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A rare, chronic, photodermatosis disease characterized by intensely pruritic, polymorphic, erythematous, excoriated and/or lichenified papules, macules, plaques and nodules, occurring on sun-exposed areas of the skin (particularly face, nose, lips, and ears), frequently associating cheilitis (especially of the lower ... | Actinic prurigo | c0406217 | 6,000 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=330061 | 2021-01-23T18:45:24 | {"mesh": ["C566780"], "omim": ["174770"], "umls": ["C0406217"], "icd-10": ["L56.4"], "synonyms": ["Familial polymorphous light eruption of American Indians", "Hereditary polymorphous light eruption of American Indians", "Hutchinson summer prurigo", "Hydroa aestivale"]} |
Froyshov Larsen et al. (1978) described a new syndrome in 6 females in 2 sibships with a high degree of consanguinity and a male in another family. The syndrome consisted of total colorblindness from progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, 'maturity-onset dia... | RETINOHEPATOENDOCRINOLOGIC SYNDROME | c1849399 | 6,001 | omim | https://www.omim.org/entry/268040 | 2019-09-22T16:22:41 | {"mesh": ["C564839"], "omim": ["268040"], "orphanet": ["3087"], "synonyms": ["Alternative titles", "RHE SYNDROME"]} |
"In-toe" redirects here. For the process of pulling something, see Towing. For the surfing technique, see Tow-in surfing. For the automotive term, see Toe (automotive).
Pigeon toe
Other namesMetatarsuhnvarus, metatarsus adductus, in-toe gait, intoeing, false clubfoot
SpecialtyPediatrics, orthopedics
Pigeon ... | Pigeon toe | c0231791 | 6,002 | wikipedia | https://en.wikipedia.org/wiki/Pigeon_toe | 2021-01-18T18:31:24 | {"gard": ["3570"], "mesh": ["D000070592"], "umls": ["C0231791", "C4082169"], "icd-9": ["754.53"], "icd-10": ["Q66.2"], "wikidata": ["Q1524166"]} |
A number sign (#) is used with this entry because poor metabolism of efavirenz and susceptibility to efavirenz central nervous system (CNS) toxicity are associated with variation in the CYP2B6 gene (123930) on chromosome 19q13.2.
Description
Highly active antiretroviral therapy (HAART) has reduced mortality ass... | EFAVIRENZ, POOR METABOLISM OF | c3281154 | 6,003 | omim | https://www.omim.org/entry/614546 | 2019-09-22T15:54:53 | {"omim": ["614546"], "orphanet": ["240869"], "synonyms": []} |
Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of ... | X-linked intellectual disability, Najm type | c2677903 | 6,004 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=163937 | 2021-01-23T17:33:13 | {"gard": ["12669"], "mesh": ["C567466"], "omim": ["300749"], "umls": ["C2677903"], "icd-10": ["Q04.3"], "synonyms": ["MICPCH", "X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome"]} |
Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth... | Dysmorphism-short stature-deafness-disorder of sex development syndrome | None | 6,005 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2282 | 2021-01-23T18:09:34 | {"icd-10": ["Q87.8"], "synonyms": ["Dysmorphism-short stature-hearing loss-disorder of sex development syndrome", "Ieshima-Koeda-Inagaki syndrome"]} |
Seller et al. (1996) described a sporadic case of lethal chondrodysplasia in a male fetus born of first-cousin Caucasian parents. The fetus manifested an absence of ossification of the skull vault and vertebral bodies in the cervical and thoracic regions, platyspondyly in the lumbar region, and short angulated ulnae,... | CHONDRODYSPLASIA, LETHAL, WITH LONG BONE ANGULATION AND MIXED BONE DENSITY | c1832410 | 6,006 | omim | https://www.omim.org/entry/601376 | 2019-09-22T16:14:56 | {"mesh": ["C563330"], "omim": ["601376"]} |
Vincent van Gogh, Self-Portrait with Bandaged Ear (1889), Courtauld Institute of Art, London
Van Gogh syndrome is a mental condition in which an adult performs self-mutilations. It usually happens on the ground of a specific psychiatric condition.[1][2] The term is derived from the action of Vincent van Gogh in 1888... | Van Gogh syndrome | None | 6,007 | wikipedia | https://en.wikipedia.org/wiki/Van_Gogh_syndrome | 2021-01-18T18:50:30 | {"wikidata": ["Q4420118"]} |
Abortion in New Mexico is legal. 51% of adults said in a poll by the Pew Research Center that abortion should be legal in all or most cases.
The number of abortion clinics in New Mexico has declined over the years, with 26 in 1982, twenty in 1992 and eleven in 2014. There were 4,500 legal abortions in 2014.
## Cont... | Abortion in New Mexico | None | 6,008 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_New_Mexico | 2021-01-18T18:58:01 | {"wikidata": ["Q64876944"]} |
For a discussion of autoimmunity, see 109100. See also vitiligo (606579).
Mapping
Alkhateeb et al. (2002) estimated that, in 23% of cases, vitiligo is associated with other autoimmune disorders, particularly autoimmune thyroid disease, pernicious anemia (170900), systemic lupus erythematosus (152700), and Addis... | AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 2 | c1842113 | 6,009 | omim | https://www.omim.org/entry/608391 | 2019-09-22T16:07:53 | {"omim": ["608391"], "synonyms": ["Alternative titles", "VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 3", "AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 7-RELATED"]} |
Spondylometaphyseal dysplasia, 'corner fracture' type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).
## Epidemiology
Less than 30 patients h... | Spondylometaphyseal dysplasia, 'corner fracture' type | c0432221 | 6,010 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93315 | 2021-01-23T16:58:11 | {"gard": ["4991"], "mesh": ["C535793"], "omim": ["184255"], "umls": ["C0432221"], "icd-10": ["Q77.8"], "synonyms": ["Spondylometaphyseal dysplasia, Sutcliffe type"]} |
Frontotemporal dementias (FTDs) are a group of neurodegenerative disorders associated with shrinking of the frontal and temporal anterior lobes of the brain. Symptoms include marked changes in social behavior and personality, and/or problems with language. People with behavior changes may have disinhibition (with soc... | Frontotemporal dementia | c0338451 | 6,011 | gard | https://rarediseases.info.nih.gov/diseases/8436/frontotemporal-dementia | 2021-01-18T18:00:24 | {"mesh": ["D057180"], "omim": ["600274"], "orphanet": ["282"], "synonyms": ["Dementia, frontotemporal, with parkinsonism", "Frontotemporal dementia with parkinsonism", "Frontotemporal lobe dementia (FLDEM)", "MSTD", "Multiple system tauopathy with presenile dementia", "FTD"]} |
A number sign (#) is used with this entry because of evidence that early-onset epileptic encephalopathy-25 (EIEE25) is caused by homozygous or compound heterozygous mutation in the SLC13A5 gene (608305) on chromosome 17p13.
