eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| frontal encephalocele | ||||
| Disease ID | 1794 |
|---|---|
| Disease | frontal encephalocele |
| Synonym | enceph frontal encephalocele, frontal encephaloceles, frontal frontal enceph frontal encephalocele (disorder) frontal encephaloceles |
| Orphanet | |
| ICD10 | |
| UMLS | C0431289 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0010278 | craniosynostosis | 1 C0242343 | panhypopituitarism | 1 C0026654 | moyamoya disease | 1 C0026654 | moyamoya | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1794 |
|---|---|
| Disease | frontal encephalocele |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:11) HP:0001250 | Seizures HP:0007370 | Aplasia/Hypoplasia of the corpus callosum HP:0000256 | Macrocephaly HP:0000268 | Dolichocephaly HP:0001362 | Skull defect HP:0000316 | Hypertelorism HP:0002084 | Encephalocele HP:0002514 | Cerebral calcification HP:0002415 | Leukodystrophy HP:0000238 | Hydrocephalus HP:0002414 | Spina bifida |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) HP:0001257 | Spasticity | 1 HP:0002084 | Bifid skull | 1 HP:0000871 | Panhypopituitarism | 1 HP:0002475 | Myelomeningocele | 1 HP:0001363 | Early fusion of cranial sutures | 1 HP:0002308 | Chiari malformation | 1 |
| Disease ID | 1794 |
|---|---|
| Disease | frontal encephalocele |
| 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:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001362 | Skull defect | MP:0010418 | perimembraneous ventricular septal defect | abnormal communications between the two lower chambers of the heart, occurring in the membranous septum with defects in the adjacent muscular portion of the septum; it is generally located in the LV outflow tract just below the aortic valve, associated wi |
| 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:0002414 | Spina bifida | MP:0003054 | spina bifida | common congenital midline defect of fusion of the vertebral arch |
Mapped by homologous gene(Total Items:11) | ||||
|---|---|---|---|---|
| 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:0002415 | Leukodystrophy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000268 | Dolichocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001362 | Skull defect | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0001250 | Seizures | 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:0000256 | Macrocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002084 | Encephalocele | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002414 | Spina bifida | MP:0013901 | absent female preputial gland | absence of the paired, lobulated, modified sebaceous glands located on the side of the clitoris in female rodents; in contrast to the preputial glands in male rodents, clitoral glands are a minor source of olfactory stimuli contributing to sexual attracti |
| HP:0000238 | Hydrocephalus | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0002514 | Cerebral calcification | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| Disease ID | 1794 |
|---|---|
| Disease | frontal encephalocele |
| Case | (Waiting for update.) |