eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| medulloblastoma | ||||
| Disease ID | 354 |
|---|---|
| Disease | medulloblastoma |
| Definition | A malignant neoplasm that may be classified either as a glioma or as a primitive neuroectodermal tumor of childhood (see NEUROECTODERMAL TUMOR, PRIMITIVE). The tumor occurs most frequently in the first decade of life with the most typical location being the cerebellar vermis. Histologic features include a high degree of cellularity, frequent mitotic figures, and a tendency for the cells to organize into sheets or form rosettes. Medulloblastoma have a high propensity to spread throughout the craniospinal intradural axis. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2060-1) |
| Synonym | [m]medulloblastoma nos [m]medulloblastoma nos (morphologic abnormality) brain medulloblastoma tumors brain tumor, medulloblastoma brain, medulloblastoma intracranial neoplasm, medulloblastoma mdb mdb - medulloblastoma medulloblastoma (disorder) medulloblastoma (morphologic abnormality) medulloblastoma [disease/finding] medulloblastoma brain tumor medulloblastoma, malignant medulloblastoma, no icd-o subtype medulloblastoma, no icd-o subtype (morphologic abnormality) medulloblastoma, no international classification of diseases for oncology subtype medulloblastoma, no international classification of diseases for oncology subtype (morphologic abnormality) medulloblastoma, nos medulloblastomas |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0025149 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:28) C0020255 | hydrocephalus | 3 C0334583 | pilocytic astrocytoma | 2 C0206093 | primitive neuroectodermal tumor | 2 C0004114 | astrocytomas | 2 C0025007 | measles | 2 C0206093 | neuroectodermal tumors | 2 C0007117 | basal cell carcinoma | 1 C1302401 | colorectal adenoma | 1 C1368910 | mature teratoma | 1 C0392548 | cauda equina syndrome | 1 C0034013 | precocious puberty | 1 C0015625 | fanconi anemia | 1 C0280131 | ovarian teratoma | 1 C0021390 | inflammatory bowel disease | 1 C0078981 | arachnoid cyst | 1 C0017636 | glioblastoma | 1 C0334579 | anaplastic astrocytoma | 1 C0004114 | astrocytoma | 1 C0035078 | renal failure | 1 C0021831 | bowel disease | 1 C0022661 | chronic renal failure | 1 C1704231 | leptomeningeal metastases | 1 C0004779 | gorlin syndrome | 1 C0039144 | syringomyelia | 1 C0265240 | goldenhar syndrome | 1 C0013575 | ectodermal dysplasia | 1 C0334583 | pilocytic astrocytomas | 1 C0007117 | basal cell carcinoma of the skin | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:45) 23081 | KDM4C | CTD_human 23030 | KDM4B | CTD_human 5727 | PTCH1 | CTD_human 8643 | PTCH2 | CLINVAR;CTD_human;UNIPROT 6774 | STAT3 | CTD_human 92335 | STRADA | CTD_human 4609 | MYC | CTD_human 4352 | MPL | CTD_human 23476 | BRD4 | CTD_human 8019 | BRD3 | CTD_human 2313 | FLI1 | CTD_human 6277 | S100A6 | CTD_human 675 | BRCA2 | CLINVAR;CTD_human 7994 | KAT6A | CTD_human 5156 | PDGFRA | CTD_human 5015 | OTX2 | CTD_human 324 | APC | CTD_human;UNIPROT 1499 | CTNNB1 | CLINVAR;CTD_human;UNIPROT 2064 | ERBB2 | CTD_human 4613 | MYCN | CTD_human 23532 | PRAME | CTD_human 1786 | DNMT1 | CTD_human 1755 | DMBT1 | CTD_human 114826 | SMYD4 | CTD_human 11186 | RASSF1 | CTD_human 8660 | IRS2 | CTD_human 1021 | CDK6 | CTD_human 7409 | VAV1 | CTD_human 4610 | MYCL | CTD_human 5294 | PIK3CG | CTD_human 6502 | SKP2 | CTD_human 2100 | ESR2 | CTD_human 51684 | SUFU | CLINVAR;CTD_human;ORPHANET;UNIPROT 84456 | L3MBTL3 | CTD_human 83746 | L3MBTL2 | CTD_human 474 | ATOH1 | CTD_human 6275 | S100A4 | CTD_human 10389 | SCML2 | CTD_human 79813 | EHMT1 | CTD_human 29 | ABR | CTD_human 6447 | SCG5 | CTD_human 898 | CCNE1 | CTD_human 6046 | BRD2 | CTD_human 3090 | HIC1 | CTD_human 6281 | S100A10 | CTD_human |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:227) 55 | ACPP | 1.04 | DISEASES 116 | ADCYAP1 | 1.135 | DISEASES 259266 | ASPM | 1.18 | DISEASES 171023 | ASXL1 | 1.5 | DISEASES 546 | ATRX | 1.315 | DISEASES 9531 | BAG3 | 1.045 | DISEASES 54828 | BCAS3 | 1.271 | DISEASES 54880 | BCOR | 2.28 | DISEASES 627 | BDNF | 1.191 | DISEASES 128408 | BHLHE23 | 2.008 | DISEASES 648 | BMI1 | 3.274 | DISEASES 675 | BRCA2 | 1.61 | DISEASES 7862 | BRPF1 | 1.316 | DISEASES 682 | BSG | 1.341 | DISEASES 51759 | C9orf78 | 2.277 | DISEASES 781 | CACNA2D1 | 1.06 | DISEASES 8618 | CADPS | 1.585 | DISEASES 147968 | CAPN12 | 2.131 | DISEASES 841 | CASP8 | 2.829 | DISEASES 842 | CASP9 | 1.664 | DISEASES 28952 | CCDC22 | 1.134 | DISEASES 83605 | CCM2 | 1.045 | DISEASES 960 | CD44 | 1.219 | DISEASES 4267 | CD99 | 2.118 | DISEASES 995 | CDC25C | 1.03 | DISEASES 55536 | CDCA7L | 3.033 | DISEASES 1029 | CDKN2A | 2.026 | DISEASES 11200 | CHEK2 | 1.446 | DISEASES 58487 | CREBZF | 2.378 | DISEASES 1400 | CRMP1 | 1.736 | DISEASES 9696 | CROCC | 1.84 | DISEASES 1499 | CTNNB1 | 4.202 | DISEASES 8454 | CUL1 | 1.574 | DISEASES 10283 | CWC27 | 2.325 | DISEASES 7852 | CXCR4 | 1.68 | DISEASES 1654 | DDX3X | 3.522 | DISEASES 11325 | DDX42 | 1.644 | DISEASES 1719 | DHFR | 1.487 | DISEASES 23405 | DICER1 | 2.128 | DISEASES 115752 | DIS3L | 2.133 | DISEASES 22943 | DKK1 | 1.631 | DISEASES 1755 | DMBT1 | 2.865 | DISEASES 29103 | DNAJC15 | 1.201 | DISEASES 1786 | DNMT1 | 1.344 | DISEASES 1809 | DPYSL3 | 1.51 | DISEASES 80153 | EDC3 | 1.833 | DISEASES 1936 | EEF1D | 1.248 | DISEASES 1945 | EFNA4 | 1.189 | DISEASES 2027 | ENO3 | 1.376 | DISEASES 2045 | EPHA7 | 1.51 | DISEASES 83481 | EPPK1 | 1.505 | DISEASES 3266 | ERAS | 1.411 | DISEASES 2066 | ERBB4 | 2.344 | DISEASES 2100 | ESR2 | 2.153 | DISEASES 2104 | ESRRG | 1.297 | DISEASES 2130 | EWSR1 | 2.564 | DISEASES 2165 | F13B | 1.776 | DISEASES 2152 | F3 | 1.296 | DISEASES 2173 | FABP7 | 1.314 | DISEASES 116496 | FAM129A | 1.198 | DISEASES 79632 | FAM184A | 2.825 | DISEASES 55120 | FANCL | 3.52 | DISEASES 355 | FAS | 2.087 | DISEASES 356 | FASLG | 1.311 | DISEASES 129804 | FBLN7 | 2.03 | DISEASES 64839 | FBXL17 | 2.193 | DISEASES 2254 | FGF9 | 1.157 | DISEASES 2290 | FOXG1 | 2.122 | DISEASES 139628 | FOXR2 | 3.327 | DISEASES 2526 | FUT4 | 2.648 | DISEASES 2564 | GABRE | 1.034 | DISEASES 1647 | GADD45A | 1.06 | DISEASES 8522 | GAS7 | 1.858 | DISEASES 2665 | GDI2 | 1.096 | DISEASES 8328 | GFI1B | 2.717 | DISEASES 2736 | GLI2 | 4.409 | DISEASES 2737 | GLI3 | 4.422 | DISEASES 2778 | GNAS | 1.221 | DISEASES 2804 | GOLGB1 | 3.043 | DISEASES 56834 | GPR137 | 1.923 | DISEASES 9283 | GPR37L1 | 2.021 | DISEASES 8111 | GPR68 | 1.939 | DISEASES 2900 | GRIK4 | 1.539 | DISEASES 2925 | GRPR | 1.248 | DISEASES 2932 | GSK3B | 1.555 | DISEASES 3020 | H3F3A | 2.412 | DISEASES 3065 | HDAC1 | 1.781 | DISEASES 388585 | HES5 | 1.309 | DISEASES 3083 | HGFAC | 3.101 | DISEASES 3092 | HIP1 | 1.598 | DISEASES 8350 | HIST1H3A | 1.045 | DISEASES 8351 | HIST1H3D | 1.045 | DISEASES 8968 | HIST1H3F | 1.045 | DISEASES 8355 | HIST1H3G | 1.045 | DISEASES 8357 | HIST1H3H | 1.045 | DISEASES 8354 | HIST1H3I | 1.045 | DISEASES 3109 | HLA-DMB | 3.168 | DISEASES 3182 | HNRNPAB | 1.567 | DISEASES 3185 | HNRNPF | 1.091 | DISEASES 84842 | HPDL | 2.562 | DISEASES 3399 | ID3 | 1.588 | DISEASES 3418 | IDH2 | 1.033 | DISEASES 3456 | IFNB1 | 1.164 | DISEASES 3481 | IGF2 | 2.487 | DISEASES 3486 | IGFBP3 | 1.648 | DISEASES 359948 | IRF2BP2 | 1.302 | DISEASES 3714 | JAG2 | 1.53 | DISEASES 3736 | KCNA1 | 1.896 | DISEASES 3745 | KCNB1 | 1.281 | DISEASES 27133 | KCNH5 | 2.589 | DISEASES 147040 | KCTD11 | 4.585 | DISEASES 283219 | KCTD21 | 2.931 | DISEASES 200845 | KCTD6 | 2.591 | DISEASES 7403 | KDM6A | 2.534 | DISEASES 54596 | L1TD1 | 2.483 | DISEASES 3981 | LIG4 | 1.236 | DISEASES 389421 | LIN28B | 1.715 | DISEASES 348801 | LNP1 | 1.116 | DISEASES 4045 | LSAMP | 1.187 | DISEASES 55646 | LYAR | 1.62 | DISEASES 4133 | MAP2 | 2.503 | DISEASES 5609 | MAP2K7 | 1.132 | DISEASES 11184 | MAP4K1 | 1.163 | DISEASES 22919 | MAPRE1 | 1.228 | DISEASES 2011 | MARK2 | 1.055 | DISEASES 4151 | MB | 2.082 | DISEASES 55388 | MCM10 | 1.499 | DISEASES 4193 | MDM2 | 1.959 | DISEASES 9282 | MED14 | 1.505 | DISEASES 4318 | MMP9 | 1.541 | DISEASES 4536 | MT-ND2 | 2.855 | DISEASES 2475 | MTOR | 1.648 | DISEASES 83463 | MXD3 | 1.436 | DISEASES 4601 | MXI1 | 2.529 | DISEASES 4609 | MYC | 5.104 | DISEASES 10408 | MYCNOS | 1.455 | DISEASES 4635 | MYL4 | 1.499 | DISEASES 4637 | MYL6 | 1.03 | DISEASES 23040 | MYT1L | 1.213 | DISEASES 4753 | NELL2 | 1.288 | DISEASES 10763 | NES | 4.054 | DISEASES 4763 | NF1 | 1.917 | DISEASES 4771 | NF2 | 1.255 | DISEASES 4774 | NFIA | 1.732 | DISEASES 4803 | NGF | 2.072 | DISEASES 4821 | NKX2-2 | 1.203 | DISEASES 340371 | NRBP2 | 2.31 | DISEASES 4908 | NTF3 | 2.114 | DISEASES 4914 | NTRK1 | 2.941 | DISEASES 4916 | NTRK3 | 4.497 | DISEASES 10215 | OLIG2 | 1.275 | DISEASES 283093 | OR4C12 | 2.672 | DISEASES 5015 | OTX2 | 4.673 | DISEASES 124641 | OVCA2 | 2.293 | DISEASES 142 | PARP1 | 2.127 | DISEASES 5077 | PAX3 | 1.265 | DISEASES 5080 | PAX6 | 1.58 | DISEASES 5081 | PAX7 | 1.321 | DISEASES 7703 | PCGF2 | 1.965 | DISEASES 5111 | PCNA | 1.533 | DISEASES 5154 | PDGFA | 1.485 | DISEASES 5155 | PDGFB | 1.308 | DISEASES 56034 | PDGFC | 1.194 | DISEASES 26147 | PHF19 | 1.553 | DISEASES 5297 | PI4KA | 1.396 | DISEASES 10401 | PIAS3 | 1.402 | DISEASES 55022 | PID1 | 1.911 | DISEASES 5287 | PIK3C2B | 1.022 | DISEASES 126520 | PLK5 | 1.952 | DISEASES 5504 | PPP1R2 | 1.729 | DISEASES 59336 | PRDM13 | 2.216 | DISEASES 8842 | PROM1 | 4.085 | DISEASES 5727 | PTCH1 | 6.35 | DISEASES 