Q3084532"]} |
A number sign (#) is used with this entry because of evidence that X-linked mental retardation-63 can be caused by mutation in the ACSL4 (300157) gene.
Clinical Features
Raynaud et al. (2000) reported a 4-generation family with nonspecific nonsyndromic X-linked mental retardation. Affected males showed nonprogr... | MENTAL RETARDATION, X-LINKED 63 | c2931498 | 1,435 | omim | https://www.omim.org/entry/300387 | 2019-09-22T16:20:24 | {"doid": ["0050776"], "mesh": ["C567906"], "omim": ["300387"], "orphanet": ["777"], "synonyms": ["Alternative titles", "MENTAL RETARDATION, X-LINKED 68"]} |
Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.
## Epidemiology
It has been reported in 11 patients from a three-generation family.
## Cl... | Familial scaphocephaly syndrome, McGillivray type | c1865070 | 1,436 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=168624 | 2021-01-23T18:42:21 | {"mesh": ["C566511"], "omim": ["609579"], "umls": ["C1865070"], "icd-10": ["Q87.0"], "synonyms": ["Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome"]} |
Raccoon eyes
Other namesPanda eyes
Bilateral raccoon eyes
SpecialtyNeurosurgery
Raccoon eyes (also known in the United Kingdom and Ireland as panda eyes) or periorbital ecchymosis is a sign of basal skull fracture or subgaleal hematoma, a craniotomy that ruptured the meninges, or (rarely) certain cancers.[... | Raccoon eyes | c2053461 | 1,437 | wikipedia | https://en.wikipedia.org/wiki/Raccoon_eyes | 2021-01-18T18:58:00 | {"umls": ["C2053461"], "wikidata": ["Q1047245"]} |
A number sign (#) is used with this entry because autosomal recessive hereditary thrombophilia due to protein C deficiency is caused by homozygous or compound heterozygous mutation in the PROC gene (612283) on chromosome 2q14.
See also autosomal dominant thrombophilia due to protein C deficiency (THPH3; 176860),... | THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE | c2930896 | 1,438 | omim | https://www.omim.org/entry/612304 | 2019-09-22T16:01:52 | {"mesh": ["C535424"], "omim": ["612304"], "orphanet": ["745"], "synonyms": ["Alternative titles", "PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE", "PROC DEFICIENCY, AUTOSOMAL RECESSIVE"]} |
## Description
Familial male hypogonadism is a highly heterogeneous category from which some disorders such as Reifenstein syndrome (312300), Kallmann syndrome (see 308700), isolated gonadotropin deficiency, and some other entities can be separated. The presence of an autosomal recessive form is suggested by the oc... | HYPOGONADISM, MALE | c0151721 | 1,439 | omim | https://www.omim.org/entry/241100 | 2019-09-22T16:26:36 | {"doid": ["1924"], "mesh": ["D005058"], "omim": ["241100"], "icd-10": ["E29.1"]} |
A number sign (#) is used with this entry because nonspherocytic hemolytic anemia can be caused by homozygous or compound heterozygous mutation in the PHI gene (GPI; 172400) on chromosome 19q13.
Clinical Features
Baughan et al. (1968) found deficiency of erythrocyte GPI in an adolescent boy with lifelong nonspheroc... | HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY | c3150730 | 1,440 | omim | https://www.omim.org/entry/613470 | 2019-09-22T15:58:34 | {"doid": ["2861"], "omim": ["613470"], "orphanet": ["712"], "synonyms": []} |
A number sign (#) is used with this entry because Allan-Herndon-Dudley syndrome (AHDS) is caused by mutation in the MCT8 gene (SLC16A2; 300095) on chromosome Xq13.
Clinical Features
Allan et al. (1944) described a kindred of 24 males affected by severe mental retardation spanning 6 generations. The patients had hyp... | ALLAN-HERNDON-DUDLEY SYNDROME | c0795889 | 1,441 | omim | https://www.omim.org/entry/300523 | 2019-09-22T16:20:08 | {"doid": ["0050631"], "mesh": ["C537047"], "omim": ["300523"], "orphanet": ["280270", "59"], "synonyms": ["Alternative titles", "MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY", "ALLAN-HERNDON SYNDROME", "MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA", "T3 RESISTANCE", "TRIIODOTHYRONINE RESISTANCE", "PMLD", "MENTAL RETARDATIO... |
## Clinical Features
Goodpasture syndrome is an autoimmune disease of lung and kidney. Viral and streptococcal infections and exposure to hydrocarbon fumes have been suggested as possible causes. Three familial instances (Gossain et al., 1972; Maddock et al., 1967), including a pair of identical twins (D'Apice et a... | GOODPASTURE SYNDROME | c0403529 | 1,442 | omim | https://www.omim.org/entry/233450 | 2019-09-22T16:27:24 | {"doid": ["9808"], "mesh": ["D019867"], "omim": ["233450"], "icd-9": ["446.21"], "icd-10": ["M31.0"], "orphanet": ["375"]} |
Obstructive uropathy
SpecialtyUrology
Obstructive uropathy is a structural or functional hindrance of normal urine flow,[1] sometimes leading to renal dysfunction (obstructive nephropathy).
