eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| leber congenital amaurosis | ||||
| Disease ID | 189 |
|---|---|
| Disease | leber congenital amaurosis |
| Definition | A rare degenerative inherited eye disease that appears at birth or in the first few months of life that results in a loss of vision. Not to be confused with LEBER HEREDITARY OPTIC NEUROPATHY, the disease is thought to be caused by abnormal development of PHOTORECEPTOR CELLS in the RETINA, or by the extremely premature degeneration of retinal cells. |
| Synonym | abiotrophies, leber abiotrophy, leber amauroses, leber congenital amauroses, leber's amaurosis congenital lebers amaurosis leber's congenital amaurosis, leber congenital amaurosis, leber's blindness, congenital retinal blindnesses, congenital retinal congenital amauroses, leber congenital amaurosis, leber congenital retinal blindness congenital retinal blindnesses crb - congenital retinal blindness leber abiotrophies leber abiotrophy leber amaurosis leber congenital amauroses leber congenital amaurosis [disease/finding] leber congenital tapetoretinal degeneration leber's amauroses leber's amaurosis leber's amaurosis (disorder) leber's congenital amaurosis leber's disease lebers amaurosis retinal blindnesses, congenital |
| Orphanet | |
| DOID | |
| UMLS | C0339527 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:6) C0035334 | retinitis pigmentosa | 1 C0018552 | hamartoma | 1 C0035333 | retinitis | 1 C0456909 | blindness | 1 C0456909 | vision loss | 1 C0035305 | retinal detachment | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:28) 23746 | AIPL1 | ORPHANET;GHR;UniProtKB-KW 4647 | MYO7A | UniProtKB-KW 80184 | CEP290 | ORPHANET;GHR;UniProtKB-KW 5189 | PEX1 | CLINVAR 3614 | IMPDH1 | CTD_human;ORPHANET;GHR;UniProtKB-KW 26146 | TRAF3IP1 | UniProtKB-KW 57096 | RPGRIP1 | CTD_human;ORPHANET;GHR;UniProtKB-KW 343035 | RD3 | ORPHANET;GHR;UniProtKB-KW 23418 | CRB1 | CTD_human;ORPHANET;GHR;UniProtKB-KW 9657 | IQCB1 | ORPHANET;UniProtKB-KW 25794 | FSCN2 | CLINVAR 7399 | USH2A | CLINVAR 3000 | GUCY2D | ORPHANET;GHR;UniProtKB-KW 57728 | WDR19 | UniProtKB-KW 10806 | SDCCAG8 | UniProtKB-KW 9227 | LRAT | CTD_human;ORPHANET;GHR;UniProtKB-KW 145226 | RDH12 | ORPHANET;GHR;UniProtKB-KW 261734 | NPHP4 | UniProtKB-KW 6121 | RPE65 | CTD_human;ORPHANET;GHR;UniProtKB-KW 1406 | CRX | CTD_human;ORPHANET;GHR;UniProtKB-KW 167691 | LCA5 | ORPHANET;GHR;UniProtKB-KW 9742 | IFT140 | ORPHANET 392255 | GDF6 | ORPHANET;UniProtKB-KW 3769 | KCNJ13 | ORPHANET;UniProtKB-KW 55812 | SPATA7 | CTD_human;ORPHANET;GHR;UniProtKB-KW 64802 | NMNAT1 | CTD_human;ORPHANET;UniProtKB-KW 7287 | TULP1 | ORPHANET;GHR;UniProtKB-KW 1261 | CNGA3 | UniProtKB-KW |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:8) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:177) 24 | ABCA4 | 3.386 | DISEASES 39 | ACAT2 | 1.645 | DISEASES 2334 | AFF2 | 1.175 | DISEASES 174 | AFP | 2.42 | DISEASES 23746 | AIPL1 | 6.815 | DISEASES 501 | ALDH7A1 | 1.378 | DISEASES 238 | ALK | 2.681 | DISEASES 491 | ATP2B2 | 1.969 | DISEASES 10317 | B3GALT5 | 1.469 | DISEASES 83875 | BCO2 | 1.627 | DISEASES 91653 | BOC | 1.845 | DISEASES 388939 | C2orf71 | 1.488 | DISEASES 57010 | CABP4 | 1.389 | DISEASES 801 | CALM1 | 2.437 | DISEASES 857 | CAV1 | 1.261 | DISEASES 285331 | CCDC66 | 2.225 | DISEASES 9332 | CD163 | 1.958 | DISEASES 914 | CD2 | 1.621 | DISEASES 959 | CD40LG | 1.622 | DISEASES 921 | CD5 | 2.62 | DISEASES 4267 | CD99 | 2.945 | DISEASES 92211 | CDHR1 | 2.403 | DISEASES 80184 | CEP290 | 6.049 | DISEASES 375298 | CERKL | 1.338 | DISEASES 1069 | CETN2 | 2.149 | DISEASES 8218 | CLTCL1 | 1.502 | DISEASES 23059 | CLUAP1 | 2.212 | DISEASES 1259 | CNGA1 | 1.455 | DISEASES 54875 | CNTLN | 3.221 | DISEASES 1378 | CR1 | 1.9 | DISEASES 1380 | CR2 | 2.395 | DISEASES 23418 | CRB1 | 6.645 | DISEASES 286204 | CRB2 | 4.736 | DISEASES 92359 | CRB3 | 3.924 | DISEASES 1491 | CTH | 1.032 | DISEASES 1503 | CTPS1 | 1.034 | DISEASES 5476 | CTSA | 3.198 | DISEASES 1576 | CYP3A4 | 3.312 | DISEASES 1622 | DBI | 2.169 | DISEASES 54788 | DNAJB12 | 1.946 | DISEASES 1791 | DNTT | 1.876 | DISEASES 1942 | EFNA1 | 2.281 | DISEASES 1982 | EIF4G2 | 1.015 | DISEASES 1969 | EPHA2 | 1.817 | DISEASES 346007 | EYS | 2.721 | DISEASES 25794 | FSCN2 | 2.346 | DISEASES 2526 | FUT4 | 4.418 | DISEASES 2530 | FUT8 | 1.747 | DISEASES 53827 | FXYD5 | 2.012 | DISEASES 25801 | GCA | 1.036 | DISEASES 2730 | GCLM | 1.43 | DISEASES 89944 | GLB1L2 | 2.929 | DISEASES 112937 | GLB1L3 | 3.238 | DISEASES 346562 | GNAT3 | 2.554 | DISEASES 2782 | GNB1 | 1.519 | DISEASES 151306 | GPBAR1 | 3.249 | DISEASES 6011 | GRK1 | 3.745 | DISEASES 26762 | HAVCR1 | 1.201 | DISEASES 3039 | HBA1 | 1.599 | DISEASES 84667 | HES7 | 1.372 | DISEASES 3105 | HLA-A | 1.324 | DISEASES 9742 | IFT140 | 3.578 | DISEASES 3614 | IMPDH1 | 3.435 | DISEASES 3617 | IMPG1 | 2.679 | DISEASES 3652 | IPP | 1.361 | DISEASES 3683 | ITGAL | 1.594 | DISEASES 3767 | KCNJ11 | 1.417 | DISEASES 3768 | KCNJ12 | 1.235 | DISEASES 3772 | KCNJ15 | 1.624 | DISEASES 56479 | KCNQ5 | 1.922 | DISEASES 169522 | KCNV2 | 1.258 | DISEASES 22944 | KIN | 1.14 | DISEASES 3880 | KRT19 | 1.516 | DISEASES 3855 | KRT7 | 3.077 | DISEASES 167691 | LCA5 | 5.705 | DISEASES 3963 | LGALS7 | 1.386 | DISEASES 8825 | LIN7A | 2.604 | DISEASES 84823 | LMNB2 | 1.137 | DISEASES 9227 | LRAT | 4.468 | DISEASES 987 | LRBA | 2.553 | DISEASES 51599 | LSR | 1.186 | DISEASES 4097 | MAFG | 2.423 | DISEASES 4293 | MAP3K9 | 1.38 | DISEASES 4151 | MB | 1.13 | DISEASES 83552 | MFRP | 1.485 | DISEASES 8972 | MGAM | 2.408 | DISEASES 25834 | MGAT4C | 3.898 | DISEASES 54903 | MKS1 | 2.163 | DISEASES 2315 | MLANA | 1.92 | DISEASES 4311 | MME | 2.426 | DISEASES 4338 | MOCS2 | 1.215 | DISEASES 8777 | MPDZ | 3.217 | DISEASES 4538 | MT-ND4 | 1.977 | DISEASES 91807 | MYLK3 | 1.29 | DISEASES 4647 | MYO7A | 2.074 | DISEASES 8648 | NCOA1 | 1.288 | DISEASES 7080 | NKX2-1 | 1.157 | DISEASES 64802 | NMNAT1 | 5.085 | DISEASES 27031 | NPHP3 | 1.894 | DISEASES 261734 | NPHP4 | 2.632 | DISEASES 9971 | NR1H4 | 3.316 | DISEASES 8856 | NR1I2 | 4.187 | DISEASES 9970 | NR1I3 | 2.817 | DISEASES 4901 | NRL | 3.65 | DISEASES 51667 | NUB1 | 4.223 | DISEASES 4975 | OMP | 1.226 | DISEASES 94233 | OPN4 | 1.862 | DISEASES 5015 | OTX2 | 2.203 | DISEASES 9060 | PAPSS2 | 2.835 | DISEASES 5079 | PAX5 | 2.169 | DISEASES 5142 | PDE4B | 1.521 | DISEASES 5158 | PDE6B | 1.788 | DISEASES 5146 | PDE6C | 1.034 | DISEASES 5148 | PDE6G | 2.548 | DISEASES 9260 | PDLIM7 | 1.734 | DISEASES 5236 | PGM1 | 2.119 | DISEASES 10908 | PNPLA6 | 1.048 | DISEASES 282809 | POC1B | 2.114 | DISEASES 5450 | POU2AF1 | 1.693 | DISEASES 56980 | PRDM10 | 1.175 | DISEASES 26121 | PRPF31 | 1.61 | DISEASES 5719 | PSMD13 | 3.161 | DISEASES 5786 | PTPRA | 2.336 | DISEASES 5787 | PTPRB | 1.855 | DISEASES 5788 | PTPRC | 5.358 | DISEASES 5789 | PTPRD | 1.382 | DISEASES 201475 | RAB12 | 1.759 | DISEASES 343035 | RD3 | 3.668 | DISEASES 51109 | RDH11 | 1.772 | DISEASES 112724 | RDH13 | 