text stringlengths 297 230k | title stringlengths 4 145 | cui stringlengths 4 10 | idx int64 0 30.7k | source stringclasses 6
values | source_url stringlengths 33 155 | retrieved_date timestamp[s] | classification_map stringlengths 2 1.45k |
|---|---|---|---|---|---|---|---|
Benzodiazepine overdose
Other namesBenzodiazepine poisoning
US yearly overdose deaths involving benzodiazepines.[1]
SpecialtyToxicology, emergency medicine
Benzodiazepines
The core structure of benzodiazepines. "R" labels denote common locations of side chains, which give different benzodiazepines their ... | Benzodiazepine overdose | c0572933 | 800 | wikipedia | https://en.wikipedia.org/wiki/Benzodiazepine_overdose | 2021-01-18T18:47:08 | {"icd-9": ["969.4"], "icd-10": ["T42.4", "F13"], "wikidata": ["Q4890788"]} |
Acute schizophrenia-like psychotic disorder in which hallucinations and dream-like state are the main clinical features
Oneirophrenia (from the Greek words "ὄνειρος" (oneiros, "dream") and "φρήν" (phrēn, "mind")) is a hallucinatory, dream-like state caused by several conditions such as prolonged sleep deprivatio... | Oneirophrenia | c0553814 | 801 | wikipedia | https://en.wikipedia.org/wiki/Oneirophrenia | 2021-01-18T18:34:28 | {"umls": ["C0553814"], "icd-9": ["295.4"], "icd-10": ["F23.2"], "wikidata": ["Q1419434"]} |
A number sign (#) is used with this entry because of evidence that pseudo-TORCH syndrome-2 (PTORCH2) is caused by homozygous or compound heterozygous mutation in the USP18 gene (607057) on chromosome 22q11.
Description
Pseudo-TORCH syndrome-2 is an autosomal recessive multisystem disorder characterized by antenatal... | PSEUDO-TORCH SYNDROME 2 | c4479376 | 802 | omim | https://www.omim.org/entry/617397 | 2019-09-22T15:45:53 | {"omim": ["617397"], "orphanet": ["481665"], "synonyms": []} |
A rare disorder of the anterior segment of the eye characterized by chronic recurrent epithelial keratitis manifesting with groupings of small, slightly elevated, ovoid, grayish-white intraepithelial opacities, usually located in the central cornea. Patients present with photophobia, tearing, foreign body sensation, ... | Thygeson superficial punctate keratitis | c4551636 | 803 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=519406 | 2021-01-23T17:34:42 | {"synonyms": ["Thygeson superficial punctate keratopathy"]} |
Charcot-Marie-Tooth disease encompasses a group of disorders called hereditary sensory and motor neuropathies that damage the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Damage to the peripheral ner... | Charcot-Marie-Tooth disease | c3495591 | 804 | medlineplus | https://medlineplus.gov/genetics/condition/charcot-marie-tooth-disease/ | 2021-01-27T08:25:00 | {"gard": ["6034"], "mesh": ["C566136"], "omim": ["118300", "609260", "118210", "600882", "605588", "605589", "601472", "607684", "606595", "607677", "607736", "607831", "608673", "613287", "614228", "614436", "607706", "118220", "118200", "601098", "607678", "607734", "606482", "608323", "607791", "614455", "118230", "... |
This article is about aspects of spherocytosis specific to the hereditary form of the disorder. For details that apply generally to this variant as well as others, see Spherocytosis.
Hereditary spherocytosis
Other namesMinkowski–Chauffard syndrome
Peripheral blood smear from patient with hereditary spherocytosis... | Hereditary spherocytosis | c0037889 | 805 | wikipedia | https://en.wikipedia.org/wiki/Hereditary_spherocytosis | 2021-01-18T18:45:18 | {"gard": ["6639"], "mesh": ["D013103"], "umls": ["C0037889"], "orphanet": ["822"], "wikidata": ["Q541244"]} |
"LUTS" redirects here. For other uses, see Luts.
Lower urinary tract symptoms
Other namesLUTS, prostatism
SpecialtyUrology
Lower urinary tract symptoms (LUTS) refer to a group of clinical symptoms involving the bladder, urinary sphincter, urethra and, in men, the prostate. Although LUTS is a preferred t... | Lower urinary tract symptoms | c0574785 | 806 | wikipedia | https://en.wikipedia.org/wiki/Lower_urinary_tract_symptoms | 2021-01-18T18:52:20 | {"mesh": ["D059411"], "wikidata": ["Q446372"]} |
People with autism who are deemed to be cognitively "higher functioning" (with an IQ of 70 or greater) than other people with autism
High-functioning autism
SpecialtyPsychiatry
SymptomsTrouble with social interaction, impaired communication, restricted interests, repetitive behavior
ComplicationsSocial isolati... | High-functioning autism | c3840214 | 807 | wikipedia | https://en.wikipedia.org/wiki/High-functioning_autism | 2021-01-18T19:07:37 | {"umls": ["C3840214"], "icd-9": [], "icd-10": [], "wikidata": ["Q1788847"]} |
Tibial hemimelia is a rare anomaly characterized by deficiency of the tibia with relatively intact fibula. Jones et al. (1978) classified the anomaly into 4 types according to radiologic criteria. It may present as an isolated anomaly or be associated with a variety of skeletal and extraskeletal malformations. Ti... | TIBIAL HEMIMELIA | c0265633 | 808 | omim | https://www.omim.org/entry/275220 | 2019-09-22T16:21:38 | {"mesh": ["C535563"], "omim": ["275220"], "orphanet": ["93322"], "synonyms": ["Alternative titles", "THM", "TIBIA, ABSENCE OF"]} |
Disease of the skin of human fingers
Knuckle pads
SpecialtyRheumatology
Classification
D
* ICD-10: M72.1
* ICD-9-CM: 728.79
* OMIM: 149100
* DiseasesDB: 30724
External resources
* eMedicine: article/1074379
Knuckle pads (also known as "Heloderma", meaning similar to the skin of the Gil... | Knuckle pads | c0264000 | 809 | wikipedia | https://en.wikipedia.org/wiki/Knuckle_pads | 2021-01-18T18:37:42 | {"umls": ["C0264000"], "icd-9": ["728.79"], "icd-10": ["M72.1"], "wikidata": ["Q6423734"]} |
Cylindromas are non-cancerous (benign) tumors that develop from the skin. They most commonly occur on the head and neck and rarely become cancerous (malignant). An individual can develop one or many cylindromas; if a person develops only one, the cylindroma likely occurred by chance and typically is not inherited... | Dermal eccrine cylindroma | c1305968 | 810 | gard | https://rarediseases.info.nih.gov/diseases/10345/dermal-eccrine-cylindroma | 2021-01-18T18:00:54 | {"mesh": ["C536611"], "umls": ["C1305968"], "synonyms": []} |
Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG)..
