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A rare, genetic, developmental defect with connective tissue involvement syndrome characterized by neonatal cutis laxa, marfanoid habitus with arachnodactyly, pulmonary emphysema, cardiac anomalies, and diaphragmatic hernia. Mild contractures of the elbows, hips, and knees, with bilateral hip dislocation may also be ... | Cutis laxa-Marfanoid syndrome | c0432335 | 7,600 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=171719 | 2021-01-23T16:55:07 | {"mesh": ["C563639"], "omim": ["614100"], "umls": ["C0432335"]} |
Hemoglobin (Hb) Zurich is an inherited blood disorder. People with Hb Zurich have an abnormal form of Hb, a red blood cell (RBC) protein that binds to oxygen in the lungs. This abnormal Hb more readily binds to carbon monoxide (producing carboxyhemoglobin or COHb). Normally the level of COHb is less than 1-2% in adul... | Hemoglobin Zurich | c3890418 | 7,601 | gard | https://rarediseases.info.nih.gov/diseases/10183/hemoglobin-zurich | 2021-01-18T18:00:06 | {"synonyms": ["Hb-Zurich"]} |
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This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be chall... | Autosomal dominant retinal vasculopathy with cerebral leukodystrophy | c1860518 | 7,602 | wikipedia | https://en.wikipedia.org/wiki/Autosomal_dominant_retinal_vasculopathy_with_cerebral_leukodystrophy | 2021-01-18T19:05:42 | {"gard": ["2558", "10535", "1217"], "mesh": ["C566007"], "umls": ["C1860518"], "orphanet": ["3421", "247691", "71291", "63261"], "wikidata": ["Q18209717"]} |
Blue cone monochromatism is an inherited vision disorder. In this condition, the light sensitive cells in the eye used for color vision (cones) are affected. There are three types of cones that respond to one of three colors: red, green, and blue. When people have blue cone monochromatism, both the red and green ... | Blue cone monochromatism | c0339537 | 7,603 | gard | https://rarediseases.info.nih.gov/diseases/917/blue-cone-monochromatism | 2021-01-18T18:01:45 | {"mesh": ["C536238"], "omim": ["303700"], "umls": ["C0339537"], "orphanet": ["16"], "synonyms": ["CBBM", "BCM", "Color blindness blue mono cone monochromatic type", "X-chromosome-linked achromatopsia", "Incomplete achromatopsia X-linked", "X-linked achromatopsia incomplete", "Achromatopsia incomplete X-linked"]} |
A number sign (#) is used with this entry because of evidence that focal cortical dysplasia type II (FCORD2) is caused by somatic mutation in the MTOR (601231), TSC1 (605284), or TSC2 (191092) genes.
Description
Focal cortical dysplasia type II (FCORD2), or focal cortical dysplasia of Taylor (FCDT), is a cerebral d... | FOCAL CORTICAL DYSPLASIA, TYPE II | c2938983 | 7,604 | omim | https://www.omim.org/entry/607341 | 2019-09-22T16:09:20 | {"omim": ["607341"], "orphanet": ["65683", "268994", "269008", "269001"], "synonyms": ["Alternative titles", "CORTICAL DYSPLASIA OF TAYLOR", "FOCAL CORTICAL DYSPLASIA OF TAYLOR", "FCD2"]} |
A number sign (#) is used with this entry because homocystinuria-megaloblastic anemia, cblE complementation type, is caused by homozygous or compound heterozygous mutation in the gene encoding methionine synthase reductase (MTRR; 602568) on chromosome 5p15.
Description
Homocystinuria and megaloblastic anemia is an ... | HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE | c1856057 | 7,605 | omim | https://www.omim.org/entry/236270 | 2019-09-22T16:27:04 | {"mesh": ["C565510"], "omim": ["236270"], "orphanet": ["2169", "622"], "synonyms": ["Alternative titles", "HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE", "VITAMIN B12-RESPONSIVE HOMOCYSTINURIA, cblE TYPE", "METHYLCOBALAMIN DEFICIENCY, cblE TYPE"], "genereviews": [... |
Placental villous immaturity
Other namesVillous immaturity, villous dysmaturity
Micrograph of villous immaturity. H&E stain.
SpecialtyGynecology, pathology
Placental villous immaturity is chorionic villous development that is inappropriate for the gestational age.
It is associated with diabetes mellitus[1... | Placental villous immaturity | None | 7,606 | wikipedia | https://en.wikipedia.org/wiki/Placental_villous_immaturity | 2021-01-18T18:50:00 | {"wikidata": ["Q7200300"]} |
In medicine, describing a disease as acute denotes that it is of short duration and, as a corollary of that, of recent onset. The quantification of how much time constitutes "short" and "recent" varies by disease and by context, but the core denotation of "acute" is always qualitatively in contrast with "chronic"... | Acute (medicine) | c0001314 | 7,607 | wikipedia | https://en.wikipedia.org/wiki/Acute_(medicine) | 2021-01-18T18:32:15 | {"mesh": ["D000208"], "umls": ["C0001314"], "wikidata": ["Q557429"]} |
Leber congenital amaurosis (LCA) is an eye disorder that primarily affects the retina. People with this condition typically have severe visual impairment beginning in infancy. Other features include photophobia, involuntary movements of the eyes (nystagmus), and extreme farsightedness. The pupils also do not reac... | Leber congenital amaurosis | c0339527 | 7,608 | gard | https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis | 2021-01-18T17:59:30 | {"mesh": ["D057130"], "umls": ["C0339527"], "orphanet": ["65"], "synonyms": ["LCA", "Congenital absence of the rods and cones", "Congenital retinal blindness", "Leber's amaurosis", "Leber's congenital tapetoretinal degeneration", "Leber's congenital tapetoretinal dysplasia", "Amaurosis congenita of Leber"]} |
4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertel... | 4p16.3 microduplication syndrome | c4512053 | 7,609 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=96072 | 2021-01-23T19:08:07 | {"icd-10": ["Q92.3"], "synonyms": ["Distal duplication 4p", "Distal trisomy 4p", "Telomeric duplication 4p", "Trisomy 4pter"]} |
Menstrual Cycle including Menstrual phase (often referred to as "period")
A menstrual disorder is characterized as any abnormal condition with regards to a woman's menstrual cycle. There are many different types of menstrual disorders that vary with signs and symptoms, including pain during menstruation, heavy bleed... | Menstrual disorder | c0025345 | 7,610 | wikipedia | https://en.wikipedia.org/wiki/Menstrual_disorder | 2021-01-18T18:35:10 | {"mesh": ["D008599"], "umls": ["C0025345"], "icd-9": ["626"], "icd-10": ["N91", "N95"], "wikidata": ["Q2137327"]} |
Proliferating trichilemmal tumor (PTT) is a benign tumor originating from the hair follicle. Although it is a benign tumor, PTT may be locally aggressive and in very rare cases the tumor may become malignant. In most cases there is only one lesion and occur in elderly women. The tumor is not painful but sometimes... | Proliferating trichilemmal cyst | c0345992 | 7,611 | gard | https://rarediseases.info.nih.gov/diseases/4509/proliferating-trichilemmal-cyst | 2021-01-18T17:58:07 | {"orphanet": ["492"], "synonyms": ["Proliferating pilar cyst"]} |
