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A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and ... | Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome | None | 1,000 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=73245 | 2021-01-23T17:00:42 | {"icd-10": ["G12.8"]} |
Erythromelalgia is a condition characterized by episodes of pain, redness, and swelling in various parts of the body, particularly the hands and feet. These episodes are usually triggered by increased body temperature, which may be caused by exercise or entering a warm room. Ingesting alcohol or spicy foods may also ... | Erythromelalgia | c0014805 | 1,001 | medlineplus | https://medlineplus.gov/genetics/condition/erythromelalgia/ | 2021-01-27T08:25:46 | {"gard": ["6377"], "mesh": ["D004916"], "omim": ["133020"], "synonyms": []} |
Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a rare metabolic condition in which the body is unable to break down long chains of sugar molecules called glycosaminoglycans. As a result, toxic levels of these sugars accumulate in cell structures called lysosomes, leading to the various sig... | Mucopolysaccharidosis type IV | c0026707 | 1,002 | gard | https://rarediseases.info.nih.gov/diseases/12562/mucopolysaccharidosis-type-iv | 2021-01-18T17:58:56 | {"mesh": ["D009085"], "orphanet": ["582"], "synonyms": ["MPS4", "MPSIV", "Mucopolysaccharidosis type 4", "Morquio disease"]} |
Chudley et al. (1985) described a family in which an adult brother and sister had congenital, nonprogressive myopathy due to multicore disease, severe mental retardation, short stature, and small pituitary fossa with sexual infantilism due to hypogonadotropic hypogonadism. Both had generalized mild weakness, bilatera... | MULTICORE MYOPATHY WITH MENTAL RETARDATION, SHORT STATURE, AND HYPOGONADOTROPIC HYPOGONADISM | c1854663 | 1,003 | omim | https://www.omim.org/entry/253320 | 2019-09-22T16:24:55 | {"mesh": ["C535458"], "omim": ["253320"], "orphanet": ["3068"], "synonyms": ["Alternative titles", "CHUDLEY SYNDROME"]} |
A rare primary immunodeficiency due to a defect in innate immunity characterized by a marked decrease or absence of myeloperoxidase activity in neutrophils and monocytes. Clinically, most patients are asymptomatic. Occasionally, severe infectious complications may occur, particularly recurrent candida infections, bei... | Myeloperoxidase deficiency | c0398595 | 1,004 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2587 | 2021-01-23T17:07:03 | {"gard": ["3868"], "mesh": ["C562864"], "omim": ["254600"], "umls": ["C0398595"], "icd-10": ["E80.3"], "synonyms": ["MPO deficiency"]} |
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Find sources: "Secondary poisoning" – news · newspapers · books · scholar · JSTOR (April 2017) (Learn how and when to remove this temp... | Secondary poisoning | None | 1,005 | wikipedia | https://en.wikipedia.org/wiki/Secondary_poisoning | 2021-01-18T18:40:29 | {"wikidata": ["Q7443865"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to multiple types of pituitary adenoma (PITA5) is conferred by heterozygous mutation in the CDH23 gene (605516) on chromosome 10q21.
Description
Both familial and sporadic pituitary adenomas have been found to be caused by germline mu... | PITUITARY ADENOMA 5, MULTIPLE TYPES | c4539685 | 1,006 | omim | https://www.omim.org/entry/617540 | 2019-09-22T15:45:36 | {"omim": ["617540"]} |
An acute arboviral infection caused by the La Crosse bunyavirus transmitted by an infected mosquito, usually observed in infants, children or adolescents (6 months to 16 years), and characterized by the onset of flulike symptoms such as fever, chills, nausea, vomiting, headache, and abdominal pain, followed by the on... | La Crosse encephalitis | c0014053 | 1,007 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=83483 | 2021-01-23T19:00:37 | {"gard": ["10820", "10925"], "mesh": ["D004670"], "umls": ["C0014053"], "icd-10": ["A83.5"], "synonyms": ["Californian encephalitis"]} |
Ectopic thymus is a condition where thymus tissue is found in an abnormal location. It is thought to be the result of either a failure of descent or a failure of involution of normal thymus tissue.
## Contents
* 1 Signs and Symptoms
* 2 Cause
* 3 Diagnosis
* 4 Treatment
* 5 Prognosis
* 6 Epidemiology
... | Ectopic thymus | c1333375 | 1,008 | wikipedia | https://en.wikipedia.org/wiki/Ectopic_thymus | 2021-01-18T18:41:36 | {"umls": ["C1333375"], "icd-9": ["759.2"], "icd-10": ["Q89.2"], "wikidata": ["Q5334295"]} |
For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia (SPG), see SPG5A (270800).
Clinical Features
Zortea et al. (2002) reported a consanguineous Italian family in which 4 of 8 sibs were affected with adult-onset (range 30 to 46 years) pyramidal symptom... | SPASTIC PARAPLEGIA 25, AUTOSOMAL RECESSIVE | c2936860 | 1,009 | omim | https://www.omim.org/entry/608220 | 2019-09-22T16:08:10 | {"doid": ["0110776"], "mesh": ["C536861"], "omim": ["608220"], "orphanet": ["101005"], "synonyms": ["Alternative titles", "DISC HERNIATION WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE"]} |
Abortion in Estonia has been legal since 23 November 1955, when Estonia was part of the Soviet Union. Estonia fine-tuned their legislation after the restoration of independence.[1]
Estonia allows abortion on-demand for any purpose,[1] before the end the 11th week of pregnancy.[2] Later abortions are permitted up to ... | Abortion in Estonia | None | 1,010 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_Estonia | 2021-01-18T18:41:11 | {"wikidata": ["Q1425609"]} |
A rare ophthalmic disorder characterized by intraocular inflammation primarily localized to the vitreous and peripheral retina. It incorporates pars planitis, posterior cyclitis, and hyalitis. Patients present with painless floaters, decreased or blurred vision, less frequently with pain, redness, and photophobia... | Intermediate uveitis | c0042166 | 1,011 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=279914 | 2021-01-23T17:37:29 | {"mesh": ["D015867"], "umls": ["C0042166"], "icd-10": ["H30.2"], "synonyms": ["IU"]} |
A number sign (#) is used with this entry because of evidence that proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH), also known as encephaloclastic proliferative vasculopathy, is caused by homozygous or compound heterozygous mutation in the FLVCR2 gene (610865) on chromosome 14q24.
Descrip... | PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME | c1856972 | 1,012 | omim | https://www.omim.org/entry/225790 | 2019-09-22T16:28:19 | {"mesh": ["C565593"], "omim": ["225790"], "orphanet": ["221126"], "synonyms": ["Alternative titles", "HYDRANENCEPHALY, FOWLER TYPE", "FOWLER SYNDROME", "HYDROCEPHALY/HYDRANENCEPHALY DUE TO CEREBRAL VASCULOPATHY", "ENCEPHALOCLASTIC PROLIFERATIVE VASCULOPATHY"]} |
Bart syndrome
SpecialtyDermatology
Bart syndrome is a genetic disorder characterized by the association of congenital localized absence of skin, epidermolysis bullosa, lesions of the mouth mucosa, and dystrophic nails.[1][2]
## Contents
* 1 Genetics
* 2 Diagnosis
* 3 See also
* 4 References
* 5 Ext... | Bart syndrome | c0268371 | 1,013 | wikipedia | https://en.wikipedia.org/wiki/Bart_syndrome | 2021-01-18T19:04:08 | {"mesh": ["C562638"], "umls": ["C0268371"], "wikidata": ["Q4865135"]} |
A number sign (#) is used with this entry because of evidence that autosomal dominant mental retardation-47 (MRD47) is caused by heterozygous mutation in the STAG1 gene (604358) on chromosome 3q22.