8643 | PTCH2 | 3.57 | DISEASES 5728 | PTEN | 3.066 | DISEASES 51715 | RAB23 | 1.671 | DISEASES 11186 | RASSF1 | 2.363 | DISEASES 146713 | RBFOX3 | 2.877 | DISEASES 3516 | RBPJ | 1.31 | DISEASES 6045 | RNF2 | 1.498 | DISEASES 6091 | ROBO1 | 1.088 | DISEASES 9501 | RPH3AL | 2.658 | DISEASES 6224 | RPS20 | 1.154 | DISEASES 6281 | S100A10 | 1.184 | DISEASES 6295 | SAG | 1.826 | DISEASES 154075 | SAMD3 | 2.159 | DISEASES 10284 | SAP18 | 1.866 | DISEASES 54938 | SARS2 | 1.265 | DISEASES 357 | SHROOM2 | 1.668 | DISEASES 133482 | SLCO6A1 | 1.297 | DISEASES 84631 | SLITRK2 | 2.065 | DISEASES 139065 | SLITRK4 | 2.073 | DISEASES 26050 | SLITRK5 | 1.581 | DISEASES 84189 | SLITRK6 | 1.616 | DISEASES 6597 | SMARCA4 | 2.317 | DISEASES 692229 | SNORD105 | 1.864 | DISEASES 26806 | SNORD44 | 1.136 | DISEASES 6663 | SOX10 | 1.001 | DISEASES 6664 | SOX11 | 1.722 | DISEASES 6657 | SOX2 | 2.679 | DISEASES 6714 | SRC | 1.642 | DISEASES 6752 | SSTR2 | 2.062 | DISEASES 6772 | STAT1 | 1.518 | DISEASES 3925 | STMN1 | 1.68 | DISEASES 92335 | STRADA | 1.05 | DISEASES 51684 | SUFU | 5.816 | DISEASES 25777 | SUN2 | 1.074 | DISEASES 6847 | SYCP1 | 1.248 | DISEASES 79600 | TCTN1 | 1.599 | DISEASES 7004 | TEAD4 | 1.018 | DISEASES 60436 | TGIF2 | 2.149 | DISEASES 7150 | TOP1 | 1.783 | DISEASES 7161 | TP73 | 1.732 | DISEASES 10381 | TUBB3 | 2.377 | DISEASES 7326 | UBE2G1 | 2.056 | DISEASES 51465 | UBE2J1 | 1.909 | DISEASES 54579 | UGT1A5 | 1.375 | DISEASES 137970 | UNC5D | 1.366 | DISEASES 7874 | USP7 | 1.265 | DISEASES 7422 | VEGFA | 1.477 | DISEASES 7433 | VIPR1 | 1.089 | DISEASES 7490 | WT1 | 1.048 | DISEASES 7709 | ZBTB17 | 1.166 | DISEASES 57623 | ZFAT | 1.416 | DISEASES 9203 | ZMYM3 | 2.756 | DISEASES 7712 | ZNF157 | 2.339 | DISEASES 23140 | ZZEF1 | 2.859 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 354 |
|---|---|
| Disease | medulloblastoma |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:34) HP:0001263 | Global developmental delay HP:0001310 | Dysmetria HP:0008619 | Bilateral sensorineural hearing impairment HP:0100543 | Cognitive impairment HP:0002350 | Cerebellar cyst HP:0100526 | Neoplasm of the lung HP:0001251 | Ataxia HP:0011695 | Cerebellar hemorrhage HP:0002885 | Medulloblastoma HP:0010302 | Spinal cord tumor HP:0001254 | Lethargy HP:0001291 | Abnormality of the cranial nerves HP:0002516 | Increased intracranial pressure HP:0002017 | Nausea and vomiting HP:0005227 | Adenomatous colonic polyposis HP:0002073 | Progressive cerebellar ataxia HP:0003418 | Back pain HP:0002080 | Intention tremor HP:0004481 | Progressive macrocephaly HP:0012658 | Abnormal brain FDG positron emission tomography HP:0000651 | Diplopia HP:0000529 | Progressive visual loss HP:0009878 | Cerebellar ataxia associated with quadrupedal gait HP:0002910 | Elevated hepatic transaminases HP:0002321 | Vertigo HP:0003006 | Neuroblastoma HP:0005561 | Abnormality of bone marrow cell morphology HP:0007129 | Cerebellar medulloblastoma HP:0000737 | Irritability HP:0007824 | Total ophthalmoplegia HP:0007352 | Cerebellar calcifications HP:0000238 | Hydrocephalus HP:0002315 | Headache HP:0000270 | Delayed cranial suture closure |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:23) HP:0002664 | Neoplasia | 14 HP:0000238 | Nonsyndromal hydrocephalus | 3 HP:0030692 | Brain tumor | 2 HP:0002888 | Ependymoma | 2 HP:0030065 | Primitive neuroectodermal tumor | 2 HP:0000968 | Ectodermal dysplasia | 1 HP:0009592 | Astrocytoma | 1 HP:0012226 | Ovarian teratoma | 1 HP:0003774 | End-stage renal failure | 1 HP:0011695 | Cerebellar hemorrhage | 1 HP:0010302 | Tumor of the spinal cord | 1 HP:0100702 | Arachnoid cyst | 1 HP:0002671 | Basalioma | 1 HP:0002898 | Embryonal neoplasia | 1 HP:0007529 | Hidrotic ectodermal dysplasia | 1 HP:0003396 | Syringomyelia | 1 HP:0001596 | Hair loss | 1 HP:0009733 | Glioma | 1 HP:0002170 | Intracranial hemorrhage | 1 HP:0000826 | Precocious puberty | 1 HP:0100843 | Glioblastoma | 1 HP:0007476 | Anhidrotic ectodermal dysplasia | 1 HP:0000083 | Renal insufficiency | 1 |
| Disease ID | 354 |
|---|---|
| Disease | medulloblastoma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:16) C2364133 | infection C1608408 | malignant transformation C1442871 | craniosynostosis C0877584 | tumor hemorrhage C0854467 | myelosuppression C0679466 | cognitive deficits C0520679 | obstructive sleep apnea syndrome C0153690 | osseous metastasis C0153690 | metastases to bone C0153690 | bone metastases C0153676 | pulmonary metastases C0153676 | lung metastasis C0022364 | neoplasm of jaw C0019080 | hemorrhage C0008626 | chromosomal abnormality C0002793 | anaplasia |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:9) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1042522 | 22886512 | 7157 | TP53 | umls:C0025149 | BeFree | Prognostic value of the TP53 Arg72Pro single-nucleotide polymorphism and susceptibility to medulloblastoma in a cohort of Brazilian patients. | 0.022301841 | 2012 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 12684657 | 7157 | TP53 | umls:C0025149 | BeFree | Loss of heterozygosity and p53 polymorphism Pro72Arg in a young patient with medulloblastoma. | 0.022301841 | 2003 | TP53 | 17 | 7676154 | G | T,C |
| rs11540654 | 22886512 | 7157 | TP53 | umls:C0025149 | BeFree | Prognostic value of the TP53 Arg72Pro single-nucleotide polymorphism and susceptibility to medulloblastoma in a cohort of Brazilian patients. | 0.022301841 | 2012 | TP53 | 17 | 7676040 | C | T,G,A |
| rs121913400 | NA | 1499 | CTNNB1 | umls:C0025149 | CLINVAR | NA | 0.36706742 | NA | CTNNB1 | 3 | 41224610 | C | A,G,T |
| rs28942088 | NA | 51684 | SUFU | umls:C0025149 | CLINVAR | NA | 0.367891677 | NA | ACTR1A;SUFU | 10 | 102504196 | C | T |
| rs56126236 | NA | 8643 | PTCH2 | umls:C0025149 | CLINVAR | NA | 0.240271442 | NA | PTCH2 | 1 | 44829444 | AG | - |
| rs80358638 | 14559878 | 675 | BRCA2 | umls:C0025149 | BeFree | Two other kindreds each contained a Fanconi anemia-afflicted child who developed medulloblastoma; one child was of Latin American ancestry and a compound heterozygote for BRCA2*I2490T/ 5301insA and the other was African American and a compound heterozygote for BRCA2*Q3066X/E1308X. | 0.240814326 | 2003 | BRCA2 | 13 | 32338277 | G | T |
| rs80358785 | NA | 675 | BRCA2 | umls:C0025149 | CLINVAR | NA | 0.240814326 | NA | BRCA2 | 13 | 32340000 | C | A,G |
