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A rare genetic disease characterized by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature graying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome.
*[v]: View t... | Sensorineural hearing loss-early graying-essential tremor syndrome | None | 7,700 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=66633 | 2021-01-23T17:12:55 | {"synonyms": ["Sensorineural deafness-early graying-essential tremor syndrome"]} |
A number sign (#) is used with this entry because Peutz-Jeghers syndrome (PJS) is caused by heterozygous mutation in the serine/threonine kinase STK11 gene (602216) on chromosome 19p13.
Description
Peutz-Jeghers syndrome is an autosomal dominant disorder characterized by melanocytic macules of the lips, buccal muco... | PEUTZ-JEGHERS SYNDROME | c0031269 | 7,701 | omim | https://www.omim.org/entry/175200 | 2019-09-22T16:36:00 | {"doid": ["3852"], "mesh": ["D010580"], "omim": ["175200"], "icd-10": ["Q85.8"], "orphanet": ["2869"], "synonyms": ["Alternative titles", "POLYPOSIS, HAMARTOMATOUS INTESTINAL", "POLYPS-AND-SPOTS SYNDROME"], "genereviews": ["NBK1266"]} |
Schrander-Stumpel et al. (1990) described newborn brother and sister who died shortly after birth from respiratory failure. They showed growth retardation with a Potter-like face, complete phocomelia of the upper limbs, severe hypoplasia of the 6 upper ribs, renal dysplasia and abnormalities of the external genitalia... | RENAL DYSPLASIA-LIMB DEFECTS SYNDROME | c1849438 | 7,702 | omim | https://www.omim.org/entry/266910 | 2019-09-22T16:22:47 | {"mesh": ["C537754"], "omim": ["266910"], "orphanet": ["3404"], "synonyms": ["Alternative titles", "RL SYNDROME"]} |
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome is a rare X-linked syndromic intellectual disability disorder characterized by profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age... | X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | c3550913 | 7,703 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=324410 | 2021-01-23T19:11:44 | {"omim": ["300886"]} |
Primary peritoneal carcinoma (PPC) is a rare malignant tumor of the peritoneal cavity of extra-ovarian origin, clinically and histologically similar to advanced-stage serous ovarian carcinoma (see this term).
## Epidemiology
PPC accounts for about 10% of pelvic serous carcinomas.
## Clinical description
It is alm... | Primary peritoneal carcinoma | c1514428 | 7,704 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=168829 | 2021-01-23T18:47:18 | {"icd-10": ["C48.2"], "synonyms": ["EOPPC", "Extra-ovarian primary peritoneal carcinoma", "PPC", "Primary peritoneal serous carcinoma", "Serous surface papillary carcinoma"]} |
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed.
Find sources: "CNS demyelinating autoimmune diseases" – n... | CNS demyelinating autoimmune diseases | c0751873 | 7,705 | wikipedia | https://en.wikipedia.org/wiki/CNS_demyelinating_autoimmune_diseases | 2021-01-18T18:46:57 | {"mesh": ["D020278"], "wikidata": ["Q5013186"]} |
Pauci-immune glomerulonephritis (GN) without antineutrophilic cytoplasmic antibodies (ANCA) is a form of rapidly progressive glomerulonephritis comprising 10-43% of pauci-immune glomerulonephritis (see this term) and characterized by the absence of ANCA. In comparison with pauci-immune GN with ANCA (see this term... | Pauci-immune glomerulonephritis without ANCA | None | 7,706 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=97564 | 2021-01-23T17:29:43 | {"icd-10": ["N05.7"], "synonyms": ["Antineutrophil cytoplasmic antibody-negative pauci-immune glomerulonephritis", "Pauci-immune glomerulonephritis without antineutrophil cytoplasmic antibody"]} |
Vitreoretinopathy may refer to:
* Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV), a rare inherited autoimmune uveitis, first identified in 1990
* Familial exudative vitreoretinopathy, a genetic eye disorder
* Proliferative vitreoretinopathy, a disease that develops as a complication to r... | Vitreoretinopathy | c1850109 | 7,707 | wikipedia | https://en.wikipedia.org/wiki/Vitreoretinopathy | 2021-01-18T19:08:16 | {"orphanet": ["98668"], "synonyms": [], "wikidata": ["Q7937231"]} |
Tropical theileriosis or Mediterranean theileriosis is a theileriosis of cattle from the Mediterranean and Middle East area, from Morocco to Western parts of India and China. It is a tick-borne disease, caused by Theileria annulata. The vector ticks are of the genus Hyalomma.
The most prominent symptoms are feve... | Tropical theileriosis | c0276858 | 7,708 | wikipedia | https://en.wikipedia.org/wiki/Tropical_theileriosis | 2021-01-18T18:54:08 | {"wikidata": ["Q6103315"]} |
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 2017)
This article does not cite any sources. Please help improve this article by adding citations to reliable sources. Unsourced material may b... | Suppurative granuloma | c3887677 | 7,709 | wikipedia | https://en.wikipedia.org/wiki/Suppurative_granuloma | 2021-01-18T18:36:10 | {"umls": ["C3887677"], "wikidata": ["Q7644427"]} |
Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegalo... | Hypertrichosis-acromegaloid facial appearance syndrome | c0268700 | 7,710 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=966 | 2021-01-23T18:35:05 | {"icd-10": ["Q87.0"], "synonyms": ["HAFF", "Hypertrichosis-acromegaloid facial features syndrome", "Hypertrichosis-coarse face syndrome"]} |
A number sign (#) is used with this entry because congenital secretory chloride diarrhea, referred to here as DIAR1, is caused by homozygous mutation in the SLC26A3 gene (126650) on chromosome 7q31.
