autosomal recessive hypohidrotic ectodermal dysplasia |
Disease ID | 1391 |
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Disease | autosomal recessive hypohidrotic ectodermal dysplasia |
Definition | An autosomal recessive form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR or EDAR-ASSOCIATED DEATH DOMAIN PROTEIN. |
Synonym | anhidridic ectodermal dysplasia, autosomal recessive anhidrotic ectodermal dysplasia, autosomal recessive anhydridic ectodermal dysplasia, autosomal recessive autosomal recessive anhidrotic ectodermal dysplasia autosomal recessive anhydrotic ectodermal dysplasia autosomal recessive hypohidrotic ectodermal dysplasia syndrome autosomal recessive hypohidrotic ectodermal dysplasia syndrome (disorder) ectodermal dysplasia, anhidrotic, autosomal recessive ectodermal dysplasia, hypohidrotic, autosomal recessive ectodermal dysplasia, hypohidrotic, autosomal recessive [disease/finding] ectodermal dysplasia, hypohydrotic, autosomal recessive hypohidrotic autosomal recessive ectodermal dysplasia |
Orphanet | |
UMLS | C0406702 |
MeSH | |
SNOMED-CT | |
Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
Inferring Gene | (Waiting for update.) |
Text Mined Gene | (Waiting for update.) |
Locus | Symbol | Locus(Total Locus:3) |
Disease ID | 1391 |
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Disease | autosomal recessive hypohidrotic ectodermal dysplasia |
Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:10) HP:0001596 | Alopecia HP:0000958 | Dry skin HP:0000685 | Hypoplasia of teeth HP:0000966 | Hypohidrosis HP:0006482 | Abnormality of dental morphology HP:0002213 | Fine hair HP:0001595 | Abnormality of the hair HP:0001231 | Abnormality of the fingernails HP:0006323 | Premature loss of primary teeth HP:0008388 | Abnormality of the toenails |
Text Mined Phenotype | (Waiting for update.) |
Disease ID | 1391 |
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Disease | autosomal recessive hypohidrotic ectodermal dysplasia |
Manually Symptom | (Waiting for update.) |
Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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(Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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(Waiting for update.) |
All Snps(Total Genotypes:10) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs121908450 | NA | 10913 | EDAR | umls:C0406702 | CLINVAR | NA | 0.362171535 | NA | EDAR | 2 | 108929288 | C | T |
rs121908451 | NA | 10913 | EDAR | umls:C0406702 | CLINVAR | NA | 0.362171535 | NA | EDAR | 2 | 108929295 | A | G |
rs121908454 | NA | 10913 | EDAR | umls:C0406702 | CLINVAR | NA | 0.362171535 | NA | EDAR | 2 | 108897130 | C | T |
rs121908455 | NA | 10913 | EDAR | umls:C0406702 | CLINVAR | NA | 0.362171535 | NA | EDAR | 2 | 108929225 | T | G |
rs397515575 | NA | 128178 | EDARADD | umls:C0406702 | CLINVAR | NA | 0.360271442 | NA | EDARADD | 1 | 236482403 | AACGGT | - |
rs74315309 | NA | 128178 | EDARADD | umls:C0406702 | CLINVAR | NA | 0.360271442 | NA | EDARADD | 1 | 236482455 | G | A |
rs747806672 | NA | 10913 | EDAR | umls:C0406702 | CLINVAR | NA | 0.362171535 | NA | EDAR | 2 | 108897110 | C | T |
rs797044435 | NA | 10913 | EDAR | umls:C0406702 | CLINVAR | NA | 0.362171535 | NA | EDAR | 2 | 108930963 | C | T |
rs797044436 | NA | 10913 | EDAR | umls:C0406702 | CLINVAR | NA | 0.362171535 | NA | EDAR | 2 | 108910784 | TCTT | - |
rs797044437 | NA | 10913 | EDAR | umls:C0406702 | CLINVAR | NA | 0.362171535 | NA | EDAR | 2 | 108910459 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
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(Waiting for update.) |
GWASdb Snp Trait(Total Genotypes:0) | |
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(Waiting for update.) |
Mapped by lexical matching(Total Items:8) | ||||
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HP ID | HP Name | MP ID | MP Name | Annotation |
HP:0006323 | Premature loss of primary teeth | 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:0002213 | Fine hair | MP:0010685 | abnormal hair follicle inner root sheath morphology | any structural anomaly of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer a |
HP:0008388 | Abnormality of the toenails | 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: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:0000685 | Hypoplasia of teeth | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
HP:0006482 | Abnormality of dental morphology | 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:0001595 | Abnormality of the hair | MP:0008261 | arrest of male meiosis | cessation of the progression of the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell |
HP:0000958 | Dry skin | MP:0010678 | abnormal skin adnexa morphology | any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails |
Mapped by homologous gene(Total Items:10) | ||||
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HP ID | HP Name | MP ID | MP Name | Annotation |
HP:0001595 | Abnormality of the hair | MP:0014127 | increased thymoma incidence | greater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseas |
HP:0008388 | Abnormality of the toenails | 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:0000958 | Dry skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
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:0000685 | Hypoplasia of teeth | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
HP:0002213 | Fine hair | MP:0013897 | decreased eyelid cilium number | reduction in the number of the hairs that grow at the edge of the upper or lower eyelid |
HP:0006482 | Abnormality of dental morphology | MP:0014176 | abnormal cilary zonule morphology | any structural anomaly of the circumferential suspensory ligaments that anchor the lens to the ciliary process and are made of bundles of fibrillin microfibrils, an elaborate system of fibers that spans the gap between the lens and the adjacent nonpigment |
HP:0006323 | Premature loss of primary teeth | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
HP:0001596 | Alopecia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
HP:0000966 | Hypohidrosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
Disease ID | 1391 |
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Disease | autosomal recessive hypohidrotic ectodermal dysplasia |
Case | (Waiting for update.) |