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A number sign (#) is used with this entry because autosomal dominant mental retardation-29 (MRD29) is caused by heterozygous mutation in the SETBP1 gene (611060) on chromosome 18q12.
Clinical Features
Coe et al. (2014) reported 9 patients, including 1 reported by Rauch et al. (2012), with frameshift or nonsense... | MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 | c4015141 | 3,700 | omim | https://www.omim.org/entry/616078 | 2019-09-22T15:50:00 | {"doid": ["0070059"], "omim": ["616078"], "orphanet": ["436151"], "synonyms": ["Intellectual disability-loss of expressive language-facial dysmorphism syndrome"]} |
A number sign (#) is used with this entry because of evidence that Warburg Micro syndrome-3 (WARBM3) is caused by homozygous or compound heterozygous mutation in the RAB18 gene (602207) on chromosome 10p12.
Description
Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, micr... | WARBURG MICRO SYNDROME 3 | c1838625 | 3,701 | omim | https://www.omim.org/entry/614222 | 2019-09-22T15:56:00 | {"doid": ["0110718"], "mesh": ["C536681"], "omim": ["614222"], "orphanet": ["2510"], "synonyms": ["Alternative titles", "MICRO SYNDROME 3"], "genereviews": ["NBK475670"]} |
A rare non-Langerhans cell histiocytosis characterized by infiltration of lymph nodes or extranodal tissues by non-malignant histiocytes displaying emperipolesis, a non-destructive phagocytosis of lymphocytes or erythrocytes. Most typical presentation is as a massive cervical lymphadenopathy in adolescents and young ... | Rosaï-Dorfman disease | c0019625 | 3,702 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=158014 | 2021-01-23T18:44:26 | {"gard": ["7588"], "mesh": ["D015618"], "icd-10": ["D76.3"], "synonyms": ["Destombes-Rosaï-Dorfman disease", "Rosaï-Dorfman-Destombes disease", "SHML", "Sinus histiocytosis with massive lymphadenopathy"]} |
Blister beetle dermatitis
SpecialtyDermatology
Blister beetle dermatitis is a cutaneous condition that occurs after contact with any of several types of beetles, including those from the Meloidae and Oedemeridae families.[1]:449 Blister beetles secrete an irritant called cantharidin, a vesicant that can get on... | Blister beetle dermatitis | c0275108 | 3,703 | wikipedia | https://en.wikipedia.org/wiki/Blister_beetle_dermatitis | 2021-01-18T18:53:42 | {"umls": ["C0275108"], "wikidata": ["Q4158999"]} |
Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset.
## Epidemiology
The exact prevalence is unknown, but is estima... | Hereditary sensory and autonomic neuropathy type 1 | c0020071 | 3,704 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=36386 | 2021-01-23T17:49:16 | {"gard": ["6635"], "mesh": ["D009477"], "omim": ["162400", "613640", "613708", "615632"], "umls": ["C0020071"], "icd-10": ["G60.8"], "synonyms": ["HSAN1", "Hereditary sensory and autonomic neuropathy type I"]} |
Infantile systemic hyalinosis
Other namesJuvenile systemic hyalinosis
Infantile systemic hyalinosis is inherited in an autosomal recessive manner.
SpecialtyDermatology, medical genetics
Infantile systemic hyalinosis is an allelic autosomal-recessive condition characterized by multiple skin nodules, hyaline... | Infantile systemic hyalinosis | c2745948 | 3,705 | wikipedia | https://en.wikipedia.org/wiki/Infantile_systemic_hyalinosis | 2021-01-18T18:45:05 | {"mesh": ["D057770"], "orphanet": ["2176"], "synonyms": [], "wikidata": ["Q6029067"]} |
Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.
## Epidemiology
Prevalence and incidence are not known. 150 patients have be... | Nijmegen breakage syndrome | c0398791 | 3,706 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=647 | 2021-01-23T18:57:20 | {"gard": ["3904"], "mesh": ["C531759", "D049932"], "omim": ["251260"], "umls": ["C0398791", "C2930831"], "icd-10": ["Q87.8"], "synonyms": ["AT V1", "Ataxia-telangiectasia, variant 1", "Berlin breakage syndrome", "Immunodeficiency-microcephaly-chromosomal instability syndrome", "Microcephaly-immunodeficiency-lymphoretic... |
A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bo... | Acromesomelic dysplasia, Hunter-Thompson type | c2930970 | 3,707 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=968 | 2021-01-23T18:43:05 | {"gard": ["506"], "mesh": ["C535658"], "omim": ["201250"], "umls": ["C2930970"], "icd-10": ["Q78.8"], "synonyms": ["Acromesomelic dwarfism"]} |
A number sign (#) is used with this entry because of evidence that Oguchi disease-1 (CSNBO1) is caused by homozygous or compound heterozygous mutation in the arrestin gene (SAG; 181031) on chromosome 2q37.
Description
Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness in whic... | OGUCHI DISEASE 1 | c1306122 | 3,708 | omim | https://www.omim.org/entry/258100 | 2019-09-22T16:24:08 | {"doid": ["0110712"], "mesh": ["C537743"], "omim": ["258100"], "orphanet": ["75382"], "synonyms": ["Alternative titles", "NIGHT BLINDNESS, CONGENITAL STATIONARY, OGUCHI TYPE 1"]} |
Italian conjoined twins
Lazarus and his brother Joannes Baptista in a contemporary etching.
Lazarus Colloredo and Joannes Baptista Colloredo (1617 – after 1646) were Italian conjoined twins who toured freak shows in 17th-century Europe. They were born in Genoa, Italy.
