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Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea
*[v]: View this template
*[t]: Discuss this templat... | Niemann-Pick disease type B | c0268243 | 6,300 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=77293 | 2021-01-23T17:57:28 | {"gard": ["10729"], "mesh": ["D052537"], "omim": ["607616"], "umls": ["C0268243"], "icd-10": ["E75.2"]} |
## Clinical Features
In his autobiography 'Surprised by Joy', Lewis (1955) wrote as follows: 'What drove me to write was the extreme manual clumsiness from which I have always suffered. I attribute it to a physical defect which my brother and I both inherit from our father; we have only one joint in the thumb. The ... | SYMPHALANGISM, C. S. LEWIS TYPE | c1861404 | 6,301 | omim | https://www.omim.org/entry/185650 | 2019-09-22T16:34:01 | {"mesh": ["C566100"], "omim": ["185650"], "synonyms": ["Alternative titles", "THUMBS, STIFF"]} |
A number sign (#) is used with this entry because of evidence that fast-channel congenital myasthenic syndrome-4B (CMS4B) is caused by homozygous or compound heterozygous mutation in the CHRNE gene (100725) on chromosome 17p13.
Mutation in the CHRNE gene can also cause slow-channel myasthenic syndrome (CMS4A; 605809... | MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL | c0751882 | 6,302 | omim | https://www.omim.org/entry/616324 | 2019-09-22T15:49:12 | {"doid": ["0110677"], "mesh": ["D020294"], "omim": ["616324"], "orphanet": ["98913", "590"], "synonyms": [], "genereviews": ["NBK1168"]} |
A number sign (#) is used with this entry because of evidence that microcephaly, short stature, and impaired glucose metabolism-1 (MSSGM1) is caused by homozygous mutation in the TRMT10A gene (616013) on chromosome 4q23.
Another syndrome involving microcephaly, short stature, and impaired glucose metabolism (MSSGM2;... | MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 | c4014997 | 6,303 | omim | https://www.omim.org/entry/616033 | 2019-09-22T15:50:10 | {"omim": ["616033"], "orphanet": ["391408"], "synonyms": ["MSSGM", "Alternative titles"]} |
Rare syndrome
Johnson–Munson syndrome
Other namesAphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
Aphalangy, hemivertebrae and urogenital-intestinal dysgenesis is an extremely rare syndrome, described only in three siblings.[1] It associates hypoplasia or aplasia of phalanges of hands and fee... | Johnson–Munson syndrome | c1859754 | 6,304 | wikipedia | https://en.wikipedia.org/wiki/Johnson%E2%80%93Munson_syndrome | 2021-01-18T18:59:24 | {"mesh": ["C535881"], "umls": ["C1859754"], "orphanet": ["1112"], "wikidata": ["Q6268578"]} |
Ringtail, also known as tail necrosis,[1] is an epidermal disease that may occur in rats, mice, hamsters and other rodents.[2]
In affected individuals, the tail swells as a consequence of annular constrictions along its length (hence the name "ringtail") and subsequent dehydration;[1] in the most severe cases, t... | Ringtail (disease) | None | 6,305 | wikipedia | https://en.wikipedia.org/wiki/Ringtail_(disease) | 2021-01-18T18:59:28 | {"wikidata": ["Q2153528"]} |
A number sign (#) is used with this entry because of evidence that hyperphosphatasia with mental retardation syndrome-2 (HPRMS2) is caused by compound heterozygous mutation in the PIGO gene (614730) on chromosome 9p13.
Description
Hyperphosphatasia with mental retardation syndrome-2 is an autosomal recessive disord... | HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 | c1855923 | 6,306 | omim | https://www.omim.org/entry/614749 | 2019-09-22T15:54:20 | {"mesh": ["C565495"], "omim": ["614749"], "orphanet": ["247262"], "synonyms": ["Alternative titles", "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6"]} |
A rare, early-onset and life-threatening, multiple carboxylase deficiency that when left untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma and death.
## Epidemiology
The exact prevalence of holocarboxylase synthertase deficiency ... | Holocarboxylase synthetase deficiency | c0268581 | 6,307 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79242 | 2021-01-23T19:06:01 | {"gard": ["2721"], "mesh": ["D028922"], "omim": ["253270"], "umls": ["C0268581"], "icd-10": ["E53.8"], "synonyms": ["Early-onset multiple carboxylase deficiency", "Neonatal multiple carboxylase deficiency"]} |
A number sign (#) is used with this entry because of evidence that diffuse nonepidermolytic palmoplantar keratoderma (NEPPK) is caused by heterozygous mutation in the KRT1 gene (139350) on chromosome 12q.
A focal form of NEPPK (FNEPPK; 613000) is caused by mutation in the KRT16 gene (148067) on chromosome 17q. The d... | PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC | c1833030 | 6,308 | omim | https://www.omim.org/entry/600962 | 2019-09-22T16:15:35 | {"doid": ["0050428"], "mesh": ["C563422"], "omim": ["600962"], "orphanet": ["496", "530838"], "synonyms": ["TYLOSIS", "Alternative titles", "PPKNE", "NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA", "Non-epidermolytic palmoplantar keratoderma", "KRT1-related diffuse NEPPK", "KERATODERMA, NONEPIDERMOLYTIC PALMOPLANTAR"]} |
Injuries in rock climbing may occur due to falls, or due to overuse (see Sports injury). Injuries due to falls are relatively uncommon; the vast majority of injuries result from overuse, most often occurring in the fingers, elbows, and shoulders.[1] Such injuries are often no worse than torn calluses, cuts, burns and... | Climbing injuries | None | 6,309 | wikipedia | https://en.wikipedia.org/wiki/Climbing_injuries | 2021-01-18T18:47:51 | {"wikidata": ["Q5133670"]} |
Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a specific type of ichthyosis mainly affecting the skin. Most infants with NBCIE are born with a tight, shiny covering on their skin, called a collodion membrane, which is typically shed within a few weeks. Other signs and symptoms include redness of the ski... | Nonbullous congenital ichthyosiform erythroderma | c0079154 | 6,310 | gard | https://rarediseases.info.nih.gov/diseases/9736/nonbullous-congenital-ichthyosiform-erythroderma | 2021-01-18T17:58:40 | {"mesh": ["D017490"], "omim": ["242100"], "orphanet": ["79394"], "synonyms": ["Ichthyosiform erythroderma, congenital, nonbullous, 1", "NCIE", "Ichthyosiform erythroderma, Brocq congenital, nonbullous form", "Congenital ichthyosiform erythroderma", "CIE", "NBCIE", "Congenital non-bullous ichthyosiform erythroderma", "E... |
A number sign (#) is used with this entry because benign familial infantile seizures-2 (BFIS2) is caused by heterozygous mutation in the PRRT2 gene (614386) on chromosome 16p11.
