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A rare syndromic renal disorder characterized by renal, neurologic and thyroid disease, associated with thrombocytopenia. There have been no further descriptions in the literature since 1978.
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*[c.]: circa
*[AA]: Adrenergic ag... | Thyrocerebrorenal syndrome | c1848813 | 5,700 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3327 | 2021-01-23T17:34:43 | {"gard": ["1646"], "mesh": ["C536908"], "omim": ["274240"], "umls": ["C1848813"], "synonyms": ["Cutler-Bass-Romshe syndrome"]} |
Hepatocyte nuclear factor 1 Beta-associated diseases (HNF1B-associated diseases) are a group of genetic conditions that affect the kidney as well as other organ systems. The most common symptoms are associated with kidney abnormalities. Other signs and symptoms may include diabetes at a young age, genital abnormaliti... | Hepatocyte nuclear factor 1ß (HNF1ß)–associated disease | None | 5,701 | gard | https://rarediseases.info.nih.gov/diseases/13702/hepatocyte-nuclear-factor-1-hnf1-associated-disease | 2021-01-18T18:00:05 | {"synonyms": ["Hepatocyte nuclear factor 1 beta–associated disease", "Renal cysts and diabetes"]} |
A number sign (#) is used with this entry because of evidence that Leber congenital amaurosis-10 (LCA10) is caused by homozygous or compound heterozygous mutations in the CEP290 gene (610142) on chromosome 12q21.
Description
Leber congenital amaurosis is a severe retinal dystrophy, causing blindness or severe visua... | LEBER CONGENITAL AMAUROSIS 10 | c0339527 | 5,702 | omim | https://www.omim.org/entry/611755 | 2019-09-22T16:02:52 | {"doid": ["0110291"], "mesh": ["D057130"], "omim": ["611755"], "orphanet": ["65"], "genereviews": ["NBK531510"]} |
A number sign (#) is used with this entry because of evidence that hypomagnesemia, seizures, and mental retardation-1 (HOMGSMR1) is caused by heterozygous mutation in the CNNM2 gene (607803) on chromosome 10q24. One family with a homozygous mutation has also been reported.
Description
HOMGSMR1 is characterized by o... | HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1 | c4225333 | 5,703 | omim | https://www.omim.org/entry/616418 | 2019-09-22T15:48:56 | {"omim": ["616418"], "orphanet": ["34527"], "synonyms": ["HOMGSMR", "Alternative titles"]} |
Isolated sulfite oxidase deficiency (ISOD) is a disorder of the nervous system, with a severe "classic" form that starts in the newborn period and a milder, late-onset form that begins later in infancy or early childhood.
Classic ISOD appears within the first few days after birth with signs and symptoms of brain dys... | Isolated sulfite oxidase deficiency | c2931746 | 5,704 | medlineplus | https://medlineplus.gov/genetics/condition/isolated-sulfite-oxidase-deficiency/ | 2021-01-27T08:25:52 | {"gard": ["5062"], "mesh": ["C538141"], "omim": ["272300"], "synonyms": []} |
Gigli et al. (1993) described a family in which 3 brothers and 2 sons of 1 of the brothers had progressive weakness and spasticity of lower limbs, epilepsy, and mental retardation.
By linkage analysis and haplotype reconstruction, Lo Nigro et al. (2003) excluded linkage of the disorder in the family described by Gig... | SPASTIC PARAPLEGIA, EPILEPSY, AND MENTAL RETARDATION | c1866854 | 5,705 | omim | https://www.omim.org/entry/182610 | 2019-09-22T16:34:40 | {"mesh": ["C536869"], "omim": ["182610"], "orphanet": ["2816"]} |
Action myoclonus–renal failure (AMRF) syndrome causes episodes of involuntary muscle jerking or twitching (myoclonus) and, often, kidney (renal) disease. Although the condition name refers to kidney disease, not everyone with the condition has problems with kidney function.
The movement problems associated with AMRF... | Action myoclonus–renal failure syndrome | c0751779 | 5,706 | medlineplus | https://medlineplus.gov/genetics/condition/action-myoclonus-renal-failure-syndrome/ | 2021-01-27T08:25:46 | {"mesh": ["D020191"], "omim": ["254900"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that autosomal recessive spinocerebellar ataxia-24 (SCAR24) is caused by compound heterozygous mutation in the UBA5 gene (610552) on chromosome 3q22. One such family has been reported.
Clinical Features
Duan et al. (2016) reported 2 adult sibs, born of u... | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24 | c4310699 | 5,707 | omim | https://www.omim.org/entry/617133 | 2019-09-22T15:46:51 | {"omim": ["617133"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive spinocerebellar ataxia-18 (SCAR18) is caused by homozygous mutation in the GRID2 gene (602368) on chromosome 4q22.
Description
Autosomal recessive spinocerebellar ataxia-18 is a neurologic disorder characterized by delayed psycho... | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 | c4015505 | 5,708 | omim | https://www.omim.org/entry/616204 | 2019-09-22T15:49:40 | {"doid": ["0080042"], "omim": ["616204"], "orphanet": ["363429", "363432"], "synonyms": ["SCAR18", "Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency"]} |
A rare disorder characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.
## Epidemiology
This disease has been detected in at least 70 patients in more than 50 ... | Glutathione synthetase deficiency | c0398746 | 5,709 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=32 | 2021-01-23T18:31:46 | {"gard": ["10047"], "mesh": ["C536835"], "omim": ["231900", "266130"], "umls": ["C0398746", "C1291643"], "icd-10": ["D55.1"], "synonyms": ["Pyroglutamicaciduria"]} |
A number sign (#) is used with this entry because of evidence that variation in the CNTNAP2 gene (604569) on chromosome 7q35-q36 influences susceptibility to autism.
For another form of susceptibility to autism in the 7q35-q36 region, see AUTS10 (611016).
Description
Autism, the prototypic pervasive developmental ... | AUTISM, SUSCEPTIBILITY TO, 15 | c2677504 | 5,710 | omim | https://www.omim.org/entry/612100 | 2019-09-22T16:02:20 | {"omim": ["612100"]} |
Ciuffo et al. (1985) reported a family in which the 62-year-old mother and her 36-year-old son and 28-year-old daughter had a seemingly 'new' syndrome of pulmonary valve stenosis, secundum type of atrial septal defect, and unique EKG changes: superior axis (-88 degrees in the mother) and absence of anterior forces in... | PULMONIC STENOSIS, ATRIAL SEPTAL DEFECT, AND UNIQUE ELECTROCARDIOGRAPHIC ABNORMALITIES | c1867407 | 5,711 | omim | https://www.omim.org/entry/178650 | 2019-09-22T16:35:23 | {"mesh": ["C566733"], "omim": ["178650"], "synonyms": ["Alternative titles", "CIUFFO SYNDROME"]} |
Papillon-Lefevre syndrome
Other namesPalmoplantar keratoderma with periodontitis
Papillon–Lefèvre syndrome has an autosomal recessive pattern of inheritance.
