eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| aniridia | ||||
| Disease ID | 228 |
|---|---|
| Disease | aniridia |
| Definition | A congenital abnormality in which there is only a rudimentary iris. This is due to the failure of the optic cup to grow. Aniridia also occurs in a hereditary form, usually autosomal dominant. |
| Synonym | absent iris agenesis of iris an1 an2, formerly anirida aniridia (disorder) aniridia 1 aniridia [disease/finding] aniridia ii, formerly aplasia of iris aplasia of iris (disorder) congenital absence of iris congenital aniridia congenital aniridia (disorder) irideraemia irideremia |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0003076 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:12) C0017601 | glaucoma | 6 C0086543 | cataract | 5 C0235270 | keratopathy | 3 C0028738 | nystagmus | 2 C0027092 | myopia | 1 C0456909 | blindness | 1 C0010034 | corneal disease | 1 C0028754 | obesity | 1 C0271650 | glucose intolerance | 1 C0013592 | ectropion | 1 C0017612 | open angle glaucoma | 1 C0005745 | ptosis | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:80) 204 | AK2 | 1.91 | DISEASES 60529 | ALX4 | 2.571 | DISEASES 395 | ARHGAP6 | 2.4 | DISEASES 554 | AVPR2 | 1.232 | DISEASES 627 | BDNF | 1.728 | DISEASES 631 | BFSP1 | 2.033 | DISEASES 797 | CALCB | 2.121 | DISEASES 977 | CD151 | 2.052 | DISEASES 1121 | CHM | 1.987 | DISEASES 1123 | CHN1 | 1.027 | DISEASES 1413 | CRYBA4 | 2.4 | DISEASES 1415 | CRYBB2 | 1.9 | DISEASES 100506627 | DCDC5 | 4.616 | DISEASES 1638 | DCT | 1.293 | DISEASES 1641 | DCX | 1.396 | DISEASES 1745 | DLX1 | 1.936 | DISEASES 127343 | DMBX1 | 2.547 | DISEASES 120526 | DNAJC24 | 3.935 | DISEASES 80712 | ESX1 | 1.301 | DISEASES 51013 | EXOSC1 | 1.823 | DISEASES 2138 | EYA1 | 1.524 | DISEASES 2296 | FOXC1 | 4.435 | DISEASES 27022 | FOXD3 | 1.143 | DISEASES 2301 | FOXE3 | 3.892 | DISEASES 9573 | GDF3 | 2.714 | DISEASES 10223 | GPA33 | 2.137 | DISEASES 4935 | GPR143 | 1.773 | DISEASES 3052 | HCCS | 1.241 | DISEASES 390992 | HES3 | 2.081 | DISEASES 388585 | HES5 | 1.429 | DISEASES 23462 | HEY1 | 1.035 | DISEASES 3083 | HGFAC | 1.295 | DISEASES 55733 | HHAT | 1.281 | DISEASES 3109 | HLA-DMB | 1.191 | DISEASES 3481 | IGF2 | 4.519 | DISEASES 79191 | IRX3 | 1.734 | DISEASES 3739 | KCNA4 | 1.358 | DISEASES 84678 | KDM2B | 2.057 | DISEASES 9682 | KDM4A | 1.053 | DISEASES 55605 | KIF21A | 1.566 | DISEASES 3850 | KRT3 | 3.119 | DISEASES 10660 | LBX1 | 1.02 | DISEASES 3939 | LDHA | 2.329 | DISEASES 55366 | LGR4 | 1.934 | DISEASES 338645 | LUZP2 | 3.18 | DISEASES 84557 | MAP1LC3A | 1.208 | DISEASES 10367 | MICU1 | 1.499 | DISEASES 758 | MPPED1 | 4.174 | DISEASES 744 | MPPED2 | 4.569 | DISEASES 4703 | NEB | 1.35 | DISEASES 7101 | NR2E1 | 2.288 | DISEASES 56953 | NT5M | 1.248 | DISEASES 10896 | OCLM | 2.851 | DISEASES 5015 | OTX2 | 2.083 | DISEASES 5075 | PAX1 | 1.74 | DISEASES 5076 | PAX2 | 2.992 | DISEASES 5077 | PAX3 | 2.342 | DISEASES 5078 | PAX4 | 1.999 | DISEASES 5079 | PAX5 | 1.222 | DISEASES 5080 | PAX6 | 8.174 | DISEASES 5083 | PAX9 | 1.473 | DISEASES 3651 | PDX1 | 1.709 | DISEASES 51317 | PHF21A | 3.063 | DISEASES 5309 | PITX3 | 2.614 | DISEASES 5456 | POU3F4 | 1.326 | DISEASES 9588 | PRDX6 | 1.196 | DISEASES 4990 | SIX6 | 2.42 | DISEASES 6656 | SOX1 | 1.348 | DISEASES 6657 | SOX2 | 1.754 | DISEASES 54823 | SWT1 | 2.892 | DISEASES 10716 | TBR1 | 1.833 | DISEASES 6899 | TBX1 | 1.471 | DISEASES 50945 | TBX22 | 1.622 | DISEASES 7020 | TFAP2A | 1.019 | DISEASES 27229 | TUBGCP4 | 1.885 | DISEASES 157680 | VPS13B | 1.152 | DISEASES 7477 | WNT7B | 1.667 | DISEASES 7490 | WT1 | 5.429 | DISEASES 51352 | WT1-AS | 2.239 | DISEASES 10782 | ZNF274 | 2.465 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 228 |
|---|---|
