eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| turner syndrome | ||||
| Disease ID | 340 |
|---|---|
| Disease | turner syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:87) C2700530 | fabry disease C2678504 | osteoporosis C2364108 | stigma C2237040 | dyschondrosteosis C2046121 | aortic dissection C2029884 | hearing loss C1963099 | myelodysplasia C1848140 | social cognition C1555754 | cardiovascular disease C1521999 | acute myocardial infarction C1519276 | ovarian sex cord tumor with annular tubules C1411876 | dyscalculia C1393529 | vascular complications C1384582 | primary gonadal failure C1336983 | vulvar verrucous carcinoma C1336983 | verrucous carcinoma of the vulva C1321756 | achalasia C1260873 | aortic valve disease C1096063 | intractable epilepsy C0878787 | growth failure C0856748 | aortic arch aneurysm C0852654 | 21-hydroxylase deficiency C0741916 | cardiac defect C0729233 | dissecting thoracic aortic aneurysm C0700208 | scoliosis C0685201 | splenic hemangioma C0474824 | halo nevi C0455683 | congenital heart disease C0410528 | skeletal dysplasia C0376293 | stigmata C0345335 | multicystic dysplastic kidney C0343056 | generalized pustular psoriasis C0338585 | carotid artery dissection C0334533 | arteriovenous malformation C0271606 | primary ovarian failure C0267373 | intestinal bleeding C0263417 | cutis verticis gyrata C0243050 | cardiovascular abnormalities C0235946 | cortical atrophy C0235401 | abnormal glucose tolerance C0234131 | motor dysfunction C0220776 | spondyloepiphyseal dysplasia tarda C0206711 | pilomatrixoma C0206661 | gonadoblastoma C0206620 | cystic hygroma C0155773 | portal thrombosis C0042900 | vitiligo C0042755 | virilization C0039538 | teratoma C0038013 | ankylosing spondylitis C0037284 | skin lesion C0035305 | retinal detachments C0034013 | precocious puberty C0033860 | psoriasis C0029882 | otitis media C0029077 | sympathetic ophthalmia C0027962 | melanocytic nevi C0026782 | mumps C0026267 | mitral valve prolapse C0025362 | mental retardation C0024236 | lymphedema C0023895 | liver disorder C0023418 | leukemias C0020676 | hypothyroidism C0020459 | hyperinsulinemia C0018916 | hemangiomas C0018916 | hemangioma C0018799 | heart disease C0018784 | sensorineural hearing loss C0018051 | gonadal dysgenesis C0017181 | gastrointestinal hemorrhage C0015799 | feminization C0014556 | temporal lobe epilepsy C0014118 | endocarditis C0013447 | otologic disease C0013336 | dwarfism C0011860 | diabetes C0011849 | diabetes mellitus C0008312 | primary biliary cirrhosis C0007570 | coeliac disease C0007570 | celiac disease C0007194 | hypertrophic obstructive cardiomyopathy C0004364 | autoimmune disorders C0003504 | aortic regurgitation C0003493 | aortic disease C0003125 | anorexia nervosa C0002959 | vascular ectasia |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:32) C0340643 | aortic dissection | 7 C0206661 | gonadoblastoma | 3 C0034013 | precocious puberty | 3 C0004364 | autoimmune disorders | 3 C0007570 | celiac disease | 2 C0011847 | diabetes | 2 C1384666 | hearing loss | 2 C0011849 | diabetes mellitus | 1 C0036202 | sarcoidosis | 1 C0001627 | congenital adrenal hyperplasia | 1 C0003493 | aortic disease | 1 C0007570 | coeliac disease | 1 C1393529 | vascular complications | 1 C0206711 | pilomatrixoma | 1 C0853662 | oestrogen deficiency | 1 C0018051 | gonadal dysgenesis | 1 C0029166 | oral manifestations | 1 C0871381 | social cognition | 1 C0014175 | endometriosis | 1 C1390474 | bone fragility | 1 C0020619 | hypogonadism | 1 C0474824 | halo nevi | 1 C0277787 | stigmata | 1 C0267373 | intestinal bleeding | 1 C0243050 | cardiovascular abnormalities | 1 C0025362 | mental retardation | 1 C0007222 | cardiovascular disease | 1 C0023890 | cirrhosis | 1 C0033860 | psoriasis | 1 C0023895 | liver disease | 1 C0029456 | osteoporosis | 1 C0004364 | autoimmune diseases | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:37) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894118 | 15472171 | 2516 | NR5A1 | umls:C0041408 | BeFree | Four human SF1 gene mutations have been described to date: three (G35E, R92Q, R255L) were responsible for adrenal insufficiency associated with a gonadal dysgenesis in two 46, XY individuals, one (8 bp deletion in exon 6) resulted in gonadal dysgenesis without adrenal insufficiency. | 0.005700279 | 2004 | NR5A1 | 9 | 124500196 | C | A |