Description
Congenital secretory chloride diarrhea is an autosomal recessive form of severe chronic diarrhea characte... | DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL | c0267662 | 7,711 | omim | https://www.omim.org/entry/214700 | 2019-09-22T16:29:46 | {"doid": ["0060296"], "mesh": ["C536210"], "omim": ["214700"], "orphanet": ["53689"], "synonyms": ["Alternative titles", "CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE", "CHLORIDORRHEA, CONGENITAL"]} |
X-linked Charcot-Marie-Tooth disease type 1 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset (within the first decade in males) of progressive, distal, moderate to severe muscle weakness and atrophy in lower extremities and intrin... | X-linked Charcot-Marie-Tooth disease type 1 | c0393808 | 7,712 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=101075 | 2021-01-23T17:30:36 | {"gard": ["1258"], "mesh": ["C535919"], "omim": ["302800"], "umls": ["C0393808"], "icd-10": ["G60.0"], "synonyms": ["CMT1X", "CMTX1"]} |
Spastic hemiplegia
Spastic hand
SpecialtyNeurology
Spastic hemiplegia is a neuromuscular condition of spasticity that results in the muscles on one side of the body being in a constant state of contraction. It is the "one-sided version" of spastic diplegia. It falls under the mobility impairment umbrella of ... | Spastic hemiplegia | c0154694 | 7,713 | wikipedia | https://en.wikipedia.org/wiki/Spastic_hemiplegia | 2021-01-18T18:40:51 | {"gard": ["10448"], "mesh": ["D006429"], "umls": ["C0154694"], "wikidata": ["Q7573994"]} |
A rare bone development disorder characterized by abnormal bowing of the ulna and subsequent non-healing fracture with formation of a false joint (pseudoarthrosis), instability and angulation at the pseudoarthrosis site, and shortening of the forearm. Additional signs and symptoms include concomitant bowing of th... | Congenital pseudoarthrosis of the ulna | None | 7,714 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=295026 | 2021-01-23T17:00:33 | {"icd-10": ["Q74.0"], "synonyms": ["Congenital pseudarthrosis of the ulna"]} |
Warmblood Fragile Foal Syndrome (WFFS) is a genetically induced disorder seen in horses. At first it was studied in Warmblood horses, but it is also present in Thoroughbreds, and potentially in any breed with Thoroughbred ancestry or outcrossing such as Quarter Horses, Standardbreds, and Morgans. It is autosomal rece... | Warmblood fragile foal syndrome | None | 7,715 | wikipedia | https://en.wikipedia.org/wiki/Warmblood_fragile_foal_syndrome | 2021-01-18T19:03:38 | {"wikidata": ["Q30314412"]} |
Synovial sarcoma is a rare and aggressive soft tissue sarcoma. In the early stages of the condition, it may cause no noticeable signs or symptoms. However, as the tumor grows larger, affected people may notice a lump or swelling. In some cases, the tumor can limit range of motion or cause numbness and/or pain if ... | Synovial sarcoma | c0039101 | 7,716 | gard | https://rarediseases.info.nih.gov/diseases/7721/synovial-sarcoma | 2021-01-18T17:57:26 | {"mesh": ["D013584"], "omim": ["300813"], "umls": ["C0039101"], "orphanet": ["3273"], "synonyms": ["Synovial cell sarcoma", "Synovialosarcoma"]} |
Ichthyosis acquisita
Other namesAcquired ichthyosis
SpecialtyDermatology
Ichthyosis acquisita is a disorder clinically and histologically similar to ichthyosis vulgaris.[1]:565
## Contents
* 1 Presentation
* 1.1 Associated conditions
* 2 See also
* 3 References
* 4 External links
## Presentati... | Ichthyosis acquisita | c0263386 | 7,717 | wikipedia | https://en.wikipedia.org/wiki/Ichthyosis_acquisita | 2021-01-18T18:29:55 | {"gard": ["476"], "mesh": ["C538175"], "umls": ["C0263386"], "icd-9": ["701.1"], "icd-10": ["L85.0"], "orphanet": ["454"], "wikidata": ["Q5986446"]} |
This is a red furrow which extends across the nose just proximal to the alae nasi. It is usually noticed early in childhood and at that stage may have a rose color. Anderson (1961) observed 2 extensively affected families. An instance of male-to-male transmission occurred in one.
Nose \- Red furrow across the... | NASAL GROOVE, FAMILIAL TRANSVERSE | c1834370 | 7,718 | omim | https://www.omim.org/entry/161500 | 2019-09-22T16:37:37 | {"omim": ["161500"]} |
## Clinical Features
Brown et al. (1979) described longstanding, multiple, subcutaneous nodules with the histopathologic characteristics of rheumatoid nodules, in 2 males without clinical or serologic evidence of rheumatic disease. No abnormality of leukocyte function was found. One patient had a positive family hi... | RHEUMATOID NODULOSIS | c0035450 | 7,719 | omim | https://www.omim.org/entry/180350 | 2019-09-22T16:35:08 | {"mesh": ["D012218"], "omim": ["180350"], "icd-10": ["M06.3"]} |
A number sign (#) is used with this entry because of evidence that Wiskott-Aldrich syndrome-2 (WAS2) is caused by homozygous mutation in the WIPF1 gene (602357) on chromosome 2q31. One such patient has been reported.
For a discussion of genetic heterogeneity of Wiskott-Aldrich syndrome, see WAS (301000).
Clinical F... | WISKOTT-ALDRICH SYNDROME 2 | c0043194 | 7,720 | omim | https://www.omim.org/entry/614493 | 2019-09-22T15:55:04 | {"mesh": ["D014923"], "omim": ["614493"], "orphanet": ["906"], "synonyms": ["Alternative titles", "WIPF1 DEFICIENCY"]} |
Reddy (1977) informed me of a case of threoninemia. The patient, an 8-month-old male offspring of a consanguineous marriage, had growth retardation and convulsions. The serum level of threonine was about 10 times normal and urinary excretion was increased. Oral loading with threonine increased the concentration in se... | THREONINEMIA | c1848861 | 7,721 | omim | https://www.omim.org/entry/273770 | 2019-09-22T16:21:44 | {"omim": ["273770"], "synonyms": ["Alternative titles", "HYPERTHREONINEMIA"]} |
A number sign (#) is used with this entry because of evidence that congenital reticular ichthyosiform erythroderma (CRIE) is caused by heterozygous mutation in the KRT10 gene (148080) on chromosome 17q21.
Description
Congenital reticular ichthyosiform erythroderma (CRIE), also known as ichthyosis with confetti (IWC... | ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR | c3665704 | 7,722 | omim | https://www.omim.org/entry/609165 | 2019-09-22T16:06:35 | {"omim": ["609165"], "orphanet": ["281190"], "synonyms": ["CRIE", "Ichthyosis variegata", "ICHTHYOSIS WITH CONFETTI", "Ichthyosis with confetti", "IWC", "Alternative titles", "ICHTHYOSIS VARIEGATA"]} |
A wide spectrum of malformations involving the distal anus and rectum as well as the urinary and genital tracts, which can affect boys and girls.
## Epidemiology
They occur in approximately 1 in 5000 live births.
## Clinical description
Defects range from mild anal anomalies to complex cloacal malformations. They... | Isolated anorectal malformation | c3495676 | 7,723 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=557 | 2021-01-23T17:27:46 | {"mesh": ["D000071056", "C537771"], "omim": ["107100", "207500", "301800"], "umls": ["C3495676"], "icd-10": ["Q42.0", "Q42.1", "Q42.2", "Q42.3"]} |
For a general phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (305450).
Clinical Features
Jehee et al. (2005) reported a Brazilian boy with FG syndrome born to a young and nonconsanguineous couple. The boy was severely hypotonic and mentally retarded. He had trigonocephaly ... | FG SYNDROME 5 | c1845119 | 7,724 | omim | https://www.omim.org/entry/300581 | 2019-09-22T16:20:03 | {"mesh": ["C564480"], "omim": ["300581"]} |
Christianson and Fourie (1996) described an Afrikaner family in which 6 persons in 3 generations showed an association of hair and nail defects. The proband had short, thin, sparse, pale scalp hair; her eyebrows were absent, and her eyelashes were short and sparse. There was almost no hair in her axillae and pubic ar... | ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE | c1832411 | 7,725 | omim | https://www.omim.org/entry/601375 | 2019-09-22T16:14:56 | {"mesh": ["C536180"], "omim": ["601375"], "orphanet": ["1808"]} |
A number sign (#) is used with this entry because of evidence that congenital disorder of glycosylation type Icc (CDG1CC) is caused by hemizygous mutation in the MAGT1 gene (300715) on chromosome Xq13.
