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Tarsal-carpal coalition syndrome is a rare, inherited bone disorder that affects primarily the hands and feet. Several individual bones make up each wrist (carpal bones) and ankle (tarsal bones). In tarsal-carpal coalition syndrome, the carpal bones fuse together, as do the tarsal bones, which causes stiffness and im... | Tarsal-carpal coalition syndrome | c1861306 | 6,800 | medlineplus | https://medlineplus.gov/genetics/condition/tarsal-carpal-coalition-syndrome/ | 2021-01-27T08:24:52 | {"gard": ["9225"], "mesh": ["C566089"], "omim": ["186570"], "synonyms": []} |
Pork–cat syndrome
SpecialtyImmunology
Pork–cat syndrome is an allergy to pork, usually after adolescence, that is caused by exposure to cats. Although first described in 1994,[1][2][3] it was first documented in the U.S. by Scott Commins and Thomas Platts-Mills during their research on alpha-gal allergy.[4]
I... | Pork–cat syndrome | None | 6,801 | wikipedia | https://en.wikipedia.org/wiki/Pork%E2%80%93cat_syndrome | 2021-01-18T18:51:33 | {"wikidata": ["Q30314380"]} |
A number sign (#) is used with this entry because of evidence that primary coenzyme Q10 deficiency-7 (COQ10D7) is caused by homozygous or compound heterozygous mutation in the COQ4 gene (612898) on chromosome 9q34.
Description
Primary coenzyme Q10 deficiency-7 is an autosomal recessive disorder resulting from m... | COENZYME Q10 DEFICIENCY, PRIMARY, 7 | c4225392 | 6,802 | omim | https://www.omim.org/entry/616276 | 2019-09-22T15:49:25 | {"doid": ["0070244"], "omim": ["616276"], "orphanet": ["457185"], "synonyms": ["COQ4-related neonatal encephalomyopathy"], "genereviews": ["NBK410087"]} |
A number sign (#) is used with this entry because Mowat-Wilson syndrome (MOWS) is caused by de novo heterozygous mutation in the ZEB2 gene (605802) on chromosome 2q22.
Description
Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null mutations present with m... | MOWAT-WILSON SYNDROME | c1856113 | 6,803 | omim | https://www.omim.org/entry/235730 | 2019-09-22T16:27:09 | {"doid": ["0060485"], "mesh": ["C536990"], "omim": ["235730"], "orphanet": ["2152", "261537", "261552"], "synonyms": ["Alternative titles", "MICROCEPHALY, MENTAL RETARDATION, AND DISTINCT FACIAL FEATURES, WITH OR WITHOUT HIRSCHSPRUNG DISEASE", "HIRSCHSPRUNG DISEASE-MENTAL RETARDATION SYNDROME"], "genereviews": ["NBK141... |
A number sign (#) is used with this entry because vascular-type Ehlers-Danlos syndrome (EDSVASC) is caused by heterozygous mutation in the COL3A1 gene (120180) on chromosome 2q32.
Biallelic mutation in the COL3A1 gene causes polymicrogyria with or without vascular EDS (PMGVEDS; 618343).
Description
The vascular ty... | EHLERS-DANLOS SYNDROME, VASCULAR TYPE | c0268338 | 6,804 | omim | https://www.omim.org/entry/130050 | 2019-09-22T16:41:48 | {"doid": ["14756"], "mesh": ["D004535"], "omim": ["130050"], "orphanet": ["286"], "synonyms": ["Alternative titles", "EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT", "EDS IV", "EHLERS-DANLOS SYNDROME, ARTERIAL TYPE", "EHLERS-DANLOS SYNDROME, ECCHYMOTIC TYPE", "EHLERS-DANLOS SYNDROME, SACK-BARABAS TYPE"], "generev... |
Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality.
## Epidemiology
Prevalence is unknown.
## Clinical description
Isolated congenital digital clubbing is often painless... | Isolated congenital digital clubbing | c0345408 | 6,805 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=217059 | 2021-01-23T17:27:29 | {"mesh": ["D010004"], "omim": ["119900"], "umls": ["C0345408"], "icd-10": ["Q68.1"], "synonyms": ["Isolated congenital acropachy", "Isolated congenital nail clubbing"]} |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome is a rare disorder that primarily affects the development of the brain. Affected individuals are born with an unusually large brain and head size (megalencephaly). The head and brain continue to grow rapidly during the first 2 years of life. MPPH... | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome | c1863924 | 6,806 | medlineplus | https://medlineplus.gov/genetics/condition/megalencephaly-polymicrogyria-polydactyly-hydrocephalus-syndrome/ | 2021-01-27T08:24:46 | {"gard": ["10341"], "mesh": ["C566381"], "omim": ["603387", "615937", "615938"], "synonyms": []} |
Giggle incontinence, giggle enuresis or enuresis risoria is the involuntary release of urine in response to giggling or laughter. The bladder may empty completely or only partially.[1]
Giggle incontinence is more common in children than adults, typically appearing at ages 5 to 7,[2] and is most common in girls near ... | Giggle incontinence | None | 6,807 | wikipedia | https://en.wikipedia.org/wiki/Giggle_incontinence | 2021-01-18T18:51:57 | {"wikidata": ["Q5560285"]} |
Diabetic retinopathy
Other namesdiabetic eye disease, DED
Image of fundus showing scatter laser surgery for diabetic retinopathy
Pronunciation
* ˌrɛtɪnˈɑpəθi[1]
SpecialtyOphthalmology
SymptomsMay have no symptoms; blurry vision, vision loss, blindness
CausesLong-term poor control of diabetes m... | Diabetic retinopathy | c0011884 | 6,808 | wikipedia | https://en.wikipedia.org/wiki/Diabetic_retinopathy | 2021-01-18T19:00:56 | {"mesh": ["D003930"], "umls": ["C0011884"], "icd-10": ["E10.3", "E11.3", "E14.3", "E12.3", "E13.3", "H36"], "wikidata": ["Q631361"]} |
A rare disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria.
## Epidemiology
Prevalence is unknown, but the disease is likely to be underdiagnosed as the hypocalcemia may remain asymp... | Autosomal dominant hypocalcemia | c3715128 | 6,809 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=428 | 2021-01-23T18:21:32 | {"gard": ["2877"], "omim": ["601198", "615361"], "icd-10": ["E20.8"], "synonyms": ["AD hypocalcemia"]} |
Early-onset myopathy with fatal cardiomyopathy (EOMFC) is an inherited muscle disease that affects the skeletal muscles, which are used for movement, and the heart (cardiac) muscle. This condition is characterized by skeletal muscle weakness that becomes apparent in early infancy. Affected individuals have delayed de... | Early-onset myopathy with fatal cardiomyopathy | c2673677 | 6,810 | medlineplus | https://medlineplus.gov/genetics/condition/early-onset-myopathy-with-fatal-cardiomyopathy/ | 2021-01-27T08:25:53 | {"mesh": ["C567129"], "omim": ["611705"], "synonyms": []} |
"Punch drunk" redirects here. For other uses, see Punch drunk (disambiguation).
