text stringlengths 297 230k | title stringlengths 4 145 | cui stringlengths 4 10 | idx int64 0 30.7k | source stringclasses 6
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Abortion in Connecticut is legal. 67% of adults said in a poll by the Pew Research Center that abortion should be legal in all or most cases. Abortions took place early in the state's history. People at that time talked about abortions using euphemisms. The death of Sarah Grosvenor following unsuccessful abortion res... | Abortion in Connecticut | None | 8,100 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_Connecticut | 2021-01-18T18:51:43 | {"wikidata": ["Q64876907"]} |
Diffuse alveolar damage
Micrograph showing hyaline membranes, the key histologic feature of diffuse alveolar damage. H&E stain.
SpecialtyRespirology
Diffuse alveolar damage (DAD) is a histologic term used to describe specific changes that occur to the structure of the lungs during injury or disease. Most... | Diffuse alveolar damage | c1262020 | 8,101 | wikipedia | https://en.wikipedia.org/wiki/Diffuse_alveolar_damage | 2021-01-18T18:56:05 | {"umls": ["C1262020"], "wikidata": ["Q5275407"]} |
Prader-Willi habitus, osteopenia, and camptodactyly syndrome is characterized by intellectual disability, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has only been described in two brothers and in one isolated case in a different family. Other symptoms included unusual face... | Prader-Willi habitus, osteopenia, and camptodactyly | c0796189 | 8,102 | gard | https://rarediseases.info.nih.gov/diseases/5426/prader-willi-habitus-osteopenia-and-camptodactyly | 2021-01-18T17:58:13 | {"mesh": ["C538276"], "omim": ["264010"], "umls": ["C0796189"], "orphanet": ["3409"], "synonyms": ["Urban-Rogers-Meyer syndrome"]} |
Gundrum (1922) described 9 (8 male, 1 female) cases in 3 generations. Most performed catheterization daily on themselves.
GU \- Urinary bladder atony Inheritance \- Autosomal dominant ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic ag... | URINARY BLADDER, ATONY OF | c0403645 | 8,103 | omim | https://www.omim.org/entry/191800 | 2019-09-22T16:32:10 | {"omim": ["191800"], "icd-9": ["596.4"]} |
Simple-type schizophrenia
Other namesSimple schizophrenia, simple deteriorative disorder, schizophrenia simplex, deficit schizophrenia, deficit syndrome
SpecialtyPsychiatry
Simple-type schizophrenia is a sub-type of schizophrenia included in the International Classification of Diseases (ICD-10).[1] It is not... | Simple-type schizophrenia | None | 8,104 | wikipedia | https://en.wikipedia.org/wiki/Simple-type_schizophrenia | 2021-01-18T18:54:46 | {"icd-9": ["295.00", "295.0"], "icd-10": ["F20.6"], "wikidata": ["Q2855814"]} |
L-2-hydroxyglutaric aciduria is an inherited metabolic condition that is associated with progressive brain damage. Signs and symptoms of this condition typically begin during infancy or early childhood and may include developmental delay, seizures, speech difficulties, macrocephaly and abnormalities in a part of ... | L-2-hydroxyglutaric aciduria | c1855995 | 8,105 | gard | https://rarediseases.info.nih.gov/diseases/10472/l-2-hydroxyglutaric-aciduria | 2021-01-18T17:59:33 | {"omim": ["236792"], "orphanet": ["79314"], "synonyms": ["L-2-hydroxyglutaric acidemia"]} |
Oral manifestations of systematic disease are signs and symptoms of disease occurring elsewhere in the body detected in the oral cavity and oral secretions. High blood sugar can be detected by sampling saliva.[1] Saliva sampling may be a non-invasive way to detect changes in the gut microbiome and changes in systemic... | Oral manifestations of systemic disease | c0029166 | 8,106 | wikipedia | https://en.wikipedia.org/wiki/Oral_manifestations_of_systemic_disease | 2021-01-18T19:04:26 | {"mesh": ["D009912"], "wikidata": ["Q30314793"]} |
A number sign (#) is used with this entry because benign familial neonatal-infantile seizures-3 (BFIS3) is caused by heterozygous mutation in the SCN2A gene (182390) on chromosome 2q24.
See also early infantile epileptic encephalopathy-11 (EIEE11; 613721), a more severe disorder that also results from mutations ... | SEIZURES, BENIGN FAMILIAL INFANTILE, 3 | c0220669 | 8,107 | omim | https://www.omim.org/entry/607745 | 2019-09-22T16:08:45 | {"doid": ["0060169"], "mesh": ["D020936"], "omim": ["607745"], "orphanet": ["140927", "306"], "synonyms": ["Alternative titles", "CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3", "SEIZURES, BENIGN FAMILIAL NEONATAL-INFANTILE"]} |
## Description
Catechol-O-methyltransferase (COMT; EC 2.1.1.6) is one of the major mammalian enzymes involved in the metabolic degradation of catecholamines (summary by Gogos et al., 1998). COMT catalyzes the transfer of a methyl group from S-adenosyl-methionine (SAM) to a hydroxyl group on a catechol nucleus (e.g.... | CATECHOL-O-METHYLTRANSFERASE | c1861822 | 8,108 | omim | https://www.omim.org/entry/116790 | 2019-09-22T16:43:36 | {"omim": ["116790"]} |
Acromegaly is a hormonal disorder that results from the pituitary gland producing too much growth hormone (GH). It is most often diagnosed in middle-aged adults, although symptoms can appear at any age. Signs and symptoms include abnormal growth and swelling of the hands and feet; bone changes that; alter various fac... | Acromegaly | c0001206 | 8,109 | gard | https://rarediseases.info.nih.gov/diseases/5725/acromegaly | 2021-01-18T18:02:20 | {"mesh": ["D000172"], "orphanet": ["963"], "synonyms": ["Somatotroph adenoma", "Growth hormone excess", "Pituitary giant"]} |
A number sign (#) is used with this entry because of evidence that DFNB67 is caused by homozygous mutation in the lipoma HMGIC fusion partner-like 5 gene (LHFPL5; 609427) on chromosome 6p21.
Clinical Features
Shabbir et al. (2006) reported 2 large consanguineous Pakistani families segregating autosomal recessive co... | DEAFNESS, AUTOSOMAL RECESSIVE 67 | c1853223 | 8,110 | omim | https://www.omim.org/entry/610265 | 2019-09-22T16:04:45 | {"doid": ["0110518"], "mesh": ["C565207"], "omim": ["610265"], "orphanet": ["90636"], "synonyms": ["Autosomal recessive isolated neurosensory deafness type DFNB", "Autosomal recessive isolated sensorineural deafness type DFNB", "Autosomal recessive non-syndromic neurosensory deafness type DFNB"], "genereviews": ["NBK14... |
Not to be confused with Sjögren's syndrome, an autoimmune disorder which can cause many problems including dry skin.
