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A number sign (#) is used with this entry because X-linked lissencephaly with ambiguous genitalia (LISX2, XLAG), as well as hydranencephaly and abnormal genitalia, can be caused by mutation in the ARX gene (300382).
See also Proud syndrome (300004), an allelic disorder with an overlapping phenotype. Early infant... | LISSENCEPHALY, X-LINKED, 2 | c1846171 | 7,400 | omim | https://www.omim.org/entry/300215 | 2019-09-22T16:20:40 | {"doid": ["0050453"], "mesh": ["C564563"], "omim": ["300215"], "orphanet": ["452"], "synonyms": ["Alternative titles", "LISSENCEPHALY, X-LINKED, WITH AMBIGUOUS GENITALIA", "XLISG"]} |
A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline. This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an incr... | ABetaL34V amyloidosis | c2931672 | 7,401 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=324703 | 2021-01-23T19:00:18 | {"mesh": ["C537944"], "omim": ["605714"], "icd-10": ["E85.4+", "I68.0*"], "synonyms": ["ABeta amyloidosis, Piedmont type", "ABetaL34V-related amyloidosis", "HCHWA, Piedmont type", "Hereditary cerebral hemorrhage with amyloidosis, Piedmont type"]} |
A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 20-30 years, major systemic amyloidosis and recurrent lobar intracerebral hemorrhages. Unlike other forms of hereditary cerebral hemorrhage with amyloidosis, this subtype is due to a mutation in the CST3 gene (20p11.2), enco... | ACys amyloidosis | c1527338 | 7,402 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100008 | 2021-01-23T18:30:24 | {"mesh": ["D028243"], "omim": ["105150"], "umls": ["C1527338"], "icd-10": ["E85.4+", "I68.0*"], "synonyms": ["CST3-related amyloidosis", "Cystatin amyloidosis", "HCHWA, Icelandic type", "Hereditary cerebral hemorrhage with amyloidosis, Icelandic type", "Hereditary cystatin C amyloid angiopathy"]} |
Acrocallosal syndrome is a rare condition characterized by a brain abnormality called agenesis of the corpus callosum, the presence of extra fingers and toes (polydactyly), and distinctive facial features. The signs and symptoms of this disorder are present at birth, and their severity varies widely among affected in... | Acrocallosal syndrome | c0796147 | 7,403 | medlineplus | https://medlineplus.gov/genetics/condition/acrocallosal-syndrome/ | 2021-01-27T08:25:26 | {"gard": ["5721"], "mesh": ["D055673"], "omim": ["200990"], "synonyms": []} |
## Clinical Features
Headington and Astle (1987) described a 14-year-old girl and her mother who had patchy hair loss present from early childhood. When studied in transverse section, biopsy specimens from both women showed marked anagen-telogen transformation that appeared to be irreversible. Preservation of telog... | ALOPECIA, FAMILIAL FOCAL | c1863092 | 7,404 | omim | https://www.omim.org/entry/104110 | 2019-09-22T15:41:17 | {"mesh": ["C566301"], "omim": ["104110"]} |
Von Hippel-Lindau syndrome is an inherited disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body. Tumors may be either noncancerous or cancerous and most frequently appear during young adulthood; however, the signs and symptoms of von Hippel-Lindau syndrom... | Von Hippel-Lindau syndrome | c0019562 | 7,405 | medlineplus | https://medlineplus.gov/genetics/condition/von-hippel-lindau-syndrome/ | 2021-01-27T08:24:53 | {"gard": ["7855"], "mesh": ["D006623"], "omim": ["193300"], "synonyms": []} |
A number sign (#) is used with this entry because autosomal dominant mental retardation-13 (MRD13) is caused by heterozygous mutation in the DYNC1H1 gene (600112) on chromosome 14q32.
Description
MRD13 is an autosomal dominant form of mental retardation associated with variable neuronal migration defects resulting ... | MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 | c3281202 | 7,406 | omim | https://www.omim.org/entry/614563 | 2019-09-22T15:54:52 | {"doid": ["0070043"], "omim": ["614563"], "orphanet": ["178469"], "synonyms": ["Alternative titles", "MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, WITH NEURONAL MIGRATION DEFECTS"]} |
A number sign (#) is used with this entry because of evidence that nonsyndromic autosomal recessive deafness-18A (DFNB18A) is caused by homozygous mutation in the gene encoding harmonin (605242) on chromosome 11p15. Mutations in the harmonin gene also cause Usher syndrome type IC (USH1C; 276904).
A form of autosomal... | DEAFNESS, AUTOSOMAL RECESSIVE 18A | c1865870 | 7,407 | omim | https://www.omim.org/entry/602092 | 2019-09-22T16:13:56 | {"doid": ["0110473"], "mesh": ["C566580"], "omim": ["602092"], "orphanet": ["90636"], "synonyms": ["Autosomal recessive non-syndromic neurosensory deafness type DFNB", "Alternative titles", "Autosomal recessive isolated sensorineural deafness type DFNB", "DEAFNESS, AUTOSOMAL RECESSIVE 18", "Autosomal recessive isolated... |
## Clinical Features
In 2 daughters of Iraqi first-cousin parents, Harbord et al. (1990) observed a progressive neurologic disorder characterized by megalencephaly, spasticity, ataxia, and seizures. Onset of manifestations occurred between ages 2 and 3. Computerized tomography scans showed diffuse hypodensity of th... | MEGALENCEPHALY WITH DYSMYELINATION | c1855309 | 7,408 | omim | https://www.omim.org/entry/249240 | 2019-09-22T16:25:30 | {"mesh": ["C565408"], "omim": ["249240"], "synonyms": ["Alternative titles", "MEGALENCEPHALY WITH DIFFUSE WHITE MATTER HYPODENSITY"]} |
## Clinical Features
Coats disease, also called retinal telangiectasis, is a sporadic disorder characterized by a defect of retinal vascular development that results in vessel leakage, subretinal exudation, and retinal detachment. The disorder was first reported by Coats (1908) in 6 children. Initially, the conditi... | COATS DISEASE | c0154832 | 7,409 | omim | https://www.omim.org/entry/300216 | 2019-09-22T16:20:39 | {"doid": ["7765"], "mesh": ["D058456"], "omim": ["300216"], "icd-9": ["362.12"], "icd-10": ["H35.02", "H35.07"], "orphanet": ["190"], "synonyms": ["Alternative titles", "RETINAL TELANGIECTASIS"], "genereviews": ["NBK1331"]} |
## Clinical Features
Cockshott and Omololu (1958) described a father and his infant daughter with congenital posterior dislocation of the radial head. Neither could extend their elbows below the right angle, whereas pronation and supination were unrestricted. The tendons of insertion of both biceps stood out promin... | RADIAL HEADS, POSTERIOR DISLOCATION OF | c1867398 | 7,410 | omim | https://www.omim.org/entry/179200 | 2019-09-22T16:35:21 | {"mesh": ["C566728"], "omim": ["179200"]} |
The superior and inferior lumbar triangles with a cross section at the level of the superior lumbar triangle
Grynfeltt-Lesshaft hernia is a herniation of abdominal contents through the back, specifically through the superior lumbar triangle, which is defined by the quadratus lumborum muscle, twelfth rib, and interna... | Grynfeltt-Lesshaft hernia | None | 7,411 | wikipedia | https://en.wikipedia.org/wiki/Grynfeltt-Lesshaft_hernia | 2021-01-18T18:33:07 | {"wikidata": ["Q5612430"]} |
Congenital hemorrhagic diathesis due to an excess of a clotting inhibitor has not been fully established. Quick (1957) diagnosed congenital hyperheparinemia in a woman with abnormal bleeding from age 3. Heni and Krauss (1956) described a similar condition in a father and daughter. In both instances the in vitro c... | HYPERHEPARINEMIA | c3203346 | 7,412 | omim | https://www.omim.org/entry/144050 | 2019-09-22T16:39:58 | {"mesh": ["C562723"], "omim": ["144050"], "icd-10": ["D68.32"]} |
A number sign (#) is used with this entry because of evidence that acid-labile subunit deficiency (ACLSD) is caused by homozygous or compound heterozygous mutation in the IGFALS gene (601489) on chromosome 16p13.
