eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| weyers acrofacial dysostosis | ||||
| Disease ID | 1905 |
|---|---|
| Disease | weyers acrofacial dysostosis |
| Synonym | acrodental dysostosis of weyers acrofacial dysostosis of weyers curry hall syndrome curry-hall syndrome curry-hall syndrome (disorder) wad weyers acrodental dysostosis |
| Orphanet | |
| OMIM | |
| UMLS | C0457013 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1905 |
|---|---|
| Disease | weyers acrofacial dysostosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:12) HP:0003502 | Mild short stature HP:0001830 | Posterior polydactyly of foot HP:0004209 | Clinodactyly of fifth digit HP:0006315 | Single central upper incisor HP:0004279 | Hypoplastic hands HP:0000395 | Prominent antihelix HP:0002164 | Nail dysplasia HP:0001792 | Hypoplastic nails HP:0001162 | Postaxial polydactyly of fingers HP:0000698 | Peg tooth HP:0001156 | Brachydactyly HP:0000601 | Closely spaced eyes |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1905 |
|---|---|
| Disease | weyers acrofacial dysostosis |
| 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:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908426 | NA | 2121 | EVC | umls:C0457013 | CLINVAR | NA | 0.480542884 | NA | EVC | 4 | 5745321 | T | C |
| rs587776568 | NA | 132884 | EVC2 | umls:C0457013 | CLINVAR | NA | 0.241085767 | NA | EVC2 | 4 | 5562982 | G | - |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001162 | Postaxial hand polydactyly | MP:0009743 | preaxial polydactyly | duplication of all or part of the first ray on one or more of the autopods |
| HP:0003502 | Mild short stature | MP:0004830 | short incisors | reduced length of the set of long teeth that are the most anterior and prominent in the jaw |
| HP:0006315 | Single median maxillary incisor | MP:0009897 | decreased maxillary shelf size | reduced size of the bony projection of the maxilla that normally fuses with palatine shelf to form secondary (hard) palate |
| HP:0004209 | Clinodactyly of the 5th finger | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0001830 | Postaxial foot polydactyly | MP:0009744 | postaxial polydactyly | duplication of all or part of any of the rays except the first ray on one or more of the autopods |
| HP:0000698 | Conical tooth | MP:0002100 | abnormal tooth morphology | atypical size, shape or hard tissue structure of the teeth |
Mapped by homologous gene(Total Items:12) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0004209 | Clinodactyly of the 5th finger | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0003502 | Mild short stature | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000395 | Prominent antihelix | MP:0013026 | decreased Ly6C low monocyte number | decrease in the number of monocytes that express low levels of Ly6C and low MHC class II that represent a subset of patrolling monocytes |
| HP:0000698 | Conical tooth | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0001830 | Postaxial foot polydactyly | 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:0002164 | Nail dysplasia | MP:0014175 | abnormal ciliary epithelium morphology | any structural anomaly of the double layer lining the inner surfaces of the ciliary processes and the pars plana (i.e. the posterior portion of the ciliary body, aka orbicularis ciliari); the outer layer is the pigmented epithelium, which is composed of l |
| HP:0006315 | Single median maxillary incisor | 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:0004279 | Short palm | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000601 | Hypotelorism | 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:0001162 | Postaxial hand polydactyly | MP:0014117 | increased pancreatic beta cell apoptosis | increase in the number of pancreatic beta cells undergoing programmed cell death |
| HP:0001156 | Brachydactyly syndrome | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0001792 | Small nail | MP:0014152 | absent exorbital lacrimal gland | absence of the large extra-orbital lacrimal gland that, in mice, is normally located subcutaneously at the anteroventral base of the ear adjacent to the parotid gland |
| Disease ID | 1905 |
|---|---|
| Disease | weyers acrofacial dysostosis |
| Case | (Waiting for update.) |