| rs104894119 | 15472171 | 2516 | NR5A1 | umls:C0041408 | BeFree | Four human SF1 gene mutations have been described to date: three (G35E, R92Q, R255L) were responsible for adrenal insufficiency associated with a gonadal dysgenesis in two 46, XY individuals, one (8 bp deletion in exon 6) resulted in gonadal dysgenesis without adrenal insufficiency. | 0.005700279 | 2004 | NR5A1 | 9 | 124500685 | C | T |
| rs104894966 | 8105086 | 6736 | SRY | umls:C0041408 | BeFree | A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis. | 0.012757768 | 1993 | SRY | Y | 2787267 | C | T |
| rs104894971 | 9521592 | 6736 | SRY | umls:C0041408 | BeFree | A novel missense mutation (S18N) in the 5' non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives. | 0.012757768 | 1998 | SRY | Y | 2787551 | C | T |
| rs104894972 | 10852465 | 6736 | SRY | umls:C0041408 | BeFree | Identification of a new missense mutation (Gly95Glu) in a highly conserved codon within the high-mobility group box of the sex-determining region Y gene: report on a 46,XY female with gonadal dysgenesis and yolk-sac tumor. | 0.012757768 | 2000 | SRY | Y | 2787320 | C | T |
| rs10719 | 23549446 | 29102 | DROSHA | umls:C0041408 | BeFree | A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene interactions suggests that ***ACTA, ***GCCA, ***G*C*, *T*ATTA, and ***ACT* haplotypes (asterisk indicates SNP locus not included; DROSHA rs6877842 and rs10719, DICER1 rs13078 and rs3742330, RAN rs14035, and XPO5 rs2257082 and rs11077 polymorphisms) are associated with higher POI prevalence, and that ***GCTA, ***ACCA, *C*ATTA, and *C*ATT* haplotypes are associated with lower POI prevalence. | 0.000271442 | 2014 | DROSHA | 5 | 31401340 | A | G |
| rs10719 | 23549446 | 2827 | GPR3 | umls:C0041408 | BeFree | A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene interactions suggests that ***ACTA, ***GCCA, ***G*C*, *T*ATTA, and ***ACT* haplotypes (asterisk indicates SNP locus not included; DROSHA rs6877842 and rs10719, DICER1 rs13078 and rs3742330, RAN rs14035, and XPO5 rs2257082 and rs11077 polymorphisms) are associated with higher POI prevalence, and that ***GCTA, ***ACCA, *C*ATTA, and *C*ATT* haplotypes are associated with lower POI prevalence. | 0.000271442 | 2014 | DROSHA | 5 | 31401340 | A | G |
| rs10719 | 23549446 | 641455 | POTEM | umls:C0041408 | BeFree | A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene interactions suggests that ***ACTA, ***GCCA, ***G*C*, *T*ATTA, and ***ACT* haplotypes (asterisk indicates SNP locus not included; DROSHA rs6877842 and rs10719, DICER1 rs13078 and rs3742330, RAN rs14035, and XPO5 rs2257082 and rs11077 polymorphisms) are associated with higher POI prevalence, and that ***GCTA, ***ACCA, *C*ATTA, and *C*ATT* haplotypes are associated with lower POI prevalence. | 0.000271442 | 2014 | DROSHA | 5 | 31401340 | A | G |
| rs10719 | 23549446 | 58 | ACTA1 | umls:C0041408 | BeFree | A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene interactions suggests that ***ACTA, ***GCCA, ***G*C*, *T*ATTA, and ***ACT* haplotypes (asterisk indicates SNP locus not included; DROSHA rs6877842 and rs10719, DICER1 rs13078 and rs3742330, RAN rs14035, and XPO5 rs2257082 and rs11077 polymorphisms) are associated with higher POI prevalence, and that ***GCTA, ***ACCA, *C*ATTA, and *C*ATT* haplotypes are associated with lower POI prevalence. | 0.000271442 | 2014 | DROSHA | 5 | 31401340 | A | G |
| rs11077 | 23549446 | 641455 | POTEM | umls:C0041408 | BeFree | A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene interactions suggests that ***ACTA, ***GCCA, ***G*C*, *T*ATTA, and ***ACT* haplotypes (asterisk indicates SNP locus not included; DROSHA rs6877842 and rs10719, DICER1 rs13078 and rs3742330, RAN rs14035, and XPO5 rs2257082 and rs11077 polymorphisms) are associated with higher POI prevalence, and that ***GCTA, ***ACCA, *C*ATTA, and *C*ATT* haplotypes are associated with lower POI prevalence. | 0.000271442 | 2014 | POLR1C;XPO5 | 6 | 43523209 | T | G |
| rs11077 | 23549446 | 58 | ACTA1 | umls:C0041408 | BeFree | A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene interactions suggests that ***ACTA, ***GCCA, ***G*C*, *T*ATTA, and ***ACT* haplotypes (asterisk indicates SNP locus not included; DROSHA rs6877842 and rs10719, DICER1 rs13078 and rs3742330, RAN rs14035, and XPO5 rs2257082 and rs11077 polymorphisms) are associated with higher POI prevalence, and that ***GCTA, ***ACCA, *C*ATTA, and *C*ATT* haplotypes are associated with lower POI prevalence. | 0.000271442 | 2014 | POLR1C;XPO5 | 6 | 43523209 | T | G |