Sjögren–Larsson syndrome
Other namesSLS
Two brothers (21 and 25 years old) with generalized dryness of skin with fine scales mainly around the umbilicus and in the flexural folds, one of Sjögren–L... | Sjögren–Larsson syndrome | c0037231 | 8,111 | wikipedia | https://en.wikipedia.org/wiki/Sj%C3%B6gren%E2%80%93Larsson_syndrome | 2021-01-18T18:31:52 | {"gard": ["7654"], "mesh": ["D016111"], "umls": ["C0037231"], "icd-9": ["757.1"], "icd-10": ["Q87.1"], "orphanet": ["816"], "wikidata": ["Q2291208"]} |
Lymphedema–distichiasis syndrome
Other namesLymphedema with distichiasis[1]
Lymphedema–distichiasis syndrome is inherited in an autosomal dominant manner
Lymphedema–distichiasis syndrome is a medical condition associated with the FOXC2 gene.[2]:849 People with this hereditary condition have a double row ... | Lymphedema–distichiasis syndrome | c0265345 | 8,112 | wikipedia | https://en.wikipedia.org/wiki/Lymphedema%E2%80%93distichiasis_syndrome | 2021-01-18T18:46:49 | {"gard": ["333"], "mesh": ["C537710"], "umls": ["C0265345"], "orphanet": ["33001"], "wikidata": ["Q3508768"]} |
Ground itch refers to the inflammatory reaction resulting from certain helminthic invasions into the skin.[1]
## Contents
* 1 Presentation
* 2 Cause
* 3 See also
* 4 References
## Presentation[edit]
Effects due to Penetration by larvae [2]
* Maculopapular rash
* Localized erythema
* Intense itc... | Ground itch | c0546999 | 8,113 | wikipedia | https://en.wikipedia.org/wiki/Ground_itch | 2021-01-18T19:08:32 | {"mesh": ["D007815"], "wikidata": ["Q5610941"]} |
State of indifference, or the suppression of emotions
For other uses, see Apathy (disambiguation).
Mental state in terms of challenge level and skill level, according to Csikszentmihalyi's flow model.[1] (Click on a fragment of the image to go to the appropriate article)
Part of a series on
Emotions
... | Apathy | c0085632 | 8,114 | wikipedia | https://en.wikipedia.org/wiki/Apathy | 2021-01-18T19:07:54 | {"mesh": ["D057565"], "umls": ["C0085632"], "wikidata": ["Q309406"]} |
A number sign (#) is used with this entry because of evidence that dilated cardiomyopathy with woolly hair, palmoplantar keratoderma, and tooth agenesis (DCWHKTA) is caused by heterozygous mutation in the desmoplakin gene (DSP; 125647).
Carvajal syndrome (DCWHK; 605676), which has overlapping features but no abn... | CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS | c1854063 | 8,115 | omim | https://www.omim.org/entry/615821 | 2019-09-22T15:50:52 | {"mesh": ["C535581"], "omim": ["615821"], "orphanet": ["65282"]} |
For the orchid genus, see Microtis (plant). For the gastropod genus, see Microtis (gastropod). For the vole genus, see Microtus. For the butterfly genus, see Microtia (butterfly).
Microtia
Unilateral grade III microtia (more often affecting the right ear).
SpecialtyMedical genetics
Microtia is a congenital ... | Microtia | c0152423 | 8,116 | wikipedia | https://en.wikipedia.org/wiki/Microtia | 2021-01-18T18:59:49 | {"mesh": ["D065817"], "umls": ["C0152423"], "icd-9": ["744.23"], "icd-10": ["Q17.2"], "wikidata": ["Q1759560"]} |
A cosmopolitan fungal infection due to Cryptococcus neoformans.
## Epidemiology
Annual incidence has been estimated at between 1/5,000 and 1/50,000 depending on the geographic region. Immunodeficient patients are the main target.
## Clinical description
Primary pulmonary cryptococcosis is usually asymptomatic... | Cryptococcosis | c0010414 | 8,117 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1546 | 2021-01-23T16:55:53 | {"gard": ["6218"], "mesh": ["D003453"], "umls": ["C0010414"], "icd-10": ["B45.0", "B45.1", "B45.2", "B45.3", "B45.7", "B45.8", "B45.9"]} |
Yao syndrome (formerly called NOD2-associated autoinflammatory disease) is a disorder involving episodes of fever and abnormal inflammation affecting many parts of the body, particularly the skin, joints, and gastrointestinal system. Inflammation is a normal immune system response to injury and foreign invaders (such... | Yao syndrome | c4310620 | 8,118 | medlineplus | https://medlineplus.gov/genetics/condition/yao-syndrome/ | 2021-01-27T08:25:21 | {"omim": ["617321"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that autosomal recessive spastic ataxia-8 (SPAX8) with hypomyelinating leukodystrophy is caused by homozygous mutation in the NKX6-2 gene (605955) on chromosome 8q21.
Description
Spastic ataxia-8 with hypomyelinating leukodystrophy is an autosomal recess... | SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY | c4479653 | 8,119 | omim | https://www.omim.org/entry/617560 | 2019-09-22T15:45:36 | {"doid": ["0080252"], "omim": ["617560"], "orphanet": ["527497"], "synonyms": ["Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia", "SPAX8"], "genereviews": ["NBK531509"]} |
Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration.
## Epidemiology
Five... | Gamma-aminobutyric acid transaminase deficiency | c0342708 | 8,120 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2066 | 2021-01-23T19:04:18 | {"gard": ["194"], "mesh": ["C535407"], "omim": ["613163"], "umls": ["C0342708"], "icd-10": ["E72.8"], "synonyms": ["GABA transaminase deficiency"]} |
A severe form of phenylketonuria (PKU) due to phenylalanine hydroxylase deficiency, an inborn error of amino acid metabolism, characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.
## Epidemiology
Exact prevalence is not known but is estimated to be about 1/15,000 bir... | Classic phenylketonuria | c0751434 | 8,121 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79254 | 2021-01-23T17:36:01 | {"mesh": ["D010661"], "umls": ["C0751434"], "icd-10": ["E70.0"], "synonyms": ["Classic PKU"]} |
Linear focal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by asymptomatic, palpable, hypertrophic or atrophic, yellowish or red, indurated, horizontal, striae-like linear plaques distributed symmetrically across the mid and lower back. No systemic involvement has been described. Skin bi... | Linear focal elastosis | None | 8,122 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=228236 | 2021-01-23T18:51:29 | {"synonyms": ["Elastotic striae", "Linear focal dermal elastosis"]} |
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: "Hereditary inclusion body myopathy" – news · newspapers · books · scholar · JSTOR (September 2009) (Learn how and when ... | Hereditary inclusion body myopathy | c1853926 | 8,123 | wikipedia | https://en.wikipedia.org/wiki/Hereditary_inclusion_body_myopathy | 2021-01-18T18:37:33 | {"mesh": ["C536816"], "wikidata": ["Q5737853"]} |
A number sign (#) is used with this entry because this form of congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A6; MDDGA6), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), is caused by homozygous or compound heterozygous mutation in the LA... | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 | c0265221 | 8,124 | omim | https://www.omim.org/entry/613154 | 2019-09-22T15:59:25 | {"doid": ["0111242"], "mesh": ["D058494"], "omim": ["613154"], "orphanet": ["899", "588"], "synonyms": ["Alternative titles", "WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, LARGE-RELATED"]} |
Combined oxidative phosphorylation defect type 20 is a rare mitochondrial oxidative phosphorylation disorder characterized by variable combination of psychomotor delay, hypotonia, muscle weakness, seizures, microcephaly, cardiomyopathy and mild dysmorphic facial features. Variable types of structural brain anomalies ... | Combined oxidative phosphorylation defect type 20 | c4014660 | 8,125 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=420728 | 2021-01-23T17:16:35 | {"omim": ["615917"], "icd-10": ["E88.8"], "synonyms": ["COXPD20"]} |
Congenital estrogen deficiency
Other namesAromatase deficiency
Congenital estrogen deficiency is inherited in an autosomal recessive manner.
