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Smoker's face describes the characteristic changes that happen to the faces of many people who smoke.[1][2] The general appearance is of accelerated ageing of the face, with a characteristic pattern of facial wrinkling and sallow coloration.
A summary of a study published by the National Institutes of Health found t... | Smoker's face | None | 5,000 | wikipedia | https://en.wikipedia.org/wiki/Smoker%27s_face | 2021-01-18T18:37:52 | {"wikidata": ["Q7545938"]} |
A number sign (#) is used with this entry because of evidence that Thauvin-Robinet-Faivre syndrome (TROFAS) is caused by homozygous mutation in the FIBP gene (608296) on chromosome 11q13.
Description
Thauvin-Robinet-Faivre syndrome is an autosomal recessive disorder characterized by generalized overgrowth, main... | THAUVIN-ROBINET-FAIVRE SYNDROME | c4310715 | 5,001 | omim | https://www.omim.org/entry/617107 | 2019-09-22T15:46:53 | {"omim": ["617107"], "orphanet": ["500095"], "synonyms": ["Thauvin-Robinet-Faivre syndrome"]} |
Ring chromosome 21 is a rare chromosome abnormality in which the ends of chromosome 21 join together to form a ring shape. Many people with ring chromosome 21 have normal development and are healthy, having been diagnosed after having chromosome testing due to infertility, multiple miscarriages, or a child with a ch... | Ring chromosome 21 | c2931422 | 5,002 | gard | https://rarediseases.info.nih.gov/diseases/6083/ring-chromosome-21 | 2021-01-18T17:57:53 | {"mesh": ["C537109"], "umls": ["C2931422"], "orphanet": ["1445"], "synonyms": ["Chromosome 21 ring", "Ring 21", "R21"]} |
Tooth disease
Regional odontodysplasia
Other namesOdontogenesis imperfecta
SpecialtyOral and maxillofacial surgery
Regional odontodysplasia is an uncommon developmental abnormality of teeth, usually localized to a certain area of the mouth. The condition is nonhereditary. There is no predilection for race, ... | Regional odontodysplasia | c0206554 | 5,003 | wikipedia | https://en.wikipedia.org/wiki/Regional_odontodysplasia | 2021-01-18T18:54:31 | {"mesh": ["D018126"], "icd-9": ["520.4"], "icd-10": ["K00.4"], "orphanet": ["83450"], "synonyms": ["Ghost teeth"], "wikidata": ["Q3349339"]} |
Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis.
## Epidemiology
Prevalence is unknown.
## Clinical description
The condition is often discovered incidentally during early childhood (during the sec... | Dysplasia of head of femur, Meyer type | None | 5,004 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=168621 | 2021-01-23T17:41:07 | {"icd-10": ["Q78.8"], "synonyms": ["Dysplasia epiphysealis capitis femoris", "Meyer dysplasia"]} |
Many types of sense loss occur due to a dysfunctional sensation process, whether it be ineffective receptors, nerve damage, or cerebral impairment. Unlike agnosia, these impairments are due to damages prior to the perception process.
## Contents
* 1 Vision loss
* 2 Hearing loss
* 3 Anosmia
* 4 Somatosensory... | Sensory loss | c0278134 | 5,005 | wikipedia | https://en.wikipedia.org/wiki/Sensory_loss | 2021-01-18T18:46:19 | {"wikidata": ["Q2289481"]} |
Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotyp... | Mucopolysaccharidosis type 1 | c0023786 | 5,006 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=579 | 2021-01-23T17:51:29 | {"gard": ["10335"], "mesh": ["D008059"], "omim": ["607014", "607015", "607016"], "umls": ["C0023786", "C2713321"], "icd-10": ["E76.0"], "synonyms": ["Alpha-L-iduronidase deficiency", "MPS1", "MPSI", "Mucopolysaccharidosis type I"]} |
A number sign (#) is used with this entry because of evidence that pontocerebellar hypoplasia type 2B (PCH2B) is caused by homozygous or compound heterozygous mutation in the TSEN2 gene (608753) on chromosome 3p25.
Additional forms of type 2 PCH, PCH2A (277470) and PCH2C (612390), are caused by mutations in the TSEN... | PONTOCEREBELLAR HYPOPLASIA, TYPE 2B | c2932714 | 5,007 | omim | https://www.omim.org/entry/612389 | 2019-09-22T16:01:34 | {"doid": ["0060268"], "mesh": ["C548070"], "omim": ["612389"], "orphanet": ["2524"]} |
Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle b... | Myopathy with hexagonally cross-linked tubular arrays | c4707259 | 5,008 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=171889 | 2021-01-23T16:59:04 | {"icd-10": ["G71.2"]} |
A number sign (#) is used with this entry because cerebral creatine deficiency syndrome-1 (CCDS1) is caused by mutation in the creatine transporter gene (SLC6A8; 300036) on chromosome Xq28.
Description
Cerebral creatine deficiency syndrome-1 is an X-linked disorder of creatine (Cr) transport characterized by mental... | CEREBRAL CREATINE DEFICIENCY SYNDROME 1 | c1845862 | 5,009 | omim | https://www.omim.org/entry/300352 | 2019-09-22T16:20:26 | {"doid": ["0050800"], "mesh": ["C535598"], "omim": ["300352"], "orphanet": ["52503"], "synonyms": ["Alternative titles", "CREATINE DEFICIENCY SYNDROME, X-LINKED", "CREATINE TRANSPORTER DEFECT", "MENTAL RETARDATION, X-LINKED, WITH SEIZURES, SHORT STATURE, AND MIDFACE HYPOPLASIA", "MENTAL RETARDATION, X-LINKED, WITH CREA... |
Rare genetic condition
Rubinstein–Taybi syndrome
Other namesBroad thumb-hallux syndrome or Rubinstein syndrome[1]
Child with Rubinstein–Taybi syndrome
SpecialtyMedical genetics
Rubinstein–Taybi syndrome (RTS), is a condition characterized by short stature, moderate to severe learning difficulties, distinc... | Rubinstein–Taybi syndrome | c0035934 | 5,010 | wikipedia | https://en.wikipedia.org/wiki/Rubinstein%E2%80%93Taybi_syndrome | 2021-01-18T19:09:50 | {"gard": ["7593"], "mesh": ["D012415"], "umls": ["C0035934"], "orphanet": ["783"], "wikidata": ["Q666980"]} |
Milroy disease is a condition that affects the normal function of the lymphatic system. The lymphatic system produces and transports fluids and immune cells throughout the body. Impaired transport with accumulation of lymph fluid can cause swelling (lymphedema). Individuals with Milroy disease typically have lymp... | Milroy disease | c1704423 | 5,011 | medlineplus | https://medlineplus.gov/genetics/condition/milroy-disease/ | 2021-01-27T08:25:01 | {"gard": ["7220"], "mesh": ["D008209"], "omim": ["153100"], "synonyms": []} |
A number sign (#) is used with this entry because congenital fiber-type disproportion (CFTD) can be caused by mutation in the ACTA1 (102610), SEPN1 (606210), or TPM3 (191030) genes.
Mutations in the SEPN1 gene also cause rigid spine muscular dystrophy (RSMD1; 602771), which shows clinical overlap with CFTD.
See als... | MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION | c0546264 | 5,012 | omim | https://www.omim.org/entry/255310 | 2019-09-22T16:24:39 | {"doid": ["0080102"], "mesh": ["D020914"], "omim": ["255310"], "icd-10": ["G71.2"], "orphanet": ["2020"], "synonyms": ["Alternative titles", "FIBER-TYPE DISPROPORTION MYOPATHY, CONGENITAL"]} |
Hypertrophic neuropathy of Dejerine-Sottas (Dejerine-Sottas syndrome) is a term sometimes used to describe a severe, early childhood form of Charcot-Marie-Tooth disease (sometimes called type 3) that is characterized by sensory loss with ataxia in the limbs furthest from the body and pes cavus with progression toward... | Hypertrophic neuropathy of Dejerine-Sottas | c0011195 | 5,013 | gard | https://rarediseases.info.nih.gov/diseases/9204/hypertrophic-neuropathy-of-dejerine-sottas | 2021-01-18T17:59:54 | {"mesh": ["D015417"], "omim": ["145900"], "orphanet": ["64748"], "synonyms": ["Dejerine-Sottas syndrome", "DSS", "Charcot-Marie-Tooth Disease, type 3", "CMT3", "Hereditary motor and sensory neuropathy 3", "HMSN3", "Dejerine-Sottas neuropathy", "DSN", "Charcot-Marie-Tooth disease type 3", "Hereditary motor and sensory n... |
Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness.
## Epidemiology
It is an extremely rare condition, with about 30 cases described in the literature.
## Diagnostic methods
The ca... | Symmetrical thalamic calcifications | None | 5,014 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1314 | 2021-01-23T18:53:28 | {"gard": ["5070"], "icd-10": ["G93.8"], "synonyms": ["Bilateral symmetrical thalamic gliosis"]} |
A number sign (#) is used with this entry because of evidence that Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1) is caused by heterozygous mutation in the SHOC2 gene (602775) on chromosome 10q25.
Description
Noonan syndrome-like disorder with loose anagen hair is characterized by facial features si... | NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1 | c3501846 | 5,015 | omim | https://www.omim.org/entry/607721 | 2019-09-22T16:08:46 | {"mesh": ["C564342"], "omim": ["607721"], "orphanet": ["2701"], "synonyms": ["Alternative titles", "NSLH", "TOSTI SYNDROME"]} |
Pretibial myxedema
Hands showing related condition thyroid acropachy and shins of someone with pretibial myxedema
SpecialtyEndocrinology
Pretibial myxedema (myxoedema (UK), also known as Graves' dermopathy, thyroid dermopathy,[1] Jadassohn-Dösseker disease or Myxoedema tuberosum) is an infiltrative dermopath... | Pretibial myxedema | c0033103 | 5,016 | wikipedia | https://en.wikipedia.org/wiki/Pretibial_myxedema | 2021-01-18T18:58:41 | {"umls": ["C0033103"], "icd-9": ["242.9"], "wikidata": ["Q3130277"]} |
A number sign (#) is used with this entry because remitting megalencephalic leukoencephalopathy with subcortical cysts-2B (MLC2B) is caused by heterozygous mutation in the HEPACAM gene (611642) on chromosome 11q24.
Description
Autosomal dominant remitting MLC2B is characterized by infantile-onset of macrocephal... | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION | c1858854 | 5,017 | omim | https://www.omim.org/entry/613926 | 2019-09-22T15:57:02 | {"doid": ["0080317"], "mesh": ["C536141"], "omim": ["613926"], "orphanet": ["2478", "210548"], "genereviews": ["NBK1535"]} |
Alström syndrome is a rare condition that affects many body systems. Many of the signs and symptoms of this condition begin in infancy or early childhood, although some appear later in life.
Alström syndrome is characterized by a progressive loss of vision and hearing, a form of heart disease that enlarges and weake... | Alström syndrome | c0268425 | 5,018 | medlineplus | https://medlineplus.gov/genetics/condition/alstrom-syndrome/ | 2021-01-27T08:24:37 | {"gard": ["5787"], "mesh": ["D056769"], "omim": ["203800"], "synonyms": []} |
Wiedemann–Steiner syndrome
Other namesHypertrichosis-short stature-facial dysmorphism-developmental delay syndrome[1]
Wiedemann–Steiner syndrome is a rare genetic disorder that causes developmental delay, unusual facial features, short stature, and reduction in muscle tone (hypotonia). All cases reported so fa... | Wiedemann–Steiner syndrome | c1854630 | 5,019 | wikipedia | https://en.wikipedia.org/wiki/Wiedemann%E2%80%93Steiner_syndrome | 2021-01-18T18:48:51 | {"gard": ["5565"], "mesh": ["C565358"], "umls": ["C1854630", "C2931294"], "orphanet": ["319182"], "wikidata": ["Q24975353"]} |
Primary mediastinal (thymic) large B cell lymphoma
Other namesMediastinal large B cell lymphoma, primary mediastinal large B-cell lymphoma (PMLBCL), mediastinal large B-cell lymphoma
SpecialtyHematology, oncology
Primary mediastinal (thymic) large B-cell lymphoma is a distinct type of diffuse large B-cell ly... | Primary mediastinal (thymic) large B cell lymphoma | c1292754 | 5,020 | wikipedia | https://en.wikipedia.org/wiki/Primary_mediastinal_(thymic)_large_B_cell_lymphoma | 2021-01-18T18:59:48 | {"umls": ["C1292754"], "wikidata": ["Q6806161"]} |
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. (April 2015)
HIV associated cardiomyopathy
SpecialtyCardiology
Heart problems are more common in people with HIV/AIDS. Those with left ventricu... | HIV associated cardiomyopathy | c2721728 | 5,021 | wikipedia | https://en.wikipedia.org/wiki/HIV_associated_cardiomyopathy | 2021-01-18T19:07:14 | {"umls": ["C2721728"], "wikidata": ["Q18210950"]} |
Omenn syndrome is an inherited disorder of the immune system (immunodeficiency). Omenn syndrome is one of several forms of severe combined immunodeficiency (SCID), a group of disorders that cause individuals to have virtually no immune protection from bacteria, viruses, and fungi. Individuals with SCID are prone to r... | Omenn syndrome | c2700553 | 5,022 | medlineplus | https://medlineplus.gov/genetics/condition/omenn-syndrome/ | 2021-01-27T08:24:58 | {"gard": ["8198"], "mesh": ["D016511"], "omim": ["603554"], "synonyms": []} |
A number sign (#) is used with this entry because spastic paraplegia-26 (SPG26) is caused by homozygous or compound heterozygous mutation in the B4GALNT1 gene (601873) on chromosome 12q13.
Description
SPG26 is an autosomal recessive form of complicated spastic paraplegia characterized by onset in the first 2 decade... | SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE | c1836632 | 5,023 | omim | https://www.omim.org/entry/609195 | 2019-09-22T16:06:33 | {"doid": ["0110777"], "mesh": ["C536862"], "omim": ["609195"], "orphanet": ["101006"]} |
RAPADILINO syndrome is a rare condition that involves many parts of the body. Bone development is especially affected, causing many of the characteristic features of the condition.