## Epidemiology
The prevalence i... | Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency | c3808589 | 811 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=319600 | 2021-01-23T17:44:18 | {"omim": ["614893"], "icd-10": ["D84.8"], "synonyms": ["MSMD due to partial IRF8 deficiency", "MSMD due to partial interferon regulatory factor 8 deficiency", "Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency"]} |
Asparagine synthetase deficiency is a condition that causes neurological problems in affected individuals starting soon after birth. Most people with this condition have an unusually small head size (microcephaly) that worsens over time due to loss (atrophy) of brain tissue. They also have severe developmental delay ... | Asparagine synthetase deficiency | c3809971 | 812 | medlineplus | https://medlineplus.gov/genetics/condition/asparagine-synthetase-deficiency/ | 2021-01-27T08:24:55 | {"omim": ["615574"], "synonyms": []} |
Pancreatoblastoma
SpecialtyOncology
Pancreatoblastoma is a rare type of pancreatic cancer.[1]It occurs mainly in childhood[2][3] and has a relatively good prognosis.
## Contents
* 1 Symptoms
* 2 Pathology
* 3 Diagnosis
* 4 Treatment
* 5 See also
* 6 References
* 7 External links
## Symptoms[ed... | Pancreatoblastoma | c0334489 | 813 | wikipedia | https://en.wikipedia.org/wiki/Pancreatoblastoma | 2021-01-18T18:38:16 | {"gard": ["4210"], "mesh": ["C537162"], "umls": ["C0334489"], "orphanet": ["677"], "wikidata": ["Q7130423"]} |
A number sign (#) is used with this entry because of evidence that the disorder is caused by duplication of mitochondrial DNA.
Rotig et al. (1992) reported the cases of 2 sisters who presented in the first year of life because of failure to thrive and were found to have a severe proximal tubulopathy with polyuri... | RENAL TUBULOPATHY, DIABETES MELLITUS, AND CEREBELLAR ATAXIA | c3151959 | 814 | omim | https://www.omim.org/entry/560000 | 2019-09-22T16:16:46 | {"omim": ["560000"], "orphanet": ["3390"], "synonyms": []} |
Post-traumatic leakage of sperm provoking a granulomatous reaction.
A sperm granuloma is a lump of extravasated sperm that appears along the vasa deferentia or epididymides in vasectomized men. Sperm granulomas are rounded or irregular in shape, one millimeter to one centimeter or more, with a central mass of degene... | Sperm granuloma | c0333416 | 815 | wikipedia | https://en.wikipedia.org/wiki/Sperm_granuloma | 2021-01-18T19:01:40 | {"umls": ["C0333416"], "wikidata": ["Q1169972"]} |
Digestive duplication is a rare developmental defect during embryogenesis characterized by cystic, spherical or tubular structures (communicating or not with the lumen), located on a segment of the digestive tract (from the mouth cavity to anus), and constituted of a wall with a double smooth muscle layer and a diges... | Digestive duplication | None | 816 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=238 | 2021-01-23T18:35:24 | {"icd-10": ["Q45.8"]} |
Sommer et al. (1974) reported a brother and sister with this syndrome. The children had congenital glaucoma, telecanthus and frontal bossing as well. The parents were not related. Searches for abnormality in chromosome 11p with 'banding' methods might be worthwhile in light of the deletion found in cases of the WAGR ... | ANIRIDIA, PARTIAL, WITH UNILATERAL RENAL AGENESIS AND PSYCHOMOTOR RETARDATION | c1859782 | 817 | omim | https://www.omim.org/entry/206750 | 2019-09-22T16:30:56 | {"mesh": ["C000598722"], "omim": ["206750"], "orphanet": ["1064"]} |
For a phenotypic description and a discussion of genetic heterogeneity of colorectal cancer, see 114500.
Mapping
In a metaanalysis of 2 previously published genomewide association (GWA) studies (Tomlinson et al., 2008; Tenesa et al., 2008) comprising 13,315 individuals, Houlston et al. (2008) found an association b... | COLORECTAL CANCER, SUSCEPTIBILITY TO, 11 | c2675480 | 818 | omim | https://www.omim.org/entry/612592 | 2019-09-22T16:01:01 | {"omim": ["612592"], "synonyms": ["Alternative titles", "COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 20p"]} |
"Balis" redirects here. It is not to be confused with Barbalissos.
For the surname, see Bališ.
Usog or balis is a topic in psycho-medicine in Filipino Psychology (but considered just as a Filipino superstition in Western Psychology) where an affliction or psychological disorder is attributed to a greeting by a stra... | Usog | None | 819 | wikipedia | https://en.wikipedia.org/wiki/Usog | 2021-01-18T18:57:37 | {"wikidata": ["Q7902079"]} |
Dens in dente and deep palatal invaginations (lingual pits) of the secondary maxillary lateral incisors may be inherited as an autosomal dominant. Grahnen et al. (1959) found in a study of 3,000 Swedish children a frequency of about 3%. In 58 families studied, a similar defect was found in over one-third of paren... | DENS IN DENTE AND PALATAL INVAGINATIONS | c1852250 | 820 | omim | https://www.omim.org/entry/125300 | 2019-09-22T16:42:30 | {"mesh": ["C538211"], "omim": ["125300"]} |
## Clinical Features
Van Lohuizen (1922) described a child with livedo reticularis, telangiectases, and superficial ulceration. Way et al. (1974) found that all reported cases had been sporadic. Andreev and Pramatarov (1979) reported 2 adult sisters with CMTC. Onset was at birth in both. One developed hypertension ... | CUTIS MARMORATA TELANGIECTATICA CONGENITA | c0345419 | 821 | omim | https://www.omim.org/entry/219250 | 2019-09-22T16:29:12 | {"mesh": ["C536226"], "omim": ["219250"], "orphanet": ["1556"]} |
A number sign (#) is used with this entry because myofibrillar myopathy-4 (MFM4) is caused by heterozygous mutation in the ZASP gene (LDB3; 605906) on chromosome 10.
For a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy (MFM), see MFM1 (601419).
Clinical Features
Selcen an... | MYOPATHY, MYOFIBRILLAR, 4 | c1836155 | 822 | omim | https://www.omim.org/entry/609452 | 2019-09-22T16:06:02 | {"doid": ["0080095"], "mesh": ["C563718"], "omim": ["609452"], "orphanet": ["98912"]} |
A number sign (#) is used with this entry because of evidence that high myopia with cataract and vitreoretinal degeneration (MCVD) is caused by homozygous mutation in the LEPREL1 gene (P3H2; 610341) on chromosome 3q28.
Clinical Features
Mordechai et al. (2011) studied a large consanguineous Israeli Bedouin kindred ... | MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION | c0027092 | 823 | omim | https://www.omim.org/entry/614292 | 2019-09-22T15:55:48 | {"mesh": ["D009216"], "omim": ["614292"], "orphanet": ["98619"]} |
Hyperphosphatasia with mental retardation syndrome
Other namesimage_size = 240px
This condition is inherited in an autosomal recessive manner
Hyperphosphatasia with mental retardation syndrome, HPMRS,[1] also known as Mabry syndrome,[2] has been described in patients recruited on four continents world-wide.[... | Hyperphosphatasia with mental retardation syndrome | c1855923 | 824 | wikipedia | https://en.wikipedia.org/wiki/Hyperphosphatasia_with_mental_retardation_syndrome | 2021-01-18T18:56:51 | {"mesh": ["C565495"], "umls": ["C1855923"], "orphanet": ["247262"], "wikidata": ["Q3144186"]} |
## Summary
### Clinical characteristics.
Laing distal myopathy is characterized by early-onset weakness (usually before age 5 years) that initially involves the dorsiflexors of the ankles and great toes and then the finger extensors, especially those of the third and fourth fingers. Weakness of the neck flexors... | Laing Distal Myopathy | c4552004 | 825 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1433/ | 2021-01-18T21:15:26 | {"mesh": ["D049310"], "synonyms": ["Laing Early-Onset Distal Myopathy"]} |
A number sign (#) is used with this entry because of evidence that sialuria is caused by heterozygous mutation in the gene encoding uridinediphosphate-N-acetylglucosamine 2-epimerase (UDP-GlcNAc 2-epimerase; 603824) on chromosome 9p13.
