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Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.
## Epidemiology
Less than 20 cases have been reported so far.
## Clinical description
Main clinical features include bilateral preaxial polydactyly of hands... | Orofaciodigital syndrome type 2 | c0026363 | 5,200 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2751 | 2021-01-23T18:17:28 | {"gard": ["3701"], "mesh": ["C538585", "D009958"], "omim": ["252100"], "umls": ["C0026363", "C2931889"], "icd-10": ["Q87.0"], "synonyms": ["Mohr syndrome", "OFD2", "Oral-facial-digital syndrome type 2"]} |
A number sign (#) is used with this entry because of evidence that renal hypomagnesemia-4 (HOMG4) is caused by homozygous mutation in the EGF gene (131530) on chromosome 4q25. One such family has been reported.
For a discussion of genetic heterogeneity of renal hypomagnesemia, see 602014.
Clinical Features
Geven e... | HYPOMAGNESEMIA 4, RENAL | c2673648 | 5,201 | omim | https://www.omim.org/entry/611718 | 2019-09-22T16:03:03 | {"doid": ["0060882"], "mesh": ["C567127"], "omim": ["611718"], "orphanet": ["34527"], "synonyms": ["Alternative titles", "HYPOMAGNESEMIA, RENAL, NORMOCALCIURIC"]} |
Lennert lymphoma
Other namesLymphoepithelioid lymphoma
SpecialtyDermatology
Lennert lymphoma is a systemic T-cell lymphoma that presents with cutaneous skin lesions roughly 10% of the time.[1]:739
It is also known as "lymphoepithelioid variant of peripheral T-cell lymphoma".[2]
It was first characterized i... | Lennert lymphoma | c1621719 | 5,202 | wikipedia | https://en.wikipedia.org/wiki/Lennert_lymphoma | 2021-01-18T18:43:39 | {"umls": ["C1621719"], "wikidata": ["Q6522771"]} |
Wilson disease is an inherited disorder in which excessive amounts of copper accumulate in the body, particularly in the liver, brain, and eyes. The signs and symptoms of Wilson disease usually first appear between the ages of 6 and 45, but they most often begin during the teenage years. The features of this cond... | Wilson disease | c0019202 | 5,203 | medlineplus | https://medlineplus.gov/genetics/condition/wilson-disease/ | 2021-01-27T08:25:10 | {"gard": ["7893"], "mesh": ["D006527"], "omim": ["277900"], "synonyms": []} |
A rare photodermatosis characterized by the development of pruritic or painful vesicles in a photodistributed pattern in response to sunlight exposure. The lesions heal with permanent varioliform scarring. Ocular involvement, deformities of ears and nose, or contractures of the fingers may occasionally be observed. S... | Hydroa vacciniforme | c0020241 | 5,204 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=330058 | 2021-01-23T17:23:46 | {"gard": ["9654"], "mesh": ["D006837"], "umls": ["C0020241"], "icd-10": ["L56.4"]} |
A number sign (#) is used with this entry because congenital disorder of glycosylation type IIa (CDG IIa, CDG2A) is caused by homozygous or compound heterozygous mutation in the gene encoding GlcNAc-T II (MGAT2; 602616) on chromosome 14q21.
Description
Congenital disorders of glycosylation (CDGs) are a genetically ... | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa | c2931008 | 5,205 | omim | https://www.omim.org/entry/212066 | 2019-09-22T16:30:07 | {"doid": ["0070253"], "mesh": ["C535752"], "omim": ["212066"], "orphanet": ["79329"], "synonyms": ["Alternative titles", "CDG IIa", "ALKURAYA SYNDROME", "MENTAL RETARDATION, GROWTH RETARDATION, PROMINENT COLUMELLA, AND OPEN MOUTH", "CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE II, FORMERLY"], "genereviews": ["NBK... |
A number sign (#) is used with this entry because Werner syndrome is caused by homozygous or compound heterozygous mutation in the RECQL2 gene (604611), which encodes a homolog of the E. coli RecQ DNA helicase, on chromosome 8p12.
See also Hutchinson-Gilford progeria syndrome (HGPS; 176670), a more severe progeroid ... | WERNER SYNDROME | c0043119 | 5,206 | omim | https://www.omim.org/entry/277700 | 2019-09-22T16:21:11 | {"doid": ["5688"], "mesh": ["D014898"], "omim": ["277700"], "orphanet": ["902"], "genereviews": ["NBK1514"]} |
## Summary
### Clinical characteristics.
DYRK1A-related intellectual disability syndrome is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly. Affected individuals often have a clinically ... | DYRK1A-Related Intellectual Disability Syndrome | None | 5,207 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK333438/ | 2021-01-18T21:31:17 | {"synonyms": []} |
KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as... | KCNQ2-related epileptic encephalopathy | c3150986 | 5,208 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=439218 | 2021-01-23T18:34:41 | {"omim": ["613720"], "icd-10": ["G40.4"], "synonyms": ["KCNQ2-NEE", "KCNQ2-related neonatal epileptic encephalopathy"]} |
Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia.
## Epidemiology
Prevalence is unknown. About 8 cases have been reported to date.
## Clinical description
Patien... | Pyruvate dehydrogenase E1-beta deficiency | c3279841 | 5,209 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=255138 | 2021-01-23T17:20:04 | {"mesh": ["C566729"], "omim": ["614111"], "umls": ["C3279841"], "icd-10": ["E74.4"], "synonyms": ["PDHBD", "Pyruvate dehydrogenase complex E1 component subunit beta deficiency"]} |
A number sign (#) is used with this entry because of evidence that early infantile epileptic encephalopathy-70 (EIEE70) is caused by heterozygous mutation in the PHACTR1 gene (608723) on chromosome 6p24.
For a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350).
Clinical Features
De Ligt et al. (2012) ... | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70 | c0037769 | 5,210 | omim | https://www.omim.org/entry/618298 | 2019-09-22T15:42:43 | {"mesh": ["D013036"], "omim": ["618298"], "orphanet": ["3451"]} |
Frontal fibrosing alopecia (FFA) is a form of lichen planopilaris that is characterized primarily by slowly progressive hair loss (alopecia) and scarring on the scalp near the forehead. In some cases, the eyebrows, eye lashes and/or other parts of the body may be involved, as well. Although it has been suggested that... | Frontal fibrosing alopecia | c1274700 | 5,211 | gard | https://rarediseases.info.nih.gov/diseases/10886/frontal-fibrosing-alopecia | 2021-01-18T18:00:25 | {"orphanet": ["254492"], "synonyms": ["FFA"]} |
A number sign (#) is used with this entry because of evidence that nephronophthisis-20 (NPHP20) is caused by homozygous or compound heterozygous mutation in the MAPKBP1 gene (616786) on chromosome 15q15.