SpecialtyDermatology, medical genetics
Papillon–Lefèvre syndrome (PLS), also known as palmoplantar keratoderma with periodontitis,[1][2] is an autoso... | Papillon–Lefèvre syndrome | c0030360 | 5,712 | wikipedia | https://en.wikipedia.org/wiki/Papillon%E2%80%93Lef%C3%A8vre_syndrome | 2021-01-18T18:38:09 | {"gard": ["3100"], "mesh": ["D010214"], "umls": ["C0030360"], "orphanet": ["678"], "wikidata": ["Q2050791"]} |
Sequeiros and Martins da Silva (1988) studied a large family with 6 cases of sudden infant death syndrome (SIDS; 272120) and at least 4 cases of infantile sleep apnea ('near-miss SIDS') that occurred in 2 successive generations. They postulated that a structural CNS defect or a delay in maturation inherited in an aut... | APNEA, CENTRAL SLEEP | c0520680 | 5,713 | omim | https://www.omim.org/entry/107640 | 2019-09-22T16:44:52 | {"mesh": ["D020182"], "omim": ["107640"]} |
Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe. Because there is so much overlap betwee... | Mucopolysaccharidosis type I | c0086795 | 5,714 | medlineplus | https://medlineplus.gov/genetics/condition/mucopolysaccharidosis-type-i/ | 2021-01-27T08:25:15 | {"gard": ["10335"], "mesh": ["D008059"], "omim": ["607014", "607015", "607016"], "synonyms": []} |
Oculopharyngeal muscular dystrophy is a genetic condition characterized by muscle weakness that begins in adulthood, typically after age 40. The term "oculopharyngeal" refers to the eyes (oculo-) and a part of the throat called the pharynx (-pharyngeal). Affected individuals usually first experience weakness of the m... | Oculopharyngeal muscular dystrophy | c0270952 | 5,715 | medlineplus | https://medlineplus.gov/genetics/condition/oculopharyngeal-muscular-dystrophy/ | 2021-01-27T08:25:07 | {"gard": ["7245"], "mesh": ["D039141"], "omim": ["164300"], "synonyms": []} |
## Description
Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis. When hemangiomata are associated, the condition is known as Maffucci syndrome (614569). Clinical problems caused by enchondromas include skeletal deformity and the p... | ENCHONDROMATOSIS, MULTIPLE, OLLIER TYPE | c0014084 | 5,716 | omim | https://www.omim.org/entry/166000 | 2019-09-22T16:37:03 | {"doid": ["4624"], "mesh": ["D004687"], "omim": ["166000"], "icd-10": ["Q78.4"], "orphanet": ["296"], "synonyms": ["Alternative titles", "OLLIER DISEASE", "OSTEOCHONDROMATOSIS", "DYSCHONDROPLASIA"]} |
A number sign (#) is used with this entry because of evidence that Kabuki syndrome-2 (KABUK2) is caused by mutation in the KDM6A gene (300128) on chromosome Xp11.
Description
Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies charact... | KABUKI SYNDROME 2 | c0796004 | 5,717 | omim | https://www.omim.org/entry/300867 | 2019-09-22T16:19:20 | {"doid": ["0060473"], "mesh": ["C537705"], "omim": ["300867"], "orphanet": ["2322"], "genereviews": ["NBK62111"]} |
Not to be confused with Central sleep apnea.
Central hypoventilation syndrome
Other namesOndine's curse, primary alveolar hypoventilation, alveolar hypoventilation secondary to neurologic disease, idiopathic acquired central hypoventilation syndrome
Ondine by John William Waterhouse (1849–1917)
SpecialtyNeurol... | Central hypoventilation syndrome | c1859049 | 5,718 | wikipedia | https://en.wikipedia.org/wiki/Central_hypoventilation_syndrome | 2021-01-18T18:28:53 | {"gard": ["8535"], "mesh": ["C536209"], "icd-9": ["348.8"], "orphanet": ["99803", "661"], "wikidata": ["Q979129"]} |
For a phenotypic description and a discussion of genetic heterogeneity of familial abdominal aortic aneurysm, see AAA1 (100070).
Mapping
Shibamura et al. (2004) performed a whole-genome scan of AAA using affected relative-pair (ARP) linkage analysis that included covariates to allow for genetic heterogeneity. T... | AORTIC ANEURYSM, FAMILIAL ABDOMINAL, 2 | c1853364 | 5,719 | omim | https://www.omim.org/entry/609782 | 2019-09-22T16:05:40 | {"doid": ["7693"], "mesh": ["C565229"], "omim": ["609782", "100070"], "orphanet": ["86"], "synonyms": []} |
Acute intermittent porphyria
Other namesSwedish porphyria, pyrroloporphyria, intermittent acute porphyria
Porphobilinogen
SpecialtyMedical genetics
Acute intermittent porphyria (AIP) is a rare metabolic disorder affecting the production of heme resulting from a deficiency of the porphobilinogen deaminase. ... | Acute intermittent porphyria | c0162565 | 5,720 | wikipedia | https://en.wikipedia.org/wiki/Acute_intermittent_porphyria | 2021-01-18T18:31:30 | {"gard": ["5732"], "mesh": ["D017118"], "umls": ["C0162565"], "icd-9": ["277.1"], "icd-10": ["E80.2"], "orphanet": ["79276"], "wikidata": ["Q424247"]} |
A number sign (#) is used with this entry because hypomaturation-type amelogenesis imperfecta IIA5 (AI2A5) is caused by homozygous mutation in the SLC24A4 gene (609840) on chromosome 14q32.
Description
Autosomal recessive amelogenesis imperfecta of the pigmented hypomaturation type is characterized by enamel of... | AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5 | c0399372 | 5,721 | omim | https://www.omim.org/entry/615887 | 2019-09-22T15:50:43 | {"doid": ["0110063"], "mesh": ["C536606"], "omim": ["615887"], "orphanet": ["100033", "88661"]} |
## Clinical Features
Bixler et al. (1969) described 2 sisters who had hypertelorism, microtia, and clefting of the lip, palate, and nose. In addition, they showed psychomotor retardation, atretic auditory canals, conductive hearing loss, mild micrognathia, microcephaly, thenar hypoplasia, and ectopic kidneys. Both ... | HYPERTELORISM, MICROTIA, FACIAL CLEFTING SYNDROME | c0220742 | 5,722 | omim | https://www.omim.org/entry/239800 | 2019-09-22T16:26:46 | {"doid": ["14670"], "mesh": ["C537632"], "omim": ["239800"], "orphanet": ["2213"], "synonyms": ["Alternative titles", "HMC SYNDROME"]} |
X-linked myotubular myopathy
Other namesXLMTM
This condition is inherited in an X-linked recessive manner.
X-linked myotubular myopathy (MTM) is a form of centronuclear myopathy (CNM) associated with myotubularin 1.