Description
Acid-labile subunit deficiency is characterized by severely reduced serum insulin-like grow... | ACID-LABILE SUBUNIT DEFICIENCY | c4321359 | 7,413 | omim | https://www.omim.org/entry/615961 | 2019-09-22T15:50:27 | {"omim": ["615961"], "orphanet": ["140941"], "synonyms": []} |
Paroxysmal exercise-induced dystonia
Other namesParoxysmal exertion-induced dyskinesia
This condition is inherited in an autosomal dominant manner
SpecialtyNeurology
Paroxysmal exercise-induced dystonia or PED is a rare neurological disorder characterized by sudden, transient, involuntary movements, often ... | Paroxysmal exercise-induced dystonia | c1842534 | 7,414 | wikipedia | https://en.wikipedia.org/wiki/Paroxysmal_exercise-induced_dystonia | 2021-01-18T18:37:47 | {"gard": ["10541"], "mesh": ["C564288"], "umls": ["C1842534"], "orphanet": ["98811"], "wikidata": ["Q7139585"]} |
Congenital malformation of the cerebellar vermis
Dandy–Walker malformation
Other namesDandy–Walker syndrome (DWS),[1] Dandy–Walker complex (DWC),[2] Dandy–Walker continuum[3]
T2-weighted sagittal MRI of Dandy–Walker variant (DWV) with dysplasia of the pons and cerebellar vermis in an 8-year old
SpecialtyMe... | Dandy–Walker malformation | c0010964 | 7,415 | wikipedia | https://en.wikipedia.org/wiki/Dandy%E2%80%93Walker_malformation | 2021-01-18T19:02:03 | {"gard": ["6242"], "mesh": ["D003616"], "umls": ["C0010964"], "icd-9": ["742.3"], "orphanet": ["217"], "wikidata": ["Q733493"]} |
A number sign (#) is used with this entry because of evidence that hereditary sensory neuropathy type IF (HSN1F) is caused by heterozygous mutation in the ATL3 gene (609369) on chromosome 11q13.
Description
Hereditary sensory neuropathy type IF is an autosomal dominant sensory neuropathy affecting the lower lim... | NEUROPATHY, HEREDITARY SENSORY, TYPE IF | c0020071 | 7,416 | omim | https://www.omim.org/entry/615632 | 2019-09-22T15:51:22 | {"doid": ["0070154"], "mesh": ["D009477"], "omim": ["615632"], "orphanet": ["36386"], "synonyms": ["Alternative titles", "HSN IF"]} |
A form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (at least ± 3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this templ... | Lissencephaly with cerebellar hypoplasia type D | c4274991 | 7,417 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100014 | 2021-01-23T17:36:48 | {"icd-10": ["Q04.3"]} |
This article is about the kind of muscle injury. For other uses, see Strain (disambiguation).
Not to be confused with Sprain.
Strain
Other namesMuscle strain, pulled muscle, torn muscle
Two images of the same strain to the hamstring and associated bruising. One of the pictures was shot through a mirror.
Speci... | Strain (injury) | c0080194 | 7,418 | wikipedia | https://en.wikipedia.org/wiki/Strain_(injury) | 2021-01-18T18:31:06 | {"mesh": ["D013180"], "umls": ["C0080194"], "icd-9": ["848.9"], "icd-10": ["M62.6", "T14.3"], "wikidata": ["Q576145"]} |
Erythromelanosis follicularis faciei et colli
SpecialtyDermatology
Erythromelanosis follicularis faciei et colli is an erythematous pigmentary disease involving the follicles, characterized by a reddish-brown, sharply demarcated, symmetrical discoloration involving the preauricular and maxillary regions.[1... | Erythromelanosis follicularis faciei et colli | c0263577 | 7,419 | wikipedia | https://en.wikipedia.org/wiki/Erythromelanosis_follicularis_faciei_et_colli | 2021-01-18T18:39:33 | {"umls": ["C0263577"], "wikidata": ["Q5396486"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to thyrotoxic periodic paralysis-1 (TTPP1) is conferred by variation in the CACNA1S gene on chromosome 1q32.
Description
Thyrotoxic periodic paralysis is a sporadic muscle disorder characterized by episodic attacks of weakness ass... | THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1 | c0268446 | 7,420 | omim | https://www.omim.org/entry/188580 | 2019-09-22T16:32:32 | {"omim": ["188580"], "orphanet": ["79102"]} |
Chronic sclerosing sialadenitis
SpecialtyDentistry
Chronic sclerosing sialadenitis is a chronic (long-lasting) inflammatory condition affecting the salivary gland. Relatively rare in occurrence, this condition is benign, but presents as hard, indurated and enlarged masses that are clinically indistinguishable ... | Chronic sclerosing sialadenitis | c2826557 | 7,421 | wikipedia | https://en.wikipedia.org/wiki/Chronic_sclerosing_sialadenitis | 2021-01-18T18:39:21 | {"wikidata": ["Q17083598"]} |
The arm of a patient with familial multiple lipomatosis.
Familial multiple lipomatosis is a hereditary adipose tissue disorder that is characterized by the formation of multiple lipomas that occur in a particular distribution.[1] The lipomas are well-encapsulated, slow-growing, benign fatty tumors. The distribut... | Familial multiple lipomatosis | c1275273 | 7,422 | wikipedia | https://en.wikipedia.org/wiki/Familial_multiple_lipomatosis | 2021-01-18T18:53:19 | {"mesh": ["D000071070"], "wikidata": ["Q85760447"]} |
Gianotti–Crosti syndrome
SpecialtyDermatology
Gianotti–Crosti syndrome (/dʒəˈnɒti ˈkrɒsti/), also known as infantile papular acrodermatitis,[1] papular acrodermatitis of childhood,[1] and papulovesicular acrolocated syndrome,[2]:389 is a reaction of the skin to a viral infection.[3] Hepatitis B virus[4] and Ep... | Gianotti–Crosti syndrome | None | 7,423 | wikipedia | https://en.wikipedia.org/wiki/Gianotti%E2%80%93Crosti_syndrome | 2021-01-18T19:00:53 | {"gard": ["6499"], "icd-9": ["057.8"], "icd-10": ["L44.4"], "wikidata": ["Q475972"]} |
## Clinical Features
The Wildervanck syndrome consists of congenital perceptive deafness, Klippel-Feil anomaly (see 118100), and abducens palsy with retractio bulbi (Duane syndrome). The disorder is limited, or almost completely limited, to females, raising the question of sex-linked dominance with lethality in... | WILDERVANCK SYNDROME | c0265239 | 7,424 | omim | https://www.omim.org/entry/314600 | 2019-09-22T16:17:04 | {"mesh": ["C535326"], "omim": ["314600"], "orphanet": ["3456"], "synonyms": ["Alternative titles", "CERVICOOCULOACOUSTIC SYNDROME"]} |
"Trich" redirects here. For the hair-pulling disorder, see Trichotillomania.
