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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 challenged and removed.
Find sources: "Fazio–Londe disease" – news · newspapers · books · scholar · JSTOR (July 2008) (Learn how and when to remove this t... | Fazio–Londe disease | c0015708 | 5,900 | wikipedia | https://en.wikipedia.org/wiki/Fazio%E2%80%93Londe_disease | 2021-01-18T18:58:38 | {"mesh": ["D010244"], "umls": ["C0015708"], "icd-9": ["335.2"], "icd-10": ["G12.1"], "orphanet": ["56965"], "wikidata": ["Q1399155"]} |
Nystagmus
Horizontal optokinetic nystagmus, a normal (physiological) form of nystagmus
SpecialtyNeurology, ophthalmology
Nystagmus is a condition of involuntary (or voluntary, in some cases)[1] eye movement, acquired in infancy or later in life, that may result in reduced or limited vision.[2] Due to the... | Nystagmus | c0271390 | 5,901 | wikipedia | https://en.wikipedia.org/wiki/Nystagmus | 2021-01-18T18:37:26 | {"mesh": ["D009760"], "icd-9": ["379.50", "794.14"], "icd-10": ["H55", "H81.4"], "wikidata": ["Q220989"]} |
Pityriasis lichenoides et varioliformis acuta (PLEVA) is the acute form of an inflammatory skin condition called pityriasis lichenoides. People with PLEVA may develop a few to more than one hundred scaling papules which may become filled with blood and/or pus, or erode into crusted red-brown spots. Papules may it... | Pityriasis lichenoides et varioliformis acuta | c0162852 | 5,902 | gard | https://rarediseases.info.nih.gov/diseases/9768/pityriasis-lichenoides-et-varioliformis-acuta | 2021-01-18T17:58:18 | {"mesh": ["D017514"], "umls": ["C0162852"], "synonyms": ["PLEVA", "Mucha-Habermann disease"]} |
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia.
## Epidemiology
It has been described in seven patients from three families of a small Bedouin clan.
## Clinical description
Dysmorphic features incl... | 2p21 microdeletion syndrome | c1848030 | 5,903 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=163693 | 2021-01-23T19:09:39 | {"mesh": ["C564710"], "omim": ["606407"], "icd-10": ["Q93.5"], "synonyms": ["2p21 deletion syndrome", "Del(2)(p21)", "Monosomy 2p21"]} |
Surgically correctable forms of primary aldosteronism (also known as primary hyperaldosteronism; see this term) are characterized by unilateral aldosterone hypersecretion and renin suppression, associated with varying degrees of hypertension and hypokalemia.
## Epidemiology
The prevalence of primary aldosteronism i... | Rare surgically correctable form of primary aldosteronism | None | 5,904 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=231637 | 2021-01-23T17:25:20 | {} |
## Clinical Features
Graves et al. (1979) described 2 brothers with identical HLA haplotypes and allergic bronchopulmonary aspergillosis. A barn near the residence of the brothers was identified as the probable source. Vithayasai et al. (1973) also reported familial allergic aspergillosis. However, in 35 unrelated ... | ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS, FAMILIAL | c0004031 | 5,905 | omim | https://www.omim.org/entry/103920 | 2019-09-22T15:41:17 | {"doid": ["13166"], "mesh": ["D001229"], "omim": ["103920"], "orphanet": ["1164"]} |
Branchiootorenal (BOR) syndrome is a condition that disrupts the development of tissues in the neck and causes malformations of the ears and kidneys. The signs and symptoms of this condition vary widely, even among members of the same family. Branchiootic (BO) syndrome includes many of the same features as BOR syndro... | Branchiootorenal/branchiootic syndrome | c1865143 | 5,906 | medlineplus | https://medlineplus.gov/genetics/condition/branchiootorenal-branchiootic-syndrome/ | 2021-01-27T08:25:18 | {"gard": ["10148", "10147"], "mesh": ["C537104"], "omim": ["602588", "120502", "608389", "113650", "610896"], "synonyms": []} |
A rare, aggressive, malignant, epithelial carcinoma of the esophagus characterized, macroscopically, by an exophytic mass with central ulceration located on the esophagus and, histologically, by a sheet-like growth of neoplastic cells without significant glandular, squamous or neuroendocrine differentiation. Patients... | Undifferentiated carcinoma of esophagus | c2188058 | 5,907 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=418951 | 2021-01-23T17:46:31 | {"icd-10": ["C15.0", "C15.1", "C15.2", "C15.3", "C15.4", "C15.5", "C15.8"], "synonyms": ["Undifferentiated esophageal carcinoma"]} |
A rare X-linked syndromic intellectual disability characterized by congenital sensorineural hearing loss, varying degrees of intellectual disability, short stature, and dysmorphic facial features (such as telecanthus, epicanthic folds, broad nasal root, malar hypoplasia, low-set ears, dental anomalies, and micrognath... | Deafness-intellectual disability syndrome, Martin-Probst type | c1845285 | 5,908 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85321 | 2021-01-23T18:58:15 | {"mesh": ["C564495"], "omim": ["300519"], "umls": ["C1845285"], "icd-10": ["Q87.8"], "synonyms": ["Hearing loss-intellectual disability syndrome, Martin-Probst type", "Martin-Probst syndrome", "X-linked deafness-intellectual disability syndrome syndrome", "X-linked hearing loss-intellectual disability syndrome syndrome... |
Lowry and MacLean (1977) reported the case of a 29-month-old Caucasian girl with mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis, and growth failure. Cohen (1978) dubbed this cleft syndrome as Lowry-MacLean syndrome and classified it as a previously unre... | LOWRY-MACLEAN SYNDROME | c0796020 | 5,909 | omim | https://www.omim.org/entry/600252 | 2019-09-22T16:16:28 | {"mesh": ["C537037"], "omim": ["600252"], "orphanet": ["2409"]} |
A number sign (#) is used with this entry because of evidence that myopia-25 (MYP25) is caused by heterozygous mutation in the P4HA2 gene (600608) on chromosome 5q31.
Description
Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and tho... | MYOPIA 25, AUTOSOMAL DOMINANT | c4310655 | 5,910 | omim | https://www.omim.org/entry/617238 | 2019-09-22T15:46:23 | {"omim": ["617238"]} |
A number sign (#) is used with this entry because microphthalmia with brain and digital anomalies (MCOPS6) is caused by heterozygous mutation in the gene encoding bone morphogenetic protein-4 (BMP4; 112262) on chromosome 14q22.