| rs11077 | 23549446 | 29102 | DROSHA | umls:C0041408 | BeFree | A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene interactions suggests that ***ACTA, ***GCCA, ***G*C*, *T*ATTA, and ***ACT* haplotypes (asterisk indicates SNP locus not included; DROSHA rs6877842 and rs10719, DICER1 rs13078 and rs3742330, RAN rs14035, and XPO5 rs2257082 and rs11077 polymorphisms) are associated with higher POI prevalence, and that ***GCTA, ***ACCA, *C*ATTA, and *C*ATT* haplotypes are associated with lower POI prevalence. | 0.000271442 | 2014 | POLR1C;XPO5 | 6 | 43523209 | T | G |
| rs11077 | 23549446 | 2827 | GPR3 | umls:C0041408 | BeFree | A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene interactions suggests that ***ACTA, ***GCCA, ***G*C*, *T*ATTA, and ***ACT* haplotypes (asterisk indicates SNP locus not included; DROSHA rs6877842 and rs10719, DICER1 rs13078 and rs3742330, RAN rs14035, and XPO5 rs2257082 and rs11077 polymorphisms) are associated with higher POI prevalence, and that ***GCTA, ***ACCA, *C*ATTA, and *C*ATT* haplotypes are associated with lower POI prevalence. | 0.000271442 | 2014 | POLR1C;XPO5 | 6 | 43523209 | T | G |
| rs121918654 | 15472171 | 2516 | NR5A1 | umls:C0041408 | BeFree | Four human SF1 gene mutations have been described to date: three (G35E, R92Q, R255L) were responsible for adrenal insufficiency associated with a gonadal dysgenesis in two 46, XY individuals, one (8 bp deletion in exon 6) resulted in gonadal dysgenesis without adrenal insufficiency. | 0.005700279 | 2004 | NA | NA | NA | NA | NA |
| rs121918655 | 20453312 | 6736 | SRY | umls:C0041408 | BeFree | Here we describe a case of XY complete gonadal dysgenesis due to a p.D293N homozygous mutation in the NR5A1 gene, with normal SRY and no adrenal failure. | 0.012757768 | 2010 | NR5A1 | 9 | 124493143 | C | T |
| rs121918655 | 20453312 | 2516 | NR5A1 | umls:C0041408 | BeFree | Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case study. | 0.005700279 | 2010 | NR5A1 | 9 | 124493143 | C | T |
| rs13078 | 23549446 | 58 | ACTA1 | umls:C0041408 | BeFree | A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene interactions suggests that ***ACTA, ***GCCA, ***G*C*, *T*ATTA, and ***ACT* haplotypes (asterisk indicates SNP locus not included; DROSHA rs6877842 and rs10719, DICER1 rs13078 and rs3742330, RAN rs14035, and XPO5 rs2257082 and rs11077 polymorphisms) are associated with higher POI prevalence, and that ***GCTA, ***ACCA, *C*ATTA, and *C*ATT* haplotypes are associated with lower POI prevalence. | 0.000271442 | 2014 | DICER1 | 14 | 95090410 | A | T |
| rs13078 | 23549446 | 641455 | POTEM | umls:C0041408 | BeFree | A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene interactions suggests that ***ACTA, ***GCCA, ***G*C*, *T*ATTA, and ***ACT* haplotypes (asterisk indicates SNP locus not included; DROSHA rs6877842 and rs10719, DICER1 rs13078 and rs3742330, RAN rs14035, and XPO5 rs2257082 and rs11077 polymorphisms) are associated with higher POI prevalence, and that ***GCTA, ***ACCA, *C*ATTA, and *C*ATT* haplotypes are associated with lower POI prevalence. | 0.000271442 | 2014 | DICER1 | 14 | 95090410 | A | T |
| rs13078 | 23549446 | 2827 | GPR3 | umls:C0041408 | BeFree | A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene interactions suggests that ***ACTA, ***GCCA, ***G*C*, *T*ATTA, and ***ACT* haplotypes (asterisk indicates SNP locus not included; DROSHA rs6877842 and rs10719, DICER1 rs13078 and rs3742330, RAN rs14035, and XPO5 rs2257082 and rs11077 polymorphisms) are associated with higher POI prevalence, and that ***GCTA, ***ACCA, *C*ATTA, and *C*ATT* haplotypes are associated with lower POI prevalence. | 0.000271442 | 2014 | DICER1 | 14 | 95090410 | A | T |
| rs13078 | 23549446 | 29102 | DROSHA | umls:C0041408 | BeFree | A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene interactions suggests that ***ACTA, ***GCCA, ***G*C*, *T*ATTA, and ***ACT* haplotypes (asterisk indicates SNP locus not included; DROSHA rs6877842 and rs10719, DICER1 rs13078 and rs3742330, RAN rs14035, and XPO5 rs2257082 and rs11077 polymorphisms) are associated with higher POI prevalence, and that ***GCTA, ***ACCA, *C*ATTA, and *C*ATT* haplotypes are associated with lower POI prevalence. | 0.000271442 | 2014 | DICER1 | 14 | 95090410 | A | T |
| rs14035 | 23549446 | 641455 | POTEM | umls:C0041408 | BeFree | A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene interactions suggests that ***ACTA, ***GCCA, ***G*C*, *T*ATTA, and ***ACT* haplotypes (asterisk indicates SNP locus not included; DROSHA rs6877842 and rs10719, DICER1 rs13078 and rs3742330, RAN rs14035, and XPO5 rs2257082 and rs11077 polymorphisms) are associated with higher POI prevalence, and that ***GCTA, ***ACCA, *C*ATTA, and *C*ATT* haplotypes are associated with lower POI prevalence. | 0.000271442 | 2014 | RAN | 12 | 130876696 | C | T |
