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A rare primary immunodeficiency with autosomal or X-linked recessive inheritance, characterized by atrophy of the thymus in the absence of other congenital abnormalities, with profound T-cell deficiency, while serum immunoglobulin levels are normal or increased. Patients present with chronic or recurrent infections i... | Thymic aplasia | c0152094 | 3,900 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=83471 | 2021-01-23T17:57:25 | {"gard": ["7201"], "mesh": ["C536288"], "omim": ["242700"], "umls": ["C0152094", "C0685894"], "icd-10": ["D81.4"], "synonyms": ["Nezelof syndrome"]} |
A rare, genetic, lypmhoproliferative syndrome characterized by early onset recurrent infections, lymphadenopathy with hepatosplenomegaly and variabe autoimmune disorders, including hemolytic anemia, thrombocytopenia, neutropenia, enteropathy, type I diabetes, scleroderma, arthritis, atopic dermatitis, and inflammator... | STAT3-related early-onset multisystem autoimmune disease | c4014795 | 3,901 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=438159 | 2021-01-23T16:56:42 | {"omim": ["615952"], "icd-10": ["M35.8"]} |
A rare otorhinolaryngological malformation characterized by a hypoplastic or absent cochlear nerve, resulting in variable hearing loss or total deafness, depending on the quantity of nerve fibers present. The condition can be unilateral or bilateral, occur as an isolated malformation or in the context of a complex sy... | Cochlear nerve deficiency | None | 3,902 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=502318 | 2021-01-23T17:23:33 | {} |
Urachal cancer
Micrograph of urachal carcinoma (right of image) and non-malignant urothelium (left of image). H&E stain.
SpecialtyOncology
Urachal cancer is a very rare type of cancer arising from the urachus or its remnants.[1] The disease might arise from metaplasic glandular epithelium or embryonic epithe... | Urachal cancer | c0153615 | 3,903 | wikipedia | https://en.wikipedia.org/wiki/Urachal_cancer | 2021-01-18T18:57:48 | {"gard": ["7836"], "mesh": ["C536475"], "umls": ["C0153615"], "wikidata": ["Q7899541"]} |
Lattice corneal dystrophy type I is an eye disorder that affects the clear, outer covering of the eye called the cornea. The cornea must remain clear for an individual to see properly; however, in lattice corneal dystrophy type I, protein clumps known as amyloid deposits cloud the cornea, which leads to vision im... | Lattice corneal dystrophy type I | c1690006 | 3,904 | medlineplus | https://medlineplus.gov/genetics/condition/lattice-corneal-dystrophy-type-i/ | 2021-01-27T08:25:34 | {"gard": ["9678"], "mesh": ["C537881"], "omim": ["122200"], "synonyms": []} |
Pleomorphic lipoma
SpecialtyOncology
Pleomorphic lipomas, like spindle-cell lipomas, occur for the most part on the backs and necks of elderly men, and are characterized by floret giant cells with overlapping nuclei.[1]:625
## See also[edit]
* Lipoma
* Skin lesion
* List of cutaneous conditions
## Ref... | Pleomorphic lipoma | c0205823 | 3,905 | wikipedia | https://en.wikipedia.org/wiki/Pleomorphic_lipoma | 2021-01-18T18:32:26 | {"mesh": ["D008067"], "umls": ["C0205823"], "wikidata": ["Q7204592"]} |
Cerebrovascular disorder
Intracranial aneurysm
Other namesCerebral aneurysm, brain aneurism, brain aneurysm, cerebral aneurism
Aneurysm of the basilar artery and the vertebral arteries.
SpecialtyInterventional neuroradiology, neurosurgery
SymptomsNone, severe headache, visual problems, nausea and vomitin... | Intracranial aneurysm | c0007766 | 3,906 | wikipedia | https://en.wikipedia.org/wiki/Intracranial_aneurysm | 2021-01-18T19:03:38 | {"mesh": ["D002532"], "umls": ["C0007766"], "icd-9": ["437.3"], "icd-10": ["I67.1"], "wikidata": ["Q1198391"]} |
Psychiatrist Aaron T. Beck who laid the groundwork for research on cognitive distortion.
An exaggerated or irrational thought pattern involved in the onset or perpetuation of psychopathological states
A cognitive distortion is an exaggerated or irrational thought pattern involved in the onset or perpetuation of... | Cognitive distortion | None | 3,907 | wikipedia | https://en.wikipedia.org/wiki/Cognitive_distortion | 2021-01-18T19:05:01 | {"wikidata": ["Q2914540"]} |
Lymphatic filariasis (LF) is a severe form of filariasis (see this term), caused by the parasitic worms Wuchereria bancrofti, Brugia malayi and Brugia timori, and the most common cause of acquired lymphedema worldwide. LF is endemic to tropical and subtropical regions. The vast majority of infected patients are a... | Lymphatic filariasis | c0013884 | 3,908 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2035 | 2021-01-23T17:27:27 | {"gard": ["3321"], "mesh": ["D004605"], "umls": ["C0013884"], "icd-10": ["B74.0", "B74.1", "B74.2"]} |
A number sign (#) is used with this entry because of evidence that dilated cardiomyopathy-1NN (CMD1NN) is caused by heterozygous mutation in the RAF1 gene (164760) on chromosome 3p25.
For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200).
Clinic... | CARDIOMYOPATHY, DILATED, 1NN | c0340427 | 3,909 | omim | https://www.omim.org/entry/615916 | 2019-09-22T15:50:34 | {"doid": ["0110432"], "mesh": ["C536231"], "omim": ["615916"], "orphanet": ["154"]} |
Q fever is a worldwide disease with acute and chronic stages caused by the bacteria known as Coxiella burnetii. Cattle, sheep, and goats are the primary reservoirs although a variety of species may be infected. Organisms are excreted in birth fluids, milk, urine, and feces of infected animals and are able to survive ... | Q fever | c0034362 | 3,910 | gard | https://rarediseases.info.nih.gov/diseases/7515/q-fever | 2021-01-18T17:58:01 | {"mesh": ["D011778"], "orphanet": ["781"], "synonyms": ["Q fever pneumonia", "Coxiella Burnetii fever", "Query fever"]} |
A rare, lethal type of achondrogenesis characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.
*[v]: View... | Achondrogenesis type 1B | c0265274 | 3,911 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93298 | 2021-01-23T18:55:24 | {"gard": ["460"], "mesh": ["C536016"], "omim": ["600972"], "umls": ["C0265274"], "icd-10": ["Q77.0"], "synonyms": ["Achondrogenesis, Parenti-Fraccaro type"]} |
Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by congenital, persistent microcephaly, low birth weight, short stature, childhood-onset seizures, global development delay, mild intellectual disability, and ad... | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | c4014997 | 3,912 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=391408 | 2021-01-23T16:56:54 | {"omim": ["616033", "616817"], "icd-10": ["Q87.8"]} |
For a discussion of the genetic heterogeneity in serum adiponectin levels, see ADIPQTL1 (612556).