Clinical Features
Bennett et al. (1991) described a 21-week female fetus with histologic... | MICROPHTHALMIA, SYNDROMIC 6 | c1864689 | 5,911 | omim | https://www.omim.org/entry/607932 | 2019-09-22T16:08:30 | {"doid": ["10629"], "mesh": ["C566440"], "omim": ["607932"], "orphanet": ["139471"], "synonyms": ["Alternative titles", "MICROPHTHALMIA AND PITUITARY ANOMALIES", "MICROPHTHALMIA WITH BRAIN AND DIGIT DEVELOPMENTAL ANOMALIES", "ANOPHTHALMIA, CLINICAL, WITH MICROGNATHIA, MALFORMED EARS, DIGITAL ANOMALIES, AND ABNORMAL EXT... |
Eccrine mucinosis
SpecialtyDermatology
Eccrine mucinosis is a cutaneous condition characterized by mucinosis, and described in HIV-infected patients.[1]
## See also[edit]
* Perifollicular mucinosis
* List of cutaneous conditions
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, ... | Eccrine mucinosis | None | 5,912 | wikipedia | https://en.wikipedia.org/wiki/Eccrine_mucinosis | 2021-01-18T18:29:39 | {"wikidata": ["Q5332315"]} |
An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, and characterized by the onset of flulike symptoms such as fever, malaise, headache, cough, and sore throat that can progress to meningitis or encephalitis with symptoms like nausea, vomiting, confusion,... | St. Louis encephalitis | c0014060 | 5,913 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=83484 | 2021-01-23T17:34:23 | {"mesh": ["D004674"], "umls": ["C0014060"], "icd-10": ["A83.3"], "synonyms": ["Saint Louis encephalitis"]} |
A number sign (#) is used with this entry because of evidence that catecholaminergic polymorphic ventricular tachycardia-4 (CPVT4) is caused by heterozygous mutation in the calmodulin gene (CALM1; 114180) on chromosome 14q32.
For a general phenotypic description and a discussion of genetic heterogeneity of CPVT, see... | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 | c1631597 | 5,914 | omim | https://www.omim.org/entry/614916 | 2019-09-22T15:53:45 | {"doid": ["0060678"], "mesh": ["C536334"], "omim": ["614916"], "orphanet": ["3286"], "genereviews": ["NBK1289"]} |
A number sign (#) is used with this entry because autosomal recessive mental retardation-39 (MRT39) is caused by homozygous mutation in the TTI2 gene (614426) on chromosome 8p12.
Clinical Features
Langouet et al. (2013) reported 3 sibs, born of consanguineous Algerian parents, with mental retardation and behavioral... | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 | c3809853 | 5,915 | omim | https://www.omim.org/entry/615541 | 2019-09-22T15:51:47 | {"doid": ["0060308"], "omim": ["615541"], "orphanet": ["391307"], "synonyms": []} |
Persistent thyroglossal duct
Origin of Thyroglossal duct (Thyroid diverticulum)
SpecialtyMedical genetics
A persistent thyroglossal duct is a usually benign medical condition in which the thyroglossal duct, a structure usually only found during embryonic development, fails to atrophy. The duct persists as a ... | Persistent thyroglossal duct | c0266286 | 5,916 | wikipedia | https://en.wikipedia.org/wiki/Persistent_thyroglossal_duct | 2021-01-18T18:59:45 | {"umls": ["C0266286"], "icd-9": ["759.2"], "icd-10": ["Q89.2"], "wikidata": ["Q7170423"]} |
A rare, genetic, multiple congenital malformation syndrome, characterized by cleidocranial dysplasia (wide fontanelles, calvaria dysostosis, absent or hypoplastic clavicles), absent thumbs and halluces, hypoplastic distal and medial phalanges of fingers, pelvic dysplasia with hip dislocations. Dysmorphic features... | Yunis-Varon syndrome | c1857663 | 5,917 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3472 | 2021-01-23T17:33:06 | {"gard": ["331"], "mesh": ["C536719"], "omim": ["216340"], "umls": ["C1857663"], "icd-10": ["Q87.8"], "synonyms": ["Cleidocranial dysplasia-micrognathia-absent thumbs syndrome"]} |
Conduplicato corpore is a condition that occurs during birth if the fetus is quite small and the pelvis is large. Spontaneous delivery may occur despite persistence of the abnormal lie.[1]
In such cases, the fetus is compressed with the head forced against the abdomen.[2] A portion of the thoracic wall below the sho... | Conduplicato corpore | None | 5,918 | wikipedia | https://en.wikipedia.org/wiki/Conduplicato_corpore | 2021-01-18T19:04:44 | {"wikidata": ["Q5159418"]} |
CATSPER1-related nonsyndromic male infertility is a condition that affects the function of sperm, leading to an inability to father children. Males with this condition produce sperm that have decreased movement (motility). Affected men may also produce a smaller than usual number of sperm cells or sperm cells that ar... | CATSPER1-related nonsyndromic male infertility | c2751811 | 5,919 | medlineplus | https://medlineplus.gov/genetics/condition/catsper1-related-nonsyndromic-male-infertility/ | 2021-01-27T08:25:09 | {"mesh": ["C567832"], "omim": ["612997"], "synonyms": []} |
HIV/AIDS is considered the deadliest epidemic in the 21st century. It is transmitted through sex, intravenous drug use and mother-to-child transmission. Zambia is experiencing a generalized HIV/AIDS epidemic, with a national HIV prevalence rate of 11.3% among adults ages 15 to 49 as of 2018.[1] Per the 2000 Zambian c... | HIV/AIDS in Zambia | None | 5,920 | wikipedia | https://en.wikipedia.org/wiki/HIV/AIDS_in_Zambia | 2021-01-18T18:31:32 | {"wikidata": ["Q5629895"]} |
## Description
Body mass index (BMI), which reflects the amount of fat, lean mass, and body build, is a heterogeneous trait influenced by both genetic and environmental factors. Several studies have estimated the heritability of body mass index to be 40 to 55% (Bouchard et al., 1998; Rice et al., 1999).
For di... | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 1 | c3888010 | 5,921 | omim | https://www.omim.org/entry/606641 | 2019-09-22T16:10:17 | {"omim": ["606641"], "synonyms": ["Alternative titles", "BODY MASS INDEX"]} |
## Description
Saccharopinuria, also known as hyperlysinemia type II, is an autosomal recessive metabolic condition with few, if any, clinical manifestations. Hyperlysinemia type II and hyperlysinemia type I (238700) both result from deficiency of the bifunctional enzyme AASS (605113) on chromosome 7q31. The AASS g... | SACCHAROPINURIA | c0268556 | 5,922 | omim | https://www.omim.org/entry/268700 | 2019-09-22T16:22:30 | {"mesh": ["D020167"], "omim": ["268700"], "orphanet": ["3124"], "synonyms": ["Alternative titles", "HYPERLYSINEMIA, TYPE II", "SACCHAROPINE DEHYDROGENASE DEFICIENCY", "ALPHA-AMINOADIPIC SEMIALDEHYDE SYNTHASE DEFICIENCY"]} |
Attention deficit hyperactivity disorder predominantly inattentive
Other namesAttention deficit disorder (without hyperactivity)[1][2]
SpecialtyPsychiatry
MedicationStimulant medication
Attention deficit hyperactivity disorder predominantly inattentive (ADHD-PI or ADHD-I),[3] is one of the three presentati... | Attention deficit hyperactivity disorder predominantly inattentive | None | 5,923 | wikipedia | https://en.wikipedia.org/wiki/Attention_deficit_hyperactivity_disorder_predominantly_inattentive | 2021-01-18T18:33:02 | {"icd-10": ["F90.0"], "wikidata": ["Q1993146"]} |
Corneal perforation
SpecialtyOphthalmology
SymptomsDifficulty seeing, eye pain
Diagnostic methodSeidel test
TreatmentTissue adhesive, pressure bandage, or lamellar keratoplasty
Corneal perforation is an anomaly in the cornea resulting from damage to the corneal surface. A corneal perforation means th... | Corneal perforation | c0339293 | 5,924 | wikipedia | https://en.wikipedia.org/wiki/Corneal_perforation | 2021-01-18T19:09:28 | {"mesh": ["D057112"], "umls": ["C0339293", "C0948060"], "icd-10": ["S05.3"], "wikidata": ["Q5171111"]} |
The globulomaxillary cyst is a cyst that appears between a maxillary lateral incisor and the adjacent canine. It exhibits as an "inverted pear-shaped radiolucency" on radiographs, or X-ray films.
