eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| deafness-infertility syndrome | ||||
| Disease ID | 1686 |
|---|---|
| Disease | deafness-infertility syndrome |
| Definition | Sensorineural deafness and male infertility caused by a deletion of genetic material on the long (q) arm of chromosome 15. |
| Synonym | chromosome 15q15.3 deletion syndrome deafness infertility syndrome deafness, sensorineural, and male infertility sensorineural deafness and male infertility sensorineural deafness and male infertility (disorder) |
| Orphanet | |
| OMIM | |
| UMLS | C1970187 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 1686 |
|---|---|
| Disease | deafness-infertility syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:6) HP:0012207 | Reduced sperm motility HP:0008619 | Bilateral sensorineural hearing impairment HP:0000027 | Azoospermia HP:0008669 | Abnormal spermatogenesis HP:0003251 | Male infertility HP:0000407 | Sensorineural hearing impairment |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1686 |
|---|---|
| Disease | deafness-infertility 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:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0012207 | Reduced sperm motility | MP:0009237 | kinked sperm flagellum | a sharp bend or zigzag in the sperm tail |
| HP:0008619 | Bilateral sensorineural hearing impairment | MP:0006325 | impaired hearing | reduced ability to perceive auditory stimuli |
| HP:0008669 | Abnormal spermatogenesis | MP:0001156 | abnormal spermatogenesis | incomplete maturation or aberrant formation of the male gametes |
| 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:0003251 | Male infertility | MP:0001924 | infertility | inability to produce live offspring |
Mapped by homologous gene(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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:0003251 | Male infertility | MP:0014233 | bile duct epithelium hyperplasia | |
| HP:0000027 | Azoospermia | MP:0014233 | bile duct epithelium hyperplasia | |
| 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:0008669 | Abnormal spermatogenesis | 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:0012207 | Reduced sperm motility | 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 |
| Disease ID | 1686 |
|---|---|
| Disease | deafness-infertility syndrome |
| Case | (Waiting for update.) |