Description
Benign familial infantile seizure is an autosomal dominant disorder characterized by afebrile partial complex or generalized t... | SEIZURES, BENIGN FAMILIAL INFANTILE, 2 | c0220669 | 6,311 | omim | https://www.omim.org/entry/605751 | 2019-09-22T16:11:04 | {"doid": ["0060169"], "mesh": ["D020936"], "omim": ["605751"], "orphanet": ["306"], "synonyms": ["Alternative titles", "CONVULSIONS, BENIGN FAMILIAL INFANTILE, 2"], "genereviews": ["NBK475803"]} |
In an infant brother and sister born of unrelated parents, Mena et al. (1991) observed a similar and possibly unique set of congenital malformations. These included fused eyelids, craniofacial anomalies, ovarian cyst (in the female), subglottic stenosis, and specific digital abnormalities. Both infants had extension ... | FRASER-LIKE SYNDROME | c1856708 | 6,312 | omim | https://www.omim.org/entry/229230 | 2019-09-22T16:27:46 | {"mesh": ["C565562"], "omim": ["229230"], "orphanet": ["2051"], "synonyms": ["Alternative titles", "FUSED EYELIDS, AIRWAY ANOMALIES, OVARIAN CYSTS, AND DIGITAL ANOMALIES"]} |
Poor cellular differentiation, indicative of potential for cancer
-plasia and -trophy
* Anaplasia (structural differentiation loss within a cell or group of cells).
* Aplasia (organ or part of organ missing)
* Desmoplasia (connective tissue growth)
* Dysplasia (change in cell or tissue phenotype)
* Hy... | Anaplasia | c0002793 | 6,313 | wikipedia | https://en.wikipedia.org/wiki/Anaplasia | 2021-01-18T18:30:08 | {"mesh": ["D000708"], "umls": ["C0002793"], "wikidata": ["Q486082"]} |
A rare autosomal dominant malformation syndrome characterized by hypertelorism, omphalocoele, cleft lip, ear pits, uterine malformation (bicornuate uterus), and more variably by diaphragmatic hernia and congenital heart defects.
## Epidemiology
Unknown. Less than 40 patients reported with genetic confirmation. ... | Hypertelorism, Teebi type | c0796179 | 6,314 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1519 | 2021-01-23T18:40:20 | {"gard": ["957"], "mesh": ["C536951"], "omim": ["145420"], "umls": ["C1840378"], "icd-10": ["Q87.0"], "synonyms": ["Brachycephalofrontonasal dysplasia", "Craniofrontonasal dysplasia, Teebi type", "Teebi hypertelorism syndrome", "Teebi syndrome"]} |
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies.
## Epidemiology
It has been described in four children... | MPDU1-CDG | c1836669 | 6,315 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79323 | 2021-01-23T18:53:13 | {"gard": ["9832"], "mesh": ["C535744"], "omim": ["609180"], "umls": ["C1836669"], "icd-10": ["E77.8"], "synonyms": ["CDG syndrome type If", "CDG-If", "CDG1F", "Carbohydrate deficient glycoprotein syndrome type If", "Congenital disorder of glycosylation type 1f", "Congenital disorder of glycosylation type If"]} |
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations.
## Epidemiology
It has an an... | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | c1860042 | 6,316 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=95699 | 2021-01-23T17:11:24 | {"gard": ["12664"], "mesh": ["D054882"], "omim": ["613571"], "icd-10": ["E25.0"], "synonyms": ["Congenital adrenal hyperplasia due to cytochrome POR deficiency", "POR deficiency", "PORD"]} |
Japanese spotted fever
Other namesOriental spotted fever
SpecialtyInfectious disease
Japanese spotted fever is a condition characterized by a rash that has early macules, and later, in some patients, petechiae.[1]
It is caused by Rickettsia japonica.[2][3]
## See also[edit]
* Flea-borne spotted fever
... | Japanese spotted fever | c2108396 | 6,317 | wikipedia | https://en.wikipedia.org/wiki/Japanese_spotted_fever | 2021-01-18T18:51:00 | {"mesh": ["D000073605"], "icd-10": ["A77.8"], "wikidata": ["Q6159042"]} |
Common bile duct stone
Other namesCholedocholithiasis
Magnetic resonance cholangiopancreatography (MRCP) image of two gallstones in the distal common bile duct
SpecialtyGastroenterology
Common bile duct stone, also known as choledocholithiasis, is the presence of gallstones in the common bile duct (CBD... | Common bile duct stone | c0701818 | 6,318 | wikipedia | https://en.wikipedia.org/wiki/Common_bile_duct_stone | 2021-01-18T19:05:49 | {"mesh": ["D042883"], "umls": ["C0701818"], "wikidata": ["Q9290860"]} |
A number sign (#) is used with this entry because of evidence that orofaciodigital syndrome XV (OFD15) is caused by compound heterozygous mutation in the KIAA0753 gene (617112) on chromosome 17p13. One such patient has been reported.
Clinical Features
Chevrier et al. (2016) studied a female infant who was born ... | OROFACIODIGITAL SYNDROME XV | c2745997 | 6,319 | omim | https://www.omim.org/entry/617127 | 2019-09-22T15:46:52 | {"mesh": ["C536531"], "omim": ["617127"], "orphanet": ["2754"], "synonyms": ["Alternative titles", "OFDS XV", "ORAL-FACIAL-DIGITAL SYNDROME, TYPE XV"]} |
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (June 2016)
Prosopometamorphopsia is a rare visual perceptual distortion resulting in an altered perception of faces. It is distinct from prosopagnosia wh... | Prosopometamorphopsia | None | 6,320 | wikipedia | https://en.wikipedia.org/wiki/Prosopometamorphopsia | 2021-01-18T18:59:10 | {"wikidata": ["Q24896809"]} |
## Clinical Features
Neuhauser et al. (1975) reported a family in which 3 sibs were affected with megalocornea, iris hypoplasia, severe mental retardation, hypotonia, seizures, and minor facial anomalies, including frontal bossing, downslanting palpebral fissures, epicanthal folds, and broad nasal base. Four sporad... | MEGALOCORNEA-MENTAL RETARDATION SYNDROME | c0796086 | 6,321 | omim | https://www.omim.org/entry/249310 | 2019-09-22T16:25:29 | {"mesh": ["C536143"], "omim": ["249310"], "orphanet": ["2479"], "synonyms": ["Alternative titles", "MMR SYNDROME", "NEUHAUSER SYNDROME"]} |
For other uses, see Mania (disambiguation).
"Maniacal" redirects here. For other uses, see Maniacal (disambiguation).
State of abnormally elevated or irritable mood, arousal, and/or energy levels
Mania
Other namesManic syndrome, manic episode
Graphical representation of mania and hypomania
SpecialtyPsychiatr... | Mania | c0338831 | 6,322 | wikipedia | https://en.wikipedia.org/wiki/Mania | 2021-01-18T18:40:22 | {"mesh": ["D001714"], "icd-9": ["296.4", "296.0", "296.6"], "icd-10": ["F30"], "wikidata": ["Q185935"]} |
For a phenotypic description and a discussion of genetic heterogeneity of panic disorder, see 167870.
Mapping
To locate genes predisposing to anxiety disorders, Thorgeirsson et al. (2003) used the extensive genealogic records and relative homogeneity of the Icelandic population in a study in which participants ... | PANIC DISORDER 2 | c1842922 | 6,323 | omim | https://www.omim.org/entry/607853 | 2019-09-22T16:08:33 | {"omim": ["607853"], "synonyms": ["Alternative titles", "PAND2", "PANIC DISORDER SUSCEPTIBILITY LOCUS, CHROMOSOME 9q-RELATED"]} |
A number sign (#) is used with this entry because neuronal lipofuscinosis-4B (CLN4B) is caused by heterozygous mutation in the DNAJC5 gene (611203) on chromosome 20q13.