Mapping
Adiponectin (ADIPOQ; 605441) is an exclusively adipocyte-derived protein expressed inversely to total fat and is thought to play a role in mediating the obesity-related risk for coronary artery disease and type... | ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2 | c1847530 | 3,913 | omim | https://www.omim.org/entry/606770 | 2019-09-22T16:10:02 | {"omim": ["606770"], "synonyms": ["Alternative titles", "CIRCULATING ADIPONECTIN QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 5"]} |
A rare urogenital tract malformation characterized by the complete absence of the scrotal rugae in the perineum between the penis and anus, with bilateral testes being present in a cryptorchid or ectopic position. Hemiscrotal agenesis refers to the unilateral absence of scrotal skin with an intact midline raphe and i... | Congenital agenesis of the scrotum | None | 3,914 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=495879 | 2021-01-23T17:12:10 | {"synonyms": ["Congenital absence of the scrotum", "Congenital scrotal absence", "Congenital scrotal agenesis"]} |
Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trab... | Severe lateral tibial bowing with short stature | c4707850 | 3,915 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=324307 | 2021-01-23T17:09:52 | {"icd-10": ["Q68.4"]} |
Blood clot (thrombus) that forms within a vein
Venous thrombosis
A deep vein thrombosis in the right leg. There is striking redness and swelling.
SpecialtyHematology, pulmonology, cardiology
Frequency1-2 per 1,000 per year[1]
Venous thrombosis is thrombosis in a vein, caused by a thrombus (blood clot). Th... | Venous thrombosis | c0149871 | 3,916 | wikipedia | https://en.wikipedia.org/wiki/Venous_thrombosis | 2021-01-18T18:49:19 | {"mesh": ["D020246"], "umls": ["C0149871"], "icd-9": ["453"], "icd-10": ["I80", "I82"], "wikidata": ["Q2751330"]} |
Cutis rhomboidalis nuchae
SpecialtyDermatology
Cutis rhomboidalis nuchae is a skin condition of the posterior neck, characterized by deep furrowing of the skin.[1]
## See also[edit]
* List of cutaneous conditions
* Poikiloderma of Civatte
* Solar elastosis
## References[edit]
1. ^ Rapini, Ronal... | Cutis rhomboidalis nuchae | c0263416 | 3,917 | wikipedia | https://en.wikipedia.org/wiki/Cutis_rhomboidalis_nuchae | 2021-01-18T18:55:22 | {"umls": ["C0263416"], "icd-10": ["L57.2"], "wikidata": ["Q5196859"]} |
## Summary
### Clinical characteristics.
Lymphedema-distichiasis syndrome (referred to as LDS in this GeneReview) is characterized by lower-limb lymphedema, and distichiasis (aberrant eyelashes ranging from a full set of extra eyelashes to a single hair). Lymphedema typically appears in late childhood or pubert... | Lymphedema-Distichiasis Syndrome | c0265345 | 3,918 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1457/ | 2021-01-18T21:14:19 | {"mesh": ["C537710"], "synonyms": []} |
Spondylosis deformans
Patient with spondylosis deformans
Spondylosis deformans is a disease of spine in humans and other vertebrates. It occurs when intervertebral discs begin to degenerate, leading to the formation of bony spurs or bridges around the disc and nearby spinal joints. Severe cases can result in p... | Spondylosis deformans | c0038020 | 3,919 | wikipedia | https://en.wikipedia.org/wiki/Spondylosis_deformans | 2021-01-18T19:06:23 | {"mesh": ["D055009"], "umls": ["C0038020"], "wikidata": ["Q48834903"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to age-related macular degeneration-13 (ARMD13) is conferred by heterozygous mutation in the CFI gene (217030) on chromosome 4q25.
Description
Age-related macular degeneration (ARMD) is a multifactorial disorder of the central ret... | MACULAR DEGENERATION, AGE-RELATED, 13 | c3809523 | 3,920 | omim | https://www.omim.org/entry/615439 | 2019-09-22T15:52:27 | {"omim": ["615439"]} |
A number sign (#) is used with this entry because autosomal dominant mental retardation-18 (MRD18) is caused by heterozygous mutation in the GATAD2B gene (614998) on chromosome 1q21.
Description
Autosomal dominant mental retardation-18 is characterized by severe intellectual disability, limited language development... | MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 | c3554448 | 3,921 | omim | https://www.omim.org/entry/615074 | 2019-09-22T15:53:15 | {"doid": ["0070048"], "omim": ["615074"], "orphanet": ["363686"], "synonyms": []} |
A number sign (#) is used with this entry because HID syndrome is caused by heterozygous mutation in the GJB2 gene (121011), which is also mutant in KID syndrome (148210), on chromosome 13q12.
Clinical Features
Schnyder and Gloor (1977) and Gulzow and Anton-Lamprecht (1977) described a 17-year-old male with ichthyo... | ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS | c3665333 | 3,922 | omim | https://www.omim.org/entry/602540 | 2019-09-22T16:13:37 | {"mesh": ["C580224"], "omim": ["602540"], "orphanet": ["477"], "synonyms": ["Alternative titles", "HID SYNDROME"]} |
Pregnancy-induced hypertension
Micrograph showing hypertrophic decidual vasculopathy, the histomorphologic correlate of gestational hypertension. H&E stain.
SpecialtyObstetrics
Gestational hypertension or pregnancy-induced hypertension (PIH) is the development of new hypertension in a pregnant woman after 20... | Gestational hypertension | c0852260 | 3,923 | wikipedia | https://en.wikipedia.org/wiki/Gestational_hypertension | 2021-01-18T18:37:37 | {"umls": ["C0852260"], "icd-10": ["O13"], "wikidata": ["Q1519482"]} |
A number sign (#) is used with this entry because of evidence that Schopf-Schulz-Passarge syndrome (SSPS) is caused by homozygous mutation in the WNT10A gene (606268) on chromosome 2q35.
Clinical Features
Schopf et al. (1971) described keratosis palmoplantaris with hypodontia, hypotrichosis, and cysts of the eyelid... | SCHOPF-SCHULZ-PASSARGE SYNDROME | c1857069 | 3,924 | omim | https://www.omim.org/entry/224750 | 2019-09-22T16:28:27 | {"mesh": ["C565607"], "omim": ["224750"], "orphanet": ["50944"], "synonyms": ["Alternative titles", "KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS", "ECCRINE TUMORS WITH ECTODERMAL DYSPLASIA"]} |
Transient neonatal pustular melanosis
Other namesTransient neonatal pustulosis[1] and lentigines neonatorum[2]
Transient neonatal pustular melanosis
SpecialtyDermatology
Transient neonatal pustular melanosis (TNPM), also known as pustular melanosis, is a transient rash common in newborns. It is vesiculopus... | Transient neonatal pustular melanosis | c0406782 | 3,925 | wikipedia | https://en.wikipedia.org/wiki/Transient_neonatal_pustular_melanosis | 2021-01-18T18:52:01 | {"umls": ["C0406782"], "icd-10": ["P83.8"], "wikidata": ["Q6009373"]} |
Esca
Esca symptoms on leaves
Causal agentsPhaeoacremonium aleophilum, Phaeomoniella chlamydospora
HostsVitis vinifera
EPPO CodeTOGNMI, PHMOCH
Esca is a grape disease of mature grapevines. It is a type of grapevine trunk disease.