Most affected individuals have underdevelopment or absence of the bones in the forearms and the thumbs, which are known as radial ray ma... | RAPADILINO syndrome | c1849453 | 5,024 | medlineplus | https://medlineplus.gov/genetics/condition/rapadilino-syndrome/ | 2021-01-27T08:24:47 | {"gard": ["4637"], "mesh": ["C535288"], "omim": ["266280"], "synonyms": []} |
A number sign (#) is used with this entry because nephrotic syndrome type 1 (NPHS1), also known as Finnish congenital nephrosis, is caused by homozygous or compound heterozygous mutation in the gene encoding nephrin (NPHS1; 602716) on chromosome 19q13.
Description
The nephrotic syndrome is characterized clinically ... | NEPHROTIC SYNDROME, TYPE 1 | c0403399 | 5,025 | omim | https://www.omim.org/entry/256300 | 2019-09-22T16:24:25 | {"doid": ["0080390"], "mesh": ["C535761"], "omim": ["256300"], "orphanet": ["839"], "synonyms": ["Alternative titles", "FINNISH CONGENITAL NEPHROSIS", "NEPHROTIC SYNDROME, CONGENITAL"]} |
Further information: Malnutrition
This article is about the medical syndrome. For similar terms with different meanings, see Waste (disambiguation).
In medicine, wasting, also known as wasting syndrome, refers to the process by which a debilitating disease causes muscle and fat tissue to "waste" away. Wasting is so... | Wasting | c0043046 | 5,026 | wikipedia | https://en.wikipedia.org/wiki/Wasting | 2021-01-18T18:59:26 | {"mesh": ["D019282"], "wikidata": ["Q7972881"]} |
Pediculosis
Pediculus humanus capitis (♀)
SpecialtyInfectious disease
Pediculosis is an infestation of lice (blood-feeding ectoparasitic insects of the order Phthiraptera).[1][2] The condition can occur in almost any species of warm-blooded animal (i.e. mammals and birds), including humans.[1][2] Although pe... | Pediculosis | c0030756 | 5,027 | wikipedia | https://en.wikipedia.org/wiki/Pediculosis | 2021-01-18T18:51:44 | {"mesh": ["D010373"], "umls": ["C0030756"], "wikidata": ["Q1343674"]} |
McKittrick-Wheelock syndrome
SpecialtyGastroenterology
McKittrick-Wheelock syndrome is an uncommon syndrome caused by large, villous adenomas that secrete high quantities of electrolyte-rich mucin. This may lead to pre-renal acute kidney injury, secretory diarrhea, and dehydration. It is estimated that 2-3... | McKittrick-Wheelock syndrome | c0268028 | 5,028 | wikipedia | https://en.wikipedia.org/wiki/McKittrick-Wheelock_syndrome | 2021-01-18T18:44:05 | {"umls": ["C0268028"], "wikidata": ["Q42417222"]} |
Maturity-onset diabetes of the young (MODY) is a group of several conditions characterized by abnormally high blood sugar levels. These forms of diabetes typically begin before age 30, although they can occur later in life. In MODY, elevated blood sugar arises from reduced production of insulin, which is a hormone pr... | Maturity-onset diabetes of the young | c0342276 | 5,029 | medlineplus | https://medlineplus.gov/genetics/condition/maturity-onset-diabetes-of-the-young/ | 2021-01-27T08:24:56 | {"gard": ["3697"], "mesh": ["C562772"], "omim": ["606391", "125850", "125851", "600496", "137920"], "synonyms": []} |
Group B Streptococcal infection
Other namesGroup B streptococcal disease
Streptococcus agalactiae\- Gram stain
SpecialtyPediatrics
Group B streptococcal infection, also known as Group B streptococcal disease or just Group B strep,[1] is the infection caused by the bacterium Streptococcus agalactiae (S. aga... | Group B streptococcal infection | c2020625 | 5,030 | wikipedia | https://en.wikipedia.org/wiki/Group_B_streptococcal_infection | 2021-01-18T18:49:19 | {"mesh": ["D013290"], "umls": ["C2020625"], "icd-10": ["P36.0", "B95.1"], "wikidata": ["Q3500350"]} |
For a phenotypic description and a discussion of genetic heterogeneity of systemic lupus erythematosus (SLE), see 152700.
Pathogenesis
Relative deficiency of pentraxin proteins is implicated in the pathogenesis of SLE. The C-reactive protein (CRP; 123260) response is defective in patients with acute flares of d... | SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 14 | c2751054 | 5,031 | omim | https://www.omim.org/entry/613145 | 2019-09-22T15:59:34 | {"omim": ["613145"]} |
Interictal dysphoric disorder (IDD) is a mood disorder sometimes found in patients with epilepsy, at a prevalence rate of approximately 17%.[1] The most common symptom of IDD is intermittent dysphoric mood in between seizures. Interictal dysphoric disorder can often be treated with a combination of antidepressant and... | Interictal dysphoric disorder | None | 5,032 | wikipedia | https://en.wikipedia.org/wiki/Interictal_dysphoric_disorder | 2021-01-18T18:54:29 | {"wikidata": ["Q17142111"]} |
Equine infectious anemia virus
Virus classification
(unranked): Virus
Realm: Riboviria
Kingdom: Pararnavirae
Phylum: Artverviricota
Class: Revtraviricetes
Order: Ortervirales
Family: Retroviridae
Genus: Lentivirus
Species:
Equine infectious anemia virus
Equine infectious anemia or eq... | Equine infectious anemia | c0014661 | 5,033 | wikipedia | https://en.wikipedia.org/wiki/Equine_infectious_anemia | 2021-01-18T19:05:20 | {"mesh": ["D004859"], "wikidata": ["Q19000458"]} |
A number sign (#) is used with this entry because of evidence that odontochondrodysplasia (ODCD) is caused by compound heterozygous mutation in the TRIP11 gene (604505) on chromosome 14q32.
Description
Odontochondrodysplasia is characterized by mesomelic shortening of tubular bones, ligamentous laxity, and scol... | ODONTOCHONDRODYSPLASIA | c2745953 | 5,034 | omim | https://www.omim.org/entry/184260 | 2019-09-22T16:34:22 | {"mesh": ["C535792"], "omim": ["184260"], "orphanet": ["166272"], "synonyms": ["Alternative titles", "SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA", "GOLDBLATT SYNDROME"]} |
Congenital dyserythropoietic anemia type III
SpecialtyHematology
Congenital dyserythropoietic anemia type III (CDA III) is a rare autosomal dominant disorder characterized by macrocytic anemia, bone marrow erythroid hyperplasia and giant multinucleate erythroblasts.[1] New evidence suggests that this may be pa... | Congenital dyserythropoietic anemia type III | c0271934 | 5,035 | wikipedia | https://en.wikipedia.org/wiki/Congenital_dyserythropoietic_anemia_type_III | 2021-01-18T19:06:20 | {"mesh": ["D000742"], "icd-9": ["285.8"], "icd-10": ["D64.4"], "orphanet": ["98870"], "wikidata": ["Q5160425"]} |
Limb body wall complex (LBWC) is characterized by severe multiple congenital anomalies in the fetus with exencephaly/encephalocele, thoraco- and/or abdominoschisis (anterior body wall defects) and limb defects, with or without facial clefts.
## Epidemiology
Approximately 250 cases have been reported in the lite... | Limb body wall complex | c4274839 | 5,036 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2369 | 2021-01-23T18:43:57 | {"gard": ["3251"], "icd-10": ["Q87.8"], "synonyms": ["Body stalk anomaly", "LBWC syndrome"]} |
A number sign (#) is used with this entry because autosomal recessive deafness-48 (DFNB48) is caused by homozygous mutation in the CIB2 gene (605564) on chromosome 15q25.