Description
Nephronophthisis-20 is an autosomal recessive tubulointerstitial nephritis characterized by progress... | NEPHRONOPHTHISIS 20 | c0687120 | 5,212 | omim | https://www.omim.org/entry/617271 | 2019-09-22T15:46:21 | {"doid": ["0111127"], "omim": ["617271"], "orphanet": ["655", "93589"]} |
Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations (ADTKD-MUC1) is an inherited disorder that causes a gradual loss of kidney function. This may lead to the need for dialysis or kidney transplant usually between the ages of 30 and 70. This condition is not associated with any symptoms outside ... | Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations | c1868139 | 5,213 | gard | https://rarediseases.info.nih.gov/diseases/7002/autosomal-dominant-tubulointerstitial-kidney-disease-due-to-muc1-mutations | 2021-01-18T18:01:56 | {"mesh": ["C536137"], "omim": ["174000"], "umls": ["C1868139"], "orphanet": ["88949"], "synonyms": ["MCKD1", "Medullary cystic kidney disease type 1", "MUC1-related autosomal dominant medullary cystic kidney disease", "MUCI-related ADTKD", "MUC1-related autosomal dominant tubulointerstitial kidney disease", "Medullary ... |
Goodman et al. (1975) described 2 families in which offspring of unaffected consanguineous parents had a particularly severe form of cleidocranial dysplasia. Spinal anomalies were present and the affected persons were dwarfed.
HEENT \- Brachycephaly Growth \- Dwarfism Inheritance \- Severe autosomal recessive for... | CLEIDOCRANIAL DYSPLASIA, RECESSIVE FORM | c0008928 | 5,214 | omim | https://www.omim.org/entry/216330 | 2019-09-22T16:29:31 | {"doid": ["13994"], "mesh": ["D002973"], "omim": ["216330"], "orphanet": ["1452"]} |
Adipomastia
Other namesLipomastia, fatty breasts
A male with probable comorbid gynecomastia and pseudogynecomastia.
SpecialtyPlastic surgery
Adipomastia, also known colloquially as fatty breasts,[1] is a condition defined as an excess of skin and adipose tissue in the breasts without true breast glandular ... | Adipomastia | c4049281 | 5,215 | wikipedia | https://en.wikipedia.org/wiki/Adipomastia | 2021-01-18T18:40:17 | {"umls": ["C4049281"], "wikidata": ["Q1827380"]} |
Genetic disorder characterized by high cholesterol levels
Familial hypercholesterolemia
Other namesFamilial hypercholesterolaemia
Xanthelasma palpebrarum, yellowish patches consisting of cholesterol deposits above the eyelids. These are more common in people with FH.
SpecialtyEndocrinology
Familial hy... | Familial hypercholesterolemia | c0020445 | 5,216 | wikipedia | https://en.wikipedia.org/wiki/Familial_hypercholesterolemia | 2021-01-18T18:32:23 | {"gard": ["10416"], "mesh": ["D006938"], "umls": ["C0549399", "C0020445"], "orphanet": ["406"], "wikidata": ["Q2711291"]} |
A number sign (#) is used with this entry because dystonia-24 (DYT24) is caused by heterozygous mutation in the ANO3 gene (610110) on chromosome 11p14.
Description
Dystonia-24 is an autosomal dominant form of focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs (summary by Charle... | DYSTONIA 24 | c3554374 | 5,217 | omim | https://www.omim.org/entry/615034 | 2019-09-22T15:53:18 | {"doid": ["0090052"], "omim": ["615034"], "orphanet": ["420485"], "synonyms": ["DYT24", "Dystonia 24"]} |
Ollier disease is a skeletal disorder characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths may lead to skeletal deformities, limb discrepancy, and fractures. The enchondromas primarily occur in the limb bones, especially the bones of... | Ollier disease | c0014084 | 5,218 | gard | https://rarediseases.info.nih.gov/diseases/7251/ollier-disease | 2021-01-18T17:58:36 | {"mesh": ["D004687"], "omim": ["166000"], "orphanet": ["296"], "synonyms": ["Dyschondroplasia", "Enchondromatosis", "Multiple cartilaginous enchondroses", "Multiple enchondromatosis"]} |
Ischemic hepatitis
Other namesIschemic hepatopathy , Shock liver
Liver(anatomical section)
SymptomsMental confusion[1]
CausesHeart failure, Infection[2]
Diagnostic methodDoppler ultrasound, Blood test[2]
TreatmentResuscitation(acute), Stabilize underlining illness(chronic)[3]
Ischemic hepatitis, also... | Ischemic hepatitis | c0473117 | 5,219 | wikipedia | https://en.wikipedia.org/wiki/Ischemic_hepatitis | 2021-01-18T18:32:55 | {"umls": ["C0473117"], "icd-10": ["K72.0"], "wikidata": ["Q6079228"]} |
A number sign (#) is used with this entry because of evidence that severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) is caused by heterozygous mutation in the gene encoding fibroblast growth factor receptor-3 (FGFR3; 134934) on chromosome 4p16.
Clinical Features
Tavormina et al. (... | ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS | c2674173 | 5,220 | omim | https://www.omim.org/entry/616482 | 2019-09-22T15:48:47 | {"doid": ["0111158"], "mesh": ["D000130"], "omim": ["616482"], "orphanet": ["85165"], "synonyms": ["Alternative titles", "SADDAN DYSPLASIA"]} |
Radium jaw or radium necrosis is a historic occupational disease brought on by the ingestion and subsequent absorption of radium into the bones of radium dial painters.[1][2] It also affected those consuming radium-laden patent medicines. The symptoms are necrosis of the mandible (lower jawbone) and the maxilla (uppe... | Radium jaw | None | 5,221 | wikipedia | https://en.wikipedia.org/wiki/Radium_jaw | 2021-01-18T19:08:22 | {"wikidata": ["Q7281381"]} |
Psychogenic pain
Other namesPsychalgia[1]
SpecialtyPsychiatry
Psychogenic pain is physical pain that is caused, increased, or prolonged by mental, emotional, or behavioral factors.[2][3][4]
Headache, back pain, or stomach pain are some of the most common types of psychogenic pain.[2] It may occur, rarely, i... | Psychogenic pain | c0152174 | 5,222 | wikipedia | https://en.wikipedia.org/wiki/Psychogenic_pain | 2021-01-18T18:41:40 | {"icd-9": ["307.8"], "icd-10": ["F45.4"], "wikidata": ["Q695954"]} |
A number sign (#) is used with this entry because of evidence that Leber congenital amaurosis-16 (LCA16) is caused by homozygous mutation in the KCNJ13 gene (603208) on chromosome 2q37.
For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000)... | LEBER CONGENITAL AMAUROSIS 16 | c0339527 | 5,223 | omim | https://www.omim.org/entry/614186 | 2019-09-22T15:56:13 | {"doid": ["0110118"], "mesh": ["D057130"], "omim": ["614186"], "orphanet": ["65"], "genereviews": ["NBK531510"]} |
For a discussion of genetic heterogeneity of quantitative trait loci for stature (STQTL), see STQTL1 (606255).