2.428 | DISEASES 5995 | RGR | 2.815 | DISEASES 22999 | RIMS1 | 1.293 | DISEASES 55819 | RNF130 | 1.496 | DISEASES 7955 | RNF217-AS1 | 4.534 | DISEASES 6103 | RPGR | 4.029 | DISEASES 57096 | RPGRIP1 | 6.313 | DISEASES 23322 | RPGRIP1L | 2.519 | DISEASES 6256 | RXRA | 2.029 | DISEASES 6280 | S100A9 | 3.754 | DISEASES 6297 | SALL2 | 1.276 | DISEASES 10806 | SDCCAG8 | 2.032 | DISEASES 64218 | SEMA4A | 1.202 | DISEASES 5265 | SERPINA1 | 1.403 | DISEASES 12 | SERPINA3 | 2.602 | DISEASES 388336 | SHISA6 | 2.387 | DISEASES 387700 | SLC16A12 | 1.945 | DISEASES 123264 | SLC51B | 2.295 | DISEASES 100126781 | SNAR-F | 1.395 | DISEASES 574042 | SNORA10 | 3.272 | DISEASES 9304 | SNORD22 | 1.77 | DISEASES 6667 | SP1 | 1.091 | DISEASES 55812 | SPATA7 | 4.775 | DISEASES 6693 | SPN | 4.087 | DISEASES 9806 | SPOCK2 | 1.608 | DISEASES 6429 | SRSF4 | 1.496 | DISEASES 6430 | SRSF5 | 1.129 | DISEASES 6760 | SS18 | 1.405 | DISEASES 55576 | STAB2 | 1.423 | DISEASES 27067 | STAU2 | 2.222 | DISEASES 25830 | SULT4A1 | 1.255 | DISEASES 80312 | TET1 | 2.911 | DISEASES 7072 | TIA1 | 2.331 | DISEASES 51259 | TMEM216 | 1.549 | DISEASES 91147 | TMEM67 | 2.368 | DISEASES 391712 | TRIM61 | 2.959 | DISEASES 55503 | TRPV6 | 1.253 | DISEASES 10194 | TSHZ1 | 1.664 | DISEASES 255220 | TXNDC8 | 2.358 | DISEASES 7296 | TXNRD1 | 1.271 | DISEASES 6675 | UAP1 | 1.344 | DISEASES 54659 | UGT1A3 | 1.84 | DISEASES 10941 | UGT2A1 | 2.345 | DISEASES 7421 | VDR | 3.551 | DISEASES 30813 | VSX1 | 1.787 | DISEASES 164684 | WBP2NL | 1.093 | DISEASES 57728 | WDR19 | 1.436 | DISEASES 23038 | WDTC1 | 1.495 | DISEASES |
| Locus | Symbol | Locus(Total Locus:19) |
| Disease ID | 189 |
|---|---|
| Disease | leber congenital amaurosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:16) HP:0000639 | Nystagmus HP:0001263 | Global developmental delay HP:0001250 | Seizures HP:0004374 | Hemiplegia/hemiparesis HP:0012795 | Abnormality of the optic disc HP:0000518 | Cataract HP:0000563 | Keratoconus HP:0000365 | Hearing impairment HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis HP:0001141 | Severe visual impairment HP:0002084 | Encephalocele HP:0001252 | Muscular hypotonia HP:0002269 | Abnormality of neuronal migration HP:0007703 | Abnormality of retinal pigmentation HP:0000512 | Abnormal electroretinogram HP:0001249 | Intellectual disability |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:10) HP:0000572 | Visual loss | 2 HP:0000510 | Retinitis pigmentosa | 1 HP:0007099 | Arnold Chiari type I malformation | 1 HP:0000505 | Poor vision | 1 HP:0000541 | Detached retina | 1 HP:0010566 | Hamartoma | 1 HP:0001263 | Developmental retardation | 1 HP:0000618 | Blindness | 1 HP:0012778 | Retinal astrocytic hamartoma | 1 HP:0012758 | Neurodevelopmental delay | 1 |
| Disease ID | 189 |
|---|---|
| Disease | leber congenital amaurosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:4) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Manually Genotypes:3) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| RPE65 | c.886dupA | doi:10.1038/gim.2015.123 | Expanded genetic screening panel for the Ashkenazi Jewish population |
| RPE65 | c.361dupT | doi:10.1038/gim.2015.123 | Expanded genetic screening panel for the Ashkenazi Jewish population |