| rs80359604 | NA | 675 | BRCA2 | umls:C0025149 | CLINVAR | NA | 0.240814326 | NA | BRCA2 | 13 | 32329469 | GT | - |
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:0000529 | Progressive visual loss | MP:0010749 | absent visual evoked potential | absence of a characteristic electroencephalographic pattern recorded from the occipital area generated in response to retinal stimulation such as flashing lights or inverting a contrasting image; absence may indicate blindness |
| HP:0100526 | Neoplasm of the lung | MP:0004500 | increased incidence of tumors by ionizing radiation induction | higher than normal frequency of tumor incidence induced by radiation in which the individual particle or photon carries sufficient energy to completely remove an electron from its orbit; common types of this radiation include gamma-rays and X-rays |
| HP:0000270 | Delayed cranial suture closure | MP:0010743 | delayed suture closure | late onset of the fusion of the bones of the skull |
| HP:0002910 | Elevated hepatic transaminases | MP:0002628 | hepatic steatosis | an accumulation of fat deposits in the liver |
| HP:0001291 | Abnormality of the cranial nerves | MP:0008156 | decreased diameter of tibia | reduced width of the cross-sectional distance that extends from one lateral edge of the tibia, through its center and to the opposite lateral edge |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0005227 | Adenomatous colonic polyposis | MP:0002044 | increased colonic adenoma incidence | greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the colon, occurring in a specific population in a given time period |
| HP:0005561 | Abnormality of bone marrow cell morphology | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0008619 | Bilateral sensorineural hearing impairment | MP:0006325 | impaired hearing | reduced ability to perceive auditory stimuli |
| HP:0002017 | Nausea and vomiting | MP:0010426 | abnormal heart and great artery attachment | any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta |
| HP:0010302 | Spinal cord tumor | MP:0009277 | increased brain tumor incidence | greater than the expected number of abnormal rapidly proliferating cells in the brain, usually in the form of a distinct mass, occurring in a specific population in a given time period |
| HP:0002073 | Progressive cerebellar ataxia | MP:0001393 | ataxia | inability to coordinate voluntary muscular movements |
Mapped by homologous gene(Total Items:30) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000270 | Delayed cranial suture closure | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002315 | Headache | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002516 | Increased intracranial pressure | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0000529 | Progressive visual loss | 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:0008619 | Bilateral sensorineural hearing impairment | 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:0002080 | Intention tremor | 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:0000238 | Hydrocephalus | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0011695 | Cerebellar hemorrhage | MP:0010053 | decreased grip strength | reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire |
| HP:0100543 | Cognitive impairment | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002073 | Progressive cerebellar ataxia | 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:0003006 | Neuroblastoma | MP:0014130 | thymus cysts | presence of fluid-filled spaces lined by epithelium within the thymus; thymic cysts are rare mediastinal lesions and are thought to result from the congenital persistence of thymopharyngeal tracts and acquired, progressive cystic degeneration of thymic (H |
| HP:0001310 | Dysmetria | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0010302 | Spinal cord tumor | MP:0013611 | abnormal bile duct epithelium morphology | any structural anomaly of the epithelium lining the intrahepatic and extrahepatic bile ducts |
| HP:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000651 | Diplopia | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0002321 | Vertigo | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000737 | Irritability | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001263 | Global developmental delay | 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:0001291 | Abnormality of the cranial nerves | MP:0013906 | absent embryonic telencephalon | absence of the paired diverticula of the embryonic telencephalon, from which the forebrain develops |
| 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:0001254 | Lethargy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002350 | Cerebellar cyst | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0001251 | Ataxia | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0007352 | Cerebellar calcifications | MP:0013787 | photophobia | abnormal aversion or avoidance behavior in response to light; photophobia is symptom of abnormal intolerance to visual perception of light; as a medical symptom, photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the e |
| HP:0002885 | Medulloblastoma | MP:0014040 | increased cellular sensitivity to DNA damaging agents | greater incidence of cell death following exposure to agents that cause DNA damage |
| HP:0005561 | Abnormality of bone marrow cell morphology | MP:0014071 | increased cardiac muscle glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in heart muscle |
| HP:0005227 | Adenomatous colonic polyposis | MP:0012700 | abnormal endocardial heart tube morphology | any structural anomaly of the paired, longitudinal, endothelial-lined channels formed from the cardiogenic mesoderm in embryonic development; angiogenic cell clusters (aka angioblastic cords) located in a horse-shoe shape configuration in the cardiogenic |
| HP:0004481 | Progressive macrocephaly | 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:0100526 | Neoplasm of the lung | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0003418 | Back pain | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 354 |
|---|---|
| Disease | medulloblastoma |
| Case | (Waiting for update.) |