eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hajdu cheney syndrome | ||||
| Disease ID | 1339 |
|---|---|
| Disease | hajdu cheney syndrome |
| Definition | Rare, autosomal dominant syndrome characterized by ACRO-OSTEOLYSIS, generalized OSTEOPOROSIS, and skull deformations. |
| Synonym | acroosteolysis with osteoporosis and changes in skull and mandible arthro-dento-osteo dysplasia arthrodentoosteodysplasia arthrodentoosteodysplasias cheney hajdu syndrome cheney syndrome hajdu-cheney syndrome hajdu-cheney syndrome (disorder) hajdu-cheney syndrome [disease/finding] hjcys multicentric osteolyses multicentric osteolysis osteolyses, multicentric osteolysis, multicentric |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0917715 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:7) C0029456 | osteoporosis | 2 C0022408 | arthropathy | 2 C0029443 | osteomyelitis | 2 C0003864 | arthritis | 2 C0022658 | nephropathy | 1 C0018818 | ventricular septal defect | 1 C0002766 | analgesia | 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:10) 2316 | FLNA | 1.522 | DISEASES 2317 | FLNB | 2.637 | DISEASES 2318 | FLNC | 1.559 | DISEASES 2737 | GLI3 | 1.748 | DISEASES 84667 | HES7 | 3.611 | DISEASES 284359 | IZUMO1 | 3.178 | DISEASES 4855 | NOTCH4 | 2.949 | DISEASES 3516 | RBPJ | 2.16 | DISEASES 860 | RUNX2 | 1.228 | DISEASES 54790 | TET2 | 1.007 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1339 |
|---|---|
| Disease | hajdu cheney syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:8) HP:0001369 | Arthritis | 2 HP:0003040 | Arthropathy | 2 HP:0002754 | Bone infection | 2 HP:0000939 | Osteoporosis | 2 HP:0000112 | Nephropathy | 2 HP:0001629 | Ventricular septal defects | 1 HP:0100775 | Dural ectasia | 1 HP:0002797 | Increased bone resorption | 1 |
| Disease ID | 1339 |
|---|---|
| Disease | hajdu cheney syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| MMACHC | chr1: g.45974495C>T, homozygous;NM_015506.2, NP_056321.2;c.457C>T, p.(Arg153*) | doi:10.1038/gim.2016.1 | A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs387906746 | NA | 4853 | NOTCH2 | umls:C0917715 | CLINVAR | NA | 0.362985861 | NA | NOTCH2 | 1 | 119916100 | G | A |
| rs387906747 | NA | 4853 | NOTCH2 | umls:C0917715 | CLINVAR | NA | 0.362985861 | NA | NOTCH2 | 1 | 119915773 | G | A |
| rs387906748 | NA | 4853 | NOTCH2 | umls:C0917715 | CLINVAR | NA | 0.362985861 | NA | NOTCH2 | 1 | 119915827 | C | A |
| rs387906749 | NA | 4853 | NOTCH2 | umls:C0917715 | CLINVAR | NA | 0.362985861 | NA | NOTCH2 | 1 | 119915557 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1339 |
|---|---|
| Disease | hajdu cheney syndrome |
| Case | (Waiting for update.) |