The fungi Phaeoacremonium aleophilum, Phaeomoniella chlamydospora... | Esca (grape disease) | None | 3,926 | wikipedia | https://en.wikipedia.org/wiki/Esca_(grape_disease) | 2021-01-18T18:52:49 | {"wikidata": ["Q284145"]} |
On the basis of a genomic search for linkage, Verge et al. (1998) concluded that a locus contributing to type I diabetes in a large Bedouin Arab family was located on 10q25. The family contained 19 affected relatives all of whom carried 1 or 2 high-risk HLA-DR3 haplotypes that were rarely found in other family member... | DIABETES MELLITUS, INSULIN-DEPENDENT, 17 | c1864068 | 3,927 | omim | https://www.omim.org/entry/603266 | 2019-09-22T16:13:08 | {"mesh": ["C566395"], "omim": ["603266"], "synonyms": ["Alternative titles", "INSULIN-DEPENDENT DIABETES MELLITUS 17"]} |
Xanthoma disseminatum
Other namesDisseminated xanthosiderohistiocytosis[1] and Montgomery syndrome[2]
SpecialtyEndocrinology
Xanthoma disseminatum is a rare cutaneous condition that preferentially affects males in childhood, characterized by the insidious onset of small, yellow-red to brown papules and nodul... | Xanthoma disseminatum | c0043322 | 3,928 | wikipedia | https://en.wikipedia.org/wiki/Xanthoma_disseminatum | 2021-01-18T18:33:33 | {"gard": ["13186"], "mesh": ["D015616"], "umls": ["C0043322"], "icd-10": ["E78.2"], "orphanet": ["158003"], "wikidata": ["Q8043038"]} |
Type of reading disorder
Surface dyslexia is a type of dyslexia, or reading disorder.[1][2] According to Marshall & Newcombe's (1973) and McCarthy & Warrington's study (1990), patients with this kind of disorder cannot recognize a word as a whole due to the damage of the left parietal or temporal lobe. Individu... | Surface dyslexia | c0454594 | 3,929 | wikipedia | https://en.wikipedia.org/wiki/Surface_dyslexia | 2021-01-18T18:41:14 | {"wikidata": ["Q2868239"]} |
Normolipoproteinemic xanthomatosis
SpecialtyDermatology
Normolipoproteinemic xanthomatosis is a cutaneous condition characterized by a xanthoma in the presence of normal cholesterol and lipoprotein levels.[1]:535
## See also[edit]
* Cerebrotendinous xanthomatosis
* Verruciform xanthoma
* Skin lesio... | Normolipoproteinemic xanthomatosis | None | 3,930 | wikipedia | https://en.wikipedia.org/wiki/Normolipoproteinemic_xanthomatosis | 2021-01-18T19:07:00 | {"wikidata": ["Q7053146"]} |
Endocrine disease
Thyroid storm
Other namesThyrotoxic crisis
SpecialtyEndocrinology
Thyroid storm is a rare but severe and potentially life-threatening complication of hyperthyroidism (overactivity of the thyroid gland). It is characterized by a high fever (temperatures often above 40 °C/104 °F), fast a... | Thyroid storm | c0040127 | 3,931 | wikipedia | https://en.wikipedia.org/wiki/Thyroid_storm | 2021-01-18T18:39:08 | {"mesh": ["D013958"], "umls": ["C0040127"], "wikidata": ["Q4458080"]} |
Glioblastoma is a malignant (cancerous) brain tumor that develops from a specific type of brain cell called an astrocyte. These cells help support and nourish neurons (nerve cells of the brain) and form scar tissue that helps repair brain damage in response to injury. Glioblastomas are often very aggressive and g... | Glioblastoma | c0017636 | 3,932 | gard | https://rarediseases.info.nih.gov/diseases/2491/glioblastoma | 2021-01-18T18:00:19 | {"mesh": ["D005909"], "synonyms": ["Glioblastoma multiforme", "Giant cell glioblastoma (histologic variant)", "Gliosarcoma (histologic variant)"]} |
TRNT1 deficiency is a condition that affects many body systems. Its signs and symptoms can involve blood cells, the immune system, the eyes, and the nervous system. The severity of the signs and symptoms vary widely.
A common feature of TRNT1 deficiency is a blood condition called sideroblastic anemia, which is char... | TRNT1 deficiency | c4310776 | 3,933 | medlineplus | https://medlineplus.gov/genetics/condition/trnt1-deficiency/ | 2021-01-27T08:24:41 | {"gard": ["667"], "omim": ["616959", "616084"], "synonyms": []} |
An X-linked syndromic intellectual disability characterized by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]:... | X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome | c1839730 | 3,934 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2958 | 2021-01-23T16:59:34 | {"gard": ["4482"], "mesh": ["C535274"], "omim": ["309610"], "umls": ["C1839730"], "synonyms": ["Prieto-Badia-Mulas syndrome"]} |
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Find sources: "Language-based learning disability" – news · newspapers · books · scholar · JSTOR (November 2012) (Learn how and when t... | Language-based learning disability | None | 3,935 | wikipedia | https://en.wikipedia.org/wiki/Language-based_learning_disability | 2021-01-18T19:06:46 | {"wikidata": ["Q17148671"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to juvenile absence epilepsy-1 is conferred by variation in the EFHC1 gene (608815) on chromosome 6p12.
Susceptibility to juvenile myoclonic epilepsy-1 (EJM1; 254770) is also conferred by variation in the EFHC1 gene.
See also EJA2... | EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1 | c2750892 | 3,936 | omim | https://www.omim.org/entry/607631 | 2019-09-22T16:08:56 | {"doid": ["0111324"], "mesh": ["C535495"], "omim": ["607631"], "orphanet": ["1941"], "synonyms": ["JAE", "Alternative titles", "JAE1"]} |
Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a ra... | Congenital urachal anomaly | c1739100 | 3,937 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=435743 | 2021-01-23T16:59:01 | {"umls": ["C1739100"]} |
Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet.
## Epidemiology
The exact prevalence is unknown. The disease is reported in a limited number of Jewish and Gypsy families.