The human spleen is located in the upper left abdomen, behind the stomach
Spleen pain is a pain felt from the left upper quadrant of the abdomen or epigastrium where the human spleen is located or neighboring.[1]
## Contents
* 1 Etiology
* 1.1 Splenomegaly
* 1.2 Splenic infarction
* 1.3 Splenic absce... | Spleen pain | c0920154 | 7,612 | wikipedia | https://en.wikipedia.org/wiki/Spleen_pain | 2021-01-18T18:35:10 | {"umls": ["C0920154"], "wikidata": ["Q65078764"]} |
Birth defect of the spinal cord
Spina bifida
Illustration of a child with spina bifida
SpecialtyPediatrics, neurosurgery, rehabilitation medicine
SymptomsHairy patch, dimple, dark spot, swelling on the lower back[1]
ComplicationsPoor ability to walk, problems with bladder or bowel control, hydrocephalus,... | Spina bifida | c0080178 | 7,613 | wikipedia | https://en.wikipedia.org/wiki/Spina_bifida | 2021-01-18T19:07:02 | {"gard": ["7673"], "mesh": ["D016135"], "icd-9": ["741", "756.17"], "icd-10": ["Q05", "Q76.0"], "orphanet": ["823"], "wikidata": ["Q844717"]} |
Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics... | Cerebellar ataxia-hypogonadism syndrome | c1859305 | 7,614 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1173 | 2021-01-23T18:21:57 | {"gard": ["3314"], "mesh": ["C565870"], "omim": ["212840", "605672"], "umls": ["C1859305"], "icd-10": ["G11.8"], "synonyms": ["Gordon-Holmes syndrome", "Luteinizing hormone-releasing hormone deficiency with ataxia"]} |
A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dyslplasia. Patients typically present with leukocytosis... | Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) | None | 7,615 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=402020 | 2021-01-23T18:33:07 | {"gard": ["12759"], "icd-10": ["C92.0"], "synonyms": ["AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)"]} |
A number sign (#) is used with this entry because autosomal dominant late-onset retinal degeneration can be caused by heterozygous mutation in the C1QTNF5 gene (CTRP5; 608752) on chromosome 11q23.
Description
Late-onset retinal degeneration (LORD) is an autosomal dominant disorder characterized by onset in the fift... | LATE-ONSET RETINAL DEGENERATION | c1854065 | 7,616 | omim | https://www.omim.org/entry/605670 | 2019-09-22T16:11:08 | {"doid": ["0060869"], "mesh": ["C565309"], "omim": ["605670"], "orphanet": ["67042"], "synonyms": ["Alternative titles", "RETINAL DEGENERATION, LATE-ONSET, AUTOSOMAL DOMINANT"]} |
Some fruit juices and fruits can interact with numerous drugs, in many cases causing adverse effects.[1] The effect was first discovered accidentally, when a test of drug interactions with alcohol used grapefruit juice to hide the taste of the ethanol.[2]
The effect is most studied with grapefruit and grapefruit jui... | Grapefruit–drug interactions | None | 7,617 | wikipedia | https://en.wikipedia.org/wiki/Grapefruit%E2%80%93drug_interactions | 2021-01-18T19:07:17 | {"wikidata": ["Q5597010"]} |
A rare, genetic, non-severe combined immunodeficiency disorder characterized by variable B- and T-cell defects (including defective B-cell differentiation and impaired T-cell proliferation to mitogens and bacterial antigens) and natural killer cell dysfunction (ranging from impaired cytotoxity to lymphopenia) due to ... | Combined immunodeficiency due to IL21R deficiency | c3554687 | 7,618 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=357329 | 2021-01-23T17:18:41 | {"omim": ["615207"], "icd-10": ["D81.8"]} |
A rare ophthalmic disorder characterized by idiopathic orbital inflammation in which the specific target tissue is the optic nerve sheath. Patients typically present with ocular pain, pain on eye movement, visual symptoms with loss of vision progressing over several weeks, dyschromatopsia, and variable visual field d... | Idiopathic optic perineuritis | None | 7,619 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=499107 | 2021-01-23T18:15:51 | {"synonyms": ["Idiopathic OPN"]} |
## Description
NOTCH2NLR appears to be a nonfunctional pseudogene derived from a partial duplication of the NOTCH2 gene (600275) (Fiddes et al., 2018).
Cloning and Expression
Independently, Fiddes et al. (2018) and Suzuki et al. (2018) identified 4 NOTCH2 paralogs in the human genome resulting from segmental dupl... | NOTCH2 N-TERMINAL-LIKE R | None | 7,620 | omim | https://www.omim.org/entry/618026 | 2019-09-22T15:43:53 | {"omim": ["618026"], "synonyms": ["Alternative titles", "NOTCH2 N-TERMINAL-LIKE-RELATED, PSEUDOGENE"]} |
Hyperosmolar hyperglycemic state
Other namesHyperosmolar hyperglycemic nonketotic coma (HHNC), hyperosmolar non-ketotic coma (HONK), nonketotic hyperosmolar coma, hyperosmolar hyperglycemic nonketotic syndrome (HHNS)[1]
SpecialtyEndocrinology
SymptomsSigns of dehydration, altered level of consciousness[2]
Com... | Hyperosmolar hyperglycemic state | c0020457 | 7,621 | wikipedia | https://en.wikipedia.org/wiki/Hyperosmolar_hyperglycemic_state | 2021-01-18T18:28:29 | {"mesh": ["D006944"], "icd-9": ["250.2"], "icd-10": ["E11.0"], "wikidata": ["Q1828288"]} |
## Clinical Features
Lezirovitz et al. (2009) reported a large Brazilian family in which 12 members over 5 generations had nonsyndromic bilateral postlingual hearing loss. The hearing loss was initially mild and affected high frequencies in all patients, but became more severe and affected all frequencies with ... | DEAFNESS, AUTOSOMAL DOMINANT 58 | c3888210 | 7,622 | omim | https://www.omim.org/entry/615654 | 2019-09-22T15:51:21 | {"doid": ["0110582"], "omim": ["615654"], "orphanet": ["90635"], "synonyms": ["Autosomal dominant isolated neurosensory deafness type DFNA", "Autosomal dominant isolated neurosensory hearing loss type DFNA", "Autosomal dominant isolated sensorineural deafness type DFNA", "Autosomal dominant isolated sensorineural heari... |
Hereditary hyperekplexia is a condition in which affected infants have increased muscle tone (hypertonia) and an exaggerated startle reaction to unexpected stimuli, especially loud noises. Following the startle reaction, infants experience a brief period in which they are very rigid and unable to move. During these r... | Hereditary hyperekplexia | c4551954 | 7,623 | medlineplus | https://medlineplus.gov/genetics/condition/hereditary-hyperekplexia/ | 2021-01-27T08:25:16 | {"gard": ["3129"], "omim": ["149400", "614619", "614618"], "synonyms": []} |
A number sign (#) is used with this entry because Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome associated with a hemizygous deletion of chromosome 4p16.3.