The globulomaxillary cyst often causes the roots of adjacent teeth to diverge.
This cyst should not be confused with a n... | Globulomaxillary cyst | c0266102 | 5,925 | wikipedia | https://en.wikipedia.org/wiki/Globulomaxillary_cyst | 2021-01-18T18:37:36 | {"umls": ["C0266102"], "wikidata": ["Q5571105"]} |
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: "Glycogen storage disease type I" – news · newspapers · books · scholar · JSTOR (February 2009) (Learn how and when ... | Glycogen storage disease type I | c0017920 | 5,926 | wikipedia | https://en.wikipedia.org/wiki/Glycogen_storage_disease_type_I | 2021-01-18T18:33:56 | {"mesh": ["D005953"], "umls": ["C0017920"], "icd-9": ["271.0"], "wikidata": ["Q630090"]} |
Anemia caused by medical interventions
Iatrogenic anemia
Other namesNosocomial anemia, hospital-acquired anemia
Excessive blood draws are a major cause of iatrogenic anemia.[1]
CausesRepeated blood draws; surgical and medical procedures; intravenous fluid administration[2]
PreventionDrawing smaller volum... | Iatrogenic anemia | c4524091 | 5,927 | wikipedia | https://en.wikipedia.org/wiki/Iatrogenic_anemia | 2021-01-18T19:07:46 | {"umls": ["CL525512"], "wikidata": ["Q96381887"]} |
A number sign (#) is used with this entry because of evidence that familial hypertrophic cardiomyopathy-3 (CMH3) is caused by heterozygous mutation in the alpha-tropomyosin gene (TPM1; 191010) on chromosome 15q22.
For a general phenotypic description and a discussion of genetic heterogeneity of hypertrophic card... | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 | c1861863 | 5,928 | omim | https://www.omim.org/entry/115196 | 2019-09-22T16:43:42 | {"mesh": ["C566170"], "omim": ["115196"], "genereviews": ["NBK1768"]} |
For a phenotypic description and a discussion of genetic heterogeneity of infantile hypertrophic pyloric stenosis (IHPS), see 179010.
Mapping
By genomewide linkage analysis of a large pedigree in which 7 individuals had infantile hypertrophic pyloric stenosis, Everett et al. (2008) identified a candidate locus on c... | PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 5 | c2675862 | 5,929 | omim | https://www.omim.org/entry/612525 | 2019-09-22T16:01:18 | {"mesh": ["C567283"], "omim": ["612525"]} |
A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.
## Epidemiology
Incidence of Perinatal lethal hypophosphatasia (PL-HPP) is no... | Perinatal lethal hypophosphatasia | c2673477 | 5,930 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=247623 | 2021-01-23T17:15:42 | {"mesh": ["C567107"], "omim": ["241500"], "umls": ["C2673477"], "icd-10": ["E83.3"], "synonyms": ["Perinatal lethal Rathbun disease", "Perinatal lethal phosphoethanolaminuria"]} |
A number sign (#) is used with this entry because it represents a contiguous gene syndrome caused by duplication at chromosome 2q31.1 (chr2:176.7-177.7 Mb, NCBI36).
Clinical Features
Cho et al. (2010) described a 3-generation Korean family segregating autosomal dominant mesomelic dysplasia and a 2q31.1 duplication ... | CHROMOSOME 2q31.1 DUPLICATION SYNDROME | c1835009 | 5,931 | omim | https://www.omim.org/entry/613681 | 2019-09-22T15:57:59 | {"doid": ["0060458"], "mesh": ["C535547"], "omim": ["613681"], "orphanet": ["1836"], "synonyms": ["Alternative titles", "MESOMELIC DYSPLASIA, 2q31.1 DUPLICATION-RELATED"]} |
Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expres... | Distal myopathy, Tateyama type | c3280443 | 5,932 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=488650 | 2021-01-23T18:09:12 | {"omim": ["614321"]} |
A number sign (#) is used with this entry because of evidence that immunodeficiency-60 (IMD60) is caused by heterozygous mutation in the BACH2 gene (605394) on chromosome 6q15.
Description
Immunodeficiency-60 (IMD60) is an autosomal dominant primary immunologic disorder characterized by inflammatory bowel disease a... | IMMUNODEFICIENCY 60 | None | 5,933 | omim | https://www.omim.org/entry/618394 | 2019-09-22T15:42:10 | {"omim": ["618394"], "synonyms": ["Alternative titles", "IMMUNODEFICIENCY AND AUTOIMMUNITY, BACH2-RELATED"]} |
## Description
Tibial torsion (twisting of the tibia) can cause toeing in or out, depending on whether it is internal or external torsion. Although some degree of internal tibial torsion is present in almost all infants because of the intrauterine position, it usually corrects spontaneously. Persistence of internal... | TIBIAL TORSION, BILATERAL MEDIAL | c1861097 | 5,934 | omim | https://www.omim.org/entry/188800 | 2019-09-22T16:32:31 | {"mesh": ["C566045"], "omim": ["188800"]} |
Subtype of a delusional disorder
This article is about a delusional disorder. For an abnormally strong or persistent sexual desire, see hypersexuality.
Erotomania
M.S.P. "Female patient suffering from erotomania," from Alexander Morison's The Physiognomy of Mental Diseases
SpecialtyPsychiatry
Erotomania is... | Erotomania | c0022492 | 5,935 | wikipedia | https://en.wikipedia.org/wiki/Erotomania | 2021-01-18T18:40:53 | {"mesh": ["D019965"], "wikidata": ["Q252185"]} |
Methylmalonic acidemia
Other namesMMA
Methylmalonic acid
SpecialtyEndocrinology
Methylmalonic acidemia, also called methylmalonic aciduria,[help 1] is an autosomal recessive[1] metabolic disorder that disrupts normal amino acid metabolism.[2] It is a classical type of organic acidemia.[3] The result of thi... | Methylmalonic acidemia | c0268583 | 5,936 | wikipedia | https://en.wikipedia.org/wiki/Methylmalonic_acidemia | 2021-01-18T18:49:36 | {"gard": ["7033"], "mesh": ["C537358"], "umls": ["C0268583"], "icd-9": ["270.3"], "icd-10": ["E71.1"], "wikidata": ["Q742500"]} |
Closeup of the female navel
Navel fetishism, belly button fetishism, or alvinophilia[1][2][3][4] is a partialism in which an individual is attracted to the human navel.[5][6][7][8][9][10][11]
According to a study, it is a moderately prevalent fetish among individuals.[12] In 2012, it was the second most popular... | Navel fetishism | None | 5,937 | wikipedia | https://en.wikipedia.org/wiki/Navel_fetishism | 2021-01-18T18:40:35 | {"wikidata": ["Q6982257"]} |
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 2017)
Tracheoinnominate Fistula
Other namesTracheal-innominate artery fistula
Depicts the anatomical relationships in the formation of a... | Tracheoinnominate fistula | None | 5,938 | wikipedia | https://en.wikipedia.org/wiki/Tracheoinnominate_fistula | 2021-01-18T18:39:54 | {"wikidata": ["Q28449227"]} |