| rs14035 | 23549446 | 58 | ACTA1 | umls:C0041408 | BeFree | A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene interactions suggests that ***ACTA, ***GCCA, ***G*C*, *T*ATTA, and ***ACT* haplotypes (asterisk indicates SNP locus not included; DROSHA rs6877842 and rs10719, DICER1 rs13078 and rs3742330, RAN rs14035, and XPO5 rs2257082 and rs11077 polymorphisms) are associated with higher POI prevalence, and that ***GCTA, ***ACCA, *C*ATTA, and *C*ATT* haplotypes are associated with lower POI prevalence. | 0.000271442 | 2014 | RAN | 12 | 130876696 | C | T |
| rs14035 | 23549446 | 2827 | GPR3 | umls:C0041408 | BeFree | A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene interactions suggests that ***ACTA, ***GCCA, ***G*C*, *T*ATTA, and ***ACT* haplotypes (asterisk indicates SNP locus not included; DROSHA rs6877842 and rs10719, DICER1 rs13078 and rs3742330, RAN rs14035, and XPO5 rs2257082 and rs11077 polymorphisms) are associated with higher POI prevalence, and that ***GCTA, ***ACCA, *C*ATTA, and *C*ATT* haplotypes are associated with lower POI prevalence. | 0.000271442 | 2014 | RAN | 12 | 130876696 | C | T |
| rs14035 | 23549446 | 29102 | DROSHA | umls:C0041408 | BeFree | A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene interactions suggests that ***ACTA, ***GCCA, ***G*C*, *T*ATTA, and ***ACT* haplotypes (asterisk indicates SNP locus not included; DROSHA rs6877842 and rs10719, DICER1 rs13078 and rs3742330, RAN rs14035, and XPO5 rs2257082 and rs11077 polymorphisms) are associated with higher POI prevalence, and that ***GCTA, ***ACCA, *C*ATTA, and *C*ATT* haplotypes are associated with lower POI prevalence. | 0.000271442 | 2014 | RAN | 12 | 130876696 | C | T |
| rs2257082 | 23549446 | 58 | ACTA1 | umls:C0041408 | BeFree | A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene interactions suggests that ***ACTA, ***GCCA, ***G*C*, *T*ATTA, and ***ACT* haplotypes (asterisk indicates SNP locus not included; DROSHA rs6877842 and rs10719, DICER1 rs13078 and rs3742330, RAN rs14035, and XPO5 rs2257082 and rs11077 polymorphisms) are associated with higher POI prevalence, and that ***GCTA, ***ACCA, *C*ATTA, and *C*ATT* haplotypes are associated with lower POI prevalence. | 0.000271442 | 2014 | POLR1C;XPO5 | 6 | 43524840 | G | A |
| rs2257082 | 23549446 | 29102 | DROSHA | umls:C0041408 | BeFree | A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene interactions suggests that ***ACTA, ***GCCA, ***G*C*, *T*ATTA, and ***ACT* haplotypes (asterisk indicates SNP locus not included; DROSHA rs6877842 and rs10719, DICER1 rs13078 and rs3742330, RAN rs14035, and XPO5 rs2257082 and rs11077 polymorphisms) are associated with higher POI prevalence, and that ***GCTA, ***ACCA, *C*ATTA, and *C*ATT* haplotypes are associated with lower POI prevalence. | 0.000271442 | 2014 | POLR1C;XPO5 | 6 | 43524840 | G | A |
| rs2257082 | 23549446 | 2827 | GPR3 | umls:C0041408 | BeFree | A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene interactions suggests that ***ACTA, ***GCCA, ***G*C*, *T*ATTA, and ***ACT* haplotypes (asterisk indicates SNP locus not included; DROSHA rs6877842 and rs10719, DICER1 rs13078 and rs3742330, RAN rs14035, and XPO5 rs2257082 and rs11077 polymorphisms) are associated with higher POI prevalence, and that ***GCTA, ***ACCA, *C*ATTA, and *C*ATT* haplotypes are associated with lower POI prevalence. | 0.000271442 | 2014 | POLR1C;XPO5 | 6 | 43524840 | G | A |
| rs2257082 | 23549446 | 641455 | POTEM | umls:C0041408 | BeFree | A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene interactions suggests that ***ACTA, ***GCCA, ***G*C*, *T*ATTA, and ***ACT* haplotypes (asterisk indicates SNP locus not included; DROSHA rs6877842 and rs10719, DICER1 rs13078 and rs3742330, RAN rs14035, and XPO5 rs2257082 and rs11077 polymorphisms) are associated with higher POI prevalence, and that ***GCTA, ***ACCA, *C*ATTA, and *C*ATT* haplotypes are associated with lower POI prevalence. | 0.000271442 | 2014 | POLR1C;XPO5 | 6 | 43524840 | G | A |
| rs3742330 | 23549446 | 2827 | GPR3 | umls:C0041408 | BeFree | A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene interactions suggests that ***ACTA, ***GCCA, ***G*C*, *T*ATTA, and ***ACT* haplotypes (asterisk indicates SNP locus not included; DROSHA rs6877842 and rs10719, DICER1 rs13078 and rs3742330, RAN rs14035, and XPO5 rs2257082 and rs11077 polymorphisms) are associated with higher POI prevalence, and that ***GCTA, ***ACCA, *C*ATTA, and *C*ATT* haplotypes are associated with lower POI prevalence. | 0.000271442 | 2014 | DICER1 | 14 | 95087025 | A | G |
