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A number sign (#) is used with this entry because of evidence that normophosphatemic familial tumoral calcinosis can be caused by mutation in the gene encoding the sterile alpha motif domain-containing-9 protein (SAMD9; 610456).
Clinical Features
Familial tumoral calcinosis (FTC) is an uncommon life-threatening... | TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL | c1864861 | 5,800 | omim | https://www.omim.org/entry/610455 | 2019-09-22T16:04:29 | {"doid": ["0080170"], "mesh": ["C566473"], "omim": ["610455"], "orphanet": ["306658", "53715"], "synonyms": ["Alternative titles", "CALCINOSIS, TUMORAL, WITH NORMOPHOSPHATEMIA"]} |
Chromosome 16p13.3 deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a uniq... | Chromosome 16p13.3 deletion syndrome | c1864648 | 5,801 | gard | https://rarediseases.info.nih.gov/diseases/10754/chromosome-16p133-deletion-syndrome | 2021-01-18T18:01:25 | {"omim": ["610543"], "synonyms": ["16p13.3 deletion syndrome"]} |
A rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastroint... | 20q11.2 microdeletion syndrome | None | 5,802 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=444051 | 2021-01-23T19:09:59 | {"icd-10": ["Q93.5"], "synonyms": ["Del(20)(q11.2)", "Monosomy 20q11"]} |
A number sign (#) is used with this entry because Hermansky-Pudlak syndrome-1 (HPS1) is caused by homozygous or compound heterozygous mutation in the HPS1 gene (604982) on chromosome 10q24.
Description
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding,... | HERMANSKY-PUDLAK SYNDROME 1 | c0079504 | 5,803 | omim | https://www.omim.org/entry/203300 | 2019-09-22T16:31:25 | {"doid": ["0060539"], "mesh": ["D022861"], "omim": ["203300"], "orphanet": ["79430", "231500"], "synonyms": ["Alternative titles", "ALBINISM WITH HEMORRHAGIC DIATHESIS AND PIGMENTED RETICULOENDOTHELIAL CELLS", "DELTA STORAGE POOL DISEASE"], "genereviews": ["NBK1287"]} |
Alopecia totalis (AT) is a condition characterized by the complete loss of hair on the scalp. It is an advanced form of alopecia areata a condition that causes round patches of hair loss. Although the exact cause of AT is unknown, it is thought to be an autoimmune condition in which the immune system mistakenly attac... | Alopecia totalis | c0263504 | 5,804 | gard | https://rarediseases.info.nih.gov/diseases/613/alopecia-totalis | 2021-01-18T18:02:11 | {"orphanet": ["700"], "synonyms": ["Loss of all scalp hair"]} |
The rare combination of muscle weakness with electrical myotonia but without clinical myotonia has been reported in acid maltase deficiency and in centronuclear myopathy. Juguilon et al. (1982) described 3 adult patients with profound selective muscle wasting and weakness, electrical myotonia, and unusual findings on... | MYOPATHY, GRANULOVACUOLAR LOBULAR, WITH ELECTRICAL MYOTONIA | c1850745 | 5,805 | omim | https://www.omim.org/entry/254950 | 2019-09-22T16:24:38 | {"mesh": ["C564974"], "omim": ["254950"]} |
Neuroendocrine tumor of the anal canal is an epithelial tumor of anal canal arising from enterochromaffin cells in the colorectal-type epithelium above the dentate line and in the anal transition zone. The tumors are slow growing and the majority of cases are diagnosed in later advanced stages. It may present with sy... | Neuroendocrine tumor of anal canal | None | 5,806 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100082 | 2021-01-23T18:14:17 | {"synonyms": ["NET of anal canal"]} |
Granulosa cell tumour
Other namesGranulosa-theca cell tumours or Folliculoma
Micrograph of a juvenile granulosa cell tumour with hyaline globules. H&E stain.
SpecialtyGynecologic oncology, obstetrics and gynaecology, oncology, endocrinology
Granulosa cell tumours are tumours that arise from granulosa cells... | Granulosa cell tumour | c0018206 | 5,807 | wikipedia | https://en.wikipedia.org/wiki/Granulosa_cell_tumour | 2021-01-18T18:57:00 | {"mesh": ["D006106"], "umls": ["C0018206", "C0334401"], "icd-9": ["183", "236.2"], "icd-10": ["C56"], "wikidata": ["Q612093"]} |
Neuroma cutis is a relatively rare type of neuroma, or tumor involving nervous tissue, in the skin.[1] There are three types of true neuromas of the skin and mucous membranes known to exist: traumatic neuromas, multiple mucosal neuromas, and solitary palisaded encapsulated neuromas.[2]
## See also[edit]
* Ski... | Neuroma cutis | c0346057 | 5,808 | wikipedia | https://en.wikipedia.org/wiki/Neuroma_cutis | 2021-01-18T18:49:16 | {"umls": ["C0346057"], "wikidata": ["Q16937037"]} |
Part of a series on
Psychology
* Outline
* History
* Subfields
Basic types
* Abnormal
* Behavioral genetics
* Biological
* Cognitive/Cognitivism
* Comparative
* Cross-cultural
* Cultural
* Differential
* Developmental
* Evolutionary
* Experimental
* Mathematical
* Ne... | Cognitive disorder | c0029227 | 5,809 | wikipedia | https://en.wikipedia.org/wiki/Cognitive_disorder | 2021-01-18T18:47:05 | {"mesh": ["D019965", "D003072"], "umls": ["C0029227"], "wikidata": ["Q3065932"]} |
Psychomotor retardation
Other namesPsychomotor impairment, motormental retardation, psychomotor slowing
SpecialtyPsychiatry
Psychomotor retardation involves a slowing-down of thought and a reduction of physical movements in an individual. Psychomotor retardation can cause a visible slowing of physical and em... | Psychomotor retardation | c0424230 | 5,810 | wikipedia | https://en.wikipedia.org/wiki/Psychomotor_retardation | 2021-01-18T18:44:52 | {"icd-9": ["308.2"], "wikidata": ["Q3064951"]} |
Very rare, incurable and fatal neurodegenerative disorder that was formerly common among the Fore people of Papua New Guinea. Kuru is a form of transmissible spongiform encephalopathy (TSE)
Not to be confused with Koro (medicine).
Kuru
A Fore child with advanced kuru. He is unable to walk or sit upright witho... | Kuru (disease) | c0022802 | 5,811 | wikipedia | https://en.wikipedia.org/wiki/Kuru_(disease) | 2021-01-18T18:32:10 | {"gard": ["7617"], "mesh": ["D007729"], "umls": ["C0022802"], "orphanet": ["454745"], "wikidata": ["Q274615"]} |
## Clinical Features
Neuhauser et al. (1977) described a brother and sister, with nonconsanguineous parents, who had severe mental retardation, spastic cerebral palsy, seizures, progressive or intermittent jaundice, and recurrent infections. They died at ages 3 and 4 years. One showed a small brain with almost ... | DYSMYELINATION WITH JAUNDICE | c1857143 | 5,812 | omim | https://www.omim.org/entry/224250 | 2019-09-22T16:28:28 | {"mesh": ["C565610"], "omim": ["224250"]} |
Orofaciodigital syndromes refers to numerous conditions in which the oral cavity (mouth, tongue, teeth, and jaw), facial structures (head, eyes, and nose), and digits (fingers and toes) may be formed differently. When changes happen to many different parts of the body, this is called a syndrome. The literature report... | Orofaciodigital syndromes | c0029294 | 5,813 | gard | https://rarediseases.info.nih.gov/diseases/10692/orofaciodigital-syndromes | 2021-01-18T17:58:33 | {"mesh": ["D009958"], "orphanet": ["140997"], "synonyms": ["Orofaciodigital syndrome", "Oral-facial-digital syndromes", "Oral facial digital syndromes", "OFD", "Oral-facial-digital syndrome"]} |
A number sign (#) is used with this entry because of evidence that Charcot-Marie-Tooth type 2B1 (CMT2B1) is caused by homozygous mutation in the lamin A/C gene (LMNA; 150330) on chromosome 1q22.