| LCA5 | c.835C>T41 | 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:16) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894470 | 17389517 | 145226 | RDH12 | umls:C0339527 | BeFree | The retinal disease in persons with RDH12 mutations in the homozygous (p.G127X, p.Q189X, p.Y226C, p.A269GfsX1, and p.L274P) or compound heterozygous state (p.R65X/p.A269GfsX1, p.H151D/p.T155I, p.H151D/p.A269GfsX1) was diagnosed initially as Leber congenital amaurosis (LCA) or early-onset retinitis pigmentosa. | 0.122714419 | 2007 | RDH12 | 14 | 67727097 | C | T |
| rs104894474 | 17389517 | 145226 | RDH12 | umls:C0339527 | BeFree | The retinal disease in persons with RDH12 mutations in the homozygous (p.G127X, p.Q189X, p.Y226C, p.A269GfsX1, and p.L274P) or compound heterozygous state (p.R65X/p.A269GfsX1, p.H151D/p.T155I, p.H151D/p.A269GfsX1) was diagnosed initially as Leber congenital amaurosis (LCA) or early-onset retinitis pigmentosa. | 0.122714419 | 2007 | RDH12 | 14 | 67726086 | G | T |
| rs104894475 | 17389517 | 145226 | RDH12 | umls:C0339527 | BeFree | The retinal disease in persons with RDH12 mutations in the homozygous (p.G127X, p.Q189X, p.Y226C, p.A269GfsX1, and p.L274P) or compound heterozygous state (p.R65X/p.A269GfsX1, p.H151D/p.T155I, p.H151D/p.A269GfsX1) was diagnosed initially as Leber congenital amaurosis (LCA) or early-onset retinitis pigmentosa. | 0.122714419 | 2007 | RDH12 | 14 | 67726983 | C | A,G |
| rs104894673 | 9931337 | 1406 | CRX | umls:C0339527 | BeFree | Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function. | 0.24434307 | 1999 | CRX | 19 | 47839335 | C | T |
| rs104894673 | 24516401 | 1406 | CRX | umls:C0339527 | BeFree | R90W mice carry a substitution mutation in the CRX homeodomain, Arg90Trp, which is associated with dominant mild late-onset CoRD and recessive LCA. | 0.24434307 | 2013 | CRX | 19 | 47839335 | C | T |
| rs104894673 | 10967037 | 1406 | CRX | umls:C0339527 | BeFree | The R90W mutation of Crx found in LCA disrupts the nuclear transport of the mutant protein. | 0.24434307 | 2000 | CRX | 19 | 47839335 | C | T |
| rs121434337 | 17389517 | 145226 | RDH12 | umls:C0339527 | BeFree | The retinal disease in persons with RDH12 mutations in the homozygous (p.G127X, p.Q189X, p.Y226C, p.A269GfsX1, and p.L274P) or compound heterozygous state (p.R65X/p.A269GfsX1, p.H151D/p.T155I, p.H151D/p.A269GfsX1) was diagnosed initially as Leber congenital amaurosis (LCA) or early-onset retinitis pigmentosa. | 0.122714419 | 2007 | RDH12 | 14 | 67726996 | C | T |
| rs28940313 | 17389517 | 145226 | RDH12 | umls:C0339527 | BeFree | The retinal disease in persons with RDH12 mutations in the homozygous (p.G127X, p.Q189X, p.Y226C, p.A269GfsX1, and p.L274P) or compound heterozygous state (p.R65X/p.A269GfsX1, p.H151D/p.T155I, p.H151D/p.A269GfsX1) was diagnosed initially as Leber congenital amaurosis (LCA) or early-onset retinitis pigmentosa. | 0.122714419 | 2007 | ZFYVE26;RDH12 | 14 | 67729209 | A | G |
| rs376633374 | NA | 25794 | FSCN2 | umls:C0339527 | CLINVAR | NA | 0.12 | NA | FSCN2 | 17 | 81528603 | G | - |
| rs527236126 | NA | 7399 | USH2A | umls:C0339527 | CLINVAR | NA | 0.12 | NA | USH2A | 1 | 215650692 | G | A |
| rs61750168 | 20050595 | 3000 | GUCY2D | umls:C0339527 | BeFree | A similar effect was observed with another LCA-related mutation, R768W, in the same domain of RetGC1. | 0.129771907 | 2010 | GUCY2D | 17 | 8013918 | C | G,T |
| rs61750420 | NA | 5189 | PEX1 | umls:C0339527 | CLINVAR | NA | 0.12 | NA | PEX1 | 7 | 92501562 | C | T |
| rs62636275 | 16543197 | 23418 | CRB1 | umls:C0339527 | BeFree | A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis. | 0.252953265 | 2006 | CRB1 | 1 | 197435170 | G | A |