Mapping
To identify genetic loci associated with adult height, Axenovich et al. (2009) analyzed 2,486 genotyped and phenotyped individuals in a large pedigree including 23,612 members in 18 generations. Th... | STATURE QUANTITATIVE TRAIT LOCUS 24 | c3150795 | 5,224 | omim | https://www.omim.org/entry/613549 | 2019-09-22T15:58:18 | {"omim": ["613549"]} |
Esthiomene
Esthiomene
Esthiomene is a medical term referring to elephantiasis of the female genitals.[1][2] In the past the term has also referred to elephantiasis of the male genitalia.[3]
Esthiomene is generally the visible result of lymphogranuloma venereum, lymphatic infection by Chlamydia trachomatis. Th... | Esthiomene | c0014903 | 5,225 | wikipedia | https://en.wikipedia.org/wiki/Esthiomene | 2021-01-18T18:46:07 | {"umls": ["C0014903"], "wikidata": ["Q5401338"]} |
## Summary
### Clinical characteristics.
Pseudoachondroplasia is characterized by normal length at birth and normal facies. Often the presenting feature is a waddling gait, recognized at the onset of walking. Typically, the growth rate falls below the standard growth curve by approximately age two years, leadin... | Pseudoachondroplasia | c0410538 | 5,226 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1487/ | 2021-01-18T21:01:24 | {"mesh": ["C535819"], "synonyms": ["PSACH"]} |
A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-66 (RP66) is caused by homozygous mutation in the RBP3 gene (180290) on chromosome 10q11. One such family has been reported.
For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa (... | RETINITIS PIGMENTOSA 66 | c0035334 | 5,227 | omim | https://www.omim.org/entry/615233 | 2019-09-22T15:52:58 | {"doid": ["0110393"], "mesh": ["D012174"], "omim": ["615233"], "orphanet": ["791"]} |
Placental infarction
Micrograph of a placental infarct. H&E stain.
SpecialtyObstetrics
A placental infarction results from the interruption of blood supply to a part of the placenta, causing its cells to die.
Small placental infarcts, especially at the edge of the placental disc, are considered to be normal... | Placental infarction | c0554393 | 5,228 | wikipedia | https://en.wikipedia.org/wiki/Placental_infarction | 2021-01-18T18:30:30 | {"wikidata": ["Q7200298"]} |
Baritosis is an extremely rare, benign form of pneumoconiosis that causes little or no overgrowth, hardening, and/or scarring of the tissue in the lung (fibrosis). Pneumoconiosis is caused by accumulation of inhaled particles and involves a reaction of tissue in the lung. In the case of baritosis, the inhaled par... | Baritosis | c0340177 | 5,229 | gard | https://rarediseases.info.nih.gov/diseases/8371/baritosis | 2021-01-18T18:01:52 | {"mesh": ["C537080"], "umls": ["C0340177"], "synonyms": ["Inhalation of barytes", "Deposition of barium in the lungs"]} |
Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysm... | Mosaic trisomy 4 | c4272018 | 5,230 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=96059 | 2021-01-23T17:17:43 | {"icd-10": ["Q92.1"], "synonyms": ["Mosaic trisomy chromosome 4", "Trisomy 4 mosaicism"]} |
Accumulation of excess fluid in the pleural cavity
Pleural effusion
Diagram of fluid buildup in the pleura
SpecialtyPulmonology
A pleural effusion is accumulation of excessive fluid in the pleural space, the potential space that surrounds each lung. Under normal conditions, pleural fluid are secreted by the... | Pleural effusion | c0032227 | 5,231 | wikipedia | https://en.wikipedia.org/wiki/Pleural_effusion | 2021-01-18T18:55:21 | {"mesh": ["D010996"], "umls": ["C0032227"], "icd-9": ["511.9"], "icd-10": ["J90", "J91"], "wikidata": ["Q1334541"]} |
A number sign (#) is used with this entry because of evidence that mutation at more than one locus can be involved in different families or even in the same case. Breast-ovarian cancer-1 (BROVCA1; 604370) can be caused by mutation in the BRCA1 gene (113705) on chromosome 17q, BROVCA2 (600185) by mutation in the B... | BREAST CANCER | c0346153 | 5,232 | omim | https://www.omim.org/entry/114480 | 2019-09-22T16:43:50 | {"doid": ["1612"], "mesh": ["C562840"], "omim": ["114480"], "icd-10": ["C50-C50", "C50"], "orphanet": ["227535"], "synonyms": ["Alternative titles", "BREAST CANCER, FAMILIAL"], "genereviews": ["NBK1247"]} |
A number sign (#) is used with this entry because of evidence that isolated colobomatous microphthalmia-7 (MCOPCB7) is caused by heterozygous mutation in the ABCB6 gene (605452) on chromosome 2q35.
For a discussion of genetic heterogeneity of isolated colobomatous microphthalmia, see MCOPCB1 (300345).
Mapping
In m... | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 | c2931501 | 5,233 | omim | https://www.omim.org/entry/614497 | 2019-09-22T15:55:00 | {"mesh": ["C537463"], "omim": ["614497"], "orphanet": ["98938"]} |
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.
*[v]: View this template
*[t]: Discuss this... | Trichomegaly-retina pigmentary degeneration-dwarfism syndrome | c1848745 | 5,234 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3363 | 2021-01-23T18:13:03 | {"gard": ["5266"], "mesh": ["C536554"], "omim": ["275400"], "umls": ["C1848745"], "synonyms": ["Long eyelashes-intellectual disability syndrome", "Oliver-McFarlane syndrome"]} |
A number sign (#) is used with this entry because of evidence that spermatogenic failure-23 (SPGF23) is caused by homozygous mutation in the TEX14 gene (605792) on chromosome 17q23.
For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Clinical Fe... | SPERMATOGENIC FAILURE 23 | c4540185 | 5,235 | omim | https://www.omim.org/entry/617707 | 2019-09-22T15:45:02 | {"omim": ["617707"]} |
A number sign (#) is used with this entry because autosomal recessive cutis laxa type IIA (ARCL2A) is caused by homozygous or compound heterozygous mutations in the ATP6V0A2 gene (611716), which encodes the alpha-2 subunit of the V-type H+ ATPase, on chromosome 12q24. The occurrence of mutations in the same gene in w... | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA | c0268355 | 5,236 | omim | https://www.omim.org/entry/219200 | 2019-09-22T16:29:09 | {"doid": ["0070134"], "mesh": ["C562632"], "omim": ["219200"], "orphanet": ["357058", "357074"], "synonyms": ["Alternative titles", "ARCL2", "CUTIS LAXA WITH CONGENITAL DISORDER OF GLYCOSYLATION", "CUTIS LAXA WITH GROWTH AND DEVELOPMENTAL DELAY", "CUTIS LAXA, DEBRE TYPE", "CUTIS LAXA WITH BONE DYSTROPHY", "CUTIS LAXA W... |
## Summary
### Clinical characteristics.
COL1A1/2 osteogenesis imperfecta (COL1A1/2-OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-OI represent a continuum ranging from perinatal lethality... | COL1A1/2 Osteogenesis Imperfecta | c0029434 | 5,237 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1295/ | 2021-01-18T21:37:33 | {"mesh": ["D010013"], "synonyms": ["Brittle Bone Disease", "OI"]} |
feeling of unease and insecurity experienced in learning or using a foreign language
[1]Foreign language anxiety, also known as xenoglossophobia, is the feeling of unease, worry, nervousness and apprehension experienced in learning or using a second or foreign language. The feelings may stem from any second language... | Foreign language anxiety | None | 5,238 | wikipedia | https://en.wikipedia.org/wiki/Foreign_language_anxiety | 2021-01-18T18:30:16 | {"wikidata": ["Q5468412"]} |
Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS, see this term). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.