Description
Neuronal ceroid lipofuscinosis-4B is an autosomal dominant neurodegenerative disorder characterized by onset of symptoms in adulthood. ... | CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT | c0022797 | 6,324 | omim | https://www.omim.org/entry/162350 | 2019-09-22T16:37:32 | {"doid": ["0110720"], "mesh": ["D009472"], "omim": ["162350"], "orphanet": ["228343", "79262"], "synonyms": ["KUFS DISEASE, AUTOSOMAL DOMINANT", "Alternative titles", "CEROID LIPOFUSCINOSIS, NEURONAL, PARRY TYPE"]} |
SLC35A1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic a... | SLC35A1-CDG | c1970344 | 6,325 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=238459 | 2021-01-23T18:53:11 | {"gard": ["12409"], "mesh": ["C567040"], "omim": ["603585"], "umls": ["C1970344"], "icd-10": ["E77.8"], "synonyms": ["CDG syndrome type IIf", "CDG-IIf", "CDG2F", "CMP-sialic acid transporter deficiency", "Carbohydrate deficient glycoprotein syndrome type IIf", "Congenital disorder of glycosylation type 2f", "Congenital... |
Parasitic disease
Toxoplasmosis
T. gondii tachyzoites
SpecialtyInfectious disease
SymptomsOften none, during pregnancy (birth defects)[1][2]
CausesToxoplasma gondii[3]
Risk factorsEating poorly cooked food, exposure to infected cat feces[3]
Diagnostic methodBlood test, amniotic fluid test[4]
TreatmentD... | Toxoplasmosis | c0040558 | 6,326 | wikipedia | https://en.wikipedia.org/wiki/Toxoplasmosis | 2021-01-18T18:41:05 | {"mesh": ["D014123"], "umls": ["C0040558"], "wikidata": ["Q154878"]} |
## Summary
### Clinical characteristics.
Hypophosphatasia is characterized by defective mineralization of bone and/or teeth in the presence of low activity of serum and bone alkaline phosphatase. Clinical features range from stillbirth without mineralized bone at the severe end to pathologic fractures of the lo... | Hypophosphatasia | c0020630 | 6,327 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1150/ | 2021-01-18T21:18:14 | {"mesh": ["D007014"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that hereditary neuralgic amyotrophy (HNA) is caused by heterozygous mutation in the SEPT9 gene (604061) on chromosome 17q25.
Description
Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized clin... | AMYOTROPHY, HEREDITARY NEURALGIC | c0221759 | 6,328 | omim | https://www.omim.org/entry/162100 | 2019-09-22T16:37:34 | {"doid": ["10383"], "mesh": ["D020968"], "omim": ["162100"], "orphanet": ["2901"], "synonyms": ["Alternative titles", "NEURITIS WITH BRACHIAL PREDILECTION", "BRACHIAL PLEXUS NEUROPATHY, HEREDITARY", "AMYOTROPHY, HEREDITARY NEURALGIC, WITH PREDILECTION FOR BRACHIAL PLEXUS"], "genereviews": ["NBK1395"]} |
"B-cell CLL" redirects here. For the gene family, see B-cell CLL/lymphoma.
Chronic lymphocytic leukemia
Other namesB-cell chronic lymphocytic leukemia (B-CLL)[1]
Peripheral blood smear showing CLL cells
SpecialtyHematology and oncology
SymptomsEarly: None[2]
Later: Non-painful lymph nodes swelling, feeling... | Chronic lymphocytic leukemia | c1868683 | 6,329 | wikipedia | https://en.wikipedia.org/wiki/Chronic_lymphocytic_leukemia | 2021-01-18T19:10:44 | {"gard": ["6104", "8227"], "mesh": ["D015451"], "umls": ["C1868683", "C0855095"], "icd-10": ["C91.1"], "orphanet": ["67038"], "wikidata": ["Q1088156"]} |
Biliary reflux, bile reflux (gastritis), duodenogastroesophageal reflux (DGER) or duodenogastric reflux is a condition that occurs when bile and/or other contents like bicarbonate, and pancreatic enzymes flow upward (refluxes) from the duodenum into the stomach and esophagus.[1][2]
Biliary reflux can be confused... | Biliary reflux | c0013299 | 6,330 | wikipedia | https://en.wikipedia.org/wiki/Biliary_reflux | 2021-01-18T18:41:34 | {"mesh": ["D004383"], "umls": ["C0013299"], "wikidata": ["Q4170873"]} |
Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones.
## Epidemiology
SAO is common in Southe... | Southeast Asian ovalocytosis | c1862322 | 6,331 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98868 | 2021-01-23T17:52:49 | {"mesh": ["C566230"], "omim": ["166900"], "icd-10": ["D58.1"], "synonyms": ["Hereditary ovalocytosis", "Melanesian elliptocytosis", "Melanesian ovalocytosis", "SAO", "Stomatocytic elliptocytosis"]} |
Rare endometriosis is a rare, non-malformative gynecologic disease characterized by the presence of functional endometrial glands and stroma in extrapelvic locations, such as lungs, pleura, kidneys, bladder, abdominal wall, umbilicus, and cesarean section scar among others. Clinical manifestations are menstrually-rel... | Extrapelvic endometriosis | c0014175 | 6,332 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=137820 | 2021-01-23T18:47:23 | {"mesh": ["D004715"], "umls": ["C0014175"], "icd-10": ["N80.0", "N80.1", "N80.2", "N80.3", "N80.4", "N80.5", "N80.6", "N80.8", "N80.9"], "synonyms": ["Endometriosis outside pelvis"]} |
Esophageal web
SpecialtyGastroenterology
Esophageal webs are thin membranes occurring anywhere along the esophagus.[1]
## Contents
* 1 Presentation
* 2 Causes
* 3 Diagnosis
* 4 Treatment
* 5 References
* 6 External links
## Presentation[edit]
Its main symptoms are pain and difficulty in swallow... | Esophageal web | c0267080 | 6,333 | wikipedia | https://en.wikipedia.org/wiki/Esophageal_web | 2021-01-18T18:54:47 | {"icd-10": ["Q39.4"], "wikidata": ["Q1496010"]} |
Scrub typhus is a rare dust mite-borne infectious disease caused by the Orientia tsutsugamushi bacterium and characterized clinically by an eruptive fever which is potentially serious.
## Epidemiology
Precise prevalence and incidence rates of scrub typhus are not known. An estimated 1 billion people worldwide a... | Scrub typhus | c0036472 | 6,334 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=83317 | 2021-01-23T17:19:38 | {"mesh": ["D012612"], "umls": ["C0036472"], "icd-10": ["A75.3"], "synonyms": ["Tsutsugamushi disease", "Tsutsugamushi fever"]} |
A number sign (#) is used with this entry because autoimmune lymphoproliferative syndrome type III (ALPS3) is caused by homozygous mutation in the PRKCD gene (176977) on chromosome 3p21.