Description
DFNB48 is an autosomal recessive form of deafness. Affected individuals have prelingual onset of severe to profound sensorineural hea... | DEAFNESS, AUTOSOMAL RECESSIVE 48 | c1836199 | 5,037 | omim | https://www.omim.org/entry/609439 | 2019-09-22T16:06:03 | {"doid": ["0110505"], "mesh": ["C563720"], "omim": ["609439"], "orphanet": ["90636"], "synonyms": ["Autosomal recessive isolated neurosensory deafness type DFNB", "Autosomal recessive isolated sensorineural deafness type DFNB", "Autosomal recessive non-syndromic neurosensory deafness type DFNB"]} |
## Clinical Features
In man, hair is commonly present on all the basal segments of the digits and invariably absent from all the terminal ones. On the middle segments, there is wide fluctuation with apparent familial and racial tendencies. Hair is present on the middle segment of the fingers more frequently than on... | MIDPHALANGEAL HAIR | c1834876 | 5,038 | omim | https://www.omim.org/entry/157200 | 2019-09-22T16:38:08 | {"mesh": ["C537471"], "omim": ["157200"], "synonyms": ["Alternative titles", "MIDDIGITAL HAIR"]} |
Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent r... | Imperforate oropharynx-costovertebral anomalies syndrome | None | 5,039 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2759 | 2021-01-23T17:58:56 | {"gard": ["2989"], "synonyms": ["Seghers syndrome"]} |
Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently question... | Blau syndrome | c1861303 | 5,040 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90340 | 2021-01-23T18:50:23 | {"gard": ["304"], "mesh": ["C538157"], "omim": ["186580"], "umls": ["C1861303"]} |
Disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize
Benign tumor
Normal epidermis and dermis with intradermal nevus, 10x-cropped
SpecialtyPathology
A benign tumor is a mass of cells (tumor) that lacks the ability to either invade neighboring t... | Benign tumor | c0086692 | 5,041 | wikipedia | https://en.wikipedia.org/wiki/Benign_tumor | 2021-01-18T18:44:53 | {"mesh": ["D009369"], "wikidata": ["Q1417240"]} |
A solitary neurofibroma (also known as a "Solitary nerve sheath tumor,"[1] and "Sporadic neurofibroma"[1]) may be 2 to 20mm in diameter, is soft, flaccid, and pinkish-white, and frequently this soft small tumor can be invaginated, as if through a ring in the skin by pressure with the finger, a maneuver called "bu... | Solitary neurofibroma | c0431123 | 5,042 | wikipedia | https://en.wikipedia.org/wiki/Solitary_neurofibroma | 2021-01-18T19:02:12 | {"umls": ["C0431123"], "wikidata": ["Q7558254"]} |
Hemolytic anemia
Other namesHaemolytic anaemia
SpecialtyHematology
Hemolytic anemia is a form of anemia due to hemolysis, the abnormal breakdown of red blood cells (RBCs), either in the blood vessels (intravascular hemolysis) or elsewhere in the human body (extravascular).[1] This most commonly occurs wi... | Hemolytic anemia | c0002878 | 5,043 | wikipedia | https://en.wikipedia.org/wiki/Hemolytic_anemia | 2021-01-18T18:40:56 | {"mesh": ["D000743"], "umls": ["C0002878"], "icd-9": ["283", "773", "282"], "orphanet": ["98363"], "wikidata": ["Q1145668"]} |
Intermittent claudication
Other namesVascular claudication, claudicatio intermittens
SpecialtyCardiology, vascular surgery
Intermittent claudication, also known as vascular claudication, is a symptom that describes muscle pain on mild exertion (ache, cramp, numbness or sense of fatigue),[1] classically i... | Intermittent claudication | c0021775 | 5,044 | wikipedia | https://en.wikipedia.org/wiki/Intermittent_claudication | 2021-01-18T18:52:33 | {"mesh": ["D007383"], "umls": ["C0021775"], "icd-9": ["440.21"], "wikidata": ["Q1097957"]} |
X-linked congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing in low light (night blindness). They also have other vision problems, including loss of sharp... | X-linked congenital stationary night blindness | c3495587 | 5,045 | medlineplus | https://medlineplus.gov/genetics/condition/x-linked-congenital-stationary-night-blindness/ | 2021-01-27T08:24:35 | {"gard": ["3995"], "mesh": ["C536122"], "omim": ["310500", "300071"], "synonyms": []} |
Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (brachycephaly resulting from craniosynostosis, frontal bossing, downslanting palpebral fissures, large and low-set ears, depre... | Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome | None | 5,046 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=314575 | 2021-01-23T17:41:29 | {} |
Microcytic anaemia
Microcytosis is the presence of red cells that are smaller than normal. Normal adult red cell has a diameter of 7.2 µm. Microcytes are common seen in with hypochromia in iron-deficiency anaemia, thalassaemia trait, congenital sideroblastic anaemia and sometimes in anaemia of chronic diseases.
S... | Microcytic anemia | c0085576 | 5,047 | wikipedia | https://en.wikipedia.org/wiki/Microcytic_anemia | 2021-01-18T19:09:34 | {"mesh": ["C562385"], "umls": ["C0085576"], "icd-10": ["D50.8"], "wikidata": ["Q3298999"]} |
Group of autosomal recessive genetic disorders that affect Finns much more frequently
A Finnish heritage disease is a genetic disease or disorder that is significantly more common in people whose ancestors were ethnic Finns, natives of Finland and Sweden (Meänmaa) and Russia (Karelia and Ingria). There are 36 ra... | Finnish heritage disease | None | 5,048 | wikipedia | https://en.wikipedia.org/wiki/Finnish_heritage_disease | 2021-01-18T18:44:46 | {"wikidata": ["Q2567857"]} |
Cattle dead from rinderpest in South Africa, 1896
In the 1890s, an epizootic of the rinderpest virus struck Africa, considered to be "the most devastating epidemic to hit southern Africa in the late nineteenth century".[1] It killed more than 5.2 million cattle south of the Zambezi,[2] as well as domestic oxen, shee... | 1890s African rinderpest epizootic | None | 5,049 | wikipedia | https://en.wikipedia.org/wiki/1890s_African_rinderpest_epizootic | 2021-01-18T18:33:33 | {"wikidata": ["Q16820343"]} |
Bosworth fracture
SpecialtyOrthopedic
The Bosworth fracture is a rare fracture of the distal fibula with an associated fixed posterior dislocation of the proximal fibular fragment which becomes trapped behind the posterior tibial tubercle. The injury is caused by severe external rotation of the ankle.[1] T... | Bosworth fracture | None | 5,050 | wikipedia | https://en.wikipedia.org/wiki/Bosworth_fracture | 2021-01-18T18:37:03 | {"wikidata": ["Q4948376"]} |
A number sign (#) is used with this entry because progressive myoclonic epilepsy-3 with or without intracellular inclusions (EPM3) is caused by homozygous or compound heterozygous mutation in the KCTD7 gene (611725) on chromosome 7q11.
