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Tricyclic anti-depressant overdose
Other namesTCA poisoning, TCA overdose, TCA toxicity
Chemical structure of the tricyclic antidepressant amitriptyline
SpecialtyEmergency medicine
SymptomsElevated body temperature, large pupils, irregular heart beat, seizures[1]
Usual onsetWithin 6 hours[2]
CausesAcciden... | Tricyclic antidepressant overdose | None | 3,000 | wikipedia | https://en.wikipedia.org/wiki/Tricyclic_antidepressant_overdose | 2021-01-18T18:45:36 | {"icd-9": ["969.0"], "icd-10": ["T43.0"], "orphanet": ["43117"], "synonyms": [], "wikidata": ["Q7841334"]} |
Fowler's syndrome
SpecialtyUrologist
Fowler's syndrome (non-neurogenic urinary retention) is a disease characterized by urinary retention with abnormal electromyographic activity in young women in the absence of overt neurological disease.[1]
## Contents
* 1 Presentation
* 2 Cause
* 3 Diagnosis
*... | Fowler's syndrome | c1856972 | 3,001 | wikipedia | https://en.wikipedia.org/wiki/Fowler%27s_syndrome | 2021-01-18T19:07:13 | {"gard": ["2365"], "mesh": ["C565593"], "wikidata": ["Q22965443"]} |
Main article: Alexia (acquired dyslexia)
Pure alexia, also known as agnosic alexia or alexia without agraphia or pure word blindness, is one form of alexia which makes up "the peripheral dyslexia" group.[1] Individuals who have pure alexia have severe reading problems while other language-related skills such as nami... | Pure alexia | c0751840 | 3,002 | wikipedia | https://en.wikipedia.org/wiki/Pure_alexia | 2021-01-18T18:39:32 | {"mesh": ["D020237"], "wikidata": ["Q7261142"]} |
Rapid, irregular contraction of muscle fibers (typically of the heart)
For the video game, see Fibrillation (video game).
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 s... | Fibrillation | c0232197 | 3,003 | wikipedia | https://en.wikipedia.org/wiki/Fibrillation | 2021-01-18T18:37:50 | {"umls": ["C0232197"], "wikidata": ["Q1001150"]} |
## Description
Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of intere... | AUTISM, SUSCEPTIBILITY TO, 7 | c1970807 | 3,004 | omim | https://www.omim.org/entry/610676 | 2019-09-22T16:04:13 | {"omim": ["610676"]} |
A parapharyngeal abscess is a deep neck space abscess of the parapharyngeal space (or pharyngomaxillary space), which is lateral to the superior pharyngeal constrictor muscle and medial to the masseter muscle. [1] This space is divided by the styloid process into anterior and posterior compartments. The posterior com... | Parapharyngeal abscess | c0155842 | 3,005 | wikipedia | https://en.wikipedia.org/wiki/Parapharyngeal_abscess | 2021-01-18T19:06:40 | {"umls": ["C0155842"], "icd-10": ["J39.0"], "wikidata": ["Q16682714"]} |
Traboulsi et al. (1988) described a brother and sister, born to parents related as third cousins, who had pigmentary retinopathy in a pericentral distribution. The retinopathy was noted in infancy when the sibs were examined for strabismus. The optic discs, maculae, and retinal vessels were normal. Both sibs had mode... | RETINOPATHY, PERICENTRAL PIGMENTARY, AUTOSOMAL RECESSIVE | c0035334 | 3,006 | omim | https://www.omim.org/entry/268060 | 2019-09-22T16:22:40 | {"doid": ["0110422"], "mesh": ["D012174"], "omim": ["268060"], "orphanet": ["791"], "synonyms": ["Alternative titles", "RETINITIS PIGMENTOSA, PERICENTRAL"]} |
Disease of mental health where symptoms are deliberately produced, feigned or exaggerated
This article needs attention from an expert in psychology. See the talk page for details. WikiProject Psychology may be able to help recruit an expert. (April 2012)
Factitious disorder
SpecialtyPsychiatry, psychology
... | Factitious disorder | c0233752 | 3,007 | wikipedia | https://en.wikipedia.org/wiki/Factitious_disorder | 2021-01-18T18:28:15 | {"mesh": ["D005162"], "umls": ["C0233752", "C0015481"], "wikidata": ["Q2686385"]} |
Nevoid hypertrichosis
SpecialtyDermatology
Nevoid hypertrichosis is a cutaneous condition characterized by the growth of terminal hairs in a circumscribed area.[1]
## See also[edit]
* Onychauxis
* List of cutaneous conditions
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo,... | Nevoid hypertrichosis | c0018508 | 3,008 | wikipedia | https://en.wikipedia.org/wiki/Nevoid_hypertrichosis | 2021-01-18T18:33:24 | {"wikidata": ["Q7004995"]} |
Kindler syndrome
Other namesCongenital poikiloderma with blisters and keratoses,[1] Congenital poikiloderma with bullae and progressive cutaneous atrophy,[1] Hereditary acrokeratotic poikiloderma,[1] Hyperkeratosis–hyperpigmentation syndrome,[2]:511 Acrokeratotic poikiloderma, Weary–Kindler syndrome[3]:558
Ki... | Kindler syndrome | c0406557 | 3,009 | wikipedia | https://en.wikipedia.org/wiki/Kindler_syndrome | 2021-01-18T18:44:37 | {"gard": ["4391"], "mesh": ["C536321"], "icd-10": ["Q82.8"], "orphanet": ["306539"], "wikidata": ["Q1741965"]} |
Aggressive infantile fibromatosis is a locally recurring, non-metastasizing lesion, presenting with a single or multiple fast-growing masses that are present at birth or occur within the first year of life.[1]:607[2]
## See also[edit]
* Infantile digital fibromatosis
* Skin lesion
## References[edit]
1.... | Aggressive infantile fibromatosis | c0406580 | 3,010 | wikipedia | https://en.wikipedia.org/wiki/Aggressive_infantile_fibromatosis | 2021-01-18T19:01:51 | {"wikidata": ["Q4692278"]} |
Osteofibrous dysplasia is a rare, non-cancerous (benign) tumor that affects the long bones. It usually develops in children and adolescents. The most common location is the middle part of the tibia (shin), although the fibula (a smaller bone in the calf) and the long bones in the arm (humerus, radius, or ulna) ma... | Osteofibrous dysplasia | c4085248 | 3,011 | gard | https://rarediseases.info.nih.gov/diseases/10887/osteofibrous-dysplasia | 2021-01-18T17:58:33 | {"omim": ["607278", "137575"], "orphanet": ["435329"], "synonyms": ["Intracortical fibrous dysplasia", "Multiple ossifying fibroma", "Ossifying fibroma", "Jaffe-Campanacci syndrome"]} |
Tangential speech or tangentiality is a communication disorder in which the train of thought of the speaker wanders and shows a lack of focus, never returning to the initial topic of the conversation.[1] It tends to occur in situations where a person is experiencing high anxiety, as a manifestation of the psychosis k... | Tangential speech | None | 3,012 | wikipedia | https://en.wikipedia.org/wiki/Tangential_speech | 2021-01-18T18:59:33 | {"wikidata": ["Q7682883"]} |