The upper body and left leg of Joannes Baptist... | Lazarus and Joannes Baptista Colloredo | None | 3,709 | wikipedia | https://en.wikipedia.org/wiki/Lazarus_and_Joannes_Baptista_Colloredo | 2021-01-18T18:47:20 | {"wikidata": ["Q1393097"]} |
Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis (see this term), 15-40 years after recovery from the diseas... | Postpoliomyelitis syndrome | c0080040 | 3,710 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2942 | 2021-01-23T17:02:07 | {"gard": ["4454"], "mesh": ["D016262"], "umls": ["C0080040"], "icd-10": ["G14"], "synonyms": ["Postpolio sequelae", "Postpolio syndrome", "Postpoliomyelitic syndrome", "Postpoliomyelitis sequelae"]} |
An umbrella term covering two types of dementia
Lewy body dementias (LBDs, or Lewy body disorders) describe two similar common dementias that are characterized by changes in thinking, movement, behavior, and mood.[1] They are dementia with Lewy bodies (DLB), and Parkinson's disease dementia (PDD).[2][3][4][5]
Lewy ... | Lewy body dementias | c1851958 | 3,711 | wikipedia | https://en.wikipedia.org/wiki/Lewy_body_dementias | 2021-01-18T18:58:32 | {"gard": ["3243"], "mesh": ["D020961", "C565078"], "umls": ["C1851958", "C1851957"], "orphanet": ["1648"], "wikidata": ["Q1331905"]} |
A rare subtype of pyoderma gangrenosum characterized by multiple painful, sterile pustules with a surrounding erythematous halo, predominantly occurring on the trunk and extensor surfaces of the limbs, and potentially persisting for months. Histopathology shows a dermal neutrophilic infiltrate and subcorneal neut... | Pustular pyoderma gangrenosum | None | 3,712 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=538866 | 2021-01-23T16:53:07 | {"icd-10": ["L88"]} |
Rare autoinflammatory condition
STING-associated vasculopathy with onset in infancy
Autosomal dominant pattern is the inheritance manner of this condition
SpecialtyMedical genetics
CausesMutations in the TMEM173 gene
STING-associated vasculopathy with onset in infancy (SAVI[1]) is a rare autoinflammatory ... | STING-associated vasculopathy with onset in infancy | c4014722 | 3,713 | wikipedia | https://en.wikipedia.org/wiki/STING-associated_vasculopathy_with_onset_in_infancy | 2021-01-18T18:30:33 | {"gard": ["12357"], "umls": ["C4014722"], "orphanet": ["425120"], "wikidata": ["Q55784812"]} |
## Description
Splenogonadal fusion (SGF) is a rare congenital anomaly of abnormal fusion between the spleen and the gonad or the remnants of the mesonephros. In 'continuous SGF,' there is a cord-like connection between the 2 organs, whereas in 'discontinuous SGF,' there is fusion of accessory splenic tissue an... | SPLENOGONADAL FUSION WITH LIMB DEFECTS AND MICROGNATHIA | c1866745 | 3,714 | omim | https://www.omim.org/entry/183300 | 2019-09-22T16:34:29 | {"mesh": ["C537318"], "omim": ["183300"], "orphanet": ["2063"], "synonyms": ["Alternative titles", "SPLENOGONADAL FUSION LIMB DEFECT SYNDROME", "SGFLD SYNDROME"]} |
## Clinical Features
Say and Meyer (1981) observed trigonocephaly in 3 males in 3 maternally related sibships, consistent with X-linked recessive inheritance. Autosomal dominant inheritance with low expressivity in women could not be excluded. The oldest of the 3, aged 30, was 162 cm tall and was moderately mentall... | TRIGONOCEPHALY WITH SHORT STATURE AND DEVELOPMENTAL DELAY | c1839125 | 3,715 | omim | https://www.omim.org/entry/314320 | 2019-09-22T16:17:10 | {"mesh": ["C536620"], "omim": ["314320"], "orphanet": ["3369"], "synonyms": ["Alternative titles", "SAY-MEYER SYNDROME"]} |
Alcoholic polyneuropathy
Other namesAlcohol leg
An illustration of a neuron's structure. In alcoholic polyneuropathy myelin loss and axonal degeneration occurs.
SpecialtyNeurology
Alcoholic polyneuropathy is a neurological disorder in which peripheral nerves throughout the body malfunction simultaneously. ... | Alcoholic polyneuropathy | c0085677 | 3,716 | wikipedia | https://en.wikipedia.org/wiki/Alcoholic_polyneuropathy | 2021-01-18T18:31:33 | {"mesh": ["D020269"], "umls": ["C0085677"], "wikidata": ["Q4062508"]} |
A number sign (#) is used with this entry because familial spinal neurofibromatosis is caused by heterozygous mutation in the neurofibromin gene (NF1; 613113) on chromosome 17q11.
Description
Spinal neurofibromatosis is an autosomal dominant disorder characterized by a high load of spinal tumors. These tumors m... | NEUROFIBROMATOSIS, FAMILIAL SPINAL | c0027831 | 3,717 | omim | https://www.omim.org/entry/162210 | 2019-09-22T16:37:27 | {"doid": ["8712", "0111253"], "mesh": ["D009456"], "omim": ["162210"], "orphanet": ["636"], "synonyms": ["Alternative titles", "FSNF"]} |
A number sign (#) is used with this entry because evidence suggests that spinocerebellar ataxia-8 (SCA8) is caused by bidirectional transcription at the SCA8 locus on chromosome 13q21 involving both an expanded CTG trinucleotide repeat in the ATXN8OS gene (603680.0001) and the complementary CAG repeat in the ATXN8 ge... | SPINOCEREBELLAR ATAXIA 8 | c1837454 | 3,718 | omim | https://www.omim.org/entry/608768 | 2019-09-22T16:07:19 | {"doid": ["0050959"], "mesh": ["C537307"], "omim": ["608768"], "orphanet": ["98760"], "genereviews": ["NBK1268"]} |
Dastani et al. (2006) investigated 13 multigenerational French Canadian families in which multiple members had plasma levels of high density lipoprotein cholesterol (HDLC) less than the tenth percentile of population studies. Genomewide linkage analysis yielded a parametric 2-point lod score of 4.6 on chromosome 4q31... | HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 4 | c1853253 | 3,719 | omim | https://www.omim.org/entry/610239 | 2019-09-22T16:04:53 | {"omim": ["610239"], "synonyms": ["Alternative titles", "HDLCQ4"]} |
## Clinical Features
Waters and West (1995) described a lethal congenital nonspherocytic, nonimmune hemolytic anemia associated with abnormalities of the external genitalia, flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes in 2 brothers. The birth of these ... | HEMOLYTIC ANEMIA, LETHAL CONGENITAL NONSPHEROCYTIC, WITH GENITAL AND OTHER ABNORMALITIES | c1838120 | 3,720 | omim | https://www.omim.org/entry/600461 | 2019-09-22T16:16:12 | {"mesh": ["C563935"], "omim": ["600461"], "orphanet": ["1046"]} |
Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.
## Epidemiology
Only 4 cases have been reported in the literature to date.