The disorder shows phenotypic similarities to Kohlschutter-Tonz syndrome (KTZS; 226750), whic... | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA | c4014621 | 6,012 | omim | https://www.omim.org/entry/615905 | 2019-09-22T15:50:44 | {"doid": ["0080453"], "omim": ["615905"], "orphanet": ["442835"], "synonyms": ["Undetermined EOEE"]} |
Cervical dystonia is a neurological condition characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head (dystonia). Most commonly, the head turns to one side or the other. Tilting sideways, or to the back or front may also occur. The turning or tilting move... | Cervical dystonia | c0949445 | 6,013 | gard | https://rarediseases.info.nih.gov/diseases/10668/cervical-dystonia | 2021-01-18T18:01:32 | {"mesh": ["D014103"], "umls": ["C0949445"], "synonyms": ["Spasmodic torticollis"]} |
A number sign (#) is used with this entry because some cases of idiopathic pulmonary fibrosis (IPF) are caused by heterozygous mutation in the SFTPA2 gene (178642), encoding pulmonary surfactant protein A2, on chromosome 10q22.
Evidence suggests that susceptibility to the disease may also be conferred by a polymorph... | PULMONARY FIBROSIS, IDIOPATHIC | c0085786 | 6,014 | omim | https://www.omim.org/entry/178500 | 2019-09-22T16:35:24 | {"doid": ["0050156"], "mesh": ["D011658"], "omim": ["178500"], "icd-9": ["516.31"], "icd-10": ["J84.112"], "orphanet": ["2032", "79126"], "synonyms": ["Alternative titles", "IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL", "FIBROSING ALVEOLITIS, CRYPTOGENIC", "FIBROCYSTIC PULMONARY DYSPLASIA", "INTERSTITIAL PNEUMONITIS, USUAL... |
This designation may be appropriate for the malformation syndrome described by Sakati et al. (1971) in a single male. The calvaria was large and the face disproportionately small. All cranial sutures were fused. The ears were dysplastic and low-set. Maxillary hypoplasia, dental crowding, prognathism and short neck wi... | ACROCEPHALOPOLYSYNDACTYLY TYPE III | c1275079 | 6,015 | omim | https://www.omim.org/entry/101120 | 2019-09-22T16:45:29 | {"doid": ["0060359"], "mesh": ["C537227"], "omim": ["101120"], "synonyms": ["Alternative titles", "ACPS III", "ACPS WITH LEG HYPOPLASIA", "SAKATI-NYHAN SYNDROME"]} |
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Find sources: "Achlorhydria" – news · newspapers · books · scholar · JSTOR (February 2013) (Learn how and when to remove this template... | Achlorhydria | c0001075 | 6,016 | wikipedia | https://en.wikipedia.org/wiki/Achlorhydria | 2021-01-18T18:41:13 | {"mesh": ["D000126"], "umls": ["C0001075"], "icd-9": ["536.0"], "icd-10": ["K31.8"], "wikidata": ["Q340548"]} |
A goldfish with fish dropsy
Dropsy is a disease in fish caused by the buildup of fluid inside the body cavity or tissues. As a symptom rather than a disease, it can indicate a number of underlying diseases, including bacterial infections, parasitic infections, or liver dysfunction.[1]
## Treatment[edit]
Becaus... | Dropsy (fish disease) | None | 6,017 | wikipedia | https://en.wikipedia.org/wiki/Dropsy_(fish_disease) | 2021-01-18T19:01:20 | {"wikidata": ["Q8563411"]} |
A number sign (#) is used with this entry because VKCFD2 is caused by homozygous mutation in the VKORC1 gene (608547), which encodes vitamin K epoxide reductase, on chromosome 16p11.
For a general phenotypic description and a discussion of genetic heterogeneity of combined deficiency of vitamin K-dependent clott... | VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 | c1848534 | 6,018 | omim | https://www.omim.org/entry/607473 | 2019-09-22T16:09:16 | {"mesh": ["C564741"], "omim": ["607473"], "orphanet": ["98434"]} |
A number sign (#) is used with this entry because of evidence that dosage-sensitive sex reversal is due to duplication of the DAX1 gene (NR0B1; 300473) on chromosome Xp21.3-p21.2.
For a discussion of genetic heterogeneity of 46,XY sex reversal, see SRXY1 (400044).
Clinical Features
The existence of an X-specific g... | 46,XY SEX REVERSAL 2 | c2936694 | 6,019 | omim | https://www.omim.org/entry/300018 | 2019-09-22T16:20:58 | {"doid": ["14448"], "mesh": ["D006061"], "omim": ["300018"], "orphanet": ["242", "251510"], "synonyms": ["Alternative titles", "46,XY SEX REVERSAL, DAX1-RELATED", "DOSAGE-SENSITIVE SEX REVERSAL"]} |
A number sign (#) is used with this entry because of evidence that holoprosencephaly-2 (HPE2) is caused by heterozygous mutation in the homeobox-containing SIX3 gene (603714) on chromosome 2p21.
For phenotypic information and a general discussion of genetic heterogeneity in holoprosencephaly, see HPE1 (236100).
Cli... | HOLOPROSENCEPHALY 2 | c0751617 | 6,020 | omim | https://www.omim.org/entry/157170 | 2019-09-22T16:38:10 | {"doid": ["0110872"], "mesh": ["D016142"], "omim": ["157170"], "orphanet": ["93926", "280195", "220386", "93925", "280200", "93924", "2162"], "synonyms": ["MIH type HPE", "Middle interhemispheric fusion variant", "MIH", "Syntelencephaly", "Middle interhemispheric variant of holoprosencephaly", "MIHF", "Septopreoptic HP... |
Cerebral contusion
CT scan showing cerebral contusions, hemorrhage within the hemispheres, subdural hematoma on the left, and skull fractures[1]
SpecialtyEmergency medicine
Cerebral contusion, Latin contusio cerebri, a form of traumatic brain injury, is a bruise of the brain tissue.[2] Like bruises in other ... | Cerebral contusion | c0149844 | 6,021 | wikipedia | https://en.wikipedia.org/wiki/Cerebral_contusion | 2021-01-18T18:46:01 | {"mesh": ["D000070624"], "umls": ["C0149844"], "icd-9": ["851"], "icd-10": ["S06.3", "S06.2"], "wikidata": ["Q591639"]} |
A form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence (or mild intellectual disability).