| rs3742330 | 23549446 | 58 | ACTA1 | umls:C0041408 | BeFree | A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene interactions suggests that ***ACTA, ***GCCA, ***G*C*, *T*ATTA, and ***ACT* haplotypes (asterisk indicates SNP locus not included; DROSHA rs6877842 and rs10719, DICER1 rs13078 and rs3742330, RAN rs14035, and XPO5 rs2257082 and rs11077 polymorphisms) are associated with higher POI prevalence, and that ***GCTA, ***ACCA, *C*ATTA, and *C*ATT* haplotypes are associated with lower POI prevalence. | 0.000271442 | 2014 | DICER1 | 14 | 95087025 | A | G |
| rs3742330 | 23549446 | 641455 | POTEM | umls:C0041408 | BeFree | A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene interactions suggests that ***ACTA, ***GCCA, ***G*C*, *T*ATTA, and ***ACT* haplotypes (asterisk indicates SNP locus not included; DROSHA rs6877842 and rs10719, DICER1 rs13078 and rs3742330, RAN rs14035, and XPO5 rs2257082 and rs11077 polymorphisms) are associated with higher POI prevalence, and that ***GCTA, ***ACCA, *C*ATTA, and *C*ATT* haplotypes are associated with lower POI prevalence. | 0.000271442 | 2014 | DICER1 | 14 | 95087025 | A | G |
| rs3742330 | 23549446 | 29102 | DROSHA | umls:C0041408 | BeFree | A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene interactions suggests that ***ACTA, ***GCCA, ***G*C*, *T*ATTA, and ***ACT* haplotypes (asterisk indicates SNP locus not included; DROSHA rs6877842 and rs10719, DICER1 rs13078 and rs3742330, RAN rs14035, and XPO5 rs2257082 and rs11077 polymorphisms) are associated with higher POI prevalence, and that ***GCTA, ***ACCA, *C*ATTA, and *C*ATT* haplotypes are associated with lower POI prevalence. | 0.000271442 | 2014 | DICER1 | 14 | 95087025 | A | G |
| rs397507444 | 22283972 | 4524 | MTHFR | umls:C0041408 | BeFree | C677T and A1298C polymorphisms of MTHFR gene and their relation to homocysteine levels in Turner syndrome. | 0.00554839 | 2012 | MTHFR | 1 | 11794407 | T | G |
| rs6877842 | 23549446 | 58 | ACTA1 | umls:C0041408 | BeFree | A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene interactions suggests that ***ACTA, ***GCCA, ***G*C*, *T*ATTA, and ***ACT* haplotypes (asterisk indicates SNP locus not included; DROSHA rs6877842 and rs10719, DICER1 rs13078 and rs3742330, RAN rs14035, and XPO5 rs2257082 and rs11077 polymorphisms) are associated with higher POI prevalence, and that ***GCTA, ***ACCA, *C*ATTA, and *C*ATT* haplotypes are associated with lower POI prevalence. | 0.000271442 | 2014 | DROSHA;C5orf22 | 5 | 31532531 | G | C |
| rs6877842 | 23549446 | 29102 | DROSHA | umls:C0041408 | BeFree | A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene interactions suggests that ***ACTA, ***GCCA, ***G*C*, *T*ATTA, and ***ACT* haplotypes (asterisk indicates SNP locus not included; DROSHA rs6877842 and rs10719, DICER1 rs13078 and rs3742330, RAN rs14035, and XPO5 rs2257082 and rs11077 polymorphisms) are associated with higher POI prevalence, and that ***GCTA, ***ACCA, *C*ATTA, and *C*ATT* haplotypes are associated with lower POI prevalence. | 0.000271442 | 2014 | DROSHA;C5orf22 | 5 | 31532531 | G | C |
| rs6877842 | 23549446 | 641455 | POTEM | umls:C0041408 | BeFree | A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene interactions suggests that ***ACTA, ***GCCA, ***G*C*, *T*ATTA, and ***ACT* haplotypes (asterisk indicates SNP locus not included; DROSHA rs6877842 and rs10719, DICER1 rs13078 and rs3742330, RAN rs14035, and XPO5 rs2257082 and rs11077 polymorphisms) are associated with higher POI prevalence, and that ***GCTA, ***ACCA, *C*ATTA, and *C*ATT* haplotypes are associated with lower POI prevalence. | 0.000271442 | 2014 | DROSHA;C5orf22 | 5 | 31532531 | G | C |
| rs6877842 | 23549446 | 2827 | GPR3 | umls:C0041408 | BeFree | A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene interactions suggests that ***ACTA, ***GCCA, ***G*C*, *T*ATTA, and ***ACT* haplotypes (asterisk indicates SNP locus not included; DROSHA rs6877842 and rs10719, DICER1 rs13078 and rs3742330, RAN rs14035, and XPO5 rs2257082 and rs11077 polymorphisms) are associated with higher POI prevalence, and that ***GCTA, ***ACCA, *C*ATTA, and *C*ATT* haplotypes are associated with lower POI prevalence. | 0.000271442 | 2014 | DROSHA;C5orf22 | 5 | 31532531 | G | C |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:29) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000085 | Horseshoe kidney | MP:0011441 | decreased kidney cell proliferation | decrease in the expansion rate of any kidney cell population by cell division |
