eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| fragile x syndrome | ||||
| Disease ID | 63 |
|---|---|
| Disease | fragile x syndrome |
| Definition | A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226) |
| Synonym | autism fragile syndrome x disorder fragile x syndrome fra(x) syndrome fragile syndrome x fragile x mental retardation syndrome fragile x syndrome (disorder) fragile x syndrome [disease/finding] fragile x syndrome autism fragile x syndromes fragile-x syndrome fraxa - fragile x syndrome fxs marker x syndrome marker x syndromes martin bell syndrome martin-bell syndrome mental retardation, x-linked, associated with marxq28 syndrome, fragile x syndrome, marker x syndrome, martin-bell syndromes, fragile x syndromes, marker x x fragile syndrome x linked mental retardation and macroorchidism x-linked mental retardation and macroorchidism |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0016667 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:15) C0004352 | autism | 11 C0025362 | mental retardation | 8 C0003467 | anxiety | 4 C0014544 | epilepsy | 2 C0021053 | immune dysfunction | 1 C0851578 | sleep disorders | 1 C0028754 | obesity | 1 C0175702 | williams-beuren syndrome | 1 C0014547 | focal epilepsy | 1 C0038220 | status epilepticus | 1 C0679466 | cognitive deficits | 1 C0027404 | narcolepsy | 1 C0003469 | anxiety disorder | 1 C0751265 | learning disabilities | 1 C0003469 | anxiety disorders | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:5) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:160) 9625 | AATK | 1.651 | DISEASES 104 | ADARB1 | 1.336 | DISEASES 2334 | AFF2 | 5.883 | DISEASES 3899 | AFF3 | 1.006 | DISEASES 265 | AMELX | 1.661 | DISEASES 367 | AR | 2.52 | DISEASES 23237 | ARC | 1.947 | DISEASES 10564 | ARFGEF2 | 1.484 | DISEASES 9823 | ARMCX2 | 2.866 | DISEASES 259266 | ASPM | 1.406 | DISEASES 23245 | ASTN2 | 1.502 | DISEASES 84938 | ATG4C | 1.757 | DISEASES 546 | ATRX | 1.607 | DISEASES 6314 | ATXN7 | 1.003 | DISEASES 6315 | ATXN8OS | 1.708 | DISEASES 100379571 | BACE1-AS | 1.968 | DISEASES 9774 | BCLAF1 | 1.136 | DISEASES 618 | BCYRN1 | 1.604 | DISEASES 627 | BDNF | 2.942 | DISEASES 497258 | BDNF-AS | 1.905 | DISEASES 659 | BMPR2 | 1.492 | DISEASES 801 | CALM1 | 1.198 | DISEASES 4076 | CAPRIN1 | 2.598 | DISEASES 833 | CARS | 1.578 | DISEASES 1038 | CDR1 | 1.184 | DISEASES 51286 | CEND1 | 1.896 | DISEASES 8545 | CGGBP1 | 3.451 | DISEASES 1268 | CNR1 | 1.795 | DISEASES 152330 | CNTN4 | 1.028 | DISEASES 64506 | CPEB1 | 1.181 | DISEASES 1385 | CREB1 | 1.108 | DISEASES 23191 | CYFIP1 | 3.914 | DISEASES 26999 | CYFIP2 | 3.377 | DISEASES 1730 | DIAPH2 | 1.148 | DISEASES 23405 | DICER1 | 3.166 | DISEASES 1741 | DLG3 | 3.525 | DISEASES 9228 | DLGAP2 | 1.671 | DISEASES 1785 | DNM2 | 1.128 | DISEASES 1826 | DSCAM | 2.053 | DISEASES 1977 | EIF4E | 2.898 | DISEASES 1979 | EIF4EBP2 | 1.427 | DISEASES 54942 | FAM206A | 1.963 | DISEASES 2332 | FMR1 | 9.368 | DISEASES 100126270 | FMR1-AS1 | 4.568 | DISEASES 668 | FOXL2 | 2.392 | DISEASES 118924 | FRA10AC1 | 2.733 | DISEASES 24140 | FTSJ1 | 2.725 | DISEASES 2395 | FXN | 1.923 | DISEASES 8087 | FXR1 | 6.428 | DISEASES 2534 | FYN | 1.855 | DISEASES 10146 | G3BP1 | 1.803 | DISEASES 2556 | GABRA3 | 1.352 | DISEASES 2563 | GABRD | 2.292 | DISEASES 2664 | GDI1 | 2.833 | DISEASES 2803 | GOLGA4 | 1.262 | DISEASES 10243 | GPHN | 2.132 | DISEASES 2897 | GRIK1 | 2.617 | DISEASES 2903 | GRIN2A | 1.669 | DISEASES 2868 | GRK4 | 1.415 | DISEASES 8359 | HIST1H4A | 1.537 | DISEASES 8366 | HIST1H4B | 1.537 | DISEASES 8364 | HIST1H4C | 1.537 | DISEASES 8360 | HIST1H4D | 1.535 | DISEASES 8367 | HIST1H4E | 1.537 | DISEASES 