## Summary
### Clinical characteristics.
Branchiootorenal spectrum disorder (BORSD) is characterized by malformations of the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment, branchial fistulae and cysts, and renal malformations ranging from mild renal hypoplasia t... | Branchiootorenal Spectrum Disorder | None | 3,013 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1380/ | 2021-01-18T21:39:01 | {"synonyms": []} |
Acute myelomonocytic leukemia (AMML) is a cancer that typically develops in the bone marrow and blood of older individuals. AMML is one type of acute myeloid leukemia, a group of blood cancers that occur when the amount of white blood cells increases rapidly. Symptoms of AMML often include fatigue (due to anemia) or ... | Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) | c0023479 | 3,014 | gard | https://rarediseases.info.nih.gov/diseases/536/acute-myeloid-leukemia-with-abnormal-bone-marrow-eosinophils-inv16p13q22-or-t1616p13q22 | 2021-01-18T18:02:18 | {"mesh": ["D015479"], "umls": ["C0023479"], "orphanet": ["98829"], "synonyms": ["AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)", "AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22)", "CBFB-MYH11", "Acute myelomonocytic leukemia "]} |
Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fift... | Finnish upper limb-onset distal myopathy | c1864706 | 3,015 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=399086 | 2021-01-23T18:20:33 | {"mesh": ["C566445"], "omim": ["610099"], "umls": ["C1864706"], "icd-10": ["G71.0"], "synonyms": ["Distal myopathy type 3", "MPD3"]} |
Functional constipation
Other namesChronic idiopathic constipation
Functional constipation, known as chronic idiopathic constipation (CIC), is constipation that does not have a physical (anatomical) or physiological (hormonal or other body chemistry) cause. It may have a neurological, psychological or psychoso... | Functional constipation | c0401146 | 3,016 | wikipedia | https://en.wikipedia.org/wiki/Functional_constipation | 2021-01-18T18:35:02 | {"wikidata": ["Q5508805"]} |
UV-sensitive syndrome
Other namesUVSS
This condition is inherited in an autosomal recessive manner.
SpecialtyDermatology
UV-sensitive syndrome is a cutaneous condition inherited in an autosomal recessive fashion, characterized by photosensitivity and solar lentigines.[1] Recent research identified that mut... | UV-sensitive syndrome | c3551173 | 3,017 | wikipedia | https://en.wikipedia.org/wiki/UV-sensitive_syndrome | 2021-01-18T18:53:21 | {"gard": ["10947"], "mesh": ["563466"], "umls": ["C3551173"], "orphanet": ["178338"], "wikidata": ["Q7876086"]} |
Not to be confused with bronchitis, bronchiolitis obliterans, or bronchiolitis obliterans organizing pneumonia.
Blockage of the small airways in the lungs due to a viral infection
Bronchiolitis
An X-ray of a child with RSV showing the typical bilateral perihilar fullness of bronchiolitis.
SpecialtyEmergency... | Bronchiolitis | c0006271 | 3,018 | wikipedia | https://en.wikipedia.org/wiki/Bronchiolitis | 2021-01-18T18:32:52 | {"mesh": ["D001988"], "umls": ["C0006271"], "icd-9": ["466.1"], "icd-10": ["J21"], "wikidata": ["Q424227"]} |
## Summary
### Clinical characteristics.
Costeff syndrome is characterized by optic atrophy and/or choreoathetoid movement disorder with onset before age ten years. Optic atrophy is associated with progressive decrease in visual acuity within the first years of life, sometimes associated with infantile-onset ho... | Costeff Syndrome | c0574084 | 3,019 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1473/ | 2021-01-18T21:32:37 | {"mesh": ["C535311"], "synonyms": ["3-Methylglutaconic Aciduria Type 3", "OPA3 Defect"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive nonsyndromic mental retardation-2 (MRT2) is caused by homozygous mutation in the gene encoding cereblon (CRBN; 609262) on chromosome 3p26.
Clinical Features
Higgins et al. (2000) used a private genealogic database to reconstruct ... | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2 | c1843942 | 3,020 | omim | https://www.omim.org/entry/607417 | 2019-09-22T16:09:18 | {"doid": ["0060308"], "mesh": ["C564404"], "omim": ["607417"], "orphanet": ["88616"], "synonyms": ["Alternative titles", "NS-ARID", "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2A", "AR-NSID"]} |
Bond et al. (1970) made the following observations: Methane (CH4) in man is derived solely from the metabolism of the colonic flora. Respiratory CH4 excretion is a simple but reliable indicator of intestinal CH4 production. In the adult population about one-third excrete large amounts of CH4 whereas the others excret... | METHANE PRODUCTION | None | 3,021 | omim | https://www.omim.org/entry/250650 | 2019-09-22T16:25:16 | {"omim": ["250650"]} |
A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less ... | Fetal trimethadione syndrome | c0265373 | 3,022 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1913 | 2021-01-23T18:26:09 | {"mesh": ["C537798"], "umls": ["C0265373"], "icd-10": ["Q86.8"]} |
A number sign (#) is used with this entry because deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome (DOORS) is caused by homozygous or compound heterozygous mutation in the TBC1D24 gene (613577) on chromosome 16p13.
Description
The DOOR syndrome is an acronym for deafness, onychod... | DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME | c0795927 | 3,023 | omim | https://www.omim.org/entry/220500 | 2019-09-22T16:28:58 | {"mesh": ["C538204"], "omim": ["220500"], "orphanet": ["3231", "79500"], "synonyms": ["DOOR SYNDROME", "Alternative titles", "DIGITORENOCEREBRAL SYNDROME", "DRC SYNDROME", "BRACHYDACTYLY DUE TO ABSENCE OF DISTAL PHALANGES", "ERONEN SYNDROME"], "genereviews": ["NBK274566"]} |
See also: polyuria
Frequent urination
Other namesUrinary frequency
SpecialtyUrology
Frequent urination is the need to urinate more often than usual. Diuretics are medications that will increase urinary frequency. Nocturia is the need of frequent urination at night.[1] The most common cause of urinary freque... | Frequent urination | c0042023 | 3,024 | wikipedia | https://en.wikipedia.org/wiki/Frequent_urination | 2021-01-18T18:46:10 | {"umls": ["C0042023"], "wikidata": ["Q352585"]} |
Congenital hypoplastic anemia
Other namesConstitutional aplastic anemia
SpecialtyHematology
Congenital hypoplastic anemia is a type of aplastic anemia which is primarily due to a congenital disorder.
Associated genes include TERC, TERT, IFNG, NBS1, PRF1, and SBDS.[1]
Examples include:
* Fanconi anem... | Congenital hypoplastic anemia | c0949116 | 3,025 | wikipedia | https://en.wikipedia.org/wiki/Congenital_hypoplastic_anemia | 2021-01-18T18:58:49 | {"gard": ["6149"], "mesh": ["D029502"], "umls": ["C0702159", "C0949116"], "orphanet": ["68383"], "wikidata": ["Q5160440"]} |
Not to be confused with Psychosis.