It is a very broad term, and does not imply a location or cause.
## Contents
* 1 Symptoms
* 2 Causes
* 3 Diagnos... | Obstructive uropathy | c0477731 | 1,443 | wikipedia | https://en.wikipedia.org/wiki/Obstructive_uropathy | 2021-01-18T18:34:25 | {"umls": ["C0477731"], "wikidata": ["Q2013137"]} |
## Clinical Features
Verloes et al. (1989) reported a brother and sister and probably a third sib with a seemingly characteristic and previously undescribed syndrome. Microcephaly was severe and there was also microphthalmia, brachydactyly with clinodactyly 5, delayed growth in puberty, and severe mental retard... | GOMBO SYNDROME | c1856274 | 1,444 | omim | https://www.omim.org/entry/233270 | 2019-09-22T16:27:23 | {"mesh": ["C537284"], "omim": ["233270"], "synonyms": ["Alternative titles", "GROWTH RETARDATION, OCULAR ABNORMALITIES, MICROCEPHALY, BRACHYDACTYLY, AND OLIGOPHRENIA"]} |
Plant disease that primarily affects Bananas
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This article includes a list of general references, but it remains largely unverified because it lacks sufficient cor... | Panama disease | None | 1,445 | wikipedia | https://en.wikipedia.org/wiki/Panama_disease | 2021-01-18T19:06:47 | {"wikidata": ["Q3240031"]} |
Polymyositis is a type of inflammatory myopathy, which refers to a group of muscle diseases characterized by chronic muscle inflammation and weakness. The muscles affected by polymyositis are the skeletal muscles (those involved with making movements) on both sides of the body. Although the disease can affect people ... | Polymyositis | c0085655 | 1,446 | gard | https://rarediseases.info.nih.gov/diseases/7425/polymyositis | 2021-01-18T17:58:15 | {"mesh": ["D017285"], "umls": ["C0085655"], "synonyms": []} |
GATA2 deficiency
Other namesGATA2 haploinsufficiency, GATA2 deficiency syndrome
GATA2 deficiency is a grouping of several disorders caused by common defect, viz., familial or sporadic inactivating mutations in one of the two parental GATA2 genes. These autosomal dominant mutations cause a reduction, i.e. a hap... | GATA2 deficiency | c3280030 | 1,447 | wikipedia | https://en.wikipedia.org/wiki/GATA2_deficiency | 2021-01-18T18:46:50 | {"gard": ["13373"], "mesh": ["D000077428"], "umls": ["C3280030"], "wikidata": ["Q55612175"]} |
Congenital herpesviral (herpes simplex) infection
SpecialtyPediatrics
Neonatal herpes simplex is a rare but serious condition, usually caused by vertical transmission of the herpes simplex virus from mother to newborn. Around 1 in every 3,500 babies in the United States contract the infection.[1]
## Contents
... | Neonatal herpes simplex | c0495407 | 1,448 | wikipedia | https://en.wikipedia.org/wiki/Neonatal_herpes_simplex | 2021-01-18T18:37:38 | {"gard": ["1486"], "umls": ["C2931185", "C0495407", "C0276225", "C4275250"], "icd-9": ["771.2"], "icd-10": ["P35.2"], "orphanet": ["293"], "wikidata": ["Q3134326"]} |
X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.
## Epidemiology
Prevalence is unknown. To date, 10 patients (4 males and 6 females) in a... | X-linked dominant chondrodysplasia, Chassaing-Lacombe type | c3275476 | 1,449 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=163966 | 2021-01-23T19:11:49 | {"omim": ["300863"], "icd-10": ["Q87.8"], "synonyms": ["X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome"]} |
Familial transthyretin amyloidosis (FTA) is a rare inherited condition characterized by abnormal build-up of a protein called amyloid in the body's organs and tissues. Symptoms start in adulthood and get worse over time. Signs and symptoms depend on where the amyloid protein is building up. Amyloid build-up in the ne... | Familial transthyretin amyloidosis | c2751492 | 1,450 | gard | https://rarediseases.info.nih.gov/diseases/656/familial-transthyretin-amyloidosis | 2021-01-18T18:00:31 | {"mesh": ["C567782"], "omim": ["105210"], "umls": ["C2751492"], "synonyms": ["Amyloidosis, hereditary, transthyretin-related", "Transthyretin amyloidosis", "Familial amyloid polyneuropathy", "Amyloidosis Transthyretin related", "Transthyretin amyloid neuropathy", "TTR amyloid neuropathy", "Transthyretin amyloid polyneu... |
A rare neurological disease which is a circadian rhythm sleep disorder characterized by non-synchronization to a 24-hour day leading to insomnia and daytime sleepiness with sometimes severe associated manifestations.