Neurodegenerative disease caused by repeated head injuries
Chronic traumatic encephalopathy
Other namesTraumatic encephalopathy syndrome, dementia pugilistica,[1] punch drunk syndrome
A normal brain (left) and one with CTE (right) ... | Chronic traumatic encephalopathy | c4082769 | 6,811 | wikipedia | https://en.wikipedia.org/wiki/Chronic_traumatic_encephalopathy | 2021-01-18T19:01:29 | {"mesh": ["D000070627"], "icd-10": ["G93.8"], "wikidata": ["Q5114004"]} |
A number sign (#) is used with this entry because hereditary motor and sensory neuropathy type IIC (HMSN2C) is caused by heterozygous mutation in the TRPV4 gene (605427) on chromosome 12q24.
Congenital distal spinal muscular atrophy (600175) and scapuloperoneal spinal muscular atrophy (SPSMA; 181405) are allelic... | HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC | c1853710 | 6,812 | omim | https://www.omim.org/entry/606071 | 2019-09-22T16:10:50 | {"doid": ["0110182"], "mesh": ["C565261"], "omim": ["606071"], "orphanet": ["99937"], "synonyms": ["Alternative titles", "HMSN IIC", "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2C", "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2C"], "genereviews": ["NBK201366", "NBK1358"]} |
Genetic condition; specifically, the most common form of dwarfism
Achondroplasia
Jason "Wee Man" Acuña, an American actor and stunt performer with achondroplasia
Pronunciation
* /eɪˌkɒndrəˈpleɪziə, ə-, -ˈpleɪʒiə, -ˈpleɪʒə/[1][2]
SpecialtyMedical genetics
SymptomsShort arms and legs, enlarged head, pr... | Achondroplasia | c0001080 | 6,813 | wikipedia | https://en.wikipedia.org/wiki/Achondroplasia | 2021-01-18T18:41:24 | {"gard": ["8173"], "mesh": ["D000130"], "umls": ["C0001080"], "icd-9": ["756.4"], "orphanet": ["15"], "wikidata": ["Q340594"]} |
A number sign (#) is used with this entry because susceptibility to malignant hyperthermia-5 (MHS5) is caused by heterozygous mutation in the CACNA1S gene (114208) on chromosome 1q32.
For a phenotypic description and a discussion of genetic heterogeneity of malignant hyperthermia, see MHS1 (145600).
Mapping
In... | MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 | c0024591 | 6,814 | omim | https://www.omim.org/entry/601887 | 2019-09-22T16:14:10 | {"mesh": ["D008305"], "omim": ["601887"], "orphanet": ["423"], "synonyms": ["Alternative titles", "MHS5"], "genereviews": ["NBK1146"]} |
Neuroma
Solitary circumscribed neuroma
SpecialtyOncology
A neuroma (/njʊəˈroʊmə/; plural: neuromata or neuromas) is a growth or tumor of nerve tissue.[1] Neuromas tend to be benign (i.e. not cancerous); many nerve tumors, including those that are commonly malignant, are nowadays referred to by other terms.
... | Neuroma | c0027858 | 6,815 | wikipedia | https://en.wikipedia.org/wiki/Neuroma | 2021-01-18T18:49:22 | {"mesh": ["D009463"], "umls": ["C0027858", "C0273482"], "wikidata": ["Q1981345"]} |
Isovaleric acidemia (IVA) occurs when the body cannot breakdown certain parts of the proteins found in food. This can cause a build-up of toxic substances which can lead to bouts of serious illness known as metabolic crises. There are two types of IVA. The acute, neonatal type has more severe symptoms that begin ... | Isovaleric acidemia | c0268575 | 6,816 | gard | https://rarediseases.info.nih.gov/diseases/465/isovaleric-acidemia | 2021-01-18T17:59:42 | {"mesh": ["C538167"], "omim": ["243500"], "umls": ["C0268575"], "orphanet": ["33"], "synonyms": ["Isovaleric acid CoA dehydrogenase deficiency", "IVA", "Isovaleryl CoA carboxylase deficiency", "IVD deficiency"]} |
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. (August 2019)
Urticarial dermatoses are distinct from urticaria, which examples being drug-induced urticaria, eosinophilic cellulitis and bullous pemphigo... | Urticarial dermatoses | None | 6,817 | wikipedia | https://en.wikipedia.org/wiki/Urticarial_dermatoses | 2021-01-18T19:06:45 | {"wikidata": ["Q7901361"]} |
Ads for abortion clinics in East London, South Africa
Abortion in South Africa is legal on request in the first trimester of pregnancy, and in special circumstances afterwords. Abortion was legal only under very limited circumstances until 1 February 1997, when the Choice on Termination of Pregnancy Act (Act 92 ... | Abortion in South Africa | None | 6,818 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_South_Africa | 2021-01-18T18:32:38 | {"wikidata": ["Q859701"]} |
Automatic tachycardia
Junctional tachycardia (rate about 115/min) dissociated from a slightly slower sinus tachycardia (rate about 107/min). Junctional tachycardia is both an SVT and an automatic tachycardia
An automatic tachycardia is a cardiac arrhythmia which involves an area of the heart generating an ... | Automatic tachycardia | None | 6,819 | wikipedia | https://en.wikipedia.org/wiki/Automatic_tachycardia | 2021-01-18T19:05:57 | {"wikidata": ["Q28454409"]} |
Abarognosis
Other namesBaragnosis, baroagnosis[1]
Abarognosis () is type of cortical sensory defect[2] consisting of a loss of barognosis, the ability to detect the weight of an object held in the hand or to tell the difference in weight between two objects,[3] or more succinctly "Loss of the ability to se... | Abarognosis | None | 6,820 | wikipedia | https://en.wikipedia.org/wiki/Abarognosis | 2021-01-18T18:38:08 | {"wikidata": ["Q305575"]} |
A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in excess accumulation of fat in the face, neck, shoulders, axillae, trunk and pubic region, and loss of subcutaneous fat from the lower extremities. Variable common additional features are progressive adult onset myo... | LIPE-related familial partial lipodystrophy | c4014869 | 6,821 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=435660 | 2021-01-23T18:04:57 | {"omim": ["615980"], "icd-10": ["E88.1"], "synonyms": ["FPLD6", "LIPE-related FPLD"]} |
A rare, hereditary, pheochromocytoma/paraganglioma tumor arising from neuroendocrine chromaffin cells of the adrenal medulla (pheochromocytoma) or from any paraganglia from the skull base to the pelvic floor (paraganglioma). Clinical manifestations are often linked to excess catecholamines production causing sustaine... | Hereditary pheochromocytoma-paraganglioma | c1861848 | 6,822 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=29072 | 2021-01-23T18:45:26 | {"gard": ["11984"], "mesh": ["C565335"], "omim": ["115310", "168000", "171300", "601650", "605373", "614165", "618464", "618475"], "icd-10": ["C74.1", "C75.5", "D35.0", "D35.6"], "synonyms": ["Familial pheochromocytoma-paraganglioma"]} |
Plantar reflex
Babinski response/Babinski sign (pathological)
The reflex occurs upon stroking of the sole of the foot with a blunt object such as a pen. If the reflex occurs in adults as illustrated at bottom it may be due to nerve damage or disease.