8361 | HIST1H4F | 1.537 | DISEASES 8294 | HIST1H4I | 1.537 | DISEASES 8363 | HIST1H4J | 1.537 | DISEASES 8362 | HIST1H4K | 1.537 | DISEASES 8368 | HIST1H4L | 1.537 | DISEASES 8370 | HIST2H4A | 1.537 | DISEASES 554313 | HIST2H4B | 1.537 | DISEASES 121504 | HIST4H4 | 1.537 | DISEASES 3178 | HNRNPA1 | 1.663 | DISEASES 3181 | HNRNPA2B1 | 2.11 | DISEASES 3190 | HNRNPK | 2.281 | DISEASES 9456 | HOMER1 | 2.569 | DISEASES 3064 | HTT | 1.67 | DISEASES 100750326 | HTT-AS | 2.677 | DISEASES 3423 | IDS | 2.165 | DISEASES 83943 | IMMP2L | 1.383 | DISEASES 729920 | ISPD | 1.058 | DISEASES 152789 | JAKMIP1 | 2.115 | DISEASES 3748 | KCNC3 | 1.129 | DISEASES 3751 | KCND2 | 2.093 | DISEASES 3755 | KCNG1 | 5.026 | DISEASES 30819 | KCNIP2 | 1.085 | DISEASES 80333 | KCNIP4 | 1.395 | DISEASES 57582 | KCNT1 | 2.622 | DISEASES 8242 | KDM5C | 1.746 | DISEASES 3980 | LIG3 | 2.45 | DISEASES 3984 | LIMK1 | 1.418 | DISEASES 84061 | MAGT1 | 1.269 | DISEASES 4128 | MAOA | 1.035 | DISEASES 55777 | MBD5 | 1.59 | DISEASES 10445 | MCRS1 | 1.526 | DISEASES 4204 | MECP2 | 3.328 | DISEASES 4318 | MMP9 | 1.782 | DISEASES 4336 | MOBP | 1.315 | DISEASES 4356 | MPP3 | 1.403 | DISEASES 2475 | MTOR | 2.875 | DISEASES 22871 | NLGN1 | 2.619 | DISEASES 54413 | NLGN3 | 2.777 | DISEASES 4842 | NOS1 | 1.003 | DISEASES 4857 | NOVA1 | 2.176 | DISEASES 4861 | NPAS1 | 1.909 | DISEASES 64067 | NPAS3 | 1.408 | DISEASES 9971 | NR1H4 | 3.384 | DISEASES 9378 | NRXN1 | 1.96 | DISEASES 9369 | NRXN3 | 1.079 | DISEASES 26747 | NUFIP1 | 3.451 | DISEASES 56001 | NXF2 | 2.494 | DISEASES 728343 | NXF2B | 2.494 | DISEASES 4983 | OPHN1 | 3.308 | DISEASES 5063 | PAK3 | 1.777 | DISEASES 23089 | PEG10 | 1.375 | DISEASES 8502 | PKP4 | 1.645 | DISEASES 5527 | PPP2R5C | 1.574 | DISEASES 5592 | PRKG1 | 1.156 | DISEASES 3276 | PRMT1 | 1.632 | DISEASES 84867 | PTPN5 | 1.374 | DISEASES 22931 | RAB18 | 1.232 | DISEASES 5879 | RAC1 | 1.654 | DISEASES 8480 | RAE1 | 2.016 | DISEASES 5902 | RANBP1 | 1.34 | DISEASES 100526737 | RBM14-RBM4 | 1.552 | DISEASES 5999 | RGS4 | 2.062 | DISEASES 60626 | RIC8A | 2.333 | DISEASES 6161 | RPL32 | 1.324 | DISEASES 6191 | RPS4X | 1.664 | DISEASES 6195 | RPS6KA1 | 1.9 | DISEASES 6197 | RPS6KA3 | 2.331 | DISEASES 388015 | RTL1 | 1.346 | DISEASES 100861563 | SCAANT1 | 2.686 | DISEASES 55209 | SETD5 | 1.819 | DISEASES 85358 | SHANK3 | 1.409 | DISEASES 57468 | SLC12A5 | 1.382 | DISEASES 6605 | SMARCE1 | 1.125 | DISEASES 10285 | SMNDC1 | 1.391 | DISEASES 6622 | SNCA | 1.74 | DISEASES 6683 | SPAST | 1.638 | DISEASES 246329 | STAC3 | 2.642 | DISEASES 6780 | STAU1 | 1.501 | DISEASES 8831 | SYNGAP1 | 1.716 | DISEASES 10716 | TBR1 | 1.072 | DISEASES 140597 | TCEAL2 | 2.733 | DISEASES 81550 | TDRD3 | 2.568 | DISEASES 7020 | TFAP2A | 1.214 | DISEASES 84548 | TMEM185A | 3.748 | DISEASES 8940 | TOP3B | 2.828 | DISEASES 64222 | TOR3A | 3.172 | DISEASES 10103 | TSPAN1 | 1.149 | DISEASES 7102 | TSPAN7 | 2.604 | DISEASES 7337 | UBE3A | 2.08 | DISEASES 89910 | UBE3B | 3.826 | DISEASES 101410542 | UCHL1-AS1 | 2.839 | DISEASES 10497 | UNC13B | 1.259 | DISEASES 7391 | USF1 | 1.682 | DISEASES 51481 | VCX3A | 1.495 | DISEASES 157680 | VPS13B | 1.908 | DISEASES 118813 | ZFYVE27 | 1.735 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) FMR1 | Xq27.3 |
| Disease ID | 63 |
|---|---|