Clinical Features
Lehalle et al. (2017) described 13 patients from 12 unrelated families with delayed psychomotor ... | MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 | c4539951 | 1,014 | omim | https://www.omim.org/entry/617635 | 2019-09-22T15:45:18 | {"doid": ["0080238"], "omim": ["617635"], "orphanet": ["502434"], "synonyms": []} |
Extreme or irrational fear of heights
For the online game, see Acrophobia (game). For the amusement park ride, see Acrophobia (ride). For the fear of open spaces, see Agoraphobia.
Not to be confused with Fear of falling.
Acrophobia
Some jobs require working at heights.
SpecialtyPsychiatry
Acrophobia is an... | Acrophobia | c0233701 | 1,015 | wikipedia | https://en.wikipedia.org/wiki/Acrophobia | 2021-01-18T18:54:59 | {"wikidata": ["Q207783"]} |
Wiersma et al. (1976) reported mother and daughter with this combination. The uterus is double with two cervices. A partial vaginal septum obstructs one cervix which empties into a blind sac.
GU \- Double uterus \- Two cervices \- Partial vaginal septum \- Unilateral hematocolpos \- Renal agenesis Inheritance \- ... | UTERUS BICORNIS BICOLLIS WITH PARTIAL VAGINAL SEPTUM AND UNILATERAL HEMATOCOLPOS WITH IPSILATERAL RENAL AGENESIS | c1860549 | 1,016 | omim | https://www.omim.org/entry/192050 | 2019-09-22T16:32:09 | {"mesh": ["C566010"], "omim": ["192050"], "orphanet": ["3411"]} |
Human spinal cord disorder
Brown-Séquard syndrome
Other namesBrown-Séquard's paralysis
SpecialtyNeurology
Brown-Séquard syndrome (also known as Brown-Séquard's hemiplegia, Brown-Séquard's paralysis, hemiparaplegic syndrome, hemiplegia et hemiparaplegia spinalis, or spinal hemiparaplegia) is caused by damage... | Brown-Séquard syndrome | c0242644 | 1,017 | wikipedia | https://en.wikipedia.org/wiki/Brown-S%C3%A9quard_syndrome | 2021-01-18T18:59:40 | {"gard": ["5964"], "mesh": ["D018437"], "umls": ["C0242644"], "icd-9": ["344.89"], "wikidata": ["Q991037"]} |
A rare, genetic, acrokeratoderma disease characterized by multiple, symmetrical, asymptomatic, skin-colored (rarely, brownish), flat-topped, wart-like papules located on the dorsal aspects of the hands and feet (occasionally found on other parts of the body, such as knees, elbows and forearms), typically associat... | Acrokeratosis verruciformis of Hopf | c0265971 | 1,018 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79151 | 2021-01-23T18:45:47 | {"mesh": ["D007644"], "omim": ["101900"], "umls": ["C0265971"], "icd-10": ["Q82.8"], "synonyms": ["AKV of Hopf"]} |
Mucolipidosis III gamma is a slowly progressive disorder that affects many parts of the body. Signs and symptoms of this condition typically appear around age 3.
Individuals with mucolipidosis III gamma grow slowly and have short stature. They also have stiff joints and dysostosis multiplex, which refers to multiple... | Mucolipidosis III gamma | c1854896 | 1,019 | medlineplus | https://medlineplus.gov/genetics/condition/mucolipidosis-iii-gamma/ | 2021-01-27T08:24:38 | {"mesh": ["C565367"], "omim": ["252605"], "synonyms": []} |
PANDAS is an acronym for Pediatric Autoimmune Neuropsychiatric Disorders Associated with a group A beta-hemolytic Streptococcal infection and applied to a subgroup of children with obsessive-compulsive disorder (OCD) and/or tic disorders.
## Epidemiology
The prevalence is unknown but the boy-to-girl ratio is 2.6:1.... | PANDAS | c2931429 | 1,020 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=66624 | 2021-01-23T17:59:27 | {"gard": ["7312"], "mesh": ["C537163"], "synonyms": ["Pediatric autoimmune disorders associated with Streptococcus infections", "Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections"]} |
Pleomorphic adenoma
Pleomorphic adenoma consists of mixed epithelial (left) and mesenchymal cell components (right). The latter often exhibits myxofibrous appearance and in some instances shows chondromatous differentiation.
SpecialtyOncology
Pleomorphic adenoma is a common benign salivary gland neoplasm cha... | Pleomorphic adenoma | c0026277 | 1,021 | wikipedia | https://en.wikipedia.org/wiki/Pleomorphic_adenoma | 2021-01-18T18:28:37 | {"mesh": ["D008949"], "umls": ["C0026277"], "icd-9": ["210.2"], "icd-10": ["D11"], "orphanet": ["454821"], "wikidata": ["Q2064603"]} |
MYH9-related thrombocytopenia (MYH9RD) is a genetic condition caused by mutations in the MYH9 gene and is characterized by large platelets and thrombocytopenia (low number of platelets) which increases the risk for mild to serious bleeding in the body or in the skin. Young-adult onset high frequency sensorineural... | MYH9 related thrombocytopenia | c1854520 | 1,022 | gard | https://rarediseases.info.nih.gov/diseases/180/myh9-related-thrombocytopenia | 2021-01-18T17:58:51 | {"mesh": ["C535507"], "omim": ["155100"], "orphanet": ["182050"], "synonyms": ["MYH9 related disorders", "Sebastian syndrome (subtype)", "May-Hegglin anomaly (subtype)", "Fechtner syndrome (subtype)", "Epstein syndrome (subtype)", "MYH9-RD", "MYH9-related disease", "MYH9-related disorder", "MYH9-related syndrome", "MYH... |
A number sign (#) is used with this entry because of evidence that multiple types of congenital heart defects (CHTD2) are caused by heterozygous mutation in the TAB2 gene (605101) on chromosome 6q25.
For a discussion of genetic heterogeneity of multiple types of congenital heart defects, see 306955.
Clinical Featur... | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2 | c3554279 | 1,023 | omim | https://www.omim.org/entry/614980 | 2019-09-22T15:53:30 | {"omim": ["614980"]} |
Secondary lymphedema is a condition characterized by swelling of the soft tissues in which an excessive amount of lymph has accumulated, and is caused by certain malignant diseases such as Hodgkin's disease and Kaposi sarcoma.[1]:849
Secondary lymphedema also can be caused by several non-malignant diseases, such as ... | Secondary lymphedema | c0265191 | 1,024 | wikipedia | https://en.wikipedia.org/wiki/Secondary_lymphedema | 2021-01-18T18:31:59 | {"umls": ["C0265191"], "wikidata": ["Q7443853"]} |
A number sign (#) is used with this entry because of evidence that Bardet-Biedl syndrome-20 (BBS20) is caused by compound heterozygous mutation in the IFT74 gene (608040) on chromosome 9p21. One such patient has been reported.