Description
Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, develo... | WOLF-HIRSCHHORN SYNDROME | c1956097 | 7,624 | omim | https://www.omim.org/entry/194190 | 2019-09-22T16:31:45 | {"doid": ["0050460"], "mesh": ["D054877"], "omim": ["194190"], "icd-10": ["Q93.3"], "orphanet": ["98788", "280"], "synonyms": ["Alternative titles", "CHROMOSOME 4p16.3 DELETION SYNDROME", "PITT-ROGERS-DANKS SYNDROME", "PITT SYNDROME", "WITTWER SYNDROME"]} |
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. (October 2019)
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourc... | Paratenonitis | None | 7,625 | wikipedia | https://en.wikipedia.org/wiki/Paratenonitis | 2021-01-18T18:38:04 | {"wikidata": ["Q48968758"]} |
A number sign (#) is used with this entry because of evidence that congenital cataract-44 (CTRCT44) is caused by homozygous mutation in the LSS gene (600909) on chromosome 21q22.
Clinical Features
Zhao et al. (2015) identified 3 children with severe congenital cataract from a consanguineous 4-generation family ... | CATARACT 44 | c0266539 | 7,626 | omim | https://www.omim.org/entry/616509 | 2019-09-22T15:48:39 | {"doid": ["0110267"], "omim": ["616509"], "icd-10": ["Q12.0"], "orphanet": ["91492", "98994"], "synonyms": ["Alternative titles", "CATARACT 44 AND HYPOTRICHOSIS"]} |
A rare congenital tumor characterized by a benign cyst with epithelial and epidermoid components, originating from embryologic displacement and ectopic growth of ectodermal tissue in the central nervous system. In contrast to epidermoid cysts, dermoid cysts also contain dermis and skin appendages. Most common locatio... | Dermoid or epidermoid cyst of the central nervous system | None | 7,627 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=530033 | 2021-01-23T18:44:35 | {"synonyms": ["Dermoid or epidermoid cyst of the CNS"]} |
A number sign (#) is used with this entry because of identification of at least 1 polymorphism that renders HIV-infected men susceptible to Kaposi sarcoma; see 147620.0001.
See 614836 for information on a locus on chromosome 3p22 that is associated with susceptibility to infection by human herpesvirus-8, the etiolog... | KAPOSI SARCOMA, SUSCEPTIBILITY TO | c0017531 | 7,628 | omim | https://www.omim.org/entry/148000 | 2019-09-22T16:39:20 | {"mesh": ["D005871"], "omim": ["148000"], "orphanet": ["160", "33276", "93686"], "synonyms": ["Alternative titles", "MULTIPLE IDIOPATHIC PIGMENTED HEMANGIOSARCOMA, SUSCEPTIBILITY TO"]} |
A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated... | Port-wine nevi-mega cisterna magna-hydrocephalus syndrome | None | 7,629 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2703 | 2021-01-23T17:36:24 | {"gard": ["4014"], "synonyms": ["Nova syndrome"]} |
Osteogenesis imperfecta type III (OI type III) is a form of osteogenesis imperfecta, a group of genetic conditions that primarily affect the bones. In OI type III, specifically, a diagnosis can often be made shortly after birth as fractures (broken bones) during the newborn period simply from handling the infant are ... | Osteogenesis imperfecta type III | c0268362 | 7,630 | gard | https://rarediseases.info.nih.gov/diseases/8695/osteogenesis-imperfecta-type-iii | 2021-01-18T17:58:33 | {"mesh": ["C536044"], "omim": ["259420"], "umls": ["C0268362"], "orphanet": ["216812"], "synonyms": ["OI type 3", "Osteogenesis imperfecta, progressively deforming with normal sclerae", "OI type III", "Progressive deforming osteogenesis imperfecta", "Severe osteogenesis imperfecta", "Progressively deforming OI", "Osteo... |
"Verruca" redirects here. For other uses, see Veruca.
Plantar wart
Other namesVerruca myrmecia, verruca plantaris[1]
Close up image of a large plantar wart
SpecialtyDermatology, Podiatry
SymptomsSkin colored lesion, may be painful[2]
ComplicationsTrouble walking[2]
DurationTwo years[2]
CausesHuman papi... | Plantar wart | c0042548 | 7,631 | wikipedia | https://en.wikipedia.org/wiki/Plantar_wart | 2021-01-18T19:08:09 | {"umls": ["C0042548"], "wikidata": ["Q2251669"]} |
A number sign (#) is used with this entry because Scheie syndrome is caused by homozygous or compound heterozygous mutation in the gene encoding alpha-L-iduronidase (IDUA; 252800) on chromosome 4p16.
Description
The mucopolysaccharidoses are a group of inherited disorders caused by a lack of specific lysosomal ... | SCHEIE SYNDROME | c0023786 | 7,632 | omim | https://www.omim.org/entry/607016 | 2019-09-22T16:09:46 | {"doid": ["0060222"], "mesh": ["D008059"], "omim": ["607016"], "icd-10": ["E76.03"], "orphanet": ["93474", "579"], "synonyms": ["MUCOPOLYSACCHARIDOSIS TYPE IS", "MPS V, FORMERLY", "Mucopolysaccharidosis type 1S", "MPS1S", "Alternative titles", "MUCOPOLYSACCHARIDOSIS TYPE V, FORMERLY", "MPSIS", "Mucopolysaccharidosis ty... |
Branch retinal artery occlusion
Central retinal artery(at right)
SpecialtyOphthalmology
Branch retinal artery occlusion (BRAO) is a rare retinal vascular disorder in which one of the branches of the central retinal artery is obstructed.[1]
## Contents
* 1 Presentation
* 2 Risk factors
* 3 Diagnosis
... | Branch retinal artery occlusion | c0006123 | 7,633 | wikipedia | https://en.wikipedia.org/wiki/Branch_retinal_artery_occlusion | 2021-01-18T18:35:07 | {"mesh": ["D015356"], "umls": ["C0006123"], "wikidata": ["Q4956398"]} |
Charcot-Marie-Tooth disease type 1F (CMT1F) is a form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in t... | Charcot-Marie-Tooth disease type 1F | c1843164 | 7,634 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=101085 | 2021-01-23T18:12:04 | {"gard": ["9191"], "mesh": ["C537987"], "omim": ["607734"], "umls": ["C1843164"], "icd-10": ["G60.0"], "synonyms": ["CMT1F"]} |
Hemicrania continua (HC) is a type of primary headache disorder, which means the headache is not caused by another medical condition. Symptoms of HC include constant mild to moderate pain on one side of the head (unilateral) with periods of more intense, severe, migraine-like pain (exacerbations). These severe pain p... | Hemicrania continua | c2349425 | 7,635 | gard | https://rarediseases.info.nih.gov/diseases/10795/hemicrania-continua | 2021-01-18T18:00:08 | {"synonyms": []} |
A number sign (#) is used with this entry because of evidence that Meckel syndrome type 1 is caused by homozygous or compound heterozygous mutation in a gene encoding a component of the flagellar apparatus basal body proteome (MKS1; 609883) on chromosome 17q22.