| Disease | aniridia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:35) HP:0000639 | Nystagmus HP:0001263 | Global developmental delay HP:0000078 | Abnormality of the genital system HP:0000588 | Optic nerve coloboma HP:0000518 | Cataract HP:0007988 | Macular hypopigmentation HP:0012745 | Short palpebral fissure HP:0007759 | Cloudy cornea HP:0001104 | Macular hypoplasia HP:0000508 | Ptosis HP:0000563 | Keratoconus HP:0007370 | Aplasia/Hypoplasia of the corpus callosum HP:0001537 | Umbilical hernia HP:0000486 | Strabismus HP:0008053 | Aplasia/Hypoplasia of the iris HP:0200020 | Corneal erosion HP:0007730 | Iris hypopigmentation HP:0000164 | Abnormality of the teeth HP:0000407 | Sensorineural hearing impairment HP:0004408 | Abnormality of the sense of smell HP:0007750 | Hypoplasia of the fovea HP:0000708 | Behavioral abnormality HP:0000526 | Absent iris HP:0000491 | Keratitis HP:0001249 | Intellectual disability HP:0000609 | Optic nerve hypoplasia HP:0000864 | Abnormality of the hypothalamus-pituitary axis HP:0001083 | Ectopia lentis HP:0001097 | Keratoconjunctivitis sicca HP:0000505 | Visual impairment HP:0000613 | Photophobia HP:0011496 | Corneal neovascularization HP:0000501 | Glaucoma HP:0007759 | Opacification of the corneal stroma HP:0000482 | Microcornea |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:18) HP:0000501 | Glaucoma | 6 HP:0000518 | Cataract | 5 HP:0000505 | Poor vision | 3 HP:0000659 | Peters anomaly | 2 HP:0000589 | Ocular coloboma | 2 HP:0000656 | Ectropion | 2 HP:0100719 | Lens coloboma | 2 HP:0000639 | Nystagmus | 2 HP:0000545 | Near sightedness | 1 HP:0007957 | Corneal clouding | 1 HP:0000833 | Glucose intolerance | 1 HP:0000618 | Blindness | 1 HP:0001022 | Achromasia | 1 HP:0000666 | Horizontal nystagmus | 1 HP:0000482 | Microcornea | 1 HP:0000508 | Drooping upper eyelid | 1 HP:0001513 | Obesity | 1 HP:0011003 | High myopia | 1 |
| Disease ID | 228 |
|---|---|
| Disease | aniridia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:22) C2697327 | wilms tumor C1963154 | renal failure C1962986 | glaucoma C1962983 | cataract C1561989 | limbal stem cell deficiency C1281304 | pupillary membrane C0595921 | intraocular pressure C0456909 | vision loss C0456909 | blindness C0339682 | corneal astigmatism C0235270 | keratopathy C0206661 | gonadoblastoma C0206115 | wagr syndrome C0149893 | secondary glaucoma C0085636 | photophobia C0035321 | retinal tears C0033377 | ptosis C0027708 | wilms' tumour C0027708 | wilms' tumor C0027708 | wilms tumour C0027708 | nephroblastoma C0022568 | keratitis |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:7) C0017601 | glaucoma | 6 C0086543 | cataract | 4 C0235270 | keratopathy | 3 C1561989 | limbal stem cell deficiency | 1 C0005745 | ptosis | 1 C0456909 | blindness | 1 C0149893 | secondary glaucoma | 1 |
Manually Genotype(Total Manually Genotypes:8) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| PAX6 | Mosaic del exon 8–12 | doi:10.1038/gim.2011.65 | Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders |
| PAX6 | Het del exon 6–7 | doi:10.1038/gim.2011.65 | Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders |
| PAX6 | Het del exon 1–7 | doi:10.1038/gim.2011.65 | Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders |
| PAX6 and ELP4 | Het del ELP4 exon 10–PAX6 exon 7–13 | doi:10.1038/gim.2011.65 | Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders |
| PAX6 and ELP4 | Het del ELP4 exon 10–PAX6 exon 13 | doi:10.1038/gim.2011.65 | Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders |
| PAX6 and ELP4 | Het del ELP4 exon 5–10, PAX6 whole gene | doi:10.1038/gim.2011.65 | Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders |
| PAX6 and ELP4 | Het del PAX6 exon 8–13 and ELP4 exon 10 | doi:10.1038/gim.2011.65 | Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders |
| PAX6 | - | doi:10.1038/gim.2015.51 | Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:19) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121907912 | NA | 5080 | PAX6 | umls:C0003076 | CLINVAR | NA | 0.606164981 | NA | PAX6 | 11 | 31800808 | G | A |
| rs121907913 | NA | 5080 | PAX6 | umls:C0003076 | CLINVAR | NA | 0.606164981 | NA | PAX6 | 11 | 31802769 | G | C |
| rs121907914 | NA | 5080 | PAX6 | umls:C0003076 | CLINVAR | NA | 0.606164981 | NA | PAX6 | 11 | 31801611 | G | A |
| rs121907916 | NA | 5080 | PAX6 | umls:C0003076 | CLINVAR | NA | 0.606164981 | NA | PAX6 | 11 | 31794705 | G | A |