## Summary
### Clinical characteristics.
Leber hereditary optic neuropathy (LHON) is characterized by bilateral, painless, subacute visual failure that develops during young adult life. Males are four to five times more likely than females to be affected. Affected individuals are usually entirely asymptomatic u... | Leber Hereditary Optic Neuropathy | c0917796 | 5,939 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1174/ | 2021-01-18T21:15:19 | {"mesh": ["D029242"], "synonyms": ["LHON", "Leber's Disease", "Leber's Optic Atrophy", "Leber's Optic Neuropathy"]} |
A rare neurologic disease characterized by unpredictable, transient and spontaneous unresponsiveness lasting from hours to days, with a frequency of three to seven attacks per year, in the absence of readily discernible toxic, metabolic or structural causes.
*[v]: View this template
*[t]: Discuss this template
... | Idiopathic recurrent stupor | c4706562 | 5,940 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=276174 | 2021-01-23T18:15:44 | {} |
Condition where a certain body part grows larger than normal size
Local gigantism affecting second toe of a child
Local gigantism or localised gigantism is a condition in which a certain part of the body acquires larger than normal size due to excessive growth of the anatomical structures or abnormal accumulation o... | Local gigantism | None | 5,941 | wikipedia | https://en.wikipedia.org/wiki/Local_gigantism | 2021-01-18T18:44:19 | {"orphanet": ["294953"], "synonyms": [], "wikidata": ["Q6664372"]} |
For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease, including Crohn disease (CD) and ulcerative colitis (UC), see IBD1 (266600).
Mapping
In a genomewide association study involving DNA samples from 988 patients with ileal Crohn disease and 1,007 controls, Rioux et al. ... | INFLAMMATORY BOWEL DISEASE 15 | c2677094 | 5,942 | omim | https://www.omim.org/entry/612255 | 2019-09-22T16:02:02 | {"mesh": ["C567381"], "omim": ["612255"]} |
## Description
The designation 'antiphospholipid syndrome' was proposed for the association of arterial and venous thrombosis, recurrent fetal loss, and immune thrombocytopenia with a spectrum of autoantibodies directed against cellular phospholipid components. Anticardiolipin antibodies may react with cardiolipin ... | ANTIPHOSPHOLIPID SYNDROME, FAMILIAL | c2930802 | 5,943 | omim | https://www.omim.org/entry/107320 | 2019-09-22T16:44:57 | {"mesh": ["C531622"], "omim": ["107320"], "synonyms": ["Alternative titles", "LUPUS ANTICOAGULANT, FAMILIAL"]} |
Granulomatous lobular mastitis is a rare inflammatory disease of the breast. This disease usually affects women of child-bearing age or those who use oral contraceptive medication. It can be confused with breast cancer, so it is often misdiagnosed and proper treatment is delayed. The main symptoms include a palpable ... | Granulomatous lobular mastitis | c0405469 | 5,944 | gard | https://rarediseases.info.nih.gov/diseases/13119/granulomatous-lobular-mastitis | 2021-01-18T18:00:12 | {"mesh": ["D058890"], "orphanet": ["64722"], "synonyms": ["Idiopathic granulomatous lobular mastitis"]} |
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Find sources: "Stigmatic-eligibilic paraphilia" – news · newspapers · books · scholar · JSTOR (December 2006) (Learn how and when to remove this templat... | Stigmatic-eligibilic paraphilia | None | 5,945 | wikipedia | https://en.wikipedia.org/wiki/Stigmatic-eligibilic_paraphilia | 2021-01-18T18:33:55 | {"wikidata": ["Q7616497"]} |
A number sign (#) is used with this entry because distal hereditary motor neuronopathy type VA (dHMN5A or HMN5A), sometimes referred to as distal spinal muscular atrophy type V (DSMAVA), can be caused by heterozygous mutation in the GARS gene (600287) on chromosome 7p14 or by heterozygous mutation in the BSCL2 ge... | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA | c1833308 | 5,946 | omim | https://www.omim.org/entry/600794 | 2019-09-22T16:15:48 | {"doid": ["0111204"], "mesh": ["C563443"], "omim": ["600794"], "orphanet": ["139536"], "synonyms": ["Alternative titles", "HMN VA", "NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V", "NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VA", "DHMN VA", "SPINAL MUSCULAR ATROPHY, DISTAL, TYPE VA", "SPINAL MUSCULAR ATROPHY, DISTAL, TY... |
A number sign (#) is used with this entry because of evidence that torsion dystonia-1 (DYT1) is caused by heterozygous mutation in the TOR1A gene (605204), encoding the ATP-binding protein torsin-A, on chromosome 9q34.
Description
'Dystonia' describes a neurologic condition characterized by involuntary, sustained m... | DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT | c1851945 | 5,947 | omim | https://www.omim.org/entry/128100 | 2019-09-22T16:42:03 | {"doid": ["0060730"], "omim": ["128100"], "orphanet": ["256"], "synonyms": ["Alternative titles", "DYSTONIA MUSCULORUM DEFORMANS 1", "EARLY-ONSET TORSION DYSTONIA"], "genereviews": ["NBK1492"]} |
"NBTE" redirects here. For educational board, see National Board for Technical Education.
Nonbacterial thrombotic endocarditis
SpecialtyCardiology
Nonbacterial thrombotic endocarditis (NBTE) is a form of endocarditis in which small sterile vegetations are deposited on the valve leaflets. Formerly known as mar... | Nonbacterial thrombotic endocarditis | c3202971 | 5,948 | wikipedia | https://en.wikipedia.org/wiki/Nonbacterial_thrombotic_endocarditis | 2021-01-18T18:39:07 | {"mesh": ["D059905"], "icd-9": ["424.90"], "icd-10": ["I38"], "wikidata": ["Q73518"]} |
Felid alphaherpesvirus 1
Virus classification
(unranked): Virus
Realm: Duplodnaviria
Kingdom: Heunggongvirae
Phylum: Peploviricota
Class: Herviviricetes
Order: Herpesvirales
Family: Herpesviridae
Genus: Varicellovirus
Species:
Felid alphaherpesvirus 1
Synonyms
* Felid herp... | Feline viral rhinotracheitis | c0276243 | 5,949 | wikipedia | https://en.wikipedia.org/wiki/Feline_viral_rhinotracheitis | 2021-01-18T18:52:21 | {"wikidata": ["Q15660578"]} |
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. (December 2012)
Entomopia (from the Greek roots for "insect" and "eye"), is a form of polyopia in which a grid-like pattern of multiple copies of the ... | Entomopia | None | 5,950 | wikipedia | https://en.wikipedia.org/wiki/Entomopia | 2021-01-18T18:35:50 | {"wikidata": ["Q5380627"]} |
Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability . Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity; and/or skin, hair and mild ... | Severe intellectual disability-progressive spastic diplegia syndrome | c3554449 | 5,951 | gard | https://rarediseases.info.nih.gov/diseases/3505/severe-intellectual-disability-progressive-spastic-diplegia-syndrome | 2021-01-18T17:57:44 | {"omim": ["615075"], "orphanet": ["404473"], "synonyms": ["Intellectual disability, autosomal dominant 19", "CTNNB1 syndrome", "CTNNB1-related intellectual disability"]} |
Osteochondromatosis
SpecialtyMedical genetics
Osteochondromatosis is a condition involving a proliferation of osteochondromas.[1]
Types include:
* Hereditary multiple exostoses
* Synovial osteochondromatosis
## References[edit]
1. ^ "osteochondromatosis" at Dorland's Medical Dictionary
## External l... | Osteochondromatosis | c0206641 | 5,952 | wikipedia | https://en.wikipedia.org/wiki/Osteochondromatosis | 2021-01-18T18:56:03 | {"mesh": ["D018216"], "icd-9": ["238.0"], "icd-10": ["Q78.6"], "wikidata": ["Q7107610"]} |
A cystic teratoma with a small Rokitansky nodule — region of thickened cyst wall (bottom part of image).