Not to be confused with Trichinosis or Trichuriasis.
Trichomoniasis
Other namesTrich[1]
Micrograph showing a positive result for trichomoniasis. A trichomonas organism is seen on the top-right of the image.
SpecialtyGynecology
Symp... | Trichomoniasis | c0040921 | 7,425 | wikipedia | https://en.wikipedia.org/wiki/Trichomoniasis | 2021-01-18T18:56:50 | {"mesh": ["D014245"], "umls": ["C0040921"], "wikidata": ["Q745865"]} |
toxic effects of thallium
Thallium poisoning
Other namesThallium Toxicity
Thallium
SpecialtyToxicology
Thallium poisoning is poisoning due to thallium and its compounds which are often highly toxic.[1] Contact with skin is dangerous, and adequate ventilation should be provided when melting this metal.... | Thallium poisoning | c0238452 | 7,426 | wikipedia | https://en.wikipedia.org/wiki/Thallium_poisoning | 2021-01-18T19:05:58 | {"icd-9": ["985.8"], "icd-10": ["T60.4"], "wikidata": ["Q374832"]} |
Oculocerebrorenal syndrome
Other namesLowe syndrome
Oculocerebrorenal syndrome is X-linked recessive.
SpecialtyObstetrics and gynaecology, urology, neurology, medical genetics, endocrinology
SymptomsCataracts[1]
CausesMutations in OCRL gene[1]
Diagnostic methodMRI, urinalysis[2]
TreatmentPhysical th... | Oculocerebrorenal syndrome | c2713392 | 7,427 | wikipedia | https://en.wikipedia.org/wiki/Oculocerebrorenal_syndrome | 2021-01-18T18:42:53 | {"gard": ["3295"], "mesh": ["D009800"], "umls": ["C2713392"], "icd-9": ["270.8"], "orphanet": ["534"], "wikidata": ["Q1200839"]} |
Axillary nerve dysfunction
Axillary nerve(green arrow)
SpecialtyNeurology
Axillary nerve dysfunction is any disorder caused by damage to the axillary nerve.[1] The axillary nerve is a branch of the brachial plexus that innervates the deltoid and teres minor muscles. This nerve can be injured or damaged i... | Axillary nerve dysfunction | None | 7,428 | wikipedia | https://en.wikipedia.org/wiki/Axillary_nerve_dysfunction | 2021-01-18T18:58:54 | {"wikidata": ["Q4830469"]} |
A rare genetic syndrome with limb malformations as a major feature characterized by preaxial polydactyly of the hands and feet with variable phenotypic expressivity in combination with hypertrichosis extending from the posterior hairline to the middle of the back. Reported limb malformations include triphalangeal... | Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome | None | 7,429 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=476119 | 2021-01-23T17:04:24 | {} |
Colon polyps
Polyp of sigmoid colon as revealed by colonoscopy. Approximately 1 cm in diameter. The polyp was removed by snare cautery.
SpecialtyGastroenterology
A colorectal polyp is a polyp (fleshy growth) occurring on the lining of the colon or rectum.[1] Untreated colorectal polyps can develop into color... | Colorectal polyp | c0009376 | 7,430 | wikipedia | https://en.wikipedia.org/wiki/Colorectal_polyp | 2021-01-18T18:47:10 | {"mesh": ["D003111"], "umls": ["C0009376"], "icd-10": ["K63.5"], "wikidata": ["Q1209892"]} |
TANGO2-related metabolic encephalopathy and arrhythmias is a disease that can cause episodes of metabolic crises and abnormal heart rhythms (arrhythmia). A metabolic crisis is caused by having low blood sugar (hypoglycemia) and the buildup of toxic products in the blood. A metabolic crisis can occur in any person... | TANGO2-Related Metabolic Encephalopathy and Arrhythmias | c4225171 | 7,431 | gard | https://rarediseases.info.nih.gov/diseases/13423/tango2-related-metabolic-encephalopathy-and-arrhythmias | 2021-01-18T17:57:25 | {"omim": ["616878"], "orphanet": ["480864"], "synonyms": ["TANGO2 related disease", "Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration", "Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome", "TANG... |
A number sign (#) is used with this entry because Charcot-Marie-Tooth disease type 4B2 is caused by mutation in the SBF2 gene (607697).
Description
Autosomal recessive Charcot-Marie-Tooth disease type 4B is a demyelinating hereditary motor and sensory neuropathy characterized by abnormal folding of myelin sheaths. ... | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2 | c1858278 | 7,432 | omim | https://www.omim.org/entry/604563 | 2019-09-22T16:11:52 | {"doid": ["0110190"], "mesh": ["C535421"], "omim": ["604563"], "orphanet": ["99956"], "synonyms": ["Alternative titles", "CHARCOT-MARIE-TOOTH DISEASE, WITH FOCALLY FOLDED MYELIN SHEATHS, AUTOSOMAL RECESSIVE, TYPE 4B2", "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4B2"]} |
Inflammatory skin disease with redness and scaling
Erythroderma
Other namesExfoliative dermatitis, Dermatitis exfoliativa
Red skin syndrome
SpecialtyDermatology
Erythroderma is an inflammatory skin disease with redness and scaling that affects nearly the entire cutaneous surface.[1][2] This term applies w... | Erythroderma | c0011606 | 7,433 | wikipedia | https://en.wikipedia.org/wiki/Erythroderma | 2021-01-18T18:40:10 | {"gard": ["6393"], "mesh": ["D003873"], "umls": ["C0011606"], "icd-9": ["695.9"], "icd-10": ["L26"], "wikidata": ["Q1363741"]} |
A rare syndrome characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion.
## Epidemiology
Gitelman syndrome (GS) prevalence is estimated at 1 to 10 per 40,000 and potentially higher in Asia. GS is arguably the most frequent inherited tubul... | Gitelman syndrome | c0268450 | 7,434 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=358 | 2021-01-23T18:39:01 | {"gard": ["8547"], "mesh": ["D053579"], "omim": ["263800"], "umls": ["C0268450"], "icd-10": ["N15.8"], "synonyms": ["Primary renal tubular hypokalemic hypomagnesemia with hypocalciuria"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive familial adenomatous polyposis-2 (FAP2) is caused by homozygous or compound heterozygous mutation in the MUTYH (MYH) gene (604933) on chromosome 1p34.
Description
Autosomal recessive colorectal adenomatous polyposis is a disorder... | FAMILIAL ADENOMATOUS POLYPOSIS 2 | c2674616 | 7,435 | omim | https://www.omim.org/entry/608456 | 2019-09-22T16:07:52 | {"doid": ["0080410"], "mesh": ["C538265"], "omim": ["608456"], "orphanet": ["220460", "247798"], "synonyms": ["Alternative titles", "COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE", "ADENOMAS, MULTIPLE COLORECTAL, AUTOSOMAL RECESSIVE"], "genereviews": ["NBK107219"]} |
A number sign (#) is used with this entry because malonyl-CoA decarboxylase deficiency is caused by homozygous or compound heterozygous mutation in the MLYCD gene (606761) on chromosome 16q23.
