eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| manitoba oculotrichoanal syndrome | ||||
| Disease ID | 1625 |
|---|---|
| Disease | manitoba oculotrichoanal syndrome |
| Synonym | manitoba oculotrichoanal syndrome (disorder) manitoba trichoanal syndrome marles greenberg persaud syndrome marles syndrome marles-greenberg-persaud syndrome marles-greenburg-persaud syndrome mota mota - manitoba oculotrichoanal syndrome |
| Orphanet | |
| OMIM | |
| UMLS | C1855425 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1625 |
|---|---|
| Disease | manitoba oculotrichoanal syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:9) HP:0001545 | Anteriorly placed anus HP:0000579 | Nasolacrimal duct obstruction HP:0000625 | Eyelid coloboma HP:0000528 | Absence of eyeballs HP:0001595 | Hair abnormality HP:0001539 | Omphalocele HP:0000568 | Abnormally small globe of eye HP:0000316 | Increased distance between eye sockets HP:0002025 | Narrowing of anal opening |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1625 |
|---|---|
| Disease | manitoba oculotrichoanal syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs281875281 | NA | 158326 | FREM1 | umls:C1855425 | CLINVAR | NA | 0.560271442 | NA | FREM1;LOC105375979 | 9 | 14792753 | A | C |
| rs281875281 | 21507892 | 158326 | FREM1 | umls:C1855425 | UNIPROT | Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. | 0.560271442 | 2011 | FREM1;LOC105375979 | 9 | 14792753 | A | C |
| rs281875282 | 21507892 | 158326 | FREM1 | umls:C1855425 | UNIPROT | Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. | 0.560271442 | 2011 | FREM1 | 9 | 14740218 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000579 | Nasolacrimal duct obstruction | MP:0009525 | abnormal submandibular duct morphology | any structural anomaly of the duct of the submadibular gland that opens at the sublingual papilla near the frenulum of the tongue |
| HP:0001595 | Abnormality of the hair | MP:0008261 | arrest of male meiosis | cessation of the progression of the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell |
| HP:0001545 | Anteriorly placed anus | MP:0005034 | abnormal anus morphology | any structural anomaly of the lower opening of the digestive tract |
| HP:0000625 | Cleft eyelid | MP:0003153 | early eyelid opening | early average time for the first postnatal eye opening |
Mapped by homologous gene(Total Items:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000316 | Hypertelorism | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000579 | Nasolacrimal duct obstruction | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0002025 | Anal stenosis | 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:0000528 | Anophthalmia | 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:0000625 | Cleft eyelid | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0000568 | Microphthalmia | 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:0001595 | Abnormality of the hair | MP:0014127 | increased thymoma incidence | greater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseas |
| HP:0001539 | Omphalocele | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0001545 | Anteriorly placed anus | MP:0014152 | absent exorbital lacrimal gland | absence of the large extra-orbital lacrimal gland that, in mice, is normally located subcutaneously at the anteroventral base of the ear adjacent to the parotid gland |
| Disease ID | 1625 |
|---|---|
| Disease | manitoba oculotrichoanal syndrome |
| Case | (Waiting for update.) |