Hemizygous mutation in the MAGT1 gene can also cause immunodeficiency with magnesium defect, Epstein-Barr virus inf... | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc | None | 7,726 | omim | https://www.omim.org/entry/301031 | 2019-09-22T16:18:57 | {"omim": ["301031"]} |
Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5) , is a severe form of glycogen storage disease characterized by exercise intolerance.
## Epidemiology
Prevalence is unknown.
## Clinical description
Onset occurs in childhood. Patients present with a syndrome of muscular ex... | Glycogen storage disease due to muscle glycogen phosphorylase deficiency | c0017924 | 7,727 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=368 | 2021-01-23T18:31:49 | {"gard": ["6528"], "mesh": ["D006012", "C537276"], "omim": ["232600"], "umls": ["C0017924", "C2936916"], "icd-10": ["E74.0"], "synonyms": ["GSD due to muscle glycogen phosphorylase deficiency", "GSD type 5", "GSD type V", "Glycogen storage disease type 5", "Glycogen storage disease type V", "Glycogenosis due to muscle ... |
Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a rare syndrome that causes vision loss, hearing loss, and symptoms affecting the muscles. The syndrome is associated with degeneration of the optic nerve (optic atrophy). The optic nerve sends signals about what the eyes are seeing to the brain. When ther... | Autosomal dominant optic atrophy plus syndrome | c2931235 | 7,728 | gard | https://rarediseases.info.nih.gov/diseases/5243/autosomal-dominant-optic-atrophy-plus-syndrome | 2021-01-18T18:01:57 | {"mesh": ["C536544"], "omim": ["125250"], "umls": ["C2931235"], "orphanet": ["1215"], "synonyms": ["Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy", "OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY", "DOMINANT OPTIC ATROPHY PLUS SYNDROME", "Tr... |
Idiopathic panuveitis is a rare inflammatory eye disease, of unknown etiology, characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairmen... | Idiopathic panuveitis | c4707884 | 7,729 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=280921 | 2021-01-23T18:16:01 | {"icd-10": ["H44.1"]} |
A number sign (#) is used with this entry because of evidence that Fuchs endothelial corneal dystrophy-8 (FECD8) is caused by heterozygous mutation in the AGBL1 gene (615496) on chromosome 15q25.
Description
Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. L... | CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8 | c0016781 | 7,730 | omim | https://www.omim.org/entry/615523 | 2019-09-22T15:51:50 | {"doid": ["11555"], "mesh": ["D005642"], "omim": ["615523"], "orphanet": ["98974"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive mental retardation-36 (MRT36) is caused by homozygous mutation in the ADAT3 gene (615302) on chromosome 19p13.
Clinical Features
Alazami et al. (2013) reported 8 consanguineous Arab families from various geographic regions in whi... | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 | c3809039 | 7,731 | omim | https://www.omim.org/entry/615286 | 2019-09-22T15:52:41 | {"omim": ["615286"], "orphanet": ["363528"], "synonyms": []} |
## Clinical Features
Ensink et al. (2001) reported a large 4-generation Dutch family with nonsyndromic progressive mid- to high-frequency sensorineural hearing loss. Most of those affected presented with hearing impairment after 30 years of age, but hearing impairment was noted at about 10 years of age in 2. After ... | DEAFNESS, AUTOSOMAL DOMINANT 31 | c1837617 | 7,732 | omim | https://www.omim.org/entry/608645 | 2019-09-22T16:07:26 | {"doid": ["0110561"], "mesh": ["C563888"], "omim": ["608645"], "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... |
Pancreatic injury
SpecialtyEmergency medicine
A pancreatic injury is some form of trauma sustained by the pancreas. The injury can be sustained through either blunt forces, such as a motor vehicle accident, or penetrative forces, such as that of a gunshot wound.[1] The pancreas is one of the least commonly inj... | Pancreatic injury | c0273163 | 7,733 | wikipedia | https://en.wikipedia.org/wiki/Pancreatic_injury | 2021-01-18T19:03:06 | {"icd-9": ["863.84"], "icd-10": ["S36.9"], "wikidata": ["Q7130410"]} |
## Summary
### Clinical characteristics.
The spectrum of COL4A1-related disorders includes: small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, musc... | COL4A1-Related Disorders | None | 7,734 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK7046/ | 2021-01-18T21:37:30 | {"synonyms": []} |
For a discussion of the genetic heterogeneity in age at natural menopause, see MENOQ1 (300488).
Mapping
Stolk et al. (2009) conducted a 2-stage genomewide association study for age at natural menopause in 2,979 European women and identified 4 SNPs on chromosome 19q13.4 that were significant: rs1172822 (p = 6.28 x 1... | MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 2 | c2752068 | 7,735 | omim | https://www.omim.org/entry/612884 | 2019-09-22T16:00:24 | {"omim": ["612884"]} |
Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogena... | Hand-foot-genital syndrome | c1841679 | 7,736 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2438 | 2021-01-23T18:31:02 | {"gard": ["2594"], "mesh": ["C535627"], "omim": ["140000"], "umls": ["C1841679"], "icd-10": ["Q51.2"], "synonyms": ["HFGS", "Hand-foot-uterus syndrome"]} |
White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atri... | White forelock with malformations | c1848463 | 7,737 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2475 | 2021-01-23T19:12:25 | {"gard": ["10081"], "mesh": ["C536700"], "omim": ["277740"], "umls": ["C1848463"], "icd-10": ["Q87.8"]} |
Silent sinus syndrome
Other namesImploding antrum syndrome
SpecialtyENT surgery
Silent sinus syndrome is a spontaneous, asymptomatic collapse of the maxillary sinus and orbital floor associated with negative sinus pressures. It can cause painless facial asymmetry, diplopia and enophthalmos. Usually the diagn... | Silent sinus syndrome | c3698095 | 7,738 | wikipedia | https://en.wikipedia.org/wiki/Silent_sinus_syndrome | 2021-01-18T18:30:09 | {"umls": ["C3698095"], "orphanet": ["71276"], "wikidata": ["Q7514763"]} |
## Clinical Features
Abidi et al. (1999) reported a family with X-linked mental retardation in which there were 8 affected males in 3 generations. Somatic manifestations were variable and mild; these included short stature (4 of 8), small head circumference (5 of 8), sloping forehead (5 of 8), hearing loss (3 o... | ABIDI X-LINKED MENTAL RETARDATION SYNDROME | c1846056 | 7,739 | omim | https://www.omim.org/entry/300262 | 2019-09-22T16:20:36 | {"doid": ["0060818"], "mesh": ["C535556"], "omim": ["300262"], "orphanet": ["85273"], "synonyms": ["Alternative titles", "MENTAL RETARDATION, X-LINKED, SYNDROMIC, ABIDI TYPE"]} |
An extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, ... | Multiple pterygium-malignant hyperthermia syndrome | c1857576 | 7,740 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2215 | 2021-01-23T18:17:44 | {"gard": ["3361"], "mesh": ["C565679"], "omim": ["217150"], "umls": ["C1857576"], "icd-10": ["G71.8"], "synonyms": ["Froster-Iskenius-Waterson-Hall syndrome", "Malignant hyperthermia-arthrogryposis-torticollis syndrome"]} |
Hypertryptophanemia
Other namesFamilial hypertryptophanemia[1]
Tryptophan
SpecialtyEndocrinology
Hypertryptophanemia, is a rare autosomal recessive[2] metabolic disorder that results in a massive buildup of the amino acid tryptophan in the blood, with associated symptoms and tryptophanuria (-uria denotes "... | Hypertryptophanemia | c2931837 | 7,741 | wikipedia | https://en.wikipedia.org/wiki/Hypertryptophanemia | 2021-01-18T18:47:28 | {"gard": ["2871"], "mesh": ["C538393", "C563467"], "umls": ["C2931837"], "icd-9": ["270.2"], "icd-10": ["E70.8"], "orphanet": ["2224"], "wikidata": ["Q5958803"]} |
A rare, genetic, syndromic, neurological disorder characterized by early infantile-onset of the progressive brain and spinal cord calcification, growth retardation, psychomotor deterioration, deafness, microcytic hypochromic anemia, and variable distal renal tubular acidosis. There have been no further descriptio... | Central nervous system calcification-deafness-tubular acidosis-anemia syndrome | None | 7,742 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3240 | 2021-01-23T18:26:48 | {"synonyms": ["Central nervous system calcification-hearing loss-tubular acidosis-anemia syndrome", "Yoshimura-Takeshita syndrome"]} |
Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous s... | Penoscrotal transposition | c1868854 | 7,743 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2842 | 2021-01-23T17:15:34 | {"gard": ["4273"], "mesh": ["C536650"], "umls": ["C1868854"], "icd-10": ["Q55.8"]} |
Concha bullosa on both sides (marked with asterisks), coronal orientated image from CT
A concha bullosa is a pneumatized (air-filled) cavity within a nasal concha, also known as a turbinate.[1] Bullosa refers to the air-filled cavity within the turbinate.[1] It is a normal anatomic variant seen in up to half the pop... | Concha bullosa | c0339821 | 7,744 | wikipedia | https://en.wikipedia.org/wiki/Concha_bullosa | 2021-01-18T18:44:18 | {"umls": ["C0339821"], "wikidata": ["Q5158611"]} |
Phobophobia
SpecialtyPsychology
Phobophobia is the fear of phobias and, more specifically, of the internal sensations associated with that phobia and anxiety,[1] which binds it closely to other anxiety disorders, especially with generalized anxiety disorders (free floating fears) and panic attacks. It is a con... | Phobophobia | None | 7,745 | wikipedia | https://en.wikipedia.org/wiki/Phobophobia | 2021-01-18T18:58:05 | {"wikidata": ["Q1644478"]} |
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Find sources: "Zamzam–Sheriff–Phillips syndrome" – news · newspapers · books · scholar · JSTOR (April 2008) (Learn how and when to rem... | Zamzam–Sheriff–Phillips syndrome | c2931300 | 7,746 | wikipedia | https://en.wikipedia.org/wiki/Zamzam%E2%80%93Sheriff%E2%80%93Phillips_syndrome | 2021-01-18T19:03:55 | {"gard": ["339"], "mesh": ["C536723"], "umls": ["C2931300"], "wikidata": ["Q167868"]} |
"Mendes da Costa" redirects here. For people with this name, see Mendes (name). "Mendes da Costa syndrome" redirects here. It is not to be confused with Da Costa's syndrome.
Erythrokeratodermia variabilis
Other namesProgressive symmetric erythrokeratodermia, Gottron type
Erythrokeratodermia variabilis is inh... | Erythrokeratodermia variabilis | c0265961 | 7,747 | wikipedia | https://en.wikipedia.org/wiki/Erythrokeratodermia_variabilis | 2021-01-18T18:45:41 | {"gard": ["10923"], "mesh": ["D056266"], "umls": ["C0265961", "C1851480"], "orphanet": ["317"], "wikidata": ["Q3591493"]} |
A number sign (#) is used with this entry because of evidence that this disorder can be caused by mutations in the integrin-beta-4 gene (ITGB4; 147557) or the integrin-alpha-6 gene (ITGA6; 147556).
See also epidermolysis bullosa simplex with pyloric atresia (EBSPA), which is caused by mutations in the PLEC1 gene... | EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA | c1856934 | 7,748 | omim | https://www.omim.org/entry/226730 | 2019-09-22T16:28:12 | {"doid": ["0060733"], "mesh": ["C535377"], "omim": ["226730"], "orphanet": ["79403"], "synonyms": ["Alternative titles", "EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA", "JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA", "JEB-PA", "EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA AND APLASIA CUTI... |
Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a part... | Camptodactyly-tall stature-scoliosis-hearing loss syndrome | c1864852 | 7,749 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85164 | 2021-01-23T18:56:26 | {"gard": ["10012"], "mesh": ["C537975"], "omim": ["610474"], "umls": ["C1864852"], "icd-10": ["Q87.2"], "synonyms": ["CATSHL syndrome", "Camptodactyly-tall stature-scoliosis-deafness syndrome"]} |
Hypoglossia
SpecialtyMedical genetics
Hypoglossia is a short, incompletely developed tongue. It can occur either as an isolated malformation or in association with other deformities,[1] particularly limb defects in a syndrome known as oromandibular limb hypogenesis syndrome.
## References[edit]
1. ^ Amor D... | Hypoglossia | c0025988 | 7,750 | wikipedia | https://en.wikipedia.org/wiki/Hypoglossia | 2021-01-18T18:36:50 | {"mesh": ["D014060"], "umls": ["C0025988"], "icd-10": ["Q38.3"], "orphanet": ["156212", "141152"], "wikidata": ["Q5959625"]} |
Micro syndrome
Other namesWarburg–Sjo–Fledelius syndrome
Warburg Micro syndrome (WARBM), also known as Micro syndrome, is a rare autosomal recessive genetic disorder characterized by microcephaly, microcornea, congenital cataract, intellectual or developmental disability, optic atrophy, and hypogenitalism.... | Warburg Micro syndrome | c1838625 | 7,751 | wikipedia | https://en.wikipedia.org/wiki/Warburg_Micro_syndrome | 2021-01-18T19:08:10 | {"gard": ["5534"], "mesh": ["C536681"], "umls": ["C1838625"], "orphanet": ["2510"], "wikidata": ["Q6839205"]} |
Rare genetic disease
Spinal muscular atrophy with lower extremity predominance 2B
Other namesLower extremity-predominant spinal muscular atrophy type 2B, SMALED2B
Spinal muscular atrophy with lower extremity predominance 2B is inherited in an autosomal dominant manner.
