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A number sign (#) is used with this entry because of evidence that a retinitis pigmentosa-deafness syndrome is due to mutation in the MTTS2 gene (590085).
Clinical Features
Kumar-Singh et al. (1993) reported an extensive Irish kindred segregating retinitis pigmentosa and deafness. Affected members usually presented... | RETINITIS PIGMENTOSA-DEAFNESS SYNDROME | c0271097 | 6,400 | omim | https://www.omim.org/entry/500004 | 2019-09-22T16:16:59 | {"doid": ["0110829"], "mesh": ["D052245"], "omim": ["500004"], "orphanet": ["886", "231183"], "synonyms": ["Alternative titles", "RETINITIS PIGMENTOSA 8, FORMERLY", "RETINITIS PIGMENTOSA 21, FORMERLY"]} |
A number sign (#) is used with this entry because progressive familial intrahepatic cholestasis-4 (PFIC4) is caused by homozygous or compound heterozygous mutation in the TJP2 gene (607709) on chromosome 9q21.
For a phenotypic description and a discussion of genetic heterogeneity of progressive familial intrahepatic... | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4 | c0268312 | 6,401 | omim | https://www.omim.org/entry/615878 | 2019-09-22T15:50:46 | {"doid": ["0070224"], "omim": ["615878"], "orphanet": ["172", "79304", "480483"]} |
Prion diseases are a group of rare transmissible disorders characterized by progressive debilitating neurological manifestations due to spongiform changes with an invariably fatal course. The disorders all involve accumulation of an abnormal prion protein in the central nervous system with no specific immunological r... | Human prion disease | c0162534 | 6,402 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=56970 | 2021-01-23T17:27:03 | {"mesh": ["D017096"], "umls": ["C0162534"], "icd-10": ["A81.0", "A81.1", "A81.8", "A81.9"], "synonyms": ["TSE", "Transmissible spongiform encephalopathy"]} |
A rare frontonasal dysplasia characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin, nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.
## Epidemiology
Pai syndrome (PS) has been report... | Pai syndrome | c1835087 | 6,403 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1993 | 2021-01-23T18:10:11 | {"gard": ["3439"], "mesh": ["C536135"], "omim": ["155145"], "umls": ["C1835087"], "icd-10": ["Q87.8"], "synonyms": ["Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome"]} |
Glycogen storage disease type I (also known as GSDI or von Gierke disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to fu... | Glycogen storage disease type I | c0017920 | 6,404 | medlineplus | https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-i/ | 2021-01-27T08:25:35 | {"gard": ["7864", "2515"], "mesh": ["D005953"], "omim": ["232200", "232220"], "synonyms": []} |
Hemangioma
Hemangioma
SpecialtyOncology
A hemangioma or haemangioma is a usually benign vascular tumor derived from blood vessel cell types. The most common form is infantile hemangioma, known colloquially as a "strawberry mark", most commonly seen on the skin at birth or in the first weeks of life. A hemang... | Hemangioma | c0018916 | 6,405 | wikipedia | https://en.wikipedia.org/wiki/Hemangioma | 2021-01-18T18:30:47 | {"mesh": ["D006391"], "umls": ["C0018916"], "wikidata": ["Q861028"]} |
Distal muscular dystrophy
Other namesDistal myopathy
DYSF
SpecialtyNeurology
Distal muscular dystrophy is a group of disorders characterized by onset in the hands or feet. Many types involve dysferlin, but it has been suggested that not all cases do.[1]
## Contents
* 1 Types
* 2 Cause
* 3 Diagn... | Distal muscular dystrophy | c1864706 | 6,406 | wikipedia | https://en.wikipedia.org/wiki/Distal_muscular_dystrophy | 2021-01-18T18:49:33 | {"mesh": ["C566445", "D049310"], "umls": ["C1864706"], "icd-9": ["359.1"], "orphanet": ["5448", "59135", "63273", "599", "399096"], "wikidata": ["Q5282843"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive limb-girdle muscular dystrophy-23 (LGMDR23) is caused by homozygous or compound heterozygous mutation in the LAMA2 gene (156225) on chromosome 6q22.
Biallelic mutation in the LAMA2 gene can also cause congenital muscular dystr... | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 | c1263858 | 6,407 | omim | https://www.omim.org/entry/618138 | 2019-09-22T15:43:31 | {"mesh": ["C537384"], "omim": ["618138"], "orphanet": ["258"], "genereviews": ["NBK97333"]} |
For the scientific journals, see Carcinogenesis (journal) and Oncogenesis (journal).
The formation of cancer
Cancers and tumors are caused by a series of mutations. Each mutation alters the behavior of the cell somewhat.
Carcinogenesis, also called oncogenesis or tumorigenesis, is the formation of a cancer, whereb... | Carcinogenesis | c0596263 | 6,408 | wikipedia | https://en.wikipedia.org/wiki/Carcinogenesis | 2021-01-18T18:52:00 | {"mesh": ["D063646"], "wikidata": ["Q1637543"]} |
A rare disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysi... | Mitochondrial trifunctional protein deficiency | c1969443 | 6,409 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=746 | 2021-01-23T17:42:21 | {"gard": ["3684"], "mesh": ["C566945", "D024741"], "omim": ["609015"], "umls": ["C0342786", "C1969443"], "icd-10": ["G71.3"], "synonyms": ["TFP deficiency", "TFPD"]} |
Alpha-1 antitrypsin deficiency (AATD) is an inherited disease that causes an increased risk of having chronic obstructive pulmonary disease (COPD), liver disease, skin problems (panniculitis), and inflammation of the blood vessels (vasculitis). Lung (pulmonary) problems almost always occur in adults, whereas liver an... | Alpha-1 antitrypsin deficiency | c0221757 | 6,410 | gard | https://rarediseases.info.nih.gov/diseases/5784/alpha-1-antitrypsin-deficiency | 2021-01-18T18:02:11 | {"mesh": ["D019896"], "omim": ["613490"], "umls": ["C0221757"], "orphanet": ["60"], "synonyms": ["AAT deficiency", "A1AT deficiency", "AATD", "Alpha 1 antitrypsin deficiency"]} |
CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi.
## Clinical description
Patients also present with disproportionate fat distribution. CLOVE syndrome may be associated with varying degrees of scoliosis and enlarge... | CLOVES syndrome | c2752042 | 6,411 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=140944 | 2021-01-23T17:30:32 | {"gard": ["10939"], "mesh": ["C567863"], "omim": ["612918"], "icd-10": ["Q87.3"], "synonyms": ["Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome", "Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome"]} |
Not to be confused with Central hypoventilation syndrome.
A sleep-related disorder in which the effort to breathe is diminished
Central sleep apnea
Other namesprimary alveolar hypoventilation, alveolar hypoventilation secondary to neurologic disease, idiopathic acquired central hypoventilation syndrome
Specialt... | Central sleep apnea | c0520680 | 6,412 | wikipedia | https://en.wikipedia.org/wiki/Central_sleep_apnea | 2021-01-18T19:05:09 | {"mesh": ["D020182"], "umls": ["C0520680"], "wikidata": ["Q3620651"]} |
AREDYLD syndrome
AREDYLD syndrome is inherited in an autosomal recessive manner
AREDYLD stands for acral renal ectodermal dysplasia lipoatrophic diabetes. AREDLYD is categorized as a rare disease, meaning it affects fewer than 200,000 people in the American population at any given time.