ICD-9-CM796.1
MedlinePlus003294
The plantar refl... | Plantar reflex | c0750948 | 6,823 | wikipedia | https://en.wikipedia.org/wiki/Plantar_reflex | 2021-01-18T18:47:29 | {"mesh": ["D001405"], "wikidata": ["Q506923"]} |
A number sign (#) is used with this entry because of evidence that a mutation of the TNFRSF10B gene (603612.0001), alone or in combination with other genes, can cause squamous cell carcinoma of the head and neck. Mutations in the ING1 gene (601566) have been found in a small but significant number of cases of squ... | SQUAMOUS CELL CARCINOMA, HEAD AND NECK | c1168401 | 6,824 | omim | https://www.omim.org/entry/275355 | 2019-09-22T16:21:30 | {"doid": ["5520"], "mesh": ["D000077195"], "omim": ["275355"], "orphanet": ["502363", "494547", "494550", "500464", "502366", "500478", "500481"], "synonyms": ["Squamous cell carcinoma of the nasal cavity and sinuses"]} |
Benign familial neonatal seizures (BFNS) is a condition characterized by recurrent seizures in newborn babies. The seizures begin around day 3 of life and usually go away within 1 to 4 months. The seizures can involve only one side of the brain (focal seizures) or both sides (generalized seizures). Many infants with ... | Benign familial neonatal seizures | c2751195 | 6,825 | medlineplus | https://medlineplus.gov/genetics/condition/benign-familial-neonatal-seizures/ | 2021-01-27T08:25:42 | {"gard": ["1519"], "mesh": ["C567743"], "omim": ["121200", "121201"], "synonyms": []} |
## Summary
### Clinical characteristics.
MYH9-related disorders (MYH9RD) are characterized by large platelets (i.e., >40% of platelets >3.9 μm in diameter) and thrombocytopenia (platelet count <150 x 109/L), both of which are present from birth. MYH9RD is variably associated with young-adult onset of progressive se... | MYH9-Related Disorders | c1854520 | 6,826 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK2689/ | 2021-01-18T21:12:55 | {"mesh": ["C535507"], "synonyms": []} |
A number sign (#) is used with this entry because autosomal dominant dyskeratosis congenita-2 (DKCA2) and autosomal recessive dyskeratosis congenita-4 (DKCB4) are caused by heterozygous and homozygous or compound heterozygous mutation, respectively, in the TERT gene (187270) on chromosome 5p15.
Description
Dyskerat... | DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 | c1846142 | 6,827 | omim | https://www.omim.org/entry/613989 | 2019-09-22T15:56:47 | {"doid": ["0070016"], "mesh": ["C536068"], "omim": ["613989"], "orphanet": ["3322", "1775"], "genereviews": ["NBK22301"]} |
A number sign (#) is used with this entry because of evidence that cerebrooculofacioskeletal syndrome-3 (COFS3) is caused by homozygous mutation in the ERCC5 gene (133530) on chromosome 13q33.
Biallelic mutations in the ERCC5 gene can also cause Xeroderma pigmentosum, group G and/or Cockayne syndrome (278780).
Desc... | CEREBROOCULOFACIOSKELETAL SYNDROME 3 | c0009207 | 6,828 | omim | https://www.omim.org/entry/616570 | 2019-09-22T15:48:31 | {"mesh": ["D003057"], "omim": ["616570"], "orphanet": ["191", "1466"]} |
Pancolitis
This condition affects the large intestine.
Pancolitis, in its most general sense, refers to inflammation of the entire colon. This can be caused by a variety of things. Pancolitis or universal colitis is frequently used in a more specific fashion to denote a very severe form of ulcerative colitis. ... | Pancolitis | c0868908 | 6,829 | wikipedia | https://en.wikipedia.org/wiki/Pancolitis | 2021-01-18T19:02:09 | {"umls": ["C0868908"], "icd-9": ["556.6"], "icd-10": ["K51.0"], "wikidata": ["Q7130382"]} |
Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]... | Familial anetoderma | c4518793 | 6,830 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=228277 | 2021-01-23T19:04:30 | {"icd-10": ["L90.8"], "synonyms": ["Hereditary anetoderma", "Hereditary macular atrophy"]} |
Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.
## Epidemiology
The syndrome has been described in 10 children from five different... | Hypomyelination-congenital cataract syndrome | c1864663 | 6,831 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85163 | 2021-01-23T17:14:27 | {"gard": ["11980"], "mesh": ["C567166"], "omim": ["610532"], "umls": ["C1864663"], "icd-10": ["G37.8"]} |
Tricho–rhino–phalangeal syndrome type 2
Other namestrichorhinophalangeal syndrome with exostosis[1]
Tricho–rhino–phalangeal syndrome type 2 (also known as Langer-Giedion syndrome) is a genetic disorder consisting of fine and sparse scalp hair, thin nails, pear-shaped broad nose, and cone-shaped epiphyses of th... | Tricho–rhino–phalangeal syndrome type 2 | c0265255 | 6,832 | wikipedia | https://en.wikipedia.org/wiki/Tricho%E2%80%93rhino%E2%80%93phalangeal_syndrome_type_2 | 2021-01-18T19:06:35 | {"umls": ["C0265255"], "orphanet": ["324764"], "wikidata": ["Q3508794"]} |
Ectopic kidney
Other namesRenal ectopia
Ectopic crossed fused kidney in a fetus approx. 34 weeks
SpecialtyNephrology
Ectopic kidney describes a kidney that is not located in its usual position. It results from the kidney failing to ascend from its origin in the true pelvis or from a superiorly ascended... | Ectopic kidney | c0238207 | 6,833 | wikipedia | https://en.wikipedia.org/wiki/Ectopic_kidney | 2021-01-18T18:54:52 | {"umls": ["C0238207"], "icd-9": ["753.3"], "icd-10": ["Q63.2"], "wikidata": ["Q3718783"]} |
A sweat allergy is the exacerbation of atopic dermatitis associated with an elevated body temperature and resulting increases in the production of sweat. It appears as small reddish wheals that become visible in response to increased temperature and resulting production of sweat.[1] It can affect all ages. Sweati... | Sweat allergy | c1304346 | 6,834 | wikipedia | https://en.wikipedia.org/wiki/Sweat_allergy | 2021-01-18T18:40:35 | {"umls": ["C1304346"], "wikidata": ["Q2256746"]} |
A number sign (#) is used with this entry because of evidence that lethal congenital contracture syndrome-5 (LCCS5) is caused by homozygous mutation in the DNM2 gene (602378) on chromosome 19p13. One such family has been reported.
Heterozygous mutation in the DNM2 gene can also cause a form of autosomal dominant... | LETHAL CONGENITAL CONTRACTURE SYNDROME 5 | c3809272 | 6,835 | omim | https://www.omim.org/entry/615368 | 2019-09-22T15:52:26 | {"omim": ["615368"], "orphanet": ["363409"], "synonyms": ["MYOPATHY, CENTRONUCLEAR, LETHAL, AUTOSOMAL RECESSIVE", "Alternative titles", "LCCS5", "Lethal congenital contracture syndrome type 5"]} |
A number sign (#) is used with this entry because chronic lymphocytic leukemia (CLL) is associated with genetic and epigenetic changes in multiple genes.