Description
Autoimmune lymphoproliferative syndrome type III is an autosomal recessive disorder of immune dysregulation. The phen... | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III | c1328840 | 6,335 | omim | https://www.omim.org/entry/615559 | 2019-09-22T15:51:37 | {"doid": ["0110119"], "mesh": ["D056735"], "omim": ["615559"], "orphanet": ["3261"], "synonyms": ["Alternative titles", "IMMUNODEFICIENCY, COMMON VARIABLE, 9, FORMERLY"]} |
## Summary
### Clinical characteristics.
DCX-related disorders include the neuronal migration disorders:
* Classic thick lissencephaly (more severe anteriorly), usually in males
* Subcortical band heterotopia (SBH), primarily in females
Males with classic DCX-related lissencephaly typically have early and pr... | DCX-Related Disorders | None | 6,336 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1185/ | 2021-01-18T21:32:17 | {"synonyms": []} |
A number sign (#) is used with this entry because pontocerebellar hypoplasia type 6 (PCH6) is caused by homozygous or compound heterozygous mutation in the gene encoding mitochondrial arginyl-tRNA synthetase (RARS2; 611524) on chromosome 6q15.
Description
Pontocerebellar hypoplasia (PCH) is a heterogeneous group of... | PONTOCEREBELLAR HYPOPLASIA, TYPE 6 | c1969084 | 6,337 | omim | https://www.omim.org/entry/611523 | 2019-09-22T16:03:10 | {"doid": ["0060275"], "mesh": ["C548074"], "omim": ["611523"], "orphanet": ["166073"], "synonyms": ["Alternative titles", "ENCEPHALOPATHY, FATAL INFANTILE, WITH MITOCHONDRIAL RESPIRATORY CHAIN DEFECTS"]} |
## Summary
### Clinical characteristics.
Spinocerebellar ataxia type 11 (SCA11) is characterized by progressive cerebellar ataxia and abnormal eye signs (jerky pursuit, horizontal and vertical nystagmus). Pyramidal features are seen on occasion. Peripheral neuropathy and dystonia are rare. Six families have been re... | Spinocerebellar Ataxia Type 11 | c1858351 | 6,338 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1757/ | 2021-01-18T20:54:48 | {"mesh": ["C565772"], "synonyms": ["SCA11"]} |
For other uses, see Angina (disambiguation).
Chest discomfort due to not enough blood flow to heart muscle
Angina
Other namesAngina pectoris
Diagram of discomfort caused by coronary artery disease. Pressure, fullness, squeezing or pain in the center of the chest. Can also feel discomfort in the neck, jaw, shoul... | Angina | c0002962 | 6,339 | wikipedia | https://en.wikipedia.org/wiki/Angina | 2021-01-18T18:40:01 | {"mesh": ["D000787"], "umls": ["C0002962"], "icd-9": ["413"], "icd-10": ["I20"], "wikidata": ["Q180762"]} |
Hematocolpos
SpecialtyGynaecology
Hematocolpos is a medical condition in which the vagina is pooled with menstrual blood due to multiple factors leading to the blockage of menstrual blood flow. The medical definition of hematocolpos is 'an accumulation of blood within the vagina'. It is often caused by the... | Hematocolpos | c0018934 | 6,340 | wikipedia | https://en.wikipedia.org/wiki/Hematocolpos | 2021-01-18T19:05:07 | {"mesh": ["D006399"], "icd-9": ["626.8"], "icd-10": ["N89.7"], "wikidata": ["Q5711155"]} |
Lymphangioleiomyomatosis (lim-FAN-je-o-LI-o-MI-o-ma-TO-sis), or LAM, is a rare cystic lung disease that mostly affects women in their mid-forties. In LAM, an unusual type of cell begins to grow out of control throughout the body, including in the lungs, lymph nodes and vessels, and kidneys. Over time, these LAM c... | Lymphangioleiomyomatosis | c0751674 | 6,341 | gard | https://rarediseases.info.nih.gov/diseases/3319/lymphangioleiomyomatosis | 2021-01-18T17:59:19 | {"mesh": ["D018192"], "omim": ["606690"], "orphanet": ["538"], "synonyms": ["LAM", "Lymphangio-myomatosis"]} |
A number sign (#) is used with this entry because this form of limb-girdle muscular dystrophy-dystroglycanopathy (type C5; MDDGC5), also designated LGMDR9 and LGMD2I, is caused by homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP; 606596) on chromosome 19q13.
Mutation in... | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 | c1846672 | 6,342 | omim | https://www.omim.org/entry/607155 | 2019-09-22T16:09:34 | {"doid": ["0110299"], "mesh": ["C564612"], "omim": ["607155"], "orphanet": ["34515"], "synonyms": ["Alternative titles", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 9", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I", "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED"]} |
Sutherland (1982) found 1 example of a 9q32 fragile site in a population study.
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor co... | FRAGILE SITE 9q32 | c1850978 | 6,343 | omim | https://www.omim.org/entry/136640 | 2019-09-22T16:40:56 | {"omim": ["136640"]} |
Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.
## Epidemiology
HSCR has an estimated annual incidence of 1/5,000 births. Short segmen... | Hirschsprung disease | c0019569 | 6,344 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=388 | 2021-01-23T18:05:07 | {"gard": ["6660"], "mesh": ["D006627"], "omim": ["142623", "600155", "600156", "606874", "606875", "608462", "611644", "613711", "613712"], "umls": ["C0019569", "C3661523"], "icd-10": ["Q43.1"], "synonyms": ["Aganglionic megacolon", "Congenital intestinal aganglionosis", "HSCR"]} |
A number sign (#) is used with this entry because immunoglobulin A (IgA) deficiency-2 (IGAD2) is caused by heterozygous, homozygous, or compound heterozygous mutation in the TNFRSF13B gene (604907), which encodes the transmembrane activator and CAML interactor (TACI), on chromosome 17p11.2.
Mutation in the TNFRSF13B... | IMMUNOGLOBULIN A DEFICIENCY 2 | c1836032 | 6,345 | omim | https://www.omim.org/entry/609529 | 2019-09-22T16:05:56 | {"mesh": ["C536291"], "omim": ["609529"], "synonyms": ["Alternative titles", "IMMUNOGLOBULIN A, SELECTIVE DEFICIENCY OF, TACI-RELATED", "IgA, SELECTIVE DEFICIENCY OF, TACI-RELATED"]} |