Description
BBS20 is an autosomal recessive ciliopathy described in a single patient ... | BARDET-BIEDL SYNDROME 20 | c0752166 | 1,025 | omim | https://www.omim.org/entry/617119 | 2019-09-22T15:46:54 | {"mesh": ["D020788"], "omim": ["617119"], "orphanet": ["110"]} |
Beta-ketothiolase deficiency
Other names3-oxothiolase deficiency, Mitochondrial acetoacetyl-coenzyme A thiolase deficiency, Alpha-methyl-acetoacetyl-CoA thiolase deficiency
Isoleucine
Beta-ketothiolase deficiency is a rare, autosomal recessive metabolic disorder in which the body cannot properly process the ... | Beta-ketothiolase deficiency | c1536500 | 1,026 | wikipedia | https://en.wikipedia.org/wiki/Beta-ketothiolase_deficiency | 2021-01-18T18:37:43 | {"gard": ["872"], "mesh": ["C535434", "C535818"], "umls": ["C1536500"], "orphanet": ["134"], "wikidata": ["Q4897218"]} |
Salivary gland disease
Blockage of the submandibular gland by a stone with subsequent infection. Arrow marks pus coming out of the opening of the submandibular gland
SpecialtyGastroenterology, oral and maxillofacial surgery
Salivary gland diseases (SGD) are multiple and varied in cause.[1]
There are thr... | Salivary gland disease | c0036093 | 1,027 | wikipedia | https://en.wikipedia.org/wiki/Salivary_gland_disease | 2021-01-18T19:10:18 | {"mesh": ["D012466"], "umls": ["C0036093"], "icd-10": ["K11"], "wikidata": ["Q17152566"]} |
A number sign (#) is used with this entry because of evidence that familial focal epilepsy with variable foci-2 (FFEVF2) is caused by heterozygous mutation in the NPRL2 gene (607072) on chromosome 3p21.
Description
Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy char... | EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2 | c4310709 | 1,028 | omim | https://www.omim.org/entry/617116 | 2019-09-22T15:46:47 | {"omim": ["617116"], "orphanet": ["98820"], "synonyms": ["FFEVF", "Familial partial epilepsy with variable foci"]} |
Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the ... | Snowflake vitreoretinal degeneration | c1860405 | 1,029 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=91496 | 2021-01-23T17:04:04 | {"gard": ["9706"], "mesh": ["C536677"], "omim": ["193230"], "umls": ["C1860405"], "icd-10": ["H35.5"]} |
Left tension pneumothorax seen as a large, well-demarcated area devoid of lung markings with tracheal deviation and movement of the heart away from the affected side (mediastinal shift). There is also small pleural effusion on the left side.
Mediastinal shift is the deviation of the mediastinal structures towards on... | Mediastinal shift | c0264576 | 1,030 | wikipedia | https://en.wikipedia.org/wiki/Mediastinal_shift | 2021-01-18T18:56:10 | {"umls": ["C0264576"], "wikidata": ["Q1324598"]} |
Eye disease characterized by leakage of fluid under the retina
Central serous retinopathy
An occurrence of central serous retinopathy of the fovea centralis imaged using optical coherence tomography.
SpecialtyOphthalmology
Central serous retinopathy (CSR), also known as central serous chorioretinopathy ... | Central serous retinopathy | c0730328 | 1,031 | wikipedia | https://en.wikipedia.org/wiki/Central_serous_retinopathy | 2021-01-18T18:56:33 | {"gard": ["200"], "mesh": ["D056833"], "umls": ["C0730328"], "icd-9": ["362.41"], "icd-10": ["H35.7"], "orphanet": ["443079"], "wikidata": ["Q1431217"]} |
Vitamin D deficiency has become a worldwide health epidemic with clinical rates on the rise. In the years of 2011–12, it was estimated that around 4 million adults were considered deficient in Vitamin D throughout Australia.[1] The Australian Bureau of Statistics (ABS) found 23%, or one in four Australian adults ... | Vitamin D deficiency in Australia | None | 1,032 | wikipedia | https://en.wikipedia.org/wiki/Vitamin_D_deficiency_in_Australia | 2021-01-18T18:45:59 | {"wikidata": ["Q22091804"]} |
Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the... | Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia | c1858032 | 1,033 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=166277 | 2021-01-23T16:55:49 | {"gard": ["10290"], "mesh": ["C565734"], "omim": ["604922"], "umls": ["C1858032"], "icd-10": ["Q78.8"], "synonyms": ["Suarez-Stickler syndrome"]} |
Cowden syndrome
Other namesCowden's disease, multiple hamartoma syndrome
Cumulative risk for the development of cancer in males and females with Cowden syndrome from birth to age 70.
SpecialtyOncology, Dermatology, Gastroenterology, Neurology
Frequency1 in 200,000 individuals
Cowden syndrome (also known ... | Cowden syndrome | c0018553 | 1,034 | wikipedia | https://en.wikipedia.org/wiki/Cowden_syndrome | 2021-01-18T18:47:42 | {"gard": ["6202"], "mesh": ["D006223"], "umls": ["C0018553", "C0391826"], "orphanet": ["201"], "wikidata": ["Q1138188"]} |
Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ... | Intellectual disability, Buenos-Aires type | c0796080 | 1,035 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3079 | 2021-01-23T17:41:38 | {"gard": ["3485"], "mesh": ["C563095"], "omim": ["249630"], "umls": ["C0796080"], "icd-10": ["Q87.8"], "synonyms": ["Mutchinick syndrome"]} |
A special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen be... | Atresia of small intestine | c0266175 | 1,036 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1201 | 2021-01-23T18:29:24 | {"gard": ["140"], "mesh": ["C538260", "D007409"], "omim": ["243600"], "umls": ["C0021828", "C0266172", "C0266175"], "icd-10": ["Q41.0", "Q41.1", "Q41.2", "Q41.8", "Q41.9"], "synonyms": ["Apple peel syndrome", "Intestinal atresia type IIIb", "Jejunal atresia", "Jejunoileal atresia", "Small intestinal atresia"]} |
For a general phenotypic description and a discussion of genetic heterogeneity of preeclampsia, see PEE1 (189800).
Mapping
Hypothesizing that the genetic background of preeclampsia might show reduced heterogeneity in a founder population such as that of the Kainuu province in central eastern Finland, Laivuori et al... | PREECLAMPSIA/ECLAMPSIA 2 | c0032914 | 1,037 | omim | https://www.omim.org/entry/609402 | 2019-09-22T16:06:09 | {"doid": ["10591"], "mesh": ["D011225"], "omim": ["609402"], "orphanet": ["275555"]} |
A rare ciliopathy characterized by congenital or childhood onset sensorineural hearing loss (HL) and retinitis pigmentosa (RP) that occurs in a second step with a night blindness and a progressive vision loss and, in some cases, vestibular dysfunction.