## Epidemiology
Approximately half of all people with complete blindness are thought to be affected... | Non-24-hour sleep-wake syndrome | c0751759 | 1,451 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=73267 | 2021-01-23T17:52:35 | {"gard": ["10949"], "mesh": ["D020178"], "umls": ["C0751759"], "icd-10": ["G47.2"], "synonyms": ["Hypernychthemeral syndrome"]} |
Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalie... | Spondyloepiphyseal dysplasia, Reardon type | c1833603 | 1,452 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=163662 | 2021-01-23T16:58:21 | {"mesh": ["C563472"], "omim": ["600561"], "umls": ["C1833603"], "icd-10": ["Q77.7"]} |
Calcification occurring in degenerated or necrotic tissue
Amyloidosis, dystrophic calcification
Dystrophic calcification (DC) is the calcification occurring in degenerated or necrotic tissue, as in hyalinized scars, degenerated foci in leiomyomas, and caseous nodules. This occurs as a reaction to tissue damage,[1] ... | Dystrophic calcification | c0333582 | 1,453 | wikipedia | https://en.wikipedia.org/wiki/Dystrophic_calcification | 2021-01-18T19:01:45 | {"umls": ["C0333582"], "wikidata": ["Q3650238"]} |
A number sign (#) is used with this entry because of evidence that DFNB37 is caused by homozygous mutation in the gene encoding myosin VI (MYO6; 600970) on chromosome 6q14.
Clinical Features
Ahmed et al. (2003) reported a Pakistani family in which 6 individuals had bilateral, profound, congenital sensorineural ... | DEAFNESS, AUTOSOMAL RECESSIVE 37 | c1843028 | 1,454 | omim | https://www.omim.org/entry/607821 | 2019-09-22T16:08:44 | {"doid": ["0110495"], "mesh": ["C564331"], "omim": ["607821"], "orphanet": ["90636"], "synonyms": ["Autosomal recessive isolated neurosensory deafness type DFNB", "Autosomal recessive isolated sensorineural deafness type DFNB", "Autosomal recessive non-syndromic neurosensory deafness type DFNB"], "genereviews": ["NBK14... |
A number sign (#) is used with this entry because of evidence that intellectual developmental disorder with neuropsychiatric features (IDDNPF) is caused by homozygous mutation in the SLC45A1 gene (605763) on chromosome 1p36.
Description
Intellectual developmental disorder with neuropsychiatric features is an autoso... | INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES | c4479636 | 1,455 | omim | https://www.omim.org/entry/617532 | 2019-09-22T15:45:37 | {"omim": ["617532"]} |
## Description
N-glycolylneuraminic acid (NeuGc), a sialic acid involved in cell-cell recognition and cell-pathogen interactions, is abundantly expressed in most mammals but is not detectable in humans. The expression of NeuGc is controlled by cytidine monophospho-N-acetylneuraminic acid (CMP-NeuAc) hydroxylase act... | CYTIDINE MONOPHOSPHO-N-ACETYLNEURAMINIC ACID HYDROXYLASE, PSEUDOGENE | None | 1,456 | omim | https://www.omim.org/entry/603209 | 2019-09-22T16:13:18 | {"omim": ["603209"], "synonyms": ["Alternative titles", "CMAH", "CMP-NeuAc HYDROXYLASE", "CMP-Neu5Ac HYDROXYLASE", "CMP-SIALIC ACID HYDROXYLASE"]} |
Intracranial arteriovenous malformations (AVMs) are abnormal connections between the arteries and veins in the brain. Most people with brain or spinal AVMs experience few, if any, major symptoms. About 12 percent of people with this condition experience symptoms that vary greatly in severity. Seizures and headaches a... | Intracranial arteriovenous malformation | c0007772 | 1,457 | gard | https://rarediseases.info.nih.gov/diseases/3020/intracranial-arteriovenous-malformation | 2021-01-18T17:59:45 | {"mesh": ["D002538"], "umls": ["C0007772"], "orphanet": ["46724"], "synonyms": ["Intracranial AVM", "Cerebral arteriovenous malformation"]} |
A rare, systemic amyloidosis characterized by a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis la... | AGel amyloidosis | c0936273 | 1,458 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85448 | 2021-01-23T19:04:58 | {"gard": ["2339"], "mesh": ["D028227"], "omim": ["105120"], "umls": ["C0936273"], "icd-10": ["E85.1"], "synonyms": ["Familial amyloid polyneuropathy type IV", "Familial amyloidosis, Finnish type", "Gelsolin amyloidosis", "Hereditary amyloidosis, Finnish type"]} |
A number sign (#) is used with this entry because of evidence that maturity-onset diabetes of the young type 7 (MODY7) is caused by heterozygous mutation in the KLF11 gene (603301) on chromosome 2p25.