## Clinical description
The onset of the symptoms... | Primary dystonia, DYT2 type | c1857093 | 3,938 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99657 | 2021-01-23T17:37:19 | {"gard": ["2028"], "mesh": ["C538006"], "omim": ["224500"], "icd-10": ["G24.1"], "synonyms": ["DYT2"]} |
Intrahepatic cholestasis of pregnancy (ICP) is a disorder of the liver that occurs in women during pregnancy. Cholestasis is a condition that impairs the release of bile (a digestive juice) from liver cells. The bile then builds up in the liver, impairing liver function. Symptoms typically become apparent in the thir... | Intrahepatic cholestasis of pregnancy | c0268318 | 3,939 | gard | https://rarediseases.info.nih.gov/diseases/9804/intrahepatic-cholestasis-of-pregnancy | 2021-01-18T17:59:45 | {"mesh": ["C535932"], "omim": ["147480", "614972"], "umls": ["C0268318"], "orphanet": ["69665"], "synonyms": ["Familial intrahepatic cholestasis of pregnancy", "ICP", "Recurrent intrahepatic cholestasis of pregnancy", "RICP", "Pregnancy related cholestasis", "Familial recurrent intrahepatic cholestasis of pregnancy", "... |
Adiposis dolorosa
Other namesAnders disease
Adiposis dolorosa of the diffuse truncal form (Dercum), The anterior view shows the peculiar apron of fat and the small size of the hands. The posterior view shows the arrangement of fat in folds over the hips.
SpecialtyEndocrinology
Adiposis dolorosa, is an outd... | Adiposis dolorosa | c0001529 | 3,940 | wikipedia | https://en.wikipedia.org/wiki/Adiposis_dolorosa | 2021-01-18T18:43:40 | {"gard": ["5750"], "mesh": ["D000274"], "umls": ["C0001529"], "icd-9": ["272.8"], "orphanet": ["36397"], "wikidata": ["Q1615557"]} |
Feigenbaum et al. (1990, 1994) described 2 brothers with this combination. The proband presented at age 22 years with deteriorating cognitive function, sensorineural deafness, and proteinuria. At the age of 27 years, diabetes mellitus and renal artery stenosis were diagnosed. Renal biopsy showed glomerular sclerosis ... | ATHEROSCLEROSIS, PREMATURE, WITH DEAFNESS, NEPHROPATHY, DIABETES MELLITUS, PHOTOMYOCLONUS, AND DEGENERATIVE NEUROLOGIC DISEASE | c2931125 | 3,941 | omim | https://www.omim.org/entry/209010 | 2019-09-22T16:30:37 | {"mesh": ["C536178"], "omim": ["209010"], "orphanet": ["1192"]} |
For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970.
Clinical Features
Kamenarova et al. (2013) studied a 3-generation Romani family segregating autosomal dominant cone-rod dystrophy with a slightly variable but early age of onset, at around 10 years of a... | CONE-ROD DYSTROPHY 17 | c3489532 | 3,942 | omim | https://www.omim.org/entry/615163 | 2019-09-22T15:53:00 | {"doid": ["0111023"], "mesh": ["D000071700"], "omim": ["120970", "615163"], "orphanet": ["1872"], "synonyms": []} |
This article includes a list of general references, but it remains largely unverified because it lacks sufficient corresponding inline citations. Please help to improve this article by introducing more precise citations. (June 2019) (Learn how and when to remove this template message)
Christianson syndrome
Spe... | Christianson syndrome | c2678194 | 3,943 | wikipedia | https://en.wikipedia.org/wiki/Christianson_syndrome | 2021-01-18T19:03:01 | {"gard": ["9155", "10572"], "mesh": ["C537450", "C567484"], "umls": ["C2678194"], "orphanet": ["85278"], "wikidata": ["Q28065629"]} |
A number sign (#) is used with this entry because of evidence that Noonan syndrome-8 (NS8) is caused by heterozygous mutation in the RIT1 gene (609591) on chromosome 1q22.
Description
Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high inci... | NOONAN SYNDROME 8 | c0028326 | 3,944 | omim | https://www.omim.org/entry/615355 | 2019-09-22T15:52:28 | {"doid": ["0060586"], "mesh": ["D009634"], "omim": ["615355"], "orphanet": ["648"], "genereviews": ["NBK1124"]} |
Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inatte... | Attention-deficit/hyperactivity disorder | c1263846 | 3,945 | medlineplus | https://medlineplus.gov/genetics/condition/attention-deficit-hyperactivity-disorder/ | 2021-01-27T08:24:40 | {"mesh": ["D001289"], "omim": ["143465"], "synonyms": []} |
Congenital deformity of the chest
Pectus excavatum
Other namesFunnel chest, dented chest, sunken chest, concave chest, chest hole
An example of an extremely severe case of pectus excavatum.
SpecialtyOrthopedics
Pectus excavatum is a structural deformity of the anterior thoracic wall in which the sternum a... | Pectus excavatum | c0016842 | 3,946 | wikipedia | https://en.wikipedia.org/wiki/Pectus_excavatum | 2021-01-18T18:36:51 | {"mesh": ["D005660"], "umls": ["C0016842"], "icd-9": ["754.81"], "icd-10": ["Q67.6"], "wikidata": ["Q431168"]} |
Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proxima... | Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome | c3810325 | 3,947 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=221043 | 2021-01-23T17:57:49 | {"omim": ["615704"], "icd-10": ["Q82.8"], "synonyms": ["POIKTMP syndrome"]} |
## Clinical Features
In a male and female sib pair of Sikh origin and a male offspring of first-cousin Pakistani Muslims, Al-Gazali et al. (1988) described a combination of Hirschsprung disease (megacolon), hypoplastic nails, and minor dysmorphic facial features. In 1 male infant, bilateral hydronephrosis was detec... | HIRSCHSPRUNG DISEASE WITH HYPOPLASTIC NAILS AND DYSMORPHIC FACIAL FEATURES | c1856110 | 3,948 | omim | https://www.omim.org/entry/235760 | 2019-09-22T16:27:07 | {"mesh": ["C535615"], "omim": ["235760"], "orphanet": ["2153"]} |
Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by platelets that have a gray appearance, severe thrombocytopenia, myelofibrosis, and splenomegaly. About 60 cases from various populations around the world have been described in the literature to date. GPS results from the absence or r... | Gray platelet syndrome | c0272302 | 3,949 | gard | https://rarediseases.info.nih.gov/diseases/2562/gray-platelet-syndrome | 2021-01-18T18:00:12 | {"mesh": ["D055652"], "omim": ["139090"], "orphanet": ["721"], "synonyms": ["GPS", "Platelet alpha-granule deficiency", "Marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins"]} |
A number sign (#) is used with this entry because susceptibility to bacteremia-2 is caused by variation in the CISH gene (602441).