## Epidemiology
Prevalence of Usher syndrome (US) is estimated ... | Usher syndrome | c0271097 | 1,038 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=886 | 2021-01-23T17:38:00 | {"gard": ["7843"], "mesh": ["D052245"], "omim": ["276900", "276901", "276902", "276904", "500004", "601067", "602083", "602097", "605472", "606943", "611383", "612632", "614504", "614869", "614990"], "umls": ["C0271097"], "icd-10": ["H35.5"], "synonyms": ["Retinitis pigmentosa-deafness syndrome", "Retinitis pigmentosa-... |
Nipple adenoma
Micrograph of a nipple adenoma. H&E stain.
SpecialtyOncology
A nipple adenoma is a rare benign tumour of the breast.
The condition may also be known as :
* Florid papillomatosis of the nipple
* Florid adenomatosis
* Subareolar duct papillomatosis
* Erosive adenomatosis[1]
## C... | Nipple adenoma | c0334378 | 1,039 | wikipedia | https://en.wikipedia.org/wiki/Nipple_adenoma | 2021-01-18T18:29:20 | {"umls": ["C0334378"], "icd-9": ["217"], "icd-10": ["D24"], "wikidata": ["Q7039586"]} |
Foot rot, or infectious pododermatitis, is a hoof infection commonly found in sheep, goats, and cattle. As the name suggests, it rots away the foot of the animal, more specifically the area between the two toes of the affected animal. It is extremely painful and contagious. It can be treated with a series of medi... | Foot rot | c0016513 | 1,040 | wikipedia | https://en.wikipedia.org/wiki/Foot_rot | 2021-01-18T18:50:49 | {"mesh": ["D005535"], "wikidata": ["Q1942000"]} |
Tyrosinemia type 2 is a genetic disorder in which individuals have elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition can affect the eyes, skin, and intellectual development. Symptoms of tyrosinemia type 2 often begin in early childhood and include excessive tearing, a... | Tyrosinemia type 2 | c0268487 | 1,041 | gard | https://rarediseases.info.nih.gov/diseases/3105/tyrosinemia-type-2 | 2021-01-18T17:57:15 | {"mesh": ["D020176"], "omim": ["276600"], "umls": ["C0268487"], "orphanet": ["28378"], "synonyms": ["Tyrosinemia type II", "Richner Hanhart syndrome", "TAT deficiency", "Tyrosine transaminase deficiency", "Keratosis palmoplantaris with corneal dystrophy", "Oregon type tyrosinemia", "Tyrosinosis oculocutaneous type", "T... |
In a brother and sister and a paternal first cousin of theirs, Bryan and Coskey (1967) described an asymptomatic, papular and plaquelike erythema appearing in infancy and involving the external ears and limbs. In the sibship of the affected sibs, 4 had clubfoot and dental anomalies.
Limbs \- Clubfoot Teeth \- Den... | ERYTHEMA OF ACRAL REGIONS | c1856900 | 1,042 | omim | https://www.omim.org/entry/227000 | 2019-09-22T16:28:07 | {"omim": ["227000"]} |
Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high an... | Temple-Baraitser syndrome | c2678486 | 1,043 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=420561 | 2021-01-23T17:46:41 | {"mesh": ["C567516"], "omim": ["611816"], "umls": ["C2678486"], "icd-10": ["Q87.2"], "synonyms": ["Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome", "TMBTS"]} |
Gibberd and Gavrilescu (1966) described a family in which 4 persons in 3 generations had a progressive hypertrophic polyneuritis associated with an abnormal protein in serum, cerebrospinal fluid and urine. Motor and sensory changes began at about age 50 years. Nerve conduction velocity was delayed. Sural nerve on bio... | NEUROPATHY, WITH PARAPROTEIN IN SERUM, CEREBROSPINAL FLUID AND URINE | c1834180 | 1,044 | omim | https://www.omim.org/entry/162600 | 2019-09-22T16:37:25 | {"mesh": ["C563516"], "omim": ["162600"]} |
Juberg and Hayward (1969) described a syndrome with oral, cranial and digital manifestations in 5 of 6 children of normal, unrelated parents. Two brothers had cleft lip and palate, microcephaly, hypoplasia and distal placement of the thumbs, and elbow deformities limiting extension. One of the brothers had toe anomal... | CLEFT LIP/PALATE WITH ABNORMAL THUMBS AND MICROCEPHALY | c0796099 | 1,045 | omim | https://www.omim.org/entry/216100 | 2019-09-22T16:29:32 | {"mesh": ["C537690"], "omim": ["216100"], "orphanet": ["2319"], "synonyms": ["Alternative titles", "OROCRANIODIGITAL SYNDROME", "JUBERG-HAYWARD SYNDROME"]} |
L-arginine:glycine amidinotransferase (AGAT) deficiency is a rare condition that primarily affects the brain. People with AGAT deficiency generally have mild to moderate intellectual disability. Other signs and symptoms may include seizures, delayed language development, muscle weakness, failure to thrive, autistic b... | L-arginine:glycine amidinotransferase deficiency | c2675179 | 1,046 | gard | https://rarediseases.info.nih.gov/diseases/10323/l-arginineglycine-amidinotransferase-deficiency | 2021-01-18T17:59:33 | {"mesh": ["C567192"], "omim": ["612718 "], "umls": ["C2675179"], "orphanet": ["35704"], "synonyms": ["AGAT deficiency", "Arginine:glycine amidinotransferase deficiency", "Creatine deficiency syndrome due to AGAT deficiency", "GATM deficiency"]} |
Neurosarcoidosis
Other namesBesnier-Boeck-Schaumann disease
This condition affects the cranial nerves
SpecialtyNeurology
Diagnostic methodBiopsy
Treatmentimmunosuppression
Neurosarcoidosis (sometimes shortened to neurosarcoid) refers to a type of sarcoidosis, a condition of unknown cause featuring gran... | Neurosarcoidosis | c0393485 | 1,047 | wikipedia | https://en.wikipedia.org/wiki/Neurosarcoidosis | 2021-01-18T19:00:58 | {"mesh": ["C535814"], "umls": ["C0393485"], "wikidata": ["Q12859178"]} |
Benign paroxysmal positional vertigo
Exterior of labyrinth of the inner ear.
SpecialtyOtorhinolaryngology
SymptomsRepeated periods of a spinning sensation with movement[1]
Usual onsetAge from 50s to 70s[2]
DurationEpisodes less than a minute[3]
Risk factorsOlder age, minor head injury[3]
Diagnostic ... | Benign paroxysmal positional vertigo | c0155502 | 1,048 | wikipedia | https://en.wikipedia.org/wiki/Benign_paroxysmal_positional_vertigo | 2021-01-18T18:36:45 | {"gard": ["5915"], "mesh": ["D065635"], "umls": ["C0155502"], "icd-10": ["H81.1"], "wikidata": ["Q817310"]} |
Intestinal neuronal dysplasia
Other namesNeuronal intestinal dysplasia
SpecialtyGastroenterology
Intestinal neuronal dysplasia (IND) is an inherited disease of the intestine that affects one in 3000 children and adults. The intestine uses peristalsis to push its contents toward the anus; IND sufferers ha... | Intestinal neuronal dysplasia | c1855733 | 1,049 | wikipedia | https://en.wikipedia.org/wiki/Intestinal_neuronal_dysplasia | 2021-01-18T19:05:51 | {"mesh": ["C537394"], "orphanet": ["99811"], "wikidata": ["Q6057481"]} |
A number sign (#) is used with this entry because of evidence that variation in the serotonin transmitter (SLC6A4; 182138) confers susceptibility to anxiety-related traits.