Sycosis is an inflammation of hair follicles, especially of the beard area,[1][2][3] and generally classified as papulopustular[1][3] and chronic.[2]
## Types[edit]
Types include:
* Sycosis barbae
* Lupoid sycosis
* Tinea sycosis
* Herpetic sycosis
## References[edi... | Sycosis | c0039023 | 3,026 | wikipedia | https://en.wikipedia.org/wiki/Sycosis | 2021-01-18T18:37:46 | {"mesh": ["D005499"], "umls": ["C0039023"], "wikidata": ["Q2346445"]} |
Vitamin D-dependent rickets is a disorder of bone development that leads to softening and weakening of the bones (rickets). There are several forms of the condition that are distinguished primarily by their genetic causes: type 1A (VDDR1A), type 1B (VDDR1B), and type 2A (VDDR2A). There is also evidence of a very ... | Vitamin D-dependent rickets | c0268689 | 3,027 | medlineplus | https://medlineplus.gov/genetics/condition/vitamin-d-dependent-rickets/ | 2021-01-27T08:24:43 | {"mesh": ["C562688"], "omim": ["264700", "600081", "277440", "600785"], "synonyms": []} |
A number sign (#) is used with this entry because autosomal recessive severe congenital neutropenia-6 (SCN6) is caused by homozygous mutation in the JAGN1 gene (616012) on chromosome 3p25.
For a phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700).
Cli... | NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE | c4014954 | 3,028 | omim | https://www.omim.org/entry/616022 | 2019-09-22T15:50:12 | {"omim": ["616022"], "orphanet": ["423384"], "synonyms": []} |
## Description
Keloid is a dermal fibroproliferative growth caused by pathologic wound healing following skin injury. Keloid is defined as a scar growing continuously and invasively beyond the confines of the original wound and is characterized by excessive fibroblast proliferation and deposition of extracellular m... | KELOID FORMATION | c3149494 | 3,029 | omim | https://www.omim.org/entry/148100 | 2019-09-22T16:39:19 | {"omim": ["148100"]} |
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: "Congestive hepatopathy" – news · newspaper... | Congestive hepatopathy | c0156195 | 3,030 | wikipedia | https://en.wikipedia.org/wiki/Congestive_hepatopathy | 2021-01-18T18:38:37 | {"umls": ["C0156195"], "wikidata": ["Q2334877"]} |
A number sign (#) is used with this entry because of evidence that familial focal epilepsy with variable foci-3 (FFEVF3) is caused by heterozygous mutation in the NPRL3 gene (600928) on chromosome 16p13.
Description
Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy cha... | EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3 | c4310708 | 3,031 | omim | https://www.omim.org/entry/617118 | 2019-09-22T15:46:46 | {"omim": ["617118"], "orphanet": ["98820"], "synonyms": ["FFEVF", "Familial partial epilepsy with variable foci"]} |
For a discussion of genetic heterogeneity of quantitative trait loci for stature (STQTL), see STQTL1 (606255).
Mapping
Hirschhorn et al. (2001) analyzed genomewide scans in 4 populations using a variance-components method, using stature as a quantitative trait locus, and found strong evidence for linkage to chromos... | STATURE QUANTITATIVE TRAIT LOCUS 3 | c1853475 | 3,032 | omim | https://www.omim.org/entry/606257 | 2019-09-22T16:10:34 | {"omim": ["606257"]} |
Lymphomatoid granulomatosis
SpecialtyHematology and oncology
Lymphomatoid granulomatosis (LYG or LG) is a very rare lymphoproliferative disorder first characterized in 1972.[1] Lymphomatoid means lymphoma-like and granulomatosis denotes the microscopic characteristic of the presence of granulomas with polymorp... | Lymphomatoid granulomatosis | c0024307 | 3,033 | wikipedia | https://en.wikipedia.org/wiki/Lymphomatoid_granulomatosis | 2021-01-18T19:05:42 | {"gard": ["6943"], "mesh": ["D008230"], "umls": ["C0024307"], "orphanet": ["86869"], "wikidata": ["Q3775784"]} |
A number sign (#) is used with this entry because of evidence that Galloway-Mowat syndrome-3 (GAMOS3) is caused by homozygous or compound heterozygous mutation in the OSGEP gene (610107) on chromosome 14q11.
Description
Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic... | GALLOWAY-MOWAT SYNDROME 3 | c0795949 | 3,034 | omim | https://www.omim.org/entry/617729 | 2019-09-22T15:45:00 | {"doid": ["0080245"], "mesh": ["C537548"], "omim": ["617729"], "orphanet": ["2065"]} |
Autosomal recessive multiple epiphyseal dysplasia
Autosomal recessive multiple epiphyseal dysplasia has an autosomal recessive pattern of inheritance.
Autosomal recessive multiple epiphyseal dysplasia (ARMED), also called epiphyseal dysplasia, multiple, 4 (EDM4), multiple epiphyseal dysplasia with clubfoot or ... | Autosomal recessive multiple epiphyseal dysplasia | c1847593 | 3,035 | wikipedia | https://en.wikipedia.org/wiki/Autosomal_recessive_multiple_epiphyseal_dysplasia | 2021-01-18T18:34:48 | {"gard": ["9793"], "mesh": ["C535504"], "wikidata": ["Q3042144"]} |
Cap myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most severely affected in the muscles of the face, neck, and limbs. The... | Cap myopathy | c1836448 | 3,036 | medlineplus | https://medlineplus.gov/genetics/condition/cap-myopathy/ | 2021-01-27T08:25:22 | {"gard": ["11915"], "mesh": ["C538348"], "omim": ["609284", "609285"], "synonyms": []} |
A number sign (#) is used with this entry Potocki-Shaffer syndrome is a contiguous gene deletion syndrome involving genes on chromosome 11p11.2.
Description
Potocki-Shaffer syndrome is a rare contiguous gene deletion syndrome due to haploinsufficiency of the 11p12-p11.2 region and is characterized by craniofacial a... | POTOCKI-SHAFFER SYNDROME | c1832588 | 3,037 | omim | https://www.omim.org/entry/601224 | 2019-09-22T16:15:13 | {"mesh": ["C538356"], "omim": ["601224"], "orphanet": ["52022"], "synonyms": ["Alternative titles", "PSS", "CHROMOSOME 11p11.2 DELETION SYNDROME", "PROXIMAL 11p DELETION SYNDROME", "DEFECT11 SYNDROME"]} |
New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respi... | New-onset refractory status epilepticus | None | 3,038 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363558 | 2021-01-23T17:57:39 | {"gard": ["12244"], "icd-10": ["G41.8"], "synonyms": ["NORSE"]} |
A number sign (#) is used with this entry because of evidence that optic atrophy-9 (OPA9) is caused by compound heterozygous mutation in the ACO2 gene (100850) on chromosome 22q13. One such family has been reported.