For a phenotypic description and a discussion of genetic heterogeneity of MODY, see 606391.
Molecular Genetics
Nev... | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7 | c0342276 | 1,459 | omim | https://www.omim.org/entry/610508 | 2019-09-22T16:04:26 | {"doid": ["0111106"], "mesh": ["C562772"], "omim": ["610508"], "orphanet": ["552"], "genereviews": ["NBK500456"]} |
A number sign (#) is used with this entry because hereditary paragangliomas-3 (PGL3) is caused by heterozygous mutation in the SDHC gene (602413) on chromosome 1q23, which encodes subunit C of the succinate dehydrogenase complex.
For a phenotypic description and a discussion of genetic heterogeneity of familial para... | PARAGANGLIOMAS 3 | c1854336 | 1,460 | omim | https://www.omim.org/entry/605373 | 2019-09-22T16:11:23 | {"doid": ["0050773"], "mesh": ["C565335"], "omim": ["605373"], "orphanet": ["29072"], "synonyms": ["Alternative titles", "Familial pheochromocytoma-paraganglioma", "GLOMUS TUMORS, FAMILIAL, 3"], "genereviews": ["NBK1548"]} |
By polyacrylamide gel electrophoresis, Ziomek and Szewczuk (1978) demonstrated polymorphism of Co(2+)-activated acylase of human liver, kidney and small intestine as well as serum from patients with viral hepatitis. Family studies were not reported. This enzyme is an N-acylamino acid amidohydrolase that cleaves the l... | ACYLASE, COBALT-ACTIVATED | c0110356 | 1,461 | omim | https://www.omim.org/entry/102590 | 2019-09-22T16:45:22 | {"omim": ["102590"]} |
Unplanned event that did not result in injury, illness, or damage but had the potential to do so
"Close call" redirects here. For the film, see Close Call.
A near miss, "near hit", "close call", or "nearly a collision" is an unplanned event that has the potential to cause, but does not actually result in human inju... | Near miss (safety) | None | 1,462 | wikipedia | https://en.wikipedia.org/wiki/Near_miss_(safety) | 2021-01-18T18:34:40 | {"wikidata": ["Q1674639"]} |
Ellsworth (1927) found displacement of the carpal bone group on the radius and ulna. The distal epiphyses of these bones were misshapen. Five females in 4 generations were affected in a pattern equally consistent with either autosomal or X-linked inheritance. Carpal bossing appears to be the same trait as Ellsworth d... | CARPAL DISPLACEMENT | c1861847 | 1,463 | omim | https://www.omim.org/entry/115400 | 2019-09-22T16:43:40 | {"omim": ["115400"], "synonyms": ["Alternative titles", "CARPAL BOSSING"]} |
Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vert... | Juvenile Paget disease | c0268414 | 1,464 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2801 | 2021-01-23T18:45:29 | {"gard": ["2831"], "mesh": ["C537701"], "omim": ["239000"], "umls": ["C0268414"], "icd-10": ["M88.0", "M88.8", "M88.9"], "synonyms": ["Familial osteoectasia", "Hereditary hyperphosphatasia", "Hyperostosis corticalis deformans juvenilis", "JPG"]} |
Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.
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*[AA]: Adrenergic agonist
... | Beta-mannosidosis | c2931893 | 1,465 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=118 | 2021-01-23T18:56:50 | {"gard": ["869"], "mesh": ["D044905"], "omim": ["248510"], "umls": ["C0342849", "C2931893"], "icd-10": ["E77.1"], "synonyms": ["Beta-mannosidase deficiency"]} |
Bleeding from a laceration in the mucosa at the junction of the stomach and esophagus
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: "Mallory–Weiss syndrome" – news ·... | Mallory–Weiss syndrome | c0024633 | 1,466 | wikipedia | https://en.wikipedia.org/wiki/Mallory%E2%80%93Weiss_syndrome | 2021-01-18T18:58:53 | {"gard": ["6967"], "mesh": ["D008309"], "icd-9": ["530.7"], "icd-10": ["K22.6"], "wikidata": ["Q1632678"]} |
A number sign (#) is used with this entry because Chediak-Higashi syndrome (CHS) is caused by homozygous or compound heterozygous mutation in the lysosomal trafficking regulator gene (LYST; 606897) on chromosome 1q42.
Clinical Features
The features of Chediak-Higashi syndrome are decreased pigmentation of hair ... | CHEDIAK-HIGASHI SYNDROME | c0007965 | 1,467 | omim | https://www.omim.org/entry/214500 | 2019-09-22T16:29:47 | {"doid": ["2935"], "mesh": ["D002609"], "omim": ["214500"], "icd-10": ["E70.330", "D72.0"], "orphanet": ["167"], "genereviews": ["NBK5188"]} |
Secondary hyperparathyroidism
Other namesSHPT
Thyroid and parathyroid.