SpecialtyNeurology
SymptomsGenerali... | Spinal muscular atrophy with lower extremity predominance 2B | None | 7,752 | wikipedia | https://en.wikipedia.org/wiki/Spinal_muscular_atrophy_with_lower_extremity_predominance_2B | 2021-01-18T18:29:15 | {"wikidata": ["Q102296550"]} |
The large number of distinct types of the Ehlers-Danlos syndrome that have already been identified indicates great heterogeneity, but clearly that heterogeneity is not exhausted by the present classification. Some of the unclassified families are apparently recessive (see 225320); some, such as that reported by F... | EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED | c0220679 | 7,753 | omim | https://www.omim.org/entry/130090 | 2019-09-22T16:41:47 | {"mesh": ["C562424"], "omim": ["130090"], "synonyms": ["Alternative titles", "EDS, UNSPECIFIED TYPE", "EHLERS-DANLOS SYNDROME, FRIEDMAN-HARROD TYPE"]} |
Multiple carboxylase deficiency
SpecialtyMedical genetics, endocrinology
Multiple carboxylase deficiency is a form of metabolic disorder involving failures of carboxylation enzymes.
The deficiency can be in biotinidase or holocarboxylase synthetase.[1]
These conditions respond to biotin.[2]
Forms include:
... | Multiple carboxylase deficiency | c0026755 | 7,754 | wikipedia | https://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency | 2021-01-18T18:44:34 | {"gard": ["3824"], "mesh": ["D009100"], "umls": ["C0026755"], "orphanet": ["148"], "wikidata": ["Q6934914"]} |
Onychomycosis
Other namesDermatophytic onychomycosis[1] tinea unguium[1]
A toenail affected by onychomycosis
SpecialtyInfectious disease
SymptomsWhite or yellow nail discoloration, thickening of the nail[2][3]
ComplicationsLower leg cellulitis[3]
Usual onsetOlder males[2][3]
CausesFungal infection[3... | Onychomycosis | c0040261 | 7,755 | wikipedia | https://en.wikipedia.org/wiki/Onychomycosis | 2021-01-18T19:10:38 | {"mesh": ["D014009"], "umls": ["C0040261"], "icd-9": ["681.9"], "icd-10": ["B35.1"], "wikidata": ["Q917620"]} |
## Description
Hyperhidrosis palmaris et plantaris (HYPRPP) is characterized by excessive perspiration of the eccrine sweat gland in the palm, sole, and axilla. Perspiration in those affected may be aggravated by emotional stimuli (summary by Higashimoto et al., 2006).
Stolman (1998) noted that hyperhidrosis may b... | HYPERHIDROSIS PALMARIS ET PLANTARIS | c1274743 | 7,756 | omim | https://www.omim.org/entry/144110 | 2019-09-22T16:40:05 | {"mesh": ["C563185"], "omim": ["144110"], "synonyms": ["Alternative titles", "HYPERHIDROSIS, PRIMARY PALMAR"]} |
Hereditary thrombophilia due to congenital antithrombin deficiency is a rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the dee... | Hereditary thrombophilia due to congenital antithrombin deficiency | c0272375 | 7,757 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=82 | 2021-01-23T17:45:28 | {"gard": ["6148"], "mesh": ["D020152"], "omim": ["613118"], "icd-10": ["D68.5"], "synonyms": ["Hereditary thrombophilia due to congenital antithrombin 3 deficiency"]} |
Primary pulmonary coccidioidomycosis
SpecialtyInfectious disease
Primary pulmonary coccidioidomycosis is an infection caused by inhalation of Coccidioides immitis.[1]:314 Once pulmonary symptoms subside, about 30% of women and 15% of men will have allergic skin manifestations in the form of erythema nodosum.[1... | Primary pulmonary coccidioidomycosis | c0375046 | 7,758 | wikipedia | https://en.wikipedia.org/wiki/Primary_pulmonary_coccidioidomycosis | 2021-01-18T19:07:15 | {"umls": ["C0375046"], "icd-9": ["114.0"], "icd-10": ["B38.2"], "wikidata": ["Q7243158"]} |
## Description
The Osebold-Remondini syndrome is a bone dysplasia with mesomelic shortness of limbs and, hence, shortness of stature, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, carpal and tarsal coalitions, and apparently no other anomalies (summary by Opitz and Gilber... | OSEBOLD-REMONDINI SYNDROME | c1862130 | 7,759 | omim | https://www.omim.org/entry/112910 | 2019-09-22T16:44:05 | {"doid": ["0110968"], "mesh": ["C537092"], "omim": ["112910"], "orphanet": ["93382"], "synonyms": ["Alternative titles", "BRACHYMESOPHALANGY WITH MESOMELIC SHORT LIMBS AND CARPAL AND TARSAL OSSEOUS ABNORMALITIES", "BRACHYDACTYLY, TYPE A6"]} |
A number sign (#) is used with this entry because X-linked erythropoietic protoporphyria (XLEPP) is caused by gain-of-function mutations in the ALAS2 gene (301300) on chromosome Xp11.
Loss-of-function mutations in the ALAS2 gene cause X-linked sideroblastic anemia (300751).
Description
X-linked erythropoietic prot... | PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED | c2677889 | 7,760 | omim | https://www.omim.org/entry/300752 | 2019-09-22T16:19:46 | {"doid": ["13270"], "mesh": ["C567464"], "omim": ["300752"], "orphanet": ["443197"], "synonyms": ["Alternative titles", "PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED DOMINANT", "ERYTHROHEPATIC PROTOPORPHYRIA, X-LINKED"], "genereviews": ["NBK121284"]} |
Coccygodynia is a rare condition in that causes pain in and around the coccyx (tailbone). Although various causes have been described for the condition, the more common causes are direct falls and injury.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adre... | Coccygodynia | c0009193 | 7,761 | gard | https://rarediseases.info.nih.gov/diseases/5168/coccygodynia | 2021-01-18T18:01:15 | {"umls": ["C0009193"], "synonyms": ["Coccydynia"]} |
Keshan disease
SpecialtyCardiology
Keshan disease is a congestive cardiomyopathy caused by a combination of dietary deficiency of selenium and the presence of a mutated strain of Coxsackievirus, named after Keshan County of Heilongjiang province, Northeast China, where symptoms were first noted. These symptoms... | Keshan disease | c0268095 | 7,762 | wikipedia | https://en.wikipedia.org/wiki/Keshan_disease | 2021-01-18T18:40:29 | {"gard": ["8761"], "mesh": ["C536166"], "umls": ["C0268095"], "icd-9": ["269.3"], "icd-10": ["E59"], "wikidata": ["Q1739759"]} |
Schöpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.
## Epidemiology
More than 25 cases with SSPS have been described so far.
## Clinical descrip... | Schöpf-Schulz-Passarge syndrome | c1857069 | 7,763 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=50944 | 2021-01-23T19:02:05 | {"mesh": ["C565607"], "omim": ["224750"], "umls": ["C1857069"], "icd-10": ["Q82.8"], "synonyms": ["Eccrine tumors-ectodermal dysplasia", "Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome", "Palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome", "Palmoplantar keratoderma-... |
An autosomal dominant cerebellar ataxia type II that is characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.