Description
Malonyl-CoA decarboxylase deficiency is an uncommon inherited metabolic disease. The characteristic phenotype i... | MALONYL-CoA DECARBOXYLASE DEFICIENCY | c0342793 | 7,436 | omim | https://www.omim.org/entry/248360 | 2019-09-22T16:25:41 | {"mesh": ["C535702"], "omim": ["248360"], "orphanet": ["943"]} |
Glucose-6-phosphate dehydrogenase deficiency is a genetic disorder that occurs almost exclusively in males. This condition mainly affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. In affected individuals, a defect in an enzyme called glucose-6-phosphate dehydrogenase causes re... | Glucose-6-phosphate dehydrogenase deficiency | c4016516 | 7,437 | medlineplus | https://medlineplus.gov/genetics/condition/glucose-6-phosphate-dehydrogenase-deficiency/ | 2021-01-27T08:25:50 | {"gard": ["6520"], "omim": ["305900"], "synonyms": []} |
Chancroid is a bacterial infection that is spread through sexual contact. It is caused by a type of bacteria called Haemophilus ducreyi. Chancroid is characterized by a small bump on the genital which becomes a painful ulcer. Men may have just one ulcer, but women often develop four or more. About half of the people ... | Chancroid | c0007947 | 7,438 | gard | https://rarediseases.info.nih.gov/diseases/9522/chancroid | 2021-01-18T18:01:32 | {"mesh": ["D002602"], "umls": ["C0007947"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that Adie pupil is a characteristic of Charcot-Marie-Tooth disease type 2J (607736), which is caused by mutation in the MPZ gene (159440).
Adie (1932) described a stationary, benign disorder characterized by tonic, sluggishly reacting pupil and hypoactive... | ADIE PUPIL | c0001519 | 7,439 | omim | https://www.omim.org/entry/103100 | 2019-09-22T16:45:17 | {"doid": ["11549"], "mesh": ["D000270"], "omim": ["103100"], "icd-9": ["379.46"], "icd-10": ["H57.05"], "orphanet": ["454718"], "synonyms": ["Alternative titles", "ADIE SYNDROME", "POORLY REACTING PUPILS"]} |
This article is about theileriosis caused by Theileria parva in cattle. For diseases caused by other Theileria species, see Theileriosis (disambiguation).
Kinete stage of Theileria parva in the transmitting tick Rhipicephalus appendiculatus
Brisket -edema-in theileriosis by Mitun Sarkar
East Coast fever, also know... | East Coast fever | c0039753 | 7,440 | wikipedia | https://en.wikipedia.org/wiki/East_Coast_fever | 2021-01-18T18:56:03 | {"mesh": ["D013801"], "umls": ["C0039753"], "wikidata": ["Q481392"]} |
Binge drinking
1912 U.S. Happy New Year postcard
SpecialtyPsychiatry
Binge drinking, or heavy episodic drinking, is a modern epithet for drinking alcoholic beverages with an intention of becoming intoxicated by heavy consumption of alcohol over a short period of time, but definitions (see below) vary conside... | Binge drinking | None | 7,441 | wikipedia | https://en.wikipedia.org/wiki/Binge_drinking | 2021-01-18T19:07:46 | {"mesh": ["D063425"], "icd-9": ["305"], "icd-10": ["F10"], "wikidata": ["Q1521260"]} |
A number sign (#) is used with this entry because autosomal dominant deafness-11 (DFNA11) is caused by heterozygous mutation in the gene encoding myosin VIIA (MYO7A; 276903) on chromosome 11q13.
Autosomal recessive nonsyndromic deafness (DFNB2; 600060) and Usher syndrome type IB (276900) are allelic disorders.
... | DEAFNESS, AUTOSOMAL DOMINANT 11 | c1832475 | 7,442 | omim | https://www.omim.org/entry/601317 | 2019-09-22T16:15:09 | {"doid": ["0110543"], "mesh": ["C563353"], "omim": ["601317"], "orphanet": ["90635"], "synonyms": ["Autosomal dominant isolated neurosensory deafness type DFNA", "Autosomal dominant isolated neurosensory hearing loss type DFNA", "Autosomal dominant isolated sensorineural deafness type DFNA", "Autosomal dominant isolate... |
Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base.
## Epidemiology
The annual incidence is 1/4,000 to 1/10,000 births with major variation occurring between geographic locations and ethnic groups. Cleft lip is twice as common in boys as girls and is seen more frequently... | Isolated cleft lip | c0008924 | 7,443 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=199302 | 2021-01-23T17:27:32 | {"mesh": ["D002971"], "omim": ["119530", "129400", "225060", "600757", "602966", "608371", "608874", "610361", "612858"], "umls": ["C0008924"], "icd-10": ["Q36.0", "Q36.1", "Q36.9"]} |
ROHHAD
Other namesROHHADNET
A photograph of a child who has been diagnosed with ROHHAD
Symptomsrapid onset obesity, hypothalamic dysfunction, hypoventilation, autonomic dysfunction, neuroendocrine tumors, behavior problems
Usual onset1.5-11 years of age
Causesunknown
PrognosisLife Limiting
Frequency158 ... | ROHHAD | c4053506 | 7,444 | wikipedia | https://en.wikipedia.org/wiki/ROHHAD | 2021-01-18T18:33:59 | {"gard": ["10407"], "umls": ["C4053506"], "orphanet": ["293987"], "wikidata": ["Q4420133"]} |
A number sign (#) is used with this entry because of evidence that Bartsocas-Papas syndrome (BPS), also known as the lethal type of popliteal pterygium syndrome, is caused by homozygous mutation in the RIPK4 gene (605706) on chromosome 21q22.
Biallelic mutation in the RIPK4 gene can also cause CHAND syndrome (CHANDS... | BARTSOCAS-PAPAS SYNDROME | c1849718 | 7,445 | omim | https://www.omim.org/entry/263650 | 2019-09-22T16:23:15 | {"doid": ["0060055"], "mesh": ["C564874"], "omim": ["263650"], "orphanet": ["1234"], "synonyms": ["Alternative titles", "POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE", "PTERYGIUM, POPLITEAL, LETHAL TYPE", "MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE"]} |
Pelger–Huët anomaly
Other namesPHA[1]
blood smear of a patient with myelodysplastic syndrome: red blood cells showing marked poikilocytosis, in part related to post-splenectomy status, and central a hypogranular neutrophil with a pseudo-Pelger-Huet nucleus.