## Epidemiology
Reported prevalence ranges from... | Localized epidermolysis bullosa simplex | c0080333 | 5,239 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79400 | 2021-01-23T19:02:36 | {"gard": ["2146"], "mesh": ["D016110"], "omim": ["131800"], "umls": ["C0080333"], "icd-10": ["Q81.0"], "synonyms": ["EBS-loc", "Epidermolysis bullosa simplex of palms and soles", "Epidermolysis bullosa simplex, Weber-Cockayne type"]} |
Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI, see this term) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.
## Epidemiology
The prevalence is unknown.
## Clinical description
Symptoms usually develop between 1 and ... | Hereditary central diabetes insipidus | c0687720 | 5,240 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=30925 | 2021-01-23T18:03:01 | {"mesh": ["D020790"], "omim": ["125700", "304900"], "icd-10": ["E23.2"], "synonyms": ["Hereditary CDI", "Hereditary neurogenic diabetes insipidus"]} |
Granulosa cell tumor of the ovary is a rare type of ovarian cancer that accounts for approximately 2% of all ovarian tumors. This type of tumor is known as a sex cord-stromal tumor and usually occurs in adults. Granulosa cell tumors of the ovary cause higher than normal levels of estrogen in a woman's body. The sympt... | Granulosa cell tumor of the ovary | c1370419 | 5,241 | gard | https://rarediseases.info.nih.gov/diseases/8642/granulosa-cell-tumor-of-the-ovary | 2021-01-18T18:00:12 | {"mesh": ["C537296"], "umls": ["C1370419"], "synonyms": ["GCT of the ovary", "Granulosa theca cell tumor", "GTCT", "Adult granulosa cell tumor of the ovary", "Granulosa theca cell tumor of the ovary"]} |
A number sign (#) is used with this entry because Charcot-Marie-Tooth disease type 2P (CMT2P) can be caused by homozygous or heterozygous mutation in the LRSAM1 gene (610933) on chromosome 9q33.
For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).
Clinical Featu... | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P | c3280797 | 5,242 | omim | https://www.omim.org/entry/614436 | 2019-09-22T15:55:16 | {"doid": ["0110169"], "omim": ["614436"], "orphanet": ["300319"], "synonyms": ["CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G, FORMERLY", "Alternative titles", "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2P", "CMT2P"]} |
Skin disease
Sebaceous adenitis and hair loss in a dog
Sebaceous adenitis in an uncommon skin disease found in some breeds of dog, and more rarely in cats, rabbits and horses.[1] characterised by an inflammatory response against the dog's sebaceous glands (glands found in the hair follicles in the skin dermis), whi... | Sebaceous adenitis | c3670767 | 5,243 | wikipedia | https://en.wikipedia.org/wiki/Sebaceous_adenitis | 2021-01-18T18:30:31 | {"wikidata": ["Q1344999"]} |
A number sign (#) is used with this entry because of evidence that Weill-Marchesani syndrome-3 (WMS3) is caused by homozygous mutation in the LTBP2 gene (602091) on chromosome 14q24. One such family has been reported.
Description
Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short ... | WEILL-MARCHESANI SYNDROME 3 | c0265313 | 5,244 | omim | https://www.omim.org/entry/614819 | 2019-09-22T15:54:11 | {"doid": ["0050475"], "mesh": ["D056846"], "omim": ["614819"], "orphanet": ["3449"], "genereviews": ["NBK1114"]} |
Foix–Chavany–Marie syndrome
Other namesFacio-pharyngo-glosso-masticatory diplegia
Operculum (brain)
SpecialtyNeurology
Foix-Chavany-Marie Syndrome (FCMS), also known as Bilateral Opercular Syndrome, is a neuropathological disorder characterized by paralysis of the facial, tongue, pharynx, and masticatory m... | Foix–Chavany–Marie syndrome | c2931412 | 5,245 | wikipedia | https://en.wikipedia.org/wiki/Foix%E2%80%93Chavany%E2%80%93Marie_syndrome | 2021-01-18T18:47:57 | {"gard": ["2351"], "mesh": ["C537069"], "umls": ["C2931412"], "orphanet": ["2048"], "wikidata": ["Q1435202"]} |
A number sign (#) is used with this entry because retinitis pigmentosa-11 (RP11) is caused by heterozygous mutation in the PRPF31 gene (606419) on chromosome 19q13.
Description
Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of retinal dystrophies characterized by a progressive deg... | RETINITIS PIGMENTOSA 11 | c0035334 | 5,246 | omim | https://www.omim.org/entry/600138 | 2019-09-22T16:16:33 | {"doid": ["0110408"], "mesh": ["D012174"], "omim": ["600138"], "orphanet": ["791"], "genereviews": ["NBK1417"]} |
A number sign (#) is used with this entry because of evidence that Pitt-Hopkins syndrome (PTHS) is caused by heterozygous mutation in the TCF4 gene (602272) on chromosome 18q21.
Description
The Pitt-Hopkins syndrome is characterized by mental retardation, wide mouth and distinctive facial features, and intermittent... | PITT-HOPKINS SYNDROME | c1970431 | 5,247 | omim | https://www.omim.org/entry/610954 | 2019-09-22T16:03:53 | {"doid": ["0060488"], "mesh": ["C537403"], "omim": ["610954"], "orphanet": ["2896"], "synonyms": ["Alternative titles", "ENCEPHALOPATHY, SEVERE EPILEPTIC, WITH AUTONOMIC DYSFUNCTION", "MENTAL RETARDATION, SYNDROMAL, WITH INTERMITTENT HYPERVENTILATION"], "genereviews": ["NBK100240"]} |
Human disease (bacterial infection of the skin)
Erysipelas
Other namesIgnis sacer, holy fire, St. Anthony's fire
Erysipelas of the face due to invasive Streptococcus
Pronunciation
* /ɛrɪˈsɪpələs/
SpecialtyDermatology, Infectious disease
Erysipelas, is a relatively common bacterial infection of t... | Erysipelas | c0014733 | 5,248 | wikipedia | https://en.wikipedia.org/wiki/Erysipelas | 2021-01-18T18:56:40 | {"gard": ["6370"], "mesh": ["D004886"], "umls": ["C0014733"], "wikidata": ["Q207092"]} |
Guttate psoriasis
Back torso lesions, 30-year-old female patient
SpecialtyDermatology
Guttate psoriasis (also known as eruptive psoriasis) is a type of psoriasis that presents as small (0.5–1.5 cm in diameter) lesions over the upper trunk and proximal extremities; it is found frequently in young adults.[... | Guttate psoriasis | c0343052 | 5,249 | wikipedia | https://en.wikipedia.org/wiki/Guttate_psoriasis | 2021-01-18T18:56:09 | {"gard": ["10569"], "umls": ["C0343052"], "icd-10": ["L40.4"], "wikidata": ["Q5621891"]} |
## Summary
### Clinical characteristics.
Recessive multiple epiphyseal dysplasia (EDM4/rMED) is characterized by joint pain (usually in the hips or knees); malformations of hands, feet, and knees; and scoliosis. Approximately 50% of affected individuals have an abnormal finding at birth, e.g., clubfoot, clinoda... | Multiple Epiphyseal Dysplasia, Recessive | c1847593 | 5,250 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1306/ | 2021-01-18T21:10:09 | {"mesh": ["C535504"], "synonyms": ["EDM4", "rMED"]} |
Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment.