SpecialtyEndocrinology
Secondary hyperparathyroidism is the medical condition of excessive secretion of parathyroid hormone (PTH) by the parathyroid glands in response to hypocalcemia (low blood calcium levels), with resultant hyperplas... | Secondary hyperparathyroidism | c0020503 | 1,468 | wikipedia | https://en.wikipedia.org/wiki/Secondary_hyperparathyroidism | 2021-01-18T18:42:17 | {"mesh": ["D006962"], "umls": ["C0020503"], "icd-9": ["588.81", "252.02"], "icd-10": ["E21.1"], "wikidata": ["Q3622611"]} |
Throckmorton's reflex
Differential diagnosispyramidal tract lesions
Throckmorton's reflex is a clinical sign in which pressure over the dorsal side of the metatarsophalangeal joint of the big toe elicits a plantar reflex. It is found in patients with pyramidal tract lesions, and is one of a number of Babin... | Throckmorton's reflex | None | 1,469 | wikipedia | https://en.wikipedia.org/wiki/Throckmorton%27s_reflex | 2021-01-18T18:56:01 | {"wikidata": ["Q7798325"]} |
Genetic disorder
Hyperglycerolemia
SpecialtyMedical genetics
Hyperglycerolemia, also known as Glycerol kinase deficiency (GKD), is a genetic disorder where the enzyme glycerol kinase is deficient resulting in a build-up of glycerol in the body. Glycerol kinase is responsible for synthesizing triglycerides... | Hyperglycerolemia | c0574108 | 1,470 | wikipedia | https://en.wikipedia.org/wiki/Hyperglycerolemia | 2021-01-18T19:01:02 | {"gard": ["2807"], "mesh": ["C538138"], "orphanet": ["408"], "wikidata": ["Q17120992"]} |
Caffey disease is a bone disorder that most often occurs in babies. It is characterized by the excessive formation of new bone (hyperostosis) in the jaw, shoulder blades, collarbones, and shafts of long bones in the arms and legs. Affected bones may double or triple in width. In some cases, two bones that are next to... | Caffey disease | c0020497 | 1,471 | gard | https://rarediseases.info.nih.gov/diseases/1051/caffey-disease | 2021-01-18T18:01:40 | {"mesh": ["D006958"], "omim": ["114000"], "umls": ["C0020497"], "orphanet": ["1310"], "synonyms": ["Infantile cortical hyperostosis"]} |
A rare syndromic genetic deafness characterized by congenital hearing loss, atresia or stenosis of the external auditory canal, dilated internal auditory canal, malformation of the inner ear (incomplete separation of the cochlea basal turn from the fundus of the internal auditory canal), in combination with abnormal ... | X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome | None | 1,472 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=500188 | 2021-01-23T19:11:51 | {"omim": ["301018"]} |
Restrictive cardiomyopathy
Other namesObliterative cardiomyopathy, infiltrative cardiomyopathy, constrictive cardiomyopathy[1]
Micrograph of cardiac amyloidosis, a cause of restrictive cardiomyopathy. Congo red stain.
SpecialtyCardiology
Restrictive cardiomyopathy (RCM) is a form of cardiomyopathy in which... | Restrictive cardiomyopathy | c0007196 | 1,473 | wikipedia | https://en.wikipedia.org/wiki/Restrictive_cardiomyopathy | 2021-01-18T18:44:27 | {"mesh": ["D002313"], "umls": ["C0007196"], "icd-9": ["425.4"], "orphanet": ["75249", "217632"], "wikidata": ["Q2151267"]} |
## Description
The hairy ears trait consists of long hairs growing from the helix of the pinna; see Dronamraju (1964) and Stern et al. (1964).
Clinical Features
Stern and Tokunaga (1965) collected data on 261 adult Japanese males, aged 20 to 91 years, living in Japan or in California. Only a single man had ha... | HAIRY EARS | c0263482 | 1,474 | omim | https://www.omim.org/entry/139500 | 2019-09-22T16:40:27 | {"mesh": ["C562484"], "omim": ["139500"], "synonyms": ["Alternative titles", "HYPERTRICHOSIS PINNAE AURIS"]} |
A number sign (#) is used with this entry because benign familial neonatal seizures-2 (BFNS2) is caused by heterozygous mutation in the KCNQ3 gene (602232) on chromosome 8q24.
