text stringlengths 297 230k | title stringlengths 4 145 | cui stringlengths 4 10 | idx int64 0 30.7k | source stringclasses 6
values | source_url stringlengths 33 155 | retrieved_date timestamp[s] | classification_map stringlengths 2 1.45k |
|---|---|---|---|---|---|---|---|
Cancer of the throat
Human papillomavirus-positive oropharyngeal cancer
Other namesHPV16+ oropharyngeal cancer, HPV16+OPC
Microscope image of tumour showing HPV positivity by in situ hybridization
SpecialtyOncology
SymptomsSore or blister in back of mouth, difficulty with speech, swallowing or breathing,... | HPV-positive oropharyngeal cancer | None | 6,600 | wikipedia | https://en.wikipedia.org/wiki/HPV-positive_oropharyngeal_cancer | 2021-01-18T18:49:41 | {"icd-10": ["C02.4", "C01", "C14.2", "C09.0", "C10.9"], "wikidata": ["Q5635621"]} |
Gaucher's disease
Acid beta-glucosidase
SpecialtyEndocrinology, neurology
Gaucher's disease or Gaucher disease (/ɡoʊˈʃeɪ/) (GD) is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs. The disorder is characterized by bruisi... | Gaucher's disease | c0017205 | 6,601 | wikipedia | https://en.wikipedia.org/wiki/Gaucher%27s_disease | 2021-01-18T18:55:19 | {"gard": ["8233"], "mesh": ["D005776"], "umls": ["C0017205"], "orphanet": ["355"], "wikidata": ["Q861645"]} |
Chromium toxicity
Chromium
SpecialtyToxicology
Chromium toxicity refers to any poisonous toxic effect in an organism or cell that results from exposure to specific forms of chromium—especially hexavalent chromium. Hexavalent chromium and its compounds are toxic when inhaled or ingested. Trivalent chromiu... | Chromium toxicity | c0161708 | 6,602 | wikipedia | https://en.wikipedia.org/wiki/Chromium_toxicity | 2021-01-18T18:33:39 | {"umls": ["C0161708"], "icd-9": ["985.6"], "icd-10": ["T56.2"], "wikidata": ["Q5113833"]} |
Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.
## Epidemiology
More than 20 families have been des... | Glycogen storage disease due to LAMP-2 deficiency | c0878677 | 6,603 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=34587 | 2021-01-23T19:03:30 | {"gard": ["9730"], "mesh": ["D052120"], "omim": ["300257"], "umls": ["C0878677"], "icd-10": ["E74.0"], "synonyms": ["Danon disease", "GSD due to LAMP-2 deficiency", "Glycogenosis due to LAMP-2 deficiency", "Lysosomal glycogen storage disease with normal acid maltase activity"]} |
A rare congenital malformation syndrome characterized by a typical facial dysmorphism, macrodontia of the permanent upper central incisors, short stature, skeletal anomalies, developmental delay and behavioral abnormalities.
## Epidemiology
The prevalence is unknown. More than 150 cases have been reported to date. ... | KBG syndrome | c0220687 | 6,604 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2332 | 2021-01-23T18:34:42 | {"gard": ["82"], "mesh": ["C537015"], "omim": ["148050"], "umls": ["C0220687"], "icd-10": ["Q87.8"], "synonyms": ["Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome"]} |
Granuloma faciale
Other namesGF
SpecialtyDermatology
Granuloma faciale is an uncommon benign chronic skin disease of unknown origin characterized by single or multiple cutaneous nodules, usually occurring over the face.[1]:836 Occasionally, extrafacial involvement is noted, most often on sun-exposed areas.
... | Granuloma faciale | c0239495 | 6,605 | wikipedia | https://en.wikipedia.org/wiki/Granuloma_faciale | 2021-01-18T18:39:43 | {"icd-9": ["701.8"], "icd-10": ["L92.2"], "wikidata": ["Q186488"]} |
Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon).
## Epidemiology
Prevalence is unknown. So far, less than 100 ca... | Waardenburg-Shah syndrome | c1848519 | 6,606 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=897 | 2021-01-23T17:08:21 | {"gard": ["5524"], "mesh": ["C536467"], "omim": ["277580", "613265", "613266"], "umls": ["C1848519", "C3266898"], "icd-10": ["Q87.8"], "synonyms": ["Shah-Waardenburg syndrome", "WS4", "Waardenburg syndrome type 4", "Waardenburg-Hirschsprung syndrome"]} |
Main article: Speech and language pathology
Speech and language impairment are basic categories that might be drawn in issues of communication involve hearing, speech, language, and fluency.
A speech impairment is characterized by difficulty in articulation of words. Examples include stuttering or problems producin... | Speech and language impairment | None | 6,607 | wikipedia | https://en.wikipedia.org/wiki/Speech_and_language_impairment | 2021-01-18T19:01:59 | {"wikidata": ["Q5356302"]} |
Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).
## Epidemiology
Around 30 cases have been reported but the prevalence of the syndrome is unknown.
## Clinical... | Baller-Gerold syndrome | c0265308 | 6,608 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1225 | 2021-01-23T19:08:37 | {"gard": ["1602"], "mesh": ["C536788"], "omim": ["218600"], "umls": ["C0265308"], "icd-10": ["Q75.0"]} |
Meckel syndrome
Other namesMeckel–Gruber syndrome, Gruber syndrome, Dysencephalia splanchnocystica
Embryos with mutation in MKS1KRC, a cause of Meckel syndrome.
SpecialtyMedical genetics
Meckel-Gruber syndrome is a rare, lethal, ciliopathic, genetic disorder, characterized by renal cystic dysplasia, centra... | Meckel–Gruber syndrome | c0311245 | 6,609 | wikipedia | https://en.wikipedia.org/wiki/Meckel%E2%80%93Gruber_syndrome | 2021-01-18T18:59:12 | {"gard": ["3436"], "umls": ["C0311245"], "orphanet": ["564"], "wikidata": ["Q1915681"]} |
A number sign (#) is used with this entry because of evidence that epidermolysis bullosa simplex (EBS) with migratory circinate erythema can be caused by mutation in the keratin-5 gene (KRT5; 148040).