Description
Human personality is shaped by genetic and environmental factors, and evidence suggests that the genetic component is highly co... | ANXIETY | c0003467 | 1,050 | omim | https://www.omim.org/entry/607834 | 2019-09-22T16:08:41 | {"doid": ["2030"], "mesh": ["D001007"], "omim": ["607834"], "icd-10": ["F41.1"]} |
A number sign (#) is used with this entry because of evidence that combined oxidative phosphorylation deficiency-30 (COXPD30) is caused by homozygous or compound heterozygous mutation in the TRMT10C gene (615423) on chromosome 3q12.
For a discussion of genetic heterogeneity of combined oxidative phosphorylation defi... | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 | c4310773 | 1,051 | omim | https://www.omim.org/entry/616974 | 2019-09-22T15:47:16 | {"omim": ["616974"], "orphanet": ["478042"], "synonyms": ["COXPD30"]} |
Telogen effluvium
An Afghan child displaying hair loss due to severe malnutrition
SpecialtyDermatology
Telogen effluvium is a scalp disorder characterized by the thinning or shedding of hair resulting from the early entry of hair in the telogen phase (the resting phase of the hair follicle).[1][2] It is in t... | Telogen effluvium | c0263518 | 1,052 | wikipedia | https://en.wikipedia.org/wiki/Telogen_effluvium | 2021-01-18T19:01:44 | {"umls": ["C0263518"], "wikidata": ["Q26967"]} |
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Find sources: "Adiadochokinesia" – news · newspapers · books · scholar · JSTOR (September 2018) (Learn how and when to remove this... | Adiadochokinesia | c0234357 | 1,053 | wikipedia | https://en.wikipedia.org/wiki/Adiadochokinesia | 2021-01-18T18:34:19 | {"mesh": ["D002524"], "umls": ["C0234357"], "wikidata": ["Q8272913"]} |
A number sign (#) is used with this entry because autosomal recessive cutis laxa type IA (ARCL1A) is caused by homozygous or compound heterozygous mutation in the FBLN5 gene (604580) on chromosome 14q32.
Heterozygous mutation in the FBLN5 gene can cause an autosomal dominant form of cutis laxa (ADCL2; 614434).
Desc... | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA | c0432336 | 1,054 | omim | https://www.omim.org/entry/219100 | 2019-09-22T16:29:13 | {"doid": ["0070135"], "omim": ["219100"], "orphanet": ["90349"], "synonyms": ["Alternative titles", "ARCL1", "CUTIS LAXA, AUTOSOMAL RECESSIVE"], "genereviews": ["NBK5201"]} |
Yagi et al. (1994) presented the cases of 3 brothers with congenital hypopituitarism (see 613038) and central diabetes insipidus (see 125700). All 3 showed clinical features typical of congenital hypopituitarism: neonatal hypoglycemia, short stature, protruding forehead, and microgenitalia. All had hypoplastic genita... | HYPOPITUITARISM, CONGENITAL, WITH CENTRAL DIABETES INSIPIDUS | c1855800 | 1,055 | omim | https://www.omim.org/entry/241540 | 2019-09-22T16:26:35 | {"mesh": ["C565477"], "omim": ["241540"]} |
Paget disease of bone is a disorder that causes bones to grow larger and weaker than normal. Affected bones may be misshapen and easily broken (fractured).
The classic form of Paget disease of bone typically appears in middle age or later. It usually occurs in one or a few bones and does not spread from one bone to ... | Paget disease of bone | c4085251 | 1,056 | medlineplus | https://medlineplus.gov/genetics/condition/paget-disease-of-bone/ | 2021-01-27T08:25:02 | {"gard": ["8615", "4191"], "omim": ["602080", "167250", "606263", "239000"], "synonyms": []} |
Becker muscular dystrophy (BMD) is an inherited condition that causes progressive weakness and wasting of the skeletal and cardiac (heart) muscles. It primarily affects males. The age of onset and rate of progression can vary. Muscle weakness usually becomes apparent between the ages of 5 and 15. In some cases, heart... | Becker muscular dystrophy | c0917713 | 1,057 | gard | https://rarediseases.info.nih.gov/diseases/5900/becker-muscular-dystrophy | 2021-01-18T18:01:52 | {"mesh": ["D020388"], "omim": ["300376"], "umls": ["C0917713"], "orphanet": ["98895"], "synonyms": ["Benign pseudohypertrophic muscular dystrophy", "Becker's muscular dystrophy", "Muscular dystrophy, Becker type", "Muscular dystrophy pseudohypertrophic progressive, Becker type", "Becker dystrophinopathy"]} |
## Clinical Features
Barnes et al. (1969) reported 2 unrelated infants with thoracic dystrophy. The second child showed classic features of Jeune syndrome (see 208500); the first, however, was unusual in that the rib shortening was less severe, there was laryngeal stenosis, and similar but less severe clinical feat... | THORACOLARYNGOPELVIC DYSPLASIA | c1861197 | 1,058 | omim | https://www.omim.org/entry/187760 | 2019-09-22T16:32:42 | {"mesh": ["C536517"], "omim": ["187760"], "orphanet": ["3317"], "synonyms": ["Alternative titles", "BARNES SYNDROME"]} |
This article does not cite any sources. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Ocular tilt reaction" – news · newspapers · books · scholar · JSTOR (June 2017) (Learn how and when to remove this template message)
... | Ocular tilt reaction | c4518721 | 1,059 | wikipedia | https://en.wikipedia.org/wiki/Ocular_tilt_reaction | 2021-01-18T18:39:02 | {"umls": ["CL537114"], "wikidata": ["Q25313161"]} |
Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus.
*[v]: View this template
*[t... | Humerus trochlea aplasia | c1860773 | 1,060 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3383 | 2021-01-23T17:26:43 | {"gard": ["2750"], "mesh": ["C566022"], "omim": ["191000"], "umls": ["C1860773"], "icd-10": ["Q74.0"]} |
A rare central nervous system malformation characterized by an abnormally large brain, accompanied by abnormal head circumference measurements evident at birth or developing over the first years of life. The condition can be unilateral or bilateral and affects males more often than females. There is no typical patter... | Megalencephaly | c0221355 | 1,061 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2477 | 2021-01-23T18:28:24 | {"mesh": ["D058627"], "omim": ["155350", "248000"], "umls": ["C0221355", "C2720434"], "icd-10": ["Q04.5"], "synonyms": ["Macroencephaly"]} |
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed.
Find sources: "Ethmocephaly" – news · newspapers · books ... | Ethmocephaly | c0266680 | 1,062 | wikipedia | https://en.wikipedia.org/wiki/Ethmocephaly | 2021-01-18T18:41:40 | {"wikidata": ["Q5404130"]} |
A number sign (#) is used with this entry because of evidence that transient neonatal zinc deficiency (TNZD), which results from reduced zinc in maternal breast milk, is caused by maternal heterozygous mutation in the SLC30A2 gene (609617) on chromosome 1p36.