Description
Charcot-Marie-Tooth disease constitutes a clinically and genetically heterogeneous group of hereditary motor ... | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 | c1854154 | 5,814 | omim | https://www.omim.org/entry/605588 | 2019-09-22T16:11:10 | {"doid": ["0110156"], "mesh": ["C537990"], "omim": ["605588"], "orphanet": ["98856"], "synonyms": ["Alternative titles", "CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2B1", "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2B1", "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2B1"]} |
Frontometaphyseal dysplasia is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, Melnick-Needles syndr... | Frontometaphyseal dysplasia | c4281559 | 5,815 | medlineplus | https://medlineplus.gov/genetics/condition/frontometaphyseal-dysplasia/ | 2021-01-27T08:24:47 | {"gard": ["826"], "omim": ["305620"], "synonyms": []} |
Hepatic veno-occlusive disease
Other namesVeno-occlusive disease with immunodeficiency
Sinusoidal obstruction syndrome
SpecialtyGastroenterology
SymptomsWeight gain, tender enlargement of the liver, ascites, jaundice
Diagnostic methodLiver biopsy
Differential diagnosisBudd–Chiari syndrome
PreventionUrso... | Hepatic veno-occlusive disease | c0019156 | 5,816 | wikipedia | https://en.wikipedia.org/wiki/Hepatic_veno-occlusive_disease | 2021-01-18T18:37:01 | {"gard": ["13004"], "mesh": ["D006504"], "umls": ["C0019156"], "icd-10": ["K76.5"], "orphanet": ["890"], "wikidata": ["Q5731687"]} |
A vaccine-associated sarcoma (VAS) or feline injection-site sarcoma (FISS) is a type of malignant tumor found in cats (and often, dogs and ferrets) which has been linked to certain vaccines. VAS has become a concern for veterinarians and cat owners alike and has resulted in changes in recommended vaccine protocol... | Vaccine-associated sarcoma | None | 5,817 | wikipedia | https://en.wikipedia.org/wiki/Vaccine-associated_sarcoma | 2021-01-18T18:54:37 | {"wikidata": ["Q7907937"]} |
Fluid accumulation in the air spaces and parenchyma of the lungs tissue
Pulmonary edema
Other namesPulmonary oedema
Pulmonary edema with small pleural effusions on both sides.
SpecialtyCardiology, critical care medicine
Pulmonary edema is fluid accumulation in the tissue and air spaces of the lungs.[1] It... | Pulmonary edema | c0034063 | 5,818 | wikipedia | https://en.wikipedia.org/wiki/Pulmonary_edema | 2021-01-18T18:55:44 | {"mesh": ["D011654"], "umls": ["C0034063"], "icd-9": ["518.4", "514"], "wikidata": ["Q857667"]} |
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (abbreviated POIKTMP), is a disorder that affects many parts of the body, particularly the skin, muscles, lungs, and pancreas. Signs and symptoms vary among affected individuals.
People with POIKTMP have patchy changes i... | Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis | c3810325 | 5,819 | medlineplus | https://medlineplus.gov/genetics/condition/hereditary-fibrosing-poikiloderma-with-tendon-contractures-myopathy-and-pulmonary-fibrosis/ | 2021-01-27T08:25:01 | {"gard": ["13218"], "omim": ["615704"], "synonyms": []} |
Enterocutaneous fistula
SpecialtyGastroenterology
An enterocutaneous fistula (ECF) is an abnormal communication between the small or large bowel and the skin that allows the contents of the stomach or intestines to leak through an opening in the skin.[1]
## Contents
* 1 Causes
* 2 Diagnosis
* 2.1 Cla... | Enterocutaneous fistula | c0341318 | 5,820 | wikipedia | https://en.wikipedia.org/wiki/Enterocutaneous_fistula | 2021-01-18T18:54:26 | {"mesh": ["D007412"], "umls": ["C0341318"], "wikidata": ["Q1344610"]} |
## Description
Pediatric trigger thumb is caused by a mismatch between the flexor pollicis longus tendon and its sheath. Patients present with a hard, palpable nodule (Notta's node) at the base of the metacarpal and an inability to extend the thumb beyond 30 degrees, which can rarely be accompanied by triggering, s... | TRIGGER THUMB | c0410060 | 5,821 | omim | https://www.omim.org/entry/190410 | 2019-09-22T16:32:23 | {"mesh": ["D052582"], "omim": ["190410"], "icd-10": ["M65.31"]} |
A rare, hereditary amyloidosis with primary renal involvement characterized by renal interstitial and medullary deposition of amyloid, low plasma levels of ApoA-1 and slow disease progression. Main clinical signs and symptoms are hypertension, proteinuria, hematuria and edema due to chronic renal insufficiency leadin... | AApoAI amyloidosis | None | 5,822 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93560 | 2021-01-23T19:04:44 | {"icd-10": ["E85.0"], "synonyms": ["Apolipoprotein A-I amyloidosis", "Familial amyloid nephropathy due to apolipoprotein A-I variant", "Familial renal amyloidosis due to apolipoprotein A-I variant", "Hereditary amyloid nephropathy due to apolipoprotein A-I variant", "Hereditary renal amyloidosis due to apolipoprotein A... |
Olivopontocerebellar atrophy-deafness syndrome is characterised by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases.
*[v]: View this te... | Olivopontocerebellar atrophy-deafness syndrome | None | 5,823 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2732 | 2021-01-23T18:12:53 | {"gard": ["4070"], "icd-10": ["Q04.8"], "synonyms": ["Olivopontocerebellar atrophy-hearing loss syndrome"]} |
A number sign (#) is used with this entry because this phenotype is associated with early embryonic postzygotic somatic activating mutations in the GNAS1 gene (139320).