Description
Chronic lymphocytic leukemia (CLL) is a common neoplasia of B lymphocytes in which these cells progressively accumulate in the bone marrow, blood, and... | LEUKEMIA, CHRONIC LYMPHOCYTIC | c0855095 | 6,836 | omim | https://www.omim.org/entry/151400 | 2019-09-22T16:39:03 | {"doid": ["1040"], "omim": ["151400"], "icd-9": ["204.1"], "icd-10": ["C91.1", "C91.10"], "orphanet": ["67038"], "synonyms": ["Alternative titles", "LEUKEMIA, CHRONIC LYMPHATIC"]} |
Trisomy 18p is an extremely rare chromosomal anomaly with a poorly defined clinical phenotype. Reported manifestations include short stature, mild, moderate or severe developmental delay and intellectual disability, variable but mild facial dysmorphism, and epilepsy.
*[v]: View this template
*[t]: Discuss this t... | Trisomy 18p | c2931811 | 6,837 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1715 | 2021-01-23T17:45:40 | {"gard": ["5323"], "mesh": ["C538307"], "umls": ["C2931811"], "icd-10": ["Q92.2"], "synonyms": ["Duplication 18p", "Duplication of the short arm of chromosome 18", "Trisomy of the short arm of chromosome 18"]} |
A number sign (#) is used with this entry because of evidence that spermatogenic failure-38 (SPGF38) is caused by homozygous mutation in the ARMC2 gene (618424) on chromosome 6q21.
For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Description
Spermatogenic failure-38 (SPGF38) ... | SPERMATOGENIC FAILURE 38 | None | 6,838 | omim | https://www.omim.org/entry/618433 | 2019-09-22T15:41:57 | {"omim": ["618433"]} |
For the common or slang use of imbecile, see Idiot.
The term imbecile was once used by psychiatrists to denote a category of people with moderate to severe intellectual disability, as well as a type of criminal.[1][2] The word arises from the Latin word imbecillus, meaning weak, or weak-minded.[3] It included people... | Imbecile | c0917816 | 6,839 | wikipedia | https://en.wikipedia.org/wiki/Imbecile | 2021-01-18T18:34:00 | {"mesh": ["D008607"], "wikidata": ["Q4200185"]} |
A number sign (#) is used with this entry because Fanconi renotubular syndrome-2 (FRTS2) is caused by homozygous mutation in the SLC34A1 gene (182309) on chromosome 5q35. One such family has been reported.
For a general phenotypic description and a discussion of genetic heterogeneity of Fanconi renotubular syndrome,... | FANCONI RENOTUBULAR SYNDROME 2 | c3150652 | 6,840 | omim | https://www.omim.org/entry/613388 | 2019-09-22T15:58:51 | {"doid": ["1062"], "omim": ["613388", "134600"], "orphanet": ["3337"], "synonyms": ["Primary Fanconi renotubular syndrome"]} |
A number sign (#) is used with this entry because of evidence that primary coenzyme Q10 deficiency-6 (COQ10D6) is caused by homozygous or compound heterozygous mutation in the COQ6 gene (614647) on chromosome 14q24.
For a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q1... | COENZYME Q10 DEFICIENCY, PRIMARY, 6 | c3553349 | 6,841 | omim | https://www.omim.org/entry/614650 | 2019-09-22T15:54:37 | {"doid": ["0070243"], "omim": ["614650"], "orphanet": ["280406"], "synonyms": [], "genereviews": ["NBK410087"]} |
Non-alcoholic fatty liver disease (NAFLD) is a buildup of excessive fat in the liver that can lead to liver damage resembling the damage caused by alcohol abuse, but that occurs in people who do not drink heavily. The liver is a part of the digestive system that helps break down food, store energy, and remove waste p... | Non-alcoholic fatty liver disease | c2750441 | 6,842 | medlineplus | https://medlineplus.gov/genetics/condition/non-alcoholic-fatty-liver-disease/ | 2021-01-27T08:25:21 | {"gard": ["6430"], "omim": ["613282", "613387"], "synonyms": []} |
A number sign (#) is used with this entry because neonatal Bartter syndrome type 4B with sensorineural deafness (BARTS4B) is caused by simultaneous mutation in both the CLCNKA (602024) and CLCNKB (602023) genes.
Description
Bartter syndrome refers to a group of disorders that are unified by autosomal recessive tran... | BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS | c0004775 | 6,843 | omim | https://www.omim.org/entry/613090 | 2019-09-22T15:59:53 | {"doid": ["0110146"], "mesh": ["D001477"], "omim": ["613090"], "orphanet": ["89938", "112"], "synonyms": ["Bartter syndrome type 4", "Bartter syndrome type IV"]} |
Aspartylglucosaminuria
Other namesGlycosylasparaginase deficiency[1]
Autosomal recessive is the inheritance pattern of this condition
SpecialtyMedical genetics, endocrinology
Aspartylglucosaminuria (AGU) is an inherited disease that is characterized by a decline in mental functioning, accompanied by an inc... | Aspartylglucosaminuria | c2931840 | 6,844 | wikipedia | https://en.wikipedia.org/wiki/Aspartylglucosaminuria | 2021-01-18T18:38:43 | {"gard": ["5854"], "mesh": ["D054880", "C538402"], "umls": ["C2931840"], "orphanet": ["93"], "wikidata": ["Q4412533"]} |
A rare genetic autoinflammatory syndrome characterized by early-onset of repeated episodes of fever, nodular neutrophil-rich panniculitis, arthralgia, and lipodystrophy. Additional reported features include diarrhea, failure to thrive, lymphadenopathy, and vasculitis. Laboratory examination may reveal elevated se... | Infantile-onset periodic fever-panniculitis-dermatosis syndrome | c4310614 | 6,845 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=500062 | 2021-01-23T18:01:32 | {"omim": ["617099"], "icd-10": ["E85.0"], "synonyms": ["ORAS", "OTULIN deficiency", "OTULIN-related autoinflammatory syndrome", "Otulipenia"]} |
A number sign (#) is used with this entry because of evidence that Nestor-Guillermo progeria syndrome is caused by homozygous mutation in the BANF1 gene (603811) on chromosome 11q13.
Clinical Features
Puente et al. (2011) studied a consanguineous Spanish family in which the 31-year-old male proband exhibited an aty... | NESTOR-GUILLERMO PROGERIA SYNDROME | c3151446 | 6,846 | omim | https://www.omim.org/entry/614008 | 2019-09-22T15:56:47 | {"omim": ["614008"], "orphanet": ["280576"], "synonyms": ["NGPS", "Alternative titles", "PROGERIA SYNDROME, CHILDHOOD-ONSET, WITH OSTEOLYSIS"]} |
Lassa fever (LF) is a potentially severe viral hemorrhagic disease caused by Lassa virus and characterized by initial fever and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock and multi-organ system failure.