Congenital estrogen deficiency is a congenital form of hypoestrogenism in which the body is unable to produce or use estrogens.[1] Such conditions include:
* Aromata... | Congenital estrogen deficiency | None | 8,126 | wikipedia | https://en.wikipedia.org/wiki/Congenital_estrogen_deficiency | 2021-01-18T18:55:02 | {"wikidata": ["Q5160428"]} |
Maize lethal necrosis disease (MLN disease, MLND, corn lethal necrosis) is a viral disease affecting maize (corn) predominantly in East Africa, Southeast Asia and South America, which was recognised in 2010. It is caused by simultaneous infection with two viruses, maize chlorotic mottle virus (MCMoV) of the Tombu... | Maize lethal necrosis disease | None | 8,127 | wikipedia | https://en.wikipedia.org/wiki/Maize_lethal_necrosis_disease | 2021-01-18T18:53:21 | {"wikidata": ["Q18414907"]} |
Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.
## Epidemiology
The prevalence of familial thrombocytosis is not known.
## ... | Familial thrombocytosis | c3277671 | 8,128 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=71493 | 2021-01-23T18:39:29 | {"omim": ["187950", "300331", "601977", "614521"], "icd-10": ["D75.2"], "synonyms": ["Familial thrombocythemia", "Hereditary thrombocythemia"]} |
Lid lag is the static situation in which the upper eyelid is higher than normal with the globe in downgaze.[1] It is most often a sign of thyroid eye disease, but may also occur with cicatricial changes to the eyelid or congenital ptosis. Lid lag differs from Von Graefe's sign in that the latter is a dynamic process... | Lid lag | c0234664 | 8,129 | wikipedia | https://en.wikipedia.org/wiki/Lid_lag | 2021-01-18T19:07:18 | {"umls": ["C0234664"], "wikidata": ["Q25098595"]} |
A number sign (#) is used with this entry because of evidence that autosomal dominant nonsyndromic sensorineural deafness-12 (DFNA12), which has also been designated DFNA8, is caused by mutation in the gene encoding alpha-tectorin (TECTA; 602574) on chromosome 11q23.
Autosomal recessive deafness-21 (DFNB21; 6036... | DEAFNESS, AUTOSOMAL DOMINANT 12 | c1832187 | 8,130 | omim | https://www.omim.org/entry/601543 | 2019-09-22T16:14:38 | {"doid": ["0110544"], "mesh": ["C563295"], "omim": ["601543"], "orphanet": ["90635"], "synonyms": ["Autosomal dominant non-syndromic sensorineural hearing loss type DFNA", "Autosomal dominant isolated sensorineural hearing loss type DFNA", "DEAFNESS, AUTOSOMAL DOMINANT 8", "Autosomal dominant non-syndromic neurosensory... |
A number sign (#) is used with this entry because of evidence that susceptibility to autism-19 (AUTS19) is conferred by variation in the EIF4E gene (133440) on chromosome 4q23.
For a phenotypic description and a discussion of genetic heterogeneity of autism, see 209850.
Cytogenetics
Neves-Pereira et al. (2009) ide... | AUTISM, SUSCEPTIBILITY TO, 19 | c3554495 | 8,131 | omim | https://www.omim.org/entry/615091 | 2019-09-22T15:53:13 | {"omim": ["615091"]} |
This article needs to be updated. Please update this article to reflect recent events or newly available information. (April 2017)
Follicle-stimulating hormone insensitivity
Other namesOvarian insensitivity to FSH, Granulosa cell hypoplasia
Follicle-stimulating hormone (FSH) insensitivity, or ovarian inse... | Follicle-stimulating hormone insensitivity | None | 8,132 | wikipedia | https://en.wikipedia.org/wiki/Follicle-stimulating_hormone_insensitivity | 2021-01-18T18:38:49 | {"gard": ["4179"], "wikidata": ["Q5464647"]} |
Autosomal recessive congenital methemoglobinemia is an inherited condition that mainly affects the function of red blood cells. Specifically, it alters a molecule within these cells called hemoglobin. Hemoglobin carries oxygen to cells and tissues throughout the body. In people with autosomal recessive congenital... | Autosomal recessive congenital methemoglobinemia | c0268193 | 8,133 | medlineplus | https://medlineplus.gov/genetics/condition/autosomal-recessive-congenital-methemoglobinemia/ | 2021-01-27T08:25:28 | {"mesh": ["C537841"], "omim": ["250800"], "synonyms": []} |
Multicentric Castleman disease (MCD) is a rare disease that affects the lymph nodes and related tissues. It is a form of Castleman disease that is "systemic" and involves multiple regions of lymph nodes (as opposed to unicentric Castleman disease, which involves a single lymph node or single region of lymph nodes). T... | Multicentric Castleman Disease | c1334815 | 8,134 | gard | https://rarediseases.info.nih.gov/diseases/9644/multicentric-castleman-disease | 2021-01-18T17:58:56 | {"mesh": ["C537372"], "orphanet": ["93686"], "synonyms": ["MCD", "Plasmablastic multicentric Castleman disease", "PMCD", "Multicentric plasma cell variant of Castleman's disease", "Idiopathic multicentric Castleman's disease", "Multicentric giant lymph node hyperplasia"]} |
Tulip fingers are a cutaneous condition, a combined allergic and irritant contact dermatitis caused by contact with tulip bulbs.[1]
## See also[edit]
* Textile dermatitis
* List of cutaneous conditions
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-V... | Tulip fingers | None | 8,135 | wikipedia | https://en.wikipedia.org/wiki/Tulip_fingers | 2021-01-18T19:05:13 | {"wikidata": ["Q7852078"]} |
Streptococcal toxic-shock syndrome (streptococcal TSS) is an acute disease mediated by the production of superantigenic toxins characterized by the sudden onset of fever and other febrile symptoms, pain, multisystem organ involvement and potentially leading to coma, shock and death due to a Streptococcus pyogenes... | Streptococcal toxic-shock syndrome | c0343532 | 8,136 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99918 | 2021-01-23T16:52:42 | {"umls": ["C0343532"], "icd-10": ["A48.3"], "synonyms": ["Streptococcal TSS"]} |
Skin condition characterized by small bumps caused by overproduction of keratin.