Description
Mutations in the KCTD7 gene cause a severe neurodegenerative phe... | EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS | c2673257 | 5,051 | omim | https://www.omim.org/entry/611726 | 2019-09-22T16:02:54 | {"doid": ["891"], "mesh": ["C567095"], "omim": ["611726"], "orphanet": ["263516"], "synonyms": ["Alternative titles", "CEROID LIPOFUSCINOSIS, NEURONAL, 14"]} |
Symblepharon
Symblepharon in lower conjunciva caused by chemical eye burn
Differential diagnosistrachoma
A symblepharon is a partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball. It results either from disease (conjunctival sequelae of trachoma) or ... | Symblepharon | c0152454 | 5,052 | wikipedia | https://en.wikipedia.org/wiki/Symblepharon | 2021-01-18T18:35:59 | {"umls": ["C0152454"], "icd-10": ["H11.2"], "wikidata": ["Q2374415"]} |
Bain type of X-linked syndromic intellectual disability is a genetic syndrome characterized by developmental delay, intellectual disability, autism, hypotonia, and seizures. Other symptoms may include loss of acquired skills (developmental regression), behavioral problems, stiffness or tightness of the muscles (s... | Bain type of X-linked syndromic intellectual disability | c4310814 | 5,053 | gard | https://rarediseases.info.nih.gov/diseases/13442/bain-type-of-x-linked-syndromic-intellectual-disability | 2021-01-18T18:01:54 | {"omim": ["300986"], "synonyms": ["HNRNPH2 deficiency"]} |
## Summary
### Clinical characteristics.
X-linked myotubular myopathy (X-MTM), also known as myotubular myopathy (MTM), is characterized by muscle weakness that ranges from severe to mild.
Approximately 80% of affected males present with severe (classic) X-MTM characterized by polyhydramnios, decreased fetal movem... | X-Linked Myotubular Myopathy | c0410203 | 5,054 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1432/ | 2021-01-18T20:48:20 | {"mesh": ["D020914"], "synonyms": ["Myotubular Myopathy (MTM)", "XLCNM", "X-Linked Centronuclear Myopathy", "XLMTM"]} |
Form of acute myeloid leukemia
Acute myelomonocytic leukemia
SpecialtyHematology, oncology
Acute myelomonocytic leukemia (AMML) is a form of acute myeloid leukemia that involves a proliferation of CFU-GM myeloblasts and monoblasts. AMML occurs with a rapid increase amount in white blood cell count and is defi... | Acute myelomonocytic leukemia | c0023479 | 5,055 | wikipedia | https://en.wikipedia.org/wiki/Acute_myelomonocytic_leukemia | 2021-01-18T19:10:49 | {"gard": ["529"], "mesh": ["D015479"], "umls": ["C0023479"], "orphanet": ["517"], "wikidata": ["Q4677943"]} |
Idiopathic thrombocytopenic purpura (ITP) is a bleeding disorder characterized by too few platelets in the blood. This is because platelets are being destroyed by the immune system. Symptoms may include bruising, nosebleed or bleeding in the mouth, bleeding into the skin, and abnormally heavy menstruation. With t... | Idiopathic thrombocytopenic purpura | c0398650 | 5,056 | gard | https://rarediseases.info.nih.gov/diseases/5194/idiopathic-thrombocytopenic-purpura | 2021-01-18T17:59:49 | {"mesh": ["D016553"], "omim": ["188030"], "umls": ["C0043117"], "orphanet": ["3002"], "synonyms": ["ITP", "Autoimmune thrombocytopenic purpura", "Thrombocytopenic purpura autoimmune"]} |
A number sign (#) is used with this entry because of evidence that oculoauricular syndrome (OCACS) is caused by homozygous mutation in the HMX1 gene (142992) on chromosome 4p16.
Clinical Features
Franceschetti and Valerio (1945) described a 3-year-old Swiss girl who had bilateral mild microphthalmia with marked cor... | OCULOAURICULAR SYNDROME | c2677500 | 5,057 | omim | https://www.omim.org/entry/612109 | 2019-09-22T16:02:19 | {"doid": ["0060482"], "mesh": ["C567416"], "omim": ["612109"], "orphanet": ["157962"], "synonyms": ["SCHORDERET-MUNIER-FRANCESCHETTI SYNDROME", "Alternative titles", "MICROPHTHALMIA, MICROCORNEA, ANTERIOR SEGMENT DYSGENESIS, CATARACT, OCULAR COLOBOMA, RETINAL PIGMENT EPITHELIUM ABNORMALITIES, ROD-CONE DYSTROPHY, AND AN... |
A number sign (#) is used with this entry because SED congenita is caused by heterozygous mutation in the COL2A1 gene (120140) on chromosome 12q13.
Description
Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epi... | SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA | c2745959 | 5,058 | omim | https://www.omim.org/entry/183900 | 2019-09-22T16:34:25 | {"doid": ["14789"], "mesh": ["C535788"], "omim": ["183900"], "icd-10": ["Q77.7"], "orphanet": ["94068"], "synonyms": ["Alternative titles", "SED CONGENITA", "SPONDYLOEPIPHYSEAL DYSPLASIA, CONGENITAL TYPE"], "genereviews": ["NBK540447"]} |
A number sign (#) is used with this entry because of evidence that congenital hydrocephalus-3 with brain anomalies (HYC3) is caused by homozygous mutation in the WDR81 gene (614218) on chromosome 17p13.
For a discussion of genetic heterogeneity of congenital hydrocephalus, see 236600.
Clinical Features
Shaheen et ... | HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES | None | 5,059 | omim | https://www.omim.org/entry/617967 | 2019-09-22T15:44:12 | {"omim": ["617967"], "synonyms": ["Alternative titles", "HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 3, FORMERLY"]} |
A rare bacterial infectious disease most prominently characterized by a red, sandpaper-like rash, a strawberry-like tongue, and a flushed face with perioral pallor. Other clinical symptoms include pharyngitis, tonsillitis, fever, headaches, and swollen lymph nodes. Potential complications are sinusitis, pneumonia, rh... | Staphylococcal scarlet fever | None | 5,060 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=36235 | 2021-01-23T16:56:39 | {"icd-10": ["A38"]} |
Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.