In gynecology, a Rokitansky nodule is a mass or lump in an ovarian teratomatous cyst.[1]
## See also[edit]
* Baron Carl von Rokitansky
* Rokitansky-Aschoff sinuses
## References[edit]
1. ^ Outwater ... | Rokitansky nodule | None | 5,953 | wikipedia | https://en.wikipedia.org/wiki/Rokitansky_nodule | 2021-01-18T18:36:26 | {"wikidata": ["Q7360009"]} |
Human and animal disease
This article includes a list of general references, but it remains largely unverified because it lacks sufficient corresponding inline citations. Please help to improve this article by introducing more precise citations. (September 2020) (Learn how and when to remove this template message) ... | Brucellosis | c0006309 | 5,954 | wikipedia | https://en.wikipedia.org/wiki/Brucellosis | 2021-01-18T18:42:22 | {"gard": ["5966"], "mesh": ["D002006"], "umls": ["C0006309"], "orphanet": ["1304"], "wikidata": ["Q156050"]} |
A number sign (#) is used with this entry because glycogen storage disease IXd (GDS9D), also known as X-linked muscle phosphorylase kinase deficiency, is caused by mutation in the PHKA1 gene (311870), which encodes the alpha subunit of muscle phosphorylase kinase, on chromosome Xq13.
See also hepatic PHK deficie... | GLYCOGEN STORAGE DISEASE, TYPE IXd | c1845151 | 5,955 | omim | https://www.omim.org/entry/300559 | 2019-09-22T16:20:06 | {"doid": ["0111040"], "mesh": ["C564485"], "omim": ["300559"], "orphanet": ["715"], "synonyms": ["Alternative titles", "GSD IXd", "MUSCLE PHOSPHORYLASE KINASE DEFICIENCY", "MUSCLE GLYCOGENOSIS, X-LINKED"], "genereviews": ["NBK55061"]} |
Mercury poisoning is a condition that occurs in people who are exposed to toxic levels of the element, mercury. There are three different forms of mercury that can cause health problems:
* Elemental mercury (also known as liquid mercury or quicksilver) can be found in glass thermometers, electrical switches, den... | Mercury poisoning | c0025427 | 5,956 | gard | https://rarediseases.info.nih.gov/diseases/7021/mercury-poisoning | 2021-01-18T17:59:08 | {"mesh": ["D008630"], "umls": ["C0025427"], "synonyms": ["Mercury toxicity"]} |
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: "Amyotrophy" – news · newspapers · books · scholar · JSTOR (October 2020) (Learn how and when to remove this template me... | Amyotrophy | c0026846 | 5,957 | wikipedia | https://en.wikipedia.org/wiki/Amyotrophy | 2021-01-18T18:53:00 | {"mesh": ["D009133"], "umls": ["C0026846"], "icd-9": ["728.2"], "icd-10": ["G71.8"], "wikidata": ["Q2844600"]} |
BRCA1 hereditary breast and ovarian cancer syndrome (BRCA1 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers. Women with this condition have a 57-60% risk of developing breast cancer, a 40-59% risk of developing ovarian cancer and an 83% risk of developi... | BRCA1 hereditary breast and ovarian cancer syndrome | c0677776 | 5,958 | gard | https://rarediseases.info.nih.gov/diseases/12351/brca1-hereditary-breast-and-ovarian-cancer-syndrome | 2021-01-18T18:01:43 | {"mesh": ["D061325"], "orphanet": ["145"], "synonyms": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1, INCLUDED", "OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1, INCLUDED", "Familial susceptibility to breast-ovarian cancer 1", "BROVCA1"]} |
## Clinical Features
Gershoni-Baruch et al. (1990) reported a male infant with a giant omphalocele containing liver and intestines, diaphragmatic hernia, hepatic cyst, bilateral radioulnar synostosis, absent left thumb, and triphalangeal right thumb. Radiographically, there was absence of the right metacarpal and p... | OMPHALOCELE, DIAPHRAGMATIC HERNIA, AND RADIAL RAY DEFECTS | c1836007 | 5,959 | omim | https://www.omim.org/entry/609545 | 2019-09-22T16:05:52 | {"mesh": ["C563701"], "omim": ["609545"], "orphanet": ["496693"], "synonyms": ["Alternative titles", "GERSHONI-BARUCH SYNDROME", "Gershoni-Baruch syndrome"]} |
Subcutaneous emphysema
Other namesSurgical emphysema, tissue emphysema, sub Q air
An abdominal CT scan of a patient with subcutaneous emphysema (arrows)
SpecialtyEmergency medicine
Subcutaneous emphysema (SCE, SE) occurs when gas or air travels under the skin. Subcutaneous refers to the tissue beneath the ... | Subcutaneous emphysema | c0038536 | 5,960 | wikipedia | https://en.wikipedia.org/wiki/Subcutaneous_emphysema | 2021-01-18T19:09:28 | {"mesh": ["D013352"], "icd-9": ["958.7", "998.81"], "icd-10": ["T79.7", "T81.8"], "wikidata": ["Q1412866"]} |
Prion disease affecting the deer family
Chronic wasting disease
Other namesZombie deer disease
Deer with signs of chronic wasting disease
SpecialtyVeterinary medicine
Chronic wasting disease (CWD), sometimes called zombie deer disease, is a transmissible spongiform encephalopathy (TSE) affecting deer.... | Chronic wasting disease | c1135993 | 5,961 | wikipedia | https://en.wikipedia.org/wiki/Chronic_wasting_disease | 2021-01-18T18:39:14 | {"mesh": ["D034081"], "umls": ["C1135993"], "wikidata": ["Q1087811"]} |
A rare subtype of autosomal dominant cerebellar ataxia type I characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation.
## Epidemiology
Worldwide prevalence is unknown. However, the disease is found most commonly in Japan where the prevalence is es... | Dentatorubral pallidoluysian atrophy | c0751781 | 5,962 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=101 | 2021-01-23T18:47:52 | {"gard": ["5643"], "mesh": ["D020191"], "omim": ["125370"], "umls": ["C0751781"], "icd-10": ["G11.8"], "synonyms": ["DRPLA", "Dentatorubropallidoluysian atrophy", "Naito-Oyanagi disease"]} |
Velamentous cord insertion
Normal umbilical cord insertion and velamentous umbilical cord insertion in pregnancy, with and without vasa previa.
