eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| craniorachischisis | ||||
| Disease ID | 1045 |
|---|---|
| Disease | craniorachischisis |
| Definition | A rare and severe form of neural tube defect in which there are open cranial and open spinal defects at birth. |
| Synonym | cranial rachischisis craniorachischises craniorachischisis (disorder) craniorachischisis (fissure skull/vertebral column) |
| Orphanet | |
| ICD10 | |
| UMLS | C0152426 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) DACT1 | 14q23.1 |
| Disease ID | 1045 |
|---|---|
| Disease | craniorachischisis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:9) HP:0010309 | Bifid sternum HP:0002023 | Anal atresia HP:0005857 | Cervical spina bifida HP:0010301 | Spinal dysraphism HP:0010497 | Sirenomelia HP:0001539 | Omphalocele HP:0002475 | Myelomeningocele HP:0002323 | Anencephaly HP:0000776 | Congenital diaphragmatic hernia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) HP:0002435 | Meningocele | 1 HP:0001543 | Gastroschisis | 1 HP:0010497 | Sirenomelia | 1 HP:0002475 | Myelomeningocele | 1 |
| Disease ID | 1045 |
|---|---|
| Disease | craniorachischisis |
| 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:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002023 | Anal atresia | MP:0006130 | pulmonary valve atresia | congenital closure of the pulmonary valve |
| HP:0000776 | Congenital diaphragmatic hernia | MP:0010146 | umbilical hernia | an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close |
Mapped by homologous gene(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0010309 | Bifid sternum | MP:0011862 | decreased cranium length | having an decreased dorsal-to-ventral distance of the cranium |
| HP:0002475 | Myelomeningocele | MP:0013309 | adrenal gland cyst | presence of fluid-filled usually benign growths in the adrenal gland |
| HP:0000776 | Congenital diaphragmatic hernia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0010497 | Sirenomelia | MP:0012676 | dilated brain ventricles | the luminal space of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord is increased in volume or area, usually with an increase in contained fluid |
| HP:0002323 | Anencephaly | MP:0013349 | small Rathke's pouch | reduced size of the pouch of ectoderm which grows out from the upper surface of the embryonic stomodeum and gives rise to the anterior and intermediate lobes of the pituitary gland |
| HP:0002023 | Anal atresia | 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:0001539 | Omphalocele | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0010301 | Spinal dysraphism | MP:0013241 | embryo tissue necrosis | morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage |
| Disease ID | 1045 |
|---|---|
| Disease | craniorachischisis |
| Case | (Waiting for update.) |