PedAM
Pediatric Disease Annotations & Medicines
| optic nerve hypoplasia | ||||
| Disease ID | 1963 |
|---|---|
| Disease | optic nerve hypoplasia |
| Definition | A congenital abnormality characterized by the underdevelopment of the optic nerve. |
| Synonym | hypoplasia of optic nerve hypoplasia of the optic nerve hypoplasia of the optic nerve (disorder) hypoplasia optic nerve hypoplastic optic nerves onh - optic nerve hypoplasia underdeveloped optic nerves |
| UMLS | C0338502 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:7) C0020635 | hypopituitarism | 3 C0028754 | obesity | 1 C0002418 | amblyopia | 1 C0017601 | glaucoma | 1 C0020676 | hypothyroidism | 1 C0034951 | refractive error | 1 C0750903 | strabismic amblyopia | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1963 |
|---|---|
| Disease | optic nerve hypoplasia |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:16) HP:0040075 | Hypopituitarism | 3 HP:0002126 | Polymicrogyria | 2 HP:0010821 | Gelastic seizures | 1 HP:0000708 | Behavioral problems | 1 HP:0011787 | Central hypothyroidism | 1 HP:0011141 | Age-related cataract | 1 HP:0000568 | Abnormally small globe of eye | 1 HP:0000505 | Poor vision | 1 HP:0001250 | Seizures | 1 HP:0001631 | Atria septal defect | 1 HP:0000501 | Glaucoma | 1 HP:0100842 | Septo-optic dysplasia | 1 HP:0001331 | Agenesis of the septum pellucidum | 1 HP:0001513 | Obesity | 1 HP:0000646 | Wandering eyes | 1 HP:0000821 | Underactive thyroid | 1 |
| Disease ID | 1963 |
|---|---|
| Disease | optic nerve hypoplasia |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:1) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs111699024 | 20395239 | 220202 | ATOH7 | umls:C0338502 | BeFree | Direct sequencing of ATOH7 in 12 patients with optic nerve hypoplasia, one of the leading causes of blindness in children, revealed two novel non-synonymous mutations (Arg65Gly, Ala47Thr) which were not found in 90 unrelated controls (combined Fisher's exact P=0.0136). | 0.000542884 | 2010 | ATOH7 | 10 | 68231485 | T | C,G |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |