eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| schneckenbecken dysplasia | ||||
| Disease ID | 693 |
|---|---|
| Disease | schneckenbecken dysplasia |
| Synonym | chondrodysplasia, lethal neonatal, with snail-like pelvis schneckenbecken dysplasia (disorder) |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0432194 |
| 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:2) |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 693 |
|---|---|
| Disease | schneckenbecken dysplasia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:26) HP:0008873 | Disproportionate short-limb short stature HP:0000028 | Cryptorchidism HP:0000470 | Short neck HP:0000946 | Hypoplastic ilia HP:0005019 | Diaphyseal thickening HP:0000882 | Hypoplastic scapulae HP:0008108 | Advanced tarsal ossification HP:0001004 | Lymphedema HP:0008479 | Hypoplastic vertebral bodies HP:0000773 | Short ribs HP:0012107 | Increased fibular diameter HP:0000774 | Narrow chest HP:0000175 | Cleft palate HP:0003312 | Abnormal form of the vertebral bodies HP:0000256 | Macrocephaly HP:0000272 | Malar flattening HP:0000268 | Dolichocephaly HP:0005616 | Accelerated skeletal maturation HP:0001800 | Hypoplastic toenails HP:0000895 | Lateral clavicle hook HP:0000947 | Dumbbell-shaped long bone HP:0003038 | Fibular hypoplasia HP:0001231 | Abnormality of the fingernails HP:0000944 | Abnormality of the metaphyses HP:0002983 | Micromelia HP:0001561 | Polyhydramnios |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 693 |
|---|---|
| Disease | schneckenbecken dysplasia |
| 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:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs137853111 | NA | 23169 | SLC35D1 | umls:C0432194 | CLINVAR | NA | 0.440542884 | NA | SLC35D1 | 1 | 67009112 | C | T |
| rs267607062 | NA | 23169 | SLC35D1 | umls:C0432194 | CLINVAR | NA | 0.440542884 | NA | SLC35D1 | 1 | 67053821 | T | G |
| rs267607063 | NA | 23169 | SLC35D1 | umls:C0432194 | CLINVAR | NA | 0.440542884 | NA | SLC35D1 | 1 | 67052776 | G | 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:12) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000175 | Cleft palate | MP:0013550 | abnormal secondary palate morphology | |
| HP:0003038 | Fibular hypoplasia | MP:0010881 | esophagus hypoplasia | underdevelopment or decreased size of the esophagus, usually due a reduced number of cells |
| HP:0000947 | Dumbbell-shaped long bone | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000470 | Short neck | MP:0012720 | elongated neck | increased length of the neck |
| HP:0005616 | Accelerated skeletal maturation | MP:0003378 | early sexual maturation | pubertal changes occur at an earlier than normal age |
| 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: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:0000774 | Narrow chest | MP:0004134 | abnormal chest morphology | any structural anomaly of the part of the body between the neck and the abdomen |
| HP:0000773 | Short ribs | MP:0004672 | short ribs | reduced length of the bones forming the bony wall of the chest |
| 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:0008873 | Disproportionate short-limb short stature | MP:0004672 | short ribs | reduced length of the bones forming the bony wall of the chest |
| HP:0008108 | Advanced tarsal ossification | MP:0008272 | abnormal endochondral bone ossification | anomaly in the process of the formation of bone by the replacement of cartilage tissue with mineralized bone |
Mapped by homologous gene(Total Items:25) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000268 | Dolichocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0008479 | Hypoplastic vertebral bodies | MP:0013178 | tail necrosis | morphological changes resulting from pathological death of tail tissue; usually due to irreversible damage |
| HP:0000774 | Narrow chest | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0005616 | Accelerated skeletal maturation | 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:0008873 | Disproportionate short-limb short stature | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000882 | Hypoplastic scapulae | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001004 | Lymphedema | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0000895 | Lateral clavicle hook | MP:0013886 | increased CD4-negative, CD25-positive NK T cell number | increase in the number of CD4-negative NK T cells expressing the activation marker CD25 |
| 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:0000028 | Cryptorchidism | 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:0008108 | Advanced tarsal ossification | MP:0013774 | decreased KLRG1-positive T-helper cell number | reduction in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation |
| HP:0001800 | Hypoplastic toenails | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001561 | Polyhydramnios | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0000470 | Short neck | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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: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:0000272 | Malar flattening | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000947 | Dumbbell-shaped long bone | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000946 | Hypoplastic ilia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005019 | Diaphyseal thickening | MP:0013178 | tail necrosis | morphological changes resulting from pathological death of tail tissue; usually due to irreversible damage |
| HP:0000773 | Short ribs | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000256 | Macrocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0003038 | Fibular hypoplasia | 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 | 693 |
|---|---|
| Disease | schneckenbecken dysplasia |
| Case | (Waiting for update.) |