| HP:0002647 | Aortic dissection | MP:0004044 | aortic dissection | a pathologic process, characterized by splitting of the media layer of the aorta, which leads to formation of a dissecting aneurysm |
| HP:0008222 | Female infertility | MP:0001926 | female infertility | inability of female to produce live offspring |
| HP:0001395 | Hepatic fibrosis | MP:0003985 | renal fibrosis | formation of fibrous tissue in the kidney as a result of repair or a reactive process |
| HP:0000403 | Recurrent otitis media | MP:0009873 | abnormal aorta tunica media morphology | any structural anomaly of the middle layer of the aorta wall, containing the smooth muscle layer and elastic fibers |
| HP:0002910 | Elevated hepatic transaminases | MP:0002628 | hepatic steatosis | an accumulation of fat deposits in the liver |
| HP:0000218 | High palate | MP:0011615 | submucous cleft palate | a cleft of the palate with cardinal signs including a bifid uvula, a V-shaped notch at the back of the hard palate, and/or a translucent line in the midline of the soft palate and a short palate |
| HP:0004383 | Hypoplastic left heart | MP:0012515 | abnormal heart apex morphology | any structural anomaly of the lowest superficial part of the heart, normally directed downward, forward, and to the left, and overlapped by the left lung and pleura; the heart apex is formed by the inferolateral part of the left ventricle and responsible |
| HP:0001680 | Coarctation of aorta | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0008897 | Postnatal growth retardation | MP:0011109 | lethality throughout fetal growth and development, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5) |
| HP:0010044 | Short 4th metacarpal | MP:0003073 | abnormal metacarpal bone morphology | any structural anomaly in the five bones of the forepaws/hands that articulate proximally with the carpal bones and distally with the phalanges |
| HP:0000987 | Atypical scarring of skin | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0000086 | Ectopic kidney | MP:0011441 | decreased kidney cell proliferation | decrease in the expansion rate of any kidney cell population by cell division |
| HP:0002037 | Inflammation of the large intestine | MP:0004842 | abnormal large intestine crypts of Lieberkuhn morphology | any structural anomaly of the tubular intestinal glands found in the mucosal membranes of the large intestine |
| HP:0008356 | Combined hyperlipidemia | MP:0001548 | hyperlipidemia | abnormally high concentration of lipids in the circulating blood |
| HP:0001231 | Abnormality of the fingernails | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0001631 | Atria septal defect | MP:0011667 | double outlet right ventricle with atrioventricular septal defect | a form of DORV in which there is also a complete atrioventricular canal |
| HP:0004349 | Reduced bone mineral density | MP:0013630 | increased bone trabecular spacing | increase in the amount of space between trabeculae in cancellous bone |
| HP:0002611 | Cholestatic liver disease | MP:0010026 | decreased liver cholesterol level | less than normal amount in the liver of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found i |
| HP:0007018 | Attention deficit hyperactivity disorder | MP:0001399 | hyperactivity | general restlessness or excessive movement; more frequent movement from one place to another or having an increased state of activity |
| HP:0001657 | Prolonged QT interval | MP:0003900 | shortened QT interval | decrease in the length of time required for ventricular depolarization and repolarization to occur, usually as a result of increased repolarization time, and is measured from the beginning of the QRS complex to the end of the T wave |
| HP:0002750 | Delayed skeletal maturation | MP:0003379 | absent sexual maturation | failure to initiate pubertal changes that result in achievement of full sexual capacity |
| HP:0000837 | Increased circulating gonadotropin level | MP:0011533 | increased urine major urinary protein level | increased amount in the urine of a family of alpha2-microglobulin-related liver secretory proteins that comprise a major protein component of mouse urine |
| HP:0006709 | Aplasia/Hypoplasia of the nipples | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0000470 | Short neck | MP:0012720 | elongated neck | increased length of the neck |