| rs62636281 | 17660513 | 23418 | CRB1 | umls:C0339527 | BeFree | The N1317H substitution associated with Leber congenital amaurosis results in impaired interdomain packing in human CRB1 epidermal growth factor-like (EGF) domains. | 0.252953265 | 2007 | CRB1 | 1 | 197442236 | A | C |
| rs62636299 | 20043869 | 6121 | RPE65 | umls:C0339527 | BeFree | Here we compared the impacts of two mutations in RPE65, E417Q identified in patients with Leber congenital amaurosis (LCA), and E417D on isomerohydrolase activity. | 0.255743629 | 2010 | RPE65 | 1 | 68431371 | C | G |
| rs62645748 | 18334942 | 23418 | CRB1 | umls:C0339527 | BeFree | Analysis using the LCA chip revealed the p.Cys948Tyr mutation in CRB1 in heterozygous state. | 0.252953265 | 2008 | CRB1 | 1 | 197434706 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:7) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001141 | Severe visual impairment | 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:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0002269 | Abnormality of neuronal migration | MP:0012129 | failure of blastocyst formation | inability to form a blastocyst from a solid ball of cells known as a morula |
| 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:0007703 | Abnormality of retinal pigmentation | 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:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 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:0012795 | Abnormality of the optic disc | MP:0012168 | abnormal optic placode morphology | any structural anomaly of the paired thickenings of surface ectoderm that become invaginated to form the embryonic lens vesicles |
Mapped by homologous gene(Total Items:16) | ||||
|---|---|---|---|---|
| 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:0012795 | Abnormality of the optic disc | MP:0013791 | absent external nares | absence or failure to form both of the anterior openings to the nasal cavity |
| 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:0002269 | Abnormality of neuronal migration | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000518 | Cataract | 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:0000512 | Abnormal electroretinogram | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0007703 | Abnormality of retinal pigmentation | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0000563 | Keratoconus | MP:0013743 | ciliary body hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the thickened portion of the vascular tunic which lies between the choroid and the iris |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | MP:0013214 | decreased embryonic neuroepithelium primary cilium number | reduced number of the primary non-motile microtubule-based structures of the embryonic neuroepithelium which are typically short and straight, project apically into the neural tube lumen, and play an essential role in Sonic hedgehog (Shh) signalling and n |
| HP:0002084 | Encephalocele | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001141 | Severe visual impairment | MP:0014059 | abnormal photoreceptor connecting cilium morphology | any structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments |
| HP:0000639 | Nystagmus | 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:0004374 | Hemiplegia/hemiparesis | 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 |
| Disease ID | 189 |
|---|---|
| Disease | leber congenital amaurosis |
| Case | (Waiting for update.) |