Pronunciation
* US: /ˈpɛlɡər ˈhuːɛt/
Dutch pronun... | Pelger–Huët anomaly | c0030779 | 7,446 | wikipedia | https://en.wikipedia.org/wiki/Pelger%E2%80%93Hu%C3%ABt_anomaly | 2021-01-18T18:51:59 | {"gard": ["9148"], "mesh": ["D010381"], "umls": ["C0030779", "C4023351"], "icd-9": ["288.2"], "icd-10": ["D72.0"], "wikidata": ["Q975182"]} |
Cystic fibrosis-gastritis-megaloblastic anemia, or Lubani-Al Saleh-Teebi syndrome, is a rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disa... | Cystic fibrosis-gastritis-megaloblastic anemia syndrome | c2931402 | 7,447 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2575 | 2021-01-23T17:30:56 | {"gard": ["3303"], "mesh": ["C537039"], "omim": ["219721"], "umls": ["C2931402"], "synonyms": ["Lubani-Al Saleh-Teebi syndrome"]} |
Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (P... | Pseudohypoparathyroidism | c0033806 | 7,448 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=97593 | 2021-01-23T16:54:25 | {"gard": ["10758"], "mesh": ["D011547"], "umls": ["C0033806"], "icd-10": ["E20.1"]} |
Eruptive pseudoangiomatosis
SpecialtyDermatology
Eruptive pseudoangiomatosis is a cutaneous condition characterized by the sudden appearance of 2- to 4-mm blanchable red papules.[1]:399
It can appear in children or adults.[2]
The papules appear similar to hemangiomas[3] (hence the name).
Viruses found in pa... | Eruptive pseudoangiomatosis | c2242648 | 7,449 | wikipedia | https://en.wikipedia.org/wiki/Eruptive_pseudoangiomatosis | 2021-01-18T19:01:59 | {"umls": ["C2242648"], "wikidata": ["Q17120185"]} |
A number sign (#) is used with this entry because of evidence that an autosomal dominant form of Bernard-Soulier syndrome can be caused by heterozygous mutations in the gene encoding platelet glycoprotein Ib-alpha (GP1BA; 606672) on chromosome 17p.
Homozygous or compound heterozygous mutations in the GP1BA gene ... | BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT | c0005129 | 7,450 | omim | https://www.omim.org/entry/153670 | 2019-09-22T16:38:41 | {"doid": ["0111059"], "mesh": ["D001606"], "omim": ["153670"], "orphanet": ["274"]} |
Hyperandrogenism
Other namesAndrogen excess
Testosterone is a type of androgen that is important in the development of hyperandrogenism since high levels of it can cause this condition.
Pronunciation
* 'hīpər'andrəjənizəm
SpecialtyEndocrinology
SymptomsAcne, hair loss on scalp, increased body or fa... | Hyperandrogenism | c0206081 | 7,451 | wikipedia | https://en.wikipedia.org/wiki/Hyperandrogenism | 2021-01-18T18:56:17 | {"mesh": ["D017588"], "umls": ["C0206081"], "icd-10": ["E28.1"], "wikidata": ["Q10529545"]} |
## Clinical Features
Efe Pygmies from the Ituri forest of northeast Zaire have the shortest mean adult stature of any population on earth, with a mean adult male height of 4 feet, 8 inches, and a mean adult female height of 4 feet, 5 inches (Diamond, 1991).
Biochemical Features
Rimoin et al. (1969) found that... | PYGMY | c1849524 | 7,452 | omim | https://www.omim.org/entry/265850 | 2019-09-22T16:22:58 | {"omim": ["265850"], "synonyms": ["Alternative titles", "PYGMY, AFRICAN"]} |
Klumpke's paralysis
Other namesKlumpke's palsy, Dejerine–Klumpke palsy
Brachial plexus. Klumpke paralysis primarily affects C8 and T1.
SpecialtyNeurology
Klumpke's paralysis is a variety of partial palsy of the lower roots of the brachial plexus.[1][2] The brachial plexus is a network of spinal nerves that... | Klumpke paralysis | c0270898 | 7,453 | wikipedia | https://en.wikipedia.org/wiki/Klumpke_paralysis | 2021-01-18T19:06:45 | {"gard": ["3123"], "mesh": ["D020516"], "umls": ["C0270898"], "icd-9": ["767.6"], "icd-10": ["P14.1"], "wikidata": ["Q2336817"]} |
Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait.
*[v]: View this template
*[t]: D... | Cataract-hypertrichosis-intellectual disability syndrome | c0796282 | 7,454 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1375 | 2021-01-23T19:01:03 | {"mesh": ["C537959"], "omim": ["211770"], "umls": ["C0796282"], "icd-10": ["Q87.8"], "synonyms": ["CAHMR syndrome"]} |
## Clinical Features
Mondino and Brown (1976) described a family of Irish descent in which 5 persons in 4 generations showed markedly deficient lacrimation from infancy and punctate corneal epithelial erosions. Male-to-male transmission was observed. Hypoplasia of the lacrimal glands was suggested by pharmacologic ... | ALACRIMA, CONGENITAL, AUTOSOMAL DOMINANT | c1863199 | 7,455 | omim | https://www.omim.org/entry/103420 | 2019-09-22T15:41:19 | {"mesh": ["C566307"], "omim": ["103420"], "orphanet": ["91416"], "synonyms": ["Alternative titles", "ALACRIMIA CONGENITA, AUTOSOMAL DOMINANT"]} |
For other uses, see Red eye (disambiguation).
This article may be too technical for most readers to understand. Please help improve it to make it understandable to non-experts, without removing the technical details. (April 2012) (Learn how and when to remove this template message)
Red eye
Subconjunctival hem... | Red eye (medicine) | c0235267 | 7,456 | wikipedia | https://en.wikipedia.org/wiki/Red_eye_(medicine) | 2021-01-18T18:37:31 | {"umls": ["C0235267"], "icd-9": ["379.93"], "icd-10": ["H57.9"], "wikidata": ["Q2610154"]} |
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by mild global developmental delay, intellectual disability or learning difficulties, behavioral problems (like autistic, hyperactive, or aggressive behavior), variable dysmorphic craniofacial features, and abnorma... | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | c4310740 | 7,457 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=476126 | 2021-01-23T17:26:32 | {"omim": ["617061"]} |
Spinocerebellar ataxia 13 (SCA13) is a rare sub-type of spinocerebellar ataxias (SCA), a group of neurological diseases that causes degeneration of the brain and spinal cord. The age when symptoms begin and the type and severity of symptoms of SCA13 can be different from person to person even in the same family. In a... | Spinocerebellar ataxia 13 | c1854488 | 7,458 | gard | https://rarediseases.info.nih.gov/diseases/9611/spinocerebellar-ataxia-13 | 2021-01-18T17:57:37 | {"mesh": ["C537195"], "omim": ["605259"], "umls": ["C1854488"], "orphanet": ["98768"], "synonyms": ["SCA13", "Spinocerebellar ataxia type 13", "Cerebellar ataxia, autosomal dominant with mental retardation", "Autosomal dominant cerebellar ataxia with mental retardation"]} |
A rare mycosis characterized by granulomatous inflammation primarily of the lung after inhalation of spores of Histoplasma capsulatum. The severity of clinical disease depends on the immune status of the individual and the size of the inoculum. In immunocompetent persons, the infection usually takes a self-limiting a... | Histoplasmosis | c0019655 | 7,459 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=390 | 2021-01-23T19:03:27 | {"mesh": ["D006660"], "umls": ["C0019655", "C0153261"], "icd-10": ["B39.0", "B39.1", "B39.2", "B39.3", "B39.4", "B39.5", "B39.9"], "synonyms": ["Darling disease"]} |
Chronic graft versus host disease (GVHD) is a complication that can occur after a stem cell or bone marrow transplant in which the newly transplanted donor cells attack the transplant recipient's body. Symptoms may include skin rash, mouth sores, dry eyes, liver inflammation, development of scar tissue in the skin an... | Chronic graft versus host disease | c0867389 | 7,460 | gard | https://rarediseases.info.nih.gov/diseases/10964/chronic-graft-versus-host-disease | 2021-01-18T18:01:18 | {"synonyms": ["Chronic GVHD"]} |
A number sign (#) is used with this entry because of evidence that intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) is caused by heterozygous mutation in the FBXO11 gene (607871) on chromosome 2p16.