## Epidemiology
The disorder is estimated worldwide prevalence is less than 1/100,000 and it is thought to account... | Spinocerebellar ataxia type 7 | c0752125 | 7,764 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=94147 | 2021-01-23T18:21:47 | {"gard": ["4955"], "mesh": ["D020754"], "omim": ["164500"], "umls": ["C0752125"], "icd-10": ["G11.8"], "synonyms": ["Ataxia with pigmentary retinopathy", "Cerebellar syndrome-pigmentary maculopathy syndrome", "SCA7"]} |
Craniosynostosis is the premature closure of one or more of the joints that connect the bones of a baby's skull (cranial sutures). Normally, the bones remain separate until about age 2, while the brain is growing. They then fuse together and stay connected throughout life. The closure is premature when it occurs befo... | Craniosynostosis | c0010278 | 7,765 | gard | https://rarediseases.info.nih.gov/diseases/6209/craniosynostosis | 2021-01-18T18:01:03 | {"mesh": ["D003398"], "omim": ["123100"], "umls": ["C0010278"], "orphanet": ["1531"], "synonyms": ["Craniostenosis", "CSO"]} |
"Granulomatous" and "Granulomatous reactions" redirect here. For the Interstitial granulomatous drug reaction, see Interstitial granulomatous drug reaction.
Not to be confused with Granulation tissue.
Granuloma
Picture of a granuloma (without necrosis) as seen through a microscope on a glass slide. The tissue on ... | Granuloma | c0018188 | 7,766 | wikipedia | https://en.wikipedia.org/wiki/Granuloma | 2021-01-18T19:04:19 | {"mesh": ["D006099"], "icd-9": ["686.1", "709.4"], "icd-10": ["L92"], "wikidata": ["Q1129338"]} |
Laplane et al. (1972) reported 2 brothers of Kabylian ancestry (the Kabyle are Berber people of northern Algeria) with a disorder they termed syndesmodysplasic dwarfism. Features were severe dwarfism and progressive stiff joints, including spine and hips. The skin was said to be normal.
Joints \- Progressive ... | SYNDESMODYSPLASIC DWARFISM | c2931647 | 7,767 | omim | https://www.omim.org/entry/272450 | 2019-09-22T16:21:56 | {"mesh": ["C537869"], "omim": ["272450"], "orphanet": ["2654"]} |
Papilloma of the choroid plexus is a rare benign type of choroid plexus tumor (see this term), accounting for 1% of all brain tumors, often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomit... | Papilloma of choroid plexus | c0205770 | 7,768 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2807 | 2021-01-23T17:59:37 | {"gard": ["4214"], "mesh": ["D020288"], "omim": ["260500"], "umls": ["C0205770"], "icd-10": ["D33.0"], "synonyms": ["CPP", "Choroid plexus papilloma"]} |
A heart defect present at birth in which blood can flow through an opening between the top chambers of the heart
Atrial septal defect
Illustration of an atrial septal defect.
SpecialtyCardiac surgery
Symptomsasymptomatic
Atrial septal defect (ASD) is a congenital heart defect in which blood flows between ... | Atrial septal defect | c0018817 | 7,769 | wikipedia | https://en.wikipedia.org/wiki/Atrial_septal_defect | 2021-01-18T18:52:26 | {"mesh": ["D006344"], "umls": ["C0018817"], "icd-9": ["745.5", "745.6"], "orphanet": ["1478"], "wikidata": ["Q757749"]} |
## Description
Perifolliculitis capitis abscedens et suffodiens is a chronic inflammatory disease of the scalp characterized by the presence of large and small nodules that suppurate and intercommunicate by sinus formation. It may be more frequent in black males than in others (summary by McMullan and Zeligman,... | PERIFOLLICULITIS CAPITIS ABSCEDENS ET SUFFODIENS, FAMILIAL | c0263506 | 7,770 | omim | https://www.omim.org/entry/260910 | 2019-09-22T16:23:35 | {"mesh": ["C562486"], "omim": ["260910"], "icd-10": ["L66.3"], "orphanet": ["345"], "synonyms": ["Alternative titles", "DISSECTING CELLULITIS OF THE SCALP"]} |
Ectrodactyly–ectodermal dysplasia–cleft syndrome
Other namesEEC syndrome
Ectrodactyly–ectodermal dysplasia–cleft syndrome is autosomal dominant
SpecialtyMedical genetics
Ectrodactyly–ectodermal dysplasia–cleft syndrome, or EEC, and also referred to as EEC syndrome[1] and split hand–split foot–ectodermal dy... | Ectrodactyly–ectodermal dysplasia–cleft syndrome | c0406704 | 7,771 | wikipedia | https://en.wikipedia.org/wiki/Ectrodactyly%E2%80%93ectodermal_dysplasia%E2%80%93cleft_syndrome | 2021-01-18T18:57:41 | {"gard": ["2076"], "mesh": ["C536189"], "umls": ["C0406704"], "orphanet": ["1896"], "wikidata": ["Q5334319"]} |
A rare, syndromic, hereditary optic neuropathy disorder characterized by early-onset, severe, progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (e.g. mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and, ... | Autosomal recessive optic atrophy, OPA7 type | c2751812 | 7,772 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=227976 | 2021-01-23T16:59:47 | {"mesh": ["C567833"], "omim": ["612989"], "icd-10": ["H47.2"]} |
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. (September 2015)
Retrocuspid papilla (RCP) is a small elevated nodules mostly behind the lower canine teeth in humans(Fig.1,2).[1] It is sometimes associa... | Retrocuspid papilla | None | 7,773 | wikipedia | https://en.wikipedia.org/wiki/Retrocuspid_papilla | 2021-01-18T18:53:00 | {"wikidata": ["Q25111468"]} |
Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance.
## Epidemiology
The incidence is estimated at 1 in ... | Congenitally uncorrected transposition of the great arteries | c1837341 | 7,774 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=860 | 2021-01-23T18:41:37 | {"mesh": ["C563853"], "omim": ["608808", "613854"], "icd-10": ["Q20.3"], "synonyms": ["Congenitally uncorrected transposition of the great vessels", "D-transposition of the great arteries", "Dextro-transposition of the great arteries", "Isolated ventriculoarterial discordance", "Ventriculoarterial discordance with atri... |
FBXL4-related encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome is a severe condition that begins in infancy and affects multiple body systems. It is primarily associated with brain dysfunction combined with muscle weakness (encephalomyopathy).