Keratosis pilaris
Other namesFollicular keratosis, lichen pilaris
Condition on a calf
SpecialtyDermatology
Keratosis pilaris (KP) (also follicular keratosis, lichen pilaris, or colloquially chicken skin[1]) is a common, autos... | Keratosis pilaris | c0263383 | 8,137 | wikipedia | https://en.wikipedia.org/wiki/Keratosis_pilaris | 2021-01-18T18:35:46 | {"mesh": ["C537412"], "umls": ["C0263383"], "icd-9": ["757.39"], "wikidata": ["Q1637035"]} |
## Clinical Features
Platelets of humans, as well as of other primates and some cats, aggregate in response to adrenaline. Scrutton et al. (1981) observed decreased responsiveness to adrenaline in platelets from 5 apparently normal, unrelated human subjects. In 4 of these, the trait was shown to be inherited (w... | PLATELET RESPONSIVENESS TO ADRENALINE, DEPRESSED | c1868200 | 8,138 | omim | https://www.omim.org/entry/173580 | 2019-09-22T16:36:08 | {"omim": ["173580"]} |
A number sign (#) is used with this entry because of evidence that early infantile epileptic encephalopathy-71 (EIEE71) is caused by homozygous or compound heterozygous mutation in the glutaminase gene (GLS; 138280) on chromosome 2q32.
For a general phenotypic description and a discussion of genetic heterogeneity of... | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 71 | None | 8,139 | omim | https://www.omim.org/entry/618328 | 2019-09-22T15:42:29 | {"omim": ["618328"], "synonyms": ["Alternative titles", "GLUTAMINASE DEFICIENCY WITH NEONATAL EPILEPTIC ENCEPHALOPATHY"]} |
A rare cerebellar malformation characterized by congenital complete or partial fusion of the cerebellar hemispheres, dentate nuclei, and middle cerebellar peduncles, and complete or partial absence of the vermis. It may occur as an isolated anomaly or together with other malformations of the brain and is associated w... | Rhombencephalosynapsis | c1866130 | 8,140 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=59315 | 2021-01-23T17:11:41 | {"umls": ["C1866130"], "icd-10": ["Q04.3"]} |
A number sign (#) is used with this entry because the phenotype results from mutation in the MTRNR2 gene (561010).
A dose-related toxic effect of chloramphenicol occurs presumably in all persons who take enough. In about 1 in every 19,000 persons taking the drug, an idiosyncratic reaction occurs. Human cells resista... | CHLORAMPHENICOL TOXICITY | c1838989 | 8,141 | omim | https://www.omim.org/entry/515000 | 2019-09-22T16:16:50 | {"omim": ["515000"], "synonyms": ["Alternative titles", "ANEMIA, CHLORAMPHENICOL-INDUCED"]} |
For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500).
Clinical Features
Went et al. (1975) described a kindred in which 8 males in 7 sibships of 3 generations (connected through females) had optic atrophy with early childhood onset and slow progression. Volker-Dieben et al. (1974) documente... | OPTIC ATROPHY 2 | c1839576 | 8,142 | omim | https://www.omim.org/entry/311050 | 2019-09-22T16:17:30 | {"doid": ["5723"], "mesh": ["C537125"], "omim": ["311050"], "orphanet": ["98890"], "synonyms": ["Alternative titles", "OPTIC ATROPHY, X-LINKED", "OPTIC ATROPHY, NON-LEBER TYPE, WITH EARLY ONSET"]} |
Pseudopolyps
Colonic pseudopolyps of a patient with intractable ulcerative colitis. Colectomy specimen.
SpecialtyGastroenterology, Pathology
ComplicationsBowel obstruction
Differential diagnosisFamilial adenomatous polyposis
Pseudopolyps are projecting masses of scar tissue that develop from granulation ... | Pseudopolyps | c0032568 | 8,143 | wikipedia | https://en.wikipedia.org/wiki/Pseudopolyps | 2021-01-18T18:33:14 | {"umls": ["C0032568"], "wikidata": ["Q1488684"]} |
## Clinical Features
In 2 Norwegian kindreds, Aagenaes et al. (1968, 1970) described a syndrome of hereditary recurrent cholestasis and lymphedema. Jaundice became evident soon after birth and recurred in episodes throughout life. Edema in the legs, which was due to hypoplasia of the lymphatic vessels, began at abo... | CHOLESTASIS-LYMPHEDEMA SYNDROME | c0268314 | 8,144 | omim | https://www.omim.org/entry/214900 | 2019-09-22T16:29:45 | {"doid": ["6691"], "mesh": ["C535330"], "omim": ["214900"], "orphanet": ["1414"], "synonyms": ["Alternative titles", "CHLS", "AAGENAES SYNDROME", "LYMPHEDEMA-CHOLESTASIS SYNDROME"]} |
"Skin Cancer" redirects here. For the book by Robert A. Schwartz, see Skin Cancer: Recognition and Management.
Skin cancer
A basal-cell skin cancer. Note the pearly appearance and telangiectasia.
SpecialtyOncology and dermatology
SymptomsBasal-cell: painless raised area of skin that may be shiny with small blo... | Skin cancer | c0007114 | 8,145 | wikipedia | https://en.wikipedia.org/wiki/Skin_cancer | 2021-01-18T18:53:49 | {"gard": ["10421"], "mesh": ["D012878"], "umls": ["C0007114"], "icd-9": ["172", "173"], "icd-10": ["C44", "C43"], "wikidata": ["Q192102"]} |
Hooft et al. (1962), of Ghent, Belgium, described a family in which 2 sisters had retarded physical development, erythematosquamous eruption, opaque leukonychia, mental retardation, and low serum lipids. One had tapetoretinal degeneration. Acanthocytosis and disturbance of intestinal absorption were not present; see ... | HOOFT DISEASE | c0268479 | 8,146 | omim | https://www.omim.org/entry/236300 | 2019-09-22T16:27:04 | {"mesh": ["C535329"], "omim": ["236300"]} |
"GERD" redirects here. For other uses, see Gerd.
Gastroesophageal reflux disease
Other namesBritish: Gastro-oesophageal reflux disease (GORD);[1] gastric reflux disease, acid reflux disease, reflux, gastroesophageal reflux
X-ray showing radiocontrast from the stomach (white material below diaphragm) entering the... | Gastroesophageal reflux disease | c0017168 | 8,147 | wikipedia | https://en.wikipedia.org/wiki/Gastroesophageal_reflux_disease | 2021-01-18T18:45:43 | {"mesh": ["D005764"], "umls": ["C0017168"], "wikidata": ["Q223591"]} |
A number sign (#) is used with this entry because of evidence that brain small vessel disease-1 with or without ocular anomalies (BSVD1) is caused by heterozygous mutation in the COL4A1 gene (120130) on chromosome 13q34.