Clinical Features
Gu et al. (2003) described a form of epidermolysis bullosa simplex that was milder than the D... | EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA | c1836284 | 6,610 | omim | https://www.omim.org/entry/609352 | 2019-09-22T16:06:16 | {"mesh": ["C563730"], "omim": ["609352"], "orphanet": ["158681"]} |
Olfactory reference syndrome (ORS) is a psychiatric condition in which there is a persistent false belief and preoccupation with the idea of emitting abnormal body odors which the patient thinks are foul and offensive to other individuals.[1][2] People with this condition often misinterpret others' behaviors, e.g. sn... | Olfactory reference syndrome | None | 6,611 | wikipedia | https://en.wikipedia.org/wiki/Olfactory_reference_syndrome | 2021-01-18T18:57:42 | {"wikidata": ["Q4386741"]} |
A rare ectodermal dysplasia syndrome characterized by hypotrichosis of scalp and eyebrows, finger syndactyly, intellectual disability and early eruption of teeth. Facial dysmorphism (i.e. round face with prominent forehead, cheeks and ears, and upward-slanting palpebral fissures), hypoplasia of median and distal ... | Hypotrichosis-intellectual disability, Lopes type | None | 6,612 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2266 | 2021-01-23T17:33:33 | {"synonyms": ["Lopes-Marques de Faria syndrome"]} |
The topic of this article may not meet Wikipedia's general notability guideline. Please help to demonstrate the notability of the topic by citing reliable secondary sources that are independent of the topic and provide significant coverage of it beyond a mere trivial mention. If notability cannot be shown, the articl... | Zeism | None | 6,613 | wikipedia | https://en.wikipedia.org/wiki/Zeism | 2021-01-18T19:00:04 | {"wikidata": ["Q8068594"]} |
## Clinical Features
Reardon et al. (1993) reported a brother and sister, the offspring of second-cousin Pakistani parents, with an apparently new form of mesomelic limb shortening and bowing with associated skin dimpling, retrognathia, mandibular hypoplasia, cleft palate, and camptodactyly. The sister died a f... | MESOMELIC LIMB SHORTENING AND BOWING | c2930871 | 6,614 | omim | https://www.omim.org/entry/249710 | 2019-09-22T16:25:25 | {"mesh": ["C535294"], "omim": ["249710"], "orphanet": ["2631"]} |
A rare disorder characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occurred later. Subsequently... | Early-onset progressive encephalopathy with migrant continuous myoclonus | None | 6,615 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1943 | 2021-01-23T19:06:00 | {"gard": ["2995"], "icd-10": ["G40.4"]} |
Melioidosis is an infectious disease caused by the bacteria Burkholderia pseudomallei that are commonly found in the soil and water. Melioidosis is a rare disease in the United States, but it is common in tropical or subtropical areas of the world, including Southeast Asia, Africa, and Australia. The signs and sympto... | Melioidosis | c0025229 | 6,616 | gard | https://rarediseases.info.nih.gov/diseases/9546/melioidosis | 2021-01-18T17:59:09 | {"mesh": ["D008554"], "umls": ["C0025229"], "synonyms": ["Burkholderia pseudomallei infection", "B pseudomallei infection", "Whitmore disease", "Nightcliff gardener's disease"]} |
Sturge-Weber syndrome (SWS) is a rare disorder affecting the skin and nervous system. Babies with SWS are born with a birthmark on their face known as a port-wine stain. Port-wine birthmarks are caused by enlarged blood vessels right underneath the skin. People with Sturge-Weber syndrome also have clusters of abnorma... | Sturge-Weber syndrome | c0038505 | 6,617 | gard | https://rarediseases.info.nih.gov/diseases/7706/sturge-weber-syndrome | 2021-01-18T17:57:30 | {"mesh": ["D013341"], "omim": ["185300"], "orphanet": ["3205"], "synonyms": ["SWS", "Sturge Weber syndrome", "Encephalotrigeminal angiomatosis", "Fourth phacomatosis", "Meningeal capillary angiomatosis", "Leptomeningeal angiomatosis", "Encephalofacial angiomatosis", "SWS type I - Facial and leptomeningeal angiomas", "S... |
Urethral stricture
Urethra is tube at center.
SpecialtyUrology
A urethral stricture is a narrowing of the urethra caused by injury, instrumentation, infection, and certain non-infectious forms of urethritis.[1]
## Contents
* 1 Signs and symptoms
* 1.1 Complications
* 2 Causes
* 3 Diagnosis
* 4 ... | Urethral stricture | c0041974 | 6,618 | wikipedia | https://en.wikipedia.org/wiki/Urethral_stricture | 2021-01-18T19:09:43 | {"mesh": ["D014525"], "umls": ["C0029752", "C0041974"], "icd-10": ["N35"], "wikidata": ["Q1585753"]} |
A rare ophthalmic disorder with cranial nerve involvement characterized by dysfunction of the superior oblique muscle with typical eye motility patterns including elevation in adduction, V-pattern related to reduced abduction force in downgaze with unopposed adduction by the inferior rectus muscle, and excyclotor... | Congenital trochlear nerve palsy | None | 6,619 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98686 | 2021-01-23T17:09:11 | {"icd-10": ["H49.1"], "synonyms": ["Congenital CNIV palsy", "Congenital fourth cranial nerve palsy", "Congenital superior oblique palsy"]} |
Interdigital dermatitis in cattle is caused by the anaerobic bacterium Dichelobacter nodosus. This is also the agent of footrot in sheep, but strains appear to be different and there is no cross-infection.
Interdigital dermatitis is different from footrot in cattle and both conditions may occur concurrently.
The co... | Interdigital dermatitis in cattle | None | 6,620 | wikipedia | https://en.wikipedia.org/wiki/Interdigital_dermatitis_in_cattle | 2021-01-18T18:35:00 | {"wikidata": ["Q6046090"]} |
Ascher's syndrome
Other namesLaffer-Ascher Syndrome
Ascher's syndrome, is a rare disorder first described in 1920.[1] It is characterized by repeated episodes of lip and eyelid edema and occasionally euthyroid goiter. The syndrome generally occurs within the first 20 years of life.[2] About 100 cases had b... | Ascher's syndrome | c0339085 | 6,621 | wikipedia | https://en.wikipedia.org/wiki/Ascher%27s_syndrome | 2021-01-18T18:56:56 | {"gard": ["201"], "mesh": ["C562742"], "umls": ["C0339085"], "orphanet": ["1253"], "wikidata": ["Q4803881"]} |
Benign hereditary chorea (BHC)
Other namesBenign familial chorea
Benign hereditary chorea (BHC), also known as benign familial chorea, is a rare autosomal dominant neurogenetic syndrome. It typically presents in childhood with isolated chorea, with or without dull normal intelligence. Unlike other neurogen... | Benign hereditary chorea | c1859098 | 6,622 | wikipedia | https://en.wikipedia.org/wiki/Benign_hereditary_chorea | 2021-01-18T18:33:45 | {"gard": ["1305"], "mesh": ["C565851"], "umls": ["C1859098"], "orphanet": ["1429"], "wikidata": ["Q24977061"]} |
Pyoderma gangrenosum is a rare, destructive inflammatory skin disease of which a painful nodule or pustule breaks down to form a progressively enlarging ulcer. Lesions may occur either in the absence of any apparent underlying disorder or in association with other diseases, such as ulcerative colitis, Crohn's dis... | Pyoderma gangrenosum | c0085652 | 6,623 | gard | https://rarediseases.info.nih.gov/diseases/7510/pyoderma-gangrenosum | 2021-01-18T17:58:02 | {"mesh": ["D017511"], "umls": ["C0085652"], "orphanet": ["48104"], "synonyms": []} |
Galli–Galli disease
SpecialtyDermatology
Galli–Galli disease is a rare inherited condition that has close resemblance clinically to Dowling-Degos' disease, but is histologically distinct, characterized by skin lesions that are 1- to 2-mm slightly keratotic red to dark brown papules which are focally confluent ... | Galli–Galli disease | None | 6,624 | wikipedia | https://en.wikipedia.org/wiki/Galli%E2%80%93Galli_disease | 2021-01-18T18:42:48 | {"wikidata": ["Q5519115"]} |
## Description
The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the... | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 9 | c0019569 | 6,625 | omim | https://www.omim.org/entry/611644 | 2019-09-22T16:03:03 | {"doid": ["10487"], "mesh": ["D006627"], "omim": ["611644"], "orphanet": ["388"]} |
* v
* t
* e
Major side effects of bicalutamide[1][2][3][4][5][6][7] Frequency Class of effect Effect
Very common (≥10%) Reproductive system and breast disorders • Breast tenderness[a]
• Gynecomastia[a]
Common (1-10%) General and psychiatric disorders • Asthenia
• Decreased libido
• Erectile dysfun... | Side effects of bicalutamide | c0570242 | 6,626 | wikipedia | https://en.wikipedia.org/wiki/Side_effects_of_bicalutamide | 2021-01-18T18:28:21 | {"umls": ["C0570242"], "wikidata": ["Q48841275"]} |
A number sign (#) is used with this entry because of evidence that ring dermoid of the cornea can be caused by heterozygous mutation in the PITX2 gene (601542) on chromosome 4q25.