| Disease | fragile x syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:39) HP:0002050 | Macroorchidism, postpubertal HP:0000767 | Funnel chest HP:0002003 | Large forehead HP:0100716 | Self-injurious behavior HP:0000246 | Sinusitis HP:0000256 | Macrocrania HP:0007165 | Subependymal neuronal heterotopia HP:0002342 | Intellectual disability, moderate HP:0000303 | Mandibular prognathia HP:0002007 | Frontal bossing HP:0000276 | Long face HP:0003564 | Folate-dependent fragile site at Xq28 HP:0000486 | Strabismus HP:0002167 | Neurological speech impairment HP:0002120 | Cerebral cortical atrophy HP:0000739 | Anxiety HP:0002020 | Gastroesophageal reflux HP:0001250 | Seizures HP:0000388 | Otitis media HP:0000256 | Macrocephaly HP:0000400 | Large ears HP:0001388 | Joint laxity HP:0002650 | Scoliosis HP:0000275 | Narrow face HP:0000389 | Chronic otitis media HP:0007018 | Attention deficit hyperactivity disorder HP:0000717 | Autism HP:0000303 | Increased size of lower jaw HP:0000053 | Macroorchidism HP:0000411 | Protruding ear HP:0001634 | Mitral valve prolapse HP:0002457 | Abnormal head movements HP:0001763 | Pes planus HP:0000280 | Coarse facial features HP:0000817 | Poor eye contact HP:0001252 | Muscular hypotonia HP:0008640 | Congenital macroorchidism HP:0005111 | Dilatation of the ascending aorta HP:0000752 | Hyperactive behavior |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:13) HP:0001249 | Mental retardation | 22 HP:0000717 | Autism | 12 HP:0100543 | Cognitive deficits | 5 HP:0000739 | Anxiety | 4 HP:0001631 | Atria septal defect | 4 HP:0030050 | Narcolepsy | 1 HP:0000737 | Irritability | 1 HP:0002487 | Muscle spasms | 1 HP:0002133 | Status epilepticus | 1 HP:0001250 | Seizures | 1 HP:0030223 | Perseveration | 1 HP:0001513 | Obesity | 1 HP:0000729 | Pervasive developmental disorder | 1 |
| Disease ID | 63 |
|---|---|
| Disease | fragile x syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:20) C1963184 | nystagmus C1963064 | anxiety C1961102 | acute lymphoblastic leukemia C1263846 | attention deficit hyperactivity disorder C0679466 | cognitive deficits C0422833 | ent symptoms C0238301 | nasopharyngeal carcinoma C0235031 | neurological symptoms C0233401 | psychiatric symptoms C0038220 | status epilepticus C0037315 | sleep apnea C0036868 | sex chromosome abnormalities C0036572 | seizures C0026351 | moderate mental retardation C0025362 | mental retardation C0025322 | premature menopause C0014544 | epilepsy C0008626 | abnormal chromosomes C0004352 | autism C0002736 | amyotrophic lateral sclerosis |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:8) C0004352 | autism | 12 C0025362 | mental retardation | 8 C0003467 | anxiety | 4 C0679466 | cognitive deficits | 2 C0014544 | epilepsy | 2 C0233401 | psychiatric symptoms | 1 C0036572 | seizures | 1 C0038220 | status epilepticus | 1 |
Manually Genotype(Total Manually Genotypes:2) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| FMR1 | expansion | doi:10.1038/gim.2015.55 | The Israeli national population program of genetic carrier screening for reproductive purposes |
| FMR1 | CGG repeat28 | doi:10.1038/gim.2015.123 | Expanded genetic screening panel for the Ashkenazi Jewish population |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:8) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121434622 | 9659908 | 2332 | FMR1 | umls:C0016667 | BeFree | FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association. | 0.747499467 | 1997 | FMR1 | X | 147936534 | T | A |
| rs121434622 | 11157796 | 2332 | FMR1 | umls:C0016667 | BeFree | We further suggest that the failure of FMRP to oligomerize, caused by the I304N mutation, may contribute to the pathophysiological events leading to fragile X syndrome. | 0.747499467 | 2001 | FMR1 | X | 147936534 | T | A |
| rs121434622 | 15805463 | 2332 | FMR1 | umls:C0016667 | BeFree | We conclude that mental retardation associated with the I304N mutation, and likely the Fragile-X syndrome more generally, may relate to a crucial role for RNAs harboring the kissing complex motif as targets for FMRP translational regulation. | 0.747499467 | 2005 | FMR1 | X | 147936534 | T | A |