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... | POMT2-related limb-girdle muscular dystrophy R14 | c3150418 | 6,022 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=206559 | 2021-01-23T17:53:27 | {"gard": ["12539"], "omim": ["613158"], "icd-10": ["G71.0"], "synonyms": ["Autosomal recessive limb-girdle muscular dystrophy type 2N", "LGMD type 2N", "LGMD2N", "Limb-girdle muscular dystrophy type 2N", "POMT2-related LGMD R14"]} |
A rare hepatic disease characterized by the features of classic autoimmune hepatitis (i. e. clinical presentation as acute or chronic cryptogenic hepatitis, interface hepatitis on histological examination, elevated serum aspartate aminotransferase and alanine aminotransferase levels, therapeutic response to corticost... | Seronegative autoimmune hepatitis | None | 6,023 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=563589 | 2021-01-23T17:12:40 | {"synonyms": ["Autoantibody-negative autoimmune hepatitis", "Seronegative AIH"]} |
Coccidioidomycosis is a fungal infection caused by Coccidioides immitis and C. posadasii, which is endemic to the Southwestern United States, Central America, South America and Mexico, and is acquired by inhalation of the infective arthroconidia, often found in soil. In most cases it is a benign, self-limiting febril... | Coccidioidomycosis | c0009186 | 6,024 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=228123 | 2021-01-23T19:00:53 | {"gard": ["9525"], "mesh": ["D003047"], "umls": ["C0009186", "C0153257", "C0851907"], "icd-10": ["B38.0", "B38.1", "B38.2", "B38.3", "B38.4", "B38.7", "B38.8", "B38.9"], "synonyms": ["California disease", "Coccidioides infection", "Desert fever", "Desert rheumatism", "San Joaquin valley fever", "Valley fever"]} |
## Summary
### Clinical characteristics.
Williams syndrome (WS) is characterized by cardiovascular disease (elastin arteriopathy, peripheral pulmonary stenosis, supravalvar aortic stenosis, hypertension), distinctive facies, connective tissue abnormalities, intellectual disability (usually mild), a specific cogniti... | Williams Syndrome | c0175702 | 6,025 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1249/ | 2021-01-18T20:49:33 | {"mesh": ["D018980"], "synonyms": ["Williams-Beuren Syndrome"]} |
Not to be confused with Carney complex or Carney-Stratakis syndrome.
Carney triad (CT) is characterized by the coexistence of three types of neoplasms, mainly in young women,[1] including gastric gastrointestinal stromal tumor, pulmonary chondroma, and extra-adrenal paraganglioma.[2] The underlying genetic defect re... | Carney's triad | c1858592 | 6,026 | wikipedia | https://en.wikipedia.org/wiki/Carney%27s_triad | 2021-01-18T18:51:33 | {"gard": ["10924"], "mesh": ["C565803"], "umls": ["C1858592"], "orphanet": ["139411"], "wikidata": ["Q5044023"]} |
8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, ... | 8p23.1 duplication syndrome | c4707330 | 6,027 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251076 | 2021-01-23T19:06:34 | {"gard": ["10304"], "icd-10": ["Q92.3"], "synonyms": ["Dup(8)(p23.1p23.1)", "Trisomy 8p23.1"]} |
Abortion in the Czech Republic is legally allowed up to 12 weeks of pregnancy, with medical indications up to 24 weeks of pregnancy, in case of grave problems with the fetus at any time. Those performed for medical indications are covered by public health insurance, but, otherwise abortion is relatively affordable in... | Abortion in the Czech Republic | None | 6,028 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_the_Czech_Republic | 2021-01-18T18:50:00 | {"wikidata": ["Q2811855"]} |
Signs and symptoms due to benzodiazepines discontinuation in physically dependent persons
Benzodiazepine withdrawal syndrome
Other namesBenzo withdrawal
Diazepam is sometimes used in the treatment of benzodiazepine withdrawal.[1]
SpecialtyPsychiatry
Benzodiazepines
The core structure of benzodiazepi... | Benzodiazepine withdrawal syndrome | None | 6,029 | wikipedia | https://en.wikipedia.org/wiki/Benzodiazepine_withdrawal_syndrome | 2021-01-18T18:28:05 | {"icd-10": ["F13"], "wikidata": ["Q6119887"]} |
Superficial siderosis
Other namesSuperficial siderosis of the CNS, Superficial hemosiderosis of the CNS, Superficial hemosiderosis of the central nervous system
MRI showing pulsations of CSF (normal individual)
Superficial hemosiderosis of the central nervous system is a disease of the brain resulting fr... | Superficial siderosis | None | 6,030 | wikipedia | https://en.wikipedia.org/wiki/Superficial_siderosis | 2021-01-18T18:54:18 | {"gard": ["9484"], "orphanet": ["247245"], "synonyms": ["Hemosiderosis of the central nervous system", "Superficial hemosiderosis of the CNS", "Superficial hemosiderosis of the central nervous system", "Superficial siderosis of the CNS", "Superficial siderosis of the central nervous system"], "wikidata": ["Q7643329"]} |
## Description
High density lipoproteins (HDLs) are antiatherogenic lipoproteins that have a major role in transporting cholesterol from peripheral tissues to the liver, where it is removed. Epidemiologic studies show that low levels of high density lipoprotein cholesterol (HDLC; see 604091) are associated with... | HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1 | c1847758 | 6,031 | omim | https://www.omim.org/entry/606613 | 2019-09-22T16:10:18 | {"omim": ["606613"], "synonyms": ["Alternative titles", "HDLC1"]} |
Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia.
*[v]: View this template
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*[c.]: circa
*[AA]: Adrenergic agonist
*[A... | Glanzmann thrombasthenia | c0040015 | 6,032 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=849 | 2021-01-23T18:39:25 | {"gard": ["2478"], "mesh": ["D013915"], "omim": ["273800"], "umls": ["C0040015"], "icd-10": ["D69.1"]} |
Granular cell tumor
2-cm tumor presented as an abdominal wall mass in a middle-aged woman
SpecialtyOncology
Histopathologic image of granular cell tumor of the skin
Granular cell tumor is a tumor that can develop on any skin or mucosal surface, but occurs on the tongue 40% of the time.
It is also known as ... | Granular cell tumor | c0085167 | 6,033 | wikipedia | https://en.wikipedia.org/wiki/Granular_cell_tumor | 2021-01-18T19:05:23 | {"gard": ["9618"], "mesh": ["D016586"], "umls": ["C0085167"], "icd-10": ["D36.1"], "wikidata": ["Q940874"]} |
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Find sources: "Digestive system neoplasm" – news · newspapers · books · scholar · JSTOR (December 2020) (Learn how and when to remove this template ... | Digestive system neoplasm | c0012243 | 6,034 | wikipedia | https://en.wikipedia.org/wiki/Digestive_system_neoplasm | 2021-01-18T18:30:20 | {"mesh": ["D004067"], "icd-10": ["D13", "C15", "D12", "C26"], "wikidata": ["Q5275615"]} |
For the medical journal, see Experimental Neurology.
Central nervous system disease
Neurodegeneration
Para-sagittal MRI of the head in a patient with benign familial macrocephaly
SpecialtyNeurology, Psychiatry
Neurodegeneration is the progressive loss of structure or function of neurons, including thei... | Neurodegeneration | c0524851 | 6,035 | wikipedia | https://en.wikipedia.org/wiki/Neurodegeneration | 2021-01-18T18:54:54 | {"mesh": ["D019636"], "umls": ["C0524851"], "orphanet": ["182070"], "wikidata": ["Q1755122"]} |
Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.
## Epidemiology
Prevalence is unknown. Approximately 40 cases have been reported to date. IFAP primarily affects male subjects. Female c... | Ichthyosis follicularis-alopecia-photophobia syndrome | c1839988 | 6,036 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2273 | 2021-01-23T18:25:39 | {"gard": ["2952"], "mesh": ["C536085"], "omim": ["308205"], "umls": ["C1839988"], "synonyms": ["IFAP syndrome", "Ichthyosis follicularis-atrichia-photophobia syndrome"]} |
A number sign (#) is used with this entry because complete erythrocyte AMP deaminase deficiency is caused by homozygous mutation in the AMPD3 gene (102772) on chromosome 11p15.
Description
Complete deficiency of erythrocyte AMP deaminase is a clinically benign disorder (Ogasawara et al., 1987; Zydowo et al., 1989).... | ERYTHROCYTE AMP DEAMINASE DEFICIENCY | c0268123 | 6,037 | omim | https://www.omim.org/entry/612874 | 2019-09-22T16:00:26 | {"omim": ["612874"], "orphanet": ["45"]} |
## Clinical Features
Macrocytosis (large erythrocytes) is commonly associated with anemia and megaloblastosis in vitamin B12 or folate deficiency, cytotoxic drug treatment, and genetic disorders such as orotic aciduria (258900), Imerslund-Grasbeck syndrome (261100), and Lesch-Nyhan syndrome (308000). Nonmegaloblast... | MACROCYTOSIS, FAMILIAL | c1838656 | 6,038 | omim | https://www.omim.org/entry/600084 | 2019-09-22T16:16:40 | {"mesh": ["C564004"], "omim": ["600084"]} |
## Summary
### Clinical characteristics.
SLC12A5-related epilepsy of infancy with migrating focal seizures (SLC12A5-EIMFS), reported to date in nine children, is characterized by onset of seizures before age six months and either developmental delay or developmental regression with seizure onset. Of these nine chil... | SLC12A5-Related Epilepsy of Infancy with Migrating Focal Seizures | None | 6,039 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK537476/ | 2021-01-18T20:58:45 | {"synonyms": ["Early-Infantile Epileptic Encephalopathy 34 (EIEE34)", "SLC12A5-EIMFS"]} |
A number sign (#) is used with this entry because familial hypertrophic cardiomyopathy-6 (CMH6) is caused by heterozygous mutation in the gene encoding the gamma-2 regulatory subunit of AMP-activated protein kinase (PRKAG2; 602743) on chromosome 7q36.
Mutation in the PRKAG2 gene also causes the Wolff-Parkinson-White... | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 | c1833236 | 6,040 | omim | https://www.omim.org/entry/600858 | 2019-09-22T16:15:46 | {"mesh": ["C563436"], "omim": ["600858"], "genereviews": ["NBK1768"]} |
Zimmermann–Laband syndrome
Other namesLaband–Zimmermann syndrome,[1] and Laband's syndrome[2]
Zimmerman–Laband syndrome has an autosomal dominant pattern of inheritance
SpecialtyMedical genetics
Zimmermann–Laband syndrome (ZLS),[3] is an extremely rare[4] autosomal dominant[5] congenital disorder.
## Cont... | Zimmermann–Laband syndrome | c0796013 | 6,041 | wikipedia | https://en.wikipedia.org/wiki/Zimmermann%E2%80%93Laband_syndrome | 2021-01-18T18:55:49 | {"gard": ["385"], "mesh": ["C536725"], "umls": ["C0796013"], "icd-10": ["Q87.8"], "orphanet": ["3473"], "wikidata": ["Q8072143"]} |
Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial wea... | Limb-girdle muscular dystrophy due to POMK deficiency | c4015184 | 6,042 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=445110 | 2021-01-23T17:53:11 | {"omim": ["616094"], "icd-10": ["G71.0"], "synonyms": ["LGMD due to POMK deficiency"]} |
Blum et al. (1993) described a newborn with congenital absence of the insulin-producing beta cells from otherwise normal-appearing pancreatic islets, causing insulin-dependent diabetes mellitus. The infant also had methylmalonic acidemia (251000) and died 16 days after birth. By serotyping of the HLA antigens, DNA ty... | PANCREATIC BETA CELL AGENESIS WITH NEONATAL DIABETES MELLITUS | c1838655 | 6,043 | omim | https://www.omim.org/entry/600089 | 2019-09-22T16:16:39 | {"mesh": ["C538111"], "omim": ["600089"]} |
Excoriation disorder
Other namesdermatillomania,[1] skinning disorder, neurotic excoriation, acne excoriee, pathologic skin picking (PSP), compulsive skin picking (CSP), psychogenic excoriation[2][3]
Image of person with excoriation disorder with sores as a result of skin picking on arms, shoulders and chest
Sp... | Excoriation disorder | c1696701 | 6,044 | wikipedia | https://en.wikipedia.org/wiki/Excoriation_disorder | 2021-01-18T19:06:00 | {"umls": ["C1696701"], "icd-9": ["312.3"], "icd-10": ["L98.1"], "wikidata": ["Q904200"]} |
A rare aortic arch defect characterized by variable degrees of dysphagia due to compression of the esophagus from an aberrant right subclavian artery (arteria lusoria), which arises as the fourth branch, distal to the left subclavian artery, from the aortic arch. In most cases, the aberrant vessel then passes pos... | Dysphagia lusoria | c0267073 | 6,045 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99082 | 2021-01-23T17:41:09 | {"umls": ["C0267073"], "icd-10": ["Q25.4"]} |
Schatzki ring
Endoscopic image of Schatzki ring, seen in the esophagus with the gastro-esophageal junction in the background.
SpecialtyMedical genetics
A Schatzki ring or Schatzki–Gary ring is a narrowing of the lower esophagus that can cause difficulty swallowing (dysphagia). The narrowing is caused by a ri... | Schatzki ring | c0341137 | 6,046 | wikipedia | https://en.wikipedia.org/wiki/Schatzki_ring | 2021-01-18T18:56:02 | {"mesh": ["C562765"], "umls": ["C0341137"], "icd-9": ["750.3", "530.3"], "icd-10": ["Q39.3", "K22.2"], "wikidata": ["Q628052"]} |
Johnston and Green (1965) presented 5 cases of which 2 were black brother and sister. Chromosome studies were normal. The parents and 5 other sibs appeared to be unaffected. Two sibs died in early infancy. In one, mongolism was diagnosed. Although bronchopulmonary suppuration largely determines the degree of resp... | TRACHEOBRONCHOMEGALY | c0040587 | 6,047 | omim | https://www.omim.org/entry/275300 | 2019-09-22T16:21:36 | {"mesh": ["D014137"], "omim": ["275300"], "orphanet": ["3347"]} |
A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominently located on the face, ears, neck and trunk, not associated with systemic organ involvement, associated malignancies or FLCN gene locus mutation.
*[v]: View this templ... | Familial multiple discoid fibromas | c1860850 | 6,048 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=538756 | 2021-01-23T18:48:36 | {"mesh": ["C536847"], "omim": ["190340"], "icd-10": ["D23.2"], "synonyms": ["Familial multiple trichodiscomas"]} |
Plasmablastic lymphoma is an aggressive form of non-Hodgkin lymphoma. Although the condition most commonly occurs in the oral cavity, it can be diagnosed in many other parts of the body such as the gastrointestinal tract, lymph nodes, and skin. The exact underlying cause of plasmablastic lymphoma is poorly understood... | Plasmablastic lymphoma | c3472614 | 6,049 | gard | https://rarediseases.info.nih.gov/diseases/12125/plasmablastic-lymphoma | 2021-01-18T17:58:17 | {"mesh": ["D000069293"], "orphanet": ["289666"], "synonyms": []} |
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This article relies too much on references to primary sources. Please improve this by adding secondary or tertiary sources. (May 2015) (Learn how and when to remov... | Anterior cutaneous nerve entrapment syndrome | c0702166 | 6,050 | wikipedia | https://en.wikipedia.org/wiki/Anterior_cutaneous_nerve_entrapment_syndrome | 2021-01-18T18:55:40 | {"mesh": ["D000152"], "icd-10": ["G58.0"], "orphanet": ["51890"], "synonyms": ["ACNES", "Intercostal nerve syndrome", "Rectus abdominis syndrome"], "wikidata": ["Q19765925"]} |
A number sign (#) is used with this entry because parietal foramina-1 (PFM1) is caused by heterozygous mutation in the MSX2 gene (123101) on chromosome 5q35.
Description
Parietal foramina are symmetric, oval defects in the parietal bone situated on each side of the sagittal suture and separated from each other by a... | PARIETAL FORAMINA 1 | c1868598 | 6,051 | omim | https://www.omim.org/entry/168500 | 2019-09-22T16:36:34 | {"doid": ["0060285"], "mesh": ["C566826"], "omim": ["168500"], "orphanet": ["60015"], "synonyms": ["Alternative titles", "PFM", "PARIETAL FORAMINA, SYMMETRIC", "FORAMINA PARIETALIA PERMAGNA", "CATLIN MARKS", "CRANIUM BIFIDUM OCCULTUM", "CRANIUM BIFIDUM, HEREDITARY"], "genereviews": ["NBK1128"]} |
Auditory processing disorder
Other namesCentral auditory processing disorder
SpecialtyAudiology, neurology[1]
Auditory processing disorder (APD), rarely known as King-Kopetzky syndrome or auditory disability with normal hearing (ADN), is an umbrella term for a variety of disorders that affect the way the bra... | Auditory processing disorder | c0004310 | 6,052 | wikipedia | https://en.wikipedia.org/wiki/Auditory_processing_disorder | 2021-01-18T19:00:28 | {"mesh": ["D001308"], "icd-9": ["388.40", "388.45"], "icd-10": ["H93.25"], "wikidata": ["Q433152"]} |
Partial pulmonary venous return (PAPVR) is a form of congenital pulmonary venous return (see this term) where one or a few of the pulmonary veins drain into the right atrium or one of its tributaries instead of the left atrium. Some patients can be asymptomatic while others can manifest with non-specific signs su... | Congenital partial pulmonary venous return anomaly | c0158634 | 6,053 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99124 | 2021-01-23T17:01:34 | {"umls": ["C0158634"], "icd-10": ["Q26.3"]} |
Wooden chest syndrome is a rigidity of the chest following the administration of high doses of opioids during anaesthesia.[1]
Wooden chest syndrome describes marked muscle rigidity — especially involving the thoracic and abdominal muscles — that is an occasional adverse effect associated with the intravenous adminis... | Wooden chest syndrome | None | 6,054 | wikipedia | https://en.wikipedia.org/wiki/Wooden_chest_syndrome | 2021-01-18T18:34:32 | {"wikidata": ["Q16873382"]} |
Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, with susceptibility to mycobacteria, such as the vaccine against tuberculosis (bacillus Calmette-Guérin (BCG) and environmental mycobacteria. It is characterized by severe, recurrent infections, either systemic (widespr... | Mendelian susceptibility to mycobacterial diseases | c3266863 | 6,055 | gard | https://rarediseases.info.nih.gov/diseases/12977/mendelian-susceptibility-to-mycobacterial-diseases | 2021-01-18T17:59:09 | {"mesh": ["D009165"], "orphanet": ["748"], "synonyms": ["Idiopathic infection caused by BCG or atypical mycobacteria", "Mendelian susceptibility to atypical mycobacteria", "Mendelian susceptibility to mycobacterial diseases", "Mendelian susceptibility to mycobacterial infections", "MSMD"]} |
Rare psychological or neurological condition
Athymhormic syndrome
SpecialtyPsychiatry
Athymhormic syndrome (from Ancient Greek θυμός thūmós, "mood" or "affect", and hormḗ, "impulse", "drive" or "appetite"), psychic akinesia, or auto-activation deficit (AAD) is a rare psychopathological and neurological syndro... | Athymhormic syndrome | None | 6,056 | wikipedia | https://en.wikipedia.org/wiki/Athymhormic_syndrome | 2021-01-18T19:05:39 | {"wikidata": ["Q4815725"]} |
Eosinophilic cystitis
SpecialtyUrology
Eosinophilic cystitis is a rare condition where eosinophiles are present in the bladder wall.[1] Signs and symptoms are similar to a bladder infection.[1] Its cause is not entirely clear; however, may be linked to food allergies, infections, and medications among others.[... | Eosinophilic cystitis | c0742965 | 6,057 | wikipedia | https://en.wikipedia.org/wiki/Eosinophilic_cystitis | 2021-01-18T18:30:16 | {"gard": ["6346", "6347"], "umls": ["C0742965"], "wikidata": ["Q16969155"]} |
BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (see this term) (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilat... | BNAR syndrome | c2750433 | 6,058 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=217266 | 2021-01-23T18:53:40 | {"gard": ["10595"], "mesh": ["C567672"], "omim": ["608980"], "umls": ["C2750433"], "icd-10": ["Q87.8"], "synonyms": ["Bifid nose with or without anorectal and renal anomalies"]} |
A number sign (#) is used with this entry because of evidence that glucocorticoid deficiency-5 (GCCD5) is caused by homozygous mutation in the TXNRD2 gene (606448) on chromosome 22q11. One such family has been reported.
Description
Familial glucocorticoid deficiency-5 is characterized by resistance to adrenocortico... | GLUCOCORTICOID DEFICIENCY 5 | c4049650 | 6,059 | omim | https://www.omim.org/entry/617825 | 2019-09-22T15:44:41 | {"mesh": ["C565974"], "omim": ["202200", "617825"], "orphanet": ["361"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that Salih myopathy (SALMY), also known as early-onset myopathy with fatal cardiomyopathy (EOMFC), is caused by homozygous or compound heterozygous mutation in the gene encoding titin (TTN; 188840) on chromosome 2q31.
Clinical Features
Carmignac et al. (... | SALIH MYOPATHY | c2673677 | 6,060 | omim | https://www.omim.org/entry/611705 | 2019-09-22T16:03:03 | {"mesh": ["C567129"], "omim": ["611705"], "orphanet": ["289377"], "synonyms": ["Alternative titles", "MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY"], "genereviews": ["NBK83297"]} |
Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature... | Rothmund-Thomson syndrome | c0032339 | 6,061 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2909 | 2021-01-23T17:07:45 | {"gard": ["4392"], "mesh": ["D011038"], "omim": ["268400"], "umls": ["C0032339"], "icd-10": ["Q82.8"], "synonyms": ["Poikiloderma of Rothmund-Thomson", "RTS"]} |
Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.