## Epidemiology
LF is endemic in West Africa. Lack of surveillance prohi... | Lassa fever | c0023092 | 6,847 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99824 | 2021-01-23T18:19:38 | {"mesh": ["D007835"], "umls": ["C0023092"], "icd-10": ["A96.2"], "synonyms": ["LF", "Lassa hemorrhagic fever"]} |
A number sign (#) is used with this entry because of evidence that Antley-Bixler syndrome with disordered steroidogenesis (ABS1) is caused by homozygous or compound heterozygous mutation in the gene encoding cytochrome P450 oxidoreductase (POR; 124015) on chromosome 7q11.
A form of Antley-Bixler syndrome with normal... | ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS | c3150099 | 6,848 | omim | https://www.omim.org/entry/201750 | 2019-09-22T16:31:27 | {"doid": ["0050462"], "omim": ["201750"], "orphanet": ["63269"], "synonyms": ["Ambiguous genitalia-disordered steroidogenesis Antley-Bixler-like syndrome", "Antley-Bixler syndrome type 2", "Antley-Bixler syndrome, POR-related"], "genereviews": ["NBK1419"]} |
A number sign (#) is used with this entry because the phenotype, which is characterized by postnatal progressive microcephaly, seizures, and brain atrophy, is caused by homozygous mutation in the MED17 gene (603810) on chromosome 11.
Clinical Features
Kaufmann et al. (2010) reported 5 infants from 4 Jewish families... | MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY | c3150921 | 6,849 | omim | https://www.omim.org/entry/613668 | 2019-09-22T15:58:01 | {"doid": ["0111262"], "omim": ["613668"], "orphanet": ["402364"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that neurodevelopmental disorder with midbrain and hindbrain malformations (NEDMHM) is caused by homozygous mutation in the ARHGEF2 gene (607560) on chromosome 1q22. One such family has been reported.
Clinical Features
Ravindran et al. (2017) reported 2 ... | NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS | c4479613 | 6,850 | omim | https://www.omim.org/entry/617523 | 2019-09-22T15:45:44 | {"omim": ["617523"]} |
A number sign (#) is used with this entry because familial thrombotic thrombocytopenic purpura (TTP) is caused by mutation in the ADAMTS13 gene (604134), which encodes the von Willebrand factor (VWF; 613160)-cleaving protease (VWFCP).
See 235400 for a discussion of the hemolytic-uremic syndrome (HUS), which has sign... | THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL | c0034155 | 6,851 | omim | https://www.omim.org/entry/274150 | 2019-09-22T16:21:44 | {"doid": ["10772"], "mesh": ["D011697"], "omim": ["274150"], "orphanet": ["54057", "93583"], "synonyms": ["Alternative titles", "MICROANGIOPATHIC HEMOLYTIC ANEMIA", "THROMBOTIC MICROANGIOPATHY, FAMILIAL", "UPSHAW-SCHULMAN SYNDROME", "SCHULMAN-UPSHAW SYNDROME", "UPSHAW FACTOR, DEFICIENCY OF", "MICROANGIOPATHIC HEMOLYTIC... |
A number sign (#) is used with this entry because of evidence that early infantile epileptic encephalopathy-59 (EIEE59) is caused by heterozygous mutation in the GABBR2 gene (607340) on chromosome 9q22.
For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350).
Clini... | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59 | c2748910 | 6,852 | omim | https://www.omim.org/entry/617904 | 2019-09-22T15:44:27 | {"doid": ["0080291"], "mesh": ["C567576"], "omim": ["617904"], "orphanet": ["3095"]} |
## Description
The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFFD2 is an autosomal dominant disorder characterized by bitemporal skin lesions with variable facial findings, including thin ... | FOCAL FACIAL DERMAL DYSPLASIA 2, BRAUER-SETLEIS TYPE | c1744559 | 6,853 | omim | https://www.omim.org/entry/614973 | 2019-09-22T15:53:34 | {"mesh": ["C536385"], "omim": ["614973"], "orphanet": ["398173", "398166"], "synonyms": ["Alternative titles", "BRAUER-SETLEIS SYNDROME"]} |
For other uses, see Abortion (disambiguation).
Ending of a pregnancy before a fetus can survive outside the uterus
Abortion
Other namesInduced miscarriage, termination of pregnancy
SpecialtyObstetrics and gynecology
ICD-10-PCSO04
ICD-9-CM779.6
MeSHD000028
MedlinePlus007382
[edit on Wikidata]
A... | Abortion | c0000790 | 6,854 | wikipedia | https://en.wikipedia.org/wiki/Abortion | 2021-01-18T18:29:32 | {"mesh": ["D000028"], "icd-9": ["779.6"], "icd-10": ["O04"], "wikidata": ["Q8452"]} |
Beutler et al. (1980) described a woman and all of her 3 children with a small population of markedly distorted red blood cells resembling keratocytes. Red cell life span was normal, and the severely deformed cells appeared to represent the senescent population. The trait appeared to be benign. The mother's ances... | WORONETS TRAIT | c1860237 | 6,855 | omim | https://www.omim.org/entry/194320 | 2019-09-22T16:31:44 | {"omim": ["194320"]} |
A rare fetal lower urinary tract obstruction (LUTO) characterized by closure or failure to develop an opening in the urethra and resulting in obstructive uropathy presenting in utero as megacystis, oligohydramnios or anhydramnios, and potter sequence.
## Epidemiology
Prevalence is unknown, but is higher in males th... | Atresia of urethra | c1610065 | 6,856 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=105 | 2021-01-23T17:37:45 | {"umls": ["C0345345", "C1610065"], "icd-10": ["Q64.3"], "synonyms": ["Urethral atresia"]} |
Frontotemporal lobar degeneration
Neuropathologic analysis of brain tissue from FTLD-TDP patients. Ubiquitin immunohistochemistry in cases of familial FTLD-TDP demonstrates staining of (a) neurites and neuronal cytoplasmic inclusions in the superficial cerebral neocortex, (b) neuronal cytoplasmic inclusions in hipp... | Frontotemporal lobar degeneration | c0751072 | 6,857 | wikipedia | https://en.wikipedia.org/wiki/Frontotemporal_lobar_degeneration | 2021-01-18T19:01:26 | {"mesh": ["D057174"], "wikidata": ["Q18579"]} |
Orthostatic hypertension
Other namesPostural hypertension
Orthostatic hypertension is a medical condition consisting of a sudden and abrupt increase in blood pressure when a person stands up.[1] Orthostatic hypertension is diagnosed by a rise in systolic blood pressure of 20 mmHg or more when standing. Ort... | Orthostatic hypertension | c0544618 | 6,858 | wikipedia | https://en.wikipedia.org/wiki/Orthostatic_hypertension | 2021-01-18T19:00:47 | {"umls": ["C0544618"], "wikidata": ["Q7104927"]} |
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 2017) (Learn how and when to remove this template message)
Optic pit
Optic disc(# 18) ... | Optic pit | c0155298 | 6,859 | wikipedia | https://en.wikipedia.org/wiki/Optic_pit | 2021-01-18T18:47:03 | {"umls": ["C0155298"], "wikidata": ["Q7098795"]} |
A number sign (#) is used with this entry because BCKDK deficiency is caused by homozygous mutation in the BCKDK (614901) gene on chromosome 16p11.