## Epidemiology
HS is the most common cause of inherited chronic hemolysis in North America with a pre... | Hereditary spherocytosis | c0037889 | 5,061 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=822 | 2021-01-23T17:48:54 | {"gard": ["6639"], "mesh": ["C536356", "D013103"], "omim": ["182900", "270970", "612653", "612690", "616649"], "umls": ["C0037889", "C0221409"], "icd-10": ["D58.0"], "synonyms": ["Minkowski-Chauffard disease"]} |
STS-41 crewmembers conduct Detailed Supplementary Objective (DSO) 472, Intraocular Pressure on the middeck of Discovery, Orbiter Vehicle (OV) 103. Mission Specialist (MS) William M. Shepherd rests his head on the stowed treadmill while Pilot Robert D. Cabana, holding Shepherd's eye open, prepares to measure Shepherd'... | Visual impairment due to intracranial pressure | None | 5,062 | wikipedia | https://en.wikipedia.org/wiki/Visual_impairment_due_to_intracranial_pressure | 2021-01-18T19:06:44 | {"wikidata": ["Q17088850"]} |
The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or ... | Mitochondrial DNA depletion syndrome | c0342782 | 5,063 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=35698 | 2021-01-23T17:21:14 | {"umls": ["C0342782"], "synonyms": ["mtDNA depletion syndrome"]} |
Rare genetic disorder caused by part of the father's chromosome 15 being missing
Prader–Willi syndrome
Other namesLabhart–Willi syndrome, Prader's syndrome, Prader–Labhart–Willi-Fanconi syndrome[1]
Eight-year-old with Prader–Willi syndrome, exhibiting characteristic obesity[2]
Pronunciation
* /ˈprɑːdər ˈvɪl... | Prader–Willi syndrome | c0032897 | 5,064 | wikipedia | https://en.wikipedia.org/wiki/Prader%E2%80%93Willi_syndrome | 2021-01-18T19:05:07 | {"gard": ["5575"], "mesh": ["D011218"], "umls": ["C0032897"], "orphanet": ["739"], "wikidata": ["Q594013"]} |
Ledderhose disease is a type of plantar fibromatosis characterized by the growth of hard and round or flattened nodules (lumps) on the soles of the feet. It is generally seen in middle-aged and elderly people, and occurs in men about 10 times more often than in women. It typically affects both feet and progresses... | Ledderhose disease | c0158360 | 5,065 | gard | https://rarediseases.info.nih.gov/diseases/6873/ledderhose-disease | 2021-01-18T17:59:29 | {"mesh": ["D000071380"], "umls": ["C0158360"], "orphanet": ["199251"], "synonyms": ["Lederhose disease"]} |
Epidermal nevus syndrome
Other namesSolomon's syndrome
SpecialtyDermatology, medical genetics
Epidermal nevus syndrome (also known as "Feuerstein and Mims syndrome",[1][2] and "Solomon's syndrome"[1]:775[3]) is a rare disease that was first described in 1968 and consists of extensive epidermal nevi with abno... | Epidermal nevus syndrome | c0334082 | 5,066 | wikipedia | https://en.wikipedia.org/wiki/Epidermal_nevus_syndrome | 2021-01-18T19:10:32 | {"mesh": ["C580062"], "umls": ["C0334082"], "orphanet": ["35125"], "wikidata": ["Q5382842"]} |
Dysdiadochokinesia
Other namesDysdiadochokinesis, dysdiadokokinesia, dysdiadokokinesis
SpecialtyNeurology
Dysdiadochokinesia (DDK) is the medical term for an impaired ability to perform rapid, alternating movements (i.e., diadochokinesia). Complete inability is called adiadochokinesia. The term is from G... | Dysdiadochokinesia | c0234979 | 5,067 | wikipedia | https://en.wikipedia.org/wiki/Dysdiadochokinesia | 2021-01-18T18:57:46 | {"umls": ["C0234979"], "icd-9": ["781.3"], "icd-10": ["R27"], "wikidata": ["Q1280963"]} |
Group of genetic connective tissues disorders
Ehlers–Danlos syndromes
Individual with EDS displaying skin hyperelasticity
Pronunciation
* ey-lerz dan-los
SpecialtyMedical genetics, rheumatology
SymptomsOverly flexible joints, stretchy skin, abnormal scar formation[1]
ComplicationsAortic dissec... | Ehlers–Danlos syndromes | c0013720 | 5,068 | wikipedia | https://en.wikipedia.org/wiki/Ehlers%E2%80%93Danlos_syndromes | 2021-01-18T19:01:42 | {"gard": ["6322"], "mesh": ["D004535"], "umls": ["C0013720"], "orphanet": ["98249"], "wikidata": ["Q1141499"]} |
3M syndrome is a growth disorder that causes short stature, characteristic facial features, and skeletal abnormalities. Intelligence is normal. The name comes from the initials of three researchers who first identified it: Miller, McKusick, and Malvaux. 3M syndrome is caused by mutations in one of three genes: CU... | 3M syndrome | c1851996 | 5,069 | gard | https://rarediseases.info.nih.gov/diseases/5667/3m-syndrome | 2021-01-18T18:02:25 | {"mesh": ["C535725"], "orphanet": ["2616"], "synonyms": ["Three M syndrome", "Gloomy face syndrome", "3M1", "Dolichospondylic dysplasia", "Le Merrer syndrome", "3-MSBN", "Three-M slender-boned nanism", "Yakut short stature syndrome", "3-M syndrome"]} |
Central nervous system tumor
SpecialtyOncology, neurology
A central nervous system tumor (CNS tumor) is an abnormal growth of cells from the tissues of the brain or spinal cord.[1] CNS tumor is a generic term encompassing over 120 distinct tumor types.[2] Common symptoms of CNS tumors include vomiting, headach... | Central nervous system tumor | c0085136 | 5,070 | wikipedia | https://en.wikipedia.org/wiki/Central_nervous_system_tumor | 2021-01-18T18:41:26 | {"mesh": ["D016543"], "wikidata": ["Q4335557"]} |
Autosomal dominant optic atrophy and cataract is an eye disorder that is characterized by impaired vision. Most affected individuals have decreased sharpness of vision (visual acuity) from birth, while others begin to experience vision problems in early childhood or later. In affected individuals, both eyes are usual... | Autosomal dominant optic atrophy and cataract | c1833809 | 5,071 | medlineplus | https://medlineplus.gov/genetics/condition/autosomal-dominant-optic-atrophy-and-cataract/ | 2021-01-27T08:24:58 | {"gard": ["10203"], "mesh": ["C537128"], "omim": ["165300"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that Schuurs-Hoeijmakers syndrome (SHMS) is caused by heterozygous mutation in the PACS1 gene (607492) on chromosome 11q13.
Description
Schuurs-Hoeijmakers syndrome is an autosomal dominant disorder characterized by mental retardation, distinct craniofac... | SCHUURS-HOEIJMAKERS SYNDROME | c3554343 | 5,072 | omim | https://www.omim.org/entry/615009 | 2019-09-22T15:53:28 | {"doid": ["0070047"], "omim": ["615009"], "orphanet": ["329224"], "synonyms": ["Alternative titles", "MENTAL RETARDATION, AUTOSOMAL DOMINANT 17"]} |
Ocular melanoma (OM) is a cancer in pigment-producing cells of the eye called melanocytes. Melanocytes are cells that produce the pigment melanin that colors the skin, hair, and eyes, as well as forms moles. There are four tissues in the eye in which melanoma can develop: the uveal tract (uvea); conjunctiva; eyelid; ... | Ocular melanoma | c0558356 | 5,073 | gard | https://rarediseases.info.nih.gov/diseases/7236/ocular-melanoma | 2021-01-18T17:58:38 | {"umls": ["C0558356"], "synonyms": []} |
An extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in inf... | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | c3279990 | 5,074 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=391487 | 2021-01-23T17:09:03 | {"omim": ["614162"], "icd-10": ["K63.9"]} |
Ectomesenchymoma is a rare, fast-growing tumor of the nervous system or soft tissue that occurs mainly in children, although cases have been reported in patients up to age 60.[1] Ectomesenchymomas may form in the head and neck, abdomen, perineum, scrotum, or limbs. Also called malignant ectomesenchymoma.
Malignant e... | Ectomesenchymoma | c0431111 | 5,075 | wikipedia | https://en.wikipedia.org/wiki/Ectomesenchymoma | 2021-01-18T18:44:28 | {"umls": ["C0431111"], "wikidata": ["Q5334252"]} |
An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.