Description
Activating or gain-of-function GNAS1 mutations in patients with the McCune-Albright syndrome are present in the mosaic state, resulting... | MCCUNE-ALBRIGHT SYNDROME | c0242292 | 5,824 | omim | https://www.omim.org/entry/174800 | 2019-09-22T16:36:01 | {"doid": ["1858"], "mesh": ["D005359"], "omim": ["174800"], "icd-9": ["756.54"], "icd-10": ["Q78.1"], "orphanet": ["562"], "synonyms": ["Alternative titles", "ALBRIGHT SYNDROME"], "genereviews": ["NBK274564"]} |
## Clinical Features
Stanescu et al. (1963) described 9 members of a kindred with an apparently 'new' syndrome. The features included a peculiar form of craniofacial dysostosis with small skull, thin cranial bone, depressions over the frontoparietal and occipitoparietal sutures, poorly developed mandible, and exoph... | CRANIOFACIAL DYSOSTOSIS WITH DIAPHYSEAL HYPERPLASIA | c0432263 | 5,825 | omim | https://www.omim.org/entry/122900 | 2019-09-22T16:42:46 | {"mesh": ["C562974"], "omim": ["122900"], "orphanet": ["1798"], "synonyms": ["Alternative titles", "OSTEOSCLEROSIS, STANESCU TYPE"]} |
Lichenoid eruption
SpecialtyDermatology
A lichenoid eruption is a skin disease characterized by damage and infiltration between the epidermis and dermis.[1]
Examples include lichen planus, lichen sclerosus and lichen nitidus. It can also be associated with abrasion or drug use.[2] It has been observed in conj... | Lichenoid eruption | c0162848 | 5,826 | wikipedia | https://en.wikipedia.org/wiki/Lichenoid_eruption | 2021-01-18T19:04:17 | {"mesh": ["D017512"], "icd-9": ["697"], "icd-10": ["L43"], "wikidata": ["Q6543234"]} |
A rare large granular lymphocyte leukemia characterized by persistent (> 6 months) natural killer cell lymphocytosis in the absence of clinical diagnosis of leukemia/lymphoma, autoimmune disease, or chronic viral infections. The clinical course is variable, but generally indolent. Patients often remain asymptomat... | Chronic lymphoproliferative disorder of natural killer cells | c1512709 | 5,827 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=512017 | 2021-01-23T17:52:46 | {"synonyms": ["CLPD-NK", "CNKL", "Chronic NK lymphocytosis", "Chronic NK-cell lymphocytosis", "Chronic lymphoproliferative disorder of NK-cells", "NK-cell lineage granular lymphocyte proliferative disorder"]} |
A number sign (#) is used with this entry because susceptibility to the development of atypical hemolytic uremic syndrome-1 (AHUS1) can be conferred by variation in the gene encoding complement factor H (CFH; 134370) on chromosome 1q31.
Deficiency of the CFH-related proteins CFHR1 (134371) and CFHR3 (605336) may be ... | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 | c2931788 | 5,828 | omim | https://www.omim.org/entry/235400 | 2019-09-22T16:27:10 | {"mesh": ["D065766"], "omim": ["235400"], "icd-10": ["D59.3"], "orphanet": ["90038", "93581", "2134", "544472"], "synonyms": ["Atypical HUS with anti-factor H antibodies", "Stx-HUS", "Shiga-like toxin-associated HUS", "Alternative titles", "Hemolytic-uremic syndrome without diarrhea with anti-factor H antibodies", "AHU... |
High bone mass osteogenesis imperfecta is a rare, genetic, primary bone dysplasia disorder characterized by increased bone fragility, manifesting with mutiple, childhood-onset, vertebral and peripheral fractures, associated with increased bone mass density on radiometric examination. Patients typically present normal... | High bone mass osteogenesis imperfecta | None | 5,829 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=314029 | 2021-01-23T17:40:40 | {"icd-10": ["Q78.0"], "synonyms": ["High bone mass OI"]} |
Plasminogen activator inhibitor type 1 (PAI1) deficiency is a rare bleeding disorder that causes excessive or prolonged bleeding due to blood clots being broken down too early. PAI1 is a protein in the body needed for normal blood clotting. When the body does not have enough functional PAI1, the body's ability keep b... | Plasminogen activator inhibitor type 1 deficiency | c2750067 | 5,830 | gard | https://rarediseases.info.nih.gov/diseases/4381/plasminogen-activator-inhibitor-type-1-deficiency | 2021-01-18T17:58:17 | {"mesh": ["C567640"], "omim": ["613329"], "orphanet": ["465"], "synonyms": ["Plasminogen activator inhibitor 1 deficiency", "PAI-1 deficiency", "Hyperfibrinolysis due to PAI1 deficiency", "PAI1 deficiency"]} |
Subungual exostosis
Other namesDupuytren subungual exostosis[1]
Subungual exostosis (1/3), in a boy of 15 years old
SpecialtyOrthopedic
Subungual exostoses are bony projections which arise from the dorsal surface of the distal phalanx, most commonly of the hallux (the big toe).[2]
## Contents
* 1 Prese... | Subungual exostosis | c0038604 | 5,831 | wikipedia | https://en.wikipedia.org/wiki/Subungual_exostosis | 2021-01-18T18:46:22 | {"gard": ["8280"], "mesh": ["C535723"], "umls": ["C0038604"], "wikidata": ["Q7632311"]} |
Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition.
## Epidemiology
MDS is undoubtedly a rare condition with a re... | Miller-Dieker syndrome | c0265219 | 5,832 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=531 | 2021-01-23T17:46:40 | {"gard": ["3669"], "mesh": ["D054221"], "omim": ["247200"], "umls": ["C0265219"], "icd-10": ["Q04.3"], "synonyms": ["Lissencephaly due to 17p13.3 deletion", "Monosomy 17p13.3", "Telomeric deletion 17p"]} |
Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI; see this term) and cone-rod retinal dystrophy (CORD; see this term).
## Epidemiology
It has been described in only one family with 29 affected individuals.
## Clinical description
AI is a generic term for an inherited group of den... | Jalili syndrome | c2931074 | 5,833 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1873 | 2021-01-23T18:34:13 | {"gard": ["1463"], "mesh": ["C535976"], "omim": ["217080"], "umls": ["C2931074", "C3495589"], "icd-10": ["H35.5"], "synonyms": ["Cone rod dystrophy-amelogenesis imperfecta syndrome"]} |
Ganglioglioma is a rare, usually benign, well-circumscribed, often cystic, mixed neuronal-glial tumor (composed of both neoplastic glial and ganglionic elements) which is typically located in the temporal lobe and rarely invades the surrounding tissue. Patients usually present with seizures refractory to medical trea... | Ganglioglioma | c0206716 | 5,834 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251949 | 2021-01-23T19:04:02 | {"gard": ["2430"], "mesh": ["D018303"], "umls": ["C0206716"]} |
## Description
Cloverleaf skull, or Kleeblattschaedel, consists of a trilobular skull with craniosynostosis. The condition shows pathogenetic variability and etiologic heterogeneity. The cause of isolated cloverleaf skull is unknown (Cohen, 2009).