Genetically inherited traits and conditions are often referred to based upon whether they ar... | X-linked myotubular myopathy | c0410203 | 5,723 | wikipedia | https://en.wikipedia.org/wiki/X-linked_myotubular_myopathy | 2021-01-18T18:32:14 | {"gard": ["11925"], "mesh": ["C538647", "D020914"], "orphanet": ["596"], "wikidata": ["Q3331454"]} |
This article's lead section may be too short to adequately summarize its key points. Please consider expanding the lead to provide an accessible overview of all important aspects of the article. (April 2016)
Vocal Cord Dysfunction
Other namesParadoxical Vocal Fold Motion (PVFM) or Paradoxical Vocal Cord Mo... | Vocal cord dysfunction | c0859897 | 5,724 | wikipedia | https://en.wikipedia.org/wiki/Vocal_cord_dysfunction | 2021-01-18T18:59:49 | {"mesh": ["D064706"], "icd-9": ["478.3", "478.5"], "wikidata": ["Q1718230"]} |
Necrobiotic xanthogranuloma is a rare, chronic and progressive, non-Langerhans cell histiocytosis disease typically characterized by multiple, indurated, asymptomatic to pruritic, yellow-orange plaques or nodules that tend to ulcerate and are usually located in the periorbital area, trunk and/or extremities. Stro... | Necrobiotic xanthogranuloma | c1275339 | 5,725 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=158011 | 2021-01-23T18:23:36 | {"gard": ["10951"], "mesh": ["D058252"], "umls": ["C1275339"], "icd-10": ["D76.3"]} |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, seizures, abnormal gait, and craniofacial dysmorphism (including coarse features, depressed nasal bridge, anteverted nares, broad nasal tip, prominent maxilla and upper lip, wide mout... | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome | c4539927 | 5,726 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=513456 | 2021-01-23T17:37:35 | {"omim": ["617616"], "synonyms": ["Skraban-Deardorff syndrome"]} |
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Find sources: "MODY 4" – news · newspapers · books · scholar · JSTOR (March 2018) (Learn how and when to remove this template message)... | MODY 4 | c1833382 | 5,727 | wikipedia | https://en.wikipedia.org/wiki/MODY_4 | 2021-01-18T18:48:45 | {"mesh": ["C563451"], "wikidata": ["Q6717005"]} |
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Find sources: "Abortion in Afghanistan" – news · newspapers · books · scholar · JSTOR (June 2018) (Learn how and when to remove this t... | Abortion in Afghanistan | None | 5,728 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_Afghanistan | 2021-01-18T19:02:05 | {"wikidata": ["Q19568841"]} |
Psychomotor symptom of catatonia, abnormal maintenance of postures
Not to be confused with Cataplexy.
For the band, see Catalepsy (band).
"Cataleptic" redirects here. For the poetry term, see catalectic.
Catalepsy
SpecialtyPsychiatry
Catalepsy (from Ancient Greek katálēpsis, κατάληψις, "seizing, graspi... | Catalepsy | c0007370 | 5,729 | wikipedia | https://en.wikipedia.org/wiki/Catalepsy | 2021-01-18T19:02:06 | {"mesh": ["D002375"], "icd-9": ["300.11", "295.2"], "icd-10": ["F20.2", "F44.2"], "wikidata": ["Q918193"]} |
Spitz nevus
Spitz nevus
SpecialtyOncology, Dermatology
Prognosisbenign
A Spitz nevus is a benign skin lesion. A type of melanocytic nevus, it affects the epidermis and dermis.[1]
It is also known as an epithelioid and spindle-cell nevus,[2] and misleadingly as a benign juvenile melanoma,[2]:691 and Sp... | Spitz nevus | c0206739 | 5,730 | wikipedia | https://en.wikipedia.org/wiki/Spitz_nevus | 2021-01-18T18:44:23 | {"gard": ["10412"], "mesh": ["D018332"], "icd-10": ["D22"], "wikidata": ["Q2311457"]} |
Group of blood cancers that usually begin in the bone marrow
For the journal, see Leukemia (journal). For animal diseases, see Leucosis.
Leukemia
Other namesLeukaemia
A Wright's stained bone marrow aspirate smear from a person with B-cell acute lymphoblastic leukemia.
Pronunciation
* /luːˈkiːmiːə/[1]
... | Leukemia | c0023418 | 5,731 | wikipedia | https://en.wikipedia.org/wiki/Leukemia | 2021-01-18T18:38:35 | {"mesh": ["D007938"], "umls": ["C0023418"], "wikidata": ["Q29496"]} |
Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe... | Obesity due to melanocortin 4 receptor deficiency | c0028754 | 5,732 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=71529 | 2021-01-23T18:28:04 | {"mesh": ["D009765"], "omim": ["601665", "618406"], "icd-10": ["E66.8"], "synonyms": ["MC4R deficiency"]} |
A number sign (#) is used with this entry because of evidence that cerebrocostomandibular syndrome (CCMS) is caused by heterozygous mutation in the SNRPB gene (182282) on chromosome 20p13.
Description
Cerebrocostomandibular syndrome (CCMS) is characterized mainly by severe micrognathia, rib defects, and mental reta... | CEREBROCOSTOMANDIBULAR SYNDROME | c0265342 | 5,733 | omim | https://www.omim.org/entry/117650 | 2019-09-22T16:43:33 | {"doid": ["0111248"], "mesh": ["C562538"], "omim": ["117650"], "orphanet": ["1393"], "synonyms": ["Alternative titles", "RIB GAP DEFECTS WITH MICROGNATHIA"]} |
A rare intestinal disease characterized by potentially life-threatening inflammatory bowel necrosis predominantly affecting preterm neonates. Patients may present with feeding intolerance, lethargy, temperature instability, abdominal distention, blood-stained stools, diarrhea, bilious vomiting, apnea, and signs of se... | Necrotizing enterocolitis | c0520459 | 5,734 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=391673 | 2021-01-23T18:23:46 | {"gard": ["9767"], "mesh": ["D020345"], "umls": ["C0520459"], "icd-10": ["P77"]} |
Fear, hatred towards, demonization of, or prejudice against people generally referred to as Tatars
Part of a series on
Discrimination
General forms
* Age
* Class (Caste)
* Physical Disability
* Education
* Economic
* Employment
* Genetics
* Hair texture
* Height
* Housing
* Language
*... | Tatarophobia | None | 5,735 | wikipedia | https://en.wikipedia.org/wiki/Tatarophobia | 2021-01-18T18:47:05 | {"wikidata": ["Q85805264"]} |
Atrophic lichen planus (LP) is a rare form of lichen planus, which is a condition that affects the skin and/or mouth. In atrophic LP, specifically, affected people develop pale papules or plaques with an atrophic (broken down tissue) center. Although these papules can be found anywhere on the body, they most comm... | Atrophic lichen planus | c0023647 | 5,736 | gard | https://rarediseases.info.nih.gov/diseases/12675/atrophic-lichen-planus | 2021-01-18T18:02:00 | {"umls": ["C0023647"], "icd-10": ["L43.8"], "orphanet": ["254449"], "synonyms": ["Atrophic LP"]} |
A number sign (#) is used with this entry because of evidence that late-onset or sporadic Parkinson disease (PD) can have more than one genetic and/or environmental cause.