*[v]: View this template
*[t]: Discuss this template
*[e... | Brachyolmia-amelogenesis imperfecta syndrome | c1832594 | 5,076 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2899 | 2021-01-23T18:37:26 | {"gard": ["5478"], "mesh": ["C536538"], "omim": ["601216"], "umls": ["C1832594"], "icd-10": ["Q76.3"], "synonyms": ["Platyspondyly-amelogenesis imperfecta syndrome", "Verloes-Bourguignon syndrome"]} |
Esophageal carcinoma (EC) is a tumor arising in the epithelial cells lining the esophagus and can be divided into two subtypes: esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC).
## Epidemiology
The estimated annual incidence of EC in Europe is approximately 1/13,300.
## Clinical descri... | Carcinoma of esophagus | c0014859 | 5,077 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=70482 | 2021-01-23T18:50:18 | {"mesh": ["D004938"], "umls": ["C0014859", "C0152018", "C0546837"], "synonyms": ["Esophageal carcinoma"]} |
A number sign (#) is used with this entry because of the occurrence of cerebral arteriovenous malformations in several genetic disorders including hereditary hemorrhagic telangiectasia (HHT; 187300) and hereditary neurocutaneous angioma (106070). A promoter polymorphism in the IL6 gene (147620) is associated with sus... | ARTERIOVENOUS MALFORMATIONS OF THE BRAIN | c0917804 | 5,078 | omim | https://www.omim.org/entry/108010 | 2019-09-22T16:44:46 | {"doid": ["0060688"], "mesh": ["D002538"], "omim": ["108010"], "icd-10": ["Q28.2"], "orphanet": ["46724"], "synonyms": ["Alternative titles", "BAVM", "CEREBRAL ARTERIOVENOUS MALFORMATIONS"]} |
A number sign (#) is used with this entry because of evidence that Ogden syndrome (OGDNS) is caused by mutation in the NAA10 gene (300013) on chromosome Xq28.
Description
Ogden syndrome is an X-linked neurodevelopmental disorder characterized by postnatal growth failure, severely delayed psychomotor development, va... | OGDEN SYNDROME | c3275447 | 5,079 | omim | https://www.omim.org/entry/300855 | 2019-09-22T16:19:29 | {"doid": ["0050781"], "omim": ["300855"], "orphanet": ["276432"], "synonyms": ["Alternative titles", "N-TERMINAL ACETYLTRANSFERASE DEFICIENCY", "Premature aging appearance-developmental delay-cardiac arrhythmia syndrome"]} |
A number sign (#) is used with this entry because of evidence that renal hypomagnesemia-5 with ocular involvement (HOMG5) is caused by homozygous or compound heterozygous mutation in the claudin-19 gene (CLDN19; 610036) on chromosome 3q28.
Description
HOMG5 is an autosomal recessive disorder characterized by severe... | HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT | c2931121 | 5,080 | omim | https://www.omim.org/entry/248190 | 2019-09-22T16:25:43 | {"doid": ["0060881"], "mesh": ["C536148"], "omim": ["248190"], "orphanet": ["2196"], "synonyms": ["Alternative titles", "HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT", "HYPOMAGNESEMIA, FAMILIAL, WITH HYPERCALCIURIA, NEPHROCALCINOSIS, AND SEVERE OCULAR INVOLVEMENT", "FHHNC WITH SEVERE OCULAR INVOLVEMENT", "MACULAR COL... |
High ankle sprain
Other namesSyndesmotic ankle sprain, syndesmotic ankle injury
SpecialtyOrthopedics
A high ankle sprain, also known as a syndesmotic ankle sprain (SAS), is a sprain of the syndesmotic ligaments that connect the tibia and fibula in the lower leg, thereby creating a mortise and tenon joint for... | High ankle sprain | None | 5,081 | wikipedia | https://en.wikipedia.org/wiki/High_ankle_sprain | 2021-01-18T19:05:57 | {"wikidata": ["Q5757498"]} |
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a severe disorder affecting the muscles that line the bladder and intestines. It is characterized by impairment of the muscle contractions that move food through the digestive tract (peristalsis) and empty the bladder.
Some of the major feature... | Megacystis-microcolon-intestinal hypoperistalsis syndrome | c1608393 | 5,082 | medlineplus | https://medlineplus.gov/genetics/condition/megacystis-microcolon-intestinal-hypoperistalsis-syndrome/ | 2021-01-27T08:25:42 | {"gard": ["12743", "3442"], "mesh": ["C536138"], "omim": ["155310"], "synonyms": []} |
Oppenheimer and Andrews (1959) reported 2 cases: a 4-year-old white male from West Virginia who died from liver failure and had ceroid deposits of liver, spleen and intestinal mucosa, and a white 22-month-old female who at autopsy had ceroid limited largely to hepatic macrophages. The sister and 2 brothers reported b... | CEROID STORAGE DISEASE | c0268281 | 5,083 | omim | https://www.omim.org/entry/214200 | 2019-09-22T16:29:48 | {"mesh": ["D009472"], "omim": ["214200"], "icd-10": ["E75.4"], "orphanet": ["79263"], "synonyms": ["Alternative titles", "LIPOFUSCIN STORAGE DISEASE"]} |
A number sign (#) is used with this entry because tyrosinemia type II (TYRSN2) is caused by homozygous or compound heterozygous mutation in the tyrosine aminotransferase gene (TAT; 613018) on chromosome 16q22.
Description
Tyrosinemia type II is an autosomal recessive disorder characterized by keratitis, painful pal... | TYROSINEMIA, TYPE II | c0268487 | 5,084 | omim | https://www.omim.org/entry/276600 | 2019-09-22T16:21:28 | {"doid": ["0050725"], "mesh": ["D020176"], "omim": ["276600"], "orphanet": ["28378"], "synonyms": ["Alternative titles", "RICHNER-HANHART SYNDROME", "TYROSINE AMINOTRANSFERASE DEFICIENCY", "TAT DEFICIENCY", "TYROSINE TRANSAMINASE DEFICIENCY", "KERATOSIS PALMOPLANTARIS WITH CORNEAL DYSTROPHY", "OREGON TYPE TYROSINEMIA",... |
Negative socio-psychological effects of consumerism
For diseases correlating with affluence, see Diseases of affluence.
For other uses, see Affluenza (disambiguation).
Part of series on
Anti-consumerism
Theories and ideas
* Affluenza
* Alternative culture
* Anti-capitalism
* Autonomous building
*... | Affluenza | None | 5,085 | wikipedia | https://en.wikipedia.org/wiki/Affluenza | 2021-01-18T19:07:24 | {"wikidata": ["Q1349829"]} |
Spinocerebellar ataxia with epilepsy is a rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia. Liver failure may also occur, most often in association w... | Spinocerebellar ataxia with epilepsy | c1843851 | 5,086 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=254881 | 2021-01-23T17:28:15 | {"mesh": ["C537583"], "omim": ["607459"], "umls": ["C1843851", "C1843852"], "icd-10": ["G11.0"], "synonyms": ["MSCAE", "Mitochondrial spinocerebellar ataxia with epilepsy", "SCAE"]} |
Micrograph of psammoma body in the centre of the field in a meningioma of brain. H&E stain.
A psammoma body is a round collection of calcium, seen microscopically. The term is derived from the Greek word ψάμμος (psámmos), meaning "sand".