## Epidemiology
Prevalence of MPS2 at birth... | Mucopolysaccharidosis type 2, severe form | c0026705 | 6,062 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=217085 | 2021-01-23T18:09:55 | {"mesh": ["D016532"], "omim": ["309900"], "icd-10": ["E76.1"], "synonyms": ["Hunter syndrome type A", "Iduronate 2-sulfatase deficiency type A", "MPS2A", "MPSIIA", "Mucopolysaccharidosis type 2A", "Mucopolysaccharidosis type II, severe form", "Mucopolysaccharidosis type IIA"]} |
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.
## Epidemiology
Holt-Oram syndrome (HOS) prevalence is estimated at 1/ 100,000 live births (in Hungary), but various cases have been published worldwide.
## Clini... | Holt-Oram syndrome | c0265264 | 6,063 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=392 | 2021-01-23T18:24:10 | {"gard": ["6666"], "mesh": ["C535326"], "omim": ["142900"], "umls": ["C0265264"], "icd-10": ["Q87.2"], "synonyms": ["Atriodigital dysplasia type 1", "HOS", "Heart-hand syndrome type 1"]} |
Salivary peroxidase is polymorphic; leukocyte peroxidase is not (Azen, 1977). Azen concluded that homozygosity for a recessive gene determines a phenotype of fast electrophoretic mobility (SAPX-1). SAPX-2 and SAPX-3 phenotypes are each determined by a dominant allele at the locus of the recessive allele. Furthermore,... | PEROXIDASE, SALIVARY | c1868425 | 6,064 | omim | https://www.omim.org/entry/170990 | 2019-09-22T16:36:23 | {"omim": ["170990"]} |
A number sign (#) is used with this entry because this form of limb-girdle muscular dystrophy-dystroglycanopathy (type C4; MDDGC4), also known as LGMDR13 and LGMD2M, is caused by homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN; 607440) on chromosome 9q31.
Mutation in the FKTN gene can... | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 | c1969040 | 6,065 | omim | https://www.omim.org/entry/611588 | 2019-09-22T16:03:06 | {"doid": ["0110296"], "mesh": ["C566912"], "omim": ["611588"], "orphanet": ["206554"], "synonyms": ["Alternative titles", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 13", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M"]} |
Gartner's duct cyst
Gross pathology of Gartner's duct cyst
SpecialtyGynecology
A Gartner's duct cyst (sometimes incorrectly referred to as vaginal inclusion cyst) is a benign vaginal cyst that originates from the Gartner's duct, which is a vestigial remnant of the mesonephric duct (wolffian duct) in females.... | Gartner's duct cyst | c0221366 | 6,066 | wikipedia | https://en.wikipedia.org/wiki/Gartner%27s_duct_cyst | 2021-01-18T18:49:51 | {"wikidata": ["Q5524429"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive intellectual developmental disorder-70 (MRT70) is caused by homozygous mutation in the RSRC1 gene (613352) on chromosome 3q25.
Description
MRT70 is characterized primarily by impaired intellectual development. Mild facial dys... | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70 | None | 6,067 | omim | https://www.omim.org/entry/618402 | 2019-09-22T15:42:08 | {"omim": ["618402"], "orphanet": ["88616"], "synonyms": ["Alternative titles", "NS-ARID", "AR-NSID", "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 70"]} |
## Clinical Features
Mievis et al. (1996) described a possibly distinct syndrome in 2 brothers born of nonconsanguineous healthy parents. The older brother exhibited short stature, slender trunk with a low chest circumference, relatively large head, triangular face, and retromicrognathia. At 10.5 years of age, his ... | SHORT STATURE SYNDROME, BRUSSELS TYPE | c1832439 | 6,068 | omim | https://www.omim.org/entry/601350 | 2019-09-22T16:14:59 | {"mesh": ["C537121"], "omim": ["601350"], "orphanet": ["2867"]} |
Poland syndrome
Other namesPoland's syndrome, Poland's syndactyly, Poland sequence, Poland's anomaly, unilateral defect of pectoralis major and syndactyly of the hand[1]
Missing right breast and right pectoralis major muscle in Poland syndrome[2]
SpecialtyMedical genetics
SymptomsUnderdeveloped chest muscle a... | Poland syndrome | c1868156 | 6,069 | wikipedia | https://en.wikipedia.org/wiki/Poland_syndrome | 2021-01-18T18:35:06 | {"gard": ["7412"], "mesh": ["C566793", "D011045"], "umls": ["C1868156"], "icd-9": ["756.89"], "orphanet": ["2911"], "wikidata": ["Q633859"]} |
A number sign (#) is used with this entry because of evidence that metachromatic leukodystrophy due to saposin B deficiency is caused by homozygous or compound heterozygous mutation in the prosaposin gene (PSAP; 176801) on chromosome 10q22.
This disorder is genetically distinct from metachromatic leukodystrophy ... | METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY | c0023522 | 6,070 | omim | https://www.omim.org/entry/249900 | 2019-09-22T16:25:29 | {"doid": ["10581"], "mesh": ["D007966"], "omim": ["249900"], "orphanet": ["512"], "synonyms": ["Alternative titles", "METACHROMATIC LEUKODYSTROPHY DUE TO CEREBROSIDE SULFATASE ACTIVATOR DEFICIENCY", "SAPOSIN B DEFICIENCY"]} |
Armillaria root rot
Armillaria luteobubalina, widespread in Australia, is a primary cause of Eucalyptus tree death and forest dieback resulting from Armillaria root rot.
Causal agentsSeveral species of the genus Armillaria
HostsSeveral tree species
Armillaria root rot is a fungal root rot caused by s... | Armillaria root rot | None | 6,071 | wikipedia | https://en.wikipedia.org/wiki/Armillaria_root_rot | 2021-01-18T19:04:36 | {"wikidata": ["Q4793483"]} |
Cerulean cataracts are opaque areas that develop in the lens of the eye that often have a bluish or whitish color. They may be present at birth or develop in very early childhood, but may not be diagnosed until adulthood. They are usually bilateral and progressive. Infants can be asymptomatic, but may also be visuall... | Cerulean cataract | c0344523 | 6,072 | gard | https://rarediseases.info.nih.gov/diseases/9508/cerulean-cataract | 2021-01-18T18:01:32 | {"mesh": ["C537955"], "omim": ["115660", "601547", "608983", "610202"], "umls": ["C0344523"], "orphanet": ["98989"], "synonyms": ["Cataract, congenital, cerulean type 1", "CCA1", "Cataract, congenital, blue dot type 1"]} |
Look up dysorgasmia in Wiktionary, the free dictionary.
Dysorgasmia is the experience of pain after an orgasm, usually in the abdomen. The condition may be experienced during or after orgasm, sometimes as late as several hours after the orgasm occurred. Both men and women can experience orgasmic pain. The term i... | Dysorgasmia | None | 6,073 | wikipedia | https://en.wikipedia.org/wiki/Dysorgasmia | 2021-01-18T18:53:01 | {"wikidata": ["Q97366766"]} |
Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia (see this term) and an increased risk of pulp exposure.
