eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| metatropic dysplasia | ||||
| Disease ID | 1205 |
|---|---|
| Disease | metatropic dysplasia |
| Synonym | dysplasia metatropic metatrophic dwarf metatrophic dwarfism syndrome metatrophic dysplasia metatrophic dysplasia (disorder) metatropic dwarf metatropic dwarfism metatropic dwarfism syndrome metatropic dysplasia (disorder) metatropic dysplasia group metatropic dysplasia group (disorder) |
| Orphanet | |
| OMIM | |
| UMLS | C0265281 |
| 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 | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) TRPV4 | 12q24.11 |
| Disease ID | 1205 |
|---|---|
| Disease | metatropic dysplasia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:26) HP:0000518 | Cataract HP:0003103 | Abnormal cortical bone morphology HP:0100818 | Long thorax HP:0005280 | Depressed nasal bridge HP:0002826 | Halberd-shaped pelvis HP:0008434 | Hypoplastic cervical vertebrae HP:0002652 | Skeletal dysplasia HP:0000774 | Narrow chest HP:0000772 | Abnormality of the ribs HP:0005108 | Abnormality of the intervertebral disk HP:0000175 | Cleft palate HP:0003312 | Abnormal form of the vertebral bodies HP:0002650 | Scoliosis HP:0002808 | Kyphosis HP:0004209 | Clinodactyly of the 5th finger HP:0006703 | Aplasia/Hypoplasia of the lungs HP:0003510 | Severe short stature HP:0000348 | High forehead HP:0001387 | Joint stiffness HP:0003336 | Abnormal enchondral ossification HP:0100490 | Camptodactyly of finger HP:0000368 | Low-set, posteriorly rotated ears HP:0000238 | Hydrocephalus HP:0100670 | Rough bone trabeculation HP:0000944 | Abnormality of the metaphyses HP:0002983 | Micromelia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1205 |
|---|---|
| Disease | metatropic dysplasia |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| TRPV4 | c.1781G>A, p.R594H | doi:10.1038/gim.2015.129 | Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:9) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121912636 | NA | 59341 | TRPV4 | umls:C0265281 | CLINVAR | NA | 0.482442977 | NA | TRPV4 | 12 | 109798775 | T | C,A |
| rs121912637 | NA | 59341 | TRPV4 | umls:C0265281 | CLINVAR | NA | 0.482442977 | NA | TRPV4 | 12 | 109784378 | G | C,A |
| rs267607147 | NA | 59341 | TRPV4 | umls:C0265281 | CLINVAR | NA | 0.482442977 | NA | TRPV4 | 12 | 109784379 | G | C,A |
| rs267607149 | NA | 59341 | TRPV4 | umls:C0265281 | CLINVAR | NA | 0.482442977 | NA | TRPV4 | 12 | 109784385 | C | T |
| rs387906903 | NA | 59341 | TRPV4 | umls:C0265281 | CLINVAR | NA | 0.482442977 | NA | TRPV4 | 12 | 109803113 | T | C |
| rs387906906 | NA | 59341 | TRPV4 | umls:C0265281 | CLINVAR | NA | 0.482442977 | NA | TRPV4 | 12 | 109786827 | G | A |
| rs387906907 | NA | 59341 | TRPV4 | umls:C0265281 | CLINVAR | NA | 0.482442977 | NA | TRPV4 | 12 | 109800645 | T | C |
| rs397514473 | NA | 59341 | TRPV4 | umls:C0265281 | CLINVAR | NA | 0.482442977 | NA | TRPV4 | 12 | 109814531 | G | A |
| rs397514474 | NA | 59341 | TRPV4 | umls:C0265281 | CLINVAR | NA | 0.482442977 | NA | TRPV4 | 12 | 109814565 | C | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:15) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | 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:0005108 | Abnormality of the intervertebral disk | MP:0009005 | abnormal sesamoid bone of gastrocnemius morphology | any structural anomaly of the small sesamoid bones situated behind the condyles of the femur |
| HP:0000175 | Cleft palate | MP:0013550 | abnormal secondary palate morphology | |
| HP:0008434 | Hypoplastic cervical vertebrae | MP:0004620 | cervical vertebral fusion | the union of one or more cervical vertebrae into a single structure |
| HP:0001387 | Joint stiffness | MP:0003098 | decreased tendon stiffness | reduced ability of tendon to maintain tensile strength and load |
| HP:0003103 | Abnormal cortical bone morphology | MP:0013640 | increased bone stiffness | increase in material stiffness (N/mm) during elastic deformation |
| HP:0100490 | Camptodactyly 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:0000772 | Abnormality of the ribs | 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: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:0003510 | Severe short stature | MP:0004355 | short radius | reduced length of the short bone of the lateral forearm |
| HP:0000944 | Abnormality of the metaphyses | MP:0013621 | decreased internal diameter of femur | reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0000774 | Narrow chest | MP:0004134 | abnormal chest morphology | any structural anomaly of the part of the body between the neck and the abdomen |
| HP:0100670 | Rough bone trabeculation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003312 | Abnormal form of the vertebral bodies | 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:0005280 | Depressed nasal bridge | MP:0013582 | abnormal lateral nasal gland morphology | any structural anomaly of the lateral nasal glands (the largest nasal secretory glands in rodents) which surround the maxillary sinus located in the lateral wall adjacent to each nasal passage and are characterized by cytologic features similar to those d |
Mapped by homologous gene(Total Items:26) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0100818 | Long thorax | 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:0000774 | Narrow chest | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002826 | Halberd-shaped pelvis | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| HP:0003103 | Abnormal cortical bone morphology | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000238 | Hydrocephalus | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0000772 | Abnormality of the ribs | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000518 | Cataract | 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:0006703 | Aplasia/Hypoplasia of the lungs | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005280 | Depressed nasal bridge | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100490 | Camptodactyly of finger | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000348 | High forehead | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000175 | Cleft palate | 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:0002983 | Micromelia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003510 | Severe short stature | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003336 | Abnormal enchondral ossification | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| HP:0002652 | Skeletal dysplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003312 | Abnormal form of the vertebral bodies | 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:0000368 | Low-set, posteriorly rotated ears | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005108 | Abnormality of the intervertebral disk | MP:0012728 | abnormal somite border morphology | any structural anomaly of the anatomical surface separating somites; somite formation requires the physical separation of somitic tissue from the initially continuous presomitic mesoderm (PSM), coalescence of cells in the forming somite, and the establish |
| 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:0001387 | Joint stiffness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008434 | Hypoplastic cervical vertebrae | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002808 | Kyphosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100670 | Rough bone trabeculation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000944 | Abnormality of the metaphyses | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 1205 |
|---|---|
| Disease | metatropic dysplasia |
| Case | (Waiting for update.) |