eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hyperostosis corticalis generalisata | ||||
| Disease ID | 741 |
|---|---|
| Disease | hyperostosis corticalis generalisata |
| Synonym | endosteal hyperostosis endosteal hyperostosis, autosomal recessive hyperphosphatasaemia tarda hyperphosphatasemia tarda hyperphosphatasemia tarda (disorder) hyperphosphatasia tarda leontiasis ossea generalisata sost sclerosing bone dysplasia sost-related sclerosing bone dysplasia van buchem disease van buchem's syndrome vbch |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0432272 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:12) 632 | BGLAP | 1.337 | DISEASES 1499 | CTNNB1 | 2.432 | DISEASES 22943 | DKK1 | 2.404 | DISEASES 3840 | KPNA4 | 3.326 | DISEASES 83999 | KREMEN1 | 3.642 | DISEASES 3949 | LDLR | 2.019 | DISEASES 4017 | LOXL2 | 2.253 | DISEASES 4205 | MEF2A | 3.522 | DISEASES 4208 | MEF2C | 2.159 | DISEASES 4222 | MEOX1 | 3.822 | DISEASES 5251 | PHEX | 1.197 | DISEASES 5745 | PTH1R | 1.837 | DISEASES |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 741 |
|---|---|
| Disease | hyperostosis corticalis generalisata |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:8) HP:0000889 | Abnormality of the clavicle HP:0005789 | Generalized osteosclerosis HP:0000303 | Mandibular prognathia HP:0004437 | Cranial hyperostosis HP:0003103 | Abnormal cortical bone morphology HP:0005019 | Diaphyseal thickening HP:0010628 | Facial palsy HP:0000407 | Sensorineural hearing impairment |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 741 |
|---|---|
| Disease | hyperostosis corticalis generalisata |
| 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:0000889 | Abnormality of the clavicle | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0003103 | Abnormal cortical bone morphology | MP:0013640 | increased bone stiffness | increase in material stiffness (N/mm) during elastic deformation |
| 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 |
Mapped by homologous gene(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0004437 | Cranial hyperostosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0000889 | Abnormality of the clavicle | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005019 | Diaphyseal thickening | MP:0013178 | tail necrosis | morphological changes resulting from pathological death of tail tissue; usually due to irreversible damage |
| HP:0010628 | Facial palsy | MP:0020240 | increased skeletal muscle cell apoptosis | increase in the number of skeletal muscle cells undergoing programmed cell death |
| HP:0000303 | Mandibular prognathia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0003103 | Abnormal cortical bone morphology | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005789 | Generalized osteosclerosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 741 |
|---|---|
| Disease | hyperostosis corticalis generalisata |
| Case | (Waiting for update.) |