It was characteriz... | AREDYLD syndrome | c0342280 | 6,413 | wikipedia | https://en.wikipedia.org/wiki/AREDYLD_syndrome | 2021-01-18T18:33:52 | {"gard": ["8509"], "mesh": ["C537427"], "umls": ["C0342280"], "orphanet": ["1133"], "wikidata": ["Q4653653"]} |
## Summary
### Clinical characteristics.
Spinocerebellar ataxia type 6 (SCA6) is characterized by adult-onset, slowly progressive cerebellar ataxia, dysarthria, and nystagmus. The age of onset ranges from 19 to 73 years; mean age of onset is between 43 and 52 years. Initial symptoms are gait unsteadiness, stumb... | Spinocerebellar Ataxia Type 6 | c0752124 | 6,414 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1140/ | 2021-01-18T20:54:58 | {"mesh": ["D020754"], "synonyms": ["SCA6"]} |
Ictal asystole is a rare occurrence for patients that have temporal lobe epilepsy.[1] It can often be identified by loss of muscle tone or the presence of bilateral asymmetric jerky limb movements during a seizure, although ECG monitoring is necessary to provide a firm result.[2] Ictal asystole and Ictal bradycardia ... | Ictal asystole | None | 6,415 | wikipedia | https://en.wikipedia.org/wiki/Ictal_asystole | 2021-01-18T19:05:56 | {"wikidata": ["Q5986769"]} |
A rare mitochondrial disease characterized by bilateral auditory neuropathy and optic atrophy. Patients present hearing and visual impairment in the first or second decade of life, while psychomotor development is normal. Bilateral retinitis pigmentosa has been reported in association.
*[v]: View this template... | Auditory neuropathy-optic atrophy syndrome | c4521678 | 6,416 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=542585 | 2021-01-23T17:09:36 | {"omim": ["617717"]} |
Chemical eye injury
Other namesChemical burns to the eye
An alkali burn to the human cornea can cause ocular surface failure with neovascularisation, opacification and blindness resulting from LESC deficiency.
SpecialtyOphthalmology
Chemical eye injury are due to either an acidic or alkali substance gettin... | Chemical eye injury | c1096387 | 6,417 | wikipedia | https://en.wikipedia.org/wiki/Chemical_eye_injury | 2021-01-18T18:46:09 | {"icd-10": ["T26.9"], "wikidata": ["Q5090456"]} |
A number sign (#) is used with this entry because of evidence that glycogen storage disease XIII (GSD13) is caused by compound heterozygous mutation in the ENO3 gene (131370), which encodes beta-enolase, on chromosome 17p13. One such patient has been reported.
Clinical Features
Comi et al. (2001) described a 47... | GLYCOGEN STORAGE DISEASE XIII | c2752027 | 6,418 | omim | https://www.omim.org/entry/612932 | 2019-09-22T16:00:20 | {"mesh": ["C567861"], "omim": ["612932"], "orphanet": ["99849"], "synonyms": ["Alternative titles", "GSD XIII", "ENOLASE 3 DEFICIENCY", "ENOLASE-BETA DEFICIENCY"]} |
## Summary
### Clinical characteristics.
Epimerase deficiency galactosemia (GALE deficiency galactosemia) is a continuum comprising three forms:
* Generalized. Enzyme activity is profoundly decreased in all tissues tested.
* Peripheral. Enzyme activity is deficient in red blood cells (RBC) and circulating whi... | Epimerase Deficiency Galactosemia | c0268151 | 6,419 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK51671/ | 2021-01-18T21:28:31 | {"mesh": ["D005693"], "synonyms": ["GALE Deficiency", "Galactosemia Type III", "UDP-Galactose-4'-Epimerase Deficiency"]} |
A rare, potentially lethal intoxication characterized by life-threatening arrhythmias (sinus tachycardias, premature ventricular contractions, ventricular arrhythmias), anticholinergic toxidrome (mydriasis, dry mucous membrane, tachycardia, hypertension), central nervous system toxicity (lethargy, coma, myoclonic jer... | Acute tricyclic antidepressant poisoning | None | 6,420 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=43117 | 2021-01-23T18:32:41 | {"icd-10": ["T43.0"]} |
A number sign (#) is used with this entry because of evidence that spinocerebellar ataxia-43 (SCA43) is caused by heterozygous mutation in the MME gene (120520) on chromosome 3q25. One such family has been reported.
Description
Spinocerebellar ataxia-43 is an autosomal dominant, slowly progressive neurologic disord... | SPINOCEREBELLAR ATAXIA 43 | c4310763 | 6,421 | omim | https://www.omim.org/entry/617018 | 2019-09-22T15:47:14 | {"omim": ["617018"]} |
A number sign (#) is used with this entry because osteogenesis imperfecta type VII (OI7) is caused by homozygous or compound heterozygous mutation in the CRTAP gene (605497) on chromosome 3p22.
Description
Osteogenesis imperfecta is a connective tissue disorder characterized by bone fragility and low bone mass. OI ... | OSTEOGENESIS IMPERFECTA, TYPE VII | c0268362 | 6,422 | omim | https://www.omim.org/entry/610682 | 2019-09-22T16:04:13 | {"doid": ["0110337"], "mesh": ["C536044"], "omim": ["610682"], "orphanet": ["216812", "216804", "216820", "666"], "synonyms": ["Alternative titles", "OI, TYPE VII", "OSTEOGENESIS IMPERFECTA, TYPE IIB, FORMERLY"]} |
A number sign (#) is used with this entry because of evidence that a reduced level of plasma LDL cholesterol is caused by heterozygous mutation in the LIMA1 gene (608364) on chromosome 12q13.
Description
LDLCQ8 is a quantitative trait affecting LDL cholesterol levels that is effected through the LIMA1 gene, which h... | LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 8 | None | 6,423 | omim | https://www.omim.org/entry/618079 | 2019-09-22T15:43:49 | {"omim": ["618079"]} |
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Neuromuscular junction disease
SpecialtyNeurology
Neuromuscular junction disease is a med... | Neuromuscular junction disease | c0751950 | 6,424 | wikipedia | https://en.wikipedia.org/wiki/Neuromuscular_junction_disease | 2021-01-18T18:45:19 | {"mesh": ["D020511"], "umls": ["C0751950"], "orphanet": ["98491"], "wikidata": ["Q7002430"]} |
Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB, see this term) occurring in childhood or young adulthood.
## Epidemiology
Prevalence is unknown. 22 patients in 12 families have been reported to date.