## Summary
### Clinical characteristics.
THOC6 intellectual disability syndrome is associated with moderate-to-severe developmental delay or intellectual disability; nonspecific dysmorphic facial features (tall forehead, deep-set eyes, short and upslanted palpebral fissures, epicanthal folds, and long nose with low... | THOC6 Intellectual Disability Syndrome | c3150939 | 6,346 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK560442/ | 2021-01-18T20:53:21 | {"synonyms": ["Beaulieu-Boycott-Innes Syndrome"]} |
Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands ... | XY type gonadal dysgenesis-associated anomalies syndrome | c1856272 | 6,347 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1770 | 2021-01-23T19:10:57 | {"mesh": ["C565536"], "omim": ["233430"], "umls": ["C1856272"], "icd-10": ["Q99.1"]} |
Hepatic lipase deficiency is a disorder that affects the body's ability to break down fats (lipids). People with this disorder have increased amounts of certain fats, known as triglycerides and cholesterol, in the blood. These individuals also have increased amounts of molecules known as high-density lipoproteins (HD... | Hepatic lipase deficiency | c3151466 | 6,348 | medlineplus | https://medlineplus.gov/genetics/condition/hepatic-lipase-deficiency/ | 2021-01-27T08:25:11 | {"gard": ["12864"], "omim": ["614025"], "synonyms": []} |
A testicular nubbin is the residual tissue of the human testis after a supposed perinatal vascular accident involving the testicular blood supply. The blood supply of the testis twists (called torsion) thereby cutting off the blood supply to the testis and results in testicular atrophy (shrinking). The nubbin is usua... | Testicular nubbin | None | 6,349 | wikipedia | https://en.wikipedia.org/wiki/Testicular_nubbin | 2021-01-18T18:43:54 | {"wikidata": ["Q7705857"]} |
Medical condition of the ear
Pseudocyst of the auricle
Other namesAuricular endochondrial pseudocyst,[1] Cystic chondromalacia,[1] Endochondral pseudocyst,[2] and Intracartilaginous cyst[1]
SpecialtyDermatology
Pseudocyst of the auricle is a cutaneous condition characterized by a fluctuant, tense, noninflam... | Pseudocyst of the auricle | None | 6,350 | wikipedia | https://en.wikipedia.org/wiki/Pseudocyst_of_the_auricle | 2021-01-18T18:58:00 | {"wikidata": ["Q7254720"]} |
A number sign (#) is used with this entry because of evidence that spinocerebellar ataxia-27 (SCA27) is caused by heterozygous mutation in the gene encoding fibroblast growth factor-14 (FGF14; 601515) on chromosome 13q33.
For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).
... | SPINOCEREBELLAR ATAXIA 27 | c1836383 | 6,351 | omim | https://www.omim.org/entry/609307 | 2019-09-22T16:06:17 | {"doid": ["0050976"], "mesh": ["C537204"], "omim": ["609307"], "orphanet": ["98764"], "synonyms": ["Alternative titles", "CEREBELLAR ATAXIA, AUTOSOMAL DOMINANT, FGF14-RELATED"]} |
A number sign (#) is used with this entry because Emanuel syndrome is caused by malsegregation of the t(11;22)(q23;q11.2) translocation, one of only a few recurrent non-Robertsonian constitutional translocations in humans (Fraccaro et al., 1980; Zackai and Emanuel, 1980).
See also supernumerary der(22)t(8;22) syndro... | EMANUEL SYNDROME | c1836929 | 6,352 | omim | https://www.omim.org/entry/609029 | 2019-09-22T16:06:50 | {"mesh": ["C535733"], "omim": ["609029"], "orphanet": ["96170"], "synonyms": ["Alternative titles", "SUPERNUMERARY DER(22)t(11"], "genereviews": ["NBK1263"]} |
3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.
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*[c.]: circa
*[AA]: Adrenergic agonist
*[... | 3p25.3 microdeletion syndrome | None | 6,353 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=435638 | 2021-01-23T19:09:19 | {"icd-10": ["Q93.5"], "synonyms": ["Del(3)p(25.3)", "Intellectual disability-epilepsy-stereotypic hand movement syndrome", "Monosomy 3p25.3"]} |
Mosquito-borne infectious disease
For other uses, see Malaria (disambiguation).
Not to be confused with miliaria.
Malaria
Malaria parasite connecting to a red blood cell
Pronunciation
* /məˈlɛəriə/
SpecialtyInfectious disease
SymptomsFever, vomiting, headache, yellow skin[1]
ComplicationsSeizures... | Malaria | c0024530 | 6,354 | wikipedia | https://en.wikipedia.org/wiki/Malaria | 2021-01-18T18:54:58 | {"gard": ["6961"], "mesh": ["D008288"], "umls": ["C0024530"], "orphanet": ["673"], "wikidata": ["Q12156"]} |
A rare disorder characterised by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three foetuses born to n... | Autosomal recessive amelia | c1832432 | 6,355 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1027 | 2021-01-23T17:03:17 | {"mesh": ["C563338"], "omim": ["601360"], "umls": ["C1832432"], "icd-10": ["Q73.0"]} |
Hypomagnesemia with secondary hypocalcemia is an inherited condition caused by the body's inability to absorb and retain magnesium that is taken in through the diet. As a result, magnesium levels in the blood are severely low (hypomagnesemia).
Hypomagnesemia impairs the function of the parathyroid glands, which are ... | Hypomagnesemia with secondary hypocalcemia | c1865974 | 6,356 | medlineplus | https://medlineplus.gov/genetics/condition/hypomagnesemia-with-secondary-hypocalcemia/ | 2021-01-27T08:25:04 | {"mesh": ["C566593"], "omim": ["602014"], "synonyms": []} |
A number sign (#) is used with this entry because Hermansky-Pudlak syndrome-3 (HPS3) is caused by homozygous or compound heterozygous mutation in the HPS3 gene (606118) on chromosome 3q24.
For a phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 (203300).
Clinica... | HERMANSKY-PUDLAK SYNDROME 3 | c0079504 | 6,357 | omim | https://www.omim.org/entry/614072 | 2019-09-22T15:56:37 | {"doid": ["0060541"], "mesh": ["D022861"], "omim": ["614072"], "orphanet": ["79430", "231512"], "genereviews": ["NBK1287"]} |
Tarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges.
## Epidemiology
Less than 10 affected families have been described so far.
## Clinical description
At birth, patients present with stiffness of the proximal interphalangeal joint of the fifth digit, with or without... | Tarsal-carpal coalition syndrome | c1861305 | 6,358 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1412 | 2021-01-23T17:54:33 | {"gard": ["9225"], "mesh": ["C536943"], "omim": ["186400", "186570"], "umls": ["C1861305"], "icd-10": ["Q74.8"]} |
## Clinical Features
Castro-Gago et al. (1983) described a brother and sister with microcephaly, oculocutaneous albinism, and digital anomalies (hypoplasia of the distal phalanx of right fingers I, III, and IV, and left fingers I, III, IV and V with agenesis of the distal part of the right first toe).
*[v]: ... | ALBINISM-MICROCEPHALY-DIGITAL ANOMALIES SYNDROME | c1859910 | 6,359 | omim | https://www.omim.org/entry/203340 | 2019-09-22T16:31:24 | {"mesh": ["C537322"], "omim": ["203340"], "orphanet": ["2513"], "synonyms": ["Alternative titles", "MICROCEPHALY-ALBINISM-DIGITAL ANOMALIES SYNDROME"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to microvascular complications of diabetes-3 is associated with variation in the gene encoding angiotensin I-converting enzyme (ACE; 106180) on chromosome 17q23.