## Epidemiology
Worldwide birth prevalence is thought to be <1/40,000. In the... | Dravet syndrome | c0751122 | 5,251 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=33069 | 2021-01-23T17:54:03 | {"gard": ["10430"], "mesh": ["D004831"], "omim": ["607208", "612164", "615744"], "umls": ["C0751122"], "icd-10": ["G40.4"], "synonyms": ["SMEI", "Severe myoclonic epilepsy of infancy", "Severe myoclonus epilepsy of infancy"]} |
Term describing the finding of symmetrical joint swelling seen in patients with congenital syphilis
Clutton's joints is a term describing the finding of symmetrical joint swelling seen in patients with congenital syphilis. It most commonly affects the knees, presenting with synovitis and joint effusions (collections... | Clutton's joints | c0239075 | 5,252 | wikipedia | https://en.wikipedia.org/wiki/Clutton%27s_joints | 2021-01-18T18:49:03 | {"icd-10": ["M03.1"], "wikidata": ["Q1103561"]} |
Homocystinuria refers to a group of inherited disorders in which the body is unable to process certain building blocks of proteins (amino acids) properly. This leads to increased amounts of homocysteine and other amnio acids in the blood and urine. The most common type of genetic homocystinuria, called CBS defici... | Homocystinuria | c0019880 | 5,253 | gard | https://rarediseases.info.nih.gov/diseases/10770/homocystinuria | 2021-01-18T17:59:58 | {"mesh": ["D006712"], "synonyms": []} |
Inclusion body myositis (IBM) is a progressive muscle disorder characterized by muscle inflammation, weakness, and atrophy (wasting). It is a type of inflammatory myopathy. IBM develops in adulthood, usually after age 50. The symptoms and rate of progression vary from person to person. The most common symptoms includ... | Inclusion body myositis | c0238190 | 5,254 | gard | https://rarediseases.info.nih.gov/diseases/3896/inclusion-body-myositis | 2021-01-18T17:59:47 | {"mesh": ["D018979"], "omim": ["147421"], "orphanet": ["611"], "synonyms": ["IBM", "Inflammatory myopathy", "Sporadic inclusion body myositis"]} |
Most people suffer from a form of fear of medical procedures during their life. There are many different aspects of this fear and not everyone has every part. Some of these parts include fear of surgery, fear of dental work, and fear of doctors. These fears are often overlooked, but when a patient has one to the extr... | Fear of medical procedures | None | 5,255 | wikipedia | https://en.wikipedia.org/wiki/Fear_of_medical_procedures | 2021-01-18T18:47:07 | {"wikidata": ["Q5439395"]} |
Rickets is a condition that causes children to have soft, weak bones. It usually occurs when children do not get enough vitamin D, which helps growing bones absorb important nutrients. Vitamin D comes from sunlight and food. Skin produces vitamin D in response to the sun's rays. Some foods also contain vitamin D, inc... | Rickets | c0035579 | 5,256 | gard | https://rarediseases.info.nih.gov/diseases/5700/rickets | 2021-01-18T17:57:54 | {"mesh": ["D012279"], "synonyms": ["Vitamin-D deficiency rickets", "Nutritional rickets", "Hypovitaminosis D", "Vitamin D deficiency disease"]} |
A number sign (#) is used with this entry because of evidence that Parkinson disease-1 (PARK1) is caused by heterozygous mutation in the alpha-synuclein gene (SNCA; 163890) on chromosome 4q22.
See also dementia with Lewy bodies (127750), an allelic disorder with overlapping clinical features.
Description
Parkinson... | PARKINSON DISEASE 1, AUTOSOMAL DOMINANT | c1850100 | 5,257 | omim | https://www.omim.org/entry/168601 | 2019-09-22T16:36:34 | {"doid": ["0060367"], "mesh": ["C538104"], "omim": ["168601"], "orphanet": ["411602", "171695"], "synonyms": ["PARKINSON DISEASE 1, AUTOSOMAL DOMINANT LEWY BODY", "Alternative titles", "Autosomal dominant late-onset Parkinson disease", "LOPD"], "genereviews": ["NBK1223"]} |
Anxiety/aggression-driven depression (also known as 5-HT related depression) is a proposed subtype of Major depressive disorder first proposed by the Dutch psychiatrist Herman M. van Praag in 1996. Van Praag has continued to write on this topic in subsequent academic articles.
## Onset and symptoms[edit]
This propo... | Anxiety/aggression-driven depression | None | 5,258 | wikipedia | https://en.wikipedia.org/wiki/Anxiety/aggression-driven_depression | 2021-01-18T18:38:59 | {"wikidata": ["Q4778101"]} |
For other uses, see RCC (disambiguation).
Renal cell carcinoma
Micrograph of the most common type of renal cell carcinoma (clear cell)—on right of the image; non-tumour kidney is on the left of the image. Nephrectomy specimen. H&E stain
SpecialtyOncology
Renal cell carcinoma (RCC) is a kidney cancer that or... | Renal cell carcinoma | c0007134 | 5,259 | wikipedia | https://en.wikipedia.org/wiki/Renal_cell_carcinoma | 2021-01-18T18:38:17 | {"gard": ["13215"], "mesh": ["D002292"], "umls": ["C0007134"], "icd-9": ["189.0"], "icd-10": ["C64"], "orphanet": ["217071"], "wikidata": ["Q1164529"]} |
For a phenotypic description and a discussion of genetic heterogeneity of bipolar disorder, see 125480.
Bipolar disorder (BPAD) is a severe psychiatric disorder that manifests with alternating episodes of mania and depression. Age at onset (AAO) is a potential clinical marker of genetic heterogeneity in BPAD. Li... | MAJOR AFFECTIVE DISORDER 3 | c1864994 | 5,260 | omim | https://www.omim.org/entry/609633 | 2019-09-22T16:05:46 | {"mesh": ["C566501"], "omim": ["609633"], "synonyms": ["Alternative titles", "BIPOLAR AFFECTIVE DISORDER, EARLY-ONSET"]} |
LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites.
## Epidemiology
Prevalence is unknown... | LOC syndrome | c1328355 | 5,261 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2407 | 2021-01-23T18:19:45 | {"gard": ["368"], "mesh": ["C537032"], "omim": ["245660"], "umls": ["C1328355"], "icd-10": ["Q81.8"], "synonyms": ["LOGIC syndrome", "Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome", "Laryngo-onycho-cutaneous syndrome", "Shabbir syndrome"]} |
Hemophilia B is a form of hemophilia (see this term) characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency.