Cohen (1975) pointed out that Kleeblattschaedel is a component of m... | KLEEBLATTSCHAEDEL | c1860050 | 5,835 | omim | https://www.omim.org/entry/148800 | 2019-09-22T16:39:18 | {"omim": ["148800"], "orphanet": ["2343"], "synonyms": ["Alternative titles", "KLEEBLATTSCHADEL", "CLOVERLEAF SKULL"]} |
## Clinical Features
Kozlowski et al. (1973) and Danks et al. (1974) reported 3 patients with precocious osteodysplasty, of whom 2 were sibs of Albanian extraction. All 3 died at less than 1 year of age. They suffered from a generalized disturbance of modeling of the long and tubular bones and pelvis with severe hy... | OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI | c1850185 | 5,836 | omim | https://www.omim.org/entry/259270 | 2019-09-22T16:23:53 | {"mesh": ["C564922"], "omim": ["259270"]} |
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This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropr... | Biotin deficiency | c0268680 | 5,837 | wikipedia | https://en.wikipedia.org/wiki/Biotin_deficiency | 2021-01-18T18:31:29 | {"mesh": ["C531633"], "icd-9": ["266.2"], "icd-10": ["E53.8"], "wikidata": ["Q10264745"]} |
A rare epidermal disease characterized by rough, dry skin with prominent, plate-like scaling. It is non-hereditary and usually arises during adulthood in the context of a variety of diseases or conditions, like various types of cancer, autoimmune diseases, endocrine disorders, nutritional deficiencies, but also a... | Acquired ichthyosis | c0263386 | 5,838 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=454 | 2021-01-23T18:49:16 | {"mesh": ["C538175"], "icd-10": ["L85.0"]} |
A rare genetic disorder of lipid metabolism characterized by neonatal to childhood onset of impaired absorption of dietary fat with greasy/oily and voluminous stools, but normal growth and development. Decreased levels of fecal elastase, as well as low serum levels of the fat-soluble vitamins A, D, and E, have been r... | Pancreatic triacylglycerol lipase deficiency | c0268240 | 5,839 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=309031 | 2021-01-23T17:59:56 | {"omim": ["614338"], "umls": ["C0268240"], "icd-10": ["K90.3"], "synonyms": ["Pancreatic triglyceride lipase deficiency"]} |
Hereditary motor and sensory neuropathy
Onion bulb formations in a nerve biopsy in a case of HMSN type I
SpecialtyNeurology
Hereditary motor and sensory neuropathies (HMSN) is a name sometimes given to a group of different neuropathies which are all characterized by their impact upon both afferent and effere... | Hereditary motor and sensory neuropathy | c0027888 | 5,840 | wikipedia | https://en.wikipedia.org/wiki/Hereditary_motor_and_sensory_neuropathy | 2021-01-18T18:50:32 | {"gard": ["6634"], "mesh": ["D015417"], "umls": ["C0027888"], "wikidata": ["Q15270307"]} |
Condition characterized by a loss of height of the nose, because of the collapse of the bridge
Saddle nose
Sketch of a saddle nose deformity
SpecialtyPlastic surgery
Saddle nose is a condition associated with nasal trauma, congenital syphilis, relapsing polychondritis, granulomatosis with polyangiitis, ... | Saddle nose | c0264169 | 5,841 | wikipedia | https://en.wikipedia.org/wiki/Saddle_nose | 2021-01-18T18:44:04 | {"icd-10": ["M95.0"], "wikidata": ["Q478112"]} |
Glucocorticoid remediable aldosteronism
Other namesGRA
SpecialtyEndocrinology
Glucocorticoid remediable aldosteronism also describable as aldosterone synthase hyperactivity, is an autosomal dominant disorder in which the increase in aldosterone secretion produced by ACTH is no longer transient.
It is a ... | Glucocorticoid remediable aldosteronism | c1260386 | 5,842 | wikipedia | https://en.wikipedia.org/wiki/Glucocorticoid_remediable_aldosteronism | 2021-01-18T19:07:58 | {"gard": ["2790"], "mesh": ["C563177"], "umls": ["C1260386"], "orphanet": ["403"], "wikidata": ["Q17149181"]} |
A number sign (#) is used with this entry because persistent mullerian duct syndrome (PMDS) is caused by heterozygous mutation in the gene encoding anti-mullerian hormone (AMH; 600957) or in the AMH receptor gene (AMHR; 600956). These 2 forms of persistent mullerian duct syndrome are referred to as type I and typ... | PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II | c1849930 | 5,843 | omim | https://www.omim.org/entry/261550 | 2019-09-22T16:23:33 | {"doid": ["0050791"], "mesh": ["C536665"], "omim": ["261550"], "orphanet": ["2856"], "synonyms": ["Alternative titles", "PSEUDOHERMAPHRODITISM, MALE INTERNAL", "HERNIA UTERI INGUINALE", "PERSISTENT OVIDUCT SYNDROME", "FEMALE GENITAL DUCTS IN OTHERWISE NORMAL MALE"]} |
Carcinoma of the gallbladder (GBC) is the most common and aggressive form of biliary tract cancer (BTC; see this term) usually arising in the fundus of the gallbladder, rapidly metastasizing to lymph nodes and distant sites.
## Epidemiology
Annual incidence rates vary from 1/100,000 to 1/ 4,350 between different et... | Carcinoma of gallbladder and extrahepatic biliary tract | c0153452 | 5,844 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=56044 | 2021-01-23T18:50:25 | {"mesh": ["D005706"], "umls": ["C0153452", "C0235782"], "synonyms": ["Carcinoma of gallbladder and EBT"]} |
Kraus (1951) was of the opinion that homozygosity of a gene is responsible for a pronounced tubercle, whereas the heterozygote shows slight grooves, pits, tubercles or bulge. He provided good pictures of the anomaly. Lee and Goose (1972) studied the inheritance of this and four other common dental traits, namely, sho... | CARABELLI ANOMALY OF MAXILLARY MOLAR TEETH | c1861897 | 5,845 | omim | https://www.omim.org/entry/114700 | 2019-09-22T16:43:43 | {"mesh": ["C566175"], "omim": ["114700"]} |
A number sign (#) is used with this entry because of evidence that combined oxidative phosphorylation deficiency-39 (COXPD39) is caused by homozygous or compound heterozygous mutation in the GFM2 gene (606544) on chromosome 5q13.
Description
Combined oxidative phosphorylation deficiency-39 (COXPD39) is an autosomal... | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 | None | 5,846 | omim | https://www.omim.org/entry/618397 | 2019-09-22T15:42:10 | {"omim": ["618397"]} |
Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy.
*[v]: View this template
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretrovira... | Cleft lip-retinopathy syndrome | c2931789 | 5,847 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1995 | 2021-01-23T17:35:39 | {"gard": ["435"], "mesh": ["C538272"], "umls": ["C2931789"], "icd-10": ["Q87.8"], "synonyms": ["Ausems-Wittebol Post-Hennekam syndrome", "Cleft lip-cone rod dystrophy syndrome", "Cleft lip-progressive retinopathy syndrome"]} |
A rare, hereditary nephrotic syndrome characterized by proteinuria, hypoalbuminemia, edema, and hyperlipidemia, with an absence of response to an initial trial of corticosteroids (i.e. steroid-resistant nephrotic syndrome; SRNS) and a generally complicated course.
## Epidemiology
The annual incidence is 1/ 200,000-... | Genetic steroid-resistant nephrotic syndrome | c1868672 | 5,848 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=656 | 2021-01-23T18:52:24 | {"gard": ["3946"], "mesh": ["C536404"], "omim": ["256370", "301028", "600995", "603278", "603965", "607832", "610725", "612551", "613237", "614131", "614196", "615244", "615573", "615861", "616002", "616032", "616220", "616730", "616892", "616893", "618176", "618177", "618178", "618179"], "umls": ["C1868672"], "icd-10"... |
A number sign (#) is used with this entry because of evidence that ectopia lentis et pupillae can be caused by homozygous or compound heterozygous mutation in the ADAMTSL4 gene (610113) on chromosome 1q21.