Clinical Features
Gregor et al. (2018) reported 18 unrelated patients... | INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES | None | 7,461 | omim | https://www.omim.org/entry/618089 | 2019-09-22T15:43:45 | {"omim": ["618089"]} |
Glycogen storage disease type VII (GSDVII) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of muscle cells.
There are four types of GSDVII. They are differentiated by their signs and symptoms and ... | Glycogen storage disease type VII | c0017926 | 7,462 | medlineplus | https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-vii/ | 2021-01-27T08:25:19 | {"gard": ["5686"], "mesh": ["D006014"], "omim": ["232800"], "synonyms": []} |
Khosravi et al. (1998) described 3 sibs (2 males, 1 female) with multiple congenital anomalies, poor growth, seizures, and progressive central nervous system degeneration leading to death in infancy. Radiographic changes were similar and included moderate shortness of long bones, platyspondyly, and hypoplastic pelvis... | SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION, LETHAL | c1865117 | 7,463 | omim | https://www.omim.org/entry/602613 | 2019-09-22T16:13:34 | {"mesh": ["C566514"], "omim": ["602613"]} |
Septo-optic dysplasia
Other namesde Morsier syndrome[1][2]
The optic nerve is underdeveloped in this condition
SpecialtyOphthalmology
Septo-optic dysplasia (SOD), known also as de Morsier syndrome, is a rare congenital malformation syndrome that features a combination of the underdevelopment of the optic n... | Septo-optic dysplasia | c0338503 | 7,464 | wikipedia | https://en.wikipedia.org/wiki/Septo-optic_dysplasia | 2021-01-18T18:28:38 | {"gard": ["7627"], "mesh": ["D025962"], "umls": ["C0338503"], "icd-9": ["742.2"], "orphanet": ["3157"], "wikidata": ["Q2756703"]} |
Donohue syndrome
insulin receptor
SpecialtyEndocrinology, rheumatology, medical genetics
Donohue syndrome (also known as leprechaunism) is an extremely rare and severe genetic disorder. Leprechaunism derives its name from the hallmark elvish features (small stature, bulging eyes, thick lips, and upturned... | Donohue syndrome | c0271695 | 7,465 | wikipedia | https://en.wikipedia.org/wiki/Donohue_syndrome | 2021-01-18T18:28:00 | {"gard": ["6885"], "mesh": ["D056731"], "umls": ["C0271695", "C0265344"], "orphanet": ["508"], "wikidata": ["Q2467739"]} |
Pseudoxanthoma elasticum
Other namesGrönblad–Strandberg syndrome;[1] Groenblad-Strandberg syndrome
Pseudoxanthoma elasticum of the posterior lateral neck. Note the yellowish slightly raised bumps characteristic of this condition.
SpecialtyMedical genetics
Pseudoxanthoma elasticum (PXE) is a genetic dis... | Pseudoxanthoma elasticum | c3279393 | 7,466 | wikipedia | https://en.wikipedia.org/wiki/Pseudoxanthoma_elasticum | 2021-01-18T18:29:41 | {"gard": ["9643"], "mesh": ["D011561"], "umls": ["C3279393", "C0376359", "C3279392"], "orphanet": ["758"], "wikidata": ["Q1052391"]} |
A number sign (#) is used with this entry because of evidence that Perrault syndrome-2 (PRLTS2) is caused by compound heterozygous mutation in the HARS2 gene (600783) on chromosome 5q31. One such family has been reported.
Description
Perrault syndrome-2 is an autosomal recessive disorder characterized by sensor... | PERRAULT SYNDROME 2 | c0685838 | 7,467 | omim | https://www.omim.org/entry/614926 | 2019-09-22T15:53:46 | {"doid": ["0050857"], "mesh": ["C537286"], "omim": ["614926"], "orphanet": ["2855"], "genereviews": ["NBK242617"]} |
Familial thoracic aortic aneurysm and dissection (familial TAAD) involves problems with the aorta, which is the large blood vessel that distributes blood from the heart to the rest of the body. Familial TAAD affects the upper part of the aorta, near the heart. This part of the aorta is called the thoracic aorta becau... | Familial thoracic aortic aneurysm and dissection | c0392775 | 7,468 | medlineplus | https://medlineplus.gov/genetics/condition/familial-thoracic-aortic-aneurysm-and-dissection/ | 2021-01-27T08:25:41 | {"gard": ["2249"], "mesh": ["C536230"], "omim": ["607086", "607087", "132900", "611788", "613780", "615436"], "synonyms": []} |
Lhermitte-Duclos disease (LDD) is a very rare, benign (non-cancerous) brain tumor, called a dysplastic gangliocytoma of the cerebellum, that is characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure. LDD manifests most commonly in the third and fourth decades o... | Lhermitte-Duclos disease | c0391826 | 7,469 | gard | https://rarediseases.info.nih.gov/diseases/6901/lhermitte-duclos-disease | 2021-01-18T17:59:25 | {"mesh": ["D006223"], "omim": ["158350"], "umls": ["C0391826"], "orphanet": ["65285"], "synonyms": ["Dysplastic gangliocytoma of the cerebellum"]} |
For a phenotypic description and a discussion of genetic heterogeneity of bipolar disorder, see 125480.
Mapping
Ferreira et al. (2008) tested 1.8 million variants in 4,387 cases of bipolar disorder and 6,209 controls from 3 independent samples and identified a region of strong association with SNP rs1006737 in the ... | MAJOR AFFECTIVE DISORDER 9 | c2700440 | 7,470 | omim | https://www.omim.org/entry/612372 | 2019-09-22T16:01:40 | {"mesh": ["C567531"], "omim": ["612372"], "synonyms": ["Alternative titles", "BIPOLAR AFFECTIVE DISORDER"]} |
A rare neurologic disease characterized by an unremitting bilateral symmetrical burning sensation of the oral mucosa without clinical evidence of causative lesions. It most frequently occurs in postmenopausal women and typically affects the tongue, less often the palate, lips, or buccal mucosa. It is often associated... | Burning mouth syndrome | c0006430 | 7,471 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=353253 | 2021-01-23T18:44:03 | {"gard": ["5974"], "mesh": ["D002054"], "umls": ["C0006430", "C2930806"], "icd-10": ["K14.6"], "synonyms": ["BMS", "Oral dysesthesia", "Orodynia", "Stomatodynia", "Stomatopyrosis"]} |
A rare joint formation defect characterized by a bony connection between the humerus and the ulna, resulting in fixed flexion of the forearm, usually near 90°. The condition may be associated with upper limb hypoplasia. It may be sporadic or familial and occur uni- or bilaterally.