Clinical Features
Mattos et al. (1980) reported a Peruvian family in which the grandmother, all 3 of her children (daughters), and 1... | RING DERMOID OF CORNEA | c1867155 | 6,627 | omim | https://www.omim.org/entry/180550 | 2019-09-22T16:35:07 | {"mesh": ["C535684"], "omim": ["180550"], "orphanet": ["91481"]} |
Kallmann syndrome is a condition characterized by delayed or absent puberty and an impaired sense of smell.
This disorder is a form of hypogonadotropic hypogonadism, which is a condition resulting from a lack of production of certain hormones that direct sexual development. These hormones are normally made in a part... | Kallmann syndrome | c0162809 | 6,628 | medlineplus | https://medlineplus.gov/genetics/condition/kallmann-syndrome/ | 2021-01-27T08:25:19 | {"gard": ["10771", "3071", "3070", "3073", "10772", "10773", "10774"], "mesh": ["D017436"], "omim": ["308700", "147950", "244200", "610628", "308750"], "synonyms": []} |
In a mother and her 4 children, Goldstein et al. (1985) described a previously unreported syndrome of distichiasis with congenital heart defects and mixed peripheral vascular anomalies. The 52-year-old mother had ventricular septal defect. Two daughters had surgery for patent ductus arteriosus (see 607411). Sinus bra... | DISTICHIASIS WITH CONGENITAL ANOMALIES OF THE HEART AND PERIPHERAL VASCULATURE | c1852062 | 6,629 | omim | https://www.omim.org/entry/126320 | 2019-09-22T16:42:12 | {"mesh": ["C565092"], "omim": ["126320"], "orphanet": ["1683"]} |
A number sign (#) is used with this entry because of evidence that autosomal dominant mental retardation-36 (MRD36) is caused by heterozygous mutation in the PPP2R1A gene (605983) on chromosome 19q13.
Clinical Features
The Deciphering Developmental Disorders Study (2015) identified 3 patients with intellectual disa... | MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 | c4225352 | 6,630 | omim | https://www.omim.org/entry/616362 | 2019-09-22T15:49:06 | {"doid": ["0070066"], "omim": ["616362"], "orphanet": ["457284"], "synonyms": []} |
A group of variants of mendelian susceptibility to mycobacterial diseases (MSMD) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8).
## Epidemiology
Prevalence ... | Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency | None | 6,631 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=319543 | 2021-01-23T17:05:12 | {"icd-10": ["D84.8"], "synonyms": ["Autosomal dominant MSMD due to a partial deficiency"]} |
## Clinical Features
Albumin (103600) is the major transport protein in blood for zinc. On the basis of a detailed comparison of the 18 x-ray crystal structures of human albumin available in a protein database, together with competitive zinc/cadmium-binding studies using cadmium NMR, mutagenesis, and molecular mode... | ZINC, ELEVATED PLASMA | c1860229 | 6,632 | omim | https://www.omim.org/entry/194470 | 2019-09-22T16:31:43 | {"mesh": ["C565988"], "omim": ["194470"], "orphanet": ["251523"], "synonyms": ["Alternative titles", "ALBUMIN BINDING OF ZINC, ELEVATED", "HYPERZINCEMIA, FAMILIAL DYSALBUMINEMIC"]} |
Tachylalia or tachylogia[1] is extremely rapid speech.[2] Tachylalia by itself is not considered a speech disorder. Tachylalia occurs in many clutterers and many people who have speech disorders.
Tachylalia is a generic term for speaking fast, and does not need to coincide with other speech problems.
Tachylalia may... | Tachylalia | None | 6,633 | wikipedia | https://en.wikipedia.org/wiki/Tachylalia | 2021-01-18T18:39:32 | {"wikidata": ["Q4452818"]} |
Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.
## Epidemiology
This syndrome is rare with less than 30 cases reported in the literature.
## Clinical description
The principle m... | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | c1856476 | 6,634 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2072 | 2021-01-23T18:59:01 | {"gard": ["12504", "2445"], "mesh": ["C565553"], "omim": ["231005"], "umls": ["C1856476", "C2931585"], "icd-10": ["E75.2"], "synonyms": ["Cardiovascular Gaucher disease", "Gaucher disease type 3C", "Gaucher-like disease"]} |
A number sign (#) is used with this entry because of evidence that childhood-onset neurodegeneration with ataxia, dystonia, and gaze palsy (NADGP) is caused by homozygous mutation in the SQSTM1 gene (601530) on chromosome 5q35.
Description
Childhood-onset neurodegeneration with ataxia, dystonia, and gaze palsy is a... | NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET | c4310693 | 6,635 | omim | https://www.omim.org/entry/617145 | 2019-09-22T15:46:42 | {"omim": ["617145"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive cornea plana-2 (CNA2) is caused by homozygous or compound heterozygous mutation in the KERA gene (603288) on chromosome 12q21.
Description
Cornea plana is clinically characterized by reduced corneal curvature leading in most case... | CORNEA PLANA 2, AUTOSOMAL RECESSIVE | c1857574 | 6,636 | omim | https://www.omim.org/entry/217300 | 2019-09-22T16:29:24 | {"doid": ["0060287"], "mesh": ["C565677"], "omim": ["217300"], "orphanet": ["53691"], "synonyms": []} |
Alopecia areata is a common disorder that causes hair loss. "Alopecia" is a Latin term that means baldness, and "areata" refers to the patchy nature of the hair loss that is typically seen with this condition.
In most people with alopecia areata, hair falls out in small, round patches, leaving coin-sized areas of ba... | Alopecia areata | c0263505 | 6,637 | medlineplus | https://medlineplus.gov/genetics/condition/alopecia-areata/ | 2021-01-27T08:24:48 | {"gard": ["5782", "614"], "mesh": ["C537055"], "omim": ["104000", "610753"], "synonyms": []} |
Arachnoid cysts are sacs filled with cerebrospinal fluid (CSF) that are located between the brain or spinal cord and the arachnoid membrane, one of the three membranes that cover the brain and spinal cord. Arachnoid cysts can be primary or secondary. Primary arachnoid cysts are congenital (present at birth), resultin... | Arachnoid cysts | c0078981 | 6,638 | gard | https://rarediseases.info.nih.gov/diseases/17/arachnoid-cysts | 2021-01-18T18:02:03 | {"mesh": ["D016080"], "omim": ["207790"], "orphanet": ["2356"], "synonyms": ["Arachnoid cysts, intracranial", "Intracranial arachnoid cysts"]} |
A number sign (#) is used with this entry because Lujan-Fryns syndrome is caused by mutation in the MED12 gene (300188) on chromosome Xq13.
