eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| brachydactyly type c | ||||
| Disease ID | 1849 |
|---|---|
| Disease | brachydactyly type c |
| Synonym | brachydactyly haws type brachydactyly, haws type brachydactyly, type c type c brachydactyly |
| Orphanet | |
| OMIM | |
| UMLS | C1862103 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 1849 |
|---|---|
| Disease | brachydactyly type c |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:14) HP:0010743 | Short metatarsal HP:0004322 | Short stature HP:0009684 | Stippling of the epiphysis of the distal phalanx of the thumb HP:0009773 | Symphalangism affecting the phalanges of the hand HP:0010508 | Metatarsus valgus HP:0005819 | Short middle phalanx of finger HP:0009606 | Complete duplication of distal phalanx of the thumb HP:0009465 | Ulnar deviation of finger HP:0010579 | Cone-shaped epiphysis HP:0009373 | Type C brachydactyly HP:0004209 | Clinodactyly of the 5th finger HP:0001231 | Abnormality of the fingernails HP:0009495 | Pseudoepiphyses of the 2nd finger HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1849 |
|---|---|
| Disease | brachydactyly type c |
| 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:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121434419 | 16957682 | 658 | BMPR1B | umls:C1862103 | BeFree | A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2. | 0.120271442 | 2006 | BMPR1B | 4 | 95154621 | G | A |
| rs140047318 | 16957682 | 658 | BMPR1B | umls:C1862103 | BeFree | A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2. | 0.120271442 | 2006 | BMPR1B | 4 | 95152757 | G | A,T |
| rs28936397 | NA | 8200 | GDF5 | umls:C1862103 | CLINVAR | NA | 0.562442977 | NA | GDF5 | 20 | 35437412 | T | G,C |
| rs28936397 | 14735582 | 8200 | GDF5 | umls:C1862103 | UNIPROT | Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1. | 0.562442977 | 2004 | GDF5 | 20 | 35437412 | T | G,C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0005819 | Short middle phalanx of finger | 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:0009606 | Complete duplication of distal phalanx of the thumb | MP:0012528 | abnormal zone of polarizing activity morphology | any structural anomaly of the subset of cells found in the posterior mesenchyme region of the vertebrate limb bud; Sonic hedgehog (Shh) produced by ZPA represents the key mediator of the polarizing activity that regulates patterning of the limb along the |
| 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:0010743 | Short metatarsal | MP:0004635 | short metatarsal bones | reduced length of the five bones of the hindpaws that articulate proximally with the cuneiform and cuboid bones of the tarsus and distally with the phalanges |
| HP:0009465 | Ulnar deviation of finger | MP:0010178 | increased number of Howell-Jolly bodies | abnormal presence of basophilic nuclear remnants of condensed DNA (1 to 2 um in diameter) in circulating erythrocytes, typically seen in severe hemolytic anemias or after splenectomy; these inclusions are normally removed by the spleen but will persist in |
| HP:0001231 | Abnormality of the fingernails | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0009773 | Symphalangism affecting the phalanges of the hand | MP:0010728 | fusion of atlas and occipital bones | union of elements of the atlas and the bone at the lower, posterior part of the skull into one structure |
| HP:0009495 | Pseudoepiphyses of the 2nd finger | MP:0004686 | decreased length of long bones | reduced end-to-end length of the several elongated bones of the extremities |
Mapped by homologous gene(Total Items:10) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0009495 | Pseudoepiphyses of the 2nd finger | MP:0013400 | abnormal endometrial gland development | aberrant formation or incomplete differentiation of the simple or branched tubular glands found in the mucus membrane of the uterus |
| HP:0010743 | Short metatarsal | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0009465 | Ulnar deviation of finger | 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:0010579 | Cone-shaped epiphysis | 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:0001231 | Abnormality of the fingernails | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0005819 | Short middle phalanx of finger | 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:0004322 | Short stature | 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:0009773 | Symphalangism affecting the phalanges of the hand | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0009606 | Complete duplication of distal phalanx of the thumb | MP:0013545 | cleft hard palate | cleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones |
| Disease ID | 1849 |
|---|---|
| Disease | brachydactyly type c |
| Case | (Waiting for update.) |