Description
Transient neonatal zinc deficiency occurs in... | ZINC DEFICIENCY, TRANSIENT NEONATAL | c1842486 | 1,063 | omim | https://www.omim.org/entry/608118 | 2019-09-22T16:08:14 | {"mesh": ["C564286"], "omim": ["608118"], "synonyms": ["Alternative titles", "ZINC DEFICIENCY, NEONATAL, DUE TO LOW BREAST MILK ZINC"]} |
Craniofrontonasal syndrome is a rare condition characterized by the premature closure of certain bones of the skull (craniosynostosis) during development, which affects the shape of the head and face. The condition is named for the areas of the body that are typically affected: the skull (cranio-), face (fronto-), an... | Craniofrontonasal syndrome | c0220767 | 1,064 | medlineplus | https://medlineplus.gov/genetics/condition/craniofrontonasal-syndrome/ | 2021-01-27T08:24:49 | {"gard": ["1578"], "mesh": ["C536456"], "omim": ["304110"], "synonyms": []} |
Adopted child syndrome is a controversial term that has been used to explain behaviors in adopted children that are claimed to be related to their adoptive status. Specifically, these include problems in bonding, attachment disorders, lying, stealing, defiance of authority, and acts of violence. The term has never ac... | Adopted child syndrome | None | 1,065 | wikipedia | https://en.wikipedia.org/wiki/Adopted_child_syndrome | 2021-01-18T18:56:33 | {"wikidata": ["Q366225"]} |
Infectious disease caused by the monkeypox virus that can occur in certain animals including humans
Monkeypox
The rash of monkeypox
SpecialtyInfectious disease
SymptomsFever, headache, muscle pains, blistering rash, swollen lymph nodes[1]
Usual onset5-21 days post exposure[1]
Duration2 to 5 weeks[1]
... | Monkeypox | c0276180 | 1,066 | wikipedia | https://en.wikipedia.org/wiki/Monkeypox | 2021-01-18T18:32:17 | {"gard": ["10722"], "mesh": ["D045908"], "umls": ["C0276180"], "wikidata": ["Q382370"]} |
This article or section may have been copied and pasted from another location, possibly in violation of Wikipedia's copyright policy. Please review the source and remedy this by editing this article to remove any non-free copyrighted content and attributing free content correctly, or flagging the content for dele... | Visual hallucinations in psychosis | None | 1,067 | wikipedia | https://en.wikipedia.org/wiki/Visual_hallucinations_in_psychosis | 2021-01-18T18:42:23 | {"wikidata": ["Q30302405"]} |
Although there are many syndromes of renal and/or genitorenal anomalies with radial ray dysostoses (Evans et al., 1992), the association of renal anomalies with ulnar ray dysgenesis has been found to occur mainly in 2 entities, the ulnar-mammary syndrome (181450) and Weyers ulnar ray/oligodactyly syndrome (602418). K... | ULNAR RAY DYSGENESIS WITH POSTAXIAL POLYDACTYLY AND RENAL CYSTIC DYSPLASIA | c1858422 | 1,068 | omim | https://www.omim.org/entry/604380 | 2019-09-22T16:12:00 | {"mesh": ["C565783"], "omim": ["604380"]} |
A number sign (#) is used with this entry because of evidence that retinal arterial macroaneurysm associated with supravalvular pulmonic stenosis (RAMSVPS) can be caused by homozygous mutation in the IGFBP7 gene (602867) on chromosome 4q12.
Description
Retinal arterial macroaneurysm is an autosomal recessive condit... | RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS | c3280205 | 1,069 | omim | https://www.omim.org/entry/614224 | 2019-09-22T15:55:59 | {"omim": ["614224"], "orphanet": ["284247"], "synonyms": ["FRAM", "Retinal arterial macroaneurysm and supravalvular pulmonic stenosis"]} |
An extremely rare penile epithelial neoplasm, histologically composed of nests of epithelilal cells floating in lakes of extracellular, PAS-positive mucin, clinically characterized by a nonhealing ulcer or soft mass in the preputium or glans area, with itching and burning often preceding appearance of the lesion. Lym... | Adenocarcinoma of the penis | c0221286 | 1,070 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=398053 | 2021-01-23T18:26:17 | {"icd-10": ["C60.0", "C60.1", "C60.2", "C60.8", "C60.9"], "synonyms": ["Penile adenocarcinoma"]} |
Dhumeaux and Berthelot (1975) described a third form of conjugated hyperbilirubinemia presumably distinct from either the Rotor form (237450) or the Dubin-Johnson form (237500). The plasma disappearance rate and hepatic transport maximum for sulfobromophthalein, dibromosulfophthalein, rose bengal, and indocyanin gree... | HYPERBILIRUBINEMIA, CONJUGATED, TYPE III | c0400964 | 1,071 | omim | https://www.omim.org/entry/237550 | 2019-09-22T16:26:52 | {"mesh": ["C562885"], "omim": ["237550"]} |
Epizootic ulcerative syndrome (EUS), also known as mycotic granulomatosis (MG) or red spot disease (RSD), is a disease caused by the water mould Aphanomyces invadans. It infects many freshwater and brackish fish species in the Asia-Pacific region and Australia. The disease is most commonly seen when there are low tem... | Epizootic ulcerative syndrome | None | 1,072 | wikipedia | https://en.wikipedia.org/wiki/Epizootic_ulcerative_syndrome | 2021-01-18T18:38:32 | {"wikidata": ["Q2691562"]} |
Multiple epiphyseal dysplasia is a disorder of cartilage and bone development primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of multiple epiphyseal dysplasia, which can be distinguished by their pattern of inheritance. Both the dominant and recessive types hav... | Multiple epiphyseal dysplasia | c3279941 | 1,073 | medlineplus | https://medlineplus.gov/genetics/condition/multiple-epiphyseal-dysplasia/ | 2021-01-27T08:24:32 | {"gard": ["10756"], "omim": ["120210", "132400", "600204", "600969", "226900", "607078"], "synonyms": []} |
A rare autosomal recessive congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy including facial weakness, ocular abnormalities (ptosis and external ophthalmoplegia) and predominant proximal muscle weakness of variable severity with poss... | Autosomal recessive centronuclear myopathy | c0410204 | 1,074 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=169186 | 2021-01-23T17:20:27 | {"gard": ["12718"], "mesh": ["C562934"], "omim": ["255200", "615959"], "umls": ["C0410204", "C3645536"], "icd-10": ["G71.2"], "synonyms": ["AR-CNM"]} |
Pseudoinflammatory fundus dystrophy was described by Sorsby et al. (1949) as a dominant disorder (see 136900). The existence of a recessive form was suggested by several reports. From Finland, Forsius et al. (1982) reported a family in which both parents (who were related) were affected and all of their 8 children we... | FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, RECESSIVE FORM | c1850938 | 1,075 | omim | https://www.omim.org/entry/264420 | 2019-09-22T16:23:04 | {"mesh": ["C564992"], "omim": ["136900", "264420"], "orphanet": ["59181"], "synonyms": ["Alternative titles", "PFD, LAVIA TYPE", "PFD, FINNISH TYPE"]} |
A number sign (#) is used with this entry because of evidence that Joubert syndrome-6 (JBTS6) is caused by homozygous or compound heterozygous mutation in the TMEM67 (609884) on chromosome 8q22.