SpecialtyObstetrics
SymptomsBlood vessel compression,[1][2] decrease in blood supply to the fetus,[2][3] impaired growth and development of the fetus.[4][5]
Risk fact... | Velamentous cord insertion | c0266789 | 5,963 | wikipedia | https://en.wikipedia.org/wiki/Velamentous_cord_insertion | 2021-01-18T18:29:46 | {"icd-9": ["762.6"], "icd-10": ["O43.1"], "wikidata": ["Q490081"]} |
For the hair pattern, see Chignon (hairstyle).
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: "Chignon" medical term – news · newspapers · books · scholar · JSTOR... | Chignon (medical term) | None | 5,964 | wikipedia | https://en.wikipedia.org/wiki/Chignon_(medical_term) | 2021-01-18T18:54:45 | {"icd-9": ["767.19"], "icd-10": ["P12.1"], "wikidata": ["Q5097223"]} |
Double aortic arch
Other namesDAA
Double aortic arch is a relatively rare congenital cardiovascular malformation. DAA is an anomaly of the aortic arch in which two aortic arches form a complete vascular ring that can compress the trachea and/or esophagus.[1][2] Most commonly there is a larger (dominant) ri... | Double aortic arch | c0265883 | 5,965 | wikipedia | https://en.wikipedia.org/wiki/Double_aortic_arch | 2021-01-18T18:59:07 | {"mesh": ["D000073872"], "umls": ["C0265883"], "wikidata": ["Q5299967"]} |
Dental panoramic radiograph showing Stafne defect in the right mandible, below the inferior alveolar nerve canal (arrowed, appears on lower left of image). This x-ray was taken for an unrelated assessment of wisdom teeth, and the Stafne defect was a chance finding.
Axial computed tomograph of the same person. Th... | Stafne defect | None | 5,966 | wikipedia | https://en.wikipedia.org/wiki/Stafne_defect | 2021-01-18T18:36:47 | {"icd-10": ["M27.0"], "wikidata": ["Q7596727"]} |
Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing... | Interstitial lung disease due to ABCA3 deficiency | c1970456 | 5,967 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=440402 | 2021-01-23T17:34:04 | {"mesh": ["C567046"], "omim": ["610921"], "icd-10": ["J84.8"], "synonyms": ["Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency"]} |
Hypereosinophilic syndrome (HES) refers to a rare group of conditions that are associated with persistent eosinophilia with evidence of organ involvement. Signs and symptoms vary significantly based on which parts of the body are affected. Although any organ system can be involved in HES, the heart, central nervous s... | Hypereosinophilic syndrome | c1540912 | 5,968 | gard | https://rarediseases.info.nih.gov/diseases/2804/hypereosinophilic-syndrome | 2021-01-18T17:59:56 | {"mesh": ["D017681"], "omim": ["607685", "131400"], "orphanet": ["168956"], "synonyms": ["HES", "Hypereosinophilic syndrome, idiopathic"]} |
## Description
Restless legs syndrome (RLS) is a neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. The disorder results in nocturnal insomnia and chronic sleep deprivation (Bona... | RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 7 | c2748506 | 5,969 | omim | https://www.omim.org/entry/612853 | 2019-09-22T16:00:28 | {"omim": ["612853"]} |
Bardet-Biedl syndrome (BBS) is an inherited condition that affects many parts of the body. People with this syndrome have progressive visual impairment due to cone-rod dystrophy; extra fingers or toes (polydactyly); truncal obesity; decreased function of the male gonads (hypogonadism); kidney abnormalities; and learn... | Bardet-Biedl syndrome | c0752166 | 5,970 | gard | https://rarediseases.info.nih.gov/diseases/6866/bardet-biedl-syndrome | 2021-01-18T18:01:53 | {"mesh": ["D020788"], "orphanet": ["110"], "synonyms": ["BBS", "Biedl-Bardet Syndrome"]} |
Ectodermal dysplasia with corkscrew hairs
SpecialtyDermatology
Ectodermal dysplasia with corkscrew hairs is a skin condition with salient features including exaggerated pili torti, scalp keloids, follicular plugging, keratosis pilaris, xerosis, eczema, palmoplantar keratoderma, syndactyly, onychodysplasia and ... | Ectodermal dysplasia with corkscrew hairs | c2931239 | 5,971 | wikipedia | https://en.wikipedia.org/wiki/Ectodermal_dysplasia_with_corkscrew_hairs | 2021-01-18T18:37:53 | {"gard": ["5376"], "mesh": ["C536565"], "umls": ["C2931239"], "orphanet": ["3357"], "wikidata": ["Q5333997"]} |
Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome (see this term) is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure... | Infantile Bartter syndrome with sensorineural deafness | c2748440 | 5,972 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=89938 | 2021-01-23T19:07:40 | {"gard": ["10508"], "mesh": ["C567544"], "omim": ["602522", "613090"], "icd-10": ["E26.8"], "synonyms": ["Bartter syndrome type 4", "Bartter syndrome type IV", "Infantile Bartter syndrome with sensorineural hearing loss"]} |
A number sign (#) is used with this entry because of evidence that Greig cephalopolysyndactyly syndrome (GCPS) is caused by heterozygous mutation in the GLI3 gene (165240) on chromosome 7p14.
Mutations in the GLI3 gene can also cause Pallister-Hall syndrome (PHS; 146510) and 2 forms of isolated polydactyly: postaxia... | GREIG CEPHALOPOLYSYNDACTYLY SYNDROME | c0265306 | 5,973 | omim | https://www.omim.org/entry/175700 | 2019-09-22T16:35:58 | {"doid": ["14761"], "mesh": ["C537300"], "omim": ["175700"], "orphanet": ["380"], "synonyms": ["Alternative titles", "POLYSYNDACTYLY WITH PECULIAR SKULL SHAPE"], "genereviews": ["NBK1446"]} |
Myoclonic epilepsy with ragged-red fibers (MERRF) is a disorder that affects many parts of the body, particularly the muscles and nervous system. In most cases, the signs and symptoms of this disorder appear during childhood or adolescence. The features of MERRF vary widely among affected individuals, even among memb... | Myoclonic epilepsy with ragged-red fibers | c0162672 | 5,974 | medlineplus | https://medlineplus.gov/genetics/condition/myoclonic-epilepsy-with-ragged-red-fibers/ | 2021-01-27T08:24:43 | {"gard": ["7144"], "mesh": ["D017243"], "omim": ["545000"], "synonyms": []} |
Post-nasal drip
Other namesUpper airway cough syndrome, UACS, or Post nasal drip syndrome
Post-nasal drip
SpecialtyOtorhinolaryngology
Post-nasal drip (PND), also known as upper airway cough syndrome (UACS), occurs when excessive mucus is produced by the nasal mucosa. The excess mucus accumulates in the ba... | Post-nasal drip | c0032781 | 5,975 | wikipedia | https://en.wikipedia.org/wiki/Post-nasal_drip | 2021-01-18T18:43:10 | {"umls": ["C0032781"], "icd-9": ["784.91"], "icd-10": ["R09.82"], "wikidata": ["Q7233562"]} |
Diplophonia
V̬‼
Diplophonia, also known as diphthongia, is a phenomenon in which a voice is perceived as being produced with two concurrent pitches.[1] Diplophonia is a result of vocal fold vibrations that are quasi-periodic in nature.[2] It has been reported from old days, but there is no uniform interpre... | Diplophonia | c0234760 | 5,976 | wikipedia | https://en.wikipedia.org/wiki/Diplophonia | 2021-01-18T19:03:15 | {"wikidata": ["Q1227259"]} |
Free-living Amoebozoa infection
SpecialtyInfectious diseases
Free-living amoebae (or "FLA")[1] in the Amoebozoa group are important causes of disease in humans and animals.