## Clinical description
Blistering occurs at first around n... | Late-onset junctional epidermolysis bullosa | c4304724 | 6,425 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79406 | 2021-01-23T18:44:23 | {"gard": ["12921"], "icd-10": ["Q81.8"], "synonyms": ["Epidermolysis bullosa progressiva", "JEB-lo", "Late-onset JEB"]} |
In 4 generations of a family in Germany, Hamann et al. (1992) observed the combination of multiple exostoses of typical nature (133700) in association with spastic tetraparesis. There were no exostoses in the spine or cranium to account for the tetraspastic disorder. The pedigree pattern was consistent with autosomal... | MULTIPLE EXOSTOSES WITH SPASTIC TETRAPARESIS | c1834724 | 6,426 | omim | https://www.omim.org/entry/158345 | 2019-09-22T16:37:58 | {"mesh": ["C563566"], "omim": ["158345"]} |
A number sign (#) is used with this entry because of evidence that Fontaine progeroid syndrome (FPS) is caused by heterozygous mutation in the SLC25A24 gene (608744) on chromosome 1p36.
Description
Fontaine progeroid syndrome is characterized by prenatal and postnatal growth retardation, decreased subcutaneous fat ... | FONTAINE PROGEROID SYNDROME | c2931653 | 6,427 | omim | https://www.omim.org/entry/612289 | 2019-09-22T16:01:53 | {"mesh": ["C537886"], "omim": ["612289"], "orphanet": ["2963", "2095"], "synonyms": ["Alternative titles", "GORLIN-CHAUDHRY-MOSS SYNDROME", "PROGEROID SYNDROME, CONGENITAL, PETTY TYPE", "CRANIOFACIAL DYSOSTOSIS, HYPERTRICHOSIS, HYPOPLASIA OF LABIA MAJORA, DENTAL AND EYE ANOMALIES, PATENT DUCTUS ARTERIOSUS, AND NORMAL I... |
Keratitis-ichthyosis-deafness (KID) syndrome is characterized by eye problems, skin abnormalities, and hearing loss.
People with KID syndrome usually have keratitis, which is inflammation of the front surface of the eye (the cornea). The keratitis may cause pain, increased sensitivity to light (photophobia), abnorma... | Keratitis-ichthyosis-deafness syndrome | c0265336 | 6,428 | medlineplus | https://medlineplus.gov/genetics/condition/keratitis-ichthyosis-deafness-syndrome/ | 2021-01-27T08:25:31 | {"gard": ["2946", "3113"], "mesh": ["C536168"], "omim": ["148210", "242150"], "synonyms": []} |
Fetal valproate syndrome (FVS) may occur if a developing baby is exposed to valproic acid during pregnancy. Valproic acid, also known as valproate, is a medication that is often used to treat epilepsy, bipolar disorder, and migraines. Many babies who are exposed to this medication during pregnancy are born healthy wi... | Fetal valproate syndrome | c0236026 | 6,429 | gard | https://rarediseases.info.nih.gov/diseases/5447/fetal-valproate-syndrome | 2021-01-18T18:00:29 | {"mesh": ["C536525"], "omim": ["609442"], "orphanet": ["1906"], "synonyms": ["Valproic acid embryopathy", "Susceptibility to valproate embryopathy", "FVS", "Fetal valproic acid syndrome"]} |
A number sign (#) is used with this entry because of evidence that peripheral neuropathy, myopathy, hoarseness, and hearing loss (PNMHH) is caused by heterozygous mutation in the MYH14 gene (608568) on chromosome 19q13. One such family has been reported.
Clinical Features
Choi et al. (2011) reported a large 5-gener... | PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS | c3280556 | 6,430 | omim | https://www.omim.org/entry/614369 | 2019-09-22T15:55:39 | {"omim": ["614369"], "orphanet": ["397744"], "synonyms": ["Peripheral neuropathy-myopathy-hoarseness-deafness syndrome"]} |
A number sign (#) is used with this entry because spastic paraplegia-2 can be caused by mutation in the myelin proteolipid protein gene (PLP1; 300401) and is therefore allelic to Pelizaeus-Merzbacher disease (PMD; 312080).
Description
The hereditary spastic paraplegias (SPG) are a group of clinically and geneticall... | SPASTIC PARAPLEGIA 2, X-LINKED | c1839264 | 6,431 | omim | https://www.omim.org/entry/312920 | 2019-09-22T16:17:15 | {"doid": ["0110773"], "mesh": ["C536857"], "omim": ["312920"], "orphanet": ["99015"], "synonyms": ["Alternative titles", "SPPX2"], "genereviews": ["NBK1182"]} |
For a general discussion of susceptibility to infection by Mycobacterium tuberculosis, see 607948.
Bellamy et al. (2000) conducted a 2-stage genomewide linkage study of 136 African families to search for regions of the human genome containing tuberculosis susceptibility genes. They used sib-pair families that contai... | MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, X-LINKED | c1866629 | 6,432 | omim | https://www.omim.org/entry/300259 | 2019-09-22T16:20:36 | {"omim": ["300259"], "synonyms": ["Alternative titles", "MTBSX"]} |
The endemic nephropathy commonly called 'Balkan' is more properly called Danubian. It occurs in a relatively restricted rural area of Roumania, Bulgaria and Yugoslavia near the Danubian Iron Gates. Clinical, epidemiologic and laboratory investigations are thought to have excluded selected forms (although not necessar... | DANUBIAN ENDEMIC FAMILIAL NEPHROPATHY | c0004698 | 6,433 | omim | https://www.omim.org/entry/124100 | 2019-09-22T16:42:35 | {"doid": ["3052"], "mesh": ["D001449"], "omim": ["124100"], "icd-10": ["N15.0"], "synonyms": ["Alternative titles", "DEFN", "BALKAN ENDEMIC NEPHROPATHY", "NEPHROPATHIA EPIDEMICA"]} |
A number sign (#) is used with this entry because of evidence that Joubert syndrome-25 (JBTS25) is caused by homozygous or compound heterozygous mutation in the CEP104 gene (616690) on chromosome 1p36.
Description
Joubert syndrome-25 is an autosomal recessive ciliopathy characterized by delayed psychomotor developm... | JOUBERT SYNDROME 25 | c4084842 | 6,434 | omim | https://www.omim.org/entry/616781 | 2019-09-22T15:47:56 | {"doid": ["0110994"], "omim": ["616781", "213300"], "orphanet": ["475"], "synonyms": ["CPD IV", "Cerebelloparenchymal disorder IV", "Classic Joubert syndrome", "Joubert syndrome type A", "Joubert-Boltshauser syndrome", "Pure Joubert syndrome"], "genereviews": ["NBK1325"]} |
A rare glial tumor originating from pituicytes, the specialized glial cells of the neurohypophysis, characterized by a sellar or suprasellar mass manifesting with clinical signs secondary to mass effect. Typical manifestations are visual disturbances, headaches, and hypopituitarism. Pituicytomas are low-grade tumors,... | Pituicytoma | c2986550 | 6,435 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251623 | 2021-01-23T17:07:41 | {"umls": ["C2986550"], "icd-10": ["C71.9"]} |
A number sign (#) is used with this entry because autosomal recessive nonsyndromic mental retardation-3 can be caused by homozygous mutation in the CC2D1A gene (610055).