## Clinical ... | Lathosterolosis | c1846421 | 3,721 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=46059 | 2021-01-23T18:14:57 | {"gard": ["9711"], "mesh": ["C537880"], "omim": ["607330"], "umls": ["C1846421"], "icd-10": ["Q87.8"], "synonyms": ["Sterol C5-desaturase deficiency"]} |
Malignant hyperthermia (MH) is a severe reaction to certain gases used during anesthesia and/or a muscle relaxant used to temporarily paralyze a person during surgery. Signs and symptoms of MH include marked hyperthermia, a rapid heart rate, rapid breathing, acidosis, muscle rigidity, and breakdown of muscle tissue (... | Malignant hyperthermia | c0024591 | 3,722 | gard | https://rarediseases.info.nih.gov/diseases/6964/malignant-hyperthermia | 2021-01-18T17:59:16 | {"mesh": ["D008305"], "orphanet": ["423"], "synonyms": ["MH", "Anesthesia related hyperthermia", "Malignant hyperpyrexia", "Fulminating hyperpyrexia", "Pharmacogenic myopathy", "Hyperpyrexia malignant", "Hyperthermia of anesthesia", "Malignant hyperthermia of anesthesia"]} |
Neural tube defect in which the brain is exposed
Cranioschisis (Greek: κρανιον kranion, "skull", and σχίσις schisis, "split"), or dysraphism, is a neural tube defect involving the skull. In this defect, the cranium fails to close completely (especially at the occipital region). Thus, the brain is exposed to the amni... | Cranioschisis | c0265541 | 3,723 | wikipedia | https://en.wikipedia.org/wiki/Cranioschisis | 2021-01-18T18:57:37 | {"mesh": ["D009421"], "umls": ["C0265541"], "wikidata": ["Q5182152"]} |
## Inheritance
Linder (1949) examined 104 men and 70 women and found the ability to move the ears in 54% and 22%, respectively. The frequency of the trait among sibs of probands was 47% and among parents was 74%. However, in 5 of 24 cases both parents lacked the trait, leading Linder (1949) to suggest that the ... | EARS, ABILITY TO MOVE | c1851889 | 3,724 | omim | https://www.omim.org/entry/129100 | 2019-09-22T16:42:00 | {"omim": ["129100"]} |
Parasystole
SpecialtyCardiology
Parasystole is a kind of arrhythmia caused by the presence and function of a secondary pacemaker in the heart, which works in parallel with the SA node. Parasystolic pacemakers are protected from depolarization by the SA node by some kind of entrance block. This block can be com... | Parasystole | c0206068 | 3,725 | wikipedia | https://en.wikipedia.org/wiki/Parasystole | 2021-01-18T18:56:26 | {"mesh": ["D017574"], "wikidata": ["Q3494080"]} |
Familial hypertrophic cardiomyopathy (HCM) is an inherited heart condition characterized by thickening of the heart muscle. The thickening most often occurs in the muscle wall that separates the left and right ventricles from each other (interventricular septum). This may restrict the flow of oxygen-rich blood fr... | Familial hypertrophic cardiomyopathy | c0949658 | 3,726 | gard | https://rarediseases.info.nih.gov/diseases/7229/familial-hypertrophic-cardiomyopathy | 2021-01-18T18:00:35 | {"mesh": ["D024741"], "synonyms": ["Cardiomyopathy familial hypertrophic", "Heritable hypertrophic cardiomyopathy", "Familial HCM"]} |
A number sign (#) is used with this entry because of evidence that fatal infantile cardioencephalomyopathy due to cytochrome c oxidase (COX) deficiency-4 (CEMCOX4) is caused by homozygous or compound heterozygous mutation in the COA6 gene (614772) on chromosome 1q42.
For a general phenotypic description and a discus... | CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4 | c1858424 | 3,727 | omim | https://www.omim.org/entry/616501 | 2019-09-22T15:48:40 | {"doid": ["0080360"], "mesh": ["C565784"], "omim": ["616501"], "orphanet": ["1561"]} |
Chromosome 13q duplication is a chromosome abnormality that occurs when there is an extra (duplicated) copy of genetic material on the long arm (q) of chromosome 13. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that ... | Chromosome 13q duplication | c0795849 | 3,728 | gard | https://rarediseases.info.nih.gov/diseases/1929/chromosome-13q-duplication | 2021-01-18T18:01:25 | {"mesh": ["C535485"], "umls": ["C0795849"], "synonyms": ["Duplication 13q", "Trisomy 13q", "13q duplication", "13q trisomy", "Partial trisomy 13q"]} |
A number sign (#) is used with this entry because of evidence that neonatal intractable myoclonus (NEIMY) is caused by heterozygous mutation in the KIF5A gene (602821) on chromosome 12q13.
Description
Neonatal intractable myoclonus is a severe neurologic disorder characterized by the onset of intractable myoclonic ... | MYOCLONUS, INTRACTABLE, NEONATAL | c4310658 | 3,729 | omim | https://www.omim.org/entry/617235 | 2019-09-22T15:46:24 | {"omim": ["617235"]} |
## Summary
### Clinical characteristics.
The phenotypic spectrum of X-linked hypophosphatemia (XLH) ranges from isolated hypophosphatemia to severe lower-extremity bowing. XLH frequently manifests in the first two years of life when lower-extremity bowing becomes evident with the onset of weight bearing; however, i... | X-Linked Hypophosphatemia | c0733682 | 3,730 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK83985/ | 2021-01-18T20:48:25 | {"mesh": ["D053098"], "synonyms": ["XLHR", "X-Linked Hypophosphatemic Rickets", "X-Linked Vitamin D-Resistant Rickets"]} |
Majeed syndrome is characterized by recurrent episodes of fever and inflammation in the bones and skin. The two main features of this condition are chronic recurrent multifocal osteomyelitis (CRMO) and congenital dyserythropoietic anemia (CDA). CRMO causes recurrent episodes of pain and joint swelling which can lead ... | Majeed syndrome | c1864997 | 3,731 | gard | https://rarediseases.info.nih.gov/diseases/10088/majeed-syndrome | 2021-01-18T17:59:16 | {"mesh": ["C537839"], "omim": ["609628"], "umls": ["C1864997"], "orphanet": ["77297"], "synonyms": ["Chronic recurrent multifocal osteomyelitis, congenital", "Dyserythropoietic anemia, and neutrophilic dermatosis", "Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis", "CDA and CRMO"]} |
Black pod disease
Common namesBlack pod disease of cocoa
Causal agentsPhytophthora palmivora
Phytophthora megakarya
Hostscocoa (Theobroma cacao)
EPPO CodePHYTPL
Black pod disease is a protozoal disease of Cocoa trees. This pathogen if left untreated can destroy all yields; annually the pathogen can cau... | Black pod disease | None | 3,732 | wikipedia | https://en.wikipedia.org/wiki/Black_pod_disease | 2021-01-18T18:29:23 | {"wikidata": ["Q17115915"]} |
## Description
Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant genodermatosis characterized by irregularly shaped, asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes the face. ... | DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 2 | c1306229 | 3,733 | omim | https://www.omim.org/entry/612715 | 2019-09-22T16:00:43 | {"doid": ["0060304"], "omim": ["612715"], "orphanet": ["241"]} |
## Clinical Features
Fryns et al. (1996) presented the clinical and radiologic findings in a newborn male with severe micromelic dwarfism, short neck, short and narrow upper thorax, and brachydactyly. At the age of 1 year, mental development was slightly retarded. Radiographically, severe vertebral segmentation def... | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MICROMELIC | c1832800 | 3,734 | omim | https://www.omim.org/entry/601096 | 2019-09-22T16:15:24 | {"mesh": ["C537556"], "omim": ["601096"], "synonyms": ["Alternative titles", "SEMD, MICROMELIC", "DWARFISM, MICROMELIC, WITH CONE EPIPHYSES, METAPHYSEAL DYSPLASIA, AND VERTEBRAL SEGMENTATION DEFECTS"]} |
A number sign (#) is used with this entry because of evidence that congenital anomalies of the kidney and urinary tract-3 (CAKUT3) is caused by heterozygous mutation in the NRIP1 gene (602490) on chromosome 21q11-q21. One such family has been reported.
For a discussion of genetic heterogeneity of CAKUT, see 610805.
... | CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3 | None | 3,735 | omim | https://www.omim.org/entry/618270 | 2019-09-22T15:42:45 | {"omim": ["618270"]} |
## Description
The autoimmune thyroid disorders, or AITDs, comprise 2 related disorders, Graves disease (GD; 275000) and Hashimoto thyroiditis (HT; 140300). See 608173.