Description
Joubert syndrome is an autosomal recessive disorder presenting with psychomotor delay, hypotonia, ataxia, ocu... | JOUBERT SYNDROME 6 | c4551568 | 1,076 | omim | https://www.omim.org/entry/610688 | 2019-09-22T16:04:12 | {"doid": ["0111001"], "mesh": ["C536293"], "omim": ["213300", "610688"], "orphanet": ["475"], "synonyms": ["CPD IV", "Cerebelloparenchymal disorder IV", "Classic Joubert syndrome", "Joubert syndrome type A", "Joubert-Boltshauser syndrome", "Pure Joubert syndrome"], "genereviews": ["NBK1325"]} |
Hypotonia
Other namesFloppy baby syndrome
An infant with botulism; despite not being asleep or sedated, he cannot open his eyes or move; he also has a weak cry.
SpecialtyPediatrics
SymptomsMuscle weakness
Hypotonia is a state of low muscle tone[1] (the amount of tension or resistance to stretch in a musc... | Hypotonia | c0026827 | 1,077 | wikipedia | https://en.wikipedia.org/wiki/Hypotonia | 2021-01-18T18:52:22 | {"mesh": ["D009123"], "umls": ["C0026827"], "icd-9": ["781.3", "358"], "icd-10": ["P94.2"], "wikidata": ["Q1753547"]} |
Far East scarlet-like fever
Other namesScarlatinoid fever
SpecialtyInfectious disease
Far East scarlet-like fever is an infectious disease caused by the gram negative bacillus Yersinia pseudotuberculosis. In Japan it is called Izumi fever.[1]
## Contents
* 1 Signs and symptoms
* 2 Cause
* 3 Patho... | Far East scarlet-like fever | c0043410 | 1,078 | wikipedia | https://en.wikipedia.org/wiki/Far_East_scarlet-like_fever | 2021-01-18T19:07:04 | {"mesh": ["D015012"], "icd-10": ["A04.8,A28.2"], "wikidata": ["Q18371582"]} |
Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asy... | Distal trisomy 9q | c4706939 | 1,079 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=96101 | 2021-01-23T18:09:28 | {"icd-10": ["Q92.3"], "synonyms": ["Distal duplication 9q", "Telomeric duplication 9q", "Trisomy 9qter"]} |
## Summary
### Clinical characteristics.
Familial hemiplegic migraine (FHM) falls within the category of migraine with aura. In migraine with aura (including familial hemiplegic migraine) the neurologic symptoms of aura are unequivocally localizable to the cerebral cortex or brain stem and include visual disturbanc... | Familial Hemiplegic Migraine | c0338484 | 1,080 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1388/ | 2021-01-18T21:27:03 | {"mesh": ["D020325"], "synonyms": []} |
Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.
## Epidemiology
To date, CCFDN has been found to occur exclusively in patients of Roma (Gypsy) ethnicity; over 100 patients have been diagnosed.
## Clinical description
Devel... | Congenital cataracts-facial dysmorphism-neuropathy syndrome | c1858726 | 1,081 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=48431 | 2021-01-23T18:40:15 | {"mesh": ["C565822"], "omim": ["604168"], "umls": ["C1858726"], "icd-10": ["Q87.8"], "synonyms": ["CCFDN"]} |
Deacon et al. (1974) described brother and sister with a form of infantile cardiomyopathy characterized by accumulation of lipid in the sarcoplasm of myocardial fibers. Only sporadic cases had been reported previously (Reid et al., 1968). In Deacon's cases onset was at birth and 4 weeks of age and death at 19 days an... | CARDIAC LIPIDOSIS, FAMILIAL | c1708371 | 1,082 | omim | https://www.omim.org/entry/212080 | 2019-09-22T16:30:07 | {"mesh": ["C535584"], "omim": ["212080"], "orphanet": ["137675"]} |
## Clinical Features
Medlej-Hashim et al. (2002) described 4 members of a consanguineous Jordanian family with severe hearing loss. Age at onset was in early childhood.
Mapping
By genomewide linkage analysis, followed by homozygosity mapping, in a consanguineous Jordanian family segregating nonsyndromic deafness,... | DEAFNESS, AUTOSOMAL RECESSIVE 33 | c1846576 | 1,083 | omim | https://www.omim.org/entry/607239 | 2019-09-22T16:09:30 | {"doid": ["0110492"], "mesh": ["C564602"], "omim": ["607239"], "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"]} |
A number sign (#) is used with this entry because of evidence that Crisponi/cold-induced sweating syndrome-1 (CISS1) is caused by homozygous or compound heterozygous mutation in the CRLF1 gene (604237) on chromosome 19p13.
Description
Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder charac... | CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 | c1848947 | 1,084 | omim | https://www.omim.org/entry/272430 | 2019-09-22T16:21:58 | {"doid": ["0080329"], "mesh": ["C536214"], "omim": ["272430"], "orphanet": ["157820"], "synonyms": ["MUSCLE CONTRACTIONS, TETANOFORM, WITH CHARACTERISTIC FACE, CAMPTODACTYLY, HYPERTHERMIA, AND SUDDEN DEATH", "SOHAR-CRISPONI SYNDROME", "Alternative titles", "CRISPONI SYNDROME", "CISS"], "genereviews": ["NBK52917"]} |
## Clinical Features
The designation ophthalmomandibulomelic dysplasia was given by Pillay (1964) to a syndrome he observed in a father, son and daughter. Changes were found in the eye (corneal clouding), in the mandible (temporomandibular fusion, absent coronoid process, obtuse mandibular angle) and limbs (radiohu... | OPHTHALMOMANDIBULOMELIC DYSPLASIA | c1833872 | 1,085 | omim | https://www.omim.org/entry/164900 | 2019-09-22T16:37:07 | {"mesh": ["C563501"], "omim": ["164900"], "orphanet": ["2741"], "synonyms": ["Alternative titles", "OMM SYNDROME"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive spinocerebellar ataxia-12 (SCAR12) is caused by homozygous mutation in the WWOX gene (605131) on chromosome 16q23.
Biallelic mutation in the WWOX gene can also cause early infantile epileptic encephalopathy-28 (EIEE28; 616211), a ... | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 | c3280452 | 1,086 | omim | https://www.omim.org/entry/614322 | 2019-09-22T15:55:42 | {"doid": ["0080060"], "omim": ["614322"], "orphanet": ["284282"], "synonyms": ["Autosomal recessive spinocerebellar ataxia type 12", "Alternative titles", "SCAR12", "SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY"]} |
Although Senegal is a relatively underdeveloped country, HIV prevalence in the general population is low at around 0.08 per 1000 people, under 1% of the population.[1] This relatively low prevalence rate is aided by the fact that few people are infected every year– in 2016, 1100 new cases were reported vs 48,000 new ... | HIV/AIDS in Senegal | None | 1,087 | wikipedia | https://en.wikipedia.org/wiki/HIV/AIDS_in_Senegal | 2021-01-18T18:34:58 | {"wikidata": ["Q5629883"]} |
## Summary
### Clinical characteristics.
The spectrum of GRN frontotemporal dementia (GRN-FTD) includes the behavioral variant (bvFTD), primary progressive aphasia (PPA; further subcategorized as progressive non-fluent aphasia [PNFA] and semantic dementia [SD]), and movement disorders with extrapyramidal featur... | GRN Frontotemporal Dementia | c0338451 | 1,088 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1371/ | 2021-01-18T21:23:43 | {"mesh": ["D057180"], "synonyms": ["FTD-GRN"]} |
This article is about haemochromatosis associated with the HFE gene. For other causes of haemochromatosis, see iron overload.