Description
Parkinson disease was first described by James Parkinson in 1817. It is the second most common neurodegenerative disorder after Alzh... | PARKINSON DISEASE, LATE-ONSET | c3160718 | 5,737 | omim | https://www.omim.org/entry/168600 | 2019-09-22T16:36:35 | {"omim": ["168600"], "synonyms": ["Alternative titles", "PARK"], "genereviews": ["NBK1208", "NBK1223"]} |
## Description
Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complicat... | ATRIAL FIBRILLATION, FAMILIAL, 8 | c2751607 | 5,738 | omim | https://www.omim.org/entry/613055 | 2019-09-22T15:59:54 | {"doid": ["0050650"], "mesh": ["C567802"], "omim": ["613055", "608583"], "orphanet": ["334"], "synonyms": []} |
A number sign (#) is used with this entry because this form of hypoplastic amelogenesis imperfecta (AI1E) is caused by mutation in the gene encoding amelogenin (AMELX; 300391).
Description
Amelogenesis imperfecta is an inherited defect of dental enamel formation that shows both clinical and genetic heterogeneity. I... | AMELOGENESIS IMPERFECTA, TYPE IE | c0399372 | 5,739 | omim | https://www.omim.org/entry/301200 | 2019-09-22T16:18:48 | {"doid": ["0110058"], "mesh": ["C536606"], "omim": ["301200"], "orphanet": ["100033", "88661"], "synonyms": ["Alternative titles", "AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1", "AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, WITH SNOW-CAPPED TEETH", "AMELOGENESIS IMPERFECTA, X-LINKED 1", "ENAMEL HYP... |
A rare inborn error of metabolism characterized by congenital asplenia and childhood or adolescent onset of generalized inflammation, persistent intravascular hemolysis and anemia, severe endothelial injury with abnormal coagulation, bleeding diathesis, and nephropathy. Additional reported manifestations include grow... | Heme oxygenase-1 deficiency | c1841651 | 5,740 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=562509 | 2021-01-23T18:19:07 | {"mesh": ["C564200"], "omim": ["614034"], "synonyms": ["HO-1 deficiency"]} |
Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingu... | Orofaciodigital syndrome type 14 | c4014780 | 5,741 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=434179 | 2021-01-23T18:17:26 | {"omim": ["615948"], "icd-10": ["Q87.0"], "synonyms": ["Microcephaly-cerebral malformation-orofaciodigital syndrome", "OFD14", "Oral-facial-digital syndrome type 14"]} |
Familial pityriasis rubra pilaris is a rare genetic condition that affects the skin. The name of the condition reflects its major features: The term "pityriasis" refers to scaling; "rubra" means redness; and "pilaris" suggests the involvement of hair follicles in this disorder. Affected individuals have a salmon-colo... | Familial pityriasis rubra pilaris | c0032027 | 5,742 | medlineplus | https://medlineplus.gov/genetics/condition/familial-pityriasis-rubra-pilaris/ | 2021-01-27T08:25:04 | {"gard": ["7401"], "mesh": ["D010916"], "omim": ["173200"], "synonyms": []} |
Cancer originating in or on the ovary
Ovarian cancer
Micrograph of a mucinous ovarian carcinoma stained by H&E.
SpecialtyOncology, gynecology
SymptomsEarly: vague[1]
Later: bloating, pelvic pain, abdominal swelling, loss of appetite[1]
Usual onsetUsual age of diagnosis 63 years old[2]
TypesOvarian carcin... | Ovarian cancer | c1140680 | 5,743 | wikipedia | https://en.wikipedia.org/wiki/Ovarian_cancer | 2021-01-18T18:41:08 | {"gard": ["7295"], "mesh": ["D010051"], "umls": ["C1299247", "C0919267", "C1140680"], "orphanet": ["213517", "213500"], "wikidata": ["Q172341"]} |
Breast cancer (BC) is the most common cancer in women, accounting for 25% of all new cases of cancer. Most BC cases are sporadic, while 5-10% are estimated to be due to an inherited predisposition.
## Epidemiology
Prevalence of germline BRCA mutations has been estimated to be about 1:1,600 women in the general ... | Hereditary breast and ovarian cancer syndrome | c0677776 | 5,744 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=145 | 2021-01-23T18:02:47 | {"mesh": ["D061325"], "omim": ["604370", "612555", "613399", "614291"], "umls": ["C0677776"], "icd-10": ["C50", "C56"]} |
## Summary
### Clinical characteristics.
Hereditary coproporphyria (HCP) is an acute (hepatic) porphyria in which the acute symptoms are neurovisceral and occur in discrete episodes. Attacks typically start in the abdomen with low-grade pain that slowly increases over a period of days (not hours) with nausea progre... | Hereditary Coproporphyria | c0162531 | 5,745 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK114807/ | 2021-01-18T21:21:53 | {"mesh": ["D046349"], "synonyms": []} |
Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay.
## Epidemiology
To date, approximately 40 cases of trisomy 10q have been reported.
## Clinical description
Mos... | Distal trisomy 10q | c2931731 | 5,746 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=96102 | 2021-01-23T18:15:26 | {"mesh": ["C538087"], "umls": ["C2931728", "C2931731"], "icd-10": ["Q92.3"], "synonyms": ["Distal duplication 10q", "Telomeric duplication 10q", "Trisomy 10qter"]} |
This article may be too technical for most readers to understand. Please help improve it to make it understandable to non-experts, without removing the technical details. (April 2019) (Learn how and when to remove this template message)
Malignant rhabdoid tumour
SpecialtyOncology
Malignant rhabdoid tumour... | Malignant rhabdoid tumour | c0206743 | 5,747 | wikipedia | https://en.wikipedia.org/wiki/Malignant_rhabdoid_tumour | 2021-01-18T18:40:03 | {"gard": ["7572"], "mesh": ["D018335"], "umls": ["C0206743"], "orphanet": ["69077"], "wikidata": ["Q6743515"]} |
A rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associ... | Multiple congenital anomalies-hypotonia-seizures syndrome type 2 | c3275508 | 5,748 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=300496 | 2021-01-23T17:57:04 | {"gard": ["12777"], "omim": ["300868"], "icd-10": ["Q87.8"], "synonyms": ["MCAHS type 2"]} |
Maternally inherited diabetes and deafness (MIDD) is a form of diabetes that is often accompanied by hearing loss, especially of high tones. The diabetes in MIDD is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin, which regulates the amount of sugar in the blo... | Maternally inherited diabetes and deafness | c0342289 | 5,749 | medlineplus | https://medlineplus.gov/genetics/condition/maternally-inherited-diabetes-and-deafness/ | 2021-01-27T08:25:49 | {"gard": ["4003"], "mesh": ["C536246"], "omim": ["520000"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that the Ogna type of epidermolysis bullosa simplex (EBSOG) is caused by heterozygous mutation in the PLEC1 gene (601282) on chromosome 8q24.