Opitz-Kaveggia syndrome (OKS; 305450) is an allelic disorder with an overlapping phenotype.
Clinical Features
Lujan et al. (1984) described 4 mentally retarded males in a larg... | LUJAN-FRYNS SYNDROME | c0796022 | 6,639 | omim | https://www.omim.org/entry/309520 | 2019-09-22T16:17:52 | {"mesh": ["C537724"], "omim": ["309520"], "orphanet": ["776"], "synonyms": ["Alternative titles", "MENTAL RETARDATION, X-LINKED, WITH MARFANOID HABITUS"], "genereviews": ["NBK1676"]} |
A rare genetic dystonia characterized by focal or segmental isolated dystonia involving the face, neck, upper limbs (commonly writing dystonia), larynx, or trunk, with an onset from childhood to early adulthood. Dystonia may be tremulous, giving rise to head or hand tremor. Mode of inheritance is autosomal recessive.... | Primary dystonia, DYT27 type | c4225336 | 6,640 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=464440 | 2021-01-23T16:58:43 | {"omim": ["616411"], "icd-10": ["G24.1"]} |
An internalizing disorder (or internalising disorder) is one type of emotional and behavioral disorder, along with externalizing disorders, and low incidence disorders.[1] One who has an internalizing disorder will keep their problems to themselves, or internalize the problems.
## Contents
* 1 Signs and symptoms
... | Internalizing disorder | None | 6,641 | wikipedia | https://en.wikipedia.org/wiki/Internalizing_disorder | 2021-01-18T18:58:33 | {"wikidata": ["Q17126447"]} |
Anaerobic infections are caused by anaerobic bacteria. Obligately anaerobic bacteria do not grow on solid media in room air (0.04% carbon dioxide and 21% oxygen); facultatively anaerobic bacteria can grow in the presence or absence of air. Microaerophilic bacteria do not grow at all aerobically or grow poorly, but gr... | Anaerobic infection | c0854328 | 6,642 | wikipedia | https://en.wikipedia.org/wiki/Anaerobic_infection | 2021-01-18T18:36:14 | {"umls": ["C0854328"], "wikidata": ["Q4065009"]} |
Rare form of tertiary hypothyroidism
Pickardt–Fahlbusch syndrome
Other namesPickardt's syndrome or Pickardt–Fahlbusch syndrome
An interupption of the hypophyseal portal system causes Pickardt's syndrome
SpecialtyEndocrinology
Pickardt syndrome denotes a rare form of tertiary hypothyroidism that is caused ... | Pickardt syndrome | c4053775 | 6,643 | wikipedia | https://en.wikipedia.org/wiki/Pickardt_syndrome | 2021-01-18T18:37:27 | {"gard": ["13209"], "umls": ["C4053775"], "icd-9": ["253.7"], "icd-10": ["E23"], "orphanet": ["95496"], "wikidata": ["Q2092226"]} |
## Summary
### Clinical characteristics.
The 17q12 recurrent deletion syndrome is characterized by variable combinations of the three following findings: structural or functional abnormalities of the kidney and urinary tract, maturity-onset diabetes of the young type 5 (MODY5), and neurodevelopmental or neurops... | 17q12 Recurrent Deletion Syndrome | None | 6,644 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK401562/ | 2021-01-18T21:45:46 | {"synonyms": []} |
Unicentric Castleman disease (UCD) is a rare condition that affects the lymph nodes and related tissues. It is a form of Castleman disease that is "localized" to a single set of lymph nodes (as opposed to multicentric Castleman disease which has more widespread effects). UCD often starts as an enlarged lymph node. De... | Unicentric Castleman disease | c0017531 | 6,645 | gard | https://rarediseases.info.nih.gov/diseases/6005/unicentric-castleman-disease | 2021-01-18T17:57:14 | {"mesh": ["D005871"], "umls": ["C0017531"], "orphanet": ["93685"], "synonyms": ["Unicentric angiofollicular ganglionic hyperplasia", "Unicentric angiofollicular lymph hyperplasia", "Localized Castleman disease"]} |
A number sign (#) is used with this entry because of evidence that Charcot-Marie-Tooth disease type 2Q (CMT2Q) is caused by a heterozygous loss-of-function mutation in the DHTKD1 gene (614984) on chromosome 10p14. One such family has been reported.
For a phenotypic description and a discussion of genetic heterogenei... | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q | c3554366 | 6,646 | omim | https://www.omim.org/entry/615025 | 2019-09-22T15:53:25 | {"doid": ["0110170"], "omim": ["615025"], "orphanet": ["329258"], "synonyms": ["CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2Q", "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Q", "Alternative titles", "CMT2Q"]} |
A number sign (#) is used with this entry because this form of susceptibility to leprosy (LPRS3) is associated with a polymorphism in the TLR2 gene (603028) on chromosome 4q32.
See 609888 for a discussion of leprosy susceptibility in general and information on genetic heterogeneity.
Mapping
LPRS3 is associated wit... | LEPROSY, SUSCEPTIBILITY TO, 3 | c0023343 | 6,647 | omim | https://www.omim.org/entry/246300 | 2019-09-22T16:25:55 | {"mesh": ["D007918"], "omim": ["246300"], "orphanet": ["548"]} |
Ishikawa et al. (2000) reported a Japanese family with an autosomal dominant neurodegenerative disorder with mild chromosome instability and radiation sensitivity. Clinical manifestations included short stature, mental retardation, depression, dysarthria, hyperreflexia, and ataxic gait. MRI demonstrated calcification... | RADIATION SENSITIVITY/CHROMOSOME INSTABILITY SYNDROME, AUTOSOMAL DOMINANT | c1854244 | 6,648 | omim | https://www.omim.org/entry/605463 | 2019-09-22T16:11:21 | {"mesh": ["C565326"], "omim": ["605463"]} |
Central centrifugal cicatricial alopecia
Other namesHot comb alopecia and Follicular degeneration syndrome
SpecialtyDermatology
Central centrifugal cicatricial alopecia (CCCA), is a type of alopecia first noticed in African Americans in the 1950s and reported by LoPresti et al. in 1968 as a result of applica... | Central centrifugal cicatricial alopecia | c1274708 | 6,649 | wikipedia | https://en.wikipedia.org/wiki/Central_centrifugal_cicatricial_alopecia | 2021-01-18T18:52:49 | {"gard": ["10826"], "wikidata": ["Q5062079"]} |
Severe protein malnutrition
Kwashiorkor
One of many children with kwashiorkor in relief camps during the Biafra War (Image courtesy of U.S. Centers for Disease Control and Prevention)
Pronunciation
* /kwɑːʃiˈɔːrkər/
SpecialtyPediatrics
Deaths18
Kwashiorkor is a form of severe protein malnutritio... | Kwashiorkor | c0022806 | 6,650 | wikipedia | https://en.wikipedia.org/wiki/Kwashiorkor | 2021-01-18T19:05:58 | {"mesh": ["D007732"], "umls": ["C0022806"], "icd-9": ["260"], "icd-10": ["E40"], "wikidata": ["Q213151"]} |
A number sign (#) is used with this entry because supravalvular aortic stenosis (SVAS) is caused by heterozygous mutation in the gene encoding elastin (ELN; 130160) on chromosome 7q11.