Infants with FBXL4-related encephalomyopathic mtDNA deplet... | FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome | c3809592 | 7,775 | medlineplus | https://medlineplus.gov/genetics/condition/fbxl4-related-encephalomyopathic-mitochondrial-dna-depletion-syndrome/ | 2021-01-27T08:24:56 | {"omim": ["615471"], "synonyms": []} |
X-linked creatine deficiency is an inherited disorder that primarily affects the brain. People with this disorder have intellectual disability, which can range from mild to severe, and delayed speech development. Some affected individuals develop behavioral disorders such as attention-deficit/hyperactivity disorder (... | X-linked creatine deficiency | c1845862 | 7,776 | medlineplus | https://medlineplus.gov/genetics/condition/x-linked-creatine-deficiency/ | 2021-01-27T08:24:35 | {"gard": ["1608"], "mesh": ["C535598"], "omim": ["300352"], "synonyms": []} |
With an estimated 120,000 people living with HIV/AIDS, the HIV/AIDS epidemic in Colombia is consistent with the epidemic in much of Latin America as a whole, both in terms of prevalence of infection and characteristics of transmission and affected populations.[1] Colombia has a relatively low rate of HIV infection at... | HIV/AIDS in Colombia | None | 7,777 | wikipedia | https://en.wikipedia.org/wiki/HIV/AIDS_in_Colombia | 2021-01-18T19:04:18 | {"wikidata": ["Q17001419"]} |
Gerald and Bruns (1978) reported that E11S mapped separately from polio sensitivity (173850) on chromosome 19 and is therefore determined by a separate gene. Coxsackievirus B3 susceptibility (120050) is also determined by a gene on chromosome 19. By analysis of human-mouse hybrid cells, Kaneda et al. (1987) assig... | ECHO VIRUS 11 SENSITIVITY | c1851888 | 7,778 | omim | https://www.omim.org/entry/129150 | 2019-09-22T16:41:56 | {"mesh": ["C565071"], "omim": ["129150"]} |
A group of rare arteriovenous malformations characterized by unilateral vascular malformations in a metameric distribution involving the craniofacial region. Subtypes differ according to the distribution of lesions, with cerebrofacial arteriovenous metameric syndrome (CAMS) 1 (medial prosencephalic group) involving t... | Cerebrofacial arteriovenous metameric syndrome | c3839265 | 7,779 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=141189 | 2021-01-23T18:56:30 | {"icd-10": ["Q28.2"], "synonyms": ["CAMS"]} |
A number sign (#) is used with this entry because of evidence that immunodeficiency-centromeric instability-facial anomalies syndrome-3 (ICF3) is caused by homozygous mutation in the CDCA7 gene (609937) on chromosome 2q31.
Description
Immunodeficiency-centromeric instability-facial anomalies syndrome-3 is an autoso... | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 | c4310799 | 7,780 | omim | https://www.omim.org/entry/616910 | 2019-09-22T15:47:29 | {"doid": ["0090010"], "omim": ["616910"], "orphanet": ["2268"], "synonyms": ["Immunodeficiency-centromeric instability-facial anomalies syndrome"]} |
Pseudohypoaldosteronism type 1 (PHA1) is a condition characterized by problems regulating the amount of sodium in the body. Sodium regulation, which is important for blood pressure and fluid balance, primarily occurs in the kidneys. However, sodium can also be removed from the body through other tissues, such as the ... | Pseudohypoaldosteronism type 1 | c1449842 | 7,781 | medlineplus | https://medlineplus.gov/genetics/condition/pseudohypoaldosteronism-type-1/ | 2021-01-27T08:24:46 | {"gard": ["9145", "4552"], "mesh": ["D011546"], "omim": ["177735", "264350"], "synonyms": []} |
A teratoma with malignant transformation (TMT) is a tumor that develops from germ cells when they grow and divide abnormally, forming a mass. Approximately 6% of teratomas develop into TMTs by a process called malignant transformation, when some of the cells in the teratoma become cancerous. TMTs can occur anywhere i... | Teratoma with malignant transformation | c0039538 | 7,782 | gard | https://rarediseases.info.nih.gov/diseases/10646/teratoma-with-malignant-transformation | 2021-01-18T17:57:23 | {"mesh": ["D013724"], "umls": ["C0039538"], "synonyms": []} |
Dysmorphopsia
SpecialtyOphthalmology
Dysmorphopsia, in a broad sense, is a condition in which a person is unable to correctly perceive objects. It is a visual distortion, used to denote a variant of metamorphopsia in which lines appear wavy.[1] These illusions may be restricted to certain visuals areas, or may... | Dysmorphopsia | None | 7,783 | wikipedia | https://en.wikipedia.org/wiki/Dysmorphopsia | 2021-01-18T18:44:06 | {"wikidata": ["Q25312802"]} |
A very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneo... | Ascher syndrome | c0339085 | 7,784 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1253 | 2021-01-23T18:47:01 | {"gard": ["201"], "mesh": ["C562742"], "omim": ["109900"], "umls": ["C0339085"], "icd-10": ["Q87.0"], "synonyms": ["Blepharochalasis-double lip syndrome"]} |
A number sign (#) is used with this entry because of evidence that the Stanescu type of spondyloepiphyseal dysplasia (SEDSTN) is caused by heterozygous mutation in the COL2A1 gene (120140) on chromosome 12q13.
Description
Spondyloepiphyseal dysplasia with accumulation of glycoprotein in chondrocytes has been design... | SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE | c4225273 | 7,785 | omim | https://www.omim.org/entry/616583 | 2019-09-22T15:48:25 | {"omim": ["616583"], "orphanet": ["459051"], "synonyms": ["Alternative titles", "SED, STANESCU TYPE", "SED, Stanescu type"]} |
Autosomal recessive polycystic kidney disease (ARPKD) is a genetic condition that is characterized by the growth of cysts in the kidneys (which lead to kidney failure) and liver and problems in other organs, such as the blood vessels in the brain and heart. The severity varies from person to person. The signs of ARPK... | Autosomal recessive polycystic kidney disease | c0085548 | 7,786 | gard | https://rarediseases.info.nih.gov/diseases/8378/autosomal-recessive-polycystic-kidney-disease | 2021-01-18T18:01:55 | {"mesh": ["D017044"], "omim": ["263200"], "umls": ["C0085548"], "orphanet": ["731"], "synonyms": ["ARPKD", "Polycystic kidney disease, infantile type"]} |
A number sign (#) is used with this entry because of evidence that variation in the IRF5 gene (607218) influences susceptibility to systemic lupus erythematosus.
For a phenotypic description and a discussion of genetic heterogeneity of systemic lupus erythematosus (SLE), see 152700.