Autosomal recessive isolated ectopia lentis-2 (ECTO2; 225100) is also caused by mutation in the ADAMTSL4 gene.
... | ECTOPIA LENTIS ET PUPILLAE | c0013581 | 5,849 | omim | https://www.omim.org/entry/225200 | 2019-09-22T16:28:25 | {"mesh": ["D004479"], "omim": ["225200"], "orphanet": ["1885"], "synonyms": ["Alternative titles", "ECTOPIA LENTIS WITH ECTOPIA OF PUPIL"], "genereviews": ["NBK84111"]} |
Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes.
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*[c.]: circa
*[AA... | Hypertrichosis lanuginosa congenita | c0235864 | 5,850 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2222 | 2021-01-23T17:17:12 | {"gard": ["12754", "2865"], "mesh": ["C538389"], "omim": ["145700", "145701", "307150"], "umls": ["C0235864", "C2936812"], "icd-10": ["Q84.2"], "synonyms": ["Hypertrichosis universalis"]} |
## Clinical Features
An historically notable example is the Scipion family in which the malformation was transmitted for over two thousand years (Manoiloff, 1931). The thumb is replaced by one or two triphalangeal digits, which may or may not be opposable (Swanson and Brown, 1962). The feet, in some cases, show pre... | POLYDACTYLY, PREAXIAL III | c1868113 | 5,851 | omim | https://www.omim.org/entry/174600 | 2019-09-22T16:36:01 | {"mesh": ["C566784"], "omim": ["174600"], "orphanet": ["93337"], "synonyms": ["Alternative titles", "INDEX FINGER POLYDACTYLY"]} |
A number sign (#) is used with this entry because autosomal recessive nonsyndromic mental retardation-7 (MRT7) can be caused by homozygous mutation in the TUSC3 gene (601385) on chromosome 8p22.
Clinical Features
Garshasbi et al. (2008) reported a highly consanguineous Iranian kindred in which 7 individuals had non... | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 | c1970197 | 5,852 | omim | https://www.omim.org/entry/611093 | 2019-09-22T16:03:39 | {"doid": ["0060308"], "mesh": ["C567016"], "omim": ["611093"], "orphanet": ["88616"], "synonyms": ["MENTAL RETARDATION, AUTOSOMAL RECESSIVE 22", "Alternative titles", "NS-ARID", "AR-NSID"], "genereviews": ["NBK1332"]} |
Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.
## Epidemiology
Prevalence is... | Orofaciodigital syndrome type 6 | c2745997 | 5,853 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2754 | 2021-01-23T18:29:01 | {"gard": ["4412"], "mesh": ["C536531"], "omim": ["277170", "300804", "614815", "615665", "617127", "618763"], "umls": ["C2745997"], "icd-10": ["Q04.3"], "synonyms": ["Joubert syndrome with oral-facial-digital syndrome", "Joubert syndrome with orofaciodigital defect", "OFD6", "Oral-facial-digital syndrome type 6", "Poly... |
Horse with parrot mouth
Brachygnathism or colloquially parrot mouth, is the uneven alignment of the upper and lower teeth in animals. In serious cases, the upper teeth protrude beyond the lower teeth. Problem with parrot mouth occur if the molars at the back of the mouth are also uneven, resulting in large hooks for... | Brachygnathism | c1305740 | 5,854 | wikipedia | https://en.wikipedia.org/wiki/Brachygnathism | 2021-01-18T19:05:39 | {"mesh": ["D057887"], "wikidata": ["Q4953452"]} |
Dilated cardiomyopathy with ataxia (DCMA) syndrome is an inherited condition characterized by heart problems, movement difficulties, and other features affecting multiple body systems.
Beginning in infancy to early childhood, most people with DCMA syndrome develop dilated cardiomyopathy, which is a condition tha... | Dilated cardiomyopathy with ataxia syndrome | c1857776 | 5,855 | medlineplus | https://medlineplus.gov/genetics/condition/dilated-cardiomyopathy-with-ataxia-syndrome/ | 2021-01-27T08:25:38 | {"gard": ["12964"], "mesh": ["C565706"], "omim": ["610198"], "synonyms": []} |
## Clinical Features
Esser (1939) reported 4 affected sibs (2 males, 2 females) and an affected male first cousin. Boo-Chai (1965) described 3 cases in sibs of Asiatic Indian descent. A dominant form of bifid nose without hypertelorism (109740) has been proposed. Ocular hypertelorism (sometimes a dominant) is occas... | BIFID NOSE, AUTOSOMAL RECESSIVE | c0221363 | 5,856 | omim | https://www.omim.org/entry/210400 | 2019-09-22T16:30:27 | {"mesh": ["C535441"], "omim": ["210400"], "orphanet": ["2695"], "synonyms": ["Alternative titles", "MEDIAN FISSURE OF NOSE", "NOSE, MEDIAN CLEFT OF"]} |
Congenital fiber-type disproportion is a condition that primarily affects skeletal muscles, which are muscles used for movement. People with this condition typically experience muscle weakness (myopathy), particularly in the muscles of the shoulders, upper arms, hips, and thighs. Weakness can also affect the muscles ... | Congenital fiber-type disproportion | c0546264 | 5,857 | medlineplus | https://medlineplus.gov/genetics/condition/congenital-fiber-type-disproportion/ | 2021-01-27T08:24:49 | {"gard": ["6161"], "mesh": ["D020914"], "omim": ["255310"], "synonyms": []} |
Renal hypouricemia is a kidney (renal) disorder that results in a reduced amount of urate in the blood. Urate is a byproduct of certain normal chemical reactions in the body. In the bloodstream it acts as an antioxidant, protecting cells from the damaging effects of unstable molecules called free radicals. However, h... | Renal hypouricemia | c0473219 | 5,858 | medlineplus | https://medlineplus.gov/genetics/condition/renal-hypouricemia/ | 2021-01-27T08:25:03 | {"gard": ["9496"], "mesh": ["C537757"], "omim": ["220150", "612076"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that mitochondrial complex III deficiency nuclear type 3 (MC3DN3) is caused by homozygous mutation in the UQCRB gene (191330) on chromosome 8q22.
For a general phenotypic description and a discussion of genetic heterogeneity of mitochondrial complex III d... | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3 | c3554606 | 5,859 | omim | https://www.omim.org/entry/615158 | 2019-09-22T15:53:00 | {"doid": ["0080112"], "omim": ["615158"], "orphanet": ["1460"], "synonyms": ["Isolated CoQ-cytochrome C reductase deficiency", "Isolated coenzyme Q-cytochrome C reductase deficiency", "Isolated mitochondrial respiratory chain complex III deficiency", "Isolated ubiquinone-cytochrome C reductase deficiency"]} |
Chitayat et al. (1991) described a combination of mental retardation with distal arthrogryposis in 2 sisters, one of whom died of respiratory failure due to hypoplastic lungs shortly after birth. The chin showed a grooving like that seen in the Freeman-Sheldon syndrome (193700) but the patients did not have other fea... | ARTHROGRYPOSIS, DISTAL, WITH MENTAL RETARDATION AND CHARACTERISTIC FACIES | c1859723 | 5,860 | omim | https://www.omim.org/entry/208081 | 2019-09-22T16:30:51 | {"mesh": ["C565940"], "omim": ["208081"]} |
Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Pfeiffer syndrome also affects bones in the hands and feet.