SVAS is a frequent feature of Williams-Beuren syndrome (WBS; 194050), a contiguous gene deletion syndrome that includes hemizygo... | SUPRAVALVULAR AORTIC STENOSIS | c0003499 | 6,651 | omim | https://www.omim.org/entry/185500 | 2019-09-22T16:34:04 | {"doid": ["1929"], "mesh": ["D021921"], "omim": ["185500"], "icd-10": ["Q25.3"], "orphanet": ["3193"], "synonyms": ["Alternative titles", "SUPRAVALVAR AORTIC STENOSIS, EISENBERG TYPE"]} |
Tyrosine hydroxylase (TH) deficiency is a disorder that primarily affects movement, with symptoms that may range from mild to severe.
The mild form of this disorder is called TH-deficient dopa-responsive dystonia (DRD). Symptoms usually appear during childhood. Affected individuals may exhibit unusual limb positioni... | Tyrosine hydroxylase deficiency | c2673535 | 6,652 | medlineplus | https://medlineplus.gov/genetics/condition/tyrosine-hydroxylase-deficiency/ | 2021-01-27T08:24:38 | {"gard": ["1902"], "mesh": ["C537537"], "omim": ["605407"], "synonyms": []} |
Obesity in Argentina is a growing health concern with health officials stating that it is one of the leading causes of preventable deaths in the Argentina.[citation needed] According to FAO/UNO, the prevalence of obesity among adults in Argentina was of 29.4% in 2008.[1]
## Official Statistics[edit]
Information fro... | Obesity in Argentina | None | 6,653 | wikipedia | https://en.wikipedia.org/wiki/Obesity_in_Argentina | 2021-01-18T18:38:47 | {"wikidata": ["Q7074846"]} |
Deformity characterized by lateral deviation of the big toe
Bunion
Other namesHallux abducto valgus, hallux valgus, metatarsus primus varus[1]
SpecialtyOrthopedics, Podiatry
SymptomsProminent, red, and painful joint at the base of the big toe[2]
ComplicationsBursitis, arthritis[2]
Usual onsetGradual[2]... | Bunion | c0006386 | 6,654 | wikipedia | https://en.wikipedia.org/wiki/Bunion | 2021-01-18T19:03:34 | {"mesh": ["D000071378", "D006215"], "umls": ["C0018536", "C0006386"], "icd-9": ["727.1"], "icd-10": ["M20.1"], "wikidata": ["Q852574"]} |
## Summary
### Clinical characteristics.
Pycnodysostosis is characterized by short-limbed short stature, typical facial appearance (convex nasal ridge and small jaw with obtuse mandibular angle), osteosclerosis with increased bone fragility, acroosteolysis of the distal phalanges, delayed closure of the cranial... | Pycnodysostosis | c0238402 | 6,655 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK563694/ | 2021-01-18T21:01:16 | {"mesh": ["D058631"], "synonyms": ["Pyknodysostosis", "Toulouse-Lautrec Syndrome"]} |
Tetra-amelia syndrome is a very rare disorder characterized by the absence of all four limbs. This syndrome can also cause severe malformations of other parts of the body, including the face and head, heart, nervous system, skeleton, and genitalia. The lungs are underdeveloped in many cases, which makes breathing dif... | Tetra-amelia syndrome | c4012268 | 6,656 | gard | https://rarediseases.info.nih.gov/diseases/5148/tetra-amelia-syndrome | 2021-01-18T17:57:23 | {"omim": ["273395"], "orphanet": ["294971"], "synonyms": ["Total amelia", "Tetra-amelia", "Total Amelia", "Tetraamelia, autosomal recessive", "Tetra-amelia, autosomal recessive"]} |
X-linked calvarial hyperostosis is a rare, genetic, primary bone dysplasia with increased bone density disorder characterized by benign, isolated, calvarial thickening, presenting with prominent frontoparietal bones, a high forehead with ridging of the metopic and sagittal sutures, lateral frontal prominences, and fa... | X-linked calvarial hyperostosis | c1863351 | 6,657 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=391327 | 2021-01-23T19:11:53 | {"gard": ["1058"], "mesh": ["C537963"], "omim": ["302030"], "icd-10": ["M85.2"]} |
Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency (see this term) such as poor suck, metabolic acidosis and hypog... | Transient neonatal multiple acyl-CoA dehydrogenase deficiency | c4509950 | 6,658 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=329942 | 2021-01-23T17:25:06 | {"icd-10": ["E71.3"], "synonyms": ["Transient neonatal MAD deficiency", "Transient neonatal MADD", "Transient neonatal glutaric acidemia type 2", "Transient neonatal glutaric aciduria type 2"]} |
Green et al. (2003) reported an Australian family in which 22 members over 4 generations had progressive patterned scalp hypotrichosis and wiry hair similar to that seen in Marie Unna hereditary hypotrichosis (MUHH; 146550). Features differing from those of MUHH included absence of signs of abnormality at birth, rela... | HYPOTRICHOSIS, PROGRESSIVE PATTERNED SCALP, WITH WIRY HAIR, ONYCHOLYSIS, AND CLEFT LIP/PALATE | c1836521 | 6,659 | omim | https://www.omim.org/entry/609250 | 2019-09-22T16:06:30 | {"mesh": ["C563765"], "omim": ["609250"], "synonyms": ["Alternative titles", "MARIE UNNA-LIKE SCALP HYPOTRICHOSIS"]} |
A very rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea (requiring parenteral nutrition and disappearing at fasting) due to a lack of intestinal enteroendocrine cells. It is associated with early-onset (within the first weeks of life) dehydration, metabolic acidosis and diabetes... | Enteric anendocrinosis | c1835888 | 6,660 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=83620 | 2021-01-23T18:47:11 | {"mesh": ["C563673"], "omim": ["610370"], "icd-10": ["P78.3"], "synonyms": ["Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells"]} |
Injury to one or both recurrent laryngeal nerves
Vocal fold paresis
Other namesRecurrent laryngeal nerve paralysis, vocal fold paralysis
SpecialtyOtorhinolaryngology
Vocal cord paresis, also known as recurrent laryngeal nerve paralysis or vocal fold paralysis, is an injury to one or both recurrent laryngeal... | Vocal cord paresis | c0751576 | 6,661 | wikipedia | https://en.wikipedia.org/wiki/Vocal_cord_paresis | 2021-01-18T18:31:24 | {"mesh": ["D014826"], "umls": ["C1843187", "C1853729", "C1832690", "C0751576"], "icd-9": ["478.30"], "icd-10": ["J38.0"], "wikidata": ["Q684045"]} |
Eng and Strom (1987) reported a mother and daughter who had low-birth-weight dwarfism and intermittent locking of the fingers such that a fist was formed which required traction to be reduced. The mother, who had an adult height of 129.5 cm, also had a ventricular septal defect. The daughter was born by cesarean ... | FINGER LOCKING, RECURRENT, WITH INTRAUTERINE GROWTH RETARDATION AND PROPORTIONATE SHORT STATURE | c2931545 | 6,662 | omim | https://www.omim.org/entry/135950 | 2019-09-22T16:41:09 | {"mesh": ["C537603"], "omim": ["135950"], "orphanet": ["1937"]} |
Neitlich (1966) described a kindred with increased plasma cholinesterase activity and decreased responsiveness to succinylcholine.