Clinical Features
Novarino et al. (2012) studied 3 consanguineous families with autism, epilepsy, intellectual disability, and reduced branched-chain amino acids (BCAAs... | BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY | c3554078 | 6,860 | omim | https://www.omim.org/entry/614923 | 2019-09-22T15:53:47 | {"doid": ["0090126"], "omim": ["614923"], "orphanet": ["308410"], "synonyms": ["BCKDK DEFICIENCY", "Alternative titles"]} |
Abdallat Davis Farrage syndrome
Abdallat–Davis–Farrage syndrome has an autosomal recessive pattern of inheritance.
SpecialtyNeurology
Abdallat–Davis–Farrage syndrome is a form of phakomatosis, a disease of the central nervous system accompanied by skin abnormalities. It is characterized by the out of the ord... | Abdallat–Davis–Farrage syndrome | c0796019 | 6,861 | wikipedia | https://en.wikipedia.org/wiki/Abdallat%E2%80%93Davis%E2%80%93Farrage_syndrome | 2021-01-18T19:07:12 | {"gard": ["336"], "mesh": ["C536859"], "umls": ["C0796019"], "orphanet": ["101003"], "wikidata": ["Q4664694"]} |
Retinitis pigmentosa is a group of related eye disorders that cause progressive vision loss. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with retinitis pigmentosa, vision loss occurs as the light-sensing cells of the retina gradually deteriorat... | Retinitis pigmentosa | c0035334 | 6,862 | medlineplus | https://medlineplus.gov/genetics/condition/retinitis-pigmentosa/ | 2021-01-27T08:24:33 | {"gard": ["10790", "5694"], "mesh": ["D012174"], "omim": ["268000"], "synonyms": []} |
Bruns nystagmus is an unusual type of bilateral nystagmus most commonly occurring in patients with cerebellopontine angle tumours. It is caused by the combination of slow, large amplitude nystagmus (gaze paretic nystagmus) when looking towards the side of the lesion, and rapid, small amplitude nystagmus (vestibular n... | Bruns nystagmus | c1321324 | 6,863 | wikipedia | https://en.wikipedia.org/wiki/Bruns_nystagmus | 2021-01-18T18:40:42 | {"wikidata": ["Q4979462"]} |
Potentially fatal complication of pregnancy
Amniotic fluid embolism
SpecialtyObstetrics
Pathophysiology of the amniotic fluid embolism
An amniotic fluid embolism (AFE) is a very uncommon childbirth (obstetric) emergency in which amniotic fluid enters the blood stream of the mother to trigger a serious reacti... | Amniotic fluid embolism | c0013927 | 6,864 | wikipedia | https://en.wikipedia.org/wiki/Amniotic_fluid_embolism | 2021-01-18T18:28:02 | {"mesh": ["D004619"], "icd-9": ["673.1"], "icd-10": ["O88.1"], "wikidata": ["Q1470833"]} |
Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that oft... | Chromosome 1p deletion | c0795796 | 6,865 | gard | https://rarediseases.info.nih.gov/diseases/3730/chromosome-1p-deletion | 2021-01-18T18:01:23 | {"mesh": ["C535591"], "umls": ["C0795796"], "synonyms": ["Deletion 1p", "Monosomy 1p", "1p deletion", "1p monosomy", "Partial monosomy 1p"]} |
## Summary
### Clinical characteristics.
UNC80 deficiency is characterized by hypotonia, strabismus, oral motor dysfunction, postnatal growth deficiency, and developmental delay. The majority of individuals do not learn to walk. All individuals lack expressive language; however, many have expressive body language, ... | UNC80 Deficiency | None | 6,866 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK453434/ | 2021-01-18T20:51:53 | {"synonyms": []} |
CLN11 disease is a disorder that primarily affects the nervous system. Individuals with this condition typically show signs and symptoms in adolescence or early adulthood. This condition is characterized by recurrent seizures (epilepsy), vision loss, problems with balance and coordination (cerebellar ataxia), and a d... | CLN11 disease | c3539123 | 6,867 | medlineplus | https://medlineplus.gov/genetics/condition/cln11-disease/ | 2021-01-27T08:24:57 | {"omim": ["614706"], "synonyms": []} |
## Summary
### Clinical characteristics.
L1 syndrome involves a phenotypic spectrum ranging from severe to mild and includes three clinical phenotypes:
* X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS)
* MASA (mental retardation [intellectual disability], aphasia [delayed speech], spast... | L1 Syndrome | c0795953 | 6,868 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1484/ | 2021-01-18T21:15:37 | {"mesh": ["C536029"], "synonyms": ["L1 Disease"]} |
Couvelaire uterus
SpecialtyObstetrics
Couvelaire uterus (also known as uteroplacental apoplexy)[1] is a life-threatening condition in which loosening of the placenta (abruptio placentae) causes bleeding that penetrates into the uterine myometrium forcing its way into the peritoneal cavity.
## Contents
* 1 ... | Couvelaire uterus | c0221379 | 6,869 | wikipedia | https://en.wikipedia.org/wiki/Couvelaire_uterus | 2021-01-18T18:52:52 | {"umls": ["C0221379"], "icd-9": ["641.2"], "icd-10": ["O45.8"], "wikidata": ["Q5178867"]} |
Glycoproteinosis
SpecialtyEndocrinology
Glycoproteinosis are lysosomal storage diseases[1] affecting glycoproteins, resulting from defects in lysosomal function. The term is sometimes reserved for conditions involving degradation of glycoproteins.[2]
## Types[edit]
* (E77.0) Defects in post-translation... | Glycoproteinosis | c0026697 | 6,870 | wikipedia | https://en.wikipedia.org/wiki/Glycoproteinosis | 2021-01-18T18:35:25 | {"gard": ["10670"], "mesh": ["D009081"], "umls": ["C0026697"], "icd-9": ["271", "272.7"], "icd-10": ["E77.1"], "orphanet": ["309279"], "wikidata": ["Q2019832"]} |
## Summary
### Clinical characteristics.
SYNGAP1-related intellectual disability (SYNGAP1-ID) is characterized by developmental delay (DD) or intellectual disability (ID) (100% of affected individuals), generalized epilepsy (~84%), and autism spectrum disorder (ASD) and other behavioral abnormalities (≤50%). To... | SYNGAP1-Related Intellectual Disability | None | 6,871 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK537721/ | 2021-01-18T20:57:29 | {"synonyms": ["SYNGAP1-Related Developmental and Epileptic Encephalopathy"]} |
Methylmalonic acidemia with homocystinuria is an inherited disorder in which the body is unable to properly process certain nutrients from food including amino acids, lipids and cholesterol. People with this disorder have a combination of features from two separate conditions: methylmalonic acidemia and homocystinuri... | Methylmalonic acidemia with homocystinuria | c1848561 | 6,872 | gard | https://rarediseases.info.nih.gov/diseases/3579/methylmalonic-acidemia-with-homocystinuria | 2021-01-18T17:59:07 | {"mesh": ["C537359"], "umls": ["C1848561"], "orphanet": ["26"], "synonyms": ["Methylmalonic acidemia and homocystinemia"]} |
Dacryocystitis - osteopoikilosis is an exceedingly rare autosomal dominant disorder reported in only a few patients to date and is characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedradiologically as discrete spherical osteosclerotic lesions of 2-10mm in diameter).