For a discussion of genetic heterogeneity of susceptibility to microvascu... | MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3 | c2675470 | 6,360 | omim | https://www.omim.org/entry/612624 | 2019-09-22T16:01:20 | {"omim": ["612624"], "synonyms": ["Alternative titles", "NEPHROPATHY, DIABETIC, SUSCEPTIBILITY TO", "END-STAGE RENAL DISEASE, DIABETIC, SUSCEPTIBILITY TO"]} |
Foot of a draft horse
Chronic progressive lymphedema (CPL) is a disease of some breeds of draft horse, whereby the lower legs becomes progressively more swollen.[1] There is no cure;[1] the aim of treatment is to manage the signs and slow progression of the disease. The cause of CPL is not known, although it is susp... | Chronic progressive lymphedema | None | 6,361 | wikipedia | https://en.wikipedia.org/wiki/Chronic_progressive_lymphedema | 2021-01-18T19:06:25 | {"wikidata": ["Q5113997"]} |
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency is a rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioral issues. Growth retardation, congenital heart anomal... | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | c3810406 | 6,362 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=404440 | 2021-01-23T17:41:30 | {"omim": ["615761"], "icd-10": ["Q87.0"]} |
This article is about bovine postparturient hypocalcemia. For human illness caused by ingestion of milk or meat contaminated by trematol, see Milk sickness.
Typical milk fever posture; cow in sternal recumbency with its head tucked into its flank.
Milk fever, postparturient hypocalcemia, or parturient paresis is a ... | Milk fever | c0030612 | 6,363 | wikipedia | https://en.wikipedia.org/wiki/Milk_fever | 2021-01-18T18:35:51 | {"mesh": ["D010319"], "wikidata": ["Q1934459"]} |
A number sign (#) is used with this entry because distal myopathy-1 (MPD1), also known as Laing distal myopathy, is caused by heterozygous mutation in the MYH7 gene (160760), which encodes the myosin heavy chain of type 1 fibers of skeletal muscle and cardiac ventricles, on chromosome 14q11.
The MYH7 gene is mut... | MYOPATHY, DISTAL, 1 | c4552004 | 6,364 | omim | https://www.omim.org/entry/160500 | 2019-09-22T16:37:42 | {"doid": ["0070197"], "mesh": ["D049310"], "omim": ["160500"], "orphanet": ["59135"], "synonyms": ["Distal myopathy type 1", "MYOPATHY, LATE DISTAL HEREDITARY", "Gowers disease", "Alternative titles", "MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT", "MPD1", "LAING DISTAL MYOPATHY"], "genereviews": ["NBK1433"]} |
A number sign (#) is used with this entry because Meckel syndrome type 5 (MKS5) is caused by homozygous or compound heterozygous mutation in the RPGRIP1L gene (610937) on chromosome 16q12.
For a general description of Meckel syndrome, see MKS1 (249000).
See also Joubert syndrome-7 (JBTS7; 611560), an allelic disord... | MECKEL SYNDROME, TYPE 5 | c0265215 | 6,365 | omim | https://www.omim.org/entry/611561 | 2019-09-22T16:03:07 | {"doid": ["0070119"], "omim": ["611561"], "orphanet": ["564"]} |
Cornell's sign
Differential diagnosisPyramidal tract lesions
Cornell's sign is a clinical sign in which scratching along the inner side of the extensor hallucis longus tendon elicits an extensor plantar reflex. It is found in patients with pyramidal tract lesions, and is one of a number of Babinski-like respon... | Cornell's sign | None | 6,366 | wikipedia | https://en.wikipedia.org/wiki/Cornell%27s_sign | 2021-01-18T19:01:09 | {"wikidata": ["Q5171488"]} |
## Description
Since the initial discovery of the human electroencephalogram (EEG) by Berger (1929), it has been speculated that neural oscillations play a broad role in nervous systems and form the basis for higher cognitive functions and consciousness. The presence of a beta/gamma oscillation (18 to 50 Hz) is... | ELECTROENCEPHALOGRAPHIC PATTERN, BETA FREQUENCY, QUANTITATIVE TRAIT LOCUS | c3549684 | 6,367 | omim | https://www.omim.org/entry/130190 | 2019-09-22T16:41:46 | {"omim": ["130190"]} |
A number sign (#) is used with this entry because severe congenital neutropenia-1 (SCN1) is caused by heterozygous mutation in the neutrophil elastase gene (ELANE; 130130) on chromosome 19p13.
See also cyclic neutropenia (162800), which is an allelic disorder.
Description
Severe congenital neutropenia is a heterog... | NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT | c1859966 | 6,368 | omim | https://www.omim.org/entry/202700 | 2019-09-22T16:31:22 | {"mesh": ["C565969"], "omim": ["202700"], "orphanet": ["486"], "synonyms": [], "genereviews": ["NBK1533"]} |
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: "Small fiber peripheral neuropathy" – news · newspapers · books · scholar · JSTOR (October 2009) (Learn how and when to ... | Small fiber peripheral neuropathy | c3276706 | 6,369 | wikipedia | https://en.wikipedia.org/wiki/Small_fiber_peripheral_neuropathy | 2021-01-18T19:03:21 | {"mesh": ["D000071075"], "icd-10": ["G63.3", "G62.8", "G60.8"], "wikidata": ["Q2642518"]} |
Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp.
## Epidemiology
Prevalence is unknown but HSS has been described in multiple members (males and females) of several large families.
## Clinical description
Progressive hair loss generally begi... | Hypotrichosis simplex of the scalp | c1840299 | 6,370 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90368 | 2021-01-23T17:57:45 | {"mesh": ["C564143"], "omim": ["146520", "613981"], "umls": ["C1840299"], "icd-10": ["L65.8"], "synonyms": ["Hereditary hypotrichosis simplex of the scalp"]} |
An X-linked syndromic intellectual disability characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards.
## Epidemiology
Mohr-Traneb... | Mohr-Tranebjaerg syndrome | c0796074 | 6,371 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=52368 | 2021-01-23T19:03:44 | {"gard": ["8331"], "mesh": ["C535808"], "omim": ["304700"], "umls": ["C0796074"], "icd-10": ["E88.8"], "synonyms": ["DDON syndrome", "Deafness-dystonia-optic neuronopathy syndrome", "Hearing loss-dystonia-optic neuronopathy syndrome"]} |
A number sign (#) is used with this entry because of evidence that holoprosencephaly-9 (HPE9) is caused by heterozygous mutation in the GLI2 gene (165230) on chromosome 2q14.
Mutation in the GLI2 gene can also cause Culler-Jones syndrome (CJS; 615849), which is a less severe disorder.
Description
Holoprosencephaly... | HOLOPROSENCEPHALY 9 | c0751617 | 6,372 | omim | https://www.omim.org/entry/610829 | 2019-09-22T16:04:08 | {"doid": ["0110873"], "mesh": ["D016142"], "omim": ["610829"], "orphanet": ["93926", "280195", "220386", "93925", "280200", "93924", "2162"], "synonyms": ["MIH type HPE", "Middle interhemispheric fusion variant", "MIH", "Alternative titles", "Syntelencephaly", "PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES",... |
A rare hemorrhagic disorder due to a constitutional haemostatic factors defect characterized by premature lysis of hemostatic clots and a moderate bleeding tendency.