Clinical Features
This form of EBS was identified by Gedde-Dahl (1971) in a large Norwegian kindred living in th... | EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE | c0432317 | 5,750 | omim | https://www.omim.org/entry/131950 | 2019-09-22T16:41:32 | {"doid": ["0060736"], "mesh": ["C535962"], "omim": ["131950"], "orphanet": ["79401"]} |
Paroxysmal dyskinesia
Other namesParoxysmal dystonic choreoathetosis
SpecialtyNeurology
The paroxysmal dyskinesias (PD) are a group of movement disorders characterized by attacks of hyperkinesia with intact consciousness.[1] Paroxysmal dyskinesia is a rare disorder, however the number of individuals it affec... | Paroxysmal dyskinesia | c0752210 | 5,751 | wikipedia | https://en.wikipedia.org/wiki/Paroxysmal_dyskinesia | 2021-01-18T18:39:08 | {"mesh": ["D002819"], "umls": ["C0752210"], "orphanet": ["1431"], "wikidata": ["Q7139584"]} |
Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (includ... | Seizures-scoliosis-macrocephaly syndrome | c4225248 | 5,752 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=466926 | 2021-01-23T17:14:52 | {"omim": ["616682"], "synonyms": ["SSM syndrome"]} |
Abortion in Armenia is legal on request up to 12 weeks of pregnancy, and in special circumstances between 12 weeks and 22 weeks.[1] Abortion has been legal since November 23, 1955, when Armenia was a republic of the Soviet Union.[2][3] Pregnancies may be ended on request by the mother until the twelfth week and for m... | Abortion in Armenia | None | 5,753 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_Armenia | 2021-01-18T18:34:02 | {"wikidata": ["Q625835"]} |
Phaeohyphomycosis refers to fungal infections caused by dematiaceous (darkly pigmented) fungi. It can be associated with a variety of clinical syndromes including invasive sinusitis; nodules or abscesses beneath the skin; keratitis; lung masses; osteomyelitis; mycotic arthritis; endocarditis; brain abscess; and w... | Phaeohyphomycosis | c0276721 | 5,754 | gard | https://rarediseases.info.nih.gov/diseases/12803/phaeohyphomycosis | 2021-01-18T17:58:21 | {"mesh": ["D060446"], "synonyms": []} |
Pulmonary heart disease
Other namesCor pulmonale
Right ventricular hypertrophy
SpecialtyPulmonology
SymptomsCyanosis, wheezing[1]
CausesPrimary pulmonary hypertension[2]
Diagnostic methodEKG, Thrombophilia screen [1]
TreatmentVasodilators, Diuretics[3]
Pulmonary heart disease, also known as cor pul... | Pulmonary heart disease | c0034072 | 5,755 | wikipedia | https://en.wikipedia.org/wiki/Pulmonary_heart_disease | 2021-01-18T18:53:34 | {"mesh": ["D011660"], "umls": ["C0034072"], "icd-9": ["415.0"], "wikidata": ["Q1131786"]} |
A number sign (#) is used with this entry because type III GM1-gangliosidosis is caused by mutation in the gene encoding beta-galactosidase-1 (GLB1; 611458).
For a general discussion of classification and phenotypic heterogeneity of GM1-gangliosidosis, see type I (230500).
Description
GM1-gangliosidosis type I... | GM1-GANGLIOSIDOSIS, TYPE III | c0085131 | 5,756 | omim | https://www.omim.org/entry/230650 | 2019-09-22T16:27:39 | {"doid": ["0080489"], "mesh": ["D016537"], "omim": ["230650"], "orphanet": ["354", "79257"], "synonyms": ["Alternative titles", "GANGLIOSIDOSIS, GENERALIZED GM1, ADULT TYPE", "GANGLIOSIDOSIS, GENERALIZED GM1, CHRONIC TYPE", "GANGLIOSIDOSIS, GENERALIZED GM1, TYPE III", "GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 3"], "genere... |
A rare hepatic disease characterized by immune-mediated, acute or chronic liver inflammation, clinically presenting as cryptogenic hepatitis, with interface hepatitis on histological examination, elevated serum aminotransferase levels, and hypergammaglobulinemia, in the presence or absence of specific circulating aut... | Autoimmune hepatitis | c0241910 | 5,757 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2137 | 2021-01-23T18:04:46 | {"gard": ["5871"], "mesh": ["D019693"], "umls": ["C0241910"], "icd-10": ["K75.4"], "synonyms": ["AIH"]} |
Linear lichen planus (LLP) is a rare form of lichen planus, which is a condition that affects the skin and/or mouth. In LLP, specifically, affected people develop itchy, purple, flat-topped papules (bumps) in a linear distribution along the lines of Blaschko. Although these papules can be found anywhere on the body, ... | Linear lichen planus | c0023650 | 5,758 | gard | https://rarediseases.info.nih.gov/diseases/11898/linear-lichen-planus | 2021-01-18T17:59:22 | {"orphanet": ["254379"], "synonyms": ["Blaschkoid LP", "Blaschkoid lichen planus", "Linear LP", "LLP"]} |
Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy.
*[v]: View this template
*[t]... | Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome | c2931767 | 5,759 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=228012 | 2021-01-23T16:55:32 | {"mesh": ["C538197"], "omim": ["606346"], "synonyms": ["Progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome", "Progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome", "Progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome"]} |
## Summary
### Clinical characteristics.
Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeletal muscle hypermetabolism. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e.,... | Malignant Hyperthermia Susceptibility | c0024591 | 5,760 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1146/ | 2021-01-18T21:12:52 | {"mesh": ["D008305"], "synonyms": ["Malignant Hyperpyrexia"]} |
Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia (see this term) characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD... | Episodic ataxia type 4 | c1847843 | 5,761 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79136 | 2021-01-23T18:41:06 | {"mesh": ["C564698"], "omim": ["606552"], "umls": ["C1847843"], "icd-10": ["G11.8"], "synonyms": ["PATX", "Periodic vestibulocerebellar ataxia"]} |
Gould (1854) described 2 sibs with this combination.
*[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
... | ICHTHYOSIS CONGENITA WITH BILIARY ATRESIA | c0400974 | 5,762 | omim | https://www.omim.org/entry/242400 | 2019-09-22T16:26:33 | {"mesh": ["C562886"], "omim": ["242400"]} |
HIV/AIDS has been a public health concern for Latin America due to a remaining prevalence of the disease.[1] In 2018 an estimated 2.2 million people had HIV in Latin America and the Caribbean, making the HIV prevalence rate approximately 0.4% in Latin America.[1]
Some demographic groups in Latin America have higher ... | HIV/AIDS in Latin America | None | 5,763 | wikipedia | https://en.wikipedia.org/wiki/HIV/AIDS_in_Latin_America | 2021-01-18T18:31:40 | {"wikidata": ["Q5629856"]} |
Encephalocraniocutaneous lipomatosis (ECCL) is a rare condition that primarily affects the brain, eyes, and skin of the head and face. Most of this condition's signs and symptoms are present from birth, and they vary widely among affected individuals.