Mapping
Sakai et al. (2001) undertook a genomewide analysis of 123 Japanese sib pairs affected with AITD. At 19 regions on 14 chromosomes, the mu... | AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 2 | c1842445 | 3,736 | omim | https://www.omim.org/entry/608174 | 2019-09-22T16:08:12 | {"omim": ["608174"], "synonyms": ["Alternative titles", "AITD2"]} |
Illness featuring muscle tenderness and rhabdomyolysis after consuming quail that have fed on poisonous plants
Coturnism
Coturnix coturnix
SpecialtyToxicology
Coturnism is an illness featuring muscle tenderness and rhabdomyolysis[1] (muscle cell breakdown) after consuming quail (usually common quail, Coturn... | Coturnism | None | 3,737 | wikipedia | https://en.wikipedia.org/wiki/Coturnism | 2021-01-18T18:31:36 | {"wikidata": ["Q5175885"]} |
Lymphedema-distichiasis syndrome is a condition that affects the normal function of the lymphatic system, which is a part of the circulatory and immune systems. The lymphatic system produces and transports fluids and immune cells throughout the body. People with lymphedema-distichiasis syndrome develop puffiness ... | Lymphedema-distichiasis syndrome | c0265345 | 3,738 | medlineplus | https://medlineplus.gov/genetics/condition/lymphedema-distichiasis-syndrome/ | 2021-01-27T08:24:49 | {"gard": ["333"], "mesh": ["C537710"], "omim": ["153400"], "synonyms": []} |
A rare syndrome characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.
*[v]: View this template
*[t... | Mesomelic dwarfism-cleft palate-camptodactyly syndrome | c2930871 | 3,739 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2631 | 2021-01-23T17:39:44 | {"gard": ["3552"], "mesh": ["C535294"], "omim": ["249710"], "umls": ["C2930871"], "icd-10": ["Q78.8"], "synonyms": ["Mesomelic dysplasia, Kozlowski-Reardon type", "Mesomelic dysplasia, Reardon type", "Reardon-Hall-Slaney syndrome"]} |
Bark-binding is a disease in trees, cured by slitting the bark, or cutting it along the grain of the tree.
## Further reading[edit]
* Trees portal
* This article incorporates text from a publication now in the public domain: Chambers, Ephraim, ed. (1728). "Bark-binding". Cyclopædia, or an Universal Dictionary ... | Bark-binding | None | 3,740 | wikipedia | https://en.wikipedia.org/wiki/Bark-binding | 2021-01-18T18:40:41 | {"wikidata": ["Q4860854"]} |
A rare organic aciduria characterized by increased urinary excretion of 3-methylglutaconic acid, variably associated with neutropenia (sometimes causing recurrent severe infections and potentially resulting in leukemia) and progressive neurologic manifestations, such as global developmental delay, intellectual di... | 3-methylglutaconic aciduria type 7 | c4225393 | 3,741 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=445038 | 2021-01-23T19:09:23 | {"omim": ["616271"], "icd-10": ["E71.1"], "synonyms": ["3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome", "MGA7"]} |
Membranous glomerulonephritis
Micrograph of membranous nephropathy showing prominent glomerular basement membrane spikes. Jones' stain.
SpecialtyNephrology
Membranous glomerulonephritis (MGN) is a slowly progressive disease of the kidney affecting mostly people between ages of 30 and 50 years, usually Caucas... | Membranous glomerulonephritis | c0017665 | 3,742 | wikipedia | https://en.wikipedia.org/wiki/Membranous_glomerulonephritis | 2021-01-18T18:44:09 | {"gard": ["9180"], "mesh": ["D015433"], "umls": ["C0017665"], "icd-9": ["583.1"], "wikidata": ["Q1713037"]} |
A rare mitochondrial disease characterized by a distinctive MRI pattern of cavitating leukodystrophy, predominantly in the posterior region of the cerebral hemispheres. The clinical picture varies widely between acute neurometabolic decompensation in infancy with loss of developmental milestones, seizures, and py... | Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy | None | 3,743 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=436271 | 2021-01-23T17:44:53 | {"icd-10": ["G93.4"]} |
Barraquer–Simons syndrome
Other namesAcquired partial lipodystrophy,[1] Cephalothoracic lipodystrophy,[1] and Progressive lipodystrophy[1]
SpecialtyEndocrinology
Barraquer–Simons syndrome is a rare form of lipodystrophy, which usually first affects the head, and then spreads to the thorax.[2][3] It is named ... | Barraquer–Simons syndrome | c0220989 | 3,744 | wikipedia | https://en.wikipedia.org/wiki/Barraquer%E2%80%93Simons_syndrome | 2021-01-18T18:37:33 | {"gard": ["10509"], "mesh": ["C562448"], "umls": ["C0220989"], "icd-9": ["272.6"], "icd-10": ["E88.1"], "orphanet": ["79087"], "wikidata": ["Q4863247"]} |
A number sign (#) is used with this entry because Cenani-Lenz syndactyly syndrome (CLSS) is caused by homozygous or compound heterozygous mutation in the LRP4 gene (604270) on chromosome 11p11.
Clinical Features
Cenani and Lenz (1967) described 2 brothers with a form of syndactyly resembling that of Apert syndr... | CENANI-LENZ SYNDACTYLY SYNDROME | c1859309 | 3,745 | omim | https://www.omim.org/entry/212780 | 2019-09-22T16:30:02 | {"doid": ["0090015"], "mesh": ["C538150"], "omim": ["212780"], "orphanet": ["3258"], "synonyms": ["Alternative titles", "CENANI SYNDACTYLISM", "CENANI-LENZ SYNDACTYLY", "SYNDACTYLY, TYPE VII"]} |
A number sign (#) is used with this entry because of evidence that multiple mitochondrial dysfunctions syndrome-2 (MMDS2) with hyperglycinemia is caused by homozygous mutation in the BOLA3 gene (613183) on chromosome 2p13.
Description
Multiple mitochondrial dysfunctions syndrome-2 (MMDS2) with hyperglycinemia is a ... | MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA | c3280378 | 3,746 | omim | https://www.omim.org/entry/614299 | 2019-09-22T15:55:55 | {"doid": ["0080134"], "omim": ["614299"], "orphanet": ["401874"], "synonyms": ["BOLA3 deficiency"]} |
A number sign (#) is used with this entry because Aarskog-Scott syndrome (AAS) can be caused by mutation in the FGD1 gene (300546) on chromosome Xp11.
Aarskog-Scott syndrome with attention deficit-hyperactivity disorder and a form of syndromic X-linked mental retardation (MRXS16) are also caused by mutation in the F... | AARSKOG-SCOTT SYNDROME | c0175701 | 3,747 | omim | https://www.omim.org/entry/305400 | 2019-09-22T16:18:24 | {"mesh": ["C535331"], "omim": ["305400"], "icd-10": ["Q87.1"], "orphanet": ["915"], "synonyms": ["Alternative titles", "FACIOGENITAL DYSPLASIA", "FACIODIGITOGENITAL SYNDROME", "AARSKOG SYNDROME, X-LINKED"]} |
Van Kuijck et al. (1996) reported the cloning, expression, and functional characterization of a rabbit epithelial basolateral chloride conductance regulator (EBCR), a protein belonging to the superfamily of ATP-binding cassette (ABC) transporters (see 170260). They cloned an approximately 6-kb cDNA from a rabbit ileu... | EPITHELIAL BASOLATERAL CHLORIDE CONDUCTANCE REGULATOR, RABBIT, HOMOLOG OF | c1832477 | 3,748 | omim | https://www.omim.org/entry/601315 | 2019-09-22T16:15:07 | {"omim": ["601315"], "synonyms": ["Alternative titles", "EBCR"]} |
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon form of epilepsy that runs in families. This disorder causes seizures that usually occur at night (nocturnally) while an affected person is sleeping. Some people with ADNFLE also have seizures during the day.