Clinical Features
Basel-Vanagaite et al. (2003) studied nonsyndromic mental retardation in 4 consanguineous families of Israeli-Arab origin with 1... | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3 | c1838023 | 6,436 | omim | https://www.omim.org/entry/608443 | 2019-09-22T16:07:51 | {"doid": ["0060308"], "mesh": ["C563929"], "omim": ["608443"], "orphanet": ["88616"], "synonyms": ["AR-NSID", "NS-ARID"]} |
## Summary
### Clinical characteristics.
KCNQ2-related disorders represent a continuum of overlapping neonatal epileptic phenotypes caused by a heterozygous pathogenic variant in KCNQ2. The clinical features of KCNQ2-related disorders range from KCNQ2-related benign familial neonatal epilepsy (KCNQ2-BFNE) at the mi... | KCNQ2-Related Disorders | None | 6,437 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK32534/ | 2021-01-18T21:16:41 | {"synonyms": []} |
A number sign (#) is used with this entry because immunodeficiency-31A (IMD31A) is caused by heterozygous mutation in the STAT1 gene (600555) on chromosome 2q32.
Immunodeficiency-31B (IMD31B; 613796), an autosomal recessive disorder, and immunodeficiency-31C (IMD31C; 614162), an autosomal dominant disorder, are alle... | IMMUNODEFICIENCY 31A | c4013950 | 6,438 | omim | https://www.omim.org/entry/614892 | 2019-09-22T15:53:48 | {"omim": ["614892"], "orphanet": ["319595"], "synonyms": ["MSMD due to partial STAT1 deficiency", "Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency", "IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT", "Alternative titles", "MSMD du... |
A number sign (#) is used with this entry because, as reviewed in 168600, parkinsonism is a conspicuous and even predominant feature of some of the various neurologic disorders and, as reviewed here, mitochondrial mutations may be involved.
The electron transport chain (ETC) of mitochondria is the last step in cellu... | PARKINSON DISEASE, MITOCHONDRIAL | c1838867 | 6,439 | omim | https://www.omim.org/entry/556500 | 2019-09-22T16:16:46 | {"mesh": ["C564015"], "omim": ["556500"]} |
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Find sources: "Myoclonic astatic epilepsy" – news · newspapers · books · scholar · JSTOR (March 2018) (Learn how and when to remove th... | Myoclonic astatic epilepsy | c4085238 | 6,440 | wikipedia | https://en.wikipedia.org/wiki/Myoclonic_astatic_epilepsy | 2021-01-18T19:05:34 | {"gard": ["2169"], "umls": ["C4085238"], "orphanet": ["1942"], "wikidata": ["Q6947909"]} |
A rare congenital anomaly of the inferior vena cava characterized by complete interruption of the vessel in which no direct continuity exists between the inferior vena cava and the azygos/hemiazygos system. Clinical manifestations depend on the variant drainage patterns or collaterals and include lower extremity ... | Inferior vena cava interruption without azygos continuation | None | 6,441 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99123 | 2021-01-23T17:45:48 | {"icd-10": ["Q26.8"], "synonyms": ["IVC interruption", "Inferior caval vein interruption"]} |
Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phos... | Neurometabolic disorder due to serine deficiency | None | 6,442 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=35705 | 2021-01-23T18:02:25 | {"icd-10": ["E72.8"], "synonyms": ["Serine deficiency"]} |
## Description
The CYP1A2 gene encodes a P450 enzyme involved in O-deethylation of phenacetin. It is 1 of several forms of cytochrome P-450 that have been purified to electrophoretic homogeneity from human liver microsomes (Guengerich et al., 1986). P1-450 (CYP1A1; 108330) and P3-450 are 2 members of the dioxin-ind... | CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 2 | c1852336 | 6,443 | omim | https://www.omim.org/entry/124060 | 2019-09-22T16:42:36 | {"omim": ["124060"], "synonyms": ["Alternative titles", "CYTOCHROME P-450, AROMATIC COMPOUND-INDUCIBLE", "DIOXIN-INDUCIBLE P3-450"]} |
Not to be confused with Carney's triad.
Carney complex
Other namesLAMB syndrome
SpecialtyOncology, cardiology
Carney complex and its subsets LAMB syndrome[1] and NAME syndrome[1] are autosomal dominant conditions comprising myxomas of the heart and skin, hyperpigmentation of the skin (lentiginosis), and end... | Carney complex | c2607929 | 6,444 | wikipedia | https://en.wikipedia.org/wiki/Carney_complex | 2021-01-18T18:52:57 | {"gard": ["1119"], "mesh": ["D056733"], "umls": ["C2607929"], "orphanet": ["1359"], "wikidata": ["Q1044007"]} |
A number sign (#) is used with this entry because Ehlers-Danlos syndrome kyphoscoliotic type 1 (EDSKSCL1), previously designated EDS6, is caused by homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (PLOD1; 153454) on chromosome 1p36.
Description
The Ehlers-Danlos syndromes (EDS... | EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 | c0268342 | 6,445 | omim | https://www.omim.org/entry/225400 | 2019-09-22T16:28:23 | {"mesh": ["C536198"], "omim": ["225400"], "orphanet": ["1900"], "synonyms": ["Alternative titles", "EHLERS-DANLOS SYNDROME, TYPE VI", "EDS VI", "EHLERS-DANLOS SYNDROME, OCULAR-SCOLIOTIC TYPE", "NEVO SYNDROME", "EHLERS-DANLOS SYNDROME, TYPE VIA, FORMERLY"], "genereviews": ["NBK1462"]} |
This article includes a list of references, related reading or external links, but its sources remain unclear because it lacks inline citations. Please help to improve this article by introducing more precise citations. (May 2018) (Learn how and when to remove this template message)
Rose spots on the chest of a ... | Rose spots | c1274375 | 6,446 | wikipedia | https://en.wikipedia.org/wiki/Rose_spots | 2021-01-18T19:01:29 | {"umls": ["C1274375"], "wikidata": ["Q3941500"]} |
Sohval and Soffer (1953) described 2 brothers who were identically affected with mental retardation, multiple skeletal anomalies, and hypogonadism. The testicular histopathology was distinctive. All the seminiferous tubules were involved by one of two distinct processes: true germinal aplasia or complete fibrosis, wi... | HYPOGONADISM, MALE, WITH MENTAL RETARDATION AND SKELETAL ANOMALIES | c2931285 | 6,447 | omim | https://www.omim.org/entry/307500 | 2019-09-22T16:18:10 | {"mesh": ["C536679"], "omim": ["307500"], "orphanet": ["2234"]} |
A number sign (#) is used with this entry because the lethal neonatal form of carnitine palmitoyltransferase II (CPT2) deficiency is caused by homozygous or compound heterozygous mutation in the CPT2 gene (600650) on chromosome 1p32.
Description
Carnitine palmitoyltransferase II deficiency is an inherited disorder ... | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL | c0342790 | 6,448 | omim | https://www.omim.org/entry/608836 | 2019-09-22T16:07:06 | {"doid": ["0060235"], "mesh": ["C535589"], "omim": ["608836"], "orphanet": ["157", "228308"], "synonyms": ["Alternative titles", "CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, NEONATAL", "CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ANTENATAL", "CPT II DEFICIENCY, LETHAL NEONATAL", "CPT2 DEFICIENCY, LETHAL NEONATAL"],... |
Not to be confused with Dysphasia.