For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500).
Clinical Features
Me... | OPTIC ATROPHY 9 | c4225384 | 3,039 | omim | https://www.omim.org/entry/616289 | 2019-09-22T15:49:21 | {"omim": ["616289"], "orphanet": ["98676"], "synonyms": ["Autosomal recessive non-syndromic optic atrophy"]} |
Extragonadal germinoma is a rare, malignant germ cell tumor that occur in the midline of the body as a result of abnormal germ cell migration during embryogenesis. Clinical manifestations are variable and depend on the location and size of the tumor. Central nervous system tumor might present with headache, visual di... | Extragonadal germinoma | c0206660 | 3,040 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=182127 | 2021-01-23T18:33:42 | {"gard": ["2005"], "mesh": ["D018237"], "umls": ["C0206660"]} |
A rare, progressive metabolic liver disease due to marked to complete lysosomal acid lipase deficiency and characterized by dyslipidemia and massive lipid accumulation leading to hepatomegaly and liver dysfunction, splenomegaly, accelerated atherosclerosis.
## Epidemiology
Based on allele frequency, worldwide birth... | Lysosomal acid lipase deficiency | c2936797 | 3,041 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=275761 | 2021-01-23T18:24:51 | {"gard": ["12097"], "mesh": ["C531854"], "omim": ["278000"], "umls": ["C2936797"], "icd-10": ["E75.5"], "synonyms": ["LAL deficiency"]} |
Juvenile myoclonic epilepsy is an epilepsy syndrome characterized by myoclonic jerks (quick jerks of the arms or legs), generalized tonic-clonic seizures (GTCSs), and sometimes, absence seizures. The seizures of juvenile myoclonic epilepsy often occur when people first awaken in the morning. Seizures can be triggered... | Juvenile myoclonic epilepsy | c0270853 | 3,042 | gard | https://rarediseases.info.nih.gov/diseases/6808/juvenile-myoclonic-epilepsy | 2021-01-18T17:59:39 | {"mesh": ["D020190"], "omim": ["254770"], "umls": ["C0270853"], "synonyms": ["Petit mal, impulsive", "JME", "EJM", "Janz syndrome", "Myoclonic epilepsy, juvenile, 1"]} |
Sea-blue histiocytosis, also known as inherited lipemic splenomegaly, is an extremely rare condition characterized by elevated triglyceride levels (hypertriglyceridemia) and an enlarged spleen (splenomegaly). The disorder is so named because certain white blood cells, known as histiocytes, appear bright blue when sta... | Sea-Blue histiocytosis | c0036489 | 3,043 | gard | https://rarediseases.info.nih.gov/diseases/8241/sea-blue-histiocytosis | 2021-01-18T17:57:47 | {"mesh": ["D012618"], "omim": ["269600"], "umls": ["C0036489"], "orphanet": ["158029"], "synonyms": ["Histiocytosis, sea-blue", "Sea-Blue histiocyte disease", "Inherited Lipemic Splenomegaly"]} |
A subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scolio... | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | c1836485 | 3,044 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99947 | 2021-01-23T17:30:08 | {"mesh": ["C563757"], "omim": ["609260"], "umls": ["C1836485"], "icd-10": ["G60.0"], "synonyms": ["CMT2A2"]} |
Congenital cytomegalovirus infection
Micrograph of a cytomegalovirus (CMV) infection of the placenta (CMV placentitis). The characteristic large nucleus of a CMV infected cell is seen off-centre at the bottom-right of the image. H&E stain
SpecialtyPediatrics
Congenital cytomegalovirus (CMV) infection refers ... | Congenital cytomegalovirus infection | c0349499 | 3,045 | wikipedia | https://en.wikipedia.org/wiki/Congenital_cytomegalovirus_infection | 2021-01-18T19:04:53 | {"gard": ["1480", "1409"], "umls": ["C0349499"], "icd-9": ["771.1"], "icd-10": ["P35.1"], "orphanet": ["294"], "wikidata": ["Q5160416"]} |
Letterer–Siwe disease
Other namesAcute and disseminated Langerhans cell histiocytosis
This condition is inherited in an autosomal recessive manner
SpecialtyOncology
Letterer–Siwe disease is one of the four recognized clinical syndromes of Langerhans cell histiocytosis (LCH). It causes approximately 10%... | Letterer–Siwe disease | c0023381 | 3,046 | wikipedia | https://en.wikipedia.org/wiki/Letterer%E2%80%93Siwe_disease | 2021-01-18T18:46:16 | {"mesh": ["C538636"], "umls": ["C0023381"], "icd-9": ["202.50"], "icd-10": ["C96.0"], "orphanet": ["99870"], "wikidata": ["Q6533637"]} |
Psychotic depression
Other namesDepressive psychosis
Drawing depicting the sadness and the detachment from reality that people with psychotic depression have
SpecialtyPsychiatry
SymptomsHallucinations, delusions, anhedonia, psychomotor retardation, sleep problems,[1]
ComplicationsSuicide, self-harm
Us... | Psychotic depression | c0743072 | 3,047 | wikipedia | https://en.wikipedia.org/wiki/Psychotic_depression | 2021-01-18T19:00:17 | {"icd-9": ["298.0"], "wikidata": ["Q2914583"]} |
Davison and Rabiner (1940) described 2 brothers and a sister with onset of symptoms in the late 20s. Autopsy was performed in one. It is not clear that an entity distinct from others discussed here was involved.
Misc \- Third decade onset Neuro \- Corticopallidodegeneration \- Disseminated encephalomyelopathy \- ... | SPASTIC PSEUDOSCLEROSIS | c0599464 | 3,048 | omim | https://www.omim.org/entry/270900 | 2019-09-22T16:22:14 | {"mesh": ["C563024"], "omim": ["270900"], "synonyms": ["Alternative titles", "DISSEMINATED ENCEPHALOMYELOPATHY", "CORTICOPALLIDODEGENERATION"]} |
Jaw cysts
SpecialtyOral and Maxillofacial Surgery, Dentistry
A cyst is a pathological epithelial lined cavity that fills with fluid or soft material and usually grows from internal pressure generated by fluid being drawn into the cavity from osmosis (hydrostatic pressure). The bones of the jaws, the mandible a... | Cysts of the jaws | c0022361 | 3,049 | wikipedia | https://en.wikipedia.org/wiki/Cysts_of_the_jaws | 2021-01-18T19:02:51 | {"mesh": ["D007570"], "wikidata": ["Q17085172"]} |
A number sign (#) is used with this entry because of evidence that Gillessen-Kaesbach-Nishimura syndrome (GIKANIS) is caused by homozygous mutation in the ALG9 gene (606941) on chromosome 11q23.
Homozygous mutation in the ALG9 gene can also cause congenital disorder of glycosylation type Il (CDG1L; 608776).