| rs121434622 | 24448548 | 2332 | FMR1 | umls:C0016667 | BeFree | In over two decades since the discovery of FMR1, only a single missense mutation (p.(Ile304Asn)) has been reported as causing fragile X syndrome. | 0.747499467 | 2013 | FMR1 | X | 147936534 | T | A |
| rs121434622 | 15670167 | 2332 | FMR1 | umls:C0016667 | BeFree | However, a single missense mutation (I304N) in the second KH domain of FMRP gives rise to a particularly severe case of Fragile X syndrome. | 0.747499467 | 2005 | FMR1 | X | 147936534 | T | A |
| rs121434622 | NA | 2332 | FMR1 | umls:C0016667 | CLINVAR | NA | 0.747499467 | NA | FMR1 | X | 147936534 | T | A |
| rs182830086 | 22080836 | 2332 | FMR1 | umls:C0016667 | BeFree | To test this hypothesis in vivo, we employed neuronally targeted expression of three human FMR1 transgenes, including wild-type (hFMR1), dephosphomimetic (S500A-hFMR1) and phosphomimetic (S500D-hFMR1), in the Drosophila FXS disease model to investigate phosphorylation requirements. | 0.747499467 | 2012 | FMR1 | X | 147944892 | G | T |
| rs386602118 | 21890420 | 627 | BDNF | umls:C0016667 | BeFree | The Val66Met polymorphism in the BDNF gene may be involved in the alteration of normal secretion of the mature peptide and may modulate the epileptic phenotype observed in some patients with FXS. | 0.003452799 | 2011 | NA | NA | NA | NA | NA |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:12) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000388 | 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:0005111 | Dilatation of the ascending aorta | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0000276 | Long face | MP:0012546 | triangular face | a face whose lower half becomes relatively thin, approaching an appearance of a triangle with a tip facing downwards; usually associated with a prominent forehead and micrognathia |
| HP:0000389 | Chronic otitis media | MP:0001850 | increased susceptibility to otitis media | greater likelihood of middle ear inflammation, with an accumulation of a thick, mucous-like fluid; usually associated with a viral or bacterial respiratory infection |
| HP:0002120 | Cerebral cortical atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0100716 | Self-injurious behavior | MP:0009848 | increased horizontal stereotypic behavior | increase in the frequency of repetitive rearings (greater than one per second) |
| HP:0001634 | Mitral valve prolapse | MP:0010617 | thick mitral valve cusps | an increase in the ratio of the mitral valve cusp wall thickness to the atrioventricular septum thickness |
| HP:0000280 | Coarse facial features | MP:0008018 | increased facial tumor incidence | greater than the expected number of neoplasms on the face, usually in the form of a distinct mass, in a specific population in a given time period |
| HP:0000817 | Poor eye contact | MP:0005551 | abnormal eye electrophysiology | any functional anomaly of the eye as determined through electrophysiological recordings from single cells or summary recordings from multiple cells (e.g. electroretinogram) |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| 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:0000411 | Protruding ear | MP:0005105 | abnormal middle ear ossicle morphology | any structural anomaly of the three small bones of the middle ear |