Dysphagia
SpecialtyGastroenterology
CausesEsophageal cancer Esophagitis Stomach cancer
Dysphagia is difficulty in swallowing.[1][2] Although classified under "symptoms and signs" in ICD-10,[3] in some contexts it is classified as a condition in its own right.[4][5][6]
It ... | Dysphagia | c0011168 | 6,449 | wikipedia | https://en.wikipedia.org/wiki/Dysphagia | 2021-01-18T18:52:13 | {"mesh": ["D003680"], "icd-9": ["787.2", "438.82"], "icd-10": ["R13"], "wikidata": ["Q623289"]} |
Congenital nephrotic syndrome is a kidney condition that begins in infancy and typically leads to irreversible kidney failure (end-stage renal disease) by early childhood. Children with congenital nephrotic syndrome begin to have symptoms of the condition between birth and 3 months.
The features of congenital ne... | Congenital nephrotic syndrome | c0403399 | 6,450 | medlineplus | https://medlineplus.gov/genetics/condition/congenital-nephrotic-syndrome/ | 2021-01-27T08:25:04 | {"gard": ["1500"], "mesh": ["C535761"], "omim": ["256300", "600995"], "synonyms": []} |
Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome (see this term) characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellect... | Hidrotic ectodermal dysplasia, Halal type | c2930953 | 6,451 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1809 | 2021-01-23T18:35:02 | {"gard": ["280"], "mesh": ["C535621"], "umls": ["C2930953"], "icd-10": ["Q82.8"], "synonyms": ["Halal-Setton-Wang syndrome", "Trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome"]} |
Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes.
*[v]: View this template
*[t]: Discuss this template
*[e]: E... | Maternal uniparental disomy of chromosome 6 | c4707720 | 6,452 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=96181 | 2021-01-23T18:01:39 | {"icd-10": ["Q99.8"], "synonyms": ["UPD(6)mat"]} |
Infestation of parasitic maggots
Myiasis
Other namesFlystrike, blowfly strike, fly-blown
Cutaneous myiasis in the shoulder of a human
Pronunciation
* /ˈmaɪ.əsɪs/ or /maɪˈaɪ.əsɪs/
SpecialtyInfectious disease
Myiasis is the parasitic infestation of the body of a live animal by fly larvae (maggots)... | Myiasis | c0027030 | 6,453 | wikipedia | https://en.wikipedia.org/wiki/Myiasis | 2021-01-18T18:58:30 | {"mesh": ["D009198"], "umls": ["C0027030"], "orphanet": ["75110"], "wikidata": ["Q304601"]} |
A number sign (#) is used with this entry because generalized glucocorticoid resistance (GCCR) is caused by heterozygous mutation in the glucocorticoid receptor gene (NR3C1, GCCR; 138040) on chromosome 5q31.
Description
Generalized glucocorticoid resistance is an autosomal dominant disease characterized by incr... | GLUCOCORTICOID RESISTANCE, GENERALIZED | c1841972 | 6,454 | omim | https://www.omim.org/entry/615962 | 2019-09-22T15:50:32 | {"mesh": ["C564221"], "omim": ["615962"], "orphanet": ["786"], "synonyms": ["Alternative titles", "GLUCOCORTICOID RECEPTOR DEFICIENCY", "GCCR DEFICIENCY", "GCR DEFICIENCY", "GRL DEFICIENCY", "CORTISOL RESISTANCE FROM GLUCOCORTICOID RECEPTOR DEFECT"]} |
Neurodegenerative disease
This article is about the neurodegenerative disease. For other uses, see ALS (disambiguation).
Amyotrophic lateral sclerosis
(ALS)
Other namesLou Gehrig's disease;
Charcot's disease;
motor neurone disease (MND)[1]
An MRI of the brain with increased T2 signal in the posterior part... | Amyotrophic lateral sclerosis | c0002736 | 6,455 | wikipedia | https://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis | 2021-01-18T18:58:10 | {"gard": ["5786"], "mesh": ["D000690"], "umls": ["C0002736"], "orphanet": ["803"], "wikidata": ["Q206901"]} |
Amblyaudia (amblyos- blunt; audia-hearing) is a term coined by Dr. Deborah Moncrieff to characterize a specific pattern of performance from dichotic listening tests. Dichotic listening tests are widely used to assess individuals for binaural integration, a type of auditory processing skill. During the tests, indi... | Amblyaudia | None | 6,456 | wikipedia | https://en.wikipedia.org/wiki/Amblyaudia | 2021-01-18T18:32:00 | {"wikidata": ["Q4741549"]} |
"IMID" redirects here. For IMiD, see immunomodulatory imide drug.
An immune-mediated inflammatory disease (IMID) is any of a group of conditions or diseases that lack a definitive etiology, but which are characterized by common inflammatory pathways leading to inflammation, and which may result from, or be triggered... | Immune-mediated inflammatory diseases | None | 6,457 | wikipedia | https://en.wikipedia.org/wiki/Immune-mediated_inflammatory_diseases | 2021-01-18T19:05:00 | {"wikidata": ["Q6005412"]} |
Cockayne syndrome is a rare disease which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. This syndrome also includes failure to thrive in the newborn, very small head (microcephaly), and impaired nervous system development. Other symptoms may include ... | Cockayne syndrome type III | c0751037 | 6,458 | gard | https://rarediseases.info.nih.gov/diseases/1417/cockayne-syndrome-type-iii | 2021-01-18T18:01:15 | {"mesh": ["D003057"], "omim": ["216411"], "umls": ["C0751037"], "orphanet": ["90324"], "synonyms": ["Cockayne syndrome type C", "Cockayne syndrome type 3"]} |
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an inherited condition that affects many of the body's organs. It is one of many autoimmune diseases, which are disorders that occur when the immune system malfunctions and attacks the body's own tissues and organs by mistake.
In most cases, ... | Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy | c1855869 | 6,459 | medlineplus | https://medlineplus.gov/genetics/condition/autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy/ | 2021-01-27T08:24:33 | {"gard": ["8466"], "mesh": ["C538275"], "omim": ["240300"], "synonyms": []} |
Fitzsimmons et al. (1988) presented a family in which at least 4 persons had evidence of an inherited disorder manifested by variable spastic paraplegia, bilateral sensorineural deafness, intellectual retardation, and progressive nephropathy. Focal segmental proliferative lesions with sclerosis suggestive of mesangia... | SPASTIC PARAPLEGIA, SENSORINEURAL DEAFNESS, MENTAL RETARDATION, AND PROGRESSIVE NEPHROPATHY | c2931667 | 6,460 | omim | https://www.omim.org/entry/182690 | 2019-09-22T16:34:46 | {"mesh": ["C537937"], "omim": ["182690"], "orphanet": ["2820"]} |
Flystrike in sheep is a myiasis condition, in which domestic sheep are infected by one of several species of flies which are external parasites of sheep. Sheep are particularly susceptible to flystrike because their thick wool, if sufficiently contaminated with urine and faecal material, can provide effective breedin... | Fly strike in sheep | None | 6,461 | wikipedia | https://en.wikipedia.org/wiki/Fly_strike_in_sheep | 2021-01-18T19:08:27 | {"wikidata": ["Q16251787"]} |
This article lacks ISBNs for the books listed in it. Please make it easier to conduct research by listing ISBNs. If the {{Cite book}} or {{citation}} templates are in use, you may add ISBNs automatically, or discuss this issue on the talk page. (July 2017)
Boanthropy is a psychological disorder in which a human ... | Boanthropy | None | 6,462 | wikipedia | https://en.wikipedia.org/wiki/Boanthropy | 2021-01-18T18:53:37 | {"wikidata": ["Q4931259"]} |
A rare congenital disorder of copper metabolism that is principally characterized by bony exostoses (including the pathognomonic occipital horns), and connective tissue manifestations with cutis laxa and bladder diverticula. Central nervous system involvement is variable.