Description
Meckel syndrome, also known as Meckel-Grub... | MECKEL SYNDROME, TYPE 1 | c0265215 | 7,636 | omim | https://www.omim.org/entry/249000 | 2019-09-22T16:25:31 | {"doid": ["0070115"], "omim": ["249000"], "orphanet": ["564"], "synonyms": ["Alternative titles", "MECKEL-GRUBER SYNDROME, TYPE 1", "MECKEL SYNDROME", "MES", "DYSENCEPHALIA SPLANCHNOCYSTICA", "GRUBER SYNDROME", "MECKEL-GRUBER SYNDROME"]} |
Aeromonas infections include skin infections such as cellulitis, pustules, and furuncles.[1]:279 Aeromonas species can also cause gastroenteritis.[2][3]
Aeromonas infections can sometimes be spread by leech bites.[4]
## See also[edit]
* Aeromonas
* Chromobacteriosis infection
* Skin lesion
## References[edi... | Aeromonas infection | c0851848 | 7,637 | wikipedia | https://en.wikipedia.org/wiki/Aeromonas_infection | 2021-01-18T18:39:12 | {"wikidata": ["Q4688334"]} |
Birthing obstruction complication
Shoulder dystocia
Suprapubic pressure being used in a shoulder dystocia
SpecialtyObstetrics
SymptomsRetraction of the babies head back into the vagina[1]
ComplicationsBaby: Brachial plexus injury, clavicle fracture[2]
Mother: Vaginal or perineal tears, postpartum bleed... | Shoulder dystocia | c0269825 | 7,638 | wikipedia | https://en.wikipedia.org/wiki/Shoulder_dystocia | 2021-01-18T18:44:48 | {"icd-9": ["660.4"], "icd-10": ["O66.0"], "wikidata": ["Q420240"]} |
A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and e... | Autosomal dominant limb-girdle muscular dystrophy type 1A | c1834659 | 7,639 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=266 | 2021-01-23T17:53:46 | {"gard": ["10229"], "mesh": ["C535906"], "omim": ["159000", "609200"], "umls": ["C1834659"], "icd-10": ["G71.0"], "synonyms": ["LGMD1A", "Limb-girdle muscular dystrophy due to myotilin deficiency"]} |
Carbon stain
SpecialtyDermatology
Carbon stains are a skin condition characterized by a discoloration of the skin from embedded carbon, usually occurring in children from accidents with firearms or firecrackers, or from a puncture wound by a pencil, which may leave a permanent black mark of embedded graphite, ... | Carbon stain | None | 7,640 | wikipedia | https://en.wikipedia.org/wiki/Carbon_stain | 2021-01-18T18:37:18 | {"wikidata": ["Q5037996"]} |
A number sign (#) is used with this entry because of evidence that autosomal dominant deafness-25 (DFNA25) is caused by heterozygous mutation in the SLC17A8 (607557) gene on chromosome 12q23.
Clinical Features
Greene et al. (2001) reported a large Czech family in which several members had a nonsyndromic, slowly... | DEAFNESS, AUTOSOMAL DOMINANT 25 | c1854158 | 7,641 | omim | https://www.omim.org/entry/605583 | 2019-09-22T16:11:21 | {"doid": ["0110555"], "mesh": ["C565319"], "omim": ["605583"], "orphanet": ["90635"], "synonyms": ["Autosomal dominant isolated neurosensory deafness type DFNA", "Autosomal dominant isolated neurosensory hearing loss type DFNA", "Autosomal dominant isolated sensorineural deafness type DFNA", "Autosomal dominant isolate... |
In 2016, the prevalence rate of HIV/AIDS in adults aged 15–49 was 0.3%, relatively low for a developing country.[1] This low prevalence has been maintained, as in 2006, the HIV prevalence in Mexico was estimated at around 0.3% as well. The infected population is remains mainly concentrated among high risk populations... | HIV/AIDS in Mexico | None | 7,642 | wikipedia | https://en.wikipedia.org/wiki/HIV/AIDS_in_Mexico | 2021-01-18T19:00:32 | {"wikidata": ["Q265760"]} |
Estradiol levels during the menstrual cycle.[1]
Catamenial epilepsy is a form of epilepsy in women where seizures are exacerbated during certain phases of the menstrual cycle. Seizures may rarely occur only during certain parts of the cycle, but are more commonly only more frequent. Catamenial epilepsy is underl... | Catamenial epilepsy | c0393718 | 7,643 | wikipedia | https://en.wikipedia.org/wiki/Catamenial_epilepsy | 2021-01-18T18:48:03 | {"umls": ["C0393718"], "wikidata": ["Q771950"]} |
Birth of a monstrosly defective child
A monstrous birth, variously defined in history, is a birth in which a defect of some sort renders the animal or human child monstrous. Such births were often taken as omens, signs of God, or moral warnings, but besides these supernatural or religious explanations, medical expla... | Monstrous birth | c2713367 | 7,644 | wikipedia | https://en.wikipedia.org/wiki/Monstrous_birth | 2021-01-18T18:45:40 | {"mesh": ["D009008"], "umls": ["C2713367", "C0026505"], "wikidata": ["Q6902961"]} |
17-beta-hydroxysteroid dehydrogenase isozyme 3 (17betaHSD III) deficiency is a rare disorder leading to male pseudohermaphroditism (MPH), a condition characterized by incomplete differentiation of the male genitalia in 46X,Y males.
## Epidemiology
The estimated incidence of this disease is 1 in 147 000 in The Nethe... | 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency | c0268296 | 7,645 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=752 | 2021-01-23T19:10:17 | {"gard": ["5659"], "mesh": ["C537805"], "omim": ["264300"], "umls": ["C0268296"], "icd-10": ["E29.1"], "synonyms": ["17-beta-hydroxysteroid dehydrogenase 3 deficiency", "17-ketoreductase deficiency", "17-ketosteroidreductase deficiency"]} |
Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects.
## Epidemiology
The syndrome has been described in a single Greek Cypriot family, over three generations. There ha... | Cyprus facial-neuromusculoskeletal syndrome | c1852396 | 7,646 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2674 | 2021-01-23T16:54:30 | {"gard": ["9487"], "mesh": ["C536229"], "omim": ["123853"], "umls": ["C1852396"], "icd-10": ["Q87.8"]} |
## Description
Chronic mountain sickness (CMS), or Monge disease, represents a state of maladaptation to high-altitude hypoxia in a member of a population acclimatized to high altitudes. CMS is characterized by severe polycythemia and an array of neurologic symptoms, including headache, fatigue, somnolence, and dep... | CHRONIC MOUNTAIN SICKNESS, SUSCEPTIBILITY TO | c0274294 | 7,647 | omim | https://www.omim.org/entry/616182 | 2019-09-22T15:49:43 | {"omim": ["616182"], "synonyms": ["Alternative titles", "MONGE DISEASE"]} |
A number sign (#) is used with this entry because of evidence that early infantile epileptic encephalopathy-68 (EIEE68) is caused by homozygous mutation in the TRAK1 gene (608112) on chromosome 3p25.