Description
Sialuria is a rare inborn error of metabolism in which excessive fre... | SIALURIA | c2931471 | 826 | omim | https://www.omim.org/entry/269921 | 2019-09-22T16:22:27 | {"doid": ["3659"], "mesh": ["C537332"], "omim": ["269921"], "orphanet": ["3166"], "synonyms": ["Alternative titles", "SIALURIA, FRENCH TYPE"]} |
Bile duct adenocarcinoma
Cholangiocarcinoma
Other namesBile duct cancer, cancer of the bile duct[1]
Micrograph of an intrahepatic cholangiocarcinoma (right of image) adjacent to normal liver cells (left of image). H&E stain.
Pronunciation
* koh-LAN-jee-oh-KAR-sih-NOH-muh[2]
SpecialtyOncology
Sympto... | Cholangiocarcinoma | c0206698 | 827 | wikipedia | https://en.wikipedia.org/wiki/Cholangiocarcinoma | 2021-01-18T18:38:21 | {"mesh": ["D018281"], "umls": ["C0206698", "C0280725"], "icd-9": ["156.1", "155.1"], "wikidata": ["Q124292"]} |
Hemihydranencephaly
SpecialtyNeurology
Hemihydranencephaly is a severe cephalic disorder characterized by complete or almost complete absence of the cerebral cortex with preservation of meninges, basal ganglia, pons, medulla, cerebellum, and falx. It is a special type of hydranencephaly.
It is a very rare... | Hemihydranencephaly | c0751210 | 828 | wikipedia | https://en.wikipedia.org/wiki/Hemihydranencephaly | 2021-01-18T18:42:00 | {"mesh": ["D006832"], "umls": ["C0751210"], "wikidata": ["Q5711633"]} |
Holoprosencephaly-radial heart renal anomalies syndrome is characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder.
## Epidemiology
It has been described in two families (with at least seven affected per... | Holoprosencephaly-radial heart renal anomalies syndrome | c1866649 | 829 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3186 | 2021-01-23T17:33:23 | {"gard": ["2727"], "mesh": ["C566655"], "omim": ["184705"], "umls": ["C1866649"], "icd-10": ["Q87.8"], "synonyms": ["Steinfeld syndrome"]} |
Human medical condition
Vitreomacular adhesion
Schematic diagram of the human eye.
Vitreomacular adhesion (VMA) is a human medical condition where the vitreous gel (or simply vitreous, AKA vitreous humour) of the human eye adheres to the retina in an abnormally strong manner. As the eye ages, it is common for... | Vitreomacular adhesion | c2748203 | 830 | wikipedia | https://en.wikipedia.org/wiki/Vitreomacular_adhesion | 2021-01-18T18:35:59 | {"umls": ["C2748203"], "wikidata": ["Q7937230"]} |
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. (January 2020)
Axial and sagittal CT views of a vertebral hemangioma
T1, T2, and STIR MRI images of a vertebral hemangioma
A vertebral hemangioma (V... | Vertebral hemangioma | c3495935 | 831 | wikipedia | https://en.wikipedia.org/wiki/Vertebral_hemangioma | 2021-01-18T18:54:28 | {"umls": ["C3495935"], "wikidata": ["Q65091065"]} |
Shrunken, non-functional eye
Phthisis bulbi
Phthisis bulbi of the right eye due to complication of eye surgery
SpecialtyOphthalmology
SymptomsShrunken eye with little or no function
CausesEye surgery
Risk factorsEye injury, Eye surgery, eye disease
PreventionBy treating the condition before the eye goes ... | Phthisis bulbi | c0154788 | 832 | wikipedia | https://en.wikipedia.org/wiki/Phthisis_bulbi | 2021-01-18T18:38:15 | {"umls": ["C0154788"], "icd-10": ["H44.5"], "wikidata": ["Q906264"]} |
Scalp-ear-nipple syndrome, as its name suggests, is a condition characterized by abnormalities of the scalp, ears, and nipples. Less frequently, affected individuals have problems affecting other parts of the body. The features of this disorder can vary even within the same family.
Babies with scalp-ear-nipple s... | Scalp-ear-nipple syndrome | c1867020 | 833 | medlineplus | https://medlineplus.gov/genetics/condition/scalp-ear-nipple-syndrome/ | 2021-01-27T08:24:54 | {"gard": ["159"], "mesh": ["C536623"], "omim": ["181270"], "synonyms": []} |
## Clinical Features
Mehes and Petrovicz (1982) found hypocupremia with normal ceruloplasmin (117700) levels in a 21-month-old boy admitted to hospital because of repeated seizures and failure to thrive. He had blond curly hair, spurring of the femurs and tibias, and mild anemia, but his mental development, electro... | COPPER DEFICIENCY, FAMILIAL BENIGN | c1852576 | 834 | omim | https://www.omim.org/entry/121270 | 2019-09-22T16:43:03 | {"mesh": ["C535468"], "omim": ["121270"], "orphanet": ["1551"]} |
Not to be confused with Trichodysplasia spinulosa.
Trichostasis spinulosa
SpecialtyDermatology
Trichostasis spinulosa is a common but rarely diagnosed disorder of the hair follicles[1] that clinically gives the impression of blackheads, but the follicles are filled with funnel-shaped, horny plugs that are bun... | Trichostasis spinulosa | c0263487 | 835 | wikipedia | https://en.wikipedia.org/wiki/Trichostasis_spinulosa | 2021-01-18T18:53:45 | {"gard": ["5269"], "mesh": ["C536558"], "umls": ["C0263487"], "wikidata": ["Q7841016"]} |
Slipped capital femoral epiphysis
Other namesSlipped upper femoral epiphysis, coxa vara adolescentium, SCFE, SUFE
X-ray showing a slipped capital femoral epiphysis, before and after surgical fixation.
SpecialtyOrthopedic surgery
SymptomsGroin pain, referred knee and thigh pain, waddling gait, restricted r... | Slipped capital femoral epiphysis | c0149887 | 836 | wikipedia | https://en.wikipedia.org/wiki/Slipped_capital_femoral_epiphysis | 2021-01-18T18:54:51 | {"gard": ["11001"], "mesh": ["D060048"], "umls": ["C0149887"], "icd-10": ["M93.0"], "orphanet": ["399329"], "wikidata": ["Q442615"]} |
A type of hereditary congenital cataract, distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus, and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens.