Mapped by homologous gene(Total Items:37) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | 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:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000411 | Protruding ear | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000739 | Anxiety | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001634 | Mitral valve prolapse | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0007165 | Periventricular gray matter heterotopia | 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:0000817 | Poor eye contact | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0002120 | Cerebral cortical atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000275 | Narrow face | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001250 | Seizures | 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:0000303 | Mandibular prognathia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| 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:0000388 | Otitis media | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000276 | Long face | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002457 | Abnormal head movements | MP:0012144 | decreased b wave amplitude | reduction in the size (height or maximum displacement) of the b wave as measured in the electroretinogram |
| HP:0007018 | Attention deficit hyperactivity disorder | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0008640 | Congenital macroorchidism | MP:0012144 | decreased b wave amplitude | reduction in the size (height or maximum displacement) of the b wave as measured in the electroretinogram |
| HP:0000752 | Hyperactivity | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0100716 | Self-injurious behavior | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0001388 | Joint laxity | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| 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:0000246 | Sinusitis | MP:0020186 | altered susceptibility to bacterial infection | a change in the likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria |
| HP:0003564 | Folate-dependent fragile site at Xq28 | MP:0012144 | decreased b wave amplitude | reduction in the size (height or maximum displacement) of the b wave as measured in the electroretinogram |
| HP:0002020 | Gastroesophageal reflux | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0002003 | Large forehead | MP:0012253 | abnormal intersomitic vessel morphology | any structural anomaly of the primary blood vessel sprouts that originate from the dorsal aorta and posterior cardinal vein and align dorsoventrally at the myotomal boundaries between somites |
| HP:0002167 | Neurological speech impairment | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000280 | Coarse facial features | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0005111 | Dilatation of the ascending aorta | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000053 | Macroorchidism | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000400 | Macrotia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002050 | Macroorchidism, postpubertal | MP:0012144 | decreased b wave amplitude | reduction in the size (height or maximum displacement) of the b wave as measured in the electroretinogram |
| HP:0000389 | Chronic otitis media | 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:0000256 | Macrocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001763 | Pes planus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002342 | Intellectual disability, moderate | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002007 | Frontal bossing | 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:0000717 | Autism | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| Disease ID | 63 |
|---|---|
| Disease | fragile x syndrome |
| Case | (Waiting for update.) |