## Epidemiology
Prevalence is estimated at around 1 in 30,000 males. Hemophilia primarily affects males, but a symptomatic form of hemophilia B in female carriers (see this term) h... | Hemophilia B | c0008533 | 5,262 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98879 | 2021-01-23T19:06:57 | {"gard": ["8732"], "mesh": ["D002836"], "omim": ["306900"], "umls": ["C0008533"], "icd-10": ["D67"], "synonyms": ["Christmas disease", "Factor IX deficiency"]} |
Koller et al. (1979) described an apparently 'new' dominant disorder characterized by cortical thickening of the diaphyses of long bones and bowing of femurs and tibias in a family from northern Norway. Six persons in 2 generations were affected. All 6 had ichthyosis and 3 also had an unusual proclivity to fractures.... | OSTEOSCLEROSIS WITH ICHTHYOSIS AND FRACTURES | c1833697 | 5,263 | omim | https://www.omim.org/entry/166740 | 2019-09-22T16:36:50 | {"mesh": ["C563483"], "omim": ["166740"], "synonyms": ["Alternative titles", "CORTICAL THICKENING OF LONG BONES WITH BOWING AND ICHTHYOSIS"]} |
Craniosynostosis–anal anomalies–porokeratosis syndrome
SpecialtyDermatology
Craniosynostosis–anal anomalies–porokeratosis syndrome (also known as "CAP syndrome") is a cutaneous condition inherited in an autosomal recessive fashion.[1]
## See also[edit]
* Cerebral dysgenesis–neuropathy–ichthyosis–keratoderm... | Craniosynostosis–anal anomalies–porokeratosis syndrome | c1864186 | 5,264 | wikipedia | https://en.wikipedia.org/wiki/Craniosynostosis%E2%80%93anal_anomalies%E2%80%93porokeratosis_syndrome | 2021-01-18T18:43:18 | {"mesh": ["C536789"], "umls": ["C1864186"], "orphanet": ["85199"], "wikidata": ["Q5182151"]} |
A rare bacterial infectious disease caused by Francisella tularensis and characterized by six major clinical presentations: ulceroglandular, glandular, oropharyngeal, oculoglandular, pneumonic, or typhoidal, depending on the route of infection. Early flu-like symptoms are common to all forms and are accompanied/f... | Tularemia | c0041351 | 5,265 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3392 | 2021-01-23T17:15:15 | {"gard": ["396"], "mesh": ["D014406"], "umls": ["C0041351"], "icd-10": ["A21.0", "A21.1", "A21.2", "A21.3", "A21.7", "A21.8", "A21.9"]} |
Ulegyria is a diagnosis used to describe a specific type of cortical scarring in the deep regions of the sulcus that leads to distortion of the gyri. Ulegyria is identified by its characteristic "mushroom-shaped" gyri, in which scarring causes shrinkage and atrophy in the deep sulcal regions while the surface gyri ar... | Ulegyria | c0266488 | 5,266 | wikipedia | https://en.wikipedia.org/wiki/Ulegyria | 2021-01-18T18:33:10 | {"umls": ["C0266488"], "icd-9": ["742.4"], "wikidata": ["Q7878831"]} |
Melanocytic tumors of uncertain malignant potential (MELTUMP) are melanocytic lesions in the dermis that cannot be classified by morphology as either benign naevi (moles) or malignant melanomas because the mass shows features of both.
Several lesion types may be classified as MELTUMPs: these include atypical melanoc... | Melanocytic tumors of uncertain malignant potential | None | 5,267 | wikipedia | https://en.wikipedia.org/wiki/Melanocytic_tumors_of_uncertain_malignant_potential | 2021-01-18T18:43:57 | {"umls": ["CL973832"], "wikidata": ["Q17141487"]} |
Tuomaala and Haapanen (1968) described a Finnish family in which 2 sisters and a brother had an identical syndrome of congenital anodontia, small maxilla giving an impression of mandibular prognathism, short stature with particular shortening of the metacarpals and metatarsals, little hair growth, albinoidism, an... | BRACHYMETAPODY-ANODONTIA-HYPOTRICHOSIS-ALBINOIDISM | c1859385 | 5,268 | omim | https://www.omim.org/entry/211370 | 2019-09-22T16:30:20 | {"mesh": ["C565893"], "omim": ["211370"], "orphanet": ["2713"], "synonyms": ["Alternative titles", "ANODONTIA-HYPOTRICHOSIS SYNDROME", "OCULOOSTEOCUTANEOUS SYNDROME"]} |
Hereditary coproporphyria (HCP) is a rare inherited form of liver (hepatic) porphyria, characterized by neurological symptoms in the form of episodes (acute attacks) of stomach pain, nausea, vomiting, weakness, numbness, and pain in the hands and feet (neuropathy). The porphyrias are a group of blood conditions cause... | Hereditary coproporphyria | c0162531 | 5,269 | gard | https://rarediseases.info.nih.gov/diseases/6619/hereditary-coproporphyria | 2021-01-18T18:00:04 | {"mesh": ["D046349"], "omim": ["121300"], "orphanet": ["79273"], "synonyms": ["Coproporphyria", "Coproporphyria hereditary", "Hereditary coproporphyria porphyria", "Porphyria hepatica coproporphyria", "Porphyria hepatica II", "HCP", "Coproporphyrinogen oxidase deficiency", "CPO deficiency", "CPRO deficiency", "CPX defi... |
Histiocytosis-lymphadenopathy plus syndrome is a group of conditions with overlapping signs and symptoms that affect many parts of the body. This group of disorders includes H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID), Faisalabad histiocytosis, and familial Rosai-Dorfman disea... | Histiocytosis-lymphadenopathy plus syndrome | c1864445 | 5,270 | gard | https://rarediseases.info.nih.gov/diseases/10239/histiocytosis-lymphadenopathy-plus-syndrome | 2021-01-18T18:00:00 | {"mesh": ["C538322"], "omim": ["602782"], "umls": ["C1864445"], "orphanet": ["168569"], "synonyms": ["HJCD", "Faisalabad histiocytosis", "H syndrome", "Histiocytosis with joint contractures and sensorineural deafness", "SLC29A3 spectrum disorder"]} |
Degenerative disease that affects sheep and goats
Not to be confused with Scrapy.
Ewe with scrapie with weight loss and hunched appearance
Same ewe as above with bare patches on rear end from scraping
Scrapie (/ˈskreɪpi/) is a fatal, degenerative disease affecting the nervous systems of sheep and goats.[1] It is ... | Scrapie | c0036457 | 5,271 | wikipedia | https://en.wikipedia.org/wiki/Scrapie | 2021-01-18T18:37:13 | {"mesh": ["D012608"], "umls": ["C0036457"], "wikidata": ["Q170102"]} |
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This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be c... | Cyclic vomiting syndrome | c0152164 | 5,272 | wikipedia | https://en.wikipedia.org/wiki/Cyclic_vomiting_syndrome | 2021-01-18T19:05:40 | {"gard": ["6230"], "mesh": ["C536228"], "umls": ["C0152164", "C1838992", "C1838991"], "icd-9": ["536.2"], "icd-10": ["G43.A0"], "wikidata": ["Q1857905"]} |
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. (February 2019)
Opioid-induced endocrinopathy (OIE) is a complication of chronic opioid treatment.[1][2][3] It is a common name for all hypothalamo-pi... | Opioid-induced endocrinopathy | None | 5,273 | wikipedia | https://en.wikipedia.org/wiki/Opioid-induced_endocrinopathy | 2021-01-18T18:56:21 | {"wikidata": ["Q61861225"]} |
Dislocation of hip (coxofemoral luxation) may occur in domestic animals.