| rs121907917 | 20057906 | 5080 | PAX6 | umls:C0003076 | BeFree | The internal control was from a girl with typical aniridia and an identified c.718C>T (p.R240X) mutation in PAX6, suggesting the c.608G>A variation in SIX6 was unlikely to play a role in her ocular phenotype. | 0.606164981 | 2009 | PAX6 | 11 | 31794079 | G | A |
| rs121907917 | 19034419 | 5080 | PAX6 | umls:C0003076 | BeFree | Paired box 6 (PAX6) deficiency, both in aniridia patients with a heterozygous PAX6 R240Stop mutation and in mice with a heterozygous Pax6 R266Stop mutation, causes defective proinsulin processing and abnormal glucose metabolism. | 0.606164981 | 2009 | PAX6 | 11 | 31794079 | G | A |
| rs121907917 | NA | 5080 | PAX6 | umls:C0003076 | CLINVAR | NA | 0.606164981 | NA | PAX6 | 11 | 31794079 | G | A |
| rs121907922 | NA | 5080 | PAX6 | umls:C0003076 | CLINVAR | NA | 0.606164981 | NA | PAX6 | 11 | 31789935 | T | A |
| rs121907927 | NA | 5080 | PAX6 | umls:C0003076 | CLINVAR | NA | 0.606164981 | NA | PAX6 | 11 | 31794072 | C | G |
| rs121907928 | NA | 5080 | PAX6 | umls:C0003076 | CLINVAR | NA | 0.606164981 | NA | PAX6 | 11 | 31801561 | G | T |
| rs200015827 | 11309364 | 5080 | PAX6 | umls:C0003076 | UNIPROT | Mutations in the PAX6 gene produce various phenotypes, including aniridia, Peters' anomaly, foveal hypoplasia, autosomal dominant keratitis and congenital cataracts. | 0.606164981 | 2001 | PAX6 | 11 | 31790769 | G | T |
| rs387906911 | 22226084 | 10058 | ABCB6 | umls:C0003076 | BeFree | Sequence analysis was performed on the ABCB6 exons from 116 sporadic cases of microphthalmia with coloboma (MAC), isolated coloboma, and aniridia, and an additional mutation (A57T) was identified in three patients with MAC. | 0.000271442 | 2012 | ABCB6 | 2 | 219218505 | C | T |
| rs397514640 | NA | 5080 | PAX6 | umls:C0003076 | CLINVAR | NA | 0.606164981 | NA | PAX6 | 11 | 31802733 | G | A |
| rs398123295 | NA | 5080 | PAX6 | umls:C0003076 | CLINVAR | NA | 0.606164981 | NA | PAX6 | 11 | 31801560 | C | T |
| rs398123296 | NA | 5080 | PAX6 | umls:C0003076 | CLINVAR | NA | 0.606164981 | NA | PAX6 | 11 | 31802799 | C | - |
| rs606231388 | NA | 26610 | ELP4 | umls:C0003076 | CLINVAR | NA | 0.120271442 | NA | ELP4 | 11 | 31664397 | C | A |
| rs794726661 | NA | 5080 | PAX6 | umls:C0003076 | CLINVAR | NA | 0.606164981 | NA | PAX6 | 11 | 31790862 | T | C |
| rs797044627 | NA | 5080 | PAX6 | umls:C0003076 | CLINVAR | NA | 0.606164981 | NA | PAX6 | 11 | 31793673 | - | TGGTTGGTAGACACTG |
| rs797044642 | NA | 5080 | PAX6 | umls:C0003076 | CLINVAR | NA | 0.606164981 | NA | PAX6 | 11 | 31789960 | - | CATAT |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:15) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008053 | Aplasia/Hypoplasia of the iris | 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:0000864 | Abnormality of the hypothalamus-pituitary axis | MP:0004686 | decreased length of long bones | reduced end-to-end length of the several elongated bones of the extremities |
| HP:0007759 | Opacification of the corneal stroma | MP:0012129 | failure of blastocyst formation | inability to form a blastocyst from a solid ball of cells known as a morula |
| HP:0007750 | Hypoplasia of the fovea | MP:0012528 | abnormal zone of polarizing activity morphology | any structural anomaly of the subset of cells found in the posterior mesenchyme region of the vertebrate limb bud; Sonic hedgehog (Shh) produced by ZPA represents the key mediator of the polarizing activity that regulates patterning of the limb along the |
| HP:0000078 | Abnormality of the genital system | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0000407 | Sensorineural hearing impairment | MP:0006330 | syndromic hearing impairment | hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms |
| HP:0000609 | Optic nerve hypoplasia | MP:0012090 | midbrain hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the brain region derived from the middle of the three cerebral vesicles of the embryo; this region controls sensory and motor functions in the adult, including eye movement and |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0001083 | Ectopia lentis | MP:0005263 | ectopia lentis | congenital displacement of the lens due to defective zonule formation |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 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:0000164 | Abnormality of the teeth | MP:0010382 | abnormal dosage compensation, by inactivation of X chromosome | anomaly in the process of compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex |
| HP:0001537 | Umbilical hernia | MP:0010146 | umbilical hernia | an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close |
| HP:0007730 | Iris hypopigmentation | MP:0005408 | hypopigmentation | dilution of pigment in any or all tissues or a part of a tissue |
| HP:0000588 | Optic nerve coloboma | MP:0012533 | uveal coloboma | congenital defect of the uvea in which some part of the structure is absent |
| HP:0004408 | Abnormality of the sense of smell | 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 |
Mapped by homologous gene(Total Items:33) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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:0000164 | Abnormality of the teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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: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:0007730 | Iris hypopigmentation | 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:0007759 | Opacification of the corneal stroma | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0007750 | Hypoplasia of the fovea | 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:0000501 | Glaucoma | 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:0000864 | Abnormality of the hypothalamus-pituitary axis | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0000407 | Sensorineural hearing impairment | 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:0001097 | Keratoconjunctivitis sicca | MP:0013378 | increased sebocyte number | greater than expected number of the highly specialized, sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation |
| HP:0000482 | Microcornea | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008053 | Aplasia/Hypoplasia of the iris | 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: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:0007370 | Aplasia/Hypoplasia of the corpus callosum | 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:0200020 | Corneal erosion | MP:0020087 | increased susceptibility to non-insulin-dependent diabetes | increased likelihood to develop non-insulin-dependent diabetes |
| HP:0004408 | Abnormality of the sense of smell | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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: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:0000078 | Abnormality of the genital system | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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: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:0011496 | Corneal neovascularization | MP:0008658 | decreased interleukin-1 beta secretion | reduction in the production or release of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the |
| HP:0001104 | Macular hypoplasia | MP:0013279 | increased fasted circulating glucose level | increase in the amount of glucose in the blood at some defined time point after eating compared to controls |
| HP:0001537 | Umbilical hernia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000526 | Aniridia | 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:0000613 | Photophobia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0012745 | Short palpebral fissure | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000609 | Optic nerve hypoplasia | 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:0000588 | Optic nerve coloboma | MP:0013791 | absent external nares | absence or failure to form both of the anterior openings to the nasal cavity |
| HP:0000505 | Visual impairment | 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:0000491 | Keratitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001083 | Ectopia lentis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 228 |
|---|---|
| Disease | aniridia |
| Case | (Waiting for update.) |