Many of the characteristic facial... | Pfeiffer syndrome | c0220658 | 5,861 | medlineplus | https://medlineplus.gov/genetics/condition/pfeiffer-syndrome/ | 2021-01-27T08:24:52 | {"gard": ["7380"], "mesh": ["D000168"], "omim": ["101600"], "synonyms": []} |
Multinucleate cell angiohistiocytoma
SpecialtyDermatology
Multinucleate cell angiohistiocytoma is a cutaneous condition that presents as slowly growing, multiple, discrete but grouped, red to violaceous papules[1]
## See also[edit]
* Mast cell sarcoma
* List of cutaneous conditions
## References[edit]
... | Multinucleate cell angiohistiocytoma | c4049285 | 5,862 | wikipedia | https://en.wikipedia.org/wiki/Multinucleate_cell_angiohistiocytoma | 2021-01-18T18:30:39 | {"umls": ["C4049285"], "wikidata": ["Q6934824"]} |
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed.
Find sources: "Nonsyndromic deafness" – news · newspa... | Nonsyndromic deafness | c3711374 | 5,863 | wikipedia | https://en.wikipedia.org/wiki/Nonsyndromic_deafness | 2021-01-18T19:10:19 | {"gard": ["6410"], "mesh": ["C580334"], "icd-10": ["H90.5"], "orphanet": ["87884"], "synonyms": ["Isolated genetic deafness"], "wikidata": ["Q9079046"]} |
Porencephaly is a rare condition that affects the central nervous system. People with porencephaly develop fluid-filled cysts or cavities in the brain either before or shortly after birth. The severity of the condition and the associated signs and symptoms vary significantly based on the size, location, and numbe... | Porencephaly | c0302892 | 5,864 | gard | https://rarediseases.info.nih.gov/diseases/7430/porencephaly | 2021-01-18T17:58:14 | {"mesh": ["D065708"], "orphanet": ["2940"], "synonyms": []} |
Billard et al. (1989) described apparently monozygotic twins (their patients 13 and 14) who suffered from mild and nonprogressive mental retardation without motor deficit or visual disorders, but with moderate dysmorphia, craniosynostosis, and small stature due to growth hormone deficiency. CT scan showed dense calci... | ENCEPHALOPATHY WITH INTRACRANIAL CALCIFICATION, GROWTH HORMONE DEFICIENCY, MICROCEPHALY, AND RETINAL DEGENERATION | c1856973 | 5,865 | omim | https://www.omim.org/entry/225755 | 2019-09-22T16:28:15 | {"mesh": ["C565594"], "omim": ["225755"], "orphanet": ["1261"]} |
Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. Osteogenesis imperfecta type 1 is the mildest form of OI and is characterized by bone fractures during childhood and adolescence that often result from minor trauma. Fractures occur less frequently in adulthood. People with mil... | Osteogenesis imperfecta type I | c0023931 | 5,866 | gard | https://rarediseases.info.nih.gov/diseases/8694/osteogenesis-imperfecta-type-i | 2021-01-18T17:58:33 | {"mesh": ["D010013"], "omim": ["166200"], "umls": ["C0023931"], "orphanet": ["216796"], "synonyms": ["OI type 1", "Osteogenesis imperfecta tarda", "Osteogenesis imperfecta with blue sclerae", "Adair-Dighton syndrome", "Mild osteogenesis imperfecta", "Non-deforming osteogenesis imperfecta", "Van der Hoeve syndrome", "Cl... |
Malouf syndrome
Other namesDilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Malouf syndrome (also known as "congestive cardiomyopathy-hypergonadotropic hypogonadism syndrome") is a congenital disorder that causes one or more of the following symptoms: mental retardation, ovarian dysgenesis, conge... | Malouf syndrome | c0796083 | 5,867 | wikipedia | https://en.wikipedia.org/wiki/Malouf_syndrome | 2021-01-18T19:01:18 | {"mesh": ["C535580"], "umls": ["C0796083", "C0796031"], "orphanet": ["2229"], "wikidata": ["Q6744557"]} |
Autosomal recessive spastic paraplegia type 64 is an extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microceph... | Autosomal recessive spastic paraplegia type 64 | c3810289 | 5,868 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=401810 | 2021-01-23T17:00:54 | {"omim": ["615683"], "icd-10": ["G11.4"], "synonyms": ["SPG64"]} |
A number sign (#) is used with this entry because of evidence that multiple types of cataract (CTRCT39) are caused by heterozygous mutation in the CRYGB gene (123670) on chromosome 2q34.
Description
Mutations in the CRYGB gene have been found to cause multiple types of cataract, which have been described as lamella... | CATARACT 39, MULTIPLE TYPES | c3808800 | 5,869 | omim | https://www.omim.org/entry/615188 | 2019-09-22T15:52:58 | {"doid": ["0110236"], "omim": ["615188"], "icd-10": ["Q12.0"], "orphanet": ["91492"], "synonyms": []} |
A number sign (#) is used with this entry because rare germline mutations have been found in the MSR1 (153622), ASCC1 (614215), and CTHRC1 (610635) genes in patients with Barrett esophagus and/or esophageal adenocarcinoma.
Description
Barrett esophagus, or Barrett metaplasia, describes the phenotypic change of norm... | BARRETT ESOPHAGUS | c0279628 | 5,870 | omim | https://www.omim.org/entry/614266 | 2019-09-22T15:55:53 | {"doid": ["9206"], "mesh": ["C562730"], "omim": ["614266"], "icd-9": ["530.85"], "icd-10": ["K22.7", "K22.70"], "orphanet": ["99976"], "synonyms": ["Alternative titles", "BARRETT METAPLASIA"]} |
Eccrine carcinoma
Other namesSyringoid carcinoma
Eccrine carcinoma, alveolar type
SpecialtyDermatology
Eccrine carcinoma is a rare skin condition characterized by a plaque or nodule on the scalp, trunk, or extremities.[1]:669 It originates from the eccrine sweat glands of the skin, accounting for less than... | Eccrine carcinoma | c1302864 | 5,871 | wikipedia | https://en.wikipedia.org/wiki/Eccrine_carcinoma | 2021-01-18T18:36:18 | {"umls": ["C1302864"], "wikidata": ["Q5332314"]} |
Fragile XE syndrome (FRAXE) is a genetic condition associated with mild to borderline intellectual disabilities with physical features differing from person to person. The characteristic features are learning difficulties, often a consequence of communication problems (speech delay, poor writing skills), hyperact... | Fragile XE syndrome | c0751157 | 5,872 | gard | https://rarediseases.info.nih.gov/diseases/2378/fragile-xe-syndrome | 2021-01-18T18:00:26 | {"mesh": ["D005600"], "omim": ["309548"], "orphanet": ["100973"], "synonyms": ["X-linked mental retardation associated with fragile site FRAXE", "Fragile site, folic acid type", "Intellectual disability associated with fragile site FRAXE", "FRAXE syndrome"]} |
Gates (1946) cited a family in which the grandfather showed bilaterally a radial artery that passed over the supinator longus muscle 3 to 4 cm above the wrist and ran over the radial extensors above the styloid process. All his children were said to have the same anomaly on the left side. Among his grandchildren the ... | ARTERIES, ANOMALIES OF | c1876179 | 5,873 | omim | https://www.omim.org/entry/108000 | 2019-09-22T16:44:45 | {"omim": ["108000"]} |
Cronkhite-Canada syndrome is a rare gastrointestinal disorder characterized by widespread colon polyps, unhealthy looking (dystrophic) nails, hair loss (alopecia), darkening skin (such as on the hands, arms, neck and face), diarrhea, weight loss, stomach pain, and/or excess fluid accumulation in arms and legs (periph... | Cronkhite-Canada disease | c0282207 | 5,874 | gard | https://rarediseases.info.nih.gov/diseases/4427/cronkhite-canada-disease | 2021-01-18T18:01:02 | {"mesh": ["D044483"], "omim": ["175500"], "orphanet": ["2930"], "synonyms": ["Polyposis skin pigmentation alopecia fingernail changes"]} |
A rare acquired immunodeficiency disorder characterized by the appearance of susceptibility to disseminated opportunistic infections (in particular, disseminated nontuberculous mycobacterial infection, salmonellosis, penicillosis, and varicella zoster virus infection) in previously healthy (HIV-negative) adults, asso... | Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies | None | 5,875 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=306431 | 2021-01-23T18:52:48 | {"gard": ["11992"], "icd-10": ["D84.8"], "synonyms": ["Acquired adult-onset immunodeficiency", "Adult-onset immunodeficiency with acquired anti-interferon-gamma autoantibodies"]} |
For a phenotypic description and a discussion of genetic heterogeneity of familial thoracic aortic aneurysm, see 607086.