Description
EIEE68 is an autosomal recessive disorder characterized by onset of twitching and/or myoclonic jerks in ... | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 | None | 7,648 | omim | https://www.omim.org/entry/618201 | 2019-09-22T15:43:06 | {"omim": ["618201"], "orphanet": ["442835"], "synonyms": ["Undetermined EOEE"]} |
A rare inflammatory/autoimmune disorder of unknown origin characterized by interstitial keratitis (IK) and audiovestibular dysfunctions.
## Epidemiology
Cogan syndrome (CS) prevalence is unknown. To date, approximately 300 cases have been reported. The disease is primarily described in causasians patients with no g... | Cogan syndrome | c0271270 | 7,649 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1467 | 2021-01-23T17:23:35 | {"gard": ["1421"], "mesh": ["D055952"], "icd-10": ["H16.3"]} |
A number sign (#) is used with this entry because immunodeficiency-20 (IMD20) is caused by homozygous mutation in the FCGR3A gene (146740) on chromosome 1q23.
Description
Immunodeficiency-20 is a rare autosomal recessive primary immunodeficiency characterized by functional deficiency of NK cells. Patient NK cells a... | IMMUNODEFICIENCY 20 | c3810342 | 7,650 | omim | https://www.omim.org/entry/615707 | 2019-09-22T15:51:19 | {"omim": ["615707"], "orphanet": ["437552"], "synonyms": ["Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity", "CD16 deficiency"]} |
Overview of obesity in New Zealand
According to 2007 statistics from the World Health Organization (WHO), New Zealand has the second-highest prevalence of overweight adults in the English-speaking world.
Obesity in New Zealand has become an important national health concern in recent years, with high numbers of peo... | Obesity in New Zealand | None | 7,651 | wikipedia | https://en.wikipedia.org/wiki/Obesity_in_New_Zealand | 2021-01-18T19:08:11 | {"wikidata": ["Q7074861"]} |
Abnormal depolarizations of cardiac myocytes
Afterdepolarizations are abnormal depolarizations of cardiac myocytes that interrupt phase 2, phase 3, or phase 4 of the cardiac action potential in the electrical conduction system of the heart. Afterdepolarizations may lead to cardiac arrhythmias.
## Early afterdep... | Afterdepolarization | None | 7,652 | wikipedia | https://en.wikipedia.org/wiki/Afterdepolarization | 2021-01-18T19:05:43 | {"wikidata": ["Q2898697"]} |
Oculo-facio-cardio-dental syndrome (OFCD) is a very rare multiple congenital anomaly syndrome characterized by dental radiculomegaly, congenital cataract, facial dismorphism and congenital heart disease.
## Epidemiology
To date, 20 cases have been reported worldwide.
## Clinical description
The most consisten... | Oculofaciocardiodental syndrome | c1846265 | 7,653 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2712 | 2021-01-23T18:43:42 | {"gard": ["4628"], "mesh": ["C537465", "C537735"], "omim": ["300166"], "umls": ["C1846265", "C2931601"], "icd-10": ["Q87.8"], "synonyms": ["Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome", "OFCD syndrome"]} |
Keratitis-ichthyosis-deafness (KID) syndrome is a rare disorder that causes skin abnormalities, eye problems, and hearing loss. Skin abnormalities include thick, hard skin on the underside of the hands and feet (palmoplantar keratoderma); thick, red patches of skin (erythrokeratoderma); and dry, scaly skin (ichthyosi... | KID syndrome | c0265336 | 7,654 | gard | https://rarediseases.info.nih.gov/diseases/3113/kid-syndrome | 2021-01-18T17:59:36 | {"mesh": ["C536168"], "omim": ["148210"], "umls": ["C0265336"], "orphanet": ["477"], "synonyms": ["Keratitis-ichthyosis-deafness syndrome, autosomal dominant", "KID syndrome, autosomal dominant", "Keratitis, Ichthyosis, and Deafness (KID) Syndrome", "KID/HID syndrome", "Senter syndrome", "Keratitis-ichthyosis-deafness/... |
Intra-abdominal infection
SpecialtyGastroenterology
Intra-abdominal infection (IAI, also spelled intraabdominal) is a group of infections that occur within the abdominal cavity. They vary from appendicitis to fecal peritonitis.[1] Risk of death despite treatment is often high.[1]
## References[edit]
1. ^ a... | Intra-abdominal infection | c1112209 | 7,655 | wikipedia | https://en.wikipedia.org/wiki/Intra-abdominal_infection | 2021-01-18T18:31:04 | {"mesh": ["D059413"], "wikidata": ["Q30314067"]} |
A number sign (#) is used with this entry because classic Bartter syndrome type 3 (BARTS3) is caused by homozygous or compound heterozygous mutation in the kidney chloride channel B gene (CLCNKB; 602023) on chromosome 1p36.
Description
Bartter syndrome refers to a group of disorders that are unified by autosomal re... | BARTTER SYNDROME, TYPE 3 | c1846343 | 7,656 | omim | https://www.omim.org/entry/607364 | 2019-09-22T16:09:19 | {"doid": ["0110144"], "mesh": ["C537653"], "omim": ["607364"], "orphanet": ["93605", "112"], "synonyms": ["Alternative titles", "BARTTER SYNDROME, CLASSIC"]} |
GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations.
## Epidemiology
Type 1 is the most frequent form of GM1 gangliosidosis but the exact prevalence is not known. About 200 cases have been reported to date. Overall preva... | GM1 gangliosidosis type 1 | c1968748 | 7,657 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79255 | 2021-01-23T18:11:10 | {"gard": ["6479"], "mesh": ["C566895"], "omim": ["230500"], "icd-10": ["E75.1"], "synonyms": ["Infantile GM1 gangliosidosis", "Norman-Landing disease"]} |
This article is about the bacterial infection. For the Thoroughbred racehorse, see Thrush (racehorse).
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: "Thrush" horse –... | Thrush (horse) | None | 7,658 | wikipedia | https://en.wikipedia.org/wiki/Thrush_(horse) | 2021-01-18T18:43:22 | {"wikidata": ["Q2353089"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to age-related macular degeneration-12 (ARMD12) is conferred by mutation in the CX3CR1 gene (601470) on chromosome 3p22.
For a phenotypic description and a discussion of genetic heterogeneity of age-related macular degeneration (ARMD),... | MACULAR DEGENERATION, AGE-RELATED, 12 | c3151079 | 7,659 | omim | https://www.omim.org/entry/613784 | 2019-09-22T15:57:32 | {"omim": ["613784"]} |
This article is about the ailment. For uses of the word splint, see Splint (disambiguation).