## Epidemiology
Congenital plasminogen activator inhibitor type 1 (PAI-1) prevalence and incidence remain unknown. Both partial and total PAI-1 defici... | Congenital plasminogen activator inhibitor type 1 deficiency | c2750067 | 6,373 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=465 | 2021-01-23T17:01:41 | {"gard": ["4381"], "mesh": ["C567640"], "omim": ["613329"], "umls": ["C2750067"], "icd-10": ["D68.8"], "synonyms": ["Congenital PAI-1 deficiency"]} |
Xia-Gibbs syndrome is a rare disorder of intellectual disability. People with this syndrome usually present with developmental delay (especially delays in speech), low muscule tone (hypotonia), failure to thrive, mildly unusual facial features (broad forehead, widely-spaced eyes (hypertelorism), big and low-set ears,... | Xia-Gibbs syndrome | c4014419 | 6,374 | gard | https://rarediseases.info.nih.gov/diseases/13409/xia-gibbs-syndrome | 2021-01-18T17:57:01 | {"omim": ["615829"], "orphanet": ["412069"], "synonyms": ["Autosomal dominant intellectual disability 25", "AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome", "Xia-Gibbs syndrome"]} |
Autosomal dominant polycystic kidney disease
Other namesAutosomal dominant PKD, adult-onset PKD
Polycystic kidneys
SpecialtyMedical genetics
Autosomal dominant polycystic kidney disease (ADPKD) is the most prevalent, potentially lethal, monogenic human disorder.[1] It is associated with large interfamilial... | Autosomal dominant polycystic kidney disease | c0085413 | 6,375 | wikipedia | https://en.wikipedia.org/wiki/Autosomal_dominant_polycystic_kidney_disease | 2021-01-18T18:36:20 | {"gard": ["10413"], "mesh": ["D016891"], "icd-9": ["753.13"], "icd-10": ["Q61"], "wikidata": ["Q2732398"]} |
Congenital muscular dystrophy with cerebellar involvement is a rare, congenital muscular dystrophy due to dystroglycanopathy characterized by proximal muscule weakness with a tendency for muscle hypertrophy and pseudohypertrophy, variable cognitive impairment, microcephaly, cerebellar hypoplasia with or without c... | Congenital muscular dystrophy with cerebellar involvement | c1847759 | 6,376 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=370959 | 2021-01-23T17:30:23 | {"mesh": ["C564691"], "omim": ["606612", "613151", "613155", "613156", "615351"], "icd-10": ["G71.2"], "synonyms": ["CMD with cerebellar involvement", "CMD-CRB"]} |
Diagram of the causes of mortality in the army in the East, F. Nightingale, 1858
Zymotic disease was a 19th-century medical term for acute infectious diseases,[1] especially "chief fevers and contagious diseases (e.g. typhus and typhoid fevers, smallpox, scarlet fever, measles, erysipelas, cholera, whooping-cough, d... | Zymotic disease | None | 6,377 | wikipedia | https://en.wikipedia.org/wiki/Zymotic_disease | 2021-01-18T19:10:41 | {"wikidata": ["Q8075930"]} |
A very rare mitochondrial respiratory chain deficiency characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia.
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... | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | c3278664 | 6,378 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=217371 | 2021-01-23T18:37:13 | {"omim": ["613070"], "icd-10": ["K72.0"], "synonyms": ["Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to ankylosing spondylitis can be conferred by variation in the HLA-B27 allele (142830.0001) on chromosome 6p21.3.
Description
Spondyloarthropathy (SpA), one of the commonest chronic rheumatic diseases, includes a spectrum of related d... | SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 | c1862852 | 6,379 | omim | https://www.omim.org/entry/106300 | 2019-09-22T16:45:00 | {"omim": ["106300"], "synonyms": ["Alternative titles", "ANKYLOSING SPONDYLITIS, SUSCEPTIBILITY TO", "MARIE-STRUMPELL SPONDYLITIS", "BECHTEREW SYNDROME"]} |
Spinocerebellar ataxia type 8 (SCA8) is an inherited neurodegenerative condition characterized by slowly progressive ataxia (problems with movement, balance, and coordination). This condition typically occurs in adulthood and usually progresses over decades. Common initial symptoms include dysarthria, slow speech, an... | Spinocerebellar ataxia 8 | c1837454 | 6,380 | gard | https://rarediseases.info.nih.gov/diseases/4956/spinocerebellar-ataxia-8 | 2021-01-18T17:57:35 | {"mesh": ["C537307"], "omim": ["608768", "603680"], "umls": ["C1837454"], "orphanet": ["98760"], "synonyms": ["SCA8", "Spinocerebellar ataxia type 8"]} |
Hereditary sensory and autonomic neuropathy type 1E (HSAN1E) is a progressive disorder of the central and peripheral nervous systems. Symptoms typically begin by age 20 to 35 and include sensory impairment of the lower legs and feet; loss of sweating in the hands and feet; sensorineural hearing loss; and gradual decl... | Hereditary sensory and autonomic neuropathy type 1E | c3279885 | 6,381 | gard | https://rarediseases.info.nih.gov/diseases/11927/hereditary-sensory-and-autonomic-neuropathy-type-1e | 2021-01-18T18:00:02 | {"mesh": ["C580162"], "omim": ["614116"], "orphanet": ["456318"], "synonyms": ["Hereditary sensory neuropathy with hearing loss and dementia", "HSNIE", "Hereditary sensory neuropathy-deafness-dementia syndrome", "Hereditary sensory neuropathy type IE", "Hereditary sensory neuropathy-sensorineural hearing loss-dementia ... |
Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding dif... | Fatal infantile lactic acidosis with methylmalonic aciduria | c3151476 | 6,382 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=17 | 2021-01-23T18:36:20 | {"omim": ["245400"], "icd-10": ["E71.1"]} |
A number sign (#) is used with this entry because of evidence that muscle glycogen storage disease-0 (GSD0B) is caused by homozygous mutation in the GYS1 gene (138570), which encodes muscle glycogen synthase, on chromosome 19q13.
Clinical Features
Among the offspring of consanguineous parents of Syrian origin, Koll... | GLYCOGEN STORAGE DISEASE 0, MUSCLE | c1969054 | 6,383 | omim | https://www.omim.org/entry/611556 | 2019-09-22T16:03:07 | {"mesh": ["C566917"], "omim": ["611556"], "orphanet": ["137625"], "synonyms": ["GSD type 0b", "Glycogenosis type 0b", "MUSCLE GLYCOGEN SYNTHASE DEFICIENCY", "Glycogenosis due to muscle and heart glycogen synthase deficiency", "Alternative titles", "GSD 0b", "Glycogen storage disease type 0b", "MUSCLE GLYCOGEN STORAGE D... |
Congenital eye disorder
Senior–Løken syndrome
Other namesRenal dysplasia-retinal aplasia syndrome
Senior–Løken syndrome is an autosomal recessive inherited condition
SpecialtyMedical genetics
Senior–Løken syndrome is a congenital eye disorder, first characterized in 1961.[1][2][3] It is a rare, ciliopathi... | Senior–Løken syndrome | c0403553 | 6,384 | wikipedia | https://en.wikipedia.org/wiki/Senior%E2%80%93L%C3%B8ken_syndrome | 2021-01-18T18:37:38 | {"gard": ["322"], "mesh": ["C537580"], "umls": ["C0403553"], "orphanet": ["3156"], "wikidata": ["Q4354267"]} |
A rare, genetic, movement disorder characterized by involuntary movements on one side of the body that mirror intentional movements on the opposite side of the body, which are present in various first-degree members of a family, persist beyond the first decade of life, and have no associated comorbidities.