## Epidemiology
Occipital horn syndrome (OH... | Occipital horn syndrome | c0268353 | 6,463 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=198 | 2021-01-23T18:27:50 | {"gard": ["4017"], "mesh": ["C537860"], "omim": ["304150"], "umls": ["C0268353", "C1096660"], "icd-10": ["E83.0"]} |
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Autoimmune optic neuropathy" – news · newspapers · books · scholar · JSTOR (September 2013) (Learn how and when to remo... | Autoimmune optic neuropathy | None | 6,464 | wikipedia | https://en.wikipedia.org/wiki/Autoimmune_optic_neuropathy | 2021-01-18T18:46:58 | {"wikidata": ["Q17080979"]} |
Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. These problems can affect both primary (baby) teeth and... | Dentinogenesis imperfecta | c0399380 | 6,465 | medlineplus | https://medlineplus.gov/genetics/condition/dentinogenesis-imperfecta/ | 2021-01-27T08:25:12 | {"gard": ["6258", "12796", "10144"], "mesh": ["D003784"], "omim": ["125420", "125490", "125500"], "synonyms": []} |
Radiation colitis
SpecialtyGastroenterology
CausesRadiation therapy
Radiation colitis is injury to the colon caused by radiation therapy.[1] It is usually associated with treatment for prostate cancer or cervical cancer.[1] Common symptoms are diarrhea, a feeling of being unable to empty the bowel,[2] gastro... | Radiation colitis | c0341339 | 6,466 | wikipedia | https://en.wikipedia.org/wiki/Radiation_colitis | 2021-01-18T18:57:39 | {"umls": ["C0341339"], "icd-10": ["K52.0"], "wikidata": ["Q2353003"]} |
Type 1 plasminogen deficiency is a genetic condition associated with inflammed growths on the mucous membranes, the moist tissues that line body openings such as the eye, mouth, nasopharynx, trachea, and female genital tract. The growths may be triggered by local injury and/or infection and often recur after removal.... | Type 1 plasminogen deficiency | c0398621 | 6,467 | gard | https://rarediseases.info.nih.gov/diseases/4380/type-1-plasminogen-deficiency | 2021-01-18T17:57:16 | {"mesh": ["C580017"], "omim": ["217090"], "umls": ["C0398621"], "orphanet": ["722"], "synonyms": ["Hypoplasminogenemia"]} |
Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.
## Epidemiology
Prevalence of RP is reported to be 1/3,000 to 1/5,000. No ethnic specificities have been reported alt... | Retinitis pigmentosa | c0035334 | 6,468 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=791 | 2021-01-23T17:13:41 | {"gard": ["5694"], "mesh": ["D012174"], "omim": ["180100", "180104", "180105", "180210", "268000", "268025", "268060", "300029", "300155", "300424", "300605", "312600", "312612", "400004", "600059", "600105", "600132", "600138", "600852", "601414", "601718", "602594", "602772", "604232", "604393", "606068", "607921", "... |
Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is mo... | Cystic leukoencephalopathy without megalencephaly | c2751843 | 6,469 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85136 | 2021-01-23T17:30:28 | {"mesh": ["C567845"], "omim": ["612951"], "umls": ["C2751843"], "icd-10": ["E75.2"], "synonyms": ["CLWM"]} |
A rare genetic neurovascular malformation characterized by sac-like bulging of cerebral arteries due to weakening of the endothelial layer. Familial occurrence is suspected when two or more affected first- to third-degree relatives are present in a family. Aneurysms may remain asymptomatic throughout life, or rupture... | Familial cerebral saccular aneurysm | c1862932 | 6,470 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=231160 | 2021-01-23T18:59:52 | {"mesh": ["C566284"], "omim": ["105800", "300870", "608542", "609122", "610213", "611892", "612161", "612162", "612586", "612587", "614252", "618734"], "icd-10": ["I67.1"], "synonyms": ["Familial berry aneurysm", "Familial intracranial saccular aneurysm"]} |
Legal since 1937
Abortion in Puerto Rico is legal. Attitudes and laws in Puerto Rico relating to abortion have been significantly impacted by decisions of the federal government of the United States. Abortion effectively became legal in 1937 after a series of changes in the law by the Puerto Rico legislature based o... | Abortion in Puerto Rico | None | 6,471 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_Puerto_Rico | 2021-01-18T18:54:51 | {"wikidata": ["Q64876951"]} |
Cerebral creatine deficiency
Other namesCCD
SpecialtyPediatrics, medical genetics, neurology
Symptomsintellectual disability, developmental delay, seziures
Usual onsetearly childhood
CausesGenetic
Diagnostic methodBlood, and urine tests, genetic testing, brain MRS
Treatmentdietary modification, crea... | Cerebral creatine deficiency | c0268238 | 6,472 | wikipedia | https://en.wikipedia.org/wiki/Cerebral_creatine_deficiency | 2021-01-18T18:55:27 | {"mesh": ["C536560"], "icd-10": ["E72.8"], "orphanet": ["79172"], "synonyms": ["CCDS", "CDS", "Cerebral creatine deficiency syndrome"], "wikidata": ["Q16908143"]} |
Group of conditions resulting from maternal alcohol consumption during pregnancy
"FASD" redirects here. For other uses, see FASD (disambiguation).
Fetal alcohol spectrum disorders
Other namesFoetal alcohol spectrum disorders
Baby with fetal alcohol syndrome, showing some of the characteristic facial features
... | Fetal alcohol spectrum disorder | c0814154 | 6,473 | wikipedia | https://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder | 2021-01-18T18:28:18 | {"mesh": ["D063647"], "icd-9": ["12"], "icd-10": ["Q86.0"], "orphanet": ["1915"], "wikidata": ["Q400277"]} |
A number sign (#) is used with this entry because of evidence that Seckel syndrome-6 (SCKL6) can be caused by homozygous mutation in the CEP63 gene (614724) on chromosome 3q22. One such family has been reported.