Description
Brain small vessel disease-1 is an autosomal dominant disorder with variable manife... | BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES | c1867983 | 8,148 | omim | https://www.omim.org/entry/175780 | 2019-09-22T16:35:56 | {"doid": ["0090125"], "mesh": ["D065708"], "omim": ["175780"], "orphanet": ["99810", "2940", "36383"], "synonyms": ["Alternative titles", "HEMIPLEGIA, INFANTILE, WITH PORENCEPHALY", "BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE", "RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND LEUKOENCEPHALOPATHY, AUTOSOMAL DO... |
A rare, genetic motor neuron disease characterized by late childhood- or adolescent-onset of slowly progressive, severe, distal limb muscle weakness and wasting, in association with pyramidal signs, normal sensation, and absence of bulbar involvement, leading to degeneration of motor neurons in the brain and spinal c... | Amyotrophic lateral sclerosis type 4 | c1865409 | 8,149 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=357043 | 2021-01-23T18:41:28 | {"gard": ["10502"], "mesh": ["C566550"], "omim": ["602433"], "umls": ["C1865409"], "icd-10": ["G12.2"], "synonyms": ["ALS4", "Distal hereditary motor neuropathy with upper motor neuron signs", "dHMN with upper motor neuron signs"]} |
Glomus vagale tumor is a type of paraganglioma, which is a tumor that develops in the paraganglia (a group of cells that are found near nerve cell bunches called ganglia). Glomus vagale tumors, specifically, grow in the paraganglia located near the vagus nerve, an important cranial nerve which serves many functions i... | Glomus vagale tumor | c0474819 | 8,150 | gard | https://rarediseases.info.nih.gov/diseases/8620/glomus-vagale-tumor | 2021-01-18T18:00:18 | {"synonyms": ["Vagal paraganglioma"]} |
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Find sources: "Catel–Manzke syndrome" – news · newspapers · books · scholar · JSTOR (May 2008) (Learn how and when to remove this temp... | Catel–Manzke syndrome | c1844887 | 8,151 | wikipedia | https://en.wikipedia.org/wiki/Catel%E2%80%93Manzke_syndrome | 2021-01-18T18:53:32 | {"gard": ["28"], "mesh": ["C535347"], "umls": ["C1844887"], "orphanet": ["1388"], "wikidata": ["Q5051865"]} |
Teunissen–Cremers syndrome
Other namesStapes ankylosis with broad thumbs and toes
SpecialtyOrthopedic
Teunissen–Cremers syndrome is a genetic disorder that presents with skeleton defects some of which can include the bones of the inner ear, fingers and toes.[1] This can result in conductive hearing loss ... | Teunissen–Cremers syndrome | c1866656 | 8,152 | wikipedia | https://en.wikipedia.org/wiki/Teunissen%E2%80%93Cremers_syndrome | 2021-01-18T18:51:30 | {"mesh": ["C536943"], "umls": ["C1866656"], "orphanet": ["140917"], "wikidata": ["Q7707070"]} |
Biotinidase deficiency
Other namesBTD
Biocytin, one of the in vivo subtrates of biotinidase.
SpecialtyEndocrinology
Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from proteins in the diet during digestion or from normal protein turnover in the cell.... | Biotinidase deficiency | c1854698 | 8,153 | wikipedia | https://en.wikipedia.org/wiki/Biotinidase_deficiency | 2021-01-18T18:51:56 | {"gard": ["894"], "mesh": ["C565365", "D028921"], "umls": ["C1854698"], "icd-9": ["277.6"], "orphanet": ["79241"], "wikidata": ["Q776026"]} |
Pyometra
Other namesPyometritis
A canine pyometric uterus immediately after surgery to remove it. It is extremely distended with purulent material.
SpecialtyObstetrics, gynecology
Pyometra or pyometritis is a uterine infection. Though it is most commonly known as a disease of the unaltered female dog, it i... | Pyometra | c0034215 | 8,154 | wikipedia | https://en.wikipedia.org/wiki/Pyometra | 2021-01-18T19:07:26 | {"mesh": ["D055112"], "umls": ["C0034215"], "icd-9": ["615"], "icd-10": ["N71"], "wikidata": ["Q1147908"]} |
Isotretinoin embryopathy is an association of malformations caused by the teratogenic effect of isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk ... | Isotretinoin syndrome | c0432364 | 8,155 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2305 | 2021-01-23T17:17:18 | {"mesh": ["C535542"], "umls": ["C0432364", "C2930972"], "icd-10": ["Q86.8"], "synonyms": ["Isotretinoin embryopathy", "Retinoic acid embryopathy", "Retinoids embryopathy"]} |
Volkmann's contracture
Other namesVolkmann's ischaemic contracture
SpecialtyOrthopaedics
Volkmann's contracture is a permanent flexion contracture of the hand at the wrist, resulting in a claw-like deformity of the hand and fingers. Passive extension of fingers is restricted and painful.[1]
## Contents
*... | Volkmann's contracture | c0042951 | 8,156 | wikipedia | https://en.wikipedia.org/wiki/Volkmann%27s_contracture | 2021-01-18T19:02:59 | {"mesh": ["D054061"], "umls": ["C0042951"], "wikidata": ["Q1968751"]} |
Granuloma gluteale infantum
SpecialtyDermatology
Granuloma gluteale infantum is a cutaneous condition that appears in the anogenital region of infants as a complication of diaper dermatitis.[1]
According to some, no granulomas are found.[2]
## See also[edit]
* Superficial granulomatous pyoderma
* Li... | Granuloma gluteale infantum | c0343871 | 8,157 | wikipedia | https://en.wikipedia.org/wiki/Granuloma_gluteale_infantum | 2021-01-18T18:30:12 | {"umls": ["C0343871"], "wikidata": ["Q5596828"]} |
A number sign (#) is used with this entry because of evidence that hereditary neutrophilia is caused by heterozygous mutation in the CSF3R gene (138971) on chromosome 1p34. One such family has been reported.
Clinical Features
Herring et al. (1974) described an apparently autosomal dominant form of lifelong, per... | NEUTROPHILIA, HEREDITARY | c0543669 | 8,158 | omim | https://www.omim.org/entry/162830 | 2019-09-22T16:37:24 | {"doid": ["0090120"], "mesh": ["C563010"], "omim": ["162830"], "orphanet": ["279943"]} |
Blue rubber bleb nevus syndrome is a condition in which the blood vessels do not develop properly in an area of the skin or other body organ (particularly the intestines). The malformed blood vessels appear as a spot or lesion called a nevus. The underlying blood vessel malformations are present from birth even thoug... | Blue rubber bleb nevus syndrome | c0346072 | 8,159 | gard | https://rarediseases.info.nih.gov/diseases/5940/blue-rubber-bleb-nevus-syndrome | 2021-01-18T18:01:46 | {"mesh": ["C536240"], "omim": ["112200"], "umls": ["C0346072"], "orphanet": ["1059"], "synonyms": ["Bean syndrome", "Blue rubber bleb nevus", "BRBNS"]} |
Spotted fever
SpecialtyInfectious disease
A spotted fever is a type of tick-borne disease which presents on the skin.[1] They are all caused by bacteria of the genus Rickettsia. Typhus is a group of similar diseases also caused by Rickettsia bacteria, but spotted fevers and typhus are different clinical entiti... | Spotted fever | c0038041 | 8,160 | wikipedia | https://en.wikipedia.org/wiki/Spotted_fever | 2021-01-18T18:49:17 | {"gard": ["4998"], "mesh": ["D000073605"], "umls": ["C0038041"], "orphanet": ["102022"], "wikidata": ["Q9274700"]} |
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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. ... | Musculoskeletal causes of back pain | None | 8,161 | wikipedia | https://en.wikipedia.org/wiki/Musculoskeletal_causes_of_back_pain | 2021-01-18T18:54:16 | {"wikidata": ["Q17147935"]} |
Glossopharyngeal neuralgia is a disorder that is associated with repeated episodes of severe pain in the tongue, throat, ear, and tonsils. These areas are all connected to the ninth cranial nerve, also called the glossopharyngeal nerve. Episodes of pain may last from a few seconds to a few minutes and usually occ... | Glossopharyngeal neuralgia | c0154731 | 8,162 | gard | https://rarediseases.info.nih.gov/diseases/6519/glossopharyngeal-neuralgia | 2021-01-18T18:00:18 | {"mesh": ["D020435"], "umls": ["C0154731"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that Joubert syndrome-13 (JBTS13) is caused by homozygous or compound heterozygous mutation in the TCTN1 gene (609863) on chromosome 12q24.