Description
Benign familial neonatal seizures-2 is an autosomal dominant neurologic condition characterized by onset of clonic or tonic-clon... | SEIZURES, BENIGN FAMILIAL NEONATAL, 2 | c0220669 | 1,475 | omim | https://www.omim.org/entry/121201 | 2019-09-22T16:42:56 | {"doid": ["14264"], "mesh": ["D020936"], "omim": ["121201"], "orphanet": ["1949"], "synonyms": ["Alternative titles", "CONVULSIONS, BENIGN FAMILIAL NEONATAL, 2"], "genereviews": ["NBK201978"]} |
GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult o... | GM1 gangliosidosis | c0085131 | 1,476 | gard | https://rarediseases.info.nih.gov/diseases/10891/gm1-gangliosidosis | 2021-01-18T18:00:16 | {"mesh": ["D016537"], "orphanet": ["354"], "synonyms": ["Beta galactosidase 1 deficiency", "GLB 1 deficiency", "Beta-galactosidosis"]} |
Heckenlively and Weleber (1986) described 2 families with a 'new' form of X-linked cone dystrophy characterized by a peculiar greenish-golden tapetal-like sheen of large areas of the retina; onset of symptoms in the third decade; gradual loss of vision with development of macular lesions in older patients; defective ... | CONE DYSTROPHY, X-LINKED, WITH TAPETAL-LIKE SHEEN | c0271092 | 1,477 | omim | https://www.omim.org/entry/304030 | 2019-09-22T16:18:28 | {"omim": ["304030"], "orphanet": ["1871"]} |
A number sign (#) is used with this entry because Joubert syndrome-17 (JBTS17) is caused by compound heterozygous mutation in the C5ORF42 gene (CPLANE1; 614571) on chromosome 5p13.
Mutation in the C5ORF42 gene can also cause orofaciodigital syndrome VI (OFD6; 277170), a disorder with overlapping features.
For a phe... | JOUBERT SYNDROME 17 | c3553264 | 1,478 | omim | https://www.omim.org/entry/614615 | 2019-09-22T15:54:41 | {"doid": ["0110986"], "omim": ["614615", "213300"], "orphanet": ["475"], "synonyms": ["CPD IV", "Cerebelloparenchymal disorder IV", "Classic Joubert syndrome", "Joubert syndrome type A", "Joubert-Boltshauser syndrome", "Pure Joubert syndrome"], "genereviews": ["NBK1325"]} |
## Clinical Features
Cramer (1947) and Ribble (1931) observed affected sisters, and Warr (1938) described parental consanguinity. The primary dentition was not affected and no associated abnormalities were noted.
Gorlin (1979) knew of at least 8 reports of complete absence of the permanent dentition with the entir... | ANODONTIA OF PERMANENT DENTITION | c0399352 | 1,479 | omim | https://www.omim.org/entry/206780 | 2019-09-22T16:30:56 | {"doid": ["13714"], "mesh": ["D000848"], "omim": ["206780"], "orphanet": ["99797"], "synonyms": ["Alternative titles", "TEETH, PERMANENT, ABSENCE OF"]} |
Neurologically-based disability beginning before adulthood
For disabilities caused by mental disorders, see Mental disorder § Disability.
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and remov... | Developmental disability | c0085996 | 1,480 | wikipedia | https://en.wikipedia.org/wiki/Developmental_disability | 2021-01-18T18:33:41 | {"mesh": ["D002658"], "wikidata": ["Q1142806"]} |
A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb.
## Epidemiology
Prevalence is unknown but around 1,000 cases have been reported in the literature so far.
## Clinica... | Angioosteohypertrophic syndrome | c0022739 | 1,481 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2346 | 2021-01-23T18:29:23 | {"gard": ["3122"], "mesh": ["D007715"], "omim": ["149000", "608354", "608355"], "umls": ["C0022739", "C2931360"], "icd-10": ["Q87.2"], "synonyms": ["Klippel-Trénaunay-Weber syndrome"]} |
Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial fol... | Ear-patella-short stature syndrome | c1868684 | 1,482 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2554 | 2021-01-23T19:02:49 | {"gard": ["2033"], "mesh": ["C538012"], "omim": ["224690", "613800", "613803", "613804", "613805", "616835", "617063"], "umls": ["C1868684"], "icd-10": ["Q87.1"], "synonyms": ["Meier-Gorlin syndrome"]} |
A number sign (#) is used with this entry because molybdenum cofactor deficiency of complementation group B (MOCODB) is caused by homozygous or compound heterozygous mutation in the MOCS2 gene (603708) on chromosome 5q11.