Splints is an ailment of the horse or pony, characterized by a hard, bony swelling, usually on the inside of a front leg, lying between the splint and cannon bone or on the splint bone itself. It may be "hot," meaning that i... | Splints | c0263941 | 7,660 | wikipedia | https://en.wikipedia.org/wiki/Splints | 2021-01-18T19:05:56 | {"wikidata": ["Q7578590"]} |
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Some of this article's listed sources may not be reliable. Please help this article by looking for better, more reliable sources. Unreliable citations may be chall... | Gerascophobia | None | 7,661 | wikipedia | https://en.wikipedia.org/wiki/Gerascophobia | 2021-01-18T19:09:04 | {"wikidata": ["Q5550344"]} |
Raspberry leaf spot
Causal agentsSphaerulina rubi
HostsRaspberry
EPPO CodeSPHNRU
Raspberry leaf spot
Scientific classification
Kingdom: Fungi
Division: Ascomycota
Class: Dothideomycetes
Order: Capnodiales
Family: Mycosphaerellaceae
Genus: Sphaerulina
Species:
S. rubi
Binomia... | Raspberry leaf spot | None | 7,662 | wikipedia | https://en.wikipedia.org/wiki/Raspberry_leaf_spot | 2021-01-18T18:42:20 | {"wikidata": ["Q16989017"]} |
Posterior polymorphous corneal dystrophy
Other namesOphthalmology
Appearance of the abnormal corneal endothelial cells that have become transformed into stratified squamous epithelium. Periodic acid Schiff (PAS) stain
Posterior Polymorphous Corneal Dystrophy (PPCD; sometimes also Schlichting dystrophy) ... | Posterior polymorphous corneal dystrophy | c0339284 | 7,663 | wikipedia | https://en.wikipedia.org/wiki/Posterior_polymorphous_corneal_dystrophy | 2021-01-18T18:30:52 | {"mesh": ["C562745"], "umls": ["C0339284"], "orphanet": ["98973"], "wikidata": ["Q4183965"]} |
A rare primary bone dysplasia characterized, radiologically, by short, stubby long bones, severely angulated femurs and lesser bowing of other long bones (mild, moderate or no bowing), short and wide illiac wings with horizontal acetabular roofs, platyspondyly and a narrow thorax, clinically manifesting with seve... | Kyphomelic dysplasia | c0432239 | 7,664 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1801 | 2021-01-23T18:18:08 | {"gard": ["10149"], "mesh": ["C538128"], "omim": ["211350"], "umls": ["C0432239"]} |
This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia.
## Epidemiology
So far, around nine families have been described in the literature, together with a few sporadic cases.
## Clinical description
Onset occurs between 1 and 5 years of age with sp... | Mutilating hereditary sensory neuropathy with spastic paraplegia | c1850395 | 7,665 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=139578 | 2021-01-23T17:00:40 | {"mesh": ["C564948"], "omim": ["256840"], "umls": ["C1850395"], "icd-10": ["G60.8"], "synonyms": ["Mutilating HSAN with spastic paraplegia"]} |
Rumination disorder is the backward flow of recently eaten food from the stomach to the mouth. The food is then re-chewed and swallowed or spat out. A non-purposeful contraction of stomach muscles is involved in rumination. It may be initially triggered by a viral illness, emotional distress, or physical injury. In m... | Rumination disorder | c0154575 | 7,666 | gard | https://rarediseases.info.nih.gov/diseases/7594/rumination-disorder | 2021-01-18T17:57:51 | {"mesh": ["D019959"], "umls": ["C0154575"], "synonyms": ["Rumination syndrome"]} |
A number sign (#) is used with this entry because it represents what has historically been considered a gene cluster on chromosome 5q31. The 22 tandemly arranged genes within this cluster, PCDHGA1 (606288), PCDHGA2 (606289), PCDHGA3 (606290), PCDHGA4 (606291), PCDHGA5 (606292), PCDHGA6 (606293), PCDHGA7 (606294), PCD... | PROTOCADHERIN-GAMMA GENE CLUSTER | None | 7,667 | omim | https://www.omim.org/entry/604968 | 2019-09-22T16:11:40 | {"omim": ["604968"], "synonyms": ["Alternative titles", "PCDH-GAMMA GENE CLUSTER"]} |
Trismus-pseudocamptodactyly syndrome (TPS) is a disorder of muscle development and function. It is characterized by short muscles and tendons resulting in limited range of motion of the hands, legs, and mouth. The most serious complications of the condition occur as a result of the limited mobility of the mouth (tris... | Trismus-pseudocamptodactyly syndrome | c0265226 | 7,668 | gard | https://rarediseases.info.nih.gov/diseases/2621/trismus-pseudocamptodactyly-syndrome | 2021-01-18T17:57:17 | {"mesh": ["C535857"], "omim": ["158300"], "umls": ["C0265226"], "orphanet": ["3377"], "synonyms": ["Hecht syndrome", "Dutch-Kentucky syndrome", "Distal arthrogryposis type 7", "Arthrogryposis distal type 7"]} |
This article may be too technical for most readers to understand. Please help improve it to make it understandable to non-experts, without removing the technical details. (September 2015) (Learn how and when to remove this template message)
Status marmoratus is a congenital condition due to maldevelopment of the... | Status marmoratus | c0266487 | 7,669 | wikipedia | https://en.wikipedia.org/wiki/Status_marmoratus | 2021-01-18T18:47:03 | {"mesh": ["D009069"], "umls": ["C0266487"], "wikidata": ["Q7604531"]} |
Hearing loss caused by an inner ear or vestibulocochlear nerve defect
Sensorineural hearing loss
Cross section of the cochlea.
SpecialtyOtorhinolaryngology
Sensorineural hearing loss (SNHL) is a type of hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated s... | Sensorineural hearing loss | c0018784 | 7,670 | wikipedia | https://en.wikipedia.org/wiki/Sensorineural_hearing_loss | 2021-01-18T18:29:50 | {"mesh": ["D006319"], "umls": ["C0018784", "C0018780", "C0018776"], "wikidata": ["Q928697"]} |
A rare mitochondrial disease characterized by a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features, and skeletal abnormalities consistent with s... | Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | c4014942 | 7,671 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=436174 | 2021-01-23T19:01:12 | {"omim": ["616007"], "icd-10": ["Q87.8"], "synonyms": ["CAGSSS"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive deafness-32 with or without immotile sperm (DFNB32) is caused by homozygous mutation in the CDC14A gene (603504) on chromosome 1p21.