For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300.
Clinical F... | JOUBERT SYNDROME 13 | c3280031 | 8,163 | omim | https://www.omim.org/entry/614173 | 2019-09-22T15:56:15 | {"doid": ["0110982"], "omim": ["614173", "213300"], "orphanet": ["475"], "synonyms": ["CPD IV", "Cerebelloparenchymal disorder IV", "Classic Joubert syndrome", "Joubert syndrome type A", "Joubert-Boltshauser syndrome", "Pure Joubert syndrome"], "genereviews": ["NBK1325"]} |
Burke et al. (1988) described a male infant and his 2 sisters who died in the neonatal period with congenital adrenal hypoplasia of the 'miniature adult' type, in which the fetal cortex is nearly absent and the miniature adrenal cortex consists almost exclusively of permanent cortex. The glomerulosa and fasciculata a... | ADRENAL HYPOPLASIA, CONGENITAL, WITH ABSENT PITUITARY LUTEINIZING HORMONE | c1859978 | 8,164 | omim | https://www.omim.org/entry/202150 | 2019-09-22T16:31:25 | {"mesh": ["C565976"], "omim": ["202150"], "orphanet": ["95700"]} |
IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease (see this term) characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lympho... | IgG4-related dacryoadenitis and sialadenitis | c0026103 | 8,165 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79078 | 2021-01-23T18:09:48 | {"gard": ["7043"], "mesh": ["D008882"], "umls": ["C0026103"], "icd-10": ["K11.8"], "synonyms": ["Chronic dacryoadenitis and sialadenitis", "Mikulicz disease"]} |
A number sign (#) is used with this entry because of evidence that Danon disease, also known as X-linked vacuolar cardiomyopathy and myopathy, is caused by mutation in the gene encoding lysosome-associated membrane protein-2 (LAMP2; 309060).
Description
Danon disease is an X-linked dominant disorder predominantly a... | DANON DISEASE | c0878677 | 8,166 | omim | https://www.omim.org/entry/300257 | 2019-09-22T16:20:37 | {"doid": ["0050437"], "mesh": ["D052120"], "omim": ["300257"], "orphanet": ["34587"], "synonyms": ["Alternative titles", "VACUOLAR CARDIOMYOPATHY AND MYOPATHY, X-LINKED", "PSEUDOGLYCOGENOSIS II", "ANTOPOL DISEASE", "LYSOSOMAL GLYCOGEN STORAGE DISEASE WITHOUT ACID MALTASE DEFICIENCY, FORMERLY", "GLYCOGEN STORAGE DISEASE... |
Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.
## Epidemiology
The estimated prevalence of MDS in Europe is 1/500,000.
## Clinical description
Disease onset usually occurs in the first or second decade of life. ... | Myoclonus-dystonia syndrome | c1834570 | 8,167 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=36899 | 2021-01-23T17:57:59 | {"gard": ["7139"], "mesh": ["C536096"], "omim": ["159900", "616398"], "umls": ["C1834570"], "icd-10": ["G24.1"], "synonyms": ["Alcohol-responsive dystonia", "Hereditary essential myoclonus", "Myoclonic dystonia"]} |
## Clinical Features
Fryns et al. (1988) described an apparently new form of mesomelia in father and daughter. Other than hypoplasia of the ulna with severe radial bowing, there were no other abnormalities in the skeleton; specifically, the tibiae and fibulae were completely normal. The father was 179 cm tall, with... | ULNAR HYPOPLASIA | c1860614 | 8,168 | omim | https://www.omim.org/entry/191440 | 2019-09-22T16:32:14 | {"mesh": ["C538069"], "omim": ["191440"], "orphanet": ["2497"], "synonyms": ["Alternative titles", "UPPER LIMB MESOMELIC DYSPLASIA"]} |
The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy.
## Epidemiology
Prevalence of this group of corneal dystrophies is unknown, but all are ... | Stromal corneal dystrophy | c0038457 | 8,169 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98626 | 2021-01-23T16:56:03 | {"mesh": ["D003317"], "umls": ["C0038457"], "icd-10": ["H18.5"]} |
X-linked intellectual disability, Siderius type is characterised by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the sy... | X-linked intellectual disability, Siderius type | c1846055 | 8,170 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85287 | 2021-01-23T19:11:28 | {"gard": ["9704"], "mesh": ["C537333"], "omim": ["300263"], "umls": ["C1846055"], "icd-10": ["Q87.8"]} |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia, thin lips, hypoplastic maxilla), marfanoid habitus with arachnodactyly, and moderate to severe intellectual disabil... | Arachnodactyly-intellectual disability-dysmorphism syndrome | None | 8,171 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1130 | 2021-01-23T18:58:08 | {"gard": ["1858", "764"], "icd-10": ["Q87.8"], "synonyms": ["De Die-Smulders-Vles-Fryns syndrome"]} |
Mental disorder characterized by recurring, multiple, and current, clinically significant complaints about somatic symptoms
Somatization disorder
Other namesBriquet's syndrome
Play media
SpecialtyPsychiatry, clinical psychology
SymptomsVariable physical symptoms that can include headaches,generalized p... | Somatization disorder | c0520482 | 8,172 | wikipedia | https://en.wikipedia.org/wiki/Somatization_disorder | 2021-01-18T19:01:05 | {"mesh": ["D013001"], "umls": ["C0520482"], "icd-9": ["300.8"], "icd-10": ["F45.0"], "wikidata": ["Q1374020"]} |
A number sign (#) is used with this entry because hereditary coproporphyria (HCP) is caused by heterozygous mutation in the CPOX gene (612732) on chromosome 3q12. Harderoporphyria is a distinctive subtype of HCP, caused by homozygous or compound heterozygous mutation in the CPOX gene.