*[v]: View this template
*[t]: ... | Humero-ulnar synostosis | c0431799 | 7,472 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=94056 | 2021-01-23T17:26:50 | {"umls": ["C0431799"], "icd-10": ["Q74.0"], "synonyms": ["Humero-ulnar fusion"]} |
A number sign (#) is used with this entry because mitochondrial phosphate carrier deficiency can be caused by mutation in the SLC25A3 gene (600370).
Clinical Features
Mayr et al. (2007) described 2 sisters, offspring of nonconsanguineous Turkish parents, with mitochondrial phosphate carrier deficiency. The younger ... | MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY | c1835845 | 7,473 | omim | https://www.omim.org/entry/610773 | 2019-09-22T16:04:05 | {"mesh": ["C563665"], "omim": ["610773"], "orphanet": ["91130"], "synonyms": ["Alternative titles", "MPCD"]} |
Halogenoderma
SpecialtyDermatology
Halogenodermas are skin eruptions that result after exposure to halogen-containing drugs or substances. This may last several weeks after drug use is discontinued. This is because of the slow elimination rate of iodides and bromides.[1] Fluoroderma is a particular type of hal... | Halogenoderma | c1274946 | 7,474 | wikipedia | https://en.wikipedia.org/wiki/Halogenoderma | 2021-01-18T18:41:53 | {"umls": ["C1274946"], "wikidata": ["Q5643382"]} |
Prader-Willi syndrome (PWS) is a genetic condition that affects many parts of the body. Infants with PWS have severe hypotonia (low muscle tone), feeding difficulties, and slow growth. In later infancy or early childhood, affected children typically begin to eat excessively and become obese. Other signs and sympt... | Prader-Willi syndrome | c0032897 | 7,475 | gard | https://rarediseases.info.nih.gov/diseases/5575/prader-willi-syndrome | 2021-01-18T17:58:13 | {"mesh": ["D011218"], "omim": ["176270"], "umls": ["C0032897"], "orphanet": ["739"], "synonyms": ["PWS", "Willi-Prader syndrome", "Prader-Labhart-Willi syndrome", "Obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet"]} |
Behavioral disorder in which an adult fakes an illness in another, most commonly their child
Factitious disorder imposed on another
Other namesFactitious disorder by proxy, Munchausen syndrome by proxy (MSbP, MbP), fabricated or induced illness by carers (FII), medical child abuse
Overview of factitious disorder... | Factitious disorder imposed on another | c0085277 | 7,476 | wikipedia | https://en.wikipedia.org/wiki/Factitious_disorder_imposed_on_another | 2021-01-18T18:35:48 | {"gard": ["7117"], "mesh": ["D016735"], "umls": ["C0085277"], "wikidata": ["Q1414765"]} |
Homocystinuria
Other namesCystathionine beta synthase deficiency or CBS deficiency[1]
Homocysteine
SpecialtyEndocrinology, medical genetics
Homocystinuria or HCU[2] is an inherited disorder of the metabolism of the amino acid methionine due to a deficiency of cystathionine beta synthase or methionine synth... | Homocystinuria | c0019880 | 7,477 | wikipedia | https://en.wikipedia.org/wiki/Homocystinuria | 2021-01-18T19:01:19 | {"gard": ["10770"], "mesh": ["D006712"], "umls": ["C0019880"], "icd-9": ["270.4"], "orphanet": ["394"], "wikidata": ["Q994859"]} |
A rare staphylococcal toxemia caused by epidermolytic toxins of Staphylococcus aureus and characterized by the appearance of widespread erythematous patches, on which large blisters develop. Upon rupture of these blisters, the skin appears reddish and scalded. The lesions typically begin in the face and rapidly e... | Staphylococcal scalded skin syndrome | c0038165 | 7,478 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=36236 | 2021-01-23T18:54:22 | {"mesh": ["D013206"], "umls": ["C0038165"], "icd-10": ["L00"], "synonyms": ["Generalized exfoliative disease", "SSSS"]} |
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This article needs attention from an expert in Medicine. Please add a reason or a talk parameter to this template to explain the issue with the article. WikiProjec... | Physical disorder | c0683323 | 7,479 | wikipedia | https://en.wikipedia.org/wiki/Physical_disorder | 2021-01-18T18:30:12 | {"wikidata": ["Q30314000"]} |
Intra-operative gross photograph of the spleen attached to the left testis in a 1-year old boy with splenogonadal fusion
Splenogonadal fusion is a rare congenital malformation that results from an abnormal connection between the primitive spleen and gonad during gestation. A portion of the splenic tissue then descen... | Splenogonadal fusion | c0266636 | 7,480 | wikipedia | https://en.wikipedia.org/wiki/Splenogonadal_fusion | 2021-01-18T18:55:47 | {"orphanet": ["457083"], "synonyms": ["SGF"], "wikidata": ["Q7578553"]} |
Porcine orthorubulavirus
Virus classification
(unranked): Virus
Realm: Riboviria
Kingdom: Orthornavirae
Phylum: Negarnaviricota
Class: Monjiviricetes
Order: Mononegavirales
Family: Paramyxoviridae
Genus: Orthorubulavirus
Species:
Porcine orthorubulavirus
Member virus[1]
* La-P... | Blue eye disease | None | 7,481 | wikipedia | https://en.wikipedia.org/wiki/Blue_eye_disease | 2021-01-18T18:32:19 | {"wikidata": ["Q4929100"]} |
A rare genetic syndromic intellectual disability characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, coarse facial features, and other variable clinical manifestations.
## Epidemiology
More than 150 cases of genetically confirmed Coffin-Siris syndrome (C... | Coffin-Siris syndrome | c0265338 | 7,482 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1465 | 2021-01-23T17:23:20 | {"gard": ["6124"], "mesh": ["C536436"], "omim": ["135900", "614607", "614608", "614609", "615866", "616938", "617808", "618027", "618362", "618779"], "umls": ["C0265338"], "icd-10": ["Q87.1"], "synonyms": ["CSS"]} |
Shoulder injury
This article relies largely or entirely on a single source. Relevant discussion may be found on the talk page. Please help improve this article by introducing citations to additional sources.
Find sources: "Glenolabral articular disruption" – news · newspapers · books · scholar · JSTOR (April 2014)... | Glenolabral articular disruption | None | 7,483 | wikipedia | https://en.wikipedia.org/wiki/Glenolabral_articular_disruption | 2021-01-18T18:30:28 | {"wikidata": ["Q16004474"]} |
Purine nucleoside phosphorylase deficiency
Other namesPNP-deficiency
Purine nucleoside phosphorylase deficiency has an autosomal recessive pattern of inheritance
TreatmentAllegeneic hemotopoietic stem cell transplantation (HSCT)
Purine nucleoside phosphorylase deficiency, is a rare autosomal recessive[... | Purine nucleoside phosphorylase deficiency | c0268125 | 7,484 | wikipedia | https://en.wikipedia.org/wiki/Purine_nucleoside_phosphorylase_deficiency | 2021-01-18T19:06:50 | {"gard": ["4606"], "mesh": ["C562587"], "umls": ["C0268125"], "icd-9": ["277.2"], "orphanet": ["760"], "wikidata": ["Q3043155"]} |
North Carolina macular dystrophy (NCMD) is an inherited eye disorder that affects the development of the macula, the small, but important part of the eye located in the center of the retina. The macula allows a person to see fine details and do tasks that require central vision, such as reading and driving. It is... | North Carolina macular dystrophy | c0730294 | 7,485 | gard | https://rarediseases.info.nih.gov/diseases/9179/north-carolina-macular-dystrophy | 2021-01-18T17:58:39 | {"mesh": ["C537835"], "omim": ["136550"], "umls": ["C0730294"], "orphanet": ["75327"], "synonyms": ["NCMD", "Macular dystrophy retinal 1 North Carolina type", "MCDR1", "Central areolar pigment epithelial dystrophy", "CAPED", "Retinal pigment epithelial dystrophy central", "Foveal dystrophy progressive"]} |
Underterminate colitis designates a rare inflammatory bowel disease that clinically resembles Crohn’s disease and ulcerative colitis (see these terms) but that cannot be diagnosed as one of them after examination of an intestinal resection specimen.