The seizures characteristic of AD... | Autosomal dominant nocturnal frontal lobe epilepsy | c1838049 | 3,749 | medlineplus | https://medlineplus.gov/genetics/condition/autosomal-dominant-nocturnal-frontal-lobe-epilepsy/ | 2021-01-27T08:24:40 | {"gard": ["11918"], "mesh": ["C563930"], "omim": ["600513", "603204", "605375", "610353"], "synonyms": []} |
Hyperparathyroidism is an endocrine disorder in which the parathyroid glands in the neck produce too much parathyroid hormone (PTH). Signs and symptoms are often mild and nonspecific, such as a feeling of weakness and fatigue, depression, or aches and pains. With more severe disease, a person may have a loss of appet... | Primary hyperparathyroidism | c0221002 | 3,750 | gard | https://rarediseases.info.nih.gov/diseases/8612/primary-hyperparathyroidism | 2021-01-18T17:58:11 | {"mesh": ["D049950"], "synonyms": ["Hyperparathyroidism, primary"]} |
## Summary
### Clinical characteristics.
DNMT1-related disorder is a degenerative disorder of the central and peripheral nervous systems comprising a phenotypic spectrum that includes hereditary sensory and autonomic neuropathy type 1E (HSAN1E) and autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADC... | DNMT1-Related Disorder | None | 3,751 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK84112/ | 2021-01-18T21:31:22 | {"synonyms": []} |
A rare viral disease caused by arboviruses and are classically characterized by encephalitis and hemorrhage, however, most commonly only aspecific fever is observed.
## Clinical description
Arboviruses are a heterogeneous group of viruses transmitted by a hematophagous arthropod vector. The most well known and most... | Arbovirus fever | None | 3,752 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=344 | 2021-01-23T17:23:22 | {} |
## Summary
### Clinical characteristics.
Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include reduced iris pigment with iris transillumination, reduced reti... | Hermansky-Pudlak Syndrome | c0079504 | 3,753 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1287/ | 2021-01-18T21:19:41 | {"mesh": ["D022861"], "synonyms": []} |
For a general phenotypic description and a discussion of genetic heterogeneity of neuroblastoma, see NBLST1 (256700).
Mapping
In a genomewide analysis of 397 patients with high-risk aggressive neuroblastoma derived from the 1,032 patients in a study by Maris et al. (2008) and 2,043 controls, Capasso et al. (2009) f... | NEUROBLASTOMA, SUSCEPTIBILITY TO, 5 | c0027819 | 3,754 | omim | https://www.omim.org/entry/613016 | 2019-09-22T16:00:08 | {"mesh": ["D009447"], "omim": ["613016"], "orphanet": ["635"]} |
Zellweger spectrum disorder is a group of conditions that have overlapping signs and symptoms and affect many parts of the body. This group of conditions includes Zellweger syndrome, neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease. These conditions were once thought to be distinct disorders but are... | Zellweger spectrum disorder | c1864171 | 3,755 | medlineplus | https://medlineplus.gov/genetics/condition/zellweger-spectrum-disorder/ | 2021-01-27T08:24:55 | {"gard": ["11890", "7917"], "mesh": ["C566405"], "omim": ["614882", "614883", "614886", "614887", "614920", "214100", "601539", "214110", "202370", "614859", "266510", "614862", "614866", "614870", "614872", "614876"], "synonyms": []} |
A rare bone tumor characterized by a benign lesion composed of lobules of spindle shaped or stellate cells and an abundant myxoid or chondroid matrix. The tumor may occur in almost any osseous location but is most common in long bones, in particular the proximal tibia and the distal femur. Pain is the most common pre... | Chondromyxoid fibroma | c0221290 | 3,756 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=404507 | 2021-01-23T17:56:26 | {"umls": ["C0221290"], "icd-10": ["D16.9"]} |
An inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.
## Epidemiology
Just over 120 cases have been reported in the literature so far.
## Clinical description
The majority of affected infants are born at f... | Aicardi-Goutières syndrome | c0393591 | 3,757 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=51 | 2021-01-23T18:51:17 | {"gard": ["575"], "mesh": ["C535607"], "omim": ["114100", "225750", "610181", "610329", "610333", "612952", "615010", "615846"], "umls": ["C0393591"], "icd-10": ["G31.8"], "synonyms": ["Encephalopathy with basal ganglia calcification", "Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebro... |
Mental illness characterized by abnormal behavior and misinterpretation of reality
For other uses, see Schizophrenia (disambiguation).
Schizophrenia
Cloth embroidered by a person diagnosed with schizophrenia
Pronunciation
* /ˌskɪtsəˈfriːniə/, UK also /ˌskɪdzə-/, US also /-ˈfrɛniə/[1]
SpecialtyPsychiat... | Schizophrenia | c0036341 | 3,758 | wikipedia | https://en.wikipedia.org/wiki/Schizophrenia | 2021-01-18T18:41:36 | {"mesh": ["D012559"], "umls": ["C0036341"], "icd-9": ["295295"], "icd-10": ["F20"], "wikidata": ["Q41112"]} |
Simple cryoglobulinemia occurs when the body makes an abnormal immune system protein called a cryoglobulin. At temperatures less than 98.6 degrees Fahrenheit (normal body temperature), cryoglobulins become solid or gel-like and can block blood vessels. This causes a variety of health problems. Many people with cr... | Simple cryoglobulinemia | c0010403 | 3,759 | gard | https://rarediseases.info.nih.gov/diseases/6217/simple-cryoglobulinemia | 2021-01-18T17:57:42 | {"mesh": ["D003449"], "umls": ["C0010403"], "orphanet": ["91139"], "synonyms": ["Cryoglobulinemia type 1"]} |
Nezelof syndrome
Other namesThymic dysplasia with normal immunoglobulins[1]:85
Autosomal recessive is the manner in which this condition is inherited
SpecialtyImmunology
SymptomsHepatosplenomegaly[2]
CausesCurrently unknown[3]
Diagnostic methodBlood test[3][4]
TreatmentAntimicrobial therapy, IV immunogl... | Nezelof syndrome | c0152094 | 3,760 | wikipedia | https://en.wikipedia.org/wiki/Nezelof_syndrome | 2021-01-18T18:36:33 | {"mesh": ["C536288"], "umls": ["C0152094", "C0685894"], "orphanet": ["83471"], "wikidata": ["Q3508681"]} |
A fibroinflammatory disorder of the thyroid gland, occuring more frequently in females, characterized a large, hard thyroid mass, and presenting with pressure symptoms (breathing difficul¼ties and dysphagia) or voice hoarseness and aphonia (impingement of recurrent laryngeal nerve). It can often be associated wit... | IgG4-related thyroid disease | c0154162 | 3,761 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=64744 | 2021-01-23T18:09:34 | {"umls": ["C0154162"], "icd-10": ["E06.5"], "synonyms": ["Riedel disease", "Riedel thyroiditis"]} |
A number sign (#) is used with this entry because of evidence that hypochondroplasia can be caused by mutation in the gene for fibroblast growth factor receptor-3 (FGFR3; 134934), located on 4p, which is consistently mutated in achondroplasia (ACH; 100800). Not all patients with presumed hypochondroplasia have demons... | HYPOCHONDROPLASIA | c0410529 | 3,762 | omim | https://www.omim.org/entry/146000 | 2019-09-22T16:39:47 | {"doid": ["0080041"], "mesh": ["C562937"], "omim": ["146000"], "icd-10": ["Q77.4"], "orphanet": ["429"], "genereviews": ["NBK1477"]} |
Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit.