Clinical Features
Between 1998 and 2002, Berkley et al. (2005) cultured blood on admission from 19,339 inpatients under the age of 13 years and calculated the incidence of bacteremia on... | BACTEREMIA, SUSCEPTIBILITY TO, 2 | c3280647 | 3,950 | omim | https://www.omim.org/entry/614383 | 2019-09-22T15:55:26 | {"omim": ["614383"]} |
A number sign (#) is used with this entry because mutations in several genes may underlie susceptibility to uveal melanoma. Susceptibility loci have been mapped to chromosome 3q (UVM1; 606660) and chromosome 3p (UVM2; 606661).
See also 614327 for a tumor predisposition syndrome that may include the development of uv... | MELANOMA, UVEAL | c0346388 | 3,951 | omim | https://www.omim.org/entry/155720 | 2019-09-22T16:38:26 | {"doid": ["6039"], "omim": ["155720"], "orphanet": ["39044"]} |
Tumour of the glial cells of the brain or spine
Glioma
Glioma in the left parietal lobe (brain CT scan), WHO grade 2.
SpecialtyOncology
A glioma is a type of tumor that starts in the glial cells of the brain or the spine.[1] Gliomas comprise about 30 percent of all brain tumors and central nervous system tu... | Glioma | c0017638 | 3,952 | wikipedia | https://en.wikipedia.org/wiki/Glioma | 2021-01-18T19:01:32 | {"gard": ["6513"], "mesh": ["D005910"], "umls": ["C0017638", "C0555198"], "orphanet": ["182067"], "wikidata": ["Q1365309"]} |
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. (May 2013)
Rhabdomyoma is a benign mesenchymal tumor of skeletal muscle, separated into two major categories based on site: Cardiac and extracardiac. They... | Fetal rhabdomyoma | c0334482 | 3,953 | wikipedia | https://en.wikipedia.org/wiki/Fetal_rhabdomyoma | 2021-01-18T19:10:15 | {"umls": ["C0334482"], "wikidata": ["Q5445911"]} |
For a discussion of genetic heterogeneity of bone mineral density (BMD), see BMND1 (601884).
Mapping
Styrkarsdottir et al. (2008) performed a quantitative trait analysis of data from 5,861 Icelandic subjects, testing for an association between 301,019 single-nucleotide polymorphisms (SNPs) and bone mineral density ... | BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 11 | c2677497 | 3,954 | omim | https://www.omim.org/entry/612114 | 2019-09-22T16:02:18 | {"omim": ["612114"]} |
A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy, characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neu... | Autosomal dominant Charcot-Marie-Tooth disease type 2M | c1847902 | 3,955 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=228179 | 2021-01-23T17:26:34 | {"mesh": ["C564703"], "omim": ["606482"], "umls": ["C1847902"], "icd-10": ["G60.0"], "synonyms": ["CMT2M"]} |
UV-sensitive syndrome is a condition that is characterized by sensitivity to the ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can have freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas of ... | UV-sensitive syndrome | c3551173 | 3,956 | medlineplus | https://medlineplus.gov/genetics/condition/uv-sensitive-syndrome/ | 2021-01-27T08:24:45 | {"gard": ["10947"], "omim": ["600630", "614621", "614640"], "synonyms": []} |
Hyperlipoproteinemia type 1 is an inherited condition that disrupts the normal breakdown of fats in the body, causing a large amount of fat to build up in the blood. This condition is characterized by inflammation of the pancreas (pancreatitis), abdominal pain, enlargement of the liver and spleen (hepatosplenomegaly)... | Familial chylomicronemia syndrome | c0023817 | 3,957 | gard | https://rarediseases.info.nih.gov/diseases/6414/familial-chylomicronemia-syndrome | 2021-01-18T18:00:35 | {"mesh": ["D008072"], "omim": ["238600"], "orphanet": ["444490"], "synonyms": ["Hyperlipoproteinemia type 1"]} |
For a general phenotypic description and a discussion of genetic heterogeneity of chondrodysplasia punctata, see CDPX2 (302960).
Clinical Features
Rittler et al. (1990) described 7 sporadic cases of what appeared to be a new form of chondrodysplasia punctata. Two of the cases had previously been reported by Burck e... | CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE | c0432224 | 3,958 | omim | https://www.omim.org/entry/118651 | 2019-09-22T16:43:21 | {"doid": ["0060293"], "mesh": ["C562961"], "omim": ["118651"], "orphanet": ["79346"], "synonyms": ["Alternative titles", "CHONDRODYSPLASIA PUNCTATA, MT TYPE"]} |
Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or ... | Richards-Rundle syndrome | c0796136 | 3,959 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1399 | 2021-01-23T18:29:34 | {"gard": ["8423"], "mesh": ["C535674"], "omim": ["245100"], "umls": ["C0796136"], "icd-10": ["G60.2"], "synonyms": ["Ketoaciduria-intellectual disability-ataxia-deafness syndrome", "Ketoaciduria-intellectual disability-ataxia-hearing loss syndrome"]} |
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: "Focal nodular hyperplasia" – news · newspapers · books · scholar · JSTOR (August 2007) (Learn how and when to remove th... | Focal nodular hyperplasia | c0333980 | 3,960 | wikipedia | https://en.wikipedia.org/wiki/Focal_nodular_hyperplasia | 2021-01-18T18:59:38 | {"mesh": ["D020518"], "wikidata": ["Q1435219"]} |
Optic neuropathy
SpecialtyOphthalmology
Optic neuropathy is damage to the optic nerve from any cause. Damage and death of these nerve cells, or neurons, leads to characteristic features of optic neuropathy. The main symptom is loss of vision, with colors appearing subtly washed out in the affected eye. On ... | Optic neuropathy | c0029132 | 3,961 | wikipedia | https://en.wikipedia.org/wiki/Optic_neuropathy | 2021-01-18T19:00:18 | {"mesh": ["D009901"], "umls": ["C0029132"], "icd-10": ["H46"], "wikidata": ["Q2879095"]} |
A number sign (#) is used with this entry because X-linked cone-rod dystrophy-1 (CORDX1) and cone dystrophy-1 (COD1) are caused by mutation in an alternative terminal exon 15 (ORF15) of the RPGR gene (312610), which maps to chromosome Xp11.
Description
X-linked cone-rod dystrophy is a rare, progressive visual d... | CONE-ROD DYSTROPHY, X-LINKED, 1 | c1844776 | 3,962 | omim | https://www.omim.org/entry/304020 | 2019-09-22T16:18:29 | {"doid": ["0111008"], "mesh": ["C564438"], "omim": ["304020", "120970"], "orphanet": ["1872"], "synonyms": []} |
Main article: Tick-borne meningoencephalitis
Powassan encephalitis
SpecialtyInfectious disease
Powassan encephalitis, caused by the Powassan virus (POWV), a flavivirus also known as the deer tick virus, is a form of arbovirus infection that results from tick bites. It can occur as a co-infection with Lyme dis... | Powassan encephalitis | c0032858 | 3,963 | wikipedia | https://en.wikipedia.org/wiki/Powassan_encephalitis | 2021-01-18T19:05:46 | {"mesh": ["D004675"], "icd-10": ["A84.8"], "wikidata": ["Q7235947"]} |
Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypo... | Spastic paraplegia-severe developmental delay-epilepsy syndrome | c4225215 | 3,964 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=464282 | 2021-01-23T17:03:01 | {"omim": ["616756"], "synonyms": ["SPPRS syndrome", "Spastic paraplegia-psychomotor retardation-seizures syndrome"]} |
Cohan et al. (1979) described adult Ethiopian brother and sister with this combination.