*[v... | Familial congenital mirror movements | c1834870 | 6,385 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=238722 | 2021-01-23T18:59:25 | {"gard": ["12551"], "omim": ["157600", "614508", "616059", "618264"], "synonyms": ["Familial congenital controlateral synkinesia", "Hereditary congenital controlateral synkinesia", "Hereditary congenital mirror movements", "Isolated congenital controlateral synkinesia", "Isolated congenital mirror movements"]} |
Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.
*[v]: View this templat... | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | c1864840 | 6,386 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=168566 | 2021-01-23T18:36:21 | {"mesh": ["C566467"], "omim": ["610505"], "umls": ["C1864840"], "icd-10": ["E88.8"], "synonyms": ["Fatal mitochondrial disease due to COXPD3"]} |
For the psychological condition, see The seven-year itch.
Human disease
Scabies
Other namesSeven-year itch[1]
Magnified view of a burrowing trail of the scabies mite. The scaly patch on the left was caused by scratching and marks the mite's entry point into the skin. The mite has burrowed to the top-right, wher... | Scabies | c0024710 | 6,387 | wikipedia | https://en.wikipedia.org/wiki/Scabies | 2021-01-18T18:31:59 | {"mesh": ["D012532"], "wikidata": ["Q167178"]} |
## Summary
### Clinical characteristics.
WFS1 Wolfram syndrome spectrum disorder (WFS1-WSSD) is a progressive neurodegenerative disorder characterized by onset of diabetes mellitus (DM) and optic atrophy (OA) before age 16 years, and typically associated with other endocrine abnormalities, sensorineural hearing... | WFS1 Wolfram Syndrome Spectrum Disorder | None | 6,388 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK4144/ | 2021-01-18T20:49:51 | {"synonyms": []} |
Phosphofructokinase deficiency
Other namesGlycogen storage disease type VII or Tarui's disease[1][2]
A rendering of the human muscular form of phosphofructokinase. Mutations in the production of this enzyme are the cause of Tarui's disease.[3] The symmetry of the enzyme is a result of its tetrameric structure.
... | Phosphofructokinase deficiency | c0017926 | 6,389 | wikipedia | https://en.wikipedia.org/wiki/Phosphofructokinase_deficiency | 2021-01-18T18:28:01 | {"gard": ["5686"], "mesh": ["D006014"], "umls": ["C0017926"], "icd-9": ["271.0"], "orphanet": ["371"], "wikidata": ["Q1251847"]} |
White and Fulton (1937) described ovoid pupils that were large and reacted poorly to constricting stimuli in a woman of Russian-Jewish extraction and both of her identical twin daughters.
Eyes \- Large ovoid pupils \- Poorly pupillary reaction to constricting stimuli Inheritance \- Autosomal dominant ▲ Close
... | PUPIL, EGG-SHAPED | c1867405 | 6,390 | omim | https://www.omim.org/entry/178800 | 2019-09-22T16:35:22 | {"mesh": ["C566731"], "omim": ["178800"]} |
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: "Pipecolic acidemia" – news · newspapers · books · scholar · JSTOR (July 2008) (Learn how and when to remove this templa... | Pipecolic acidemia | c0282526 | 6,391 | wikipedia | https://en.wikipedia.org/wiki/Pipecolic_acidemia | 2021-01-18T18:31:22 | {"mesh": ["D018901"], "umls": ["C0268537"], "icd-9": ["270.7"], "orphanet": ["34"], "wikidata": ["Q7197254"]} |
A congenital vascular malformation characterized by dilation of the embryonic precursor of the vein of Galen. It is a sporadic lesion that occurs during embryogenesis.
## Epidemiology
The lesion is rare, with less than 800 cases (representing less than 10% of all cerebral arteriovenous malformations) reported s... | Vein of Galen aneurysmal malformation | c0431420 | 6,392 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1053 | 2021-01-23T19:13:02 | {"gard": ["5467"], "mesh": ["C536535"], "omim": ["618196"], "umls": ["C0431420"], "icd-10": ["Q28.2"], "synonyms": ["Vein of Galen arteriovenous malformations"]} |
Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period.
## Epidemiology
Prevalence is unknown but this form of PDHD appears to be very rare, with only three patients reported.
## Clinica... | Pyruvate dehydrogenase phosphatase deficiency | c1837429 | 6,393 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79246 | 2021-01-23T17:20:00 | {"gard": ["9888"], "mesh": ["C536258"], "omim": ["608782"], "umls": ["C1837429"], "icd-10": ["E74.4"], "synonyms": ["PDH phosphatase deficiency"]} |
Oculotrichodysplasia is characterised by retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive.
*[v]: View this template
*[t]: Discuss this template
*[... | Oculotrichodysplasia | c1850332 | 6,394 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2718 | 2021-01-23T18:27:07 | {"mesh": ["C564934"], "omim": ["257960"], "umls": ["C1850332"], "synonyms": ["Cecato de Lima-Pinheiro syndrome"]} |
Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early le... | Microcephaly-polymicrogyria-corpus callosum agenesis syndrome | None | 6,395 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=171703 | 2021-01-23T17:30:32 | {"icd-10": ["Q04.3"]} |
A rare toxic dermatosis disease characterized by the rapid development of numerous, nonfollicular, sterile, pinhead-sized pustules on an edematous and erythematous base, predominantly occurring on the trunk, intertriginous and flexural areas, with rare, mostly oral, mucosal involvement. Acute onset of fever (>38°C), ... | Acute generalized exanthematous pustulosis | c0853331 | 6,396 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=293173 | 2021-01-23T18:37:11 | {"umls": ["C0853331", "C0877055"], "synonyms": ["AGEP", "Pustular drug eruption", "Toxic pustuloderma"]} |
Delayed ejaculation
Other namesRetarded ejaculation, inhibited ejaculation
SpecialtyUrology
Delayed ejaculation describes a man's inability or persistent difficulty in achieving orgasm, despite typical sexual desire and sexual stimulation. Generally, a man can reach orgasm within a few minutes of active thru... | Delayed ejaculation | c0234047 | 6,397 | wikipedia | https://en.wikipedia.org/wiki/Delayed_ejaculation | 2021-01-18T18:37:03 | {"icd-9": ["608.89"], "icd-10": ["N53.11"], "wikidata": ["Q1142563"]} |
Hearing loss with craniofacial syndromes is a common occurrence. Many of these multianomaly disorders involve structural malformations of the outer or middle ear, making a significant hearing loss highly likely.
## Contents
* 1 Treacher Collins syndrome
* 2 Pierre Robin sequence
* 3 Stickler syndrome
* ... | Hearing loss with craniofacial syndromes | None | 6,398 | wikipedia | https://en.wikipedia.org/wiki/Hearing_loss_with_craniofacial_syndromes | 2021-01-18T19:04:35 | {"wikidata": ["Q5691660"]} |
Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displac... | Familial lambdoid synostosis | c3806917 | 6,399 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3267 | 2021-01-23T18:48:44 | {"omim": ["600775"], "icd-10": ["Q75.0"]} |
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