*[v... | Dacryocystitis-osteopoikilosis syndrome | c1833698 | 6,873 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1562 | 2021-01-23T19:03:41 | {"gard": ["351"], "mesh": ["C536061"], "omim": ["166705"], "umls": ["C1833698"], "synonyms": ["Gunal-Seber-Basaran syndrome"]} |
A number sign (#) is used with this entry because hypogonadotropic hypogonadism-20 with or without anosmia (HH20) can be caused by heterozygous mutation in the FGF17 gene (603725) on chromosome 8p21, sometimes in association with mutations in other genes, e.g., FGFR1 (136350), HS6ST1 (604846), and FLRT3 (604808).
De... | HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA | c0162809 | 6,874 | omim | https://www.omim.org/entry/615270 | 2019-09-22T15:52:43 | {"doid": ["0090082"], "mesh": ["D017436"], "omim": ["615270"], "orphanet": ["432", "478"], "synonyms": ["Gonadotropic deficiency", "Isolated congenital gonadotropin deficiency", "Normosmic idiopathic hypogonadotropic hypogonadism", "nIHH"], "genereviews": ["NBK1334"]} |
In a brother and sister from one family and a girl from a second, unrelated family, Partington and Anderson (1994) described a seemingly new syndrome comprising pre- and postnatal growth deficiency, developmental delay, a friendly personality, microcephaly, and a distinctive facial appearance marked by thick eyebrows... | PARTINGTON-ANDERSON SYNDROME | c1850075 | 6,875 | omim | https://www.omim.org/entry/260555 | 2019-09-22T16:23:37 | {"mesh": ["C536299"], "omim": ["260555"], "orphanet": ["2829"]} |
## Description
Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine a... | CELIAC DISEASE, SUSCEPTIBILITY TO, 12 | c2677602 | 6,876 | omim | https://www.omim.org/entry/612010 | 2019-09-22T16:02:33 | {"omim": ["612010"], "synonyms": ["Alternative titles", "GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 12"]} |
## Clinical Features
Majewski et al. (1982) reported a male infant with a 'new' form of microcephalic primordial dwarfism, then called osteodysplastic bird-headed dwarfism. Features were intrauterine growth retardation (as in the other forms), alopecia, microcephaly, receding forehead and chin, large eyes, and larg... | MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III | c1859439 | 6,877 | omim | https://www.omim.org/entry/210730 | 2019-09-22T16:30:23 | {"mesh": ["C537320"], "omim": ["210730"], "orphanet": ["2636"], "synonyms": ["Alternative titles", "MOPD, SICILIAN FAIRY TYPE", "MOPD III", "MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, CAROLINE CRACHAMI TYPE", "MOPD types I and III", "Taybi-Linder syndrome", "Primordial microcephalic dwarfism, Crachami type", "M... |
Nerve damaging injury
Neurotmesis (in Greek tmesis signifies "to cut") is part of Seddon's classification scheme used to classify nerve damage. It is the most serious nerve injury in the scheme. In this type of injury, both the nerve and the nerve sheath are disrupted. While partial recovery may occur, complete reco... | Neurotmesis | c1142379 | 6,878 | wikipedia | https://en.wikipedia.org/wiki/Neurotmesis | 2021-01-18T18:51:26 | {"mesh": ["D020196"], "umls": ["C1142379"], "wikidata": ["Q1786745"]} |
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: "Gingival and periodontal pocket" – news · newspapers · books · scholar · JSTOR (May 2016) (Learn how and when to re... | Gingival and periodontal pocket | None | 6,879 | wikipedia | https://en.wikipedia.org/wiki/Gingival_and_periodontal_pocket | 2021-01-18T19:02:15 | {"wikidata": ["Q1059860"]} |
Carney complex is a disorder characterized by an increased risk of several types of tumors. Affected individuals also usually have changes in skin coloring (pigmentation). Signs and symptoms of this condition commonly begin in the teens or early adulthood.
Individuals with Carney complex are at increased risk of... | Carney complex | c2607929 | 6,880 | medlineplus | https://medlineplus.gov/genetics/condition/carney-complex/ | 2021-01-27T08:25:21 | {"gard": ["1119"], "mesh": ["D056733"], "omim": ["160980"], "synonyms": []} |
A rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed... | Pemphigus erythematosus | c0263312 | 6,881 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79480 | 2021-01-23T17:19:34 | {"umls": ["C0263312"], "icd-10": ["L10.4"], "synonyms": ["Seborrheic pemphigus", "Senear-Usher syndrome"]} |
A number sign (#) is used with this entry because of evidence that ovarian dysgenesis-5 (ODG5) is caused by homozygous mutation in the SOHLH1 gene (610224) on chromosome 9q34.
For a general phenotypic description and a discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 (233300).
Clinical Features
... | OVARIAN DYSGENESIS 5 | c4540141 | 6,882 | omim | https://www.omim.org/entry/617690 | 2019-09-22T15:45:09 | {"omim": ["617690"]} |
A number sign (#) is used with this entry because of evidence that monilethrix is caused by heterozygous mutation in the hair cortex keratin genes KRTHB1 (KRT81; 602153), KRTHB6 (KRT86; 601928), and KRTHB3 (KRT83; 602765).
Description
Individuals with monilethrix have normal hair at birth, but within the first few ... | MONILETHRIX | c0546966 | 6,883 | omim | https://www.omim.org/entry/158000 | 2019-09-22T16:38:01 | {"doid": ["0050472"], "mesh": ["D056734"], "omim": ["158000"], "icd-10": ["Q84.1"], "orphanet": ["573"]} |
A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pi... | Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency | c3809339 | 6,884 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=352563 | 2021-01-23T17:54:23 | {"gard": ["12892"], "omim": ["615395"], "icd-10": ["E88.8"], "synonyms": ["COXPD16", "Combined oxidative phosphorylation defect type 16"]} |
Upset stomach
"Dyspepsia" redirects here. For the Negativland album, see Dispepsi.
Indigestion
Other namesDyspepsia
SpecialtyGastroenterology
SymptomsUpper abdominal pain[1]
FrequencyCommon[1]
Indigestion, also known as dyspepsia or upset stomach, is a condition of impaired digestion.[2] Symptoms may i... | Indigestion | c0013395 | 6,885 | wikipedia | https://en.wikipedia.org/wiki/Indigestion | 2021-01-18T18:35:35 | {"mesh": ["D004415"], "umls": ["C0013395"], "icd-9": ["536.8"], "wikidata": ["Q653971"]} |
A number sign (#) is used with this entry because this form of congenital cerebellar ataxia with mental retardation (CAMRQ3) is caused by homozygous mutation in the CA8 gene (114815) on chromosome 8q12.