*[v]: View this template
*[t]: Discu... | Cerulean cataract | c0344523 | 837 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98989 | 2021-01-23T18:46:39 | {"gard": ["9508"], "mesh": ["C537955"], "omim": ["115660", "614422"], "umls": ["C0344523"], "icd-10": ["Q12.0"], "synonyms": ["Blue-dot cataract"]} |
Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome is a rare, genetic, eye disease characterized by foveal hypoplasia, optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex, and posterior embryotoxon or Axen... | Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome | c3807873 | 838 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=397618 | 2021-01-23T18:26:00 | {"omim": ["609218"], "icd-10": ["Q15.8"], "synonyms": ["FHONDA syndrome"]} |
Ichthyosis
Other namesIchthyoses
Ichthyosis is characterized by rough, scaly skin.
SpecialtyDermatology
Ichthyosis is a family of genetic skin disorders characterized by dry, thickened, scaly skin.[1] The more than 20 types of ichthyosis range in severity of symptoms, outward appearance, underlying genetic... | Ichthyosis | c0020757 | 839 | wikipedia | https://en.wikipedia.org/wiki/Ichthyosis | 2021-01-18T19:07:29 | {"mesh": ["D007057"], "umls": ["C0020757", "C0020758"], "icd-9": ["757.1"], "icd-10": ["Q80"], "orphanet": ["79354"], "wikidata": ["Q523893"]} |
A number sign (#) is used with this entry because of evidence that succinic semialdehyde dehydrogenase deficiency (SSADHD) is caused by homozygous or compound heterozygous mutation in the ALDH5A1 gene (610045) on chromosome 6p22.
Description
Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare auto... | SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY | c0268631 | 840 | omim | https://www.omim.org/entry/271980 | 2019-09-22T16:22:00 | {"doid": ["0060175"], "mesh": ["C535803"], "omim": ["271980"], "icd-10": ["E72.81"], "orphanet": ["22"], "synonyms": ["Alternative titles", "SSADH DEFICIENCY", "4-HYDROXYBUTYRIC ACIDURIA", "GABA METABOLIC DEFECT", "GAMMA-HYDROXYBUTYRIC ACIDURIA"], "genereviews": ["NBK1195"]} |
A number sign (#) is used with this entry because of evidence that hypomyelinating leukodystrophy-17 (HLD17) is caused by homozygous mutation in the AIMP2 gene (600859) on chromosome 7p22.
Description
Hypomyelinating leukodystrophy-17 is an autosomal recessive neurodevelopmental disorder characterized by poor, if a... | LEUKODYSTROPHY, HYPOMYELINATING, 17 | c4693912 | 841 | omim | https://www.omim.org/entry/618006 | 2019-09-22T15:44:06 | {"omim": ["618006"]} |
A number sign (#) is used with this entry because brittle cornea syndrome-1 (BCS1) is caused by homozygous mutation in the ZNF469 gene (612078) on chromosome 16q24.
Description
Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelast... | BRITTLE CORNEA SYNDROME 1 | c0268344 | 842 | omim | https://www.omim.org/entry/229200 | 2019-09-22T16:27:54 | {"doid": ["14775"], "mesh": ["C536192"], "omim": ["229200"], "orphanet": ["90354"], "synonyms": ["Alternative titles", "FRAGILITAS OCULI WITH JOINT HYPEREXTENSIBILITY", "CORNEAL FRAGILITY, KERATOGLOBUS, BLUE SCLERAE, JOINT HYPEREXTENSIBILITY", "DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE", "EHLERS-DANLOS SYNDROME, TYPE ... |
Cancer involving the vulva
Vulvar cancer
Drawing of vulvar cancer
SpecialtyGynecology
SymptomsLump, itchiness, changes in the skin, or bleeding of the vulva[1]
Usual onsetAfter the age of 45[2]
TypesSquamous cell cancer, adenocarcinoma, melanoma, sarcoma, basal cell carcinoma.[3]
Risk factorsVulvar intra... | Vulvar cancer | c0375071 | 843 | wikipedia | https://en.wikipedia.org/wiki/Vulvar_cancer | 2021-01-18T18:48:24 | {"gard": ["9349"], "mesh": ["D014846"], "umls": ["C0375071", "C0042995"], "wikidata": ["Q1908194"]} |
Hypervalinemia
Other namesValinemia or Valine transaminase deficiency[1]
Valine
Symptomsloss of apetite, vomiting, hypotonia, dehydration and failure to thrive.
Usual onset1-2 years
Hypervalinemia, is a rare autosomal recessive metabolic disorder in which urinary and serum levels of the branched-chai... | Hypervalinemia | c0268573 | 844 | wikipedia | https://en.wikipedia.org/wiki/Hypervalinemia | 2021-01-18T18:51:52 | {"gard": ["7845"], "mesh": ["C536524"], "umls": ["C0268573"], "icd-9": ["270.3"], "wikidata": ["Q5958808"]} |
Gliosarcoma
Other namesSarcomatous glioblastoma [1]
Micrograph showing a gliosarcoma. Elastic van Gieson's stain.
SpecialtyOncology
Gliosarcoma is a rare type of glioma, a cancer of the brain that comes from glial, or supportive, brain cells, as opposed to the neural brain cells. Gliosarcoma is a malig... | Gliosarcoma | c0206726 | 845 | wikipedia | https://en.wikipedia.org/wiki/Gliosarcoma | 2021-01-18T18:35:11 | {"gard": ["5653"], "mesh": ["D018316"], "umls": ["C0206726"], "orphanet": ["251576"], "wikidata": ["Q609503"]} |
The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy.
## Epidemiology
Its prevalence is unknown. It predominantly affects males.
## Clinical description
The disease manifests du... | Null syndrome | c0205711 | 846 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=280234 | 2021-01-23T17:36:24 | {"mesh": ["D020371"], "omim": ["312080"], "icd-10": ["E75.2"], "synonyms": ["PLP1 null syndrome", "Pelizaeus-Merzbacher disease, null syndrome"]} |
Not to be confused with Haemolytic disease of the newborn.
Vitamin K deficiency bleeding of the newborn
Other namesHaemorrhagic disease of the newborn
Vitamin K1
SpecialtyPediatrics
SymptomsBleeding
Usual onsetBirth to 2 months of age
TypesEarly, Classical, Late
CausesVitamin K deficiency
PreventionV... | Vitamin K deficiency bleeding | c0019088 | 847 | wikipedia | https://en.wikipedia.org/wiki/Vitamin_K_deficiency_bleeding | 2021-01-18T18:41:25 | {"mesh": ["D006475"], "umls": ["C0019088"], "icd-9": ["776.0"], "icd-10": ["P53"], "wikidata": ["Q1671351"]} |
Early-onset generalized dystonia is a neurologic movement disorder that usually begins in childhood or adolescence. This is the most common hereditary form of dystonia. Symptoms start in one part of the body (usually an arm, foot, or leg) and are usually first apparent with actions such as writing or walking. Wi... | DYT-TOR1A | c1851945 | 848 | gard | https://rarediseases.info.nih.gov/diseases/2027/dyt-tor1a | 2021-01-18T18:00:46 | {"omim": ["128100"], "orphanet": ["256"], "synonyms": ["DYT1", "Early onset torsion dystonia", "EOTD", "Dystonia musculorum deformans 1", "Early-onset primary dystonia", "Oppenheim's dystonia", "Idiopathic dystonia DYT1", "Idiopathic torsion dystonia", "Dystonia 1, torsion, autosomal dominant", "DYT-TOR1A dystonia", "D... |
Dominant inheritance with reduced penetrance was suggested by Arnoldi (1958). He thought that late menarche is related to varicosity. Varicose veins were about twice as frequent in females as in males and no male-to-male transmission was indicated in his illustrative pedigree. Possible X-linked dominance should be co... | VARICOSE VEINS | c0042345 | 849 | omim | https://www.omim.org/entry/192200 | 2019-09-22T16:32:02 | {"doid": ["799"], "mesh": ["D014648"], "omim": ["192200"], "icd-10": ["I83.90"]} |
Localized collection of pus that has built up within the tissue of the body
This article is about the medical condition. For the death metal band, see Abscess (band).