A hallmark feature of ECCL is a noncancerous tumor under the ... | Encephalocraniocutaneous lipomatosis | c0406612 | 5,764 | medlineplus | https://medlineplus.gov/genetics/condition/encephalocraniocutaneous-lipomatosis/ | 2021-01-27T08:25:53 | {"gard": ["2108"], "mesh": ["C535736"], "omim": ["613001"], "synonyms": []} |
Neurological condition
Dysgraphia
SpecialtyPsychiatry, Pediatrics
SymptomsPoor handwriting and spelling
Dysgraphia is a deficiency in the ability to write, primarily handwriting, but also coherence.[1] Dysgraphia is a transcription disability, meaning that it is a writing disorder associated with impaired h... | Dysgraphia | c0234144 | 5,765 | wikipedia | https://en.wikipedia.org/wiki/Dysgraphia | 2021-01-18T19:10:05 | {"mesh": ["D000381"], "umls": ["C0001825", "C0234144"], "icd-9": ["784.69", "315.2", "784.61"], "wikidata": ["Q584560"]} |
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)
Diffuse unilateral subacute neuroretinitis
Left eye retina photograph shows moving nematode larva at the macular area [1]
Diffu... | Diffuse unilateral subacute neuroretinitis | c0339404 | 5,766 | wikipedia | https://en.wikipedia.org/wiki/Diffuse_unilateral_subacute_neuroretinitis | 2021-01-18T19:04:54 | {"umls": ["C0339404"], "wikidata": ["Q5275425"]} |
Benign partial epilepsy with secondarily generalized seizures in infancy is a rare infantile epilepsy syndrome characterized by seizures presenting with motion arrest and staring. They are followed by generalized tonic-clonic convulsions with normal interictal EEG and focal paroxysmal discharges, followed by gene... | Benign partial epilepsy with secondarily generalized seizures in infancy | None | 5,767 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=166302 | 2021-01-23T19:01:42 | {"icd-10": ["G40.1"]} |
Hernandez et al. (1996) described an 8-year-old boy with generalized osteoporosis and oculocutaneous hypopigmentation syndrome (OOCH) without cerebral defects. The child was born of a 47-year-old father and 20-year-old mother, both of Mexican extraction, who denied consanguinity. There was no family history of albini... | OSTEOPOROSIS AND OCULOCUTANEOUS HYPOPIGMENTATION SYNDROME | c1832592 | 5,768 | omim | https://www.omim.org/entry/601220 | 2019-09-22T16:15:13 | {"mesh": ["C536062"], "omim": ["601220"], "orphanet": ["2786"]} |
A rare autosomal recessive primary immunodeficiency characterized by severe reduction in the cell surface expression of HLA class I molecules, typically resulting in childhood-onset of chronic bacterial infections of the respiratory tract evolving to widespread bronchiectasis and respiratory insufficiency. Sterile ne... | Immunodeficiency by defective expression of MHC class I | c1858266 | 5,769 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=34592 | 2021-01-23T19:08:44 | {"gard": ["8427"], "mesh": ["C565759"], "omim": ["241600", "604571"], "umls": ["C1858266"], "icd-10": ["D81.6"], "synonyms": ["Bare lymphocyte syndrome type 1", "MHC class I deficiency"]} |
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome (see this term), is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acrony... | Mayer-Rokitansky-Küster-Hauser syndrome type 2 | c1832817 | 5,770 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2578 | 2021-01-23T17:57:15 | {"gard": ["5513"], "mesh": ["C537371"], "omim": ["601076"], "umls": ["C1832817"], "icd-10": ["Q87.8"], "synonyms": ["Atypical MRKH syndrome", "MRKH syndrome type 2", "MURCS association", "Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome"]} |
Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia,... | Tetrasomy 9p | c0795832 | 5,771 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3310 | 2021-01-23T17:42:23 | {"gard": ["42"], "mesh": ["C538027"], "umls": ["C0795832"], "icd-10": ["Q99.8"], "synonyms": ["Isochromosome 9p"]} |
A rare developmental defect of the eye characterized by usually bilateral absence of the normal protrusion of the cornea from the sclera, the corneal curvature being the same as that of the adjacent sclera. Most patients develop hyperopia, hazy corneal limbus, and arcus lipoides at an early age. The condition may pre... | Congenital cornea plana | c1852557 | 5,772 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=53691 | 2021-01-23T17:09:00 | {"mesh": ["C565158"], "omim": ["121400", "217300"], "icd-10": ["Q13.4"]} |
Cutaneous amoebiasis
Other namesAoebiasis cutis,[1]
SpecialtyInfectious disease
Cutaneous amoebiasis, refers to a form of amoebiasis that presents primarily in the skin. It can be caused by Acanthamoeba[2][3] or Entamoeba histolytica.[4]:421[5] When associated with Acanthamoeba, it is also known as "cutaneou... | Cutaneous amoebiasis | c0002441 | 5,773 | wikipedia | https://en.wikipedia.org/wiki/Cutaneous_amoebiasis | 2021-01-18T18:53:28 | {"umls": ["C0002441"], "icd-9": ["006.6"], "icd-10": ["A06.7"], "wikidata": ["Q5196686"]} |
Not to be confused with Sudden arrhythmic death syndrome.
Sudden Death Syndrome (SDS), a disease in soybean plants, quickly spread across the southern United States in the 1970s, eventually reaching most agricultural areas of the US. SDS is caused by a Fusarium fungi, more specifically the soil-borne root pathog... | Sudden Death Syndrome | None | 5,774 | wikipedia | https://en.wikipedia.org/wiki/Sudden_Death_Syndrome | 2021-01-18T18:39:22 | {"wikidata": ["Q30314063"]} |
A number sign (#) is used with this entry because hereditary sensory neuropathy type IIC (HSN2C) is caused by homozygous or compound heterozygous mutation in the KIF1A gene (601255) on chromosome 2q37.
Mutation in the KIF1A gene can also cause hereditary spastic paraplegia-30 (SPG30; 610357).
Description
HSN2C is ... | NEUROPATHY, HEREDITARY SENSORY, TYPE IIC | c0020072 | 5,775 | omim | https://www.omim.org/entry/614213 | 2019-09-22T15:56:06 | {"doid": ["0070147"], "mesh": ["D009477"], "omim": ["614213"], "orphanet": ["970"], "genereviews": ["NBK49247"]} |
Pityriasis rubra pilaris (PRP) refers to a group of skin conditions that cause constant inflammation and scaling of the skin. People with PRP have reddish, scaly patches that may occur everywhere on the body, or only on certain areas. Some people with PRP also develop thickened skin on the underside of the hands and ... | Pityriasis rubra pilaris | c0032027 | 5,776 | gard | https://rarediseases.info.nih.gov/diseases/7401/pityriasis-rubra-pilaris | 2021-01-18T17:58:18 | {"mesh": ["D010916"], "omim": ["173200"], "orphanet": ["2897"], "synonyms": []} |
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. Th... | Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome | None | 5,777 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=88643 | 2021-01-23T18:28:11 | {} |
A number sign (#) is used with this entry because of evidence that hereditary megaloblastic anemia-1 can be caused by mutation in the gene encoding cubilin (CUBN; 602997) or the AMN (605799) gene.