Inheritance \- Autosomal dominant Lab \- Increased plasma cholinesterase activity Metabolic \- Decreased responsiveness to succinylcholine ▲ Close
*[v]: View this template
*[t]: ... | PSEUDOCHOLINESTERASE, INCREASE IN PLASMA LEVEL OF | c1867466 | 6,663 | omim | https://www.omim.org/entry/177600 | 2019-09-22T16:35:36 | {"omim": ["177600"]} |
XYLT1-CDG is a rare congenital disorder of glycosylation characterized by moderate intellectual disability, short stature, mild skeletal changes and distinctive facial features with coarse face, synophyrs and deep nasolabial ridges. Skeletal features include broad ribs, stocky long bones, short femoral necks with cox... | XYLT1-CDG | None | 6,664 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=370930 | 2021-01-23T19:10:59 | {"icd-10": ["E77.8"]} |
Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anaemia caused by vitamin B12 deficiency that resembles Biermer anaemia (anaemia characterised by abnormally large red blood ce... | Diphyllobothriasis | c0277032 | 6,665 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=128 | 2021-01-23T18:40:23 | {"gard": ["942"], "umls": ["C0012561", "C0277032"], "icd-10": ["B70.0"], "synonyms": ["Bothriocephalosis"]} |
Johnson–McMillin syndrome
Other namesJohnson neuroectodermal syndrome,[1] alopecia–anosmia–deafness–hypogonadism syndrome[1]
Johnson–McMillin syndrome is inherited in an autosomal dominant manner.
Johnson–McMillin syndrome, also known as Johnson neuroectodermal syndrome, is a neuroectodermal syndrome that co... | Johnson–McMillin syndrome | c0796002 | 6,666 | wikipedia | https://en.wikipedia.org/wiki/Johnson%E2%80%93McMillin_syndrome | 2021-01-18T18:35:52 | {"gard": ["378"], "mesh": ["C535882"], "umls": ["C0796002"], "orphanet": ["2316"], "wikidata": ["Q16940647"]} |
## Clinical Features
Reichel (1900) described a disorder in which foci of cartilage form in the synovial membrane of joints, tendon sheaths, and bursae by metaplasia of the connective tissue. These foci may become detached from the synovial membrane and enter the joint cavity as floating cartilage. If calcifica... | SYNOVIAL CHONDROMATOSIS, FAMILIAL, WITH DWARFISM | c1861304 | 6,667 | omim | https://www.omim.org/entry/186575 | 2019-09-22T16:32:57 | {"mesh": ["C566087"], "omim": ["186575"]} |
For a general discussion of susceptibility to Mycobacterium tuberculosis (TB), see 607948.
An epidemic of TB occurred in a community of aboriginal Canadians during the period of 1987 to 1989. Greenwood et al. (2000) collected genetic and epidemiologic data on an extended family from this community, and assessed evid... | MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 1 | c1842762 | 6,668 | omim | https://www.omim.org/entry/607949 | 2019-09-22T16:08:29 | {"omim": ["607949"], "synonyms": ["Alternative titles", "MTBS1"]} |
Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asy... | Primary tethered cord syndrome | c4708602 | 6,669 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=268861 | 2021-01-23T16:56:21 | {"gard": ["4018"], "synonyms": ["Primary tethered spinal cord syndrome"]} |
Glanzmann thrombasthenia (GT) is a rare inherited blood clotting disorder that is present at birth. It is characterized by the impaired function of specialized blood cells, called platelets, that are essential for proper blood clotting. Signs and symptoms vary greatly from person to person. Symptoms usually include a... | Glanzmann thrombasthenia | c0040015 | 6,670 | gard | https://rarediseases.info.nih.gov/diseases/2478/glanzmann-thrombasthenia | 2021-01-18T18:00:19 | {"mesh": ["D013915"], "omim": ["273800"], "umls": ["C0040015"], "orphanet": ["849"], "synonyms": ["Thrombasthenia of Glanzmann and Naegeli", "GT", "Platelet fibrinogen receptor, deficiency of", "Platelet glycoprotein 2B 3A deficiency", "Deficiency of GP 2B 3A complex", "Glanzmann thrombasthenia type A", "Diacyclothromb... |
A number sign (#) is used with this entry because of evidence that aortic valve disease-2 (AOVD2) is caused by heterozygous mutation in the SMAD6 gene (602931) on chromosome 15q22.
Description
Aortic valve disease-2 (AOVD2) is characterized by bicuspid aortic valve (BAV) and dilation of the ascending aorta. Calcifi... | AORTIC VALVE DISEASE 2 | c3542024 | 6,671 | omim | https://www.omim.org/entry/614823 | 2019-09-22T15:54:07 | {"doid": ["0080334"], "omim": ["614823", "109730"], "orphanet": ["402075"], "synonyms": ["AORTIC VALVE STENOSIS", "Alternative titles", "Familial BAV", "BICUSPID AORTIC VALVE"]} |
Esophageal intramural pseudodiverticulosis
Other namesEIPD
Endoscopic image of esophageal intramural pseudodiverticulosis demonstrating the flask-like outpouchings of the esophageal wall.
SpecialtyGastroenterology
SymptomsDifficulty swallowing
ComplicationsPeridiverticulitis, esophageal cancer
Diagnostic ... | Esophageal intramural pseudodiverticulosis | None | 6,672 | wikipedia | https://en.wikipedia.org/wiki/Esophageal_intramural_pseudodiverticulosis | 2021-01-18T18:38:08 | {"umls": ["CL380989"], "wikidata": ["Q5398633"]} |
"Egomaniac" redirects here. For other uses, see Egomania (disambiguation).