Eyes \- Retinal degeneration Neuro \- Seizures Inheritance \- Autosomal recessive ▲ Close
*[v]: View this template
*[t]: Discuss this template
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]:... | RETINAL DEGENERATION AND EPILEPSY | c1849416 | 3,965 | omim | https://www.omim.org/entry/267740 | 2019-09-22T16:22:44 | {"mesh": ["C564847"], "omim": ["267740"]} |
Prion protein (PrP) systemic amyloidosis, previously known as chronic diarrhea with hereditary sensory and autonomic neuropathy is an extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life... | PrP systemic amyloidosis | c4518776 | 3,966 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=397606 | 2021-01-23T17:51:40 | {"icd-10": ["G60.8"], "synonyms": ["Chronic diarrhea with HSAN", "Chronic diarrhea with hereditary sensory and autonomic neuropathy", "Prion protein systemic amyloidosis"]} |
## Description
Idiopathic scoliosis is a structurally fixed lateral curvature of the spine with a rotatory component. There is at least a 10 degree curvature as demonstrated by upright spine roentgenograms by the Cobb method (Weinstein, 1994).
For a discussion of genetic heterogeneity of isolated scoliosis, see IS... | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 5 | c2677107 | 3,967 | omim | https://www.omim.org/entry/612239 | 2019-09-22T16:02:04 | {"omim": ["612239"]} |
A number sign (#) is used with this entry because mitochondrial DNA (mtDNA) depletion syndrome-2 (MTDPS2) is caused by homozygous or compound heterozygous mutation in the mitochondrial thymidine kinase gene (TK2; 188250) on chromosome 16q21.
Description
Mitochondrial DNA depletion syndrome-2 is an autosomal recessi... | MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) | c3501891 | 3,968 | omim | https://www.omim.org/entry/609560 | 2019-09-22T16:05:59 | {"doid": ["0080120"], "mesh": ["C563698"], "omim": ["609560"], "orphanet": ["254875"], "synonyms": ["Alternative titles", "MITOCHONDRIAL DNA DEPLETION MYOPATHY, TK2-RELATED"], "genereviews": ["NBK114628"]} |
The topic of this article may not meet Wikipedia's notability guideline for biographies. Please help to demonstrate the notability of the topic by citing reliable secondary sources that are independent of the topic and provide significant coverage of it beyond a mere trivial mention. If notability cannot be shown, th... | Joseph and Luka Banda | None | 3,969 | wikipedia | https://en.wikipedia.org/wiki/Joseph_and_Luka_Banda | 2021-01-18T18:37:27 | {"wikidata": ["Q6288169"]} |
A rare ciliopathy characterized by oral anomalies (multiple oral frenula, missing incisors), facial dysmorphism (such as square face with small forehead, upslanting palpebral fissures, and cleft lip, among other features), digital anomalies (brachydactyly, brachymesophalangy, polydactyly), and short stature. Addi... | Oral-facial-digital syndrome with short stature and brachymesophalangy | c4693651 | 3,970 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=508501 | 2021-01-23T18:17:27 | {"synonyms": ["OFD18", "Oral-facial-digital syndrome type 18", "Orofaciodigital syndrome type 18"]} |
Cartilage-hair hypoplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities; fine, sparse hair (hypotrichosis); and abnormal immune system function (immune deficiency) that can lead to recurrent infections.
People with cartilage-hair hypoplasia have unusually sh... | Cartilage-hair hypoplasia | c0220748 | 3,971 | medlineplus | https://medlineplus.gov/genetics/condition/cartilage-hair-hypoplasia/ | 2021-01-27T08:25:09 | {"gard": ["6996"], "mesh": ["C535916"], "omim": ["250250"], "synonyms": []} |
A rare, genetic primary bone dysplasia of the spondylo-epi-metaphyseal dysplasia (SEMD) group characterized by progressive short-trunked dwarfism, protruding sternum, microcephaly, intellectual disability and pathognomonic radiological findings (generalized platyspondyly with double-humped end plates, irregularly oss... | Dyggve-Melchior-Clausen disease | c0265286 | 3,972 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=239 | 2021-01-23T17:45:31 | {"gard": ["6295"], "mesh": ["C535726"], "omim": ["223800", "304950"], "umls": ["C0265286"], "icd-10": ["Q77.7"]} |
Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region.
## Epidemiology
Prevalence is unknown. Approximately 40 families or sporadic case... | Pretibial dystrophic epidermolysis bullosa | c0432321 | 3,973 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79410 | 2021-01-23T18:58:13 | {"gard": ["2155"], "mesh": ["C535494"], "omim": ["131850"], "umls": ["C0432321"], "icd-10": ["Q81.2"], "synonyms": ["DEB-Pt", "Pretibial DEB"]} |
Chronic granulomatous disease is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body from foreign invaders such as bacteria and fungi. Individuals with chronic granulomatous disea... | Chronic granulomatous disease | c1856251 | 3,974 | medlineplus | https://medlineplus.gov/genetics/condition/chronic-granulomatous-disease/ | 2021-01-27T08:25:06 | {"gard": ["6100"], "mesh": ["C565532"], "omim": ["233700", "233710", "613960", "233690", "306400"], "synonyms": []} |
A number sign (#) is used with this entry because hyperlipoproteinemia type ID is caused by homozygous or compound heterozygous mutation in the GPIHBP1 gene (612757) on chromosome 8q24.
Clinical Features
Wang and Hegele (2007) reported 2 sibs with chylomicronemia who were found to have a homozygous mutation in the ... | HYPERLIPOPROTEINEMIA, TYPE ID | c4014767 | 3,975 | omim | https://www.omim.org/entry/615947 | 2019-09-22T15:50:30 | {"omim": ["615947"], "orphanet": ["444490", "535458"], "synonyms": ["Familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency"]} |
A number sign (#) is used with this entry because of evidence that spermatogenic failure-10 (SPGF10) is caused by heterozygous mutation in the SEPT12 gene (611562) on chromosome 16p13.