The CUBN and AMN gene products form a complex that acts as a receptor for vitamin B12 and gastric intrinsic factor (GIF;... | MEGALOBLASTIC ANEMIA 1 | c1306856 | 5,778 | omim | https://www.omim.org/entry/261100 | 2019-09-22T16:23:35 | {"doid": ["13382"], "omim": ["261100"], "icd-10": ["D51.1"], "orphanet": ["35858"], "synonyms": ["Alternative titles", "MGA1", "IMERSLUND-GRASBECK SYNDROME", "PERNICIOUS ANEMIA, JUVENILE, DUE TO SELECTIVE INTESTINAL MALABSORPTION OF VITAMIN B12, WITH PROTEINURIA", "ENTEROCYTE COBALAMIN MALABSORPTION", "ENTEROCYTE INTRI... |
Pigmented wart
SpecialtyDermatology
Pigmented warts are a cutaneous condition commonly reported in Japan, most often occurring on the hands or feet.[1]:404
## See also[edit]
* Skin lesion
* List of cutaneous conditions
## References[edit]
1. ^ James, William D.; Berger, Timothy G.; et al. (2006). And... | Pigmented wart | None | 5,779 | wikipedia | https://en.wikipedia.org/wiki/Pigmented_wart | 2021-01-18T18:48:44 | {"wikidata": ["Q7193413"]} |
Pseudopseudohypoparathyroid
SpecialtyRheumatology, medical genetics, endocrinology
Usual onsetBefore birth
DurationLifetime
Differential diagnosisPseudohypoparathyroidism, hypoparathyroidism, Albright's hereditary osteodystrophy
TreatmentTreatments to reduce symptoms, genetic counseling
Pseudopseud... | Pseudopseudohypoparathyroidism | c0033835 | 5,780 | wikipedia | https://en.wikipedia.org/wiki/Pseudopseudohypoparathyroidism | 2021-01-18T18:28:21 | {"gard": ["7860"], "mesh": ["D011556"], "umls": ["C0033835"], "icd-9": ["275.49"], "orphanet": ["665", "79445"], "wikidata": ["Q1477265"]} |
Xeroderma pigmentosum
Other namesDeSanctis-Cacchione syndrome[1][2]
XP1 / XP2 / XP3 / XP4 / XP5 / XP6 / XP7 [3]
Xeroderma pigmentosum I/II/III/IV/V/VI/VII [3]
Xeroderma pigmentosum complementation group A/B/C/D/E/F/G [3]
xeroderma pigmentosum group A/B/C/D/E/F/G [3]
An eight-year-old girl from Guatemala w... | Xeroderma pigmentosum | c0043346 | 5,781 | wikipedia | https://en.wikipedia.org/wiki/Xeroderma_pigmentosum | 2021-01-18T18:57:55 | {"gard": ["7910"], "mesh": ["D014983"], "umls": ["C0043346"], "icd-9": ["757.33"], "orphanet": ["910"], "wikidata": ["Q612693"]} |
This article needs attention from an expert in medicine. Please add a reason or a talk parameter to this template to explain the issue with the article. WikiProject Medicine may be able to help recruit an expert. (March 2009)
FACES syndrome
Other namesFriedman-Goodman syndrome
FACES syndrome is a synd... | FACES syndrome | c2931183 | 5,782 | wikipedia | https://en.wikipedia.org/wiki/FACES_syndrome | 2021-01-18T18:30:14 | {"gard": ["2387", "2221"], "mesh": ["C536384"], "umls": ["C2931183"], "orphanet": ["1969"], "wikidata": ["Q5424297"]} |
Auditory fatigue is defined as a temporary loss of hearing after exposure to sound. This results in a temporary shift of the auditory threshold known as a temporary threshold shift (TTS). The damage can become permanent (permanent threshold shift, PTS) if sufficient recovery time is not allowed before continued s... | Auditory fatigue | c0039491 | 5,783 | wikipedia | https://en.wikipedia.org/wiki/Auditory_fatigue | 2021-01-18T19:07:01 | {"mesh": ["D001305"], "wikidata": ["Q4820025"]} |
Peutz-Jeghers syndrome
Micrograph of Peutz-Jeghers type colonic polyp. H&E stain.
SpecialtyMedical genetics
Peutz–Jeghers syndrome (often abbreviated PJS) is an autosomal dominant genetic disorder characterized by the development of benign hamartomatous polyps in the gastrointestinal tract and hyperpigmented... | Peutz–Jeghers syndrome | c0031269 | 5,784 | wikipedia | https://en.wikipedia.org/wiki/Peutz%E2%80%93Jeghers_syndrome | 2021-01-18T18:45:13 | {"gard": ["7378"], "mesh": ["D010580"], "umls": ["C0456487", "C0031269", "C0265323"], "icd-9": ["759.6"], "orphanet": ["2869"], "wikidata": ["Q1544989"]} |
A number sign (#) is used with this entry because of evidence that focal segmental glomerulosclerosis-7 (FSGS7) is caused by heterozygous mutation in the PAX2 gene (167409) on chromosome 10q24.
Mutation in the PAX2 gene can also cause papillorenal syndrome (PAPRS; 120330), a more severe disorder with some overla... | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7 | c1868672 | 5,785 | omim | https://www.omim.org/entry/616002 | 2019-09-22T15:50:16 | {"doid": ["0111132"], "mesh": ["C536404"], "omim": ["616002"], "orphanet": ["656"], "synonyms": ["Alternative titles", "GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7"]} |
Chromophobe renal cell carcinoma is a rare subtype of the most common form of kidney cancer called renal cell carcinoma (RCC). This type of cancer forms in the cells lining the small tubules in the kidney. These tubules help filter waste from the blood, making urine. Chromophobe RCC accounts for about 5% of all RCC c... | Chromophobe renal cell carcinoma | c1266042 | 5,786 | gard | https://rarediseases.info.nih.gov/diseases/6064/chromophobe-renal-cell-carcinoma | 2021-01-18T18:01:26 | {"mesh": ["D002292"], "umls": ["C1266042"], "synonyms": ["CRCC", "ChRCC"]} |
A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-42 (RP42) is caused by heterozygous mutation in the KLHL7 gene (611119) on chromosome 7p15.
For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Clinical Features
A... | RETINITIS PIGMENTOSA 42 | c0035334 | 5,787 | omim | https://www.omim.org/entry/612943 | 2019-09-22T16:00:13 | {"doid": ["0110386"], "mesh": ["D012174"], "omim": ["612943"], "orphanet": ["791"], "genereviews": ["NBK1417"]} |
Erythema ab igne
Other namesFire stains,[1] laptop thigh, granny's tartan, Koruda erythema, toasted skin syndrome[1]
Erythema ab igne in a person with chronic abdominal pain who found some relief from the application of heat.