*[v]: View this template
*[t]: Discuss this template
*[e]: Ed... | Undetermined colitis | None | 7,486 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=103920 | 2021-01-23T17:46:15 | {"icd-10": ["K52.3"]} |
## Description
Restless legs syndrome (RLS) is a neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. The disorder results in nocturnal insomnia and chronic sleep deprivation (Bona... | RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 4 | c1864874 | 7,487 | omim | https://www.omim.org/entry/610439 | 2019-09-22T16:04:39 | {"omim": ["610439"]} |
Pseudotyphus of California is a rare, flea-borne Rickettsial disease caused by a Rickettsia felis infection. Patients can be asymptomatic or can present with unspecific symptoms (such as fever, headache, generalized maculopapular rash, myalgia, arthralgia and, ocasionally, eschar, lymphadenopathy, nausea, vomiting, ... | Pseudotyphus of California | c4706680 | 7,488 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=83316 | 2021-01-23T16:54:22 | {"icd-10": ["A79.8"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive deafness-1A (DFNB1A) is caused by homozygous or compound heterozygous mutation in the GJB2 gene (121011), which encodes the gap junction protein connexin-26 (CX26), on chromosome 13q12.
Autosomal dominant deafness-3A (DFNA3A; 6015... | DEAFNESS, AUTOSOMAL RECESSIVE 1A | c2673761 | 7,489 | omim | https://www.omim.org/entry/220290 | 2019-09-22T16:28:59 | {"doid": ["0110475"], "mesh": ["C567134"], "omim": ["220290"], "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... |
Schizophrenia is a brain disorder classified as a psychosis, which means that it affects a person's thinking, sense of self, and perceptions. The disorder typically becomes evident during late adolescence or early adulthood.
Signs and symptoms of schizophrenia include false perceptions called hallucinations. Auditor... | Schizophrenia | c0036341 | 7,490 | medlineplus | https://medlineplus.gov/genetics/condition/schizophrenia/ | 2021-01-27T08:25:12 | {"mesh": ["D012559"], "omim": ["181500"], "synonyms": []} |
A number sign (#) is used with this entry because alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus (CMV) infection, and autoimmunity is caused by mutations in the RAG1 gene (179615). Mutations in the RAG1 gene also cause T cell-negative, B cell-negative, natural killer (NK) cell... | ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY | c1835931 | 7,491 | omim | https://www.omim.org/entry/609889 | 2019-09-22T16:05:30 | {"mesh": ["C563691"], "omim": ["609889"], "orphanet": ["231154"]} |
Chester porphyria is a unique type of porphyria with the signs and symptoms of acute intermittent porphyria (AIP) and the biochemical defects of both AIP and variegate porphyria (VP). Chester porphyria does not conform to any of the recognized types of acute porphyria. The symptoms associated with Chester porphyria a... | Chester porphyria | c0268322 | 7,492 | gard | https://rarediseases.info.nih.gov/diseases/10185/chester-porphyria | 2021-01-18T18:01:30 | {"mesh": ["C536341"], "omim": ["176010"], "umls": ["C0268322"], "synonyms": ["Porphyria, Chester type", "PORC"]} |
Straddling or overriding tricuspid valve is a rare, congenital, tricuspid valve malformation characterized by the tricuspid valve that overrides the ventricular septum and communicates with both ventricles, as part of the tension apparatus of the valve crosses the ventricular septal defect and is attached in the left... | Straddling or overriding tricuspid valve | None | 7,493 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=95461 | 2021-01-23T16:56:08 | {"icd-10": ["Q22.8"]} |
## Summary
### Clinical characteristics.
All FOXP2-related speech and language disorders, regardless of the underlying genetic alteration, have a core phenotype: childhood apraxia of speech (CAS), a disorder of speech motor programming or planning that affects the production, sequencing, timing, and stress of sound... | FOXP2-Related Speech and Language Disorders | None | 7,494 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK368474/ | 2021-01-18T21:27:20 | {"synonyms": []} |
Lowe syndrome is a condition that primarily affects the eyes, brain, and kidneys. This disorder occurs almost exclusively in males.
Infants with Lowe syndrome are born with thick clouding of the lenses in both eyes (congenital cataracts), often with other eye abnormalities that can impair vision. About half of affec... | Lowe syndrome | c0028860 | 7,495 | medlineplus | https://medlineplus.gov/genetics/condition/lowe-syndrome/ | 2021-01-27T08:25:07 | {"gard": ["3295"], "mesh": ["D009800"], "omim": ["309000"], "synonyms": []} |
A rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage along with joint, ocular and cardiovascular involvement.
## Epidemiology
The prevalence and annual incidence of Relapsing polychondritis (R... | Relapsing polychondritis | c0032453 | 7,496 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=728 | 2021-01-23T17:18:13 | {"gard": ["7417"], "mesh": ["D011081"], "umls": ["C0032453"], "icd-10": ["M94.1"], "synonyms": ["Polychondropathia"]} |
A lysosomal storage disease belonging to the group of sphingolipidoses.
## Epidemiology
It is very rare with less than 10 cases reported in the literature so far.
## Clinical description
Clinically, it is a severe neurovisceral disease manifesting immediately after birth and following a rapidly progressive fatal ... | Encephalopathy due to prosaposin deficiency | c2673635 | 7,497 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=139406 | 2021-01-23T18:51:02 | {"gard": ["12505"], "mesh": ["C567125"], "omim": ["611721"], "icd-10": ["E75.2"], "synonyms": ["Combined prosaposin deficiency"]} |
Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they... | Maffucci syndrome | c0024454 | 7,498 | medlineplus | https://medlineplus.gov/genetics/condition/maffucci-syndrome/ | 2021-01-27T08:25:51 | {"gard": ["6958"], "mesh": ["D004687"], "omim": ["614569"], "synonyms": []} |
Glycogenic acanthosis
Endoscopic image of glycogenic acanthosis found incidentally
SpecialtyGastroenterology
Glycogenic acanthosis are small raised white plaques commonly seen in the esophageal mucosa.[1] It is seen incidentally in 3.5% of gastroscopies.[2]
## Contents
* 1 Signs and symptoms
* 2 Diagno... | Glycogenic acanthosis | c1963768 | 7,499 | wikipedia | https://en.wikipedia.org/wiki/Glycogenic_acanthosis | 2021-01-18T18:29:02 | {"umls": ["C1963768"], "wikidata": ["Q5572612"]} |
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