For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, se... | SECKEL SYNDROME 6 | c3553582 | 6,474 | omim | https://www.omim.org/entry/614728 | 2019-09-22T15:54:22 | {"omim": ["614728"]} |
Injury to the main nerve bundle in the back of humans
Spinal cord injury
MRI of fractured and dislocated neck vertebra that is compressing the spinal cord
SpecialtyNeurosurgery
TypesComplete, incomplete[1]
Diagnostic methodBased on symptoms, medical imaging[1]
TreatmentSpinal motion restriction, intravenou... | Spinal cord injury | c0037929 | 6,475 | wikipedia | https://en.wikipedia.org/wiki/Spinal_cord_injury | 2021-01-18T18:37:11 | {"mesh": ["D013119"], "umls": ["90058"], "icd-10": ["T09.3", "G95.9"], "orphanet": ["90058"], "wikidata": ["Q1415275"]} |
Sotos syndrome is a condition characterized mainly by distinctive facial features; overgrowth in childhood; and learning disabilities or delayed development. Facial features may include a long, narrow face; a high forehead; flushed (reddened) cheeks; a small, pointed chin; and down-slanting palpebral fissures. Af... | Sotos syndrome | c0175695 | 6,476 | gard | https://rarediseases.info.nih.gov/diseases/10091/sotos-syndrome | 2021-01-18T17:57:40 | {"mesh": ["D058495"], "omim": ["117550"], "umls": ["C0175695"], "orphanet": ["821"], "synonyms": ["Cerebral gigantism", "Distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development"]} |
Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body.
In some cases, Bartter syndrome becomes apparent before birth. The disorder can cause polyhydramnios, which is an increased volume of fluid surrounding the fetus... | Bartter syndrome | c0004775 | 6,477 | gard | https://rarediseases.info.nih.gov/diseases/5893/bartter-syndrome | 2021-01-18T18:01:53 | {"mesh": ["D001477"], "omim": ["601678", "241200", "607364", "602522", "613090"], "umls": ["C0004775"], "orphanet": ["112"], "synonyms": ["Potassium wasting", "Bartter's syndrome", "Hypokalemic alkalosis with hypercalciuria"]} |
Toluene toxicity
Chemical structure of toluene
SpecialtyEmergency medicine
Toluene toxicity refers to the harmful effects caused by toluene on the body.
## Contents
* 1 Metabolism in humans
* 2 Environmental influences
* 3 Measure of exposure
* 4 Effects of long-term exposure
* 5 References
* 6... | Toluene toxicity | None | 6,478 | wikipedia | https://en.wikipedia.org/wiki/Toluene_toxicity | 2021-01-18T18:52:57 | {"icd-10": ["T52.2"], "wikidata": ["Q3153686"]} |
Temtamy preaxial brachydactyly syndrome is a rare, genetic dysostosis syndrome characterized by bilateral, symmetrical, preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (incuding misali... | Temtamy preaxial brachydactyly syndrome | c1854466 | 6,479 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363417 | 2021-01-23T17:46:35 | {"gard": ["9679"], "mesh": ["C536958"], "omim": ["605282"], "umls": ["C1854466"], "icd-10": ["Q87.2"]} |
Often called "albino", this amelanistic python owes its yellow color to unaffected carotenoid pigments.
Amelanism (also known as amelanosis) is a pigmentation abnormality characterized by the lack of pigments called melanins, commonly associated with a genetic loss of tyrosinase function. Amelanism can affect fish, ... | Amelanism | None | 6,480 | wikipedia | https://en.wikipedia.org/wiki/Amelanism | 2021-01-18T18:35:51 | {"wikidata": ["Q4742182"]} |
Fusarium wilt
A tobacco plant suffering from Fusarium wilt
Causal agentsFusarium oxysporum
HostsTomato, tobacco, legumes, cucurbits, sweet potatoes and banana
EPPO CodeFUSAOX
Fusarium wilt is a common vascular wilt fungal disease, exhibiting symptoms similar to Verticillium wilt. This disease h... | Fusarium wilt | None | 6,481 | wikipedia | https://en.wikipedia.org/wiki/Fusarium_wilt | 2021-01-18T18:57:58 | {"wikidata": ["Q1475267"]} |
Rickettsiosis
SpecialtyInfectious disease
A rickettsiosis is a disease caused by intracellular bacteria.
## Contents
* 1 Cause
* 2 Diagnosis
* 3 Treatment
* 4 References
* 5 External links
## Cause[edit]
Rickettsioses can be divided into a spotted fever group (SPG) and typhus group (TG).[1]
In t... | Rickettsiosis | c0035585 | 6,482 | wikipedia | https://en.wikipedia.org/wiki/Rickettsiosis | 2021-01-18T19:08:18 | {"mesh": ["D012282", "D012288"], "icd-9": ["083", "083.9", "080"], "icd-10": ["A75", "A79"], "orphanet": ["102021"], "wikidata": ["Q646664"]} |
Chondrodermatitis nodularis chronica helicis
Other namesChondrodermatitis nodularis helicis[1]:782
Chondrodermatitis helicis nodularis in a 67-year-old man
SpecialtyDermatology
Chondrodermatitis nodularis chronica helicis is a small, nodular, tender, chronic inflammatory lesion occurring on the helix o... | Chondrodermatitis nodularis chronica helicis | c0271415 | 6,483 | wikipedia | https://en.wikipedia.org/wiki/Chondrodermatitis_nodularis_chronica_helicis | 2021-01-18T18:47:28 | {"wikidata": ["Q1076057"]} |
This article may be confusing or unclear to readers. Please help us clarify the article. There might be a discussion about this on the talk page. (January 2010) (Learn how and when to remove this template message)
Focal dermal hypoplasia
Other namesGoltz syndrome
This condition is inherited in an X-linke... | Focal dermal hypoplasia | c0016395 | 6,484 | wikipedia | https://en.wikipedia.org/wiki/Focal_dermal_hypoplasia | 2021-01-18T18:53:29 | {"gard": ["6457"], "mesh": ["D005489"], "umls": ["C0016395"], "icd-9": ["759.89"], "icd-10": ["Q82.8"], "orphanet": ["2092"], "wikidata": ["Q5463847"]} |
A number sign (#) is used with this entry because of evidence that some patients with Cohen syndrome have homozygous or compound heterozygous mutations in the COH1 gene (VPS13B; 607817) on chromosome 8q22.
Description
Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical f... | COHEN SYNDROME | c0265223 | 6,485 | omim | https://www.omim.org/entry/216550 | 2019-09-22T16:29:31 | {"mesh": ["C536438"], "omim": ["216550"], "orphanet": ["193"], "synonyms": ["Alternative titles", "COH", "HYPOTONIA, OBESITY, AND PROMINENT INCISORS", "PEPPER SYNDROME", "CHS1, FORMERLY"], "genereviews": ["NBK1482"]} |
Mastocytoma
Other namesMast cell tumor
Mast cell tumor cytology
SpecialtyOncology
A mastocytoma or mast cell tumor is a type of round-cell tumor consisting of mast cells. It is found in humans and many animal species; it also can refer to an accumulation or nodule of mast cells that resembles a tumor.
Mas... | Mastocytoma | c0024897 | 6,486 | wikipedia | https://en.wikipedia.org/wiki/Mastocytoma | 2021-01-18T19:10:19 | {"umls": ["C0024897"], "icd-9": ["238.5"], "wikidata": ["Q6785569"]} |
Abortion in Lithuania is legal and available on request until the twelfth week of pregnancy, and up to 22 weeks for medical reasons.[1] [2] While Lithuania was a Republic of the Soviet Union (as the Lithuanian Soviet Socialist Republic), abortions were regulated by the Government of the Soviet Union.[1]
## Histo... | Abortion in Lithuania | None | 6,487 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_Lithuania | 2021-01-18T18:32:09 | {"wikidata": ["Q16057982"]} |
For a discussion of genetic heterogeneity of multiple sclerosis (MS), see MS1 (126200).