It is a not rare condition, usually unilateral, in:
* cattle, among others, after calving.
* dogs, resulting from trauma or as a complication of hip dysplasia.
The same illness also exists in human medicine.
The condition can be observed... | Dislocation of hip in animals | None | 5,274 | wikipedia | https://en.wikipedia.org/wiki/Dislocation_of_hip_in_animals | 2021-01-18T18:54:33 | {"wikidata": ["Q5282338"]} |
Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. Argininosuccinic aciduria usua... | Argininosuccinic aciduria | c0268547 | 5,275 | gard | https://rarediseases.info.nih.gov/diseases/5843/argininosuccinic-aciduria | 2021-01-18T18:02:03 | {"mesh": ["D056807"], "omim": ["207900"], "umls": ["C0268547"], "orphanet": ["23"], "synonyms": ["Arginino succinase deficiency", "Inborn error of urea synthesis, arginino succinic type", "Urea cycle disorder, arginino succinase type", "Argininosuccinate lyase deficiency", "ASL deficiency", "ASA deficiency", "Argininos... |
Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity.
## Epidemiology
Prevalence is estimated at between 1/10,000 and 1/20,000.
## Clinical description
Age at diagnosi... | Osteogenesis imperfecta | c0023931 | 5,276 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=666 | 2021-01-23T18:39:14 | {"gard": ["1017"], "mesh": ["D010013"], "omim": ["166200", "166210", "166220", "166230", "259420", "259440", "610682", "610915", "610967", "610968", "613848", "613849", "613982", "614856", "615066", "615220", "616229", "616507"], "umls": ["C0023931", "C0029434", "C0268360", "C1859069"], "icd-10": ["Q78.0"], "synonyms":... |
Infectious disease in humans
This article needs to be updated. Please update this article to reflect recent events or newly available information. (July 2014)
Psittacosis
Direct fluorescent antibody stain of a mouse brain impression smear showing C. psittaci
SpecialtyInfectious medicine
Pulmonology
P... | Psittacosis | c0029291 | 5,277 | wikipedia | https://en.wikipedia.org/wiki/Psittacosis | 2021-01-18T18:58:38 | {"gard": ["7492"], "mesh": ["D009956"], "umls": ["C0029291"], "wikidata": ["Q164727"]} |
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: "Eclabium" – news · newspapers · books · scholar · JSTOR (July 2018) (Learn how and when to remove this template mes... | Eclabium | c3550430 | 5,278 | wikipedia | https://en.wikipedia.org/wiki/Eclabium | 2021-01-18T18:47:50 | {"umls": ["C3550430"], "wikidata": ["Q5332940"]} |
Consumption of urine
This article is part of a series on
Alternative medicine
General information
* Alternative medicine
* Alternative veterinary medicine
* Quackery (Health fraud)
* History of alternative medicine
* Rise of modern medicine
* Pseudoscience
* Antiscience
* Skepticism
* Skept... | Urophagia | None | 5,279 | wikipedia | https://en.wikipedia.org/wiki/Urophagia | 2021-01-18T18:28:47 | {"wikidata": ["Q1779312"]} |
A rare, congenital disorder of glycosylation caused by mutations in the COG2 gene and characterized by normal presentation at birth, followed by progressive deterioration with postnatal microcephaly, developmental delay, intellectual disability, seizures, spastic quadriplegia, liver dysfunction, hypocupremia and hypo... | COG2-CDG | c4479353 | 5,280 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=435934 | 2021-01-23T17:23:28 | {"omim": ["617395"], "icd-10": ["E77.8"], "synonyms": ["COG2-related congenital disorder of glycosylation"]} |
A number sign (#) is used with this entry because Hurthle cell tumors are associated with chromosomal abnormalities or mutations in the RAS gene (190020), the PAX8/PPARG fusion gene (see 167415), or the NDUFA13 gene (609435).
Description
Hurthle cell carcinoma of the thyroid accounts for approximately 3% of all thy... | THYROID CARCINOMA, HURTHLE CELL | c0238463 | 5,281 | omim | https://www.omim.org/entry/607464 | 2019-09-22T16:09:14 | {"doid": ["8161"], "mesh": ["D000077273"], "omim": ["607464"], "orphanet": ["146"], "synonyms": ["Alternative titles", "HURTHLE CELL THYROID NEOPLASIA"]} |
Leukoplakia
Other namesLeucoplakia,[1] leukokeratosis,[1] idiopathic leukoplakia,[2] leukoplasia,[1] idiopathic keratosis,[3] idiopathic white patch[3]
Leukoplakia on the inside of the cheek
SpecialtyOtolaryngology, dentistry
SymptomsFirmly attached white patch on a mucous membrane, changes with time[4][5][6]... | Leukoplakia | c0023531 | 5,282 | wikipedia | https://en.wikipedia.org/wiki/Leukoplakia | 2021-01-18T18:36:18 | {"gard": ["6897"], "mesh": ["D007971"], "umls": ["C0023531"], "icd-9": ["528.6", "622.2", "607.0", "530.83", "624.0", "623.1"], "icd-10": ["N88.0", "N90.4", "K13.2", "N48.0", "N89.4"], "wikidata": ["Q838145"]} |
Terry's nails
Terry's nails
SpecialtyInternal medicine, Dermatology
Diagnostic methodPhysical examination
Differential diagnosisLiver failure, cirrhosis, diabetes mellitus, congestive heart failure, hyperthyroidism, or malnutrition
TreatmentDirected at underlying condition
Terry's nails is a physic... | Terry's nails | None | 5,283 | wikipedia | https://en.wikipedia.org/wiki/Terry%27s_nails | 2021-01-18T19:01:09 | {"wikidata": ["Q7704017"]} |
Part of a series on
Doping in sport
Substances and types
* Anabolic steroids
* Blood doping
* Gene doping
* Cannabinoids
* Diuretics
* Painkillers
* Sedatives
* Stem cell doping
* Stimulants
* Beta2-adrenergic agonist
* Clenbuterol
* Ephedrine
* EPO
* Human growth hormone... | Doping in Russia | None | 5,284 | wikipedia | https://en.wikipedia.org/wiki/Doping_in_Russia | 2021-01-18T18:45:30 | {"wikidata": ["Q44013763"]} |
In utero onset was noted by Badr El-Din (1960), who described the condition in sibs as a familial convulsive disorder. Other features were mental retardation, generalized hypertonus, reflex myoclonus, and death in the first year. Winkelman and Moore (1942) described a single case with antenatal onset. Liu and Syl... | CONVULSIVE DISORDER, FAMILIAL, WITH PRENATAL OR EARLY ONSET | c1857575 | 5,285 | omim | https://www.omim.org/entry/217200 | 2019-09-22T16:29:25 | {"mesh": ["C565678"], "omim": ["217200"]} |
Pang et al. (1986) described 2 sisters with lid retraction on adduction, the classic sign of levator-oculomotor synkinesis. In both women the left eye was involved. There was no history of trauma or ocular surgery and there were no complaints of diplopia. Both sisters had good visual acuity and full ocular motility. ... | LEVATOR-MEDIAL RECTUS SYNKINESIS | c1835403 | 5,286 | omim | https://www.omim.org/entry/151610 | 2019-09-22T16:38:57 | {"mesh": ["C563625"], "omim": ["151610"], "synonyms": ["Alternative titles", "OCULOMOTOR-LEVATOR SYNKINESIS"]} |
A psychological disorder derived from parental depression
Paternal depression
Other namesPostpartum depression, Postnatal depression
SpecialtyPsychiatry
SymptomsAnxiety, extreme sadness, substance abuse, irritability, violence, risky behavior, anger attacks
ComplicationsRelationships with partner and childre... | Paternal depression | None | 5,287 | wikipedia | https://en.wikipedia.org/wiki/Paternal_depression | 2021-01-18T19:08:24 | {"wikidata": ["Q64485022"]} |
Bech-Hansen et al. (1981) studied a family in which members had had a diversity of neoplasms over 6 generations (originally reported by Blattner et al., 1979). Two members had neoplasms of possible radiogenic origin. Gamma-irradiation survival studies of cultured skin fibroblasts in these 2 patients and in 3 other re... | CANCER, FAMILIAL, WITH IN VITRO RADIORESISTANCE | c1861915 | 5,288 | omim | https://www.omim.org/entry/114450 | 2019-09-22T16:43:52 | {"mesh": ["C566179"], "omim": ["114450"]} |
For references, see 152200.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid recept... | LIPOPROTEIN TYPES--Lt SYSTEM | c1835359 | 5,289 | omim | https://www.omim.org/entry/152300 | 2019-09-22T16:38:49 | {"omim": ["152300"]} |
Cotton and Harris (1962) reported a brother and sister with pyridoxine-responsive sideroblastic anemia. Inheritance was not consistent with the more common X-linked form (XLSA; 300751) and autosomal recessive inheritance was proposed.