Description
Hereditary cop... | COPROPORPHYRIA, HEREDITARY | c0162531 | 8,173 | omim | https://www.omim.org/entry/121300 | 2019-09-22T16:42:55 | {"doid": ["13269"], "mesh": ["D046349"], "omim": ["121300"], "icd-10": ["E80.29"], "orphanet": ["79273"], "synonyms": ["Alternative titles", "COPROPORPHYRINOGEN OXIDASE DEFICIENCY", "CPOX DEFICIENCY", "CPO DEFICIENCY", "CPX DEFICIENCY"], "genereviews": ["NBK114807"]} |
Sotos syndrome
Other namesCerebral gigantism or Sotos-Dodge syndrome
Sotos syndrome is an autosomal dominant inherited condition
SpecialtyMedical genetics
Sotos syndrome is a rare genetic disorder characterized by excessive physical growth during the first years of life. Excessive growth often starts in in... | Sotos syndrome | c0175695 | 8,174 | wikipedia | https://en.wikipedia.org/wiki/Sotos_syndrome | 2021-01-18T18:48:08 | {"gard": ["10091"], "mesh": ["D058495"], "umls": ["CN035106"], "icd-9": ["759.89"], "orphanet": ["821"], "wikidata": ["Q1770836"]} |
## Clinical Features
Mahjneh et al. (2003) reported a large Finnish family in which 7 individuals spanning 4 generations developed slowly progressive adult-onset distal myopathy. Age at onset ranged from 32 to 45 years with clumsiness in the hands and/or feet. Later features included steppage gait due to marked... | MYOPATHY, DISTAL, 3 | c1864706 | 8,175 | omim | https://www.omim.org/entry/610099 | 2019-09-22T16:05:11 | {"doid": ["0111189"], "mesh": ["C566445"], "omim": ["610099"], "orphanet": ["399086"]} |
A rare genetic, multiple congenital anomalies syndrome characterized by short stature, hand brachydactyly with hypoplastic distal phalanges, global development delay, intellectual disability, and more variably seizures, obesity, and craniofacial dysmorphism that includes microcephaly, high forehead, flat face, hypert... | Short stature-brachydactyly-obesity-global developmental delay syndrome | c4310689 | 8,176 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=464288 | 2021-01-23T17:31:43 | {"omim": ["617157"], "synonyms": ["SBIDDS"]} |
A rare genetic primary lymphedema characterized by unilateral or bilateral lower limb lymphedema of variable severity. The condition shows almost complete penetrance with onset in childhood or adolescence in females, whereas in males it shows incomplete penetrance with later onset of disease. Lymphoscintigraphy in mo... | CELSR1-related late-onset primary lymphedema | None | 8,177 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=569816 | 2021-01-23T18:26:50 | {} |
A rare idiopathic interstitial pneumonia characterized by prominent subpleural and parenchymal fibroelastosis and pleural fibrosis, predominantly involving the upper lobes. Signs and symptoms include non-productive cough, dyspnea, and recurrent respiratory infections. Pneumothorax is a frequently reported complicatio... | Idiopathic pleuroparenchymal fibroelastosis | None | 8,178 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=494428 | 2021-01-23T18:15:43 | {"synonyms": ["IPPFE", "Idiopathic pleuropulmonary fibroelastosis"]} |
A number sign (#) is used with this entry because of evidence that cytosolic phosphoenolpyruvate carboxykinase deficiency (PCKDC) is caused by homozygous mutation in the PCK1 gene (614168) on chromosome 20q13.
Description
Cytosolic phosphoenolpyruvate carboxykinase deficiency causes a defect in gluconeogenesis that... | PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC | c0268194 | 8,179 | omim | https://www.omim.org/entry/261680 | 2019-09-22T16:23:28 | {"mesh": ["C536654"], "omim": ["261680"], "icd-10": ["E74.4"], "orphanet": ["2880"], "synonyms": ["Alternative titles", "PCK1 DEFICIENCY, CYTOSOLIC", "PEPCK DEFICIENCY, CYTOSOLIC"]} |
A number sign (#) is used with this entry because of evidence of an association between inflammatory bowel disease (IBD14) and variation in the interferon regulatory factor-5 gene (IRF5; 607218) on chromosome 7q32.
For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease, inc... | INFLAMMATORY BOWEL DISEASE 14 | c2677100 | 8,180 | omim | https://www.omim.org/entry/612245 | 2019-09-22T16:02:03 | {"mesh": ["C567383"], "omim": ["612245"]} |
Pearson marrow-pancreas syndrome is a severe disorder that usually begins in infancy. It causes problems with the development of blood-forming (hematopoietic) cells in the bone marrow that have the potential to develop into different types of blood cells. For this reason, Pearson marrow-pancreas syndrome is considere... | Pearson marrow-pancreas syndrome | c0342784 | 8,181 | medlineplus | https://medlineplus.gov/genetics/condition/pearson-marrow-pancreas-syndrome/ | 2021-01-27T08:24:51 | {"gard": ["7343"], "omim": ["557000"], "synonyms": []} |
Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle ... | Charcot-Marie-Tooth disease type 4C | c1866636 | 8,182 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99949 | 2021-01-23T18:07:31 | {"gard": ["9201"], "mesh": ["C535423"], "omim": ["601596"], "umls": ["C1866636"], "icd-10": ["G60.0"], "synonyms": ["CMT4C"]} |
Macrocephaly-capillary malformation
Other namesMacrocephaly-cutis marmorata telangiectatica congenita syndrome, Megalencephaly-cutis marmorata telangiectatica congenita syndrome
A newborn child with M-CM syndrome. A port-wine stain is visible under the nose. On the right side of a cheek, capillary malformations a... | Macrocephaly-capillary malformation | c1865285 | 8,183 | wikipedia | https://en.wikipedia.org/wiki/Macrocephaly-capillary_malformation | 2021-01-18T18:50:18 | {"gard": ["6950"], "mesh": ["C536142"], "umls": ["C1865285"], "orphanet": ["60040"], "wikidata": ["Q17162578"]} |
A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle weakness and atrophy in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) associated with focal segmental glome... | Autosomal dominant intermediate Charcot-Marie-Tooth disease type E | c3280845 | 8,184 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93114 | 2021-01-23T18:12:35 | {"gard": ["12011"], "omim": ["614455"], "icd-10": ["G60.0"], "synonyms": ["CMTDIE", "Charcot-Marie-Tooth disease-nephropathy syndrome"]} |
A number sign (#) is used with this entry because of evidence that familial paragangliomas-1 (PGL1) is caused by heterozygous mutation in the SDHD gene (602690), which encodes the small subunit of cytochrome B in succinate-ubiquinone oxidoreductase, on chromosome 11q23.
Description
Paragangliomas, also referred to ... | PARAGANGLIOMAS 1 | c0030421 | 8,185 | omim | https://www.omim.org/entry/168000 | 2019-09-22T16:36:39 | {"doid": ["0050773"], "mesh": ["D010235"], "omim": ["168000"], "orphanet": ["29072"], "synonyms": ["PARAGANGLIOMAS, FAMILIAL NONCHROMAFFIN, 1", "GLOMUS TUMORS, FAMILIAL, 1", "GLOMUS JUGULARE TUMORS", "Familial pheochromocytoma-paraganglioma", "CAROTID BODY TUMORS", "PARAGANGLIOMATA", "CHEMODECTOMAS", "PARAGANGLIOMAS, F... |
## Summary
### Clinical characteristics.
Smith-Magenis syndrome (SMS) is characterized by distinctive physical features (particularly facial features that progress with age), developmental delay, cognitive impairment, behavioral abnormalities, sleep disturbance, and childhood-onset abdominal obesity. Infants have f... | Smith-Magenis Syndrome | c0795864 | 8,186 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1310/ | 2021-01-18T20:56:12 | {"mesh": ["D058496"], "synonyms": ["del(17)(p11.2)"]} |
Oppenheim's sign
Differential diagnosisPyramidal tract damage
Oppenheim's sign is dorsiflexion of the great toe elicited by irritation downward of the medial side of the tibia.[1] It is one of a number of Babinski-like responses.
The sign's presence indicates a damage to the pyramidal tract.