SpecialtyDermatology
Erythema ab igne (EAI), also known as hot water bottle rash,... | Erythema ab igne | c0494853 | 5,788 | wikipedia | https://en.wikipedia.org/wiki/Erythema_ab_igne | 2021-01-18T18:53:38 | {"icd-9": ["692.82"], "icd-10": ["L59.0"], "wikidata": ["Q2161683"]} |
A number sign (#) is used with this entry because of evidence that orofacial cleft-11 (OFC11) is caused by heterozygous mutation in the BMP4 gene (112262) on chromosome 14q22.
For a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic cleft lip with or without cleft palate, see OFC1 (... | OROFACIAL CLEFT 11 | c0158646 | 5,789 | omim | https://www.omim.org/entry/600625 | 2019-09-22T16:16:02 | {"doid": ["0080404"], "omim": ["600625"], "orphanet": ["199306"], "synonyms": ["Alternative titles", "CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 11"], "genereviews": ["NBK1378"]} |
A number sign (#) is used with this entry because of evidence that spermatogenic failure-25 (SPGF25) is caused by homozygous or compound heterozygous mutation in the TEX15 gene (605795) on chromosome 8p12.
Description
Spermatogenic failure-25 is characterized by small testes and infertility, with severe oligozoospe... | SPERMATOGENIC FAILURE 25 | c4693765 | 5,790 | omim | https://www.omim.org/entry/617960 | 2019-09-22T15:44:13 | {"omim": ["617960"], "orphanet": ["399805"], "synonyms": []} |
Acromicric dysplasia
Other namesAcromicric skeletal dysplasia [1]
Acromicric dysplasia is an extremely rare inherited disorder characterized by abnormally short hands and feet, growth retardation and delayed bone maturation leading to short stature.[2] Most cases have occurred randomly for no apparent reason (... | Acromicric dysplasia | c0265287 | 5,791 | wikipedia | https://en.wikipedia.org/wiki/Acromicric_dysplasia | 2021-01-18T19:06:29 | {"gard": ["7"], "mesh": ["C535662"], "umls": ["C0265287"], "orphanet": ["969"], "wikidata": ["Q4676182"]} |
Sex chromosome anomalies, also called Sex chromosome anomalies belong to a group of genetic conditions that are caused or affected by the loss, damage or addition of one or both sex chromosomes (also called gonosomes).
In humans this may refer to:
* 45, X, also known as Turner syndrome
* 45,X/46,XY mosaicis... | Sex chromosome anomalies | c0949683 | 5,792 | wikipedia | https://en.wikipedia.org/wiki/Sex_chromosome_anomalies | 2021-01-18T18:44:10 | {"mesh": ["D025064"], "orphanet": ["263749"], "synonyms": [], "wikidata": ["Q7458487"]} |
A number sign (#) is used with this entry because of evidence that maturity-onset diabetes of the young-13 (MODY13) is caused by heterozygous mutation in the KCNJ11 gene (600937) on chromosome 11p15.
For a phenotypic description and a discussion of genetic heterogeneity of MODY, see 606391.
Clinical Features
B... | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13 | c0342276 | 5,793 | omim | https://www.omim.org/entry/616329 | 2019-09-22T15:49:11 | {"doid": ["0111110"], "mesh": ["C562772"], "omim": ["616329"], "orphanet": ["552"], "synonyms": ["Alternative titles", "MODY, TYPE 13"], "genereviews": ["NBK500456"]} |
Levine et al. (1972) found that clinical ragweed pollenosis (hay fever) and IgE antibody production specific for antigen E (the major purified protein antigen from ragweed pollen extract) correlated closely with HLA haplotypes in successive generations of 7 families. The correlation was thought to be based on the exi... | RAGWEED SENSITIVITY | c1867394 | 5,794 | omim | https://www.omim.org/entry/179450 | 2019-09-22T16:35:19 | {"mesh": ["C566725"], "omim": ["179450"]} |
Musical hallucinations (also known as auditory hallucinations, auditory Charles Bonnet Syndrome, and Oliver Sacks' syndrome[1]) describes a neurological disorder in which the patient will hallucinate songs, tunes, instruments and melodies. The source of these hallucinations are derived from underlying psychotic illne... | Musical hallucinations | None | 5,795 | wikipedia | https://en.wikipedia.org/wiki/Musical_hallucinations | 2021-01-18T19:05:18 | {"wikidata": ["Q6942549"]} |
Inverse psoriasis
SpecialtyDermatology
Inverse psoriasis or flexural psoriasis is a form of psoriasis that selectively, and often exclusively, involves the folds, recesses, and flexor surfaces such as the ears, axillae, groin folds, inframammary folds, navel, intergluteal cleft, penis, lips, and webspaces.... | Inverse psoriasis | c0343053 | 5,796 | wikipedia | https://en.wikipedia.org/wiki/Inverse_psoriasis | 2021-01-18T18:31:06 | {"umls": ["C0343053"], "icd-10": ["L40.8"], "wikidata": ["Q6060418"]} |
DOLK-congenital disorder of glycosylation (DOLK-CDG, formerly known as congenital disorder of glycosylation type Im) is an inherited condition that often affects the heart but can also involve other body systems. The pattern and severity of this disorder's signs and symptoms vary among affected individuals.
Indi... | DOLK-congenital disorder of glycosylation | c1835849 | 5,797 | medlineplus | https://medlineplus.gov/genetics/condition/dolk-congenital-disorder-of-glycosylation/ | 2021-01-27T08:25:00 | {"gard": ["10307", "12393"], "mesh": ["C563666"], "omim": ["610768"], "synonyms": []} |
Acute cerebellar ataxia of childhood
SpecialtyPediatrics, neurology
Acute cerebellar ataxia of childhood is a childhood condition characterized by an unsteady gait, most likely secondary to an autoimmune response to infection, drug induced or paraneoplastic.[1] Most common virus causing acute cerebellar ataxia... | Acute cerebellar ataxia of childhood | c0238014 | 5,798 | wikipedia | https://en.wikipedia.org/wiki/Acute_cerebellar_ataxia_of_childhood | 2021-01-18T18:29:31 | {"wikidata": ["Q4677914"]} |
Not to be confused with Spondylosis, Spondylitis, Spondylolysis, or Slipped disk.
Spondylolisthesis
Other namesOlisthesis
X-ray of the lateral lumbar spine with a grade III anterolisthesis at the L5-S1 level.
Pronunciation
* /ˌspɒndɪloʊlɪsˈθiːsɪs/ SPON-dil-oh-lis-THEE-sis
SpecialtyOrthopedics
... | Spondylolisthesis | c0038016 | 5,799 | wikipedia | https://en.wikipedia.org/wiki/Spondylolisthesis | 2021-01-18T18:46:58 | {"mesh": ["D013168"], "umls": ["C0038016"], "icd-9": ["738.4", "756.12"], "wikidata": ["Q973524"]} |
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