Des... | GILLESSEN-KAESBACH-NISHIMURA SYNDROME | c2931006 | 3,050 | omim | https://www.omim.org/entry/263210 | 2019-09-22T16:23:18 | {"mesh": ["C535750"], "omim": ["263210"], "orphanet": ["79328"], "synonyms": ["Alternative titles", "POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE, WITH MICROBRACHYCEPHALY, HYPERTELORISM, AND BRACHYMELIA"]} |
Eczema herpeticum
SpecialtyInfectious disease
Eczema herpeticum is a rare but severe disseminated infection that generally occurs at sites of skin damage produced by, for example, atopic dermatitis, burns, long term usage of topical steroids or eczema.[1] It is also known as Kaposi varicelliform eruption, Pust... | Eczema herpeticum | c0936250 | 3,051 | wikipedia | https://en.wikipedia.org/wiki/Eczema_herpeticum | 2021-01-18T19:08:18 | {"mesh": ["D007617"], "umls": ["C0854331", "C0936250", "C0153037"], "wikidata": ["Q3718816"]} |
Abnormally reduced sweating
Hypohidrosis
SpecialtyDermatology, neurology
Prognosishyperthermia, heat stroke and death
Hypohidrosis is a disorder in which a person exhibits diminished sweating in response to appropriate stimuli. In contrast with hyperhidrosis, which is a socially troubling yet often beni... | Hypohidrosis | c0003028 | 3,052 | wikipedia | https://en.wikipedia.org/wiki/Hypohidrosis | 2021-01-18T18:52:52 | {"mesh": ["D007007"], "umls": ["C0003028"], "wikidata": ["Q545408"]} |
Androphy et al. (1985) described a kindred in which a 56-year-old man had EDV, none of his 5 sons or 5 daughters had EDV, and 4 of his grandsons (through 2 daughters) had EDV. All were infected with human papillomavirus 3 (HPV 3) and with HPV 8. The proband, who had onset of warts at age 5 years with no regressio... | EPIDERMODYSPLASIA VERRUCIFORMIS, X-LINKED | c0014522 | 3,053 | omim | https://www.omim.org/entry/305350 | 2019-09-22T16:18:20 | {"mesh": ["D004819"], "omim": ["305350"], "orphanet": ["302"]} |
Acquired pure red cell aplasia (PRCA) is a bone marrow disorder characterized by a reduction of red blood cells (erythrocytes) produced by the bone marrow. Signs and symptoms may include fatigue, lethargy, and/or abnormal paleness of the skin (pallor) due to the anemia the caused by the disorder. In most cases, the c... | Acquired pure red cell aplasia | c0340961 | 3,054 | gard | https://rarediseases.info.nih.gov/diseases/10898/acquired-pure-red-cell-aplasia | 2021-01-18T18:02:21 | {"orphanet": ["98872"], "synonyms": ["Adult pure red cell aplasia", "Idiopathic pure red cell aplasia", "Acquired PRCA"]} |
Erysipeloid
Cellular and colonial morphology of Erysipelothrix rhusiopathiae
Pronunciation
* gram staning or bloog Agar culture
SpecialtyInfectious disease
In humans, Erysipelothrix rhusiopathiae infections most commonly present in a mild cutaneous form known as erysipeloid[1] or fish poisoning.[2... | Erysipeloid | c1276801 | 3,055 | wikipedia | https://en.wikipedia.org/wiki/Erysipeloid | 2021-01-18T19:01:48 | {"mesh": ["D004887"], "icd-9": ["027.1"], "icd-10": ["A26"], "wikidata": ["Q1607983"]} |
Paramyotonia congenita
Other namesParamyotonia congenita of von Eulenburg or Eulenburg disease[1]
This condition is inherited in an autosomal dominant manner
SpecialtyNeurology
Paramyotonia congenita (PC), is a rare congenital autosomal dominant neuromuscular disorder characterized by “paradoxical” myo... | Paramyotonia congenita | c0221055 | 3,056 | wikipedia | https://en.wikipedia.org/wiki/Paramyotonia_congenita | 2021-01-18T18:36:40 | {"gard": ["7325"], "mesh": ["D020967", "C538616"], "umls": ["C1868617"], "icd-9": ["359.2"], "icd-10": ["G71.1"], "orphanet": ["684"], "wikidata": ["Q493103"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive Emery-Dreifuss muscular dystrophy-3 (EDMD3) is caused by homozygous mutation in the LMNA gene (150330) on chromosome 1q21.
Heterozygous mutation in the LMNA gene causes EDMD2 (181350).
Description
Emery-Dreifuss muscular dys... | EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE | c0410189 | 3,057 | omim | https://www.omim.org/entry/616516 | 2019-09-22T15:48:38 | {"doid": ["0070248"], "mesh": ["D020389"], "omim": ["616516"], "orphanet": ["261", "98855"]} |
Prepubertal hypertrichosis
SpecialtyDermatology
Prepubertal hypertrichosis is a cutaneous condition characterized by increased hair growth,[1] and is a relatively common finding in otherwise healthy infants and children, most often occurring in individuals of Mediterranean or South Asian descent.[2]
## See al... | Prepubertal hypertrichosis | None | 3,058 | wikipedia | https://en.wikipedia.org/wiki/Prepubertal_hypertrichosis | 2021-01-18T18:43:11 | {"wikidata": ["Q7240676"]} |
Older age of a mother at conception and its associated health effects
For effects associated with father's age, see Paternal age effect.
Advanced maternal age, in a broad sense, is the instance of a woman being of an older age at a stage of reproduction, although there are various definitions of specific age an... | Advanced maternal age | c0854271 | 3,059 | wikipedia | https://en.wikipedia.org/wiki/Advanced_maternal_age | 2021-01-18T18:51:42 | {"umls": ["C0854271"], "wikidata": ["Q4686351"]} |
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: "Esophageal dysphagia" – news · newspapers · books · scholar · JSTOR (February 2017) (Learn how and when to remove this ... | Esophageal dysphagia | c0267072 | 3,060 | wikipedia | https://en.wikipedia.org/wiki/Esophageal_dysphagia | 2021-01-18T19:04:51 | {"mesh": ["D003680"], "icd-9": ["787.24"], "icd-10": ["R13"], "wikidata": ["Q3533161"]} |
Progressive bifocal chorioretinal dystrophy (PBCRA) is an inherited condition of the eye characterized by a large wasted region of the macula, lesions in the area of the retina closest to the nose (the nasal retina), nystagmus (fast, uncontrollable movements of the eyes), myopia (nearsightedness), poor vision, an... | Progressive bifocal chorioretinal atrophy | c1833321 | 3,061 | gard | https://rarediseases.info.nih.gov/diseases/10123/progressive-bifocal-chorioretinal-atrophy | 2021-01-18T17:58:09 | {"mesh": ["C535356"], "omim": ["600790"], "umls": ["C1833321"], "orphanet": ["75373"], "synonyms": ["Chorioretinal atrophy, progressive bifocal", "PBCRA", "CRAPB"]} |
The costocoracoid ligament (of which an autosomal dominant congenital shortness has been described; see 122580) contains rests of chondrocytes and has the potential to ossify, notably in response to trauma. Spontaneous ossification of the costocoracoid ligament has also been reported. Nutter (1941) found radiologic e... | CORACOCLAVICULAR JOINT, ANOMALOUS | c1852561 | 3,062 | omim | https://www.omim.org/entry/121350 | 2019-09-22T16:43:00 | {"mesh": ["C565161"], "omim": ["121350"]} |
This article does not cite any sources. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Intraocular hemorrhage" – news · newspapers · books · scholar · JSTOR (July 2018) (Learn how and when to remove this template message)
... | Intraocular hemorrhage | c0015402 | 3,063 | wikipedia | https://en.wikipedia.org/wiki/Intraocular_hemorrhage | 2021-01-18T18:53:51 | {"mesh": ["D005130"], "umls": ["C0015402"], "wikidata": ["Q17067160"]} |
This article may require cleanup to meet Wikipedia's quality standards. The specific problem is: the writing style should be improved Please help improve this article if you can. (November 2012) (Learn how and when to remove this template message)
A hand imitating an ulnar claw. The metacarpophalangeal joint... | Ulnar claw | c4025799 | 3,064 | wikipedia | https://en.wikipedia.org/wiki/Ulnar_claw | 2021-01-18T18:32:58 | {"wikidata": ["Q3071050"]} |