Egomania is psychiatric term used to describe excessive preoccupation with one's ego, identity or self[1] and applies the same preoccupation to anyone who follows one’s own ungoverned impulses, is possessed by delusions of personal greatn... | Egomania | c0233695 | 6,673 | wikipedia | https://en.wikipedia.org/wiki/Egomania | 2021-01-18T18:54:51 | {"umls": ["C0233695"], "wikidata": ["Q1298422"]} |
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. (November 2012)
Anorectal disorders are painful but common conditions like hemorrhoids, tears, fistulas, or abscesses that affect the anal region.[1][... | Anorectal disorder | c0687707 | 6,674 | wikipedia | https://en.wikipedia.org/wiki/Anorectal_disorder | 2021-01-18T18:41:58 | {"mesh": ["D012002"], "icd-10": ["K62"], "wikidata": ["Q4770164"]} |
GMS syndrome
Other namesGoniodysgenesis-intellectual disability-short stature syndrome
GMS syndrome is a syndrome characterised by goniodysgenesis, intellectual disability, and short stature.[1]
## References[edit]
1. ^ Kupchik GS, Ludman MD, Raab EL, Gilbert F (January 1992). "GMS syndrome: a new dominant... | GMS syndrome | c1841854 | 6,675 | wikipedia | https://en.wikipedia.org/wiki/GMS_syndrome | 2021-01-18T18:48:07 | {"gard": ["2545", "2523"], "mesh": ["C564214"], "umls": ["C1841854"], "orphanet": ["2090"], "wikidata": ["Q5513797"]} |
Abdominal aortic aneurysms (AAAs) are aneurysms that occur in the part of the aorta that passes through the abdomen. They may occur at any age, but are most common in men between 50 and 80 years of age. Many people with an AAA have no symptoms, but some people have a pulsing sensation in the abdomen and/or pain i... | Abdominal aortic aneurysm | c0162871 | 6,676 | gard | https://rarediseases.info.nih.gov/diseases/9181/abdominal-aortic-aneurysm | 2021-01-18T18:02:24 | {"mesh": ["D017544"], "omim": ["100070"], "umls": ["C0162871"], "orphanet": ["86"], "synonyms": ["Aneurysm, abdominal aortic"]} |
A malignancy that develops from epithelial cells
Not to be confused with carcinoid, which is sometimes a type of carcinoma but is more often benign.
Carcinoma
Micrograph of a lung primary small cell carcinoma, a type of carcinoma. The clustered cancerous cells consist primarily of nucleus (purple); they have only... | Carcinoma | c0007097 | 6,677 | wikipedia | https://en.wikipedia.org/wiki/Carcinoma | 2021-01-18T18:51:56 | {"mesh": ["D002277"], "umls": ["C1368683", "C0553707", "C0007097"], "wikidata": ["Q33525"]} |
A number sign (#) is used with this entry because pulmonary venoocclusive disease-2 (PVOD2) is caused by homozygous or compound heterozygous mutation in the EIF2AK4 gene (609280) on chromosome 15q15.
Description
Pulmonary venoocclusive disease-2 is an autosomal recessive subtype of primary pulmonary hypertensio... | PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE | c0340548 | 6,678 | omim | https://www.omim.org/entry/234810 | 2019-09-22T16:27:11 | {"omim": ["234810"], "orphanet": ["199241"], "synonyms": ["Alternative titles", "HEMANGIOMATOSIS, FAMILIAL PULMONARY CAPILLARY"]} |
Acute myeloid leukemia (AML) is a cancer that affects the blood and bone marrow. Conditions are generally called "acute" when they develop quickly and have an aggressive course. The signs and symptoms of AML vary but may include easy bruising; bone pain or tenderness; fatigue; fever; frequent nosebleeds; bleeding fro... | Acute myeloid leukemia | c0023467 | 6,679 | gard | https://rarediseases.info.nih.gov/diseases/12757/acute-myeloid-leukemia | 2021-01-18T18:02:18 | {"mesh": ["D015470"], "omim": ["601626"], "orphanet": ["519"], "synonyms": ["Acute myelogenous leukemia"]} |
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: "Dermatographic urticaria" – news · newspapers · books · scholar · JSTOR (January 2021) (Learn how and when to remove th... | Dermatographic urticaria | c1852145 | 6,680 | wikipedia | https://en.wikipedia.org/wiki/Dermatographic_urticaria | 2021-01-18T18:43:16 | {"gard": ["9480"], "mesh": ["C536612"], "umls": ["C1852145"], "wikidata": ["Q1200268"]} |
Myhre syndrome is a rare condition that affects connective tissue. Connective tissue provides strength and flexibility to structures throughout the body. Myhre syndrome has a variety of signs and symptoms that affect many parts of the body, though not everyone has all the possible features. The features of the co... | Myhre syndrome | c0796081 | 6,681 | medlineplus | https://medlineplus.gov/genetics/condition/myhre-syndrome/ | 2021-01-27T08:25:08 | {"gard": ["2572"], "mesh": ["C537620"], "omim": ["139210"], "synonyms": []} |
Nonverbal autism is a subset of autism where the person does not learn how to speak. It is estimated that 25% to 50% of children diagnosed with autism spectrum disorder (ASD) never develop spoken language beyond a few words or utterances.[1]
## Contents
* 1 Background
* 2 Early predictors
* 3 Potential causes... | Nonverbal autism | None | 6,682 | wikipedia | https://en.wikipedia.org/wiki/Nonverbal_autism | 2021-01-18T18:59:54 | {"wikidata": ["Q42417308"]} |
Infectious arthritis is joint pain, soreness, stiffness and swelling caused by a bacterial, viral, or fungal infection that spreads from another part of the body. Depending on the type of infection, one or more joints may be affected. Certain bacteria can cause a form of infectious arthritis called reactive arthritis... | Infectious arthritis | c0003869 | 6,683 | gard | https://rarediseases.info.nih.gov/diseases/6781/infectious-arthritis | 2021-01-18T17:59:46 | {"mesh": ["D001170"], "umls": ["C0003869"], "synonyms": ["Septic arthritis"]} |
A number sign (#) is used with this entry because polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) is caused by homozygous or compound heterozygous mutation in the ABHD12 gene (613599) on chromosome 20p11.
Clinical Features
Fiskerstrand et al. (2009) reported a consanguineous Norwegi... | POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT | c2675204 | 6,684 | omim | https://www.omim.org/entry/612674 | 2019-09-22T16:00:47 | {"doid": ["0080181"], "mesh": ["C567203"], "omim": ["612674"], "orphanet": ["171848"]} |
## Clinical Features
Dianzani et al. (1997) identified 6 unrelated patients with a clinical picture resembling that of autoimmune lymphoproliferative syndrome (ALPS; 601859), but the patients showed no expansion of CD4 (186940)/CD8 (see 186910) double-negative T cells. T cells displayed reduced FAS (134637) capacit... | DIANZANI AUTOIMMUNE LYMPHOPROLIFERATIVE DISEASE | c2931071 | 6,685 | omim | https://www.omim.org/entry/605233 | 2019-09-22T16:11:27 | {"mesh": ["C535950"], "omim": ["605233"], "orphanet": ["275523"], "synonyms": ["Alternative titles", "DALD"]} |
Mutagen sensitivity has been found to be increased in patients with environmentally related cancers, including cancers of the head and neck, lung, and colon. In combination with carcinogenic exposure, this susceptibility can greatly influence cancer risk. Hsu et al. (1989) reported that susceptibility to bleomycin-in... | MUTAGEN SENSITIVITY | c1864867 | 6,686 | omim | https://www.omim.org/entry/610452 | 2019-09-22T16:04:28 | {"omim": ["610452"]} |
Gestational trophoblastic tumors (GTT) are malignant forms of gestational trophoblastic disease. The tumor always follows pregnancy, most often molar pregnancy (hydatidiform mole; see this term). Four histological subtypes have been described: invasive mole, gestational choriocarcinoma, placental site trophoblastic t... | Gestational trophoblastic neoplasm | c1135868 | 6,687 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=59305 | 2021-01-23T18:41:52 | {"gard": ["6498"], "mesh": ["D031901"], "umls": ["C1135868"], "synonyms": ["GTN"]} |
A number sign (#) is used with this entry because complement component 8 deficiency type II (C8B deficiency) is caused by homozygous or compound heterozygous mutation in the C8B gene (120960) on chromosome 1p32.