Abscess
Other namesLatin: Abscessus
Five-day-old inflamed epidermal inclusion cyst. The black spot is a keratin plug which connects with the unde... | Abscess | c0000833 | 850 | wikipedia | https://en.wikipedia.org/wiki/Abscess | 2021-01-18T18:50:13 | {"mesh": ["D000038"], "umls": ["C0000833"], "icd-9": ["682.9", "324.1"], "icd-10": ["L02"], "wikidata": ["Q164655"]} |
A number sign (#) is used with this entry because familial exudative vitreoretinopathy-5 (EVR5) is caused by heterozygous mutations in the TSPAN12 gene (613138) on chromosome 7q31. Severely affected individuals with homozygous or compound heterozygous mutations in TSPAN12 have also been reported.
Description
Fa... | EXUDATIVE VITREORETINOPATHY 5 | c0339539 | 851 | omim | https://www.omim.org/entry/613310 | 2019-09-22T15:59:03 | {"doid": ["0050535"], "mesh": ["C580083"], "omim": ["613310"], "orphanet": ["891"], "genereviews": ["NBK1147"]} |
A number sign (#) is used with this entry because of evidence that methemoglobinemia and ambiguous genitalia is caused by homozygous mutation in the microsomal cytochrome b5 gene (CYB5A; 613218) on chromosome 18q22.
Description
Methemoglobinemia and ambiguous genitalia is due to isolated 17,20-lyase deficiency, def... | METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA | c0272087 | 852 | omim | https://www.omim.org/entry/250790 | 2019-09-22T16:25:15 | {"mesh": ["C580280"], "omim": ["250790"], "orphanet": ["621"], "synonyms": ["Alternative titles", "ISOLATED 17,20-LYASE DEFICIENCY, PURE", "METHEMOGLOBINEMIA TYPE IV, FORMERLY", "METHEMOGLOBINEMIA DUE TO DEFICIENCY OF CYTOCHROME b5, FORMERLY"]} |
Pseudohypoparathyroidism type 1A is a type of pseudohypoparathyroidism. Pseudohypoparathyroidism is when your body is unable to respond to parathyroid hormone, which is a hormone that controls the levels of calcium, phosphorous, and vitamin D in the blood. The symptoms are very similar to hypoparathyroidism (when par... | Pseudohypoparathyroidism type 1A | c0033806 | 853 | gard | https://rarediseases.info.nih.gov/diseases/7486/pseudohypoparathyroidism-type-1a | 2021-01-18T17:58:06 | {"mesh": ["D011547"], "omim": ["103580"], "umls": ["C0033806"], "orphanet": ["79443"], "synonyms": ["PHP1A", "Albright hereditary osteodystrophy with multiple hormone resistance"]} |
Gould (1942) described the condition in grandfather, father and son, i.e., males of 3 generations. X-rays were not described. Exostosis of the heel, possibly of the same type, is a manifestation of the Reiter syndrome, a rheumatic disorder that shows a high order of association with a specific HLA type (142800), name... | EXOSTOSES OF HEEL | c0877431 | 854 | omim | https://www.omim.org/entry/133600 | 2019-09-22T16:41:29 | {"mesh": ["C563167"], "omim": ["133600"]} |
Papillary tumor of the pineal region (PTPR) is a very rare neoplasm of the pineal region that is thought to arise from the specialized ependymocytes of the subcommissural organ and that manifests with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalu... | Papillary tumor of the pineal region | c2985219 | 855 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251915 | 2021-01-23T17:59:32 | {"umls": ["C2985219"], "icd-10": ["D44.5"], "synonyms": ["PTPR"]} |
Urrets-Zavalia (1955) observed 2 families with a syndrome consisting of agenesis of the orbital margin, hypoplasia of the palpebral skin and tarsal plates, and variable defects of the lacrimal passages including ectopia and elongation of the lower punctum, shortening or absence of the inferior canaliculi, supernumera... | ORBITAL MARGIN, HYPOPLASIA OF | c1833795 | 856 | omim | https://www.omim.org/entry/165600 | 2019-09-22T16:37:05 | {"mesh": ["C563490"], "omim": ["165600"], "orphanet": ["98606"]} |
Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of ... | Mitochondrial complex II deficiency | c1855008 | 857 | gard | https://rarediseases.info.nih.gov/diseases/5053/mitochondrial-complex-ii-deficiency | 2021-01-18T17:59:03 | {"mesh": ["C565375"], "omim": ["252011"], "umls": ["C1855008"], "orphanet": ["3208"], "synonyms": ["Complex 2 mitochondrial respiratory chain deficiency", "Succinate CoQ reductase deficiency", "Mitochondrial respiratory chain complex II deficiency", " Succinate dehydrogenase deficiency"]} |
Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails.
## Epidemiology
The d... | Generalized dominant dystrophic epidermolysis bullosa | c0432322 | 858 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=231568 | 2021-01-23T19:03:28 | {"gard": ["2139"], "mesh": ["C535956"], "omim": ["131750"], "umls": ["C0432322"], "icd-10": ["Q81.2"], "synonyms": ["Autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types", "DDEB, Pasini and Cockayne-Touraine types", "DDEB, generalized", "DDEB-gen"]} |
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 panel of 1,182 individuals with Crohn disease and 2,024 controls, Parkes et al. (2007) analyzed 37 SNPs from 31 distinct ... | INFLAMMATORY BOWEL DISEASE 21 | c2676507 | 859 | omim | https://www.omim.org/entry/612354 | 2019-09-22T16:01:46 | {"mesh": ["C567338"], "omim": ["612354"]} |
## Clinical Features
Robbins and Keene (1964) reported a 19-year-old boy whose teeth showed partial pegging, deep lingual pits, exaggeration of middle labial lobes of the canines, and reduced premolar size. One sib was normal. In 5 generations, 10 persons showed odd shaped teeth; among the children of those affecte... | TEETH, ODD SHAPES OF | c1861276 | 860 | omim | https://www.omim.org/entry/187000 | 2019-09-22T16:32:54 | {"mesh": ["C566076"], "omim": ["187000"]} |
A number sign (#) is used with this entry because autosomal recessive cytochrome b-positive chronic granulomatous disease (CGD) type II is caused by homozygous or compound heterozygous mutation in the NCF2 gene (608515), which encodes the p67-phox (phagocyte oxidase) protein, on chromosome 1q25.