Naegleria fowleri is sometimes included in the group "free-living amoebae",[2][3] and it causes a condition traditionally called prim... | Free-living Amoebozoa infection | None | 5,977 | wikipedia | https://en.wikipedia.org/wiki/Free-living_Amoebozoa_infection | 2021-01-18T18:34:45 | {"icd-9": ["136.2"], "wikidata": ["Q5499617"]} |
Not to be confused with Cryptococcosis.
Parasitic disease
Cryptosporidiosis
Micrograph showing cryptosporidiosis. The cryptosporidium are the small, round bodies in apical vacuoles on the surface of the epithelium. H&E stain. Colonic biopsy.
SpecialtyInfectious disease
SymptomsWatery diarrhea, nausea, abd... | Cryptosporidiosis | c0010418 | 5,978 | wikipedia | https://en.wikipedia.org/wiki/Cryptosporidiosis | 2021-01-18T19:09:36 | {"gard": ["6219"], "mesh": ["D003457"], "umls": ["C0010418"], "icd-10": ["A07.207.2"], "orphanet": ["1549"], "wikidata": ["Q1359898"]} |
Chromosome 20p duplication is a rare chromosome abnormality that occurs when there is an extra copy (duplication) of genetic material on the short arm (p) of chromosome 20. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. In ... | Chromosome 20p duplication | c2930888 | 5,979 | gard | https://rarediseases.info.nih.gov/diseases/5333/chromosome-20p-duplication | 2021-01-18T18:01:23 | {"mesh": ["C535371"], "umls": ["C2930888"], "synonyms": ["Duplication 20p", "Trisomy 20p", "20p duplication", "20p trisomy", "Partial trisomy 20p"]} |
Fechtner syndrome
Other namesAlport syndrome with leukocyte inclusions and macrothrombocytopenia
Fechtner syndrome is inherited in an autosomal dominant manner.
Fechtner syndrome is a variant of Alport syndrome characterized by leukocyte inclusions, macrothrombocytopenia,[1] thrombocytopenia, nephritis, and ... | Fechtner syndrome | c0403445 | 5,980 | wikipedia | https://en.wikipedia.org/wiki/Fechtner_syndrome | 2021-01-18T18:34:49 | {"orphanet": ["1984"], "wikidata": ["Q1399440"]} |
A rare hereditary optic atrophy characterized by an early onset of bilateral optic nerve degeneration without other systemic features. Clinical manifestations include pallor of the optic disks, severe but slowly progressing visual impairment, and in some patients also paracentral scotoma, photophobia and dyschrom... | Autosomal recessive isolated optic atrophy | c1850281 | 5,981 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98676 | 2021-01-23T17:00:20 | {"mesh": ["C537127"], "omim": ["258500", "616289", "616732", "617302"], "icd-10": ["H47.2"], "synonyms": ["Autosomal recessive non-syndromic optic atrophy"]} |
Transvestic fetishism
SpecialtyPsychiatry
SymptomsExcessive sexual or erotic interest in cross-dressing
Cross-dressing
History of cross-dressing
* In wartime
* History of drag
* Rebecca Riots
* Casa Susanna
* Pantomime dame
* Principal boy
* Travesti
Key elements
* Passing
* Tran... | Transvestic fetishism | None | 5,982 | wikipedia | https://en.wikipedia.org/wiki/Transvestic_fetishism | 2021-01-18T18:45:24 | {"icd-10": ["F65.1"], "wikidata": ["Q377402"]} |
Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.
## Epidemiology
Prevalence is unknow... | Perrault syndrome | c0685838 | 5,983 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2855 | 2021-01-23T17:13:23 | {"gard": ["2542"], "mesh": ["C537286"], "omim": ["233400", "614129", "614926", "615300", "616138", "617565"], "umls": ["C0685838"], "icd-10": ["Q87.8"], "synonyms": ["XX gonodal dysgenesis-deafness syndrome", "XX gonodal dysgenesis-hearing loss syndrome"]} |
A number sign (#) is used with this entry because of evidence that recurrent hydatidiform mole-1 (HYDM1) is caused by homozygous or compound heterozygous mutation in the NLRP7 gene (609661) on chromosome 19q13.
Description
A hydatidiform mole is an abnormal pregnancy characterized by hydropic placental villi, troph... | HYDATIDIFORM MOLE, RECURRENT, 1 | c0020217 | 5,984 | omim | https://www.omim.org/entry/231090 | 2019-09-22T16:27:36 | {"doid": ["3590"], "mesh": ["D006828"], "omim": ["231090"], "icd-10": ["O01.9", "O01.0"], "orphanet": ["99927", "254688"], "synonyms": ["Alternative titles", "HYDATIDIFORM MOLE", "HYDATIDIFORM MOLE, COMPLETE", "GESTATIONAL TROPHOBLASTIC DISEASE"]} |
Diabetic foot
Other namesDiabetic foot syndrome
Neuropathic diabetic foot ulcer
SpecialtyInfectious disease, endocrinology, surgery
A diabetic foot is any pathology that results directly from peripheral arterial disease (PAD) and/or sensory neuropathy affecting the feet in diabetes mellitus; it is a long-t... | Diabetic foot | c0206172 | 5,985 | wikipedia | https://en.wikipedia.org/wiki/Diabetic_foot | 2021-01-18T19:03:27 | {"mesh": ["D017719"], "umls": ["C0206172"], "wikidata": ["Q52856"]} |
Cardiac tamponade
Other namesPericardial tamponade
A very large pericardial effusion resulting in tamponade as a result of bleeding from cancer as seen on ultrasound. Closed arrow - the heart; open arrow - the effusion
SpecialtyCardiac surgery
SymptomsShortness of breath, weakness, lightheadedness, cough[... | Cardiac tamponade | c0007177 | 5,986 | wikipedia | https://en.wikipedia.org/wiki/Cardiac_tamponade | 2021-01-18T19:03:43 | {"mesh": ["D002305"], "umls": ["C0007177"], "wikidata": ["Q929313"]} |
A number sign (#) is used with this entry because Diamond-Blackfan anemia-6 (DBA6) is caused by heterozygous mutation in the gene encoding ribosomal protein L5 (RPL5; 603634) on chromosome 1p22.