## Summary
### Clinical description.
In adults, X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT) is characterized by disproportionately short stature with short trunk and arm span significantly greater than height. At birth, affected males are normal in length and have normal body proportions. Affect... | X-Linked Spondyloepiphyseal Dysplasia Tarda | c3541456 | 3,065 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1145/ | 2021-01-18T20:48:07 | {"mesh": ["D010009"], "synonyms": []} |
Gunal et al. (1993) described 5 members of a family who had osteopoikilosis (166700) in association with dacryocystitis. Inheritance appeared to be autosomal dominant. Chromosome analysis showed normal karyotype in all patients.
Skel \- Osteopoikilosis Inheritance \- Autosomal dominant HEENT \- Dacryocystitis ▲ C... | OSTEOPOIKILOSIS AND DACRYOCYSTITIS | c1833698 | 3,066 | omim | https://www.omim.org/entry/166705 | 2019-09-22T16:36:50 | {"mesh": ["C536061"], "omim": ["166705"], "orphanet": ["1562"]} |
Unilateral choanal atresia is a, usually sporadic, congenital anomaly that is more commonly seen in females than in males (2:1), where the nose is blocked by bony or soft tissue formed during embryologic development on only one side (more commonly on the right side) and which is characterized by nasal obstruction and... | Choanal atresia, unilateral | None | 3,067 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=137917 | 2021-01-23T18:01:00 | {"icd-10": ["Q30.0"]} |
This article is about the disease. For the parasite, see Giardia.
Parasitic disease that results in diarrhea
Giardiasis
Other namesBeaver fever, giardia
Giardia cell, SEM
SpecialtyInfectious disease
SymptomsDiarrhea, abdominal pain, weight loss, nausea[1]
Usual onset1 to 3 weeks after exposure[2]
Causes... | Giardiasis | c0017536 | 3,068 | wikipedia | https://en.wikipedia.org/wiki/Giardiasis | 2021-01-18T18:40:16 | {"mesh": ["D005873"], "umls": ["C0017536"], "wikidata": ["Q326071"]} |
Neonatal autoimmune hemolytic anemia is a very rare, secondary, neonatal autoimmune disease characterized by onset of hemolytic anemia in the neonatal period associated with a positive direct antiglobulin test. Hepatosplenomegaly may be associated.
*[v]: View this template
*[t]: Discuss this template
*[e]:... | Neonatal autoimmune hemolytic anemia | None | 3,069 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=398109 | 2021-01-23T18:23:21 | {"icd-10": ["D59.1"], "synonyms": ["Neonatal AHA", "Neonatal AIHA"]} |
Type of white matter abnormality near the lateral ventricles
Axial T2 FLAIR sequence MR image of a middle-aged man with leukoaraiosis.
MRI image: Leukoaraiosis in a 90-year-old patient with cerebral atrophy.
Head CT showing periventricular white matter lesions.
Leukoaraiosis is a particular abnormal change in app... | Leukoaraiosis | c4020851 | 3,070 | wikipedia | https://en.wikipedia.org/wiki/Leukoaraiosis | 2021-01-18T18:44:45 | {"mesh": ["D049292"], "umls": ["C4020851", "C0948163"], "wikidata": ["Q2123166"]} |
A number sign (#) is used with this entry because of evidence that spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD) is caused by homozygous or compound heterozygous mutation in the gene encoding carbohydrate sulfotransferase-3 (CHST3; 603799) on chromosome 10q22.
Description
Although pat... | SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS | c2931649 | 3,071 | omim | https://www.omim.org/entry/143095 | 2019-09-22T16:40:07 | {"doid": ["0050813"], "mesh": ["C537874"], "omim": ["143095"], "orphanet": ["263463"], "synonyms": ["Alternative titles", "HUMEROSPINAL DYSOSTOSIS", "SPONDYLOEPIPHYSEAL DYSPLASIA, OMANI TYPE", "CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS"], "genereviews": ["NBK62112"]} |
A number sign (#) is used with this entry because of evidence that axonal Charcot-Marie-Tooth disease type 2Z (CMT2Z) is caused by heterozygous mutation in the MORC2 gene (616661) on chromosome 22q12.
Description
Charcot-Marie-Tooth disease type 2Z (CMT2Z) is an autosomal dominant peripheral neuropathy characterize... | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z | c4225243 | 3,072 | omim | https://www.omim.org/entry/616688 | 2019-09-22T15:48:18 | {"doid": ["0110181"], "omim": ["616688"], "orphanet": ["466768"], "synonyms": ["CMT2Z", "Alternative titles", "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2Z", "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Z", "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation"]} |
## Clinical Features
Shirakami et al. (1986) reported plasma fibronectin (135600) deficiency in 8 members of 1 family. Enzyme levels were about half-normal in the deficient persons, who were distributed in 3 generations and 4 sibships. The proband, a 31-year-old woman, had keloids at sites of surgery and burns but ... | PLASMA FIBRONECTIN DEFICIENCY | c2675436 | 3,073 | omim | https://www.omim.org/entry/614101 | 2019-09-22T15:56:28 | {"omim": ["614101"]} |
Florid cemento-osseous dysplasia (FCOD) is a rare fibro-osseous lesion in the jaw that predominantly affects middle-aged women of African descent. It is generally asymptomatic or may manifest with pain and gingival swelling. Radiologically, it is characterized by multiple dense lobulated bone lesions, often symmetric... | Florid cemento-osseous dysplasia | c0555197 | 3,074 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=83451 | 2021-01-23T18:16:26 | {"gard": ["10173"], "mesh": ["C537063"], "umls": ["C0555197"], "icd-10": ["D16.4", "D16.5"], "synonyms": ["Florid osseous dysplasia", "Focal cemento-osseous dysplasia"]} |
Isolated ATP synthase deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and c... | Isolated ATP synthase deficiency | c3276276 | 3,075 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=254913 | 2021-01-23T17:27:49 | {"omim": ["604273", "614053", "615228", "618120", "618683"], "icd-10": ["E88.8"], "synonyms": ["Isolated mitochondrial respiratory chain complex V deficiency"]} |
Urachal diverticulum is the rarest type of congenital urachal anomaly (see this term) resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications.