Description
DFNB32 is characterized by prelingual progressive moderate to profound sensorineural... | DEAFNESS, AUTOSOMAL RECESSIVE 32, WITH OR WITHOUT IMMOTILE SPERM | c1837608 | 7,672 | omim | https://www.omim.org/entry/608653 | 2019-09-22T16:07:24 | {"doid": ["0110491"], "mesh": ["C563884"], "omim": ["608653"], "orphanet": ["90636"], "synonyms": ["Autosomal recessive non-syndromic neurosensory deafness type DFNB", "Alternative titles", "DEAFNESS, AUTOSOMAL RECESSIVE 105, FORMERLY", "HEARING IMPAIRMENT INFERTILE MALE SYNDROME", "Autosomal recessive isolated sensori... |
Drug-induced urticaria
SpecialtyDermatology
Drug-induced urticaria occurs by immunologic and nonimmunologic mechanisms, urticaria most commonly caused by aspirin and NSAIDs.[1]:120
## See also[edit]
* List of cutaneous conditions
* Localized heat contact urticaria
* Skin lesion
## References[edit]
... | Drug-induced urticaria | c0263347 | 7,673 | wikipedia | https://en.wikipedia.org/wiki/Drug-induced_urticaria | 2021-01-18T18:50:31 | {"umls": ["C0263347"], "wikidata": ["Q5308825"]} |
A rare genetic central nervous system malformation characterized by dysplasia of the superior cerebellum (especially the vermis), brainstem asymmetry, dysplasia of the basal ganglia, and cortical irregularities with asymmetric abnormalities in gyral size and orientation, as well as varying sulcal depth, but witho... | Tubulinopathy-associated dysgyria | None | 7,674 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=467166 | 2021-01-23T18:37:19 | {"synonyms": ["Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome"]} |
Ocular neurosis is the usual cause of eye strain headache that begins abruptly with use of the eyes in which there is a normal ophthalmologic exam.[1]
ICD classification: F45.8 Neurosis ocular [2]
## References[edit]
1. ^ Ocular Lesion
2. ^ ICD-10 Neurosis
## External links[edit]
* Kaplan AH, Milder B (Oct... | Ocular neurosis | None | 7,675 | wikipedia | https://en.wikipedia.org/wiki/Ocular_neurosis | 2021-01-18T18:54:53 | {"icd-10": ["F45.8"], "wikidata": ["Q7077142"]} |
"Broken bones" redirects here. For other uses, see Broken Bones.
Bone fracture
Other namesbroken bone, bone break
Internal and external views of an arm with a compound fracture, both before and after surgery
SpecialtyOrthopedics
A bone fracture (abbreviated FRX or Fx, Fx, or #) is a medical condition ... | Bone fracture | c0016658 | 7,676 | wikipedia | https://en.wikipedia.org/wiki/Bone_fracture | 2021-01-18T18:35:17 | {"mesh": ["D050723"], "umls": ["C0016658"], "icd-9": ["829"], "icd-10": ["S72", "S62", "S02", "S52", "S22", "S12", "S42", "S92", "S32", "S82"], "wikidata": ["Q68833"]} |
A number sign (#) is used with this entry because of evidence that acrocapitofemoral dysplasia (ACFD) is caused by homozygous mutation in the IHH gene (600726) on chromosome 2q35.
Clinical Features
Mortier et al. (2003) described 4 patients from 2 consanguineous pedigrees, 1 Belgian and 1 Dutch, with a theretof... | ACROCAPITOFEMORAL DYSPLASIA | c1843096 | 7,677 | omim | https://www.omim.org/entry/607778 | 2019-09-22T16:08:45 | {"doid": ["0050604"], "mesh": ["C564334"], "omim": ["607778"], "orphanet": ["63446"]} |
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This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be chall... | Ruijs-Aalfs syndrome | c4015461 | 7,678 | wikipedia | https://en.wikipedia.org/wiki/Ruijs-Aalfs_syndrome | 2021-01-18T18:44:07 | {"umls": ["C4015461"], "orphanet": ["435953"], "wikidata": ["Q55784868"]} |
Bloody show is the passage of a small amount of blood or blood-tinged mucus through the vagina near the end of pregnancy. It is caused by the detachment of the cervical mucus plug that seals the cervix during pregnancy,[1] and is one of the signs that labor may be imminent.[2] Although the bloody show is a common and... | Bloody show | None | 7,679 | wikipedia | https://en.wikipedia.org/wiki/Bloody_show | 2021-01-18T19:00:42 | {"wikidata": ["Q184788"]} |
Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable ... | Jawad syndrome | c0796063 | 7,680 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=313795 | 2021-01-23T18:34:07 | {"mesh": ["C567101"], "omim": ["251255"], "umls": ["C0796063"]} |
In 4 male first cousins in 3 sibships connected through females, Christian et al. (1977) observed skeletal dysplasia, mental retardation, and abducens palsy. The skeletal abnormalities included short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypopl... | MENTAL RETARDATION, SKELETAL DYSPLASIA, AND ABDUCENS PALSY | c1839729 | 7,681 | omim | https://www.omim.org/entry/309620 | 2019-09-22T16:17:52 | {"mesh": ["C564101"], "omim": ["309620"], "orphanet": ["1436"], "synonyms": ["Christian syndrome", "Alternative titles", "CHRISTIAN SYNDROME"]} |
Cutaneous-skeletal hypophosphatemia syndrome (CSHS) is a rare condition that primarily affects the bones and skin. People with this condition have skeletal dysplasia and a variety of skin abnormalities such as epidermal nevi (an overgrowth of the top layer of skin) and moles. Other common features include hypophospha... | Cutaneous-skeletal hypophosphatemia syndrome | None | 7,682 | gard | https://rarediseases.info.nih.gov/diseases/12392/cutaneous-skeletal-hypophosphatemia-syndrome | 2021-01-18T18:01:00 | {"synonyms": []} |
A Rich focus is a tuberculous granuloma occurring within the cortex or meninges of the brain that ruptures into the subarachnoid space, causing tuberculous meningitis.[1] The Rich focus is named for Arnold Rice Rich, a pathologist at Johns Hopkins Hospital, who along with his colleague Howard McCordock first describe... | Rich focus | None | 7,683 | wikipedia | https://en.wikipedia.org/wiki/Rich_focus | 2021-01-18T18:55:38 | {"wikidata": ["Q7323489"]} |
FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leuchonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]:... | FLOTCH syndrome | c2931411 | 7,684 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2045 | 2021-01-23T18:16:33 | {"gard": ["2346"], "mesh": ["C537065"], "umls": ["C2931411"], "icd-10": ["L60.8"], "synonyms": ["Leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome"]} |
Karyomegalic interstitial nephritis is a rare, genetic renal disease characterized by slowly progressive, chronic, tubulointerstitial nephritis, leading to end-stage renal disease before the age of 50 years, manifesting with mild proteinuria, glucosuria and, occasionally, urinary sediment abnormalities (mainly hematu... | Karyomegalic interstitial nephritis | c3553774 | 7,685 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=401996 | 2021-01-23T18:34:46 | {"gard": ["11003"], "omim": ["614817"], "icd-10": ["N11.8"], "synonyms": ["KIN", "Systemic karyomegaly"]} |
For a general phenotypic description and a discussion of genetic heterogeneity of the CFEOM3 phenotype, see CFEOM3A (600638).
Cytogenetics
Aubourg et al. (2005) reported a 3-generation family with a phenotype consistent with autosomal dominant CFEOM3 cosegregating with a balanced/unbalanced reciprocal translocation... | FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3C | c1302995 | 7,686 | omim | https://www.omim.org/entry/609384 | 2019-09-22T16:06:05 | {"doid": ["0080143"], "mesh": ["C580012"], "omim": ["609384"], "orphanet": ["45358"], "synonyms": ["Alternative titles", "FEOM4 LOCUS"], "genereviews": ["NBK1348"]} |
A hernia—the hole in the light-colored wall of tissue—can trap loops of the bowel or other tissue.
