eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| ochoa syndrome | ||||
| Disease ID | 1261 |
|---|---|
| Disease | ochoa syndrome |
| Synonym | facial palsy, partial, with urinary abnormalities hydronephrosis with peculiar facial expression hydronephrosis-inverted smile inverted smile and occult neuropathic bladder inverted smile-neurogenic bladder ochoa syndrome (disorder) partial facial palsy with urinary abnormalities ufs ufs1 urofacial ochoa's syndrome urofacial syndrome urofacial syndrome 1 |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0403555 |
| 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 | Entrez_id | Symbol | Score | Resource(Total Genes:7) |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 1261 |
|---|---|
| Disease | ochoa syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:18) HP:0000028 | Cryptorchidism HP:0001999 | Facial dysmorphism HP:0000796 | Urethral obstruction HP:0005346 | Abnormal facial expression HP:0002607 | Bowel incontinence HP:0000805 | Enuresis HP:0000126 | Hydronephrosis HP:0000020 | Urinary incontinence HP:0000072 | Megaureter HP:0010481 | Urethral valve HP:0002019 | Dyschezia HP:0000822 | Hypertension HP:0002019 | Constipation HP:0001959 | Polydipsia HP:0000010 | Recurrent urinary tract infections HP:0000076 | Vesicoureteral reflux HP:0000010 | Frequent urinary tract infections HP:0000083 | Renal insufficiency |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1261 |
|---|---|
| Disease | ochoa 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:5) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs267606864 | NA | 60495 | HPSE2 | umls:C0403555 | CLINVAR | NA | 0.441900093 | NA | HPSE2 | 10 | 98490103 | G | C,A |
| rs267606865 | NA | 60495 | HPSE2 | umls:C0403555 | CLINVAR | NA | 0.441900093 | NA | HPSE2 | 10 | 99144391 | G | A |
| rs267606866 | NA | 60495 | HPSE2 | umls:C0403555 | CLINVAR | NA | 0.441900093 | NA | HPSE2 | 10 | 98482733 | G | A |
| rs397515338 | NA | 60495 | HPSE2 | umls:C0403555 | CLINVAR | NA | 0.441900093 | NA | HPSE2 | 10 | 98490051 | TT | - |
| rs397515452 | NA | 60495 | HPSE2 | umls:C0403555 | CLINVAR | NA | 0.441900093 | NA | HPSE2 | 10 | 98459725 | T | A |
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:0000010 | Recurrent urinary tract infections | MP:0014044 | absent cardiac outflow tract | absence of or complete failure to form the common arterial trunk that normally forms the aorta and pulmonary artery and the ventricular outflow regions |
| HP:0000020 | Urinary incontinence | MP:0003280 | urinary incontinence | inability to control the urinary bladder excretory functions leading to involuntary urination |
| HP:0000083 | Renal insufficiency | MP:0003335 | exocrine pancreatic insufficiency | inadequate synthesis and/or secretion of digestive enzymes by the exocrine portion of the pancreas, usually due to loss of acinar tissue from idiopathic atrophy or acute or chronic inflammation, causing maldigestion and malabsorption of nutrients |
| HP:0000076 | Vesicoureteral reflux | MP:0001948 | vesicoureteral reflux | the retrograde flow of urine from the bladder into the ureters and kidneys |
| HP:0001999 | Abnormal facial shape | MP:0008018 | increased facial tumor incidence | greater than the expected number of neoplasms on the face, usually in the form of a distinct mass, in a specific population in a given time period |
Mapped by homologous gene(Total Items:15) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000805 | Enuresis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0005346 | Abnormal facial expression | MP:0011966 | abnormal auditory brainstem response waveform shape | any anomaly in the characteristic pattern of electrical activity recording of a series of vertex positive waves generated by neurons in the ascending auditory system, that can be recorded from scalp electrograms by using computer-averaged responses to sho |
| HP:0000020 | Urinary incontinence | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001959 | Polydipsia | MP:0013572 | abnormal parathyroid gland chief cell morphology | any structural anomaly of an epithelial cell that are collectively arranged in wide, irregular interconnecting columns in the parathyroid gland, that is responsible for the synthesis and secretion of parathyroid hormone (PTH) |
| HP:0000126 | Hydronephrosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000083 | Renal insufficiency | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000028 | Cryptorchidism | 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:0000010 | Recurrent urinary tract infections | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0010481 | Urethral valve | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| HP:0002019 | Constipation | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0000076 | Vesicoureteral reflux | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0001999 | Abnormal facial shape | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000072 | Hydroureter | MP:0014044 | absent cardiac outflow tract | absence of or complete failure to form the common arterial trunk that normally forms the aorta and pulmonary artery and the ventricular outflow regions |
| HP:0000822 | Hypertension | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0002607 | Bowel incontinence | MP:0013438 | dysmyelination | reduced amount of myelin present in the form of a myelin sheath surrounding an axon due to defects in the synthesis and formation of myelin |
| Disease ID | 1261 |
|---|---|
| Disease | ochoa syndrome |
| Case | (Waiting for update.) |