*[v]: View ... | Urachal diverticulum | c0431743 | 3,076 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=431347 | 2021-01-23T17:37:51 | {"icd-10": ["Q64.4"], "synonyms": ["Vesicourachal diverticulum"]} |
Cor triatriatum is an extremely rare congenital (present at birth) heart defect. The human heart normally has four chambers, two ventricles and two atria. The two atria are normally separated from each other by a partition called the atrial septum and the two ventricles by the ventricle septum. In cor triatriatum the... | Cor triatriatum | c0009995 | 3,077 | gard | https://rarediseases.info.nih.gov/diseases/6194/cor-triatriatum | 2021-01-18T18:01:05 | {"mesh": ["D003310"], "umls": ["C0009995"], "orphanet": ["1463"], "synonyms": ["Triatrial heart"]} |
Rotor syndrome is a relatively mild condition characterized by elevated levels of a substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down. It has an orange-yellow tint, and buildup of this substance can cause yellowing of the skin or whites of the eye... | Rotor syndrome | c0220991 | 3,078 | medlineplus | https://medlineplus.gov/genetics/condition/rotor-syndrome/ | 2021-01-27T08:24:40 | {"gard": ["218"], "mesh": ["D006933"], "omim": ["237450"], "synonyms": []} |
Viral pulmonary disease of humans
Hantavirus pulmonary syndrome
Other namesFour Corners disease
Progression of hantavirus pulmonary syndrome
SpecialtyPulmonology
SymptomsFever, cough, shortness of breath, headaches, muscle pains, lethargy, nausea, diarrhea
ComplicationsRespiratory failure, cardiac failure[... | Hantavirus pulmonary syndrome | c0243025 | 3,079 | wikipedia | https://en.wikipedia.org/wiki/Hantavirus_pulmonary_syndrome | 2021-01-18T18:39:41 | {"gard": ["69"], "mesh": ["D018804"], "umls": ["C0243025"], "icd-10": ["J12.8"], "orphanet": ["319247"], "wikidata": ["Q6137239"]} |
Human disease
Vitamin D deficiency
Other namesHypovitaminosis D
The normal process of Vitamin D absorption
SpecialtyEndocrinology
SymptomsUsually asymptomatic
ComplicationsRickets, osteomalacia, other associated disorders
CausesLack of vitamin D, inadequate sunlight exposure
Risk factorsAge, people... | Vitamin D deficiency | c0042870 | 3,080 | wikipedia | https://en.wikipedia.org/wiki/Vitamin_D_deficiency | 2021-01-18T18:51:53 | {"mesh": ["D014808"], "umls": ["C0042870"], "icd-9": ["268", "268.9"], "icd-10": ["E55"], "wikidata": ["Q4138762"]} |
## Summary
### Clinical characteristics.
Males with deafness-dystonia-optic neuronopathy (DDON) syndrome have prelingual or postlingual sensorineural hearing impairment in early childhood, slowly progressive dystonia or ataxia in the teens, slowly progressive decreased visual acuity from optic atrophy beginning... | Deafness-Dystonia-Optic Neuronopathy Syndrome | c0796074 | 3,081 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1216/ | 2021-01-18T21:31:05 | {"mesh": ["C535808"], "synonyms": ["DDON", "Mohr-Tranebjaerg Syndrome"]} |
A number sign (#) is used with this entry because Bardet-Biedl syndrome-5 (BBS5) is caused by homozygous mutation in the BBS5 gene (603650) on chromosome 2q31.
Description
BBS5 is a ciliopathy associated with severe and early-onset retinal dystrophy, postaxial polydactyly, obesity, renal dysfunction, hypogonadism, ... | BARDET-BIEDL SYNDROME 5 | c0752166 | 3,082 | omim | https://www.omim.org/entry/615983 | 2019-09-22T15:50:19 | {"doid": ["0110127"], "mesh": ["D020788"], "omim": ["615983"], "orphanet": ["110"]} |
A number sign (#) is used with this entry because of evidence that autosomal dominant hereditary motor and sensory neuropathy type VIA with optic atrophy (HMSN6A), also referred to as Charcot-Marie-Tooth disease type 6A (CMT6A), is caused by heterozygous mutation in the mitofusin-2 gene (MFN2; 608507) on chromosome 1... | NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY | c0393807 | 3,083 | omim | https://www.omim.org/entry/601152 | 2019-09-22T16:15:21 | {"doid": ["0080068"], "mesh": ["C562851"], "omim": ["601152"], "orphanet": ["90120"], "synonyms": ["Alternative titles", "HMSN VIA", "NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VI", "PERIPHERAL NEUROPATHY AND OPTIC ATROPHY", "CHARCOT-MARIE-TOOTH DISEASE, TYPE 6A", "CHARCOT-MARIE-TOOTH DISEASE, TYPE 6"]} |
## Inheritance
From twin studies, Rife (1940) had earlier concluded that handedness is a multifactorial trait.
Annett (1964) postulated that right-handedness is an incomplete dominant, or intermediate, i.e., that dominant homozygotes are always right-handed with 'speech highly developed in the left hemisphere.' Re... | HAND SKILL, RELATIVE | None | 3,084 | omim | https://www.omim.org/entry/139900 | 2019-09-22T16:40:26 | {"omim": ["139900"], "synonyms": ["Alternative titles", "HANDEDNESS"]} |
A number sign (#) is used with this entry because Norrie disease (ND) is caused by mutation in the NDP gene (300658), which encodes norrin, on Xp11.