It is named for ... | Oppenheim's sign | c1532837 | 8,187 | wikipedia | https://en.wikipedia.org/wiki/Oppenheim%27s_sign | 2021-01-18T18:55:25 | {"wikidata": ["Q1503727"]} |
## Summary
### Clinical characteristics.
Pyruvate carboxylase (PC) deficiency is characterized in most affected individuals by failure to thrive, developmental delay, recurrent seizures, and metabolic acidosis. Three clinical types are recognized:
* Type A (infantile form), in which most affected children di... | Pyruvate Carboxylase Deficiency | c0034341 | 8,188 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK6852/ | 2021-01-18T21:01:12 | {"mesh": ["D015324"], "synonyms": []} |
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Myostatin-related muscl... | Myostatin-related muscle hypertrophy | c2931112 | 8,189 | wikipedia | https://en.wikipedia.org/wiki/Myostatin-related_muscle_hypertrophy | 2021-01-18T18:56:28 | {"gard": ["10238"], "mesh": ["C536106"], "umls": ["C2931112"], "orphanet": ["275534"], "wikidata": ["Q3144217"]} |
A number sign (#) is used with this entry because of evidence that early infantile epileptic encephalopathy-50 (EIEE50) is caused by homozygous or compound heterozygous mutation in the CAD gene (114010) on chromosome 2p23.
Description
Early infantile epileptic encephalopathy-50 is an autosomal recessive progressive... | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 | c4225320 | 8,190 | omim | https://www.omim.org/entry/616457 | 2019-09-22T15:48:54 | {"doid": ["0080419"], "omim": ["616457"], "orphanet": ["448010"], "synonyms": ["Carbohydrate deficient glycoprotein syndrome type Iz", "Alternative titles", "CDG-Iz", "CDG1Z", "CDG syndrome type Iz", "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iz, FORMERLY", "Congenital disorder of glycosylation type 1z"]} |
1q21.1 microduplication is a chromosomal change in which a small amount of genetic material on chromosome 1 is abnormally copied (duplicated). The duplication occurs on the long (q) arm of the chromosome at a location designated q21.1.
Some people with a 1q21.1 microduplication have developmental delay and intel... | Chromosome 1q21.1 duplication syndrome | c2675891 | 8,191 | gard | https://rarediseases.info.nih.gov/diseases/10591/chromosome-1q211-duplication-syndrome | 2021-01-18T18:01:23 | {"mesh": ["C567290"], "omim": ["612475"], "umls": ["C2675891"], "orphanet": ["250994"], "synonyms": ["1q21.1 microduplication syndrome"]} |
Gray platelet syndrome is a bleeding disorder associated with abnormal platelets, which are small blood cells involved in blood clotting. People with this condition tend to bruise easily and have an increased risk of nosebleeds (epistaxis). They may also experience abnormally heavy or extended bleeding following surg... | Gray platelet syndrome | c0272302 | 8,192 | medlineplus | https://medlineplus.gov/genetics/condition/gray-platelet-syndrome/ | 2021-01-27T08:25:42 | {"gard": ["2562"], "mesh": ["D055652"], "omim": ["139090"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that spermatogenic failure-5 (SPGF5) is caused by homozygous or compound heterozygous mutation in the AURKC gene (603495) on chromosome 19q13.
Description
Spermatogenic failure-5 is a form of male infertility associated with large-headed, multiflagellar,... | SPERMATOGENIC FAILURE 5 | c0403812 | 8,193 | omim | https://www.omim.org/entry/243060 | 2019-09-22T16:26:20 | {"doid": ["0070183"], "mesh": ["C562903"], "omim": ["243060"], "orphanet": ["137893", "399808"], "synonyms": ["Alternative titles", "MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA", "INFERTILITY ASSOCIATED WITH MULTITAILED SPERMATOZOA AND EXCESSIVE DNA"]} |
Acrogeria, Gottron type is a premature aging syndrome which includes fragile, thin skin on the hands, feet and face and slow growth. Other symptoms include visible blood vessels, easy bruising, and hair and nail abnormalities. In general, the symptoms do not appear to get worse over time. Intelligence is normal. The ... | Acrogeria, Gottron type | c0238590 | 8,194 | gard | https://rarediseases.info.nih.gov/diseases/6543/acrogeria-gottron-type | 2021-01-18T18:02:21 | {"omim": ["201200"], "orphanet": ["2500"], "synonyms": ["Metageria", "Acrometageria", "Familial acrogeria", "Acrogeria", "Gottron syndrome"]} |
For a phenotypic description and a discussion of genetic heterogeneity of psoriasis, see PSORS1 (177900).
Mapping
Veal et al. (2001) performed a genomewide linkage analysis using 271 polymorphic markers in 284 sib pairs from 158 independent families. They identified linkage at 6p21 (PSORS1) with a nonparametric lin... | PSORIASIS 7, SUSCEPTIBILITY TO | c1854124 | 8,195 | omim | https://www.omim.org/entry/605606 | 2019-09-22T16:11:09 | {"omim": ["605606"]} |
Not to be confused with Quinism.
Cinchonism
Other namesQuinine toxicity
SpecialtyEmergency medicine
Cinchonism is a pathological condition caused by an overdose of quinine or its natural source, cinchona bark. Quinine and its derivatives are used medically to treat malaria and lupus erythematosus. In much s... | Cinchonism | c0151555 | 8,196 | wikipedia | https://en.wikipedia.org/wiki/Cinchonism | 2021-01-18T18:46:15 | {"umls": ["C0151555"], "icd-9": ["386.9", "961.4"], "icd-10": ["T37.2"], "wikidata": ["Q936656"]} |
## Summary
### Clinical characteristics.
Ethylmalonic encephalopathy (EE) is a severe, early-onset, progressive disorder characterized by developmental delay / mild-to-severe intellectual disability; generalized infantile hypotonia that evolves into hypertonia, spasticity, and (in some instances) dystonia; gene... | Ethylmalonic Encephalopathy | c1865349 | 8,197 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK453432/ | 2021-01-18T21:28:20 | {"mesh": ["C535737"], "synonyms": ["ETHE1 Deficiency"]} |
Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.
## Epidemiology
To date, all cases of D... | Dilated cardiomyopathy with ataxia | c1857776 | 8,198 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=66634 | 2021-01-23T19:09:28 | {"gard": ["10344", "12964"], "mesh": ["C565706"], "omim": ["610198"], "umls": ["C1857776"], "icd-10": ["E71.1"], "synonyms": ["3-methylglutaconic aciduria type 5", "DCMA syndrome", "MGA5"]} |
Growth hormone deficiency
Other namesPituitary dwarfism
Growth hormone
SpecialtyEndocrinology
SymptomsShort height[1]
ComplicationsLow blood sugar, high cholesterol levels, poor bone density[1][2]
TypesCongenital, acquired[1]
CausesNot enough growth hormone[3]
Risk factorsGenetics, trauma, infections,... | Growth hormone deficiency | c0013338 | 8,199 | wikipedia | https://en.wikipedia.org/wiki/Growth_hormone_deficiency | 2021-01-18T18:37:47 | {"gard": ["6552"], "mesh": ["D004393"], "icd-9": ["253.3"], "icd-10": ["E23.0"], "wikidata": ["Q369262"]} |
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