eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| acheiropodia | ||||
| Disease ID | 1278 |
|---|---|
| Disease | acheiropodia |
| Definition | Acheiropodia (ACHP), also known as Horn-Kolb Syndrome, Acheiropody and Aleijadinhos (Brazilian type), is an autosomal recessive[1] disorder that results in hemimelia, a lack of formation of the distal extremities. - Wikipedia Reference: https://en.wikipedia.org/wiki/acheiropodia |
| Synonym | acheiropodia (disorder) acheiropodia (disorder) [ambiguous] acheiropody acheiropody, brazilian type achp agenesis of hands and feet brazilian type acheiropody |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0265559 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:1) |
| Locus | Symbol | Locus(Total Locus:1) LMBR1 | 7q36.3 |
| Disease ID | 1278 |
|---|---|
| Disease | acheiropodia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:8) HP:0004050 | Absent hand HP:0002990 | Fibular aplasia HP:0009813 | Upper limb phocomelia HP:0003974 | Absent radius HP:0005792 | Short humerus HP:0003982 | Absent ulna HP:0005930 | Abnormality of epiphysis morphology HP:0000944 | Abnormality of the metaphyses |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1278 |
|---|---|
| Disease | acheiropodia |
| 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) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
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:0005930 | Abnormality of epiphysis morphology | 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:0003982 | Absent ulna | MP:0004360 | absent ulna | missing the medial and larger of the two bones of the 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:0003974 | Absent radius | MP:0008951 | long radius | increased length of the short bone of the lateral forearm |
| HP:0009813 | Upper limb phocomelia | MP:0002109 | abnormal limb morphology | any structural anomaly of the projecting paired appendages of an animal trunk, used in particular for movement and grasping; usually denotes the arm and/or legs in mammalian species |
| HP:0005792 | Short humerus | MP:0008160 | increased diameter of humerus | increased width of the cross-sectional distance that extends from one lateral edge of the humerus, through its center and to the opposite lateral edge |
Mapped by homologous gene(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0005930 | Abnormality of epiphysis morphology | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0009813 | Upper limb phocomelia | MP:0011527 | disorganized placental labyrinth | derangement of the placental layers where embryonic blood vessels are surrounded by trophoblast cells and maternal blood |
| HP:0003974 | Absent radius | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0004050 | Absent hand | MP:0013241 | embryo tissue necrosis | morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage |
| HP:0005792 | Short humerus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003982 | Absent ulna | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| HP:0002990 | Fibular aplasia | 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 | 1278 |
|---|---|
| Disease | acheiropodia |
| Case | (Waiting for update.) |