| HP:0000474 | Thickened nuchal skin fold | MP:0010678 | abnormal skin adnexa morphology | any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails |
| HP:0005294 | Arterial dissection | MP:0004044 | aortic dissection | a pathologic process, characterized by splitting of the media layer of the aorta, which leads to formation of a dissecting aneurysm |
| HP:0008209 | Premature ovarian failure | MP:0011125 | decreased primary ovarian follicle number | fewer than normal numbers of the ovarian follicle prior to the appearance of an antrum, normally marked by developmental changes in the primary oocyte and follicular cells so that the latter form one or more layers of cuboidal or columnar cells; the folli |
| HP:0001647 | Bicuspid aortic valve | MP:0010620 | thick mitral valve | an increase in the ratio of the mitral valve wall thickness to the atrioventricular septum thickness |
Mapped by homologous gene(Total Items:79) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000837 | Increased circulating gonadotropin level | MP:0014193 | decreased epididymal cell proliferation | decrease in the expansion rate of any epididymal cell population by cell division |
| HP:0000739 | Anxiety | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001385 | Hip dysplasia | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| HP:0001045 | Vitiligo | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000987 | Atypical scarring of skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0009759 | Neck pterygia | MP:0012055 | abnormal phrenic nerve innervation pattern to diaphragm | any changes in the placement, morphology or number of the portion of phrenic nerve fibers providing motor supply to the diaphragm |
| HP:0001647 | Bicuspid aortic valve | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0008897 | Postnatal growth retardation | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000508 | Ptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002613 | Biliary cirrhosis | MP:0014233 | bile duct epithelium hyperplasia | |
| HP:0001631 | Atria septal defect | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000471 | Gastrointestinal angiodysplasia | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0000474 | Thickened nuchal skin fold | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000476 | Cystic hygroma | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0000708 | Behavioral abnormality | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001657 | Prolonged QT interval | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0006709 | Aplasia/Hypoplasia of the nipples | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| HP:0006610 | Wide intermamillary distance | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0000995 | Melanocytic nevus | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000486 | Strabismus | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0010044 | Short 4th metacarpal | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| HP:0005294 | Arterial dissection | MP:0011575 | dilated aorta bulb | the luminal space of the aorta bulb is increased in volume or area, usually with an increase of contained fluid |
| HP:0004383 | Hypoplastic left heart | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0004322 | Short stature | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001680 | Coarctation of aorta | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000347 | Micrognathia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001812 | Hyperconvex fingernails | MP:0013242 | abnormal amino acid metabolism | any anomaly in the chemical reactions and pathways involving an amino acid, including metabolic, catabolic and biosynthetic processes |
| HP:0008222 | Female infertility | MP:0013395 | eyelid hypoplasia | underdevelopment or reduced size of the skin folds covering the front of the eyeball, usually due to a decreased cell number |
| HP:0003186 | Inverted nipples | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| HP:0002705 | High, narrow palate | MP:0013600 | testis degeneration | a retrogressive impairment of function or destruction of either or both of the male reproductive glands |
| HP:0007477 | Abnormal dermatoglyphics | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0001004 | Lymphedema | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0007018 | Attention deficit hyperactivity disorder | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0002037 | Inflammation of the large intestine | MP:0013803 | increased IgG2 level | greater than normal immunoglobulin class G2 level |