*[v]: View this template
*[t]: Discuss thi... | Fused mandibular incisors | c3494175 | 6,074 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2287 | 2021-01-23T17:55:27 | {"gard": ["2419"], "mesh": ["D005671", "C535997"], "omim": ["147251"], "umls": ["C2931081", "C3494175"], "icd-10": ["K00.2"]} |
Braun and Bayer (1962) described a sibship of 12 containing 5 affected brothers. Two brothers, 5 sisters and both parents were normal. Parental consanguinity was denied. Whereas 2 of the affected sibs had urinary tract and digital anomalies, bifid uvula, nephrosis and deafness, 1 brother was deaf and had digital anom... | NEPHROSIS WITH DEAFNESS AND URINARY TRACT AND DIGITAL MALFORMATIONS | c1850552 | 6,075 | omim | https://www.omim.org/entry/256200 | 2019-09-22T16:24:24 | {"mesh": ["C536402"], "omim": ["256200"], "orphanet": ["2669"]} |
"Laurence-Moon-Biedl syndrome" and "Laurence-Moon-Biedl-Bardet" redirect here. Not to be confused with Laurence–Moon syndrome.
Bardet–Biedl syndrome
Other namesBiedl-Bardet Syndrome [1]
This condition is often inherited via autosomal recessive manner (including digenic recessive); but epigenetic phennomena also ... | Bardet–Biedl syndrome | c0752166 | 6,076 | wikipedia | https://en.wikipedia.org/wiki/Bardet%E2%80%93Biedl_syndrome | 2021-01-18T18:32:29 | {"gard": ["6866"], "mesh": ["D020788"], "umls": ["C0752166"], "icd-9": ["759.89"], "orphanet": ["110"], "wikidata": ["Q1678281"]} |
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 2018) (Learn how and when to remove this template message)
Porcine enzootic pneum... | Porcine enzootic pneumonia | c1258090 | 6,077 | wikipedia | https://en.wikipedia.org/wiki/Porcine_enzootic_pneumonia | 2021-01-18T18:57:31 | {"mesh": ["D045729"], "wikidata": ["Q1346131"]} |
Claude's syndrome
SpecialtyNeurology
Claude's syndrome is a form of brainstem stroke syndrome characterized by the presence of an ipsilateral oculomotor nerve palsy, contralateral hemiparesis, contralateral ataxia, and contralateral hemiplegia of the lower face, tongue, and shoulder. Claude's syndrome affects ... | Claude's syndrome | c0271373 | 6,078 | wikipedia | https://en.wikipedia.org/wiki/Claude%27s_syndrome | 2021-01-18T18:48:29 | {"mesh": ["D020526"], "icd-9": ["352.6"], "icd-10": ["G46.3"], "wikidata": ["Q5128655"]} |
## Clinical Features
Wulfsberg et al. (1993) studied a mother and her 3 affected children from a 4-generation family with apparent autosomal dominant, nonsyndromic, tetramelic, postaxial oligodactyly. The postaxial deficiency ranged from complete absence of the fifth metacarpals, metatarsals, and phalanges to c... | POSTAXIAL OLIGODACTYLY, TETRAMELIC | c1867924 | 6,079 | omim | https://www.omim.org/entry/176240 | 2019-09-22T16:35:46 | {"mesh": ["C566767"], "omim": ["176240"], "orphanet": ["2730"]} |
Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and certain physical features. It occurs almost exclusively in males.
The intellectual disability associated with Lujan syndrome is usually mild to moderate. Behavioral problems can include hyperactivity, aggressiveness, ext... | Lujan syndrome | c0796022 | 6,080 | medlineplus | https://medlineplus.gov/genetics/condition/lujan-syndrome/ | 2021-01-27T08:24:52 | {"gard": ["3307"], "mesh": ["C537724"], "omim": ["309520"], "synonyms": []} |
In 3 generations of a Greek Cypriot family, Middleton et al. (1992) described what appeared to be a new hereditary syndrome characterized by specific and striking facial characteristics and more variable skeletal deformities, as well as neuromuscular abnormalities. The facial appearance consisted of a thickened, ridg... | CYPRUS FACIAL NEUROMUSCULOSKELETAL SYNDROME | c1852396 | 6,081 | omim | https://www.omim.org/entry/123853 | 2019-09-22T16:42:37 | {"mesh": ["C536229"], "omim": ["123853"], "orphanet": ["2674"]} |
Focal hyperhidrosis
Other namesprimary hyperhidrosis
Focal hyperhidrosis, also known as primary hyperhidrosis, is a disease characterized by an excessive sweating localized in certain body regions (particularly palms, feet and underarms). Recent studies have shown that this condition, affecting between 1% and ... | Focal hyperhidrosis | c0476475 | 6,082 | wikipedia | https://en.wikipedia.org/wiki/Focal_hyperhidrosis | 2021-01-18T18:47:37 | {"icd-10": ["L74.5"], "wikidata": ["Q5463851"]} |
"LTBI" redirects here. For the airport, see Eskişehir Airport.
Latent tuberculosis
Other namesLatent tuberculosis infection
SpecialtyInfectious disease
Latent tuberculosis (LTB), also called latent tuberculosis infection (LTBI) is when a person is infected with Mycobacterium tuberculosis, but does not h... | Latent tuberculosis | c1609538 | 6,083 | wikipedia | https://en.wikipedia.org/wiki/Latent_tuberculosis | 2021-01-18T18:39:10 | {"mesh": ["D055985"], "icd-9": ["795.5"], "icd-10": ["R76.1"], "wikidata": ["Q4254929"]} |
A number sign (#) is used with this entry because of evidence that odontoonychodermal dysplasia (OODD) is caused by homozygous or compound heterozygous mutation in the WNT10A gene (606268) on chromosome on chromosome 2q35.
Clinical Features
In 3 consanguineous Lebanese Muslim Shiite sibships, Fadhil et al. (198... | ODONTOONYCHODERMAL DYSPLASIA | c1275074 | 6,084 | omim | https://www.omim.org/entry/257980 | 2019-09-22T16:24:09 | {"omim": ["257980"], "orphanet": ["2721"]} |
Baboon M7 xenotropic (type C) virus infects human cells but not Chinese hamster cells. By human-hamster cell hybrids, Brown et al. (1978) showed that this behavior of human cells requires chromosome 19. Thus, several virus susceptibilities have been related to chromosome 19; see poliovirus sensitivity (173850) and Ec... | BABOON M7 VIRUS INTEGRATION SITE | c1412786 | 6,085 | omim | https://www.omim.org/entry/109180 | 2019-09-22T16:44:34 | {"omim": ["109180"]} |
Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this temp... | Shprintzen-Goldberg syndrome | c1321551 | 6,086 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2462 | 2021-01-23T18:08:01 | {"gard": ["4861"], "mesh": ["C537328"], "omim": ["182212"], "umls": ["C1321551"], "icd-10": ["Q87.8"], "synonyms": ["Marfanoid craniosynostosis syndrome", "SGS"]} |
Suppression of an eye is a subconscious adaptation by a person's brain to eliminate the symptoms of disorders of binocular vision such as strabismus, convergence insufficiency and aniseikonia. The brain can eliminate double vision by ignoring all or part of the image of one of the eyes. The area of a person's visual ... | Suppression (eye) | c0750903 | 6,087 | wikipedia | https://en.wikipedia.org/wiki/Suppression_(eye) | 2021-01-18T18:38:43 | {"mesh": ["D000550"], "umls": ["C0750903"], "wikidata": ["Q7644639"]} |
Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body.