*[v]: View ... | Pfeiffer-Palm-Teller syndrome | c1849929 | 3,763 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2871 | 2021-01-23T17:11:37 | {"gard": ["4305"], "mesh": ["C537889"], "omim": ["261560"], "umls": ["C1849929"], "icd-10": ["Q87.1"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive spinocerebellar ataxia-21 (SCAR21), also known as low gammaglutamyltransferase (GGT) cholestasis, acute liver failure, and neurodegeneration (CALFAN) syndrome, is caused by homozygous mutation in the SCYL1 gene (607982) on chromoso... | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21 | c4225236 | 3,764 | omim | https://www.omim.org/entry/616719 | 2019-09-22T15:48:07 | {"doid": ["0111155"], "omim": ["616719"], "orphanet": ["466794"], "synonyms": ["SCAR21", "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, WITH HEPATOPATHY", "Alternative titles", "CHOLESTASIS, LOW GGT, ACUTE LIVER FAILURE, AND NEURODEGENERATION SYNDROME", "Autosomal recessive spinocerebellar ataxia type 21"]} |
Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including 'trident' aspect of the acetabula and metaphyseal changes.
## Epidemiology
Annual incidence at birth is unknown but is estimated to be... | Jeune syndrome | c0265275 | 3,765 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=474 | 2021-01-23T18:34:11 | {"gard": ["3049"], "mesh": ["C537571"], "omim": ["208500", "611263", "613091", "613819", "614376", "615630", "615633", "616300", "617088"], "umls": ["C0265275"], "icd-10": ["Q77.2"], "synonyms": ["Asphyxiating thoracic dystrophy of the newborn", "JATD", "Jeune asphyxiating thoracic dystrophy"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive mental retardation-57 (MRT57) is caused by homozygous mutation in the MBOAT7 gene (606048) on chromosome 19q13.
Clinical Features
Johansen et al. (2016) reported 16 patients from 6 unrelated consanguineous families of Middle East... | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 | c4310673 | 3,766 | omim | https://www.omim.org/entry/617188 | 2019-09-22T15:46:30 | {"omim": ["617188"], "orphanet": ["88616"], "synonyms": ["AR-NSID", "NS-ARID"]} |
Wikipedia list article
For the disease involved in the COVID-19 pandemic, see Coronavirus disease 2019.
Coronavirus
Types
* Alphacoronavirus
* Betacoronavirus
* Gammacoronavirus
* Deltacoronavirus
Diseases
* Common cold
* SARS
* MERS
* COVID-19
Vaccines
* COVID-19 vaccine
... | Coronavirus diseases | c0206750 | 3,767 | wikipedia | https://en.wikipedia.org/wiki/Coronavirus_diseases | 2021-01-18T18:48:38 | {"mesh": ["D018352"], "icd-10": ["B34.2", "B97.2", "U04.9"], "wikidata": ["Q18975243"]} |
Bipolar affective disorder is a genetically heterogeneous complex trait. One susceptibility locus for bipolar disorder, MAFD1, has been mapped to chromosome 18p.
Other mapped loci include MAFD2 (309200) on chromosome Xq28, MAFD3 (609633) on chromosome 21q22, MAFD4 (611247) on chromosome 16p12, MAFD7 (612371) on chro... | MAJOR AFFECTIVE DISORDER 1 | c1852197 | 3,768 | omim | https://www.omim.org/entry/125480 | 2019-09-22T16:42:27 | {"doid": ["0080220"], "mesh": ["C565111"], "omim": ["125480"], "icd-10": ["F31"], "synonyms": ["Alternative titles", "MANIC-DEPRESSIVE PSYCHOSIS", "BIPOLAR AFFECTIVE DISORDER", "MANIC-DEPRESSIVE PSYCHOSIS, AUTOSOMAL"]} |
Jacobsen syndrome
Other namesDel(11)(qter), distal deletion 11q, distal monosomy 11q, monosomy 11qter
Girl with Jacobsen syndrome
SpecialtyMedical genetics
Jacobsen syndrome is a rare chromosomal disorder resulting from deletion of genes from chromosome 11 that includes band 11q24.1. It is a congenital dis... | Jacobsen syndrome | c0795841 | 3,769 | wikipedia | https://en.wikipedia.org/wiki/Jacobsen_syndrome | 2021-01-18T18:50:47 | {"gard": ["307"], "mesh": ["D054868"], "umls": ["C0795841"], "icd-9": ["758.3"], "icd-10": ["Q93.5"], "orphanet": ["2308"], "wikidata": ["Q1677755"]} |
Main article: Agnosia
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: "Apperceptive agnosia" – news · newspapers · books · scholar · JSTOR (September 2019) (Learn ... | Apperceptive agnosia | None | 3,770 | wikipedia | https://en.wikipedia.org/wiki/Apperceptive_agnosia | 2021-01-18T18:47:21 | {"wikidata": ["Q1859754"]} |
In monilethrix the hairs show regularly spaced fusiform, spindle-shaped or elliptical swellings. The nodes are the normal diameter of the shaft and the internodes represent atrophic parts. In pseudomonilethrix the nodes are irregularly spaced and the internodes represent the normal hair-shaft caliber. The latter ... | PSEUDOMONILETHRIX | c0432346 | 3,771 | omim | https://www.omim.org/entry/177750 | 2019-09-22T16:35:36 | {"mesh": ["C562988"], "omim": ["177750"]} |
## Description
Linear and whorled hypermelanosis (LWNH) is a benign skin condition characterized by onset in infancy of hyperpigmented regions composed of small light brown spots that coalesce with age and follow the lines of Blaschko on the trunk and limbs. The soles, palms, face, and mucous membranes are spared. ... | NEVOID HYPERMELANOSIS, LINEAR AND WHORLED | c1304501 | 3,772 | omim | https://www.omim.org/entry/614323 | 2019-09-22T15:55:42 | {"omim": ["614323"], "orphanet": ["79150"]} |
## Summary
### Clinical characteristics.
Urofacial syndrome (UFS) is characterized by prenatal or infantile onset of urinary bladder voiding dysfunction, abnormal facial movement with expression (resulting from abnormal co-contraction of the corners of the mouth and eyes), and often bowel dysfunction (constipation ... | Urofacial Syndrome | c0403555 | 3,773 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK154138/ | 2021-01-18T20:51:08 | {"mesh": ["C536480"], "synonyms": ["Ochoa Syndrome"]} |
This syndrome is characterised by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant... | Lissencephaly type 3-metacarpal bone dysplasia syndrome | c1832678 | 3,774 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=86822 | 2021-01-23T17:36:51 | {"mesh": ["C563383"], "omim": ["601160"], "icd-10": ["Q04.3"]} |
Brusing injury to the face
This article is about the injury. For other uses, see Black eye (disambiguation).