Description
Molybdenum cofactor deficiency is a rare autosomal recessive metabolic disorder ch... | MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B | c1854989 | 1,483 | omim | https://www.omim.org/entry/252160 | 2019-09-22T16:25:10 | {"doid": ["0111163"], "mesh": ["C565373"], "omim": ["252160"], "orphanet": ["833", "99732", "308393"], "synonyms": ["Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase", "MOCOD"]} |
Gastric erosion occurs when the mucous membrane lining the stomach becomes inflamed. Specifically, the term "erosion," in this context means damage that is limited to the mucosa (which consists of three distinct layers: The epithelium (in the case of a healthy stomach, this is non-ciliated simple columnar epithelium)... | Gastric erosion | c0341177 | 1,484 | wikipedia | https://en.wikipedia.org/wiki/Gastric_erosion | 2021-01-18T18:38:57 | {"umls": ["C0341177"], "wikidata": ["Q5526781"]} |
Adenine phosphoribosyltransferase deficiency
Other namesAPRT deficiency or 2,8 Dihydroxyadenine urolithiasis
Dihydroxyadenine, an insoluble purine
SpecialtyEndocrinology
Adenine phosphoribosyltransferase deficiency is an autosomal recessive[1] metabolic disorder associated with a mutation in the enzyme ade... | Adenine phosphoribosyltransferase deficiency | c0268120 | 1,485 | wikipedia | https://en.wikipedia.org/wiki/Adenine_phosphoribosyltransferase_deficiency | 2021-01-18T19:08:43 | {"gard": ["10666", "546"], "mesh": ["C538228"], "umls": ["C0268120", "C3665382"], "icd-9": ["277.2"], "icd-10": ["E79"], "orphanet": ["976"], "wikidata": ["Q4682223"]} |
A rare neuroendocrine tumor arising from chromaffin cells of the adrenal medulla (pheochromocytoma) or from sympathetic and parasympathetic ganglia (paraganglioma). These tumors are most often benign and may produce catecholamines in excess causing hypertension and sometimes severe acute cardiovascular complicati... | Pheochromocytoma-paraganglioma | None | 1,486 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=573163 | 2021-01-23T17:10:24 | {} |
For a general phenotypic description and a discussion of genetic heterogeneity of lung cancer, see 211980.
Mapping
In a genomewide association study of 3,259 patients with lung cancer and 4,159 controls, McKay et al. (2008) found a significant association between lung cancer and 2 SNPs, rs402710 and rs2736100 on ch... | LUNG CANCER SUSCEPTIBILITY 3 | c2675497 | 1,487 | omim | https://www.omim.org/entry/612571 | 2019-09-22T16:01:09 | {"omim": ["612571"], "synonyms": ["Alternative titles", "ADENOCARCINOMA OF LUNG, SUSCEPTIBILITY TO"]} |
Audioanalgesia
MeSHD001297
[edit on Wikidata]
Audioanalgesia (also known as audio-analgesia) is the relief of pain using white noise or music without using pharmacological agents while doing painful medical procedures such as dental treatments. It was first introduced by Gardner and Licklider in 1959.[1][... | Audioanalgesia | None | 1,488 | wikipedia | https://en.wikipedia.org/wiki/Audioanalgesia | 2021-01-18T19:09:00 | {"mesh": ["D001297"], "wikidata": ["Q4819894"]} |
Idiopathic pneumonia syndrome
SpecialtyPulmonology
Idiopathic pneumonia syndrome is a set of pneumonia-like symptoms that occur with no sign of infection in the lung. Idiopathic pneumonia syndrome is a serious condition that can occur after a stem cell transplant. It occurs between 2.2 and 15 percent of hemato... | Idiopathic pneumonia syndrome | c1504431 | 1,489 | wikipedia | https://en.wikipedia.org/wiki/Idiopathic_pneumonia_syndrome | 2021-01-18T19:05:07 | {"umls": ["C1504431"], "wikidata": ["Q5988895"]} |
Inflammatory condition of the retina of the eye
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. (January 2013) (Learn how and when to remove... | Multiple evanescent white dot syndrome | c0730322 | 1,490 | wikipedia | https://en.wikipedia.org/wiki/Multiple_evanescent_white_dot_syndrome | 2021-01-18T19:02:48 | {"umls": ["C0730322"], "wikidata": ["Q6934930"]} |
Multilocular cystic renal neoplasm of low malignant potential is a rare subtype of clear cell renal cell carcinoma with distinct pathological features of cysts lined by occasionally flattened cuboidal clear cells and septa containing aggregates of epithelial cells with clear cytoplasm, and excellent prognosis. Th... | Multilocular cystic renal neoplasm of low malignant potential | c0346249 | 1,491 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=319287 | 2021-01-23T17:52:39 | {"icd-10": ["C64"], "synonyms": ["MCRCC", "Multilocular clear cell adenocarcinoma", "Multilocular clear cell carcinoma", "Multilocular clear cell renal cell adenocarcinoma", "Multilocular clear cell renal cell carcinoma", "Multilocular cystic renal cell adenocarcinoma", "Multilocular cystic renal cell carcinoma"]} |
Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.
## Epidemiolo... | Benign adult familial myoclonic epilepsy | c1832841 | 1,492 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=86814 | 2021-01-23T19:08:50 | {"mesh": ["C563399"], "omim": ["601068", "607876", "613608", "615127", "615400"], "icd-10": ["G40.3"], "synonyms": ["ADCME", "Autosomal dominant cortical myoclonus and epilepsy", "BAFME", "Benign adult familial myoclonus epilepsy", "FAME", "FCMTE", "Familial adult myoclonic epilepsy", "Familial cortical myoclonic tremo... |
For other uses, see Piedra (disambiguation).