| HP:0002960 | Autoimmunity | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001395 | Hepatic fibrosis | MP:0020134 | abnormal gallbladder size | an anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile |
| HP:0000403 | Recurrent otitis media | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001510 | Growth delay | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0001231 | Abnormality of the fingernails | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100646 | Thyroiditis | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0000939 | Osteoporosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000938 | Osteopenia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002162 | Low posterior hairline | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001800 | Hypoplastic toenails | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000086 | Ectopic kidney | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0000767 | Pectus excavatum | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002910 | Elevated hepatic transaminases | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0001513 | Obesity | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000470 | Short neck | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000786 | Primary amenorrhea | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005113 | Dilatation of the aortic arch | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001831 | Short toe | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000823 | Delayed puberty | MP:0020087 | increased susceptibility to non-insulin-dependent diabetes | increased likelihood to develop non-insulin-dependent diabetes |
| HP:0003764 | Nevus | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0000150 | Gonadoblastoma | MP:0013745 | abnormal eyelid margin morphology | any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium |
| HP:0002967 | Cubitus valgus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100625 | Enlarged thorax | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000218 | High palate | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000286 | Epicanthus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000869 | Secondary amenorrhea | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001394 | Cirrhosis | MP:0020134 | abnormal gallbladder size | an anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile |
| HP:0001658 | Myocardial infarction | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001397 | Hepatic steatosis | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0000842 | Hyperinsulinemia | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0000716 | Depression | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002750 | Delayed skeletal maturation | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000872 | Hashimoto thyroiditis | MP:0012431 | increased lymphoma incidence | greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period |
| HP:0000369 | Low-set ears | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0008209 | Premature ovarian failure | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0004349 | Reduced bone mineral density | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002647 | Aortic dissection | MP:0012125 | decreased bronchoconstrictive response | reduction in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography |
| HP:0002611 | Cholestatic liver disease | MP:0012676 | dilated brain ventricles | the luminal space of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord is increased in volume or area, usually with an increase in contained fluid |
| HP:0002608 | Celiac disease | MP:0012113 | decreased inner cell mass proliferation | |
| HP:0000465 | Webbed neck | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000085 | Horseshoe kidney | MP:0014044 | absent cardiac outflow tract | absence of or complete failure to form the common arterial trunk that normally forms the aorta and pulmonary artery and the ventricular outflow regions |
| HP:0000822 | Hypertension | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0008356 | Combined hyperlipidemia | MP:0011087 | neonatal lethality, complete penetrance | death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0) |
| Disease ID | 340 |
|---|---|
| Disease | turner syndrome |
| Case | (Waiting for update.) |