Not to be confused with Eye black.
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged an... | Black eye | c0520723 | 3,775 | wikipedia | https://en.wikipedia.org/wiki/Black_eye | 2021-01-18T18:56:10 | {"umls": ["C0520723"], "icd-9": ["921.0"], "icd-10": ["S00.1"], "wikidata": ["Q882770"]} |
Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision.
## Epidemiology
Prevalence of... | Meesmann corneal dystrophy | c0339277 | 3,776 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98954 | 2021-01-23T18:22:55 | {"gard": ["9688"], "mesh": ["D053559"], "omim": ["122100", "618767"], "umls": ["C0339277"], "icd-10": ["H18.5"], "synonyms": ["Juvenile hereditary epithelial dystrophy of Meesmann", "MECD"]} |
Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia) in infancy. All affected individuals experience cognitive delays, but the intellectual disability is usually mild to moderate.
People with Down syndrome often... | Down syndrome | c0013080 | 3,777 | medlineplus | https://medlineplus.gov/genetics/condition/down-syndrome/ | 2021-01-27T08:25:13 | {"gard": ["10247"], "mesh": ["D004314"], "omim": ["190685"], "synonyms": []} |
## Clinical Features
Failure to thrive, nutritional edema, and hypoproteinemia with normal sweat electrolytes were features of 2 affected male infants reported by Townes (1965) and Townes et al. (1967). The infants had deficiency of trypsinogen (276000). A male sib of the first patient reported by Townes (1965) had... | TRYPSINOGEN DEFICIENCY | c0268417 | 3,778 | omim | https://www.omim.org/entry/614044 | 2019-09-22T15:56:43 | {"omim": ["614044"]} |
## Clinical Features
Barbagallo Sangiorgi et al. (1965) described 2 families. In 1 family, 2 of 4 brothers had splenomegaly, compensated cirrhosis, and mild diabetes. Splenic venograph showed splenocaval shunt, and one had chronic hyperammoniacal encephalopathy. In the second family, a brother and 2 sisters had spl... | SPLENOPORTAL VASCULAR ANOMALIES | c0340826 | 3,779 | omim | https://www.omim.org/entry/271500 | 2019-09-22T16:22:06 | {"mesh": ["C562761"], "omim": ["271500"]} |
Primary immune deficiency disorder
Hyper IgM syndrome type 2
Immunoglobulin M
TypesHyper-IgM syndrome type 1,2,3,4 and 5[1][2][3][4][5]
Diagnostic methodMRI, Chest radiography and genetic testing[6]
TreatmentAllogeneic hematopoietic cell transplantation[7]
Hyper IgM Syndrome Type 2 is a rare disease. Un... | Hyper-IgM syndrome type 2 | c1720956 | 3,780 | wikipedia | https://en.wikipedia.org/wiki/Hyper-IgM_syndrome_type_2 | 2021-01-18T18:48:49 | {"gard": ["10578"], "mesh": ["D053306"], "umls": ["C1720956"], "orphanet": ["183666", "101089"], "wikidata": ["Q5957516"]} |
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. (May 2016)
Hypotrichosis with juvenile macular dystrophy
Other namesHypotrichosis with juvenile macular degeneration[1]
Hypotrichosis (sparse hair... | Hypotrichosis with juvenile macular dystrophy | c1832162 | 3,781 | wikipedia | https://en.wikipedia.org/wiki/Hypotrichosis_with_juvenile_macular_dystrophy | 2021-01-18T18:28:38 | {"gard": ["3066"], "mesh": ["C537698"], "umls": ["C1832162"], "orphanet": ["1573"], "wikidata": ["Q22132220"]} |
Dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain
Vascular dementia
Other namesArteriosclerotic dementia (in the ICD-9)
Multi-infarct dementia (in the ICD-10)
Vascular cognitive impairment
SpecialtyPsychiatry, neurology
Vascular dementia... | Vascular dementia | c0011269 | 3,782 | wikipedia | https://en.wikipedia.org/wiki/Vascular_dementia | 2021-01-18T18:32:05 | {"mesh": ["D015140"], "umls": ["C0011269", "C0011263"], "wikidata": ["Q583908"]} |
A rare genetic, muscle channelopathy characterized by recurrent episodic attacks of generalized muscle weakness associated with a decrease in blood potassium levels.
## Epidemiology
Prevalence is estimated at around 1/100,000 in Europe.
## Clinical description
Attacks of muscle weakness generally begin during... | Hypokalemic periodic paralysis | c0238357 | 3,783 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=681 | 2021-01-23T17:14:47 | {"gard": ["6729"], "mesh": ["D020513", "D020514"], "omim": ["170400", "613345"], "umls": ["C0238357", "C0238358"], "icd-10": ["G72.3"], "synonyms": ["Westphall disease"]} |
Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism (see this term) in which the thyroid gland is anatomically normal.
## Epidemiology
Thyroid dyshormonogenesis accounts for 10-15% of permanent congenital hypothyroidism (see this term) while TSH rec... | Primary congenital hypothyroidism without thyroid developmental anomaly | None | 3,784 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=95714 | 2021-01-23T16:59:23 | {"icd-10": ["E03.0", "E03.1"]} |
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed.
Find sources: "Hammer toe" – news · newspapers · books · ... | Hammer toe | c1136179 | 3,785 | wikipedia | https://en.wikipedia.org/wiki/Hammer_toe | 2021-01-18T18:38:42 | {"mesh": ["D037801"], "umls": ["C1136179"], "icd-9": ["735.4", "755.66"], "icd-10": ["M20.4", "Q66.8"], "wikidata": ["Q602477"]} |
A number sign (#) is used with this entry because of evidence that Liddle syndrome-2 (LIDLS2) is caused by heterozygous mutation in the SCNN1G gene (600761), encoding the gamma subunit of the renal epithelial sodium channel (ENaC), on chromosome 16p12.
Description
Liddle syndrome is an autosomal dominant form o... | LIDDLE SYNDROME 2 | c0221043 | 3,786 | omim | https://www.omim.org/entry/618114 | 2019-09-22T15:43:55 | {"mesh": ["D056929"], "omim": ["618114"], "orphanet": ["526"]} |
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: "Gliomatosis cerebri" – news · newspapers · books · scholar · JSTOR (January 2010) (Learn how and when to remove this te... | Gliomatosis cerebri | c0334576 | 3,787 | wikipedia | https://en.wikipedia.org/wiki/Gliomatosis_cerebri | 2021-01-18T18:56:35 | {"gard": ["6514"], "mesh": ["D018302"], "umls": ["C0334576"], "icd-9": ["191.0"], "orphanet": ["251582"], "wikidata": ["Q1531482"]} |
A number sign (#) is used with this entry because Carney complex variant associated with distal arthrogryposis is caused by mutation in the MYH8 gene (160741).