Kasturi et al. (1982) reported severe sideroblastic anemia with moderate hepatospl... | ANEMIA, SIDEROBLASTIC, PYRIDOXINE-RESPONSIVE, AUTOSOMAL RECESSIVE | c1859787 | 5,290 | omim | https://www.omim.org/entry/206000 | 2019-09-22T16:31:05 | {"mesh": ["C565954"], "omim": ["206000"], "synonyms": ["Alternative titles", "ANEMIA, CONGENITAL SIDEROBLASTIC, B6-RESPONSIVE"]} |
Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.
## Epidemiology
Reported incidence ranges are 1/2,500,000 and 1/1,470,000 live births in the Unite... | Junctional epidermolysis bullosa, generalized severe | c0079683 | 5,291 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79404 | 2021-01-23T18:44:20 | {"gard": ["2153"], "mesh": ["D016109"], "omim": ["226700"], "umls": ["C0079683"], "icd-10": ["Q81.1"], "synonyms": ["Epidermolysis bullosa letalis", "JEB, generalized severe", "JEB-H", "Junctional epidermolysis bullosa generalisata gravis", "Junctional epidermolysis bullosa, Herlitz type", "Junctional epidermolysis bul... |
Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate muco... | Isolated delta-storage pool disease | None | 5,292 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=248340 | 2021-01-23T17:24:19 | {"icd-10": ["D69.1"], "synonyms": ["Isolated delta-SPD", "Isolated dense-SPD", "Isolated dense-storage pool disease"]} |
Urachal cancer is a type of bladder cancer, making up less than 1% of all bladder cancers. The urachus is a structure normally only present during development in the womb that connects the bellybutton and the bladder. This connection normally disappears before birth, but in some people remains. Urachal cancers are us... | Urachal cancer | c2931202 | 5,293 | gard | https://rarediseases.info.nih.gov/diseases/7836/urachal-cancer | 2021-01-18T17:57:13 | {"mesh": ["C536475"], "umls": ["C2931202"], "synonyms": ["Urachal carcinoma"]} |
Van den Bosch syndrome is characterized by intellectual deficit, choroideremia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion.
*[v]: View this... | Van den Bosch syndrome | c0796192 | 5,294 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3417 | 2021-01-23T19:10:51 | {"gard": ["5453"], "mesh": ["C563129"], "omim": ["314500"], "umls": ["C0796192"]} |
A rare, systemic, autoimmune disease characterized by inflammation in any organ system, with onset prior to adulthood, presenting highly variable clinical manifestations, which usually have a more aggressive course and higher rate of major organ involvement than adult-onset systemic lupus erythematosus, resulting in ... | Pediatric systemic lupus erythematosus | None | 5,295 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93552 | 2021-01-23T17:17:55 | {"icd-10": ["M32.0", "M32.1", "M32.8", "M32.9"], "synonyms": ["SLE, pediatric onset"]} |
Brazilian hemorrhagic fever, caused by the Sabia virus (a newly discovered arenavirus), is a viral hemorrhagic fever, believed to originate from Sao Paulo, Brazil, with only 3 reported cases (2 of which were due to laboratory accidents) to date, characterized by fever, nausea vomiting myalgia tremors, and hemorragic ... | Brazilian hemorrhagic fever | c0343633 | 5,296 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=319239 | 2021-01-23T18:37:08 | {"umls": ["C0343633"], "icd-10": ["A96.8"], "synonyms": ["Sabia hemorrhagic fever"]} |
MEN type 2A (Sipple syndrome)
Other namesMEN2
Bilateral pheochromocytomas associated with Multiple endocrine neoplasia type 2
SpecialtyOncology
Multiple endocrine neoplasia type 2 (also known as "Pheochromocytoma and amyloid producing medullary thyroid carcinoma",[1] "PTC syndrome,"[1] and "Sipple syndrome... | Multiple endocrine neoplasia type 2 | c1833921 | 5,297 | wikipedia | https://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_2 | 2021-01-18T18:50:13 | {"gard": ["4881"], "mesh": ["C536911", "D018813"], "umls": ["C1833921"], "orphanet": ["247698", "653"], "wikidata": ["Q604075"]} |
A number sign (#) is used with this entry because of evidence that Diamond-Blackfan anemia-like (DBAL) is caused by homozygous mutation in the EPO gene (133170) on chromosome 7q21. One such family has been reported.
Clinical Features
Kim et al. (2017) reported a 6-year-old boy, born of consanguineous Turkish pa... | DIAMOND-BLACKFAN ANEMIA-LIKE | c4693556 | 5,298 | omim | https://www.omim.org/entry/617911 | 2019-09-22T15:44:28 | {"omim": ["617911"]} |
Congenital deafness with vitiligo and achalasia is a syndrome characterized by deafness present from birth (congenital), associated with short stature, vitiligo, muscle wasting and achalasia (swallowing difficulties). The condition was described in a brother and sister born to first cousin parents. It is believed to ... | Congenital deafness with vitiligo and achalasia | c1857339 | 5,299 | gard | https://rarediseases.info.nih.gov/diseases/1705/congenital-deafness-with-vitiligo-and-achalasia | 2021-01-18T18:01:10 | {"mesh": ["C565642"], "omim": ["221350"], "orphanet": ["3239"], "synonyms": ["Deafness vitiligo achalasia"]} |
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