A more common form o... | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II | c0018203 | 861 | omim | https://www.omim.org/entry/233710 | 2019-09-22T16:27:21 | {"doid": ["0070191"], "mesh": ["D006105"], "omim": ["233710"], "orphanet": ["379"], "synonyms": ["Alternative titles", "CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE II", "GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF2 DEFICIENCY", "NEUTROPHIL CYTOSOL FACTOR 2, DEFICIENCY OF", "NCF2, DEFICIENCY OF", "p67-PHOX, DEFI... |
Ichthyosis vulgaris
Ichthyosis vulgaris #1 (top-left)
SpecialtyMedical genetics
Ichthyosis vulgaris (also known as "Autosomal dominant ichthyosis,"[1] and "Ichthyosis simplex"[1]) is a skin disorder causing dry, scaly skin. It is the most common form of ichthyosis,[2]:486 affecting around 1 in 250 people.[3]... | Ichthyosis vulgaris | c0079584 | 862 | wikipedia | https://en.wikipedia.org/wiki/Ichthyosis_vulgaris | 2021-01-18T18:45:45 | {"gard": ["6752"], "mesh": ["D016112"], "umls": ["C0079584"], "icd-9": ["757.1"], "orphanet": ["462"], "wikidata": ["Q3765145"]} |
A cardiac disorder characterized on electrocardiogram (ECG) by ST segment elevation with a coved aspect on the right precordial leads, and a clinical susceptibility to ventricular tachyarrhythmias and sudden death occurring in the absence of overt myocardial abnormalities.
## Epidemiology
Given that the ECG pat... | Brugada syndrome | c1142166 | 863 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=130 | 2021-01-23T18:33:08 | {"gard": ["1030"], "mesh": ["D053840"], "omim": ["601144", "611777", "611875", "611876", "612838", "613119", "613120", "613123", "616399"], "umls": ["C1142166", "C1955837"], "icd-10": ["I49.8"], "synonyms": ["Idiopathic ventricular fibrillation, Brugada type"]} |
Condition that affects the arteries that supply the brain
"Cerebrovascular diseases" redirects here. For the medical journal, see Cerebrovascular Diseases (journal).
Cerebrovascular disease
Cerebral angiogram of a carotid-cavernous fistula
SpecialtyNeurology
SymptomsWeakness on one side of body[1]
TypesStro... | Cerebrovascular disease | c0038454 | 864 | wikipedia | https://en.wikipedia.org/wiki/Cerebrovascular_disease | 2021-01-18T18:56:36 | {"mesh": ["D020521", "D002561"], "umls": ["C0038454", "C0007820"], "icd-10": ["I60", "I69"], "wikidata": ["Q3010352"]} |
Cornelia de Lange syndrome (CdLS) is a developmental disorder that affects many parts of the body. The severity of the condition and the associated signs and symptoms can vary widely, but may include distinctive facial characteristics, growth delays, intellectual disability and limb defects. Approximately 60% of ... | Cornelia de Lange syndrome | c0270972 | 865 | gard | https://rarediseases.info.nih.gov/diseases/10109/cornelia-de-lange-syndrome | 2021-01-18T18:01:05 | {"mesh": ["D003635"], "omim": ["122470"], "umls": ["C0270972"], "orphanet": ["199"], "synonyms": ["Brachmann de Lange syndrome", "CDLS", "De Lange syndrome", "Typus degenerativus amstelodamensis"]} |
A number sign (#) is used with this entry because of evidence that congenital nongoitrous hypothyroidism-4 (CHNG4) is caused by homozygous mutation in the TSHB gene (188540) on chromosome 1p13.
For a general phenotypic description and a discussion of genetic heterogeneity of congenital nongoitrous hypothyroidism, se... | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4 | c1848794 | 866 | omim | https://www.omim.org/entry/275100 | 2019-09-22T16:21:38 | {"doid": ["0070123"], "mesh": ["C564765"], "omim": ["275100"], "orphanet": ["90674"], "synonyms": ["Alternative titles", "Isolated thyrotropin deficiency", "THYROTROPIN DEFICIENCY, ISOLATED", "Isolated TSH deficiency", "PITUITARY CRETINISM", "THYROID-STIMULATING HORMONE DEFICIENCY", "TSH DEFICIENCY"]} |
A rare congenital cardiac malformation that is a variant of an atrioventricular septal defect (AVSD) with an interatrial communication (ostium primum defect) just above the common atrioventricular (AV) valve, no interventricular communication just below the atrioventricular valve, a common atrioventricular junction b... | Partial atrioventricular septal defect | c0344735 | 867 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1330 | 2021-01-23T17:54:52 | {"gard": ["4229"], "mesh": ["C536112"], "umls": ["C0344735"], "icd-10": ["Q21.2"], "synonyms": ["PAVC", "Partial AVSD", "Partial atrioventricular canal defect"]} |
Yellow nail syndrome is a very rare disorder characterized by three features: yellow nail discoloration, respiratory problems, and lower limb swelling (lymphedema). It usually occurs in people over age 50, but can occur in younger people. In addition to being yellow, nails may lack a cuticle, grow very slowly, and be... | Yellow nail syndrome | c0221348 | 868 | gard | https://rarediseases.info.nih.gov/diseases/184/yellow-nail-syndrome | 2021-01-18T17:57:01 | {"mesh": ["D056684"], "omim": ["153300"], "umls": ["C0221348"], "orphanet": ["662"], "synonyms": ["Lymphedema with yellow nails", "YNS"]} |
Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occu... | Fibrochondrogenesis | c0265282 | 869 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2021 | 2021-01-23T18:20:57 | {"gard": ["2321"], "mesh": ["C562524"], "omim": ["228520", "614524"], "umls": ["C0265282"], "icd-10": ["Q77.7"]} |
Glycogen storage disease type 6 (GSD6) is a genetic disease in which the liver cannot process sugar properly. The liver is responsible for breaking down a substance called glycogen. Glycogen is the stored form of sugar that is made by breaking down carbohydrates. When the liver cannot break down glycogen properly it ... | Glycogen storage disease type 6 | c0017925 | 870 | gard | https://rarediseases.info.nih.gov/diseases/6529/glycogen-storage-disease-type-6 | 2021-01-18T18:00:15 | {"mesh": ["D006013"], "omim": ["232700"], "umls": ["C0017925"], "orphanet": ["369"], "synonyms": ["GSD6", "Glycogen storage disease 6", "Hers disease", "Phosphorylase deficiency glycogen-storage disease of liver"]} |
A rare ciliopathy characterized by congenital moderate-to-severe deafness, retinitis pigmentosa developing in the first or second decade, and normal vestibular function. Congenital bilateral sensorineural hearing loss is mild to moderate in the low frequencies and severe to profound in the higher frequencies. Additio... | Usher syndrome type 2 | c1568249 | 871 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=231178 | 2021-01-23T17:37:54 | {"gard": ["5440"], "mesh": ["D052245"], "omim": ["276901", "605472", "611383"], "umls": ["C0339534", "C1568249"], "icd-10": ["H35.5"], "synonyms": ["USH2"]} |
## Description
Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).