Description
Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first y... | DIAMOND-BLACKFAN ANEMIA 6 | c1260899 | 5,987 | omim | https://www.omim.org/entry/612561 | 2019-09-22T16:01:12 | {"doid": ["1339"], "mesh": ["D029503"], "omim": ["612561"], "orphanet": ["124"], "synonyms": ["Alternative titles", "AASE-SMITH SYNDROME II"], "genereviews": ["NBK7047"]} |
A rare congenital skin disease defined as an abnormality of the structure of the scalp hair and characterized by extreme kinkiness of the hair.
## Epidemiology
Prevalence of woolly hair is unknown.
## Clinical description
Woolly hair can either be present at birth or appear in the first months of life. The curls,... | Woolly hair | c0345427 | 5,988 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=170 | 2021-01-23T18:39:21 | {"gard": ["5597"], "mesh": ["C536745"], "omim": ["194300", "278150", "604379", "615896", "616760"], "umls": ["C0343073", "C0345427"], "icd-10": ["Q84.1"], "synonyms": ["Familial woolly hair syndrome", "Familial wooly hair syndrome", "Hereditary woolly hair syndrome", "Hereditary wooly hair syndrome", "Wooly hair"]} |
A rare multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations.
## Epidemiology
The birth prevalence of Fryns syndrome (FS) has been estimated a... | Fryns syndrome | c0220730 | 5,989 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2059 | 2021-01-23T18:41:18 | {"gard": ["3699"], "mesh": ["C538070"], "omim": ["229850"], "umls": ["C0220730"], "icd-10": ["Q87.8"], "synonyms": ["Diaphragmatic hernia-abnormal face-distal limb anomalies syndrome"]} |
A number sign (#) is used with this entry because of evidence that transient infantile hypertriglyceridemia (HTGTI) is caused by homozygous or compound heterozygous mutation in the GPD1 gene (138420) on chromosome 12q13.
Description
Transient infantile hypertriglyceridemia is an autosomal recessive disorder charact... | HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE | c3280953 | 5,990 | omim | https://www.omim.org/entry/614480 | 2019-09-22T15:55:08 | {"omim": ["614480"], "orphanet": ["300293"], "synonyms": ["Transient infantile hypertriglyceridemia and fatty liver"]} |
A rare genetic syndrome with a central nervous system malformation as a major feature, characterized by a triad of high alpha-fetoprotein levels in both maternal serum and amniotic fluid, cerebral ventriculomegaly, and renal macro- and microcysts. Variable findings include congenital nephrotic syndrome, aqueductal st... | Ventriculomegaly-cystic kidney disease | c1857423 | 5,991 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=443988 | 2021-01-23T17:02:32 | {"mesh": ["C565657"], "omim": ["219730"], "umls": ["C1857423"], "synonyms": ["Congenital nephrosis-cerebral ventriculomegaly syndrome", "VMCKD"]} |
## Clinical Features
Van Royen-Kerkhof et al. (1998) reported a nonconsanguineous family of Indonesian and white Dutch ancestry in which 2 brothers had a Joubert (see 213300)-like syndrome, and 1 of the brothers and a sister also had type I Gaucher disease (230800). Joubert syndrome was initially diagnosed in the p... | CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED | c3275487 | 5,992 | omim | https://www.omim.org/entry/300864 | 2019-09-22T16:19:20 | {"omim": ["300864"], "orphanet": ["163961"], "synonyms": ["X-linked intellectual disability, Kroes type"]} |
Pyruvate carboxylase deficiency
Other namesLeigh necrotizing encephalopathy due to pyruvate carboxylase deficiency[1]
SpecialtyEndocrinology
Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid to accumulate in the blood.[2] High levels of these substances can damage the body's or... | Pyruvate carboxylase deficiency | c2931141 | 5,993 | wikipedia | https://en.wikipedia.org/wiki/Pyruvate_carboxylase_deficiency | 2021-01-18T18:35:52 | {"gard": ["7512"], "mesh": ["C536255", "D015324"], "umls": ["C2931141"], "icd-9": ["271.8"], "orphanet": ["3008"], "wikidata": ["Q7263794"]} |
Nematode dermatitis
SpecialtyDermatology
Nematode dermatitis is a cutaneous condition characterized by widespread folliculitis caused by Ancylostoma caninum.[1]:435
## See also[edit]
* Skin lesion
## References[edit]
1. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of th... | Nematode dermatitis | None | 5,994 | wikipedia | https://en.wikipedia.org/wiki/Nematode_dermatitis | 2021-01-18T18:57:09 | {"wikidata": ["Q6991009"]} |
A partial deletion of the long arm of chromosome 4 characterized by complex behavioral difficulties, developmental and delay/ intellectual disability, and minor dysmorphic features, including subtle facial asymmetry (most prominent in the mandible), mild hypotelorism, long nasal bridge, small low-set ears, narrow... | 4q25 proximal deletion syndrome | None | 5,995 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=502437 | 2021-01-23T19:07:56 | {"synonyms": ["Proximal del(4)(q25)", "Proximal monosomy 4q25"]} |
Primary angiitis of the central nervous system is a rare form of vasculitis (inflammation of blood vessels) affecting the blood vessels that nourish the brain, spinal cord and peripheral nerves. This condition can lead to narrowing and blockage of the blood vessels of the central nervous system which can eventually c... | Primary angiitis of the central nervous system | c2930862 | 5,996 | gard | https://rarediseases.info.nih.gov/diseases/8703/primary-angiitis-of-the-central-nervous-system | 2021-01-18T17:58:12 | {"mesh": ["C535276"], "orphanet": ["140989"], "synonyms": ["PACNS", "Primary central nervous system vasculitis", "Primary CNS vasculitis", "Granulomatous angiitis of the central nervous system"]} |
For the 1970s rock band Piblokto!, see Pete Brown.
Piblokto, also known as pibloktoq and Arctic hysteria, is a condition most commonly appearing in Inughuit (Greenlandic Inuit) societies living within the Arctic Circle. Piblokto is a culture-specific hysterical reaction in Inuit, especially women, who may perform ir... | Piblokto | c0270604 | 5,997 | wikipedia | https://en.wikipedia.org/wiki/Piblokto | 2021-01-18T18:56:34 | {"icd-10": ["F44.88", "F44.7"], "wikidata": ["Q1779438"]} |
## Description
Congenital laryngeal (glottic) webs are uncommon, membrane-like structures that extend across the laryngeal lumen near the level of the vocal cords. They are thought to result from incomplete resorption of an epithelial layer that normally obliterates the developing laryngeal opening at about the six... | LARYNGEAL WEB, FAMILIAL | c1835494 | 5,998 | omim | https://www.omim.org/entry/150360 | 2019-09-22T16:39:04 | {"mesh": ["C563636"], "omim": ["150360"], "orphanet": ["2374"], "synonyms": ["Alternative titles", "GLOTTIC WEB, CONGENITAL ANTERIOR", "SUBGLOTTIC WEB", "SUBGLOTTIC BAR"]} |
A number sign (#) is used with this entry because of evidence that cataract-48 (CTRCT48) is caused by homozygous mutation in the DNMBP gene (611282) on chromosome 10q24.
Description
Cataract-48 (CTRCT48) is characterized by infantile or early-childhood cataracts and visual impairment (Ansar et al., 2018).
Clinical... | CATARACT 48 | None | 5,999 | omim | https://www.omim.org/entry/618415 | 2019-09-22T15:42:02 | {"omim": ["618415"]} |
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