Description
Patients with deficiency of C8 suffer from recurrent neisserial infections, predominantly wi... | COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II | c3151080 | 6,688 | omim | https://www.omim.org/entry/613789 | 2019-09-22T15:57:32 | {"doid": ["0060302"], "omim": ["613789"], "orphanet": ["169150"], "synonyms": ["Immunodeficiency due to C5 to C9 component complement deficiency", "Alternative titles", "COMPLEMENT COMPONENT 8B DEFICIENCY", "C8B DEFICIENCY", "C8 DEFICIENCY, TYPE II", "Terminal complement pathway deficiency", "C8 BETA DEFICIENCY"]} |
Raphaelson et al. (1983) described 2 brothers who had onset of precocious puberty (due to Leydig cell hyperplasia) and spastic paraplegia at the age of 2 years. Both later had moderate mental retardation. Relatives (2 sisters, father, paternal grandfather, paternal half brother) had brisk leg reflexes and dysarthria ... | SPASTIC PARAPLEGIA WITH PRECOCIOUS PUBERTY | c1866850 | 6,689 | omim | https://www.omim.org/entry/182820 | 2019-09-22T16:34:39 | {"mesh": ["C536874"], "omim": ["182820"], "orphanet": ["2826"], "synonyms": ["Alternative titles", "PRECOCIOUS PUBERTY WITH SPASTIC PARAPLEGIA"]} |
In 10 persons in 4 generations, Furukawa et al. (1968) found muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus. The diabetes was of relatively late onset. The disorder resembled Refsum syndrome (266500) except in its mode of inheritance. Several instances of male-to-male transmission were observed... | MUSCULAR ATROPHY, ATAXIA, RETINITIS PIGMENTOSA, AND DIABETES MELLITUS | c0342281 | 6,690 | omim | https://www.omim.org/entry/158500 | 2019-09-22T16:37:57 | {"mesh": ["C562774"], "omim": ["158500"], "orphanet": ["2579"]} |
This article includes a list of general references, but it remains largely unverified because it lacks sufficient corresponding inline citations. Please help to improve this article by introducing more precise citations. (December 2012) (Learn how and when to remove this template message)
Stickler syndrome (here... | Stickler syndrome | c0265253 | 6,691 | wikipedia | https://en.wikipedia.org/wiki/Stickler_syndrome | 2021-01-18T18:45:55 | {"gard": ["10782"], "mesh": ["C537492"], "umls": ["C0265253"], "icd-9": ["759.89"], "icd-10": ["Q89.8"], "orphanet": ["828"], "wikidata": ["Q2288646"]} |
Multiple congenital anomalies, prominently including malformations of the head and face (small, malformed, or missing ears, micrognathia, and cleft palate), heart (particularly conotruncal defects and aortic arch anomalies), and central nervous system (especially hydrocephalus and posterior fossa abnormalities), ... | ISOTRETINOIN EMBRYOPATHY-LIKE SYNDROME | c0432364 | 6,692 | omim | https://www.omim.org/entry/243440 | 2019-09-22T16:26:16 | {"mesh": ["C535542"], "omim": ["243440"], "orphanet": ["2306"], "synonyms": ["Alternative titles", "MICROTIA-AORTIC ARCH SYNDROME"]} |
A number sign (#) is used with this entry because combined oxidative phosphorylation deficiency-5 (COXPD5) can be caused by homozygous mutation in the MRPS22 gene (605810) on chromosome 3q23.
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).
Clinical Fe... | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 | c2673642 | 6,693 | omim | https://www.omim.org/entry/611719 | 2019-09-22T16:03:03 | {"doid": ["0060286"], "mesh": ["C567126"], "omim": ["611719"], "orphanet": ["137908"]} |
Mixed connective tissue disease
Other namesSharp's syndrome[1]
SpecialtyImmunology, rheumatology
Differential diagnosisCPT2.
Mixed connective tissue disease commonly abbreviated as MCTD, is an autoimmune disease characterized by the presence of elevated blood levels of a specific autoantibody, now called a... | Mixed connective tissue disease | c0026272 | 6,694 | wikipedia | https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease | 2021-01-18T19:07:15 | {"gard": ["7051"], "mesh": ["D008947"], "umls": ["C0026272"], "icd-9": ["710.8"], "orphanet": ["809"], "wikidata": ["Q1622407"]} |
Lymphoid leukemia
Other namesLymphocytic, lymphogenous, lymphoblastic leukemias
SpecialtyOncology, hematology
Lymphoid leukemias are a group of leukemias affecting circulating lymphocytes, a type of white blood cells. The lymphocytic leukemias are closely related to lymphomas of the lymphocytes, to the p... | Lymphoid leukemia | c0152271 | 6,695 | wikipedia | https://en.wikipedia.org/wiki/Lymphoid_leukemia | 2021-01-18T18:33:20 | {"mesh": ["D007945"], "umls": ["C0152271"], "icd-10": ["C91"], "wikidata": ["Q6708277"]} |
## Clinical Features
Chan and Bird (2004) reported a family with abdominal wall muscular hypoplasia as an isolated defect and not associated with the urethral obstruction sequence known as prune belly syndrome (100100). The proband was a 3-year-old boy who presented with abdominal wall laxity and severe constip... | DIASTASIS RECTI AND WEAKNESS OF THE LINEA ALBA | c2677303 | 6,696 | omim | https://www.omim.org/entry/612198 | 2019-09-22T16:02:16 | {"mesh": ["C567402"], "omim": ["612198"]} |
Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skel... | Leber plus disease | c1833830 | 6,697 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99718 | 2021-01-23T18:09:24 | {"gard": ["8476"], "mesh": ["C563496"], "omim": ["165200", "500001"], "icd-10": ["H47.2"], "synonyms": ["LHON plus disease"]} |
Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as Guiffré-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit.
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*[e... | Radioulnar synostosis-microcephaly-scoliosis syndrome | c1863881 | 6,698 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3268 | 2021-01-23T18:39:00 | {"gard": ["394"], "omim": ["603438"], "umls": ["C1863881"], "synonyms": ["Giuffré-Tsukahara syndrome", "Tsukahara syndrome"]} |
## Summary
### Clinical characteristics.
ASXL3-related disorder is characterized by developmental delay or intellectual disability, typically in the moderate to severe range, with speech and language delay and/or absent speech. Affected individuals may also display autistic features. There may be issues with feedin... | ASXL3-Related Disorder | None | 6,699 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK563693/ | 2021-01-18T21:44:20 | {"synonyms": ["Bainbridge-Ropers Syndrome (BRPS)"]} |
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