For a discussion... | MYOPIA 15, AUTOSOMAL DOMINANT | c2675180 | 872 | omim | https://www.omim.org/entry/612717 | 2019-09-22T16:00:43 | {"mesh": ["C567193"], "omim": ["612717"]} |
Squamous cell skin cancer
Other namesCutaneous squamous cell carcinoma (cSCC), epidermoid carcinoma, squamous cell epithelioma
SCC of the skin tends to arise from pre-malignant lesions, actinic keratoses; surface is usually scaly and often ulcerates (as shown here).
SpecialtyDermatology, plastic surgery, otorhi... | Squamous cell skin cancer | c0553723 | 873 | wikipedia | https://en.wikipedia.org/wiki/Squamous_cell_skin_cancer | 2021-01-18T18:59:18 | {"umls": ["C0553723"], "wikidata": ["Q5749018"]} |
Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic o... | Cerebral arteriovenous malformation | c0007772 | 874 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=46724 | 2021-01-23T18:21:38 | {"gard": ["3020"], "mesh": ["D002538"], "omim": ["108010"], "umls": ["C0007772", "C0917804"], "icd-10": ["Q28.2"], "synonyms": ["Intracranial arteriovenous malformation"]} |
A number sign (#) is used with this entry because 3M syndrome-3 (3M3) can be caused by homozygous mutation in the CCDC8 gene (614145) on chromosome 19q13.
Description
The 3M syndrome is characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tippe... | THREE M SYNDROME 3 | c1851996 | 875 | omim | https://www.omim.org/entry/614205 | 2019-09-22T15:56:07 | {"doid": ["0060241"], "mesh": ["C535725"], "omim": ["614205"], "orphanet": ["2616"], "synonyms": ["Alternative titles", "3M SYNDROME 3"], "genereviews": ["NBK1481"]} |
Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakne... | Isolated autosomal dominant hypomagnesemia, Glaudemans type | None | 876 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=199326 | 2021-01-23T17:27:41 | {"icd-10": ["E83.4"]} |
## Description
Segmental spinal muscular atrophy is a form of anterior horn cell disease that affects predominantly the hand muscles (Kamholz et al., 1988). The disease is usually sporadic and nonprogressive.
Cytogenetics
Kamholz et al. (1988) found typical features of segmental spinal muscular atrophy in a woman... | SPINAL MUSCULAR ATROPHY, SEGMENTAL | c1866774 | 877 | omim | https://www.omim.org/entry/183020 | 2019-09-22T16:34:33 | {"mesh": ["C566670"], "omim": ["183020"]} |
## Summary
### Clinical characteristics.
Noonan syndrome with multiple lentigines (NSML) is a condition in which the cardinal features consist of lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features, including widely spaced eyes and ptosis. Multiple lentigines pre... | Noonan Syndrome with Multiple Lentigines | c0175704 | 878 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1383/ | 2021-01-18T21:07:28 | {"mesh": ["D044542"], "synonyms": ["LEOPARD Syndrome", "Multiple Lentigines Syndrome"]} |
A very rare surgically-correctable form of primary aldosteronism (PA) due to an aldosterone-secreting adrenal malignancy.
## Epidemiology
The prevalence of adrenocortical carcinoma with pure aldosterone hypersecretion is unknown.
## Clinical description
Pure APAC is characterized by renin suppression, unilateral ... | Adrenocortical carcinoma with pure aldosterone hypersecretion | None | 879 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=231625 | 2021-01-23T18:21:06 | {"icd-10": ["C74.0"], "synonyms": ["Pure APAC", "Pure aldosterone-producing adrenocortical carcinoma", "Pure aldosterone-secreting adrenocortical carcinoma"]} |
A number sign (#) is used with this entry because of evidence that the Penttinen type of premature aging syndrome (PENTT) is caused by heterozygous mutation in the PDGFRB gene (173410) on chromosome 5q32.
Description
Penttinen syndrome is characterized by a prematurely aged appearance involving lipoatrophy and epid... | PREMATURE AGING SYNDROME, PENTTINEN TYPE | c1866182 | 880 | omim | https://www.omim.org/entry/601812 | 2019-09-22T16:14:17 | {"mesh": ["C536653"], "omim": ["601812"], "orphanet": ["363665"]} |
Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint th... | Pilomatrixoma | c0206711 | 881 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=91414 | 2021-01-23T18:40:51 | {"gard": ["9452"], "mesh": ["D018296"], "omim": ["132600"], "umls": ["C0206711"], "icd-10": ["D23.3", "D23.4", "D23.6"], "synonyms": ["Epithelioma calcificans of Malherbe", "Pilomatricoma"]} |
Gallin (1988) observed an apparently autosomal dominant cytochrome-b-positive form of chronic granulomatous disease of childhood.
Immunology \- Chronic granulomatous disease of childhood Lab \- Cytochrome-b-positive Inheritance \- Autosomal dominant form ▲ Close
*[v]: View this template
*[t]: Discuss this te... | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL DOMINANT TYPE | c1841825 | 882 | omim | https://www.omim.org/entry/138990 | 2019-09-22T16:40:35 | {"mesh": ["C564210"], "omim": ["138990"]} |
Juxtaglomerular cell tumor
Other namesReninoma
SpecialtyNephrology/oncology
Juxtaglomerular cell tumor (JCT, JGCT, also reninoma) is an extremely rare kidney tumour of the juxtaglomerular cells, with less than 100 cases reported in literature. This tumor typically secretes renin, hence the former name of ren... | Juxtaglomerular cell tumor | c0334331 | 883 | wikipedia | https://en.wikipedia.org/wiki/Juxtaglomerular_cell_tumor | 2021-01-18T19:06:29 | {"umls": ["C0334331"], "wikidata": ["Q6319133"]} |
A number sign (#) is used with this entry because an autosomal dominant form of fundus albipunctatus can be caused by mutation in the RDS gene (PRPH2; 179605) and an autosomal recessive form can be caused by mutation in the RDH5 gene (601617). Furthermore, this fundus picture also occurs in Bietti crystalline cor... | FUNDUS ALBIPUNCTATUS | c0311338 | 884 | omim | https://www.omim.org/entry/136880 | 2019-09-22T16:40:55 | {"doid": ["11105"], "mesh": ["C562733"], "omim": ["136880"], "orphanet": ["52427", "227796"]} |
"Zika" redirects here. For other uses, see Zika (disambiguation).
Infectious disease caused by the Zika virus
Zika fever
Other namesZika virus disease, Zika, Zika virus infection
Rash during Zika fever infection
Pronunciation
* Zika /ˈziːkə/
SpecialtyInfectious disease
SymptomsFever, red eyes, joi... | Zika fever | c0276289 | 885 | wikipedia | https://en.wikipedia.org/wiki/Zika_fever | 2021-01-18T18:45:21 | {"mesh": ["D000071243"], "umls": ["C0276289"], "icd-10": ["U06"], "orphanet": ["448237"], "wikidata": ["Q8071861"]} |
Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.
## Epidemiology
Incidence is estimated at 1/200,000 births.