## Contents
* 1 Cause
* 2 Association with lesions
* 3 Benign lesions
... | Psammoma body | None | 5,087 | wikipedia | https://en.wikipedia.org/wiki/Psammoma_body | 2021-01-18T18:54:11 | {"umls": ["C0391863"], "wikidata": ["Q487813"]} |
Opsismodysplasia is a rare skeletal dysplasia characterized by congenital short stature and characteristic craniofacial abnormalities. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel (the space between the front bones of the skull), ... | Opsismodysplasia | c0432219 | 5,088 | gard | https://rarediseases.info.nih.gov/diseases/4098/opsismodysplasia | 2021-01-18T17:58:35 | {"mesh": ["C537122"], "omim": ["258480"], "umls": ["C0432219"], "orphanet": ["2746"], "synonyms": []} |
A rare group of primary bone dysplasia disorders characterized by the association of epiphyseal anomalies of long bones causing joint pain early in life, recurrent osteochondritis and early arthrosis. This group contains an heterogeneous group of diseases with variable expression. Common reported clinical signs inclu... | Multiple epiphyseal dysplasia | c0026760 | 5,089 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251 | 2021-01-23T18:57:26 | {"gard": ["10756"], "mesh": ["D010009"], "umls": ["C0026760"], "icd-10": ["Q77.3"], "synonyms": ["EDM", "MED", "Polyepiphyseal dysplasia"]} |
A number sign (#) is used with this entry because of evidence that Keutel syndrome (KTLS) is caused by homozygous mutation in the gene encoding the human matrix Gla protein (MGP; 154870) on chromosome 12p12.
Description
Keutel syndrome is an autosomal recessive disorder characterized by multiple peripheral pulmonar... | KEUTEL SYNDROME | c1855607 | 5,090 | omim | https://www.omim.org/entry/245150 | 2019-09-22T16:26:05 | {"mesh": ["C536167"], "omim": ["245150"], "orphanet": ["85202"], "synonyms": ["Alternative titles", "PULMONIC STENOSIS, BRACHYTELEPHALANGISM, AND CALCIFICATION OF CARTILAGES"]} |
Chromosomal disorder in which there are three copies of chromosome 18
Edwards syndrome
Other namesTrisomy 18 (T18[1]), chromosome 18 duplication,[2] trisomy E syndrome[3]
Chromosome 18
SpecialtyMedical genetics, pediatrics
SymptomsSmall head, small jaw, clenched fists with overlapping fingers, profound intel... | Edwards syndrome | c0152096 | 5,091 | wikipedia | https://en.wikipedia.org/wiki/Edwards_syndrome | 2021-01-18T18:44:40 | {"gard": ["6321"], "mesh": ["D000073842"], "umls": ["C0152096"], "orphanet": ["3380"], "wikidata": ["Q457737"]} |
A number sign (#) is used with this entry because of evidence that early infantile epileptic encephalopathy-54 (EIEE54) is caused by heterozygous mutation in the HNRNPU gene (602869) on chromosome 1q44.
For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350).
D... | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54 | c0393706 | 5,092 | omim | https://www.omim.org/entry/617391 | 2019-09-22T15:46:04 | {"doid": ["0080418"], "omim": ["617391"], "orphanet": ["1934"]} |
A rare, congenital cardiac anomaly characterized by a common atrioventricular junction with a common AV valve, an interatrial communication just above the common AV valve (ostium primum defect), a posterior interventricular communication (inlet VSD), that results in shunting at both the atrial and ventricular level. ... | Complete atrioventricular septal defect | c0344787 | 5,093 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1329 | 2021-01-23T18:43:21 | {"gard": ["1454"], "umls": ["C0221215", "C0344787"], "icd-10": ["Q21.2"], "synonyms": ["CAVC", "Complete AVSD", "Complete atrioventricular canal", "Complete atrioventricular canal defect", "Complete atrioventricular septal defect with atrial and ventricular components"]} |
"Low T" redirects here. It is not to be confused with LOWT or T Low.
Endocrine disease
Hypogonadism
Other namesInterrupted stage 1 puberty
SpecialtyEndocrinology
Hypogonadism means diminished functional activity of the gonads—the testes or the ovaries—that may result in diminished production of sex hormone... | Hypogonadism | c0271623 | 5,094 | wikipedia | https://en.wikipedia.org/wiki/Hypogonadism | 2021-01-18T19:06:51 | {"mesh": ["D007006"], "umls": ["C0020619", "C0271623", "C0948896", "C3489396"], "icd-9": ["257.2"], "icd-10": ["E23.0", "E28.3", "E29.1"], "wikidata": ["Q938107"]} |
An extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe devel... | Arthrogryposis multiplex congenita-whistling face syndrome | c1859711 | 5,095 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1150 | 2021-01-23T18:03:40 | {"gard": ["792"], "mesh": ["C538401"], "omim": ["208155"], "umls": ["C1859711"], "icd-10": ["Q87.8"], "synonyms": ["Illum syndrome"]} |
Loss of hair from the head or body
"Bald" redirects here. For other uses, see Bald (disambiguation).
"Balding" redirects here. For the surname, see Balding (surname).
"Alopecia" redirects here. For other uses, see Alopecia (disambiguation).
Hair loss
Other namesAlopecia, baldness
A bald spot on a man
Pronun... | Hair loss | c0002170 | 5,096 | wikipedia | https://en.wikipedia.org/wiki/Hair_loss | 2021-01-18T18:32:57 | {"mesh": ["D000505"], "icd-9": ["704.09"], "icd-10": ["L65.9"], "wikidata": ["Q2697787"]} |
Helminthiasis
Sparganosis
SpecialtyInfectious disease
Sparganosis is a parasitic infection caused by the plerocercoid larvae of the genus Spirometra including S. mansoni, S. ranarum, S. mansonoides and S. erinacei.[1][2] It was first described by Patrick Manson from China in 1882,[3] and the first human c... | Sparganosis | c0037753 | 5,097 | wikipedia | https://en.wikipedia.org/wiki/Sparganosis | 2021-01-18T19:00:41 | {"mesh": ["D013031"], "umls": ["C0037753"], "wikidata": ["Q842169"]} |
A rare acrofacial dysostosis that is characterized by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital rays and ulnar hypoplasia.
## Epidemiology
Less than 30 cases of Postaxial acrofacial dysostosis (P... | Postaxial acrofacial dysostosis | c0265257 | 5,098 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=246 | 2021-01-23T18:45:57 | {"gard": ["8410"], "mesh": ["C537680"], "omim": ["263750"], "umls": ["C0265257"], "icd-10": ["Q75.4"], "synonyms": ["Acrofacial dysostosis, Genee-Wiedemann type", "Mandibulofacial dysostosis with postaxial limb anomalies", "Miller syndrome", "POADS", "Postaxial acrodysostosis"]} |
Pathological demand avoidance (PDA) is a proposed sub-type of autism spectrum disorder.[1] Characteristics ascribed to the condition include greater refusal to do what is asked of the person, even to activities the person would normally like.[1] It is not recognized by either the DSM-5[2] or the ICD-10[3] and is unli... | Pathological demand avoidance | c4076623 | 5,099 | wikipedia | https://en.wikipedia.org/wiki/Pathological_demand_avoidance | 2021-01-18T19:00:10 | {"umls": ["C4076623"], "wikidata": ["Q7144824"]} |
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