Mapping
In a genomewide association study of 45 patients with multiple sclerosis and 195 controls in a genetically isolated Dutch population, Aulchenko et al. (2008) found an association between MS and the C allele of rs1049... | MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 4 | c2675476 | 6,488 | omim | https://www.omim.org/entry/612596 | 2019-09-22T16:01:01 | {"omim": ["612596"]} |
A number sign (#) is used with this entry because of evidence that meconium ileus can be caused by homozygous mutation in the GUCY2C gene (601330) on chromosome 12p.
Description
Meconium ileus refers to intestinal obstruction due to inspissated meconium in the distal ileum and cecum, which develops in utero and pre... | MECONIUM ILEUS | c2939175 | 6,489 | omim | https://www.omim.org/entry/614665 | 2019-09-22T15:54:35 | {"mesh": ["D000074270"], "omim": ["614665"], "icd-10": ["P76.0"], "orphanet": ["314376"], "synonyms": ["Meconium ileus due to guanylate cyclase 2C deficiency"]} |
A rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials w... | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation | c4707173 | 6,490 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=324611 | 2021-01-23T17:30:18 | {"icd-10": ["G60.0"], "synonyms": ["CMT2 due to KIF5A mutation"]} |
## Clinical Features
Asch and Myers (1976) described 5 males in 2 generations of a family with occipitofrontal head circumferences greater than 2 SD above the mean. All were neurologically and mentally normal. A maternal uncle of the first generation was said to have a large head. All were dolichocephalic. By sonog... | MACROCEPHALY, BENIGN FAMILIAL | c0220690 | 6,491 | omim | https://www.omim.org/entry/153470 | 2019-09-22T16:38:46 | {"mesh": ["C537717"], "omim": ["153470"], "synonyms": ["Alternative titles", "COLE-HUGHES SYNDROME"]} |
## Clinical Features
Smith (1972) documented 8 cases of midgut volvulus in 1 kindred. The propositus, his 2 sons and 3 daughters, and his 2 grandchildren demonstrated this midgut malrotation syndrome. The midgut volvulus caused great discomfort. Six of the affected had undergone a total of 24 operative procedures t... | VOLVULUS OF MIDGUT | c0221210 | 6,492 | omim | https://www.omim.org/entry/193250 | 2019-09-22T16:31:54 | {"mesh": ["C562456"], "omim": ["193250"], "synonyms": ["Alternative titles", "INTESTINAL MALROTATION, FAMILIAL"]} |
## Clinical Features
Lewkonia and Buxton (1973) described myositis in father and daughter. The daughter's illness resembled childhood dermatomyositis and progressed to systemic involvement with death less than 4 years after onset. The father's illness followed the course of adult polymyositis, with little evidence ... | MYOSITIS | c3888318 | 6,493 | omim | https://www.omim.org/entry/160750 | 2019-09-22T16:37:40 | {"doid": ["633"], "mesh": ["C000598744"], "omim": ["160750"], "icd-10": ["M60.9", "M60", "G72.49"], "synonyms": ["Alternative titles", "MYOPATHY, FAMILIAL IDIOPATHIC INFLAMMATORY"]} |
Congenital condition characterised by fusion of two or more vertebrae in the neck
Klippel-Feil syndrome
Other namesCongenital dystrophia brevicollis, cervical vertebral fusion syndrome
Woman with Klippel–Feil syndrome
Pronunciation
* /ˌklɪ.pəl ˈfaɪl/
SpecialtyPaediatrics, orthopaedics
SymptomsCervi... | Klippel–Feil syndrome | c0022738 | 6,494 | wikipedia | https://en.wikipedia.org/wiki/Klippel%E2%80%93Feil_syndrome | 2021-01-18T18:55:16 | {"gard": ["10280"], "mesh": ["D007714"], "umls": ["C0022738"], "orphanet": ["2345"], "wikidata": ["Q1774751"]} |
Smouldering myeloma
Other namesSmoldering myeloma, Smoldering multiple myeloma, Indolent myeloma or Asymptomatic myeloma
SpecialtyHematology/oncology
Smouldering myeloma, is a disease classified as intermediate in a spectrum of step-wise progressive diseases termed plasma cell dyscrasias. In this spectru... | Smouldering myeloma | c1531608 | 6,495 | wikipedia | https://en.wikipedia.org/wiki/Smouldering_myeloma | 2021-01-18T18:33:57 | {"mesh": ["D000075122"], "umls": ["C1531608"], "wikidata": ["Q17146000"]} |
A hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT).
## Epidemiology
The prevalence of Crigler-Najjar syndrome type 1 (CNS1) is unknown. Crigler-Najjar syndrome (CNS) has... | Crigler-Najjar syndrome type 1 | c0010324 | 6,496 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79234 | 2021-01-23T18:50:48 | {"gard": ["47"], "mesh": ["D003414", "C536212"], "omim": ["218800"], "umls": ["C0010324", "C2931131"], "icd-10": ["E80.5"], "synonyms": ["Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1", "Bilirubin-UGT deficiency type 1", "Hereditary unconjugated hyperbilirubinemia type 1", "UGT deficiency type ... |
A number sign (#) is used with this entry because of evidence that cone-rod dystrophy-11 (CORD11) is caused by heterozygous mutation in the RAXL1 gene (RAX2, 610362) on chromosome 19p13.
For a phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970.
Clinical Features
Yang... | CONE-ROD DYSTROPHY 11 | c3489532 | 6,497 | omim | https://www.omim.org/entry/610381 | 2019-09-22T16:04:37 | {"doid": ["0111018"], "mesh": ["D000071700"], "omim": ["120970", "610381"], "orphanet": ["1872"], "synonyms": []} |
Severe combined immunodeficiency (SCID) due to CTPS1 deficiency is a rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to ... | Severe combined immunodeficiency due to CTPS1 deficiency | c4014617 | 6,498 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=420573 | 2021-01-23T17:22:06 | {"omim": ["615897"], "icd-10": ["D81.2"], "synonyms": ["SCID due to CTPS1 deficiency"]} |
Pallister-Killian syndrome
Other namesTetrasomy 12p mosaicism, Pallister mosaic aneuploidy syndrome
Pallister–Killian syndrome (also tetrasomy 12p mosaicism or Pallister mosaic aneuploidy syndrome) is an extremely rare genetic disorder occurring in humans. Pallister–Killian occurs due to the presence of the an... | Pallister–Killian syndrome | c0265449 | 6,499 | wikipedia | https://en.wikipedia.org/wiki/Pallister%E2%80%93Killian_syndrome | 2021-01-18T19:04:08 | {"mesh": ["C538105"], "umls": ["C0265449"], "icd-9": ["758.5"], "icd-10": ["Q99.8"], "orphanet": ["884"], "wikidata": ["Q1425018"]} |
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