Description
Spermatogenic failure-10 is associated with a defective annulus, a ring structure that demarcates the midpiece and the ... | SPERMATOGENIC FAILURE 10 | c3553793 | 3,976 | omim | https://www.omim.org/entry/614822 | 2019-09-22T15:54:16 | {"doid": ["0070178"], "omim": ["614822"], "orphanet": ["276234"], "synonyms": ["SPERMATOGENIC FAILURE WITH DEFECTIVE SPERM ANNULUS", "Alternative titles", "Non-syndromic male infertility due asthenozoospermia"]} |
## Description
The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progr... | CEROID LIPOFUSCINOSIS, NEURONAL, 9 | c1836841 | 3,977 | omim | https://www.omim.org/entry/609055 | 2019-09-22T16:06:48 | {"doid": ["0110733"], "mesh": ["C537953"], "omim": ["609055"], "orphanet": ["228357", "79264"]} |
Thyroid lymphoma
SpecialtyENT surgery, endocrinology, oncology
Thyroid lymphoma is a rare cancer constituting 1% to 2% of all thyroid cancers and less than 2% of lymphomas. Thyroid lymphomas are classified as non–Hodgkin's B-cell lymphomas in a majority of cases, although Hodgkin's lymphoma of the thyroid has ... | Thyroid lymphoma | c1336753 | 3,978 | wikipedia | https://en.wikipedia.org/wiki/Thyroid_lymphoma | 2021-01-18T19:08:02 | {"umls": ["C1336753"], "icd-9": ["193"], "icd-10": ["C96", "C73", "C81"], "orphanet": ["97285"], "wikidata": ["Q3832897"]} |
Carney et al. (1980) suggested that pheochromocytoma and/or islet cell tumor is an autosomal dominant endocrine adenomatosis distinct from MEA I, II and III. They reported 3 families. Among 11 affected patients (aged 5 to 53 years), 10 had pheochromocytoma (bilateral in 6), 4 had islet cell tumor (multicentric in... | PHEOCHROMOCYTOMA--ISLET CELL TUMOR SYNDROME | c1868392 | 3,979 | omim | https://www.omim.org/entry/171420 | 2019-09-22T16:36:18 | {"mesh": ["C566807"], "omim": ["171420"]} |
On the island of Rodrigues in the Indian Ocean, Wallis and Beighton (1992) identified a brother and sister with moderately severe mental retardation, blindness due to severe ocular malformations (microphthalmia, microcornea, and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge with distal... | RODRIGUES BLINDNESS | c1849332 | 3,980 | omim | https://www.omim.org/entry/268320 | 2019-09-22T16:22:32 | {"mesh": ["C535865"], "omim": ["268320"], "orphanet": ["1806"], "synonyms": ["Alternative titles", "MICROPHTHALMIA, MICROCORNEA, AND SCLEROCORNEA WITH SHORT STATURE AND HAIR AND DENTAL ABNORMALITIES"]} |
Proventricular dilatation disease (PDD) is an incurable probably viral disease of psittacine birds. It was first recognized and described in 1978 by Dr. Hannis L. Stoddard. Since the first reported cases were involving species of macaw, the condition was termed macaw wasting syndrome.[1]
## Contents
* 1 Clinical ... | Proventricular dilatation disease | None | 3,981 | wikipedia | https://en.wikipedia.org/wiki/Proventricular_dilatation_disease | 2021-01-18T18:49:06 | {"wikidata": ["Q3027962"]} |
## Clinical Features
Pinheiro et al. (1996) described a combination of precocious eruption and shedding of deciduous teeth, precocious eruption of secondary teeth with short rhomboid roots, and short, thin, slow growing nails in a 7-year-old boy born of consanguineous parents of Portuguese ancestry. Four other memb... | ODONTOMICRONYCHIAL DYSPLASIA | c1832473 | 3,982 | omim | https://www.omim.org/entry/601319 | 2019-09-22T16:15:06 | {"mesh": ["C537741"], "omim": ["601319"], "orphanet": ["1811"], "synonyms": ["Alternative titles", "ECTODERMAL DYSPLASIA, NAIL/TOOTH TYPE"]} |
Cancer
Kangri cancer
SpecialtyDermatology/oncology
Kangri cancer is a type of squamous-cell carcinoma of the skin. It is found only in Kashmir in the northwest of the Indian subcontinent. It occurs on the lower abdomen and inner thighs and is due to the use of a kanger, a ceramic pot covered with wicker-work,... | Kangri cancer | None | 3,983 | wikipedia | https://en.wikipedia.org/wiki/Kangri_cancer | 2021-01-18T18:39:06 | {"wikidata": ["Q6362874"]} |
Hereditary antithrombin deficiency is a disorder of blood clotting. People with this condition are at higher than average risk for developing abnormal blood clots, particularly a type of clot that occurs in the deep veins of the legs. This type of clot is called a deep vein thrombosis (DVT). Affected individuals ... | Hereditary antithrombin deficiency | c0272375 | 3,984 | medlineplus | https://medlineplus.gov/genetics/condition/hereditary-antithrombin-deficiency/ | 2021-01-27T08:25:10 | {"gard": ["6148"], "mesh": ["D020152"], "omim": ["107300"], "synonyms": []} |
## Clinical Features
In 2 sibships of a highly consanguineous Mexican kindred, Barros-Nunes and Rivas (1993) identified 3 males with hydrocephalus and 3 males with microcephaly. The 20-month-old proband was diagnosed by computed tomography with hydrocephalus due to aqueductal stenosis. He had acrocephaly, cranial h... | HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS | c0265216 | 3,985 | omim | https://www.omim.org/entry/236635 | 2019-09-22T16:26:58 | {"doid": ["10908"], "mesh": ["C536078"], "omim": ["236635"], "synonyms": ["Alternative titles", "AQUEDUCTAL STENOSIS"]} |
Cornelia de Lange syndrome
Other namesBushy syndrome
One-year-old boy with Cornelia de Lange syndrome
SpecialtyMedical genetics
Cornelia de Lange syndrome (CdLS) is a genetic disorder. People with this syndrome experience a range of physical, cognitive, and medical challenges ranging from mild to severe. T... | Cornelia de Lange syndrome | c0270972 | 3,986 | wikipedia | https://en.wikipedia.org/wiki/Cornelia_de_Lange_syndrome | 2021-01-18T18:32:25 | {"gard": ["10109"], "mesh": ["D003635"], "umls": ["C0270972"], "icd-9": ["759.89"], "orphanet": ["199"], "wikidata": ["Q1133289"]} |
A number sign (#) is used with this entry because Culler-Jones syndrome (CJS) is caused by heterozygous mutation in the GLI2 gene (165230) on chromosome 2q14.