Piedra
Other namesTrichosporosis[1]:312
SpecialtyDermatology
Piedra is a hair disease caused by a fungus, which causes formation of nodules on the hair shaft.[2][3]
Types include:
* White piedra
* Black piedra
## References[edit]
1. ^ James, William D.;... | Piedra | c0031898 | 1,493 | wikipedia | https://en.wikipedia.org/wiki/Piedra | 2021-01-18T18:53:54 | {"mesh": ["D010854"], "icd-9": ["111.2", "111.3"], "wikidata": ["Q10863066"]} |
Familial hyperaldosteronism is a group of inherited conditions in which the adrenal glands, which are small glands located on top of each kidney, produce too much of the hormone aldosterone. Aldosterone helps control the amount of salt retained by the kidneys. Excess aldosterone causes the kidneys to retain more ... | Familial hyperaldosteronism | c1260386 | 1,494 | medlineplus | https://medlineplus.gov/genetics/condition/familial-hyperaldosteronism/ | 2021-01-27T08:25:17 | {"gard": ["2789", "12362", "2790"], "mesh": ["C563177"], "omim": ["103900", "605635", "613677"], "synonyms": []} |
A number sign (#) is used with this entry because dyschromatosis symmetrica hereditaria (DSH) is caused by heterozygous mutation in the DSRAD gene (ADAR; 146920) on chromosome 1q21.
Description
Dyschromatosis symmetrica hereditaria (DSH), also called symmetric dyschromatosis of the extremities and symmetric or reti... | DYSCHROMATOSIS SYMMETRICA HEREDITARIA | c0406775 | 1,495 | omim | https://www.omim.org/entry/127400 | 2019-09-22T16:42:05 | {"doid": ["0060257"], "mesh": ["C535729"], "omim": ["127400"], "orphanet": ["41"], "synonyms": ["Alternative titles", "DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1", "RETICULATE ACROPIGMENTATION OF DOHI", "SYMMETRIC DYSCHROMATOSIS OF THE EXTREMITIES"]} |
Central pontine myelinolysis
Other namesOsmotic demyelination syndrome, central pontine demyelination
Axial fat-saturated T2-weighted image showing hyperintensity in the pons with sparing of the peripheral fibers, the patient was an alcoholic admitted with a serum Na of 101 treated with hypertonic saline, he was ... | Central pontine myelinolysis | c0206083 | 1,496 | wikipedia | https://en.wikipedia.org/wiki/Central_pontine_myelinolysis | 2021-01-18T18:45:11 | {"gard": ["8749"], "mesh": ["D017590"], "umls": ["C0206083"], "wikidata": ["Q190370"]} |
For a phenotypic description and a discussion of genetic heterogeneity of malignant hyperthermia, see MHS1 (145600).
By linkage studies in 3 families, Sudbrak et al. (1993) excluded linkage either to chromosome 19 or 17q, thus suggesting the existence of a third locus for malignant hyperthermia susceptibility.
... | MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3 | c0024591 | 1,497 | omim | https://www.omim.org/entry/154276 | 2019-09-22T16:38:34 | {"mesh": ["D008305"], "omim": ["154276"], "orphanet": ["423"], "synonyms": ["Alternative titles", "MHS3"], "genereviews": ["NBK1146"]} |
Form of dwarfism that results in a smaller body size in all stages of life
Primordial dwarfism
SpecialtyMedical genetics
Primordial dwarfism (PD) is a form of dwarfism that results in a smaller body size in all stages of life beginning from before birth.[1] More specifically, primordial dwarfism is a diagnost... | Primordial dwarfism | c0342573 | 1,498 | wikipedia | https://en.wikipedia.org/wiki/Primordial_dwarfism | 2021-01-18T18:45:16 | {"mesh": ["C537404"], "icd-9": ["253.3"], "wikidata": ["Q2289761"]} |
A rare, genetic proximal spinal muscular atrophy characterized by degeneration of alpha motor neurons in the anterior horns of the spinal cord and lower brain stem manifesting with onset of progressive proximal muscle weakness (legs greater than arms) between 18 months and adulthood. Motor development is heteroge... | Proximal spinal muscular atrophy type 3 | c0152109 | 1,499 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=83419 | 2021-01-23T18:23:25 | {"gard": ["198"], "mesh": ["D014897"], "omim": ["253400"], "umls": ["C0152109"], "icd-10": ["G12.1"], "synonyms": ["Juvenile spinal muscular atrophy", "Kugelberg-Welander disease", "SMA type 3", "SMA type III", "SMA-III", "SMA3"]} |
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