For a phenotypic description of Carney complex, see (160980).
Veugelers et al. (2004) described a Caucasian Belgian family, originally reported by (Chau... | CARNEY COMPLEX VARIANT | c1837245 | 3,788 | omim | https://www.omim.org/entry/608837 | 2019-09-22T16:07:06 | {"doid": ["0050471"], "mesh": ["C563845"], "omim": ["608837"], "orphanet": ["319340"]} |
A rare, genetic, autosomal dominant hereditary axonal motor and sensory neuropathy disorder characterized by childhood-onset palmoplantar keratoderma associated with motor and sensory polyneuropathy manifestating with late-onset, predominantly distal, lower limb muscle weakness and atrophy (later associating mild pro... | Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome | c1835671 | 3,789 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=538574 | 2021-01-23T18:04:26 | {"mesh": ["C536153"], "omim": ["148360"], "icd-10": ["G60.0"], "synonyms": ["Palmoplantar keratoderma-Charcot-Marie-Tooth syndrome"]} |
Clouding of the lens inside the eye, which leads to low vision
For other uses, see Cataract (disambiguation).
Cataract
Magnified view of a cataract seen on examination with a slit lamp
SpecialtyOphthalmology
SymptomsFaded colors, blurry vision, halos around light, trouble with bright lights, trouble seeing at... | Cataract | c0086543 | 3,790 | wikipedia | https://en.wikipedia.org/wiki/Cataract | 2021-01-18T18:53:43 | {"mesh": ["D002386"], "umls": ["C1510497", "C0029531", "C0086543"], "orphanet": ["98640"], "wikidata": ["Q127724"]} |
## Clinical Features
Hunter et al. (1977) identified 6 members of family with characteristic facial features, including microcephaly, almond-shaped palpebral fissures, and downturned or small mouth, mental retardation, mild skeletal anomalies, short stature, and craniosynostosis.
Van Maldergem et al. (1990) an... | HUNTER-MCALPINE CRANIOSYNOSTOSIS SYNDROME | c1832408 | 3,791 | omim | https://www.omim.org/entry/601379 | 2019-09-22T16:14:54 | {"mesh": ["C536072"], "omim": ["601379"], "orphanet": ["97340"]} |
For a phenotypic description and a discussion of genetic heterogeneity of colorectal cancer, see 114500.
Mapping
Tenesa et al. (2008) performed a genomewide association study to identify loci associated with colorectal cancer risk. They genotyped 555,510 SNPs in 1,012 early-onset Scottish CRC cases and 1,012 contro... | COLORECTAL CANCER, SUSCEPTIBILITY TO, 7 | c2677120 | 3,792 | omim | https://www.omim.org/entry/612232 | 2019-09-22T16:02:05 | {"omim": ["612232"], "synonyms": ["Alternative titles", "COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 11"]} |
Geriatric trauma
An elderly woman who was exposed to blast trauma after a rocket exploded nearby
SpecialtyEmergency medicine
Geriatric trauma refers to a traumatic injury that occurs to an elderly person. The three prevailing causes of traumatic death in the elderly are falls (which account for 40% of trauma... | Geriatric trauma | None | 3,793 | wikipedia | https://en.wikipedia.org/wiki/Geriatric_trauma | 2021-01-18T18:34:27 | {"wikidata": ["Q5550848"]} |
Inflammation of the cornea due to fungal infection
Keratomycosis
SpecialtyOphthalmology
A fungal keratitis is an inflammation of the cornea that results from infection by a fungal organism. Keratomycosis is the fungal infection of the cornea, the anterior part of the eye which covers the pupil. Those expe... | Fungal keratitis | c1262117 | 3,794 | wikipedia | https://en.wikipedia.org/wiki/Fungal_keratitis | 2021-01-18T18:52:45 | {"icd-10": ["H19.2", "B49"], "wikidata": ["Q5509171"]} |
A number sign (#) is used with this entry because the phenotype of hypoparathyroidism, sensorineural deafness, and renal disease (HDR), also known as Barakat syndrome, is caused by haploinsufficiency of the GATA3 gene (131320) on chromosome 10p14.
Clinical Features
Barakat et al. (1977) reported steroid-resista... | HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE | c1840333 | 3,795 | omim | https://www.omim.org/entry/146255 | 2019-09-22T16:39:41 | {"doid": ["0060878"], "mesh": ["C537907"], "omim": ["146255"], "orphanet": ["2237"], "synonyms": ["Alternative titles", "HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA SYNDROME", "BARAKAT SYNDROME", "NEPHROSIS, NERVE DEAFNESS, AND HYPOPARATHYROIDISM"]} |
Localized swellings that feel different from the surrounding tissue
Breast mass
Other namesBreast lump, breast tumor
A breast lump associated with an inverted nipple and skin dimpling. Underlying cause was breast cancer.
SpecialtyGynecology
SymptomsAn area of the breast that feel different than the surroundi... | Breast mass | c0024103 | 3,796 | wikipedia | https://en.wikipedia.org/wiki/Breast_mass | 2021-01-18T18:28:22 | {"icd-9": ["611.72"], "icd-10": ["N63"], "wikidata": ["Q953865"]} |
Anophthalmia plus syndrome (APS) is a very rare syndrome that involves malformations in multiple organs of the body. The most common findings in affected individuals are anophthalmia (absence of one or both eyes) or severe microphthalmia (abnormally small eyes), and cleft lip and/or cleft palate. Other findings m... | Anophthalmia plus syndrome | c1833339 | 3,797 | gard | https://rarediseases.info.nih.gov/diseases/719/anophthalmia-plus-syndrome | 2021-01-18T18:02:05 | {"mesh": ["C537767"], "omim": ["600776"], "umls": ["C1833339"], "orphanet": ["1104"], "synonyms": ["Fryns microphthalmia syndrome", "Fryns anophthalmia syndrome", "Microphthalmia with facial clefting", "Anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder", "Leichtman Wood Rohn ... |
A number sign (#) is used with this entry because of evidence that microcephaly-micromelia syndrome (MIMIS) is caused by homozygous mutation in the DONSON gene (611428) on chromosome 21q22.
Biallelic mutation in the DONSON gene can also cause microcephaly, short stature, and limb abnormalities (MISSLA; 617604), a le... | MICROCEPHALY-MICROMELIA SYNDROME | c1855079 | 3,798 | omim | https://www.omim.org/entry/251230 | 2019-09-22T16:25:13 | {"mesh": ["C565382"], "omim": ["251230"]} |
A number sign (#) is used with this entry because autosomal dominant endosteal hyperostosis is caused by heterozygous mutation in the LRP5 gene (603506) on chromosome 11q13.
A number of other disorders characterized by increased bone density, e.g., osteoporosis-pseudoglioma syndrome (OPPG; 259770), are caused by mut... | ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT | c0432273 | 3,799 | omim | https://www.omim.org/entry/144750 | 2019-09-22T16:39:54 | {"mesh": ["C536748"], "omim": ["144750"], "orphanet": ["2790"], "synonyms": ["Alternative titles", "HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS PALATINUS", "OSTEOSCLEROSIS, AUTOSOMAL DOMINANT"]} |
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