Description
Norrie disease is an X-linked recessive disorder characterized by very early childhood blindness due to degenerative and proliferative changes of the neuro... | NORRIE DISEASE | c0266526 | 3,085 | omim | https://www.omim.org/entry/310600 | 2019-09-22T16:17:33 | {"doid": ["0060844"], "mesh": ["C537849"], "omim": ["310600"], "orphanet": ["649"], "synonyms": ["Alternative titles", "ATROPHIA BULBORUM HEREDITARIA", "EPISKOPI BLINDNESS"], "genereviews": ["NBK1331"]} |
Fetal trimethadione syndrome
Other namesGerman syndrome
Condition is caused by Trimethadione (and paramethadione)
Fetal trimethadione syndrome (also known as paramethadione syndrome, German syndrome, tridione syndrome, among others[1]) is a set of birth defects caused by the administration of the anticonvuls... | Fetal trimethadione syndrome | c0265373 | 3,086 | wikipedia | https://en.wikipedia.org/wiki/Fetal_trimethadione_syndrome | 2021-01-18T18:55:48 | {"mesh": ["C537798"], "umls": ["C0265373"], "orphanet": ["1913"], "wikidata": ["Q5445919"]} |
A rare congenital muscular dystrophy characterized by prominent axial hypotonia, predominantly proximal muscle weakness in upper limbs and distal in lower limbs, joint contractures (initially distal, later proximal), spinal rigidity, and progressive respiratory insufficiency, in the presence of moderately elevate... | Congenital muscular dystrophy due to LMNA mutation | c2750785 | 3,087 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=157973 | 2021-01-23T18:14:47 | {"gard": ["12585"], "mesh": ["C567708"], "omim": ["613205"], "umls": ["C2750785"], "icd-10": ["G71.2"], "synonyms": ["L-CMD", "LMNA-related congenital muscular dystrophy"]} |
Hemoglobin C disease is a condition affecting a protein in the blood (hemoglobin) which transports oxygen throughout the body. Symptoms of this condition can include fatigue, weakness, and anemia. The spleen can also become enlarged as a result of this disease. For many people with this condition, symptoms are relati... | Hemoglobin C disease | c0019021 | 3,088 | gard | https://rarediseases.info.nih.gov/diseases/2640/hemoglobin-c-disease | 2021-01-18T18:00:07 | {"mesh": ["D006445"], "orphanet": ["2132"], "synonyms": ["Hb C disease"]} |
Cockayne syndrome is a rare disease which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. This syndrome also includes failure to thrive in the newborn, very small head (microcephaly), and impaired nervous system development. Other symptoms may include ... | Cockayne syndrome type II | c0751038 | 3,089 | gard | https://rarediseases.info.nih.gov/diseases/1420/cockayne-syndrome-type-ii | 2021-01-18T18:01:15 | {"mesh": ["D003057"], "omim": ["133540"], "orphanet": ["90322"], "synonyms": ["Cockayne syndrome type B", "Cockayne syndrome type 2", "Cockayne syndrome type 2"]} |
IQSEC2 is a genetic condition that causes intellectual disability and sometimes other physical, neurological, or psychiatric symptoms. People with this condition can have seizures that are often difficult to control with medications. Other symptoms may include motor and language development delay, regression of learn... | IQSEC2 | c2931498 | 3,090 | gard | https://rarediseases.info.nih.gov/diseases/13221/iqsec2 | 2021-01-18T17:59:44 | {"mesh": ["C567906"], "omim": ["309530"], "synonyms": ["IQSEC2-related intellectual disability", "IQSEC2-related epilepsy", "X-linked intellectual disability 1/78", "X-linked intellectual disability 1", "X-linked intellectual disability 78"]} |
Harrod syndrome is characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive.
## Epidemiology
So ... | Harrod syndrome | c0795970 | 3,091 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2115 | 2021-01-23T18:30:44 | {"gard": ["2601"], "mesh": ["C535635"], "omim": ["601095"], "icd-10": ["Q87.8"], "synonyms": ["Cranio-facio-digito-genital syndrome"]} |
Sinus pericranii
SpecialtyVascular surgery
Sinus pericranii (SP) is a rare disorder characterized by a congenital (or occasionally, acquired) epicranial venous malformation of the scalp.[1] Sinus pericranii is an abnormal communication between the intracranial and extracranial venous drainage pathways. Treatme... | Sinus pericranii | c0266494 | 3,092 | wikipedia | https://en.wikipedia.org/wiki/Sinus_pericranii | 2021-01-18T19:09:15 | {"mesh": ["D020779"], "wikidata": ["Q9378133"]} |
Nager syndrome is a rare condition that mainly affects the development of the face, hands, and arms. The severity of this disorder varies among affected individuals.
Children with Nager syndrome are born with underdeveloped cheek bones (malar hypoplasia) and a very small lower jaw (micrognathia). They often have an ... | Nager syndrome | c0265245 | 3,093 | medlineplus | https://medlineplus.gov/genetics/condition/nager-syndrome/ | 2021-01-27T08:25:21 | {"gard": ["498"], "mesh": ["C538184"], "omim": ["154400"], "synonyms": []} |
A rare bacterial infectious disease caused by the tick-borne bacterium Rickettsia africae, characterized by acute onset of fever accompanied by myalgia, localized lymphadenitis, and a papulovesicular rash. In most cases at least one, sometimes multiple, inoculation eschars are observed. Clustering of cases is frequen... | African tick typhus | c1320317 | 3,094 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=101334 | 2021-01-23T18:05:11 | {"mesh": ["D000073605"], "icd-10": ["A77.1"]} |
A number sign (#) is used with this entry because of evidence that severe congenital neutropenia-7 (SCN7) is caused by homozygous or compound heterozygous mutation in the CSF3R gene (138971) on chromosome 1p34.
Description
Severe congenital neutropenia-7 is an autosomal recessive immunodeficiency characterized by o... | NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE | c4310764 | 3,095 | omim | https://www.omim.org/entry/617014 | 2019-09-22T15:47:14 | {"omim": ["617014"], "orphanet": ["420702"], "synonyms": []} |
Desbuquois syndrome (DBQD) is a rare type of osteochondrodysplasia (a disorder of the development of bones and cartilage). Characteristics may vary in severity and can include short stature with short extremities, severe joint laxity with dislocation, osteopenia, kyphoscoliosis, distinctive facial characteristics and... | Desbuquois syndrome | c0432242 | 3,096 | gard | https://rarediseases.info.nih.gov/diseases/1818/desbuquois-syndrome | 2021-01-18T18:00:54 | {"mesh": ["C535943"], "omim": ["251450", "615777"], "umls": ["C0432242"], "orphanet": ["1425"], "synonyms": ["DBQD", "Micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification", "Desbuquois dysplasia"]} |
Meconium aspiration syndrome is a pulmonary complication appearing in newborns with a meconium-stained amniotic fluid. Aspirated meconium can interfere with normal breathing by several mechanisms including airway obstruction, chemical irritation, infection and surfactant inactivation and induces more or less severe s... | Meconium aspiration syndrome | c0025048 | 3,097 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=70588 | 2021-01-23T17:52:20 | {"gard": ["10494"], "mesh": ["D008471"], "umls": ["C0025048"], "icd-10": ["P24.0"]} |
Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splittin... | Trichodysplasia-xeroderma syndrome | c1860822 | 3,098 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3361 | 2021-01-23T17:22:21 | {"gard": ["5261"], "mesh": ["C566032"], "omim": ["190360"], "umls": ["C1860822"]} |
Viral cardiomyopathy
SpecialtyCardiology
Viral cardiomyopathy occurs when viral infections cause myocarditis with a resulting thickening of the myocardium and dilation of the ventricles. These viruses include Coxsackie B and adenovirus, echoviruses, influenza H1N1, Epstein-Barr virus, rubella (German measles v... | Viral cardiomyopathy | c1411027 | 3,099 | wikipedia | https://en.wikipedia.org/wiki/Viral_cardiomyopathy | 2021-01-18T19:07:55 | {"umls": ["C1411027", "C3840127"], "wikidata": ["Q17074273"]} |
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