Internal hernias occur when there is protrusion of an internal organ into a retroperitoneal fossa or a foramen (congenital or acquired) in the abdominal cavity. If a loop of bowel passes through the mesenteric defect, ... | Internal hernia | c0178282 | 7,687 | wikipedia | https://en.wikipedia.org/wiki/Internal_hernia | 2021-01-18T19:01:33 | {"mesh": ["D046449"], "umls": ["C0178282"], "wikidata": ["Q6047861"]} |
A rare genetic neurometabolic disease characterized by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic edema. Serum glutamine levels ... | Neonatal epileptic encephalopathy due to glutaminase deficiency | None | 7,688 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=557064 | 2021-01-23T18:18:34 | {"omim": ["618328"], "icd-10": ["G40.4"]} |
Non-herpetic acute limbic encephalitis is a rare neuroinflammatory/neuroautoimmune disease characterized by an acute (or subacute) onset of disturbance of consciousness (occasionally presenting as convulsions) and high fever, associated with cerebral lesions (on magnetic resonance imaging) that are restricted to the ... | Non-herpetic acute limbic encephalitis | c4707262 | 7,689 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=163924 | 2021-01-23T17:44:56 | {"icd-10": ["G04.8"]} |
## Clinical Features
Froster et al. (1996) described a 'possibly new' autosomal recessive syndrome in 4 successive fetuses (2 females; 2 males) from a healthy nonconsanguineous couple. Both prenatal and postnatal findings were reported. The spectrum of malformations included diaphragmatic defects, hypoplastic lungs... | DIAPHRAGMATIC DEFECTS, LIMB DEFICIENCIES, AND OSSIFICATION DEFECTS OF SKULL | c1832668 | 7,690 | omim | https://www.omim.org/entry/601163 | 2019-09-22T16:15:17 | {"mesh": ["C563380"], "omim": ["601163"], "orphanet": ["2141"], "synonyms": ["Alternative titles", "FROSTER SYNDROME"]} |
A rare and aggressive glial tumor of the central nervous system, that usually presents in adults with seizures, is most often located in the cerebral hemispheres and that is associated with a very poor prognosis.
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*[A... | Anaplastic oligoastrocytoma | c0431108 | 7,691 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251663 | 2021-01-23T17:39:19 | {"gard": ["10637"], "umls": ["C0431108"], "icd-10": ["C71.9"], "synonyms": ["aMOA"]} |
A rare maxillo-facial surgical disease characterized by an inflammatory, granulomatous lesion, most commonly of iatrogenic origin due to interaction of extravasated erythrocytes with exogenous lipids, in particular petrolatum-based antibiotic ointment used after surgical procedures. Most frequent locations are the pa... | Myospherulosis | c0027123 | 7,692 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=306553 | 2021-01-23T17:00:48 | {"umls": ["C0027123"], "synonyms": ["Spherulocytosis", "Subcutaneous spherulocystic disease"]} |
Drug-induced autoimmune heamolytic anemia
SpecialtyHematology
Drug-induced autoimmune hemolytic anemia is a form of hemolytic anemia.
In some cases, a drug can cause the immune system to mistakenly think the body's own red blood cells are dangerous, foreign substances. Antibodies then develop against the red ... | Drug-induced autoimmune hemolytic anemia | c0391817 | 7,693 | wikipedia | https://en.wikipedia.org/wiki/Drug-induced_autoimmune_hemolytic_anemia | 2021-01-18T19:08:47 | {"umls": ["C0391817"], "icd-9": ["283"], "icd-10": ["D59.0"], "orphanet": ["90037"], "wikidata": ["Q5308809"]} |
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This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be c... | Overactive disorder associated with mental retardation and stereotyped movements | c0349330 | 7,694 | wikipedia | https://en.wikipedia.org/wiki/Overactive_disorder_associated_with_mental_retardation_and_stereotyped_movements | 2021-01-18T18:34:24 | {"umls": ["C0349330", "C3263955"], "icd-10": ["F84.4"], "wikidata": ["Q9385429"]} |
Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.
## Epidemiology
The syndrome is extremely rare and only four cases have been reported in the literature so far.
... | Growth delay due to insulin-like growth factor type 1 deficiency | c1837475 | 7,695 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=73272 | 2021-01-23T18:09:43 | {"gard": ["10627"], "mesh": ["C563867"], "omim": ["608747"], "umls": ["C1837475"], "icd-10": ["E34.3"], "synonyms": ["Growth delay-deafness-intellectual disability syndrome", "Growth delay-hearing loss-intellectual disability syndrome", "IGF-1 deficiency", "Primary insulin-like growth factor deficiency"]} |
A rare chronic infectious disorder in which almost all organ systems can be invaded by the rod-shaped bacterium Tropheryma whipplei (TW).
## Epidemiology
The annual incidence in Central European countries is estimated to be approximately 1/1,000,000.
## Clinical description
The disease may occur at any age with d... | Whipple disease | c0023788 | 7,696 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3452 | 2021-01-23T17:33:58 | {"gard": ["7889"], "mesh": ["C531849", "D008061"], "umls": ["C0023788", "C2930851"], "icd-10": ["K90.8+", "M14.8*"], "synonyms": ["Intestinal lipodystrophy"]} |
A number sign (#) is used with this entry because of evidence that fibrochondrogenesis-2 (FBCG2) can be caused by homozygous or heterozygous mutation in the COL11A2 gene (120290) on chromosome 6p21.3.
Description
Fibrochondrogenesis is a severe skeletal dysplasia characterized by a flat midface, short long bones, s... | FIBROCHONDROGENESIS 2 | c0265282 | 7,697 | omim | https://www.omim.org/entry/614524 | 2019-09-22T15:54:54 | {"doid": ["0060465"], "mesh": ["C562524"], "omim": ["614524"], "orphanet": ["2021"]} |
COACH syndrome is a condition that mainly affects the brain and liver. Most individuals with COACH syndrome have intellectual disability, liver problems (fibrosis), and difficulty with movement (ataxia). Some may also have an abnormality of the eye (called a coloboma) or abnormal eye movements (such as nystagmus). Th... | COACH syndrome | c1857662 | 7,698 | gard | https://rarediseases.info.nih.gov/diseases/1410/coach-syndrome | 2021-01-18T18:01:16 | {"mesh": ["C536430"], "omim": ["216360"], "umls": ["C1857662"], "orphanet": ["1454"], "synonyms": ["Cerebellar vermis hypo/aplasia, Oligophrenia, Ataxia congenital, Coloboma, and Hepatic fibrosis", "Joubert syndrome with congenital hepatic fibrosis", "Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma... |
A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-72 (RP72) is caused by homozygous mutation in the ZNF408 gene (616454) on chromosome 11p11.
Heterozygous mutation in the ZNF408 gene has been reported to cause exudative vitreoretinopathy (see EVR6, 616468).
For a general phenot... | RETINITIS PIGMENTOSA 72 | c0035334 | 7,699 | omim | https://www.omim.org/entry/616469 | 2019-09-22T15:48:51 | {"doid": ["0110395"], "mesh": ["D012174"], "omim": ["616469"], "orphanet": ["791"]} |
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