Mapping
Systemic lupus erythema... | SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 10 | c2677097 | 7,787 | omim | https://www.omim.org/entry/612251 | 2019-09-22T16:02:02 | {"omim": ["612251"]} |
## Clinical Features
Wolach et al. (1990) described this combination in a 5-year-old daughter of first-cousin, Sephardic Jewish parents. Diffuse skin pigmentation had been present from birth and biopsy confirmed the diagnosis of diffuse cutaneous mastocytosis (see 154800). There was no mental retardation associated... | CUTANEOUS MASTOCYTOSIS, CONDUCTIVE HEARING LOSS AND MICROTIA | c3151493 | 7,788 | omim | https://www.omim.org/entry/248910 | 2019-09-22T16:25:31 | {"omim": ["248910"], "orphanet": ["2135"], "synonyms": ["Mastocytosis-short stature-hearing loss syndrome"]} |
A number sign (#) is used with this entry because the velocardiofacial syndrome and DiGeorge syndrome (DGS; 188400) are caused by a 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2. Haploinsufficiency of the TBX1 gene (602054) in particular is responsible for most of the physical malformations. There is evide... | VELOCARDIOFACIAL SYNDROME | c0012236 | 7,789 | omim | https://www.omim.org/entry/192430 | 2019-09-22T16:32:02 | {"doid": ["12583"], "mesh": ["D004062"], "omim": ["192430"], "icd-9": ["758.32"], "icd-10": ["Q93.81"], "orphanet": ["567"], "synonyms": ["Alternative titles", "CHROMOSOME 22q11.2 DELETION SYNDROME", "VCF SYNDROME", "SHPRINTZEN VCF SYNDROME"], "genereviews": ["NBK1523"]} |
Paroxysmal kinesigenic choreoathetosis
Other namesFamilial PKD
Paroxysmal kinesigenic choreoathetosis is inherited in an autosomal dominant manner
SpecialtyNeurology
Paroxysmal kinesigenic choreoathetosis (PKC) also called paroxysmal kinesigenic dyskinesia (PKD) is a hyperkinetic movement disorder characte... | Paroxysmal kinesigenic choreoathetosis | c1868682 | 7,790 | wikipedia | https://en.wikipedia.org/wiki/Paroxysmal_kinesigenic_choreoathetosis | 2021-01-18T18:42:43 | {"gard": ["8721"], "orphanet": ["98809"], "wikidata": ["Q3042113"]} |
Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD; see this term).
## Epidemiology
Prevalence is unknown.
## Clinical description
It is characterized by early-onset nystagmus, delayed... | Pelizaeus-Merzbacher-like disease | c1850053 | 7,791 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=280270 | 2021-01-23T17:17:50 | {"gard": ["12300"], "mesh": ["C536319"], "omim": ["260600", "300523", "608804", "612233"], "icd-10": ["E75.2"], "synonyms": ["PMLD"]} |
Abnormally increased distance between two body parts, usually the eyes
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: "Hypertelorism" – news · newspapers · books · sc... | Hypertelorism | c0020534 | 7,792 | wikipedia | https://en.wikipedia.org/wiki/Hypertelorism | 2021-01-18T18:48:01 | {"mesh": ["D006972"], "umls": ["C0020534"], "icd-9": ["756.0", "376.41"], "icd-10": ["Q75.2"], "wikidata": ["Q1641128"]} |
A number sign (#) is used with this entry because von Hippel-Lindau syndrome (VHL) is caused by heterozygous mutation in the VHL gene (608537) on chromosome 3p25.
Evidence suggests that variation in the cyclin D1 gene (CCND1; 168461) on chromosome 11q13 may modify the phenotype.
Homozygous or compound heterozyg... | VON HIPPEL-LINDAU SYNDROME | c0019562 | 7,793 | omim | https://www.omim.org/entry/193300 | 2019-09-22T16:31:54 | {"doid": ["14175"], "mesh": ["D006623"], "omim": ["193300"], "icd-10": ["Q85.8"], "orphanet": ["892"], "genereviews": ["NBK1463"]} |
For a general phenotypic description and a discussion of genetic heterogeneity of Carney complex, see CNC1 (160980).
Mapping
Stratakis et al. (1995, 1996) studied 101 patients from 11 North American kindreds with Carney complex. Skin myxomas, cardiac myxomas, Cushing syndrome, and acromegaly were present in, respec... | CARNEY COMPLEX, TYPE 2 | c2607929 | 7,794 | omim | https://www.omim.org/entry/605244 | 2019-09-22T16:11:27 | {"doid": ["0050471"], "mesh": ["D056733"], "omim": ["605244"], "orphanet": ["1359"], "synonyms": ["Alternative titles", "CARNEY MYXOMA-ENDOCRINE COMPLEX, TYPE 2"], "genereviews": ["NBK1286"]} |
McCune-Albright syndrome (MAS) is a disorder that affects the skin, skeleton, and certain endocrine organs (hormone-producing tissues). Cafe-au-lait spots of the skin are common and are usually the first apparent sign of MAS. The main skeletal feature is fibrous dysplasia, which ranges in severity and can cause vario... | McCune-Albright syndrome | c0242292 | 7,795 | gard | https://rarediseases.info.nih.gov/diseases/6995/mccune-albright-syndrome | 2021-01-18T17:59:13 | {"mesh": ["D005359"], "omim": ["174800"], "orphanet": ["562"], "synonyms": ["MAS", "Albright syndrome", "Albright's disease", "PFD", "POFD", "McCune Albright syndrome", "Polyostotic fibrous dysplasia"]} |
Baker (1937) and others have reported families with numerous persons with appendicitis in a pattern consistent with dominant inheritance with irregular penetrance. Barker and Morris (1988) and Barker et al. (1988) reported results of epidemiologic studies in the U.K. demonstrating a relationship between housing condi... | APPENDICITIS, PRONENESS TO | c1862632 | 7,796 | omim | https://www.omim.org/entry/107700 | 2019-09-22T16:44:48 | {"omim": ["107700"]} |
Prostatic stromal tumour of uncertain malignant potential
Other namesProstatic stromal proliferation of uncertain malignant potential (PSPUMP)[1]
Prostatic stromal tumour of uncertain malignant potential. H&E stain.
Prostatic stromal tumour of uncertain malignant potential (PSTUMP) is a rare tumour of the pr... | Prostatic stromal tumour of uncertain malignant potential | c1514517 | 7,797 | wikipedia | https://en.wikipedia.org/wiki/Prostatic_stromal_tumour_of_uncertain_malignant_potential | 2021-01-18T18:28:00 | {"gard": ["9405"], "mesh": ["C537245"], "umls": ["C1514517", "C2931458"], "wikidata": ["Q28439761"]} |
Acute uric acid nephropathy
SpecialtyNephrology
Acute uric acid nephropathy (AUAN, also acute urate nephropathy) is a rapidly worsening (decreasing) kidney function (acute kidney injury) that is caused by high levels of uric acid in the urine (hyperuricosuria).
## Contents
* 1 Causes
* 2 Pathophysiol... | Acute uric acid nephropathy | c0558595 | 7,798 | wikipedia | https://en.wikipedia.org/wiki/Acute_uric_acid_nephropathy | 2021-01-18T19:00:38 | {"umls": ["C0558595"], "wikidata": ["Q4677952"]} |
Hereditary geniospasm is a movement disorder that causes episodes of involuntary tremors of the chin and lower lip. The episodes may last anywhere from a few seconds to hours and may occur spontaneously or be brought on by stress. The episodes usually first appear in infancy or childhood and tend to lessen in frequen... | Hereditary geniospasm | c2931589 | 7,799 | gard | https://rarediseases.info.nih.gov/diseases/9501/hereditary-geniospasm | 2021-01-18T18:00:03 | {"mesh": ["C537682"], "omim": ["190100"], "orphanet": ["53372"], "synonyms": ["Trembling chin", "GSM 1", "Hereditary chin tremor/myoclonus", "Geniospasm"]} |
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