Mutation in the GLI2 gene also causes holoprosencephaly-9 (HPE9; 610829), or HPE-like features, which may be considered at the severe end of the spectrum ... | CULLER-JONES SYNDROME | c4014479 | 3,987 | omim | https://www.omim.org/entry/615849 | 2019-09-22T15:50:50 | {"doid": ["0080328"], "omim": ["615849"], "orphanet": ["420584"], "synonyms": ["Alternative titles", "Culler-Jones syndrome", "PALLISTER-HALL SYNDROME 2, FORMERLY"]} |
Positional alcohol nystagmus (PAN) is nystagmus (visible jerkiness in eye movement) produced when the head is placed in a sideways position. PAN occurs when the specific gravity of the membrane space of the semicircular canals in the ear differs from the specific gravity of the fluid in the canals because of the pres... | Positional alcohol nystagmus | None | 3,988 | wikipedia | https://en.wikipedia.org/wiki/Positional_alcohol_nystagmus | 2021-01-18T18:57:40 | {"wikidata": ["Q7233198"]} |
Neonatal dermatomyositis is a very rare, secondary, neonatal autoimmune disease characterized by generalized weakness, severe hypotonia, absent or reduced deep tendon reflexes, and highly elevated serum creatine kinase levels presenting in the neonatal period. Perifascicular atrophy in the presence of a diffuse p... | Neonatal dermatomyositis | None | 3,989 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=398117 | 2021-01-23T18:18:47 | {"icd-10": ["M33.1"], "synonyms": ["Neonatal DM"]} |
This article relies too much on references to primary sources. Please improve this by adding secondary or tertiary sources. (May 2019) (Learn how and when to remove this template message)
Periapical granuloma,[1] also sometimes referred to as a radicular granuloma or apical granuloma, is an inflammation at the t... | Periapical granuloma | c0031029 | 3,990 | wikipedia | https://en.wikipedia.org/wiki/Periapical_granuloma | 2021-01-18T19:02:13 | {"mesh": ["D010484"], "umls": ["C0031029"], "icd-9": ["522.6"], "icd-10": ["K04.5"], "wikidata": ["Q3775782"]} |
Genital-related neurosis, in which an individual has an overpowering belief that his or her genitalia are retracting and will disappear, despite the lack of any true longstanding changes to the genitals
Not to be confused with Kuru (disease).
Koro
Other namesGenital retraction syndrome, shrinking penis
Specialt... | Koro (medicine) | c0085429 | 3,991 | wikipedia | https://en.wikipedia.org/wiki/Koro_(medicine) | 2021-01-18T18:34:43 | {"gard": ["11922"], "mesh": ["D016911"], "wikidata": ["Q1080699"]} |
For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease (IBD), including Crohn disease (CD) and ulcerative colitis (UC), see IBD1 (266600).
Mapping
In a genomewide linkage scan involving 282 IBD families of European descent, Hampe et al. (1999) identified a locus in the... | INFLAMMATORY BOWEL DISEASE 20 | c2676781 | 3,992 | omim | https://www.omim.org/entry/612288 | 2019-09-22T16:01:59 | {"mesh": ["C567361"], "omim": ["612288"]} |
Malignant infantile osteopetrosis
Other namesInfantile autosomal recessive osteopetrosis, Infantile osteopetrosis
Malignant infantile osteopetrosis, is a rare osteosclerosing type of skeletal dysplasia that typically presents in infancy and is characterized by a unique radiographic appearance of generalized hy... | Malignant infantile osteopetrosis | c1318518 | 3,993 | wikipedia | https://en.wikipedia.org/wiki/Malignant_infantile_osteopetrosis | 2021-01-18T18:53:53 | {"umls": ["C1318518"], "orphanet": ["667"], "wikidata": ["Q24960517"]} |
Disease characterized by the rapid swelling
Angioedema
Other namesAngiooedema, Quincke's edema, angioneurotic edema
Allergic angioedema: this child is unable to open his eyes due to the swelling.
SpecialtyAllergy and immunology, emergency medicine
SymptomsArea of swelling[1]
Usual onsetMinutes to hours... | Angioedema | c0002994 | 3,994 | wikipedia | https://en.wikipedia.org/wiki/Angioedema | 2021-01-18T18:34:00 | {"mesh": ["D000799"], "umls": ["C0002994"], "wikidata": ["Q1129007"]} |
For the plant genus, see Entomophobia (plant).
Entomophobia is a specific phobia characterized by an excessive or unrealistic fear of one or more classes of insect, and classified as a phobia by the DSM-5.[1] More specific cases included apiphobia (fear of bees), myrmecophobia (fear of ants), and lepidopterophob... | Entomophobia | None | 3,995 | wikipedia | https://en.wikipedia.org/wiki/Entomophobia | 2021-01-18T18:34:24 | {"wikidata": ["Q2157130"]} |
A number sign (#) is used with this entry because primary sea-blue histiocytosis can be caused by mutation in the APOE gene (107741).
Clinical Features
This disorder is characterized by splenomegaly, mild thrombocytopenia, and, in the bone marrow, numerous histiocytes containing cytoplasmic granules which stain... | SEA-BLUE HISTIOCYTE DISEASE | c0036489 | 3,996 | omim | https://www.omim.org/entry/269600 | 2019-09-22T16:22:29 | {"doid": ["4423"], "mesh": ["D012618"], "omim": ["269600"], "orphanet": ["158029"], "synonyms": ["Alternative titles", "SEA-BLUE HISTIOCYTOSIS", "HISTIOCYTOSIS, SEA-BLUE"], "genereviews": ["NBK208534"]} |
A number sign (#) is used with this entry because riboflavin deficiency is caused by heterozygous mutation in the SLC52A1 gene (607883) on chromosome 17p13.
Clinical Features
Chiong et al. (2007) reported a newborn who presented soon after birth with poor suck, hypoglycemia, and metabolic acidosis. She had dicarbox... | RIBOFLAVIN DEFICIENCY | c0035528 | 3,997 | omim | https://www.omim.org/entry/615026 | 2019-09-22T15:53:24 | {"mesh": ["D012257"], "omim": ["615026"], "icd-9": ["266.0"], "icd-10": ["E53.0"], "orphanet": ["411712"], "synonyms": []} |
Primary or exclusive sexual attraction to prepubescent children
This article is about the sexual preference toward prepubescent children. It is not to be confused with hebephilia or ephebophilia.
Pedophilia (alternatively spelt paedophilia) is a psychiatric disorder in which an adult or older adolescent experiences... | Pedophilia | c0030764 | 3,998 | wikipedia | https://en.wikipedia.org/wiki/Pedophilia | 2021-01-18T19:03:56 | {"mesh": ["D010378"], "umls": ["C0030764"], "wikidata": ["Q8388"]} |
Disorder where there is enlargement of both legs due to deposits of fat under the skin
Lipedema
Other namesLipoedema, lipödem, lipalgia, adiposalgia, adipoalgesia, adiposis dolorosa, lipomatosis dolorosa of the legs, lipohypertrophy dolorosa, painful column leg, painful lipedema syndrome
A very advanced case... | Lipedema | c0398370 | 3,999 | wikipedia | https://en.wikipedia.org/wiki/Lipedema | 2021-01-18T18:49:05 | {"gard": ["10542"], "mesh": ["D065134"], "umls": ["C0398370"], "orphanet": ["77243"], "wikidata": ["Q1827605"]} |
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