Mapping
Guo et al. (2001) reported a number of families with clear autosomal dominant inheritance of thoracic aneurysms and dissections. In 2 large families, linkage to FBN1 (134797) was excluded... | AORTIC ANEURYSM, FAMILIAL THORACIC 2 | c1846837 | 5,876 | omim | https://www.omim.org/entry/607087 | 2019-09-22T16:09:43 | {"doid": ["14004"], "mesh": ["C564627"], "omim": ["607087"], "orphanet": ["91387"], "synonyms": ["FAA2", "Alternative titles", "Familial TAAD"], "genereviews": ["NBK1120"]} |
## Clinical Features
Rotenstein et al. (1982) described a family in which 4 females in 3 successive generations shared the clinical triad of fever, hypertension, and juvenile polyarthritis, along with the pathologic feature of noncaseating granulomas in vascular and extravascular distribution. The proband was a 5-y... | ARTERITIS, FAMILIAL GRANULOMATOUS, WITH JUVENILE POLYARTHRITIS | c1862510 | 5,877 | omim | https://www.omim.org/entry/108050 | 2019-09-22T16:44:45 | {"mesh": ["C566253"], "omim": ["108050"]} |
For a phenotypic description and a discussion of genetic heterogeneity of absorptive hypercalciuria, see 143870.
Imamura et al. (1998) reported the cases of 2 unrelated girls with multiple malformations, each of whom had an unbalanced translocation chromosome with deletion of the 4q33-qter segment and addition of a ... | HYPERCALCIURIA, ABSORPTIVE, 1 | c0543800 | 5,878 | omim | https://www.omim.org/entry/607258 | 2019-09-22T16:09:28 | {"omim": ["607258"], "orphanet": ["2197"], "synonyms": ["Alternative titles", "HCA1"]} |
Not to be confused with polydipsia.
Dipsomania, an 18th-century woodcarving by Josef Stammel in the library of Admont Abbey.
Dipsomania is a historical term describing a medical condition involving an uncontrollable craving for alcohol. In the 19th century, the term dipsomania was used to refer to a variety of alco... | Dipsomania | c0001973 | 5,879 | wikipedia | https://en.wikipedia.org/wiki/Dipsomania | 2021-01-18T18:57:54 | {"mesh": ["D000437"], "wikidata": ["Q2717096"]} |
Coral dermatitis
SpecialtyDermatology
Coral dermatitis is a cutaneous condition caused by injury from the exoskeleton of certain corals.[1]:430
## See also[edit]
* Skin lesion
## References[edit]
1. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatol... | Coral dermatitis | c0413141 | 5,880 | wikipedia | https://en.wikipedia.org/wiki/Coral_dermatitis | 2021-01-18T18:28:24 | {"umls": ["C0413141"], "wikidata": ["Q5169523"]} |
A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-67 (RP67) is caused by homozygous mutation in the NEK2 gene (604043) on chromosome 1q32. One such family has been reported.
Description
Retinitis pigmentosa (RP) is the name given to a group of hereditary retinal conditions ... | RETINITIS PIGMENTOSA 67 | c0035334 | 5,881 | omim | https://www.omim.org/entry/615565 | 2019-09-22T15:51:37 | {"doid": ["0110359"], "mesh": ["D012174"], "omim": ["615565"], "orphanet": ["791"]} |
Allochiria
Allochiria is most frequently associated with a lesion of the right parietal lobe (in yellow, at top)
SpecialtyNeurology
Allochiria is a neurological disorder in which the patient responds to stimuli presented to one side of their body as if the stimuli had been presented at the opposite side.[1] ... | Allochiria | c0422885 | 5,882 | wikipedia | https://en.wikipedia.org/wiki/Allochiria | 2021-01-18T18:44:41 | {"mesh": ["D066190"], "umls": ["C0422885"], "wikidata": ["Q570126"]} |
A number sign (#) is used with this entry because of evidence that brachydactyly-syndactyly syndrome is caused by heterozygous mutation in the HOXD13 gene (142989) on chromosome 2q31. One such family has been reported.
Heterozygous mutation in HOXD13 can also cause brachydactyly and syndactyly in association with ol... | BRACHYDACTYLY-SYNDACTYLY SYNDROME | c1853137 | 5,883 | omim | https://www.omim.org/entry/610713 | 2019-09-22T16:04:11 | {"doid": ["0050689"], "mesh": ["C565193"], "omim": ["610713"], "orphanet": ["93409"], "synonyms": []} |
Serratia infection
SpecialtyInfectious disease
Serratia infection refers to a disease caused by a species in the genus Serratia.
The species involved is usually Serratia marcescens.
It can cause nosocomial infections.[1]
## References[edit]
1. ^ Hejazi A, Falkiner FR (November 1997). "Serratia marcescens... | Serratia infection | c0085394 | 5,884 | wikipedia | https://en.wikipedia.org/wiki/Serratia_infection | 2021-01-18T18:42:49 | {"mesh": ["D016868"], "wikidata": ["Q16935263"]} |
Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at ey... | Coloboma of superior eyelid | c1863872 | 5,885 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=155884 | 2021-01-23T17:20:39 | {"icd-10": ["Q10.3"], "synonyms": ["Superior palpebral coloboma"]} |
## Summary
### Clinical characteristics.
DYT-GNAL caused by a heterozygous GNAL pathogenic variant has been reported in more than 60 individuals to date. It is characterized by adult-onset isolated dystonia (i.e., no neurologic abnormalities other than tremor are evident on neurologic examination). The dystonia is ... | DYT-GNAL | c3554447 | 5,886 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK535640/ | 2021-01-18T21:31:14 | {"synonyms": ["DYT25", "GNAL-Related Dystonia"]} |
Clear-cell adenocarcinoma
SpecialtyOncology/gynecology
Clear-cell adenocarcinoma (CCA) of the vagina or cervix is a rare adenocarcinoma often linked to prenatal exposure to diethylstilbestrol (DES), a drug which was prescribed in high-risk pregnancy.