Haemochromatosis type 1
Other namesHFE hereditary haemochromatosis[1] HFE-related hereditary haemochromatosis[2]
Iron accumulation demonstrated by Prussian blue staining in a patient with... | Hereditary haemochromatosis | c0018995 | 1,089 | wikipedia | https://en.wikipedia.org/wiki/Hereditary_haemochromatosis | 2021-01-18T18:54:09 | {"gard": ["10746"], "mesh": ["D006432"], "umls": ["C0018995"], "orphanet": ["139498", "220489"], "wikidata": ["Q3144934"]} |
Retinal hemorrhage
SpecialtyOphthalmology
Retinal haemorrhage is a disorder of the eye in which bleeding occurs in the retina, the light sensitive tissue, located on the back wall of the eye.[1] There are photoreceptor cells in the retina called rods and cones, which transduce light energy into nerve signa... | Retinal haemorrhage | c0035317 | 1,090 | wikipedia | https://en.wikipedia.org/wiki/Retinal_haemorrhage | 2021-01-18T18:35:33 | {"mesh": ["D012166"], "umls": ["C0035317"], "icd-9": ["362.81"], "icd-10": ["H35.6"], "wikidata": ["Q3144957"]} |
Palmar erythema
SpecialtyDermatology
Palmar erythema is reddening of the palms at the thenar and hypothenar eminences.[1]:139
## Contents
* 1 Causes
* 2 Diagnosis
* 3 See also
* 4 References
* 5 External links
## Causes[edit]
It is associated with various physiological as well as pathological... | Palmar erythema | c0014745 | 1,091 | wikipedia | https://en.wikipedia.org/wiki/Palmar_erythema | 2021-01-18T18:51:29 | {"umls": ["C0014745"], "icd-9": ["695.0"], "icd-10": ["L53.8"], "wikidata": ["Q1755849"]} |
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: "Denys–Drash syndrome" – news · newspapers · books · scholar · JSTOR (August 2020) (Learn how and when to remove thi... | Denys–Drash syndrome | c0950121 | 1,092 | wikipedia | https://en.wikipedia.org/wiki/Denys%E2%80%93Drash_syndrome | 2021-01-18T18:35:30 | {"gard": ["5576"], "mesh": ["D030321"], "umls": ["C0950121"], "orphanet": ["220"], "wikidata": ["Q774016"]} |
Absence of the mammary gland
Not to be confused with Amaziah.
Amazia refers to a condition where one or both of the mammary glands is absent (the nipple and areola remain present).[1] This may occur either congenitally or iatrogenically (typically the result of surgical removal and/or radiation therapy). Amazia... | Amazia | c0432357 | 1,093 | wikipedia | https://en.wikipedia.org/wiki/Amazia | 2021-01-18T18:36:54 | {"mesh": ["C562989", "C535565"], "umls": ["C0432357"], "icd-10": ["Q83.0"], "wikidata": ["Q4740761"]} |
Byssinosis
Other namesBrown lung disease, Monday fever
SpecialtyPulmonology
Byssinosis is an occupational lung disease caused by exposure to cotton dust in inadequately ventilated working environments.[1] Byssinosis commonly occurs in workers who are employed in yarn and fabric manufacture industries. It... | Byssinosis | c0006542 | 1,094 | wikipedia | https://en.wikipedia.org/wiki/Byssinosis | 2021-01-18T18:41:58 | {"gard": ["5976"], "mesh": ["D002095"], "icd-9": ["504"], "wikidata": ["Q1018652"]} |
A number sign (#) is used with this entry because autosomal recessive agenesis of the corpus callosum with peripheral neuropathy (ACCPN), also known as Andermann syndrome, is caused by homozygous or compound heterozygous mutation in the SLC12A6 gene (604878) on chromosome 15q14.
Description
Andermann syndrome i... | AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY | c0795950 | 1,095 | omim | https://www.omim.org/entry/218000 | 2019-09-22T16:29:19 | {"doid": ["0090003"], "mesh": ["C536446"], "omim": ["218000"], "orphanet": ["1496"], "synonyms": ["Alternative titles", "CHARLEVOIX DISEASE", "ANDERMANN SYNDROME", "POLYNEUROPATHY, SENSORIMOTOR, WITH OR WITHOUT AGENESIS OF THE CORPUS CALLOSUM", "CORPUS CALLOSUM, AGENESIS OF, WITH NEURONOPATHY"], "genereviews": ["NBK137... |
## Description
Congnital aplastic deformities of the breast include amastia (total absence of breasts and nipple), athelia (absence of the nipple), and amazia (absence of the mammary gland). Most common is amastia. Bilateral absence of the breasts may occur as an isolated anomaly or may be associated with a syndrom... | BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 1 | c0432357 | 1,096 | omim | https://www.omim.org/entry/113700 | 2019-09-22T16:43:56 | {"mesh": ["C562989"], "omim": ["113700"], "icd-10": ["Q83.0"], "orphanet": ["180188"], "synonyms": ["Alternative titles", "AMASTIA", "ATHELIA", "AMAZIA"]} |
Pressure-induced localized lipoatrophy is a rare, acquired, localized lipodystrophy characterized by band-like, horizontal, asymptomatic, lipoatrophic depressions with clinically normal overlying skin usually involving the anterolateral aspect of the thighs. An identifiable history of the repeated mechanical microtra... | Pressure-induced localized lipoatrophy | c1260961 | 1,097 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90160 | 2021-01-23T17:40:57 | {"icd-10": ["E88.1"], "synonyms": ["Lipoatrophia semicircularis", "Semicircular lipoatrophy"]} |
Laryngotracheal stenosis
This condition can also be referred to as subglottic or tracheal stenosis.
SpecialtyOtorhinolaryngology
Diagnostic methodPatient history, CT scan of neck and chest, fibre-optic bronchoscopy
Laryngotracheal stenosis refers to abnormal narrowing of the central air passageways.[1] Thi... | Laryngotracheal stenosis | c0040583 | 1,098 | wikipedia | https://en.wikipedia.org/wiki/Laryngotracheal_stenosis | 2021-01-18T18:43:31 | {"mesh": ["D014135"], "umls": ["C0040583"], "icd-9": ["748.3", "519.19"], "icd-10": ["J39.8", "Q31.1", "J38.6", "Q32.1", "J95.5"], "wikidata": ["Q4116448"]} |
17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.
## Epidemiology
The prevalence of 17q11 microdeletion s... | 17q11 microdeletion syndrome | c3150928 | 1,099 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=97685 | 2021-01-23T19:10:25 | {"gard": ["5408"], "mesh": ["C563524"], "omim": ["613675"], "umls": ["C3150928"], "icd-10": ["Q85.0"], "synonyms": ["Del(17)(q11)", "Monosomy 17q11", "NF1 microdeletion syndrome", "Neurofibromatosis type 1 microdeletion syndrome"]} |
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