## Clinical description
Patients generally present at b... | Netherton syndrome | c0265962 | 886 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=634 | 2021-01-23T19:08:45 | {"gard": ["7182"], "mesh": ["D056770"], "omim": ["256500"], "umls": ["C0265962"], "icd-10": ["Q80.8"], "synonyms": ["Bamboo hair syndrome", "Comèl-Netherton syndrome", "NS"]} |
Diffuse infiltrative lymphocytosis syndrome
SpecialtyImmunology
Diffuse infiltrative lymphocytosis syndrome occurs in HIV positive patients with low CD4 counts.[1][2]
It is similar to Sjögren's syndrome,[3] with painless parotid and submandibular swelling, and sicca symptoms.
The syndrome typically improves ... | Diffuse infiltrative lymphocytosis syndrome | c1333292 | 887 | wikipedia | https://en.wikipedia.org/wiki/Diffuse_infiltrative_lymphocytosis_syndrome | 2021-01-18T19:09:51 | {"umls": ["C1333292"], "wikidata": ["Q5275415"]} |
This article may need to be rewritten to comply with Wikipedia's quality standards. You can help. The talk page may contain suggestions. (June 2020)
Abortion in Missouri is legal.
In 1900, Missouri criminalized abortion[citation needed]. It was legalized after the Roe v. Wade decision in 1973. Peaking at 29... | Abortion in Missouri | None | 888 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_Missouri | 2021-01-18T18:30:59 | {"wikidata": ["Q64876932"]} |
A rare, genetic dysostosis with predominant craniofacial involvement characterized by bilateral external ear malformations, mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, full cheeks, developmental del... | Auriculocondylar syndrome | c1865295 | 889 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=137888 | 2021-01-23T18:09:52 | {"gard": ["9798"], "mesh": ["C538270"], "omim": ["602483", "612798", "614669", "615706"], "umls": ["C1865295"], "icd-10": ["Q75.8"], "synonyms": ["Question mark ear syndrome"]} |
Ataxia with oculomotor apraxia is a condition characterized by problems with movement that worsen over time. The hallmark of this condition is poor coordination and balance (ataxia), which is often the first symptom. Most affected people also have oculomotor apraxia, which makes it difficult to move their eyes side-t... | Ataxia with oculomotor apraxia | c1859598 | 890 | medlineplus | https://medlineplus.gov/genetics/condition/ataxia-with-oculomotor-apraxia/ | 2021-01-27T08:25:54 | {"gard": ["9283", "12860", "13112", "13111"], "mesh": ["C538013"], "omim": ["208920", "615217", "616267", "606002"], "synonyms": []} |
Subacute lymphocytic thyroiditis
Other namesSilent thyroiditis or Painless thyroiditis
SpecialtyEndocrinology
Subacute lymphocytic thyroiditis is a form of thyroiditis. Subacute lymphocytic thyroiditis may occur at any age and is more common in females.
A variant of subacute lymphocytic thyroiditis occurs p... | Subacute lymphocytic thyroiditis | c1306804 | 891 | wikipedia | https://en.wikipedia.org/wiki/Subacute_lymphocytic_thyroiditis | 2021-01-18T18:57:30 | {"umls": ["C1306804"], "wikidata": ["Q4368172"]} |
Seizures-intellectual disability due to hydroxylysinuria syndrome is characterised by hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient.
*[v]: View this template
*[t]: Discuss this... | Seizures-intellectual disability due to hydroxylysinuria syndrome | c1855986 | 892 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79156 | 2021-01-23T17:14:59 | {"mesh": ["C565502"], "omim": ["236900"], "icd-10": ["E72.3"]} |
A rare neoplastic gastroenterologic disease most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting, abdominal pain, jaundice, and weight loss/failure to thrive. Histologically, this malignant epithelial pancreatic neoplasm of the exocrine cells is characterize... | Pancreatoblastoma | c0334489 | 893 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=677 | 2021-01-23T17:59:45 | {"gard": ["4210"], "mesh": ["C537162"], "umls": ["C0334489"], "icd-10": ["C25.1"]} |
HCV infections in children and pregnancy are less understood than in adults. Worldwide, the prevalence of hepatitis C virus infection in pregnant women and children has been estimated to 1-8% and 0.05-5% respectively.[1] The vertical transmission rate has been estimated to be 3-5% and there is a high rate of spontane... | HCV in children and pregnancy | None | 894 | wikipedia | https://en.wikipedia.org/wiki/HCV_in_children_and_pregnancy | 2021-01-18T18:58:39 | {"wikidata": ["Q17082305"]} |
Judging by the family of a colleague, McKusick (1986) suggested that space between the great toe and the second toe may be inherited as an irregular autosomal dominant.
Limbs \- Space between great toe and second toe Inheritance \- Autosomal dominant ▲ Close
*[v]: View this template
*[t]: Discuss this te... | TOES, SPACE BETWEEN FIRST AND SECOND | c1861058 | 895 | omim | https://www.omim.org/entry/189230 | 2019-09-22T16:32:29 | {"omim": ["189230"]} |
SCN2A related disorders are a group of epilepsy and neurodevelopmental disorders, each caused by changes (mutations) in a gene called SCN2A. These disorders range from mild to severe and primarily include:
* Infantile epileptic encephalopathy (IEE) - characterized by seizures beginning in infancy (before 12 mont... | SCN2A related disorders | None | 896 | gard | https://rarediseases.info.nih.gov/diseases/13355/scn2a-related-disorders | 2021-01-18T17:57:47 | {"synonyms": ["SCN2A-related disorders", "SCN2A related conditions", "SCN2A-related epilepsy", "SCN2A disorders", "SCN2a mutations", "SCN2A mutation"]} |
Peters anomaly is a disorder of the eye which involves thinning and clouding of the cornea and attachment of the iris to the cornea, which causes blurred vision. It may also be associated with clouding of the lens of the eye (cataracts) or other lens abnormalities. The cause of Peters anomaly is unknown; it may be ca... | Peters anomaly | c0344559 | 897 | gard | https://rarediseases.info.nih.gov/diseases/7377/peters-anomaly | 2021-01-18T17:58:21 | {"mesh": ["C537884"], "omim": ["604229"], "umls": ["C0344559"], "orphanet": ["708"], "synonyms": []} |
## Summary
### Clinical characteristics.
X-linked protoporphyria (XLP) is characterized in affected males by cutaneous photosensitivity (usually beginning in infancy or childhood) that results in tingling, burning, pain, and itching within minutes of sun/light exposure and may be accompanied by swelling and redness... | X-Linked Protoporphyria | None | 898 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK121284/ | 2021-01-18T20:48:12 | {"synonyms": []} |
A number sign (#) is used with this entry because of evidence that spermatogenic failure-4 (SPGF4) and recurrent pregnancy loss (RPRGL4) are caused by heterozygous mutation in the SYCP3 gene (604759) on chromosome 12q23.
Description
Azoospermia, a condition in which there are no sperm present in the ejaculate, has ... | SPERMATOGENIC FAILURE 4 | c0232981 | 899 | omim | https://www.omim.org/entry/270960 | 2019-09-22T16:22:13 | {"doid": ["0070176"], "mesh": ["C536875"], "omim": ["270960"], "orphanet": ["399805"], "synonyms": ["AZOOSPERMIA DUE TO PERTURBATIONS OF MEIOSIS", "Alternative titles", "SPERMATOGENESIS ARREST", "AZOOSPERMIA WITH MATURATION ARREST"]} |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.