Description
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heter... | CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3 | c0394006 | 6,886 | omim | https://www.omim.org/entry/613227 | 2019-09-22T15:59:18 | {"doid": ["0050997"], "omim": ["613227"], "orphanet": ["1766"], "synonyms": ["Alternative titles", "CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3"]} |
The Hudson–Stahli line is a line of iron deposition lying roughly on the border between the middle and lower thirds of the cornea.[1]:321 It lies in the corneal epithelium. Usually it has about 0.5 mm in thickness and is 1–2 mm long. It is generally horizontal, with possible mild downward trend in the middle. It is p... | Hudson–Stahli line | c0271276 | 6,887 | wikipedia | https://en.wikipedia.org/wiki/Hudson%E2%80%93Stahli_line | 2021-01-18T18:47:03 | {"umls": ["C0271276"], "wikidata": ["Q4262207"]} |
A number sign (#) is used with this entry because of evidence that congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD) is caused by heterozygous mutation in the CDK13 gene (603309) on chromosome 7p14.
Clinical Features
Sifrim et al. (2016) reported 7 unrelated... | CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER | c4479246 | 6,888 | omim | https://www.omim.org/entry/617360 | 2019-09-22T15:46:02 | {"omim": ["617360"], "genereviews": ["NBK536784"]} |
## Summary
### Clinical characteristics.
VPS13D movement disorder is a hyperkinetic movement disorder (dystonia, chorea, and/or ataxia) of variable age of onset that can be associated with developmental delay. Onset ranges from birth to adulthood. Individuals can present in childhood with motor delays and gait inst... | VPS13D Movement Disorder | c0087012 | 6,889 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK537720/ | 2021-01-18T20:50:57 | {"mesh": ["D020754"], "synonyms": ["Spinocerebellar Ataxia", "Recessive", "Type 4 (SCAR4); Spinocerebellar Ataxia with Saccadic Intrusion (SCASI); VPS13D Hyperkinetic Movement Disorder"]} |
A rare, epithelial tumor of the pancreas characterized, histologically, by columnar, mucin-producing epithelium associated with ovarian-type subepithelial stroma, which does not communicate with the pancreatic ductal system, most frequently localized to the body or tail of the pancreas. Clinically, small tumors (<3 c... | Mucinous cystadenocarcinoma of the pancreas | c2063873 | 6,890 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=424053 | 2021-01-23T18:04:14 | {"umls": ["C2063873"], "icd-10": ["C25.0", "C25.1", "C25.2", "C25.7", "C25.8"], "synonyms": ["Pancreatic mucinous cystadenocarcinoma"]} |
Human disease
Postpartum infections
Other namesPuerperal fever, childbed fever, maternal sepsis, maternal infection, puerperal infections
Streptococcus pyogenes (red-stained spheres) is responsible for many cases of severe puerperal fever. (900× magnification)
SpecialtyObstetrics
SymptomsFever, lower abdomin... | Postpartum infections | c0034041 | 6,891 | wikipedia | https://en.wikipedia.org/wiki/Postpartum_infections | 2021-01-18T19:08:53 | {"mesh": ["D011645"], "icd-9": ["672", "672.0"], "icd-10": ["O85"], "wikidata": ["Q1419347"]} |
Corneal opacity
Other namesCorneal scarring
Corneal opacity with neovascularization
SpecialtyOphthalmology
SymptomsLoss of vision
ComplicationsBlindness
Usual onsetCongenital or acquired
TreatmentCorneal transplantation
Frequency4th main cause of blindness globally (5.1%).[1]
The human cornea... | Corneal opacity | c0010038 | 6,892 | wikipedia | https://en.wikipedia.org/wiki/Corneal_opacity | 2021-01-18T18:45:25 | {"mesh": ["D003318"], "umls": ["C0010038"], "wikidata": ["Q21110038"]} |
A number sign (#) is used with this entry because autosomal recessive deafness-23 (DFNB23) is caused by homozygous mutation in the gene encoding protocadherin-15 (PCDH15; 605514) on chromosome 10q21.
Mutation in the PCDH15 gene can also cause Usher syndrome type IF (602083).
Clinical Features
Ahmed et al. (200... | DEAFNESS, AUTOSOMAL RECESSIVE 23 | c1836027 | 6,893 | omim | https://www.omim.org/entry/609533 | 2019-09-22T16:05:57 | {"doid": ["0110481"], "mesh": ["C563705"], "omim": ["609533"], "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"], "genereviews": ["NBK14... |
Univentricular heart (UVH) is a severe congenital cardiac malformation characterized by both atria related entirely or almost entirely to one functionally single ventricular chamber. The clinical manifestations include congestive heart failure, failure to thrive, cyanosis, hypoxemia and neurodevelopmental disabilitie... | Univentricular heart | c0152424 | 6,894 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1464 | 2021-01-23T17:54:00 | {"icd-10": ["Q20.4"], "synonyms": ["Double inlet left ventricle"]} |
## Summary
### Clinical characteristics.
The classic phenotype of megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by early-onset macrocephaly, often in combination with mild gross motor developmental delay and seizures; gradual onset of ataxia, spasticity, and sometimes extrapyrami... | Megalencephalic Leukoencephalopathy with Subcortical Cysts | c1858854 | 6,895 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1535/ | 2021-01-18T21:11:49 | {"mesh": ["C536141"], "synonyms": ["Van der Knaap Disease"]} |
A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.
## Epidemiology
LCMN has a prevalence of about 1/20,000, while G... | Large congenital melanocytic nevus | c1318558 | 6,896 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=626 | 2021-01-23T18:39:10 | {"gard": ["2469"], "omim": ["137550"], "umls": ["C1318558", "C1842036"], "icd-10": ["Q82.5"], "synonyms": ["Congenital pigmented nevus", "GMN", "Giant congenital melanocytic nevus", "Giant pigmented hairy nevus", "LCMN"]} |
Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA; see this term) and that later on is clinically differentiated by neurologic symptom... | Hyperphenylalaninemia due to tetrahydrobiopterin deficiency | c0751435 | 6,897 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=238583 | 2021-01-23T17:44:57 | {"gard": ["7751"], "mesh": ["D010661"], "omim": ["233910", "261630", "261640", "264070"], "umls": ["C0751435", "C0751436"], "icd-10": ["E70.1"], "synonyms": ["Hyperphenylalaninemia due to BH4 deficiency", "Non-phenylketonuric hyperphenylalaninemia"]} |
Diastasis symphysis pubis
Post traumatic diastasis of symphysis pubis
SpecialtyOrthopaedic
Diastasis symphysis pubis is the separation of normally joined pubic bones, as in the dislocation of the bones, without a fracture. Separation of the symphysis pubis can occur spontaneously in at least 1 in 800 vaginal... | Diastasis symphysis pubis | c0238442 | 6,898 | wikipedia | https://en.wikipedia.org/wiki/Diastasis_symphysis_pubis | 2021-01-18T18:37:04 | {"mesh": ["D046548"], "wikidata": ["Q5272095"]} |
Neonatal meningitis
The meninges
SpecialtyNeonatology
Neonatal meningitis is a serious medical condition in infants that is rapidly fatal if untreated. Meningitis is an inflammation of the meninges, the protective membranes of the central nervous system, is more common in the neonatal period (infants les... | Neonatal meningitis | c0456107 | 6,899 | wikipedia | https://en.wikipedia.org/wiki/Neonatal_meningitis | 2021-01-18T18:49:46 | {"gard": ["10440"], "wikidata": ["Q6993489"]} |
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