## Contents
* 1 Presentation
* 2 Diagnosis
* 3 Treat... | Clear-cell adenocarcinoma of the vagina | None | 5,887 | wikipedia | https://en.wikipedia.org/wiki/Clear-cell_adenocarcinoma_of_the_vagina | 2021-01-18T18:43:25 | {"wikidata": ["Q5130801"]} |
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classic 21-OHD CAH) affects the adrenal glands which are responsible for producing specific hormones. There are two types of classic 21-OHD CAH, the salt-wasting form and the simple-virilizing form. Symptoms include abnormal development of t... | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | c2936858 | 5,888 | gard | https://rarediseases.info.nih.gov/diseases/12665/classic-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency | 2021-01-18T18:01:17 | {"mesh": ["C535979"], "orphanet": ["90794"], "synonyms": ["Classic 21-OHD CAH"]} |
GRFoma is a type of pancreatic endocrine tumor (see this term) that hypersecretes growth hormone-releasing factor (GRF or GHRH) and that clinically resembles a pituitary adenoma (see this term) as patients present with acromegaly. In addition to the pancreas, this tumor can also occur in the lungs or small intestine,... | GRFoma | None | 5,889 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=97261 | 2021-01-23T18:00:47 | {"icd-10": ["E16.8"], "synonyms": ["GRF tumor", "Growth hormone releasing factor tumor"]} |
A rare benign follicular hamartoma that develops primarily on the face of adults, with a particular predilection for the back of the nose, but also on the neck or scalp. It presents as a solitary hemispheric flesh-colored nodule with a central pore or black dot that may contain a tuft of hair.
*[v]: View this temp... | Trichofolliculoma | c0334262 | 5,890 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=864 | 2021-01-23T17:22:25 | {"gard": ["5263"], "mesh": ["C536553"], "umls": ["C0334262"]} |
A rare, congenital disorder of glycosylation-related bone disorder characterized by hypotonia, severe developmental delay, intellectual disability, seizures, increased serum alkaline phosphatase, short distal phalanges with hypoplastic nails, and dysmorphic facial features. In some cases, cleft palate, megacolon, ano... | Hyperphosphatasia-intellectual disability syndrome | c1855923 | 5,891 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=247262 | 2021-01-23T18:33:53 | {"mesh": ["C565495"], "omim": ["239300", "614207", "614749", "615716", "616025", "616809"], "umls": ["C1855923"], "synonyms": ["Mabry syndrome"]} |
For a discussion of the genetic heterogeneity of quantitative trait loci (QTL) for mean platelet volume (MPV)/platelet count (PLT), see MPVCQTL1 (612573).
Mapping
Gieger et al. (2011) performed metaanalyses of genomewide association studies (GWAS) for MPV and PLT. Their analyses included 18,600 (13 studies, MPV) an... | MEAN PLATELET VOLUME/COUNT QUANTITATIVE TRAIT LOCUS 4 | c3553339 | 5,892 | omim | https://www.omim.org/entry/614644 | 2019-09-22T15:54:39 | {"omim": ["614644"]} |
Rare dental anomaly resulting in teeth having more than one cusp
Talon cusp
Other namesEagle's talon, dens evaginatus, interstitial cusp, tuberculated premolar, evaginated odontoma, supernumerary cusp[1]
Periapical radiograph of talon cusp on a partially erupted upper left permanent maxillary incisor in an 8 yea... | Talon cusp | c0399357 | 5,893 | wikipedia | https://en.wikipedia.org/wiki/Talon_cusp | 2021-01-18T18:40:42 | {"icd-9": ["520.2"], "icd-10": ["K00.2"], "wikidata": ["Q7680290"]} |
Monographella nivalis var. nivalis
Pink snow mold in a lawn in Brno Komín, Czech Republic
Scientific classification
Kingdom:
Fungi
Phylum:
Ascomycota
Class:
Sordariomycetes
Subclass:
Xylariomycetidae
Order:
Xylariales
Family:
Incertae sedis
Genus:
Monographella
Spec... | Fusarium patch | None | 5,894 | wikipedia | https://en.wikipedia.org/wiki/Fusarium_patch | 2021-01-18T18:39:49 | {"wikidata": ["Q7548416"]} |
Abortion in Finland is legal and free of charge under a broad range of circumstances. By international standards, political controversy is mild, and incidence is low.
## Contents
* 1 Legal framework
* 2 History
* 3 See also
* 4 References
## Legal framework[edit]
According to law, approval for an abor... | Abortion in Finland | None | 5,895 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_Finland | 2021-01-18T18:30:26 | {"wikidata": ["Q4668458"]} |
Hemoglobin E (HbE) disease is a mild, inherited blood disorder characterized by an abnormal form of hemoglobin, called hemoglobin E. People with this condition may have very mild anemia, but the condition typically does not cause any symptoms. It is inherited in an autosomal recessive manner and is caused by a mu... | Hemoglobin E disease | c0238159 | 5,896 | gard | https://rarediseases.info.nih.gov/diseases/2641/hemoglobin-e-disease | 2021-01-18T18:00:07 | {"umls": ["C0238159"], "orphanet": ["2133"], "synonyms": []} |
Dissociative or psychogenic nonepileptic seizures (PNES) are involuntary episodes of movement, sensation, or behaviors (vocalizations, crying, and other expressions of emotion) that do not result from abnormal brain discharges. The seizures can look like any kind of epileptic seizure. They are somatic manifestations ... | Dissociative seizures | c0349245 | 5,897 | gard | https://rarediseases.info.nih.gov/diseases/13028/dissociative-seizures | 2021-01-18T18:00:51 | {"synonyms": ["Psychogenic nonepileptic seizures", "Psychogenic seizures", "Pseudoseizures", "Functional seizures", "Non-epileptic attack disorder (NEAD)", "PNES"]} |
Dyskeratosis congenita
Other namesZinsser-Cole-Engman syndrome,[1][2]:570
Dyskeratosis congenital is inherited in an X-linked recessive manner
SpecialtyMedical genetics
Dyskeratosis congenita (DKC),also known as Zinsser-Engman-Cole syndrome, is a rare progressive congenital disorder with a highly variable ... | Dyskeratosis congenita | c0265965 | 5,898 | wikipedia | https://en.wikipedia.org/wiki/Dyskeratosis_congenita | 2021-01-18T18:59:31 | {"gard": ["10905"], "mesh": ["D019871"], "umls": ["C0265965"], "orphanet": ["1775"], "wikidata": ["Q3709312"]} |
Necrolytic migratory erythema
Other namesNME
Necrolytic migratory erythema in the gluteal area
SpecialtyDermatology
Necrolytic migratory erythema is a red, blistering rash that spreads across the skin. It particularly affects the skin around the mouth and distal extremities; but may also be found on th... | Necrolytic migratory erythema | c0221243 | 5,899 | wikipedia | https://en.wikipedia.org/wiki/Necrolytic_migratory_erythema | 2021-01-18T18:55:08 | {"mesh": ["D058568"], "umls": ["C0221243"], "wikidata": ["Q776790"]} |
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