One of the major features of Alagille syndrome is liver damage caused by abnormalities in the bile ducts. These ducts carry bile (which helps to digest fats) from the liver to the gallbladder and small intestin... | Alagille syndrome | c1956125 | 6,088 | medlineplus | https://medlineplus.gov/genetics/condition/alagille-syndrome/ | 2021-01-27T08:25:10 | {"gard": ["804"], "mesh": ["D016738"], "omim": ["118450", "610205"], "synonyms": []} |
A number sign (#) is used with this entry because resistance to melioidosis is associated with a nonsense polymorphism in the gene encoding Toll-like receptor-5 (TLR5; 603031) on chromosome 1q41.
Description
Melioidosis is infection caused by the gram-negative, flagellated soil saprophyte Burkholderia pseudomallei,... | MELIOIDOSIS, SUSCEPTIBILITY TO | c0025229 | 6,089 | omim | https://www.omim.org/entry/615557 | 2019-09-22T15:51:37 | {"mesh": ["D008554"], "omim": ["615557"], "orphanet": ["31202"]} |
A rare developmental defect during embryogenesis that is characterized by growth dysregulation with overgrowth of the brain and multiple somatic tissues, with capillary skin malformations, megalencephaly (MEG) or hemimegalencephaly (HMEG), cortical brain abnormalities (in particular polymicrogyria), typical facial dy... | Megalencephaly-capillary malformation-polymicrogyria syndrome | c1865285 | 6,090 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=60040 | 2021-01-23T18:28:34 | {"gard": ["6950"], "mesh": ["C536142"], "omim": ["602501"], "umls": ["C1865285"], "icd-10": ["Q87.3"], "synonyms": ["MCAP", "MCM", "MCMTC", "Macrocephaly-capillary malformation syndrome", "Macrocephaly-cutis marmorata telangiectatica congenita syndrome", "Megalencephaly-capillary malformation syndrome", "Megalencephaly... |
Foodborne illness
Ciguatera fish poisoning
Other namesCiguatera, ciguatera food poisoning
Chemical structure of ciguatoxin
SpecialtyInfectious disease
SymptomsDiarrhea, vomiting, numbness, itchiness, sensitivity to hot and cold, dizziness, weakness[1][2]
Usual onset30 min to 2 days[3]
DurationFew weeks t... | Ciguatera fish poisoning | c0008775 | 6,091 | wikipedia | https://en.wikipedia.org/wiki/Ciguatera_fish_poisoning | 2021-01-18T18:48:21 | {"mesh": ["D036841"], "umls": ["C0008775"], "icd-9": ["988.0"], "icd-10": ["T61.0"], "wikidata": ["Q181831"]} |
Lujan–Fryns syndrome
Other namesX-linked mental retardation with Marfanoid habitus, Lujan syndrome[1][2][3]
Lujan–Fryns syndrome in a young adult male, with features that include a long, narrow face and recessed chin.
SpecialtyMedical genetics
Lujan–Fryns syndrome (LFS) is an X-linked genetic disorder ... | Lujan–Fryns syndrome | c0796022 | 6,092 | wikipedia | https://en.wikipedia.org/wiki/Lujan%E2%80%93Fryns_syndrome | 2021-01-18T18:56:40 | {"gard": ["3307"], "mesh": ["C537724"], "umls": ["C0796022"], "icd-9": ["317"], "icd-10": ["F70.1"], "wikidata": ["Q640836"]} |
Cholangiocarcinoma is a group of cancers that begin in the bile ducts. Bile ducts are branched tubes that connect the liver and gallbladder to the small intestine. They carry bile, which is a fluid that helps the body digest fats that are in food. Bile is made in the liver and stored in the gallbladder before bei... | Cholangiocarcinoma | c3810156 | 6,093 | medlineplus | https://medlineplus.gov/genetics/condition/cholangiocarcinoma/ | 2021-01-27T08:25:36 | {"gard": ["6042"], "omim": ["615619"], "synonyms": []} |
Leishmaniasis is a parasitic disease spread by the bite of infected sand flies. There are several different forms of leishmaniasis. The most common are cutaneous and visceral. The cutaneous type causes skin sores. The visceral type affects internal organs such as the spleen, liver and bone marrow. People with this fo... | Leishmaniasis | c0023281 | 6,094 | gard | https://rarediseases.info.nih.gov/diseases/6881/leishmaniasis | 2021-01-18T17:59:28 | {"mesh": ["D007896"], "omim": ["608207"], "orphanet": ["507"], "synonyms": ["Kala-azar", "Visceral leishmaniasis (subtype)", "Cutaneous leishmaniasis (subtype)"]} |
Hyper-IgM syndrome with susceptibility to opportunistic infections is a rare, genetic, non-severe combined immunodeficiency disorder characterized by normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent or severe bacterial infections and increase... | Hyper-IgM syndrome with susceptibility to opportunistic infections | c0398689 | 6,095 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=183663 | 2021-01-23T17:40:29 | {"mesh": ["D053307"], "omim": ["308230", "606843"], "icd-10": ["D80.5"], "synonyms": ["HIGM with susceptibility to opportunistic infections"]} |
A recessive distal myopathy characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes.
## Epidemiology
Miyoshi myopathy (MM) is the most common form of recessive distal myopathy in populations with founde... | Miyoshi myopathy | c1850808 | 6,096 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=45448 | 2021-01-23T17:16:44 | {"gard": ["9676"], "mesh": ["C537480"], "omim": ["254130", "613318"], "umls": ["C1850808"], "icd-10": ["G71.0"]} |
Virchow (1912) found a whorl in the hair of the left eyebrow near the nose in 8 members of 2 generations. The progenitor in the previous generation may have shown it also.
Hair \- Whorl in eyebrow Inheritance \- Autosomal dominant ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this... | EYEBROW, WHORL IN | c1851401 | 6,097 | omim | https://www.omim.org/entry/133800 | 2019-09-22T16:41:16 | {"omim": ["133800"]} |
Singh et al. (2003) described sisters who presented in their early teenage years with bilateral ankle, knee, and later, wrist pain. Radiologic examination revealed bilateral osteolysis of tali, scaphoids, and patella. Bone loss, sclerosis, and irregularity were seen in the affected areas. Short fourth metacarpals wer... | TALO-PATELLO-SCAPHOID OSTEOLYSIS, SYNOVITIS, AND SHORT FOURTH METACARPALS | c1864784 | 6,098 | omim | https://www.omim.org/entry/609655 | 2019-09-22T16:05:42 | {"mesh": ["C536894"], "omim": ["609655"], "orphanet": ["50809"]} |
Intraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a localized, tubular or fusiform enlargement of a nerve or nerve segment, usually in the extremities or the t... | Intraneural perineurioma | c1370658 | 6,099 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100003 | 2021-01-23T17:33:49 | {"gard": ["10921"], "umls": ["C1370658"]} |
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