eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| metaphyseal chondrodysplasia, spahr type | ||||
| Disease ID | 1788 |
|---|---|
| Disease | metaphyseal chondrodysplasia, spahr type |
| Synonym | mdst metaphyseal chondrodysplasia spahr type metaphyseal chondrodysplasia, spahr type (disorder) metaphyseal dysplasia, spahr type spahr type metaphyseal chondrodysplasia |
| Orphanet | |
| OMIM | |
| UMLS | C0432225 |
| SNOMED-CT | |
| 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) MMP13 | 11q22.2 |
| Disease ID | 1788 |
|---|---|
| Disease | metaphyseal chondrodysplasia, spahr type |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:24) HP:0000670 | Carious teeth HP:0006487 | Bowing of the long bones HP:0003498 | Disproportionate short stature HP:0005930 | Abnormality of epiphysis morphology HP:0100255 | Metaphyseal dysplasia HP:0002970 | Genu varum HP:0003307 | Hyperlordosis HP:0000164 | Abnormality of the teeth HP:0005871 | Metaphyseal chondrodysplasia HP:0001270 | Motor retardation HP:0003016 | Wide metaphyses HP:0001288 | Gait disturbance HP:0006385 | Short legs HP:0000234 | Head abnormality HP:0002650 | Scoliosis HP:0002857 | Genu valgum HP:0006385 | Short lower limbs HP:0006409 | Progressive leg bowing HP:0004979 | Metaphyseal sclerosis HP:0002515 | Waddling gait HP:0001385 | Hip dysplasia HP:0002750 | Delayed skeletal maturation HP:0004349 | Reduced bone mineral density HP:0000944 | Abnormality of the metaphyses |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1788 |
|---|---|
| Disease | metaphyseal chondrodysplasia, spahr type |
| 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 |
| rs121909500 | NA | 4322 | MMP13 | umls:C0432225 | CLINVAR | NA | 0.36 | NA | MMP13 | 11 | 102952117 | G | T |
| rs140059558 | 24648384 | 4322 | MMP13 | umls:C0432225 | UNIPROT | MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type. | 0.36 | 2013 | MMP13 | 11 | 102954174 | A | C,G |
| rs140059558 | NA | 4322 | MMP13 | umls:C0432225 | CLINVAR | NA | 0.36 | NA | MMP13 | 11 | 102954174 | A | C,G |
| rs369083541 | NA | 4322 | MMP13 | umls:C0432225 | CLINVAR | NA | 0.36 | NA | MMP13 | 11 | 102955289 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:11) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000234 | Abnormality of the head | MP:0004613 | fusion of vertebral arches | improper union of the dorsal part of adjacent vertebra |
| HP:0000670 | Carious teeth | MP:0004033 | supernumerary teeth | occurrence of more than the usual number of teeth |
| HP:0006487 | Bowing of the long bones | 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: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:0003498 | Disproportionate short stature | MP:0009071 | short oviduct | length reduction or truncation of the tube through which the ova pass from the ovary to the uterus |
| 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:0006385 | Short lower limbs | MP:0000547 | short limbs | reduced average length of the extremities |
| HP:0002515 | Waddling gait | MP:0001406 | abnormal gait | abnormal pattern of movement of the limbs of animals, characterized by elements of progression, stability, speed and length over the ground |
| HP:0000164 | Abnormality of the teeth | MP:0010382 | abnormal dosage compensation, by inactivation of X chromosome | anomaly in the process of compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex |
| HP:0004349 | Reduced bone mineral density | MP:0013630 | increased bone trabecular spacing | increase in the amount of space between trabeculae in cancellous bone |
| HP:0002750 | Delayed skeletal maturation | MP:0003379 | absent sexual maturation | failure to initiate pubertal changes that result in achievement of full sexual capacity |
Mapped by homologous gene(Total Items:23) | ||||
|---|---|---|---|---|
| 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:0001385 | Hip dysplasia | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| HP:0005930 | Abnormality of epiphysis morphology | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0004979 | Metaphyseal sclerosis | MP:0012114 | absent inner cell mass proliferation | |
| HP:0000164 | Abnormality of the teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003307 | Hyperlordosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001288 | Gait disturbance | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002515 | Waddling gait | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0005871 | Metaphyseal chondrodysplasia | 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:0000234 | Abnormality of the head | MP:0013168 | absent hindlimb buds | absence or loss of the limb bud that normally develops into a hindlimb (usually the leg or back limb in mammalian species) |
| HP:0002970 | Genu varum | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002857 | Genu valgum | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0006487 | Bowing of the long bones | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000670 | Carious teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0006385 | Short lower limbs | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006409 | Progressive leg bowing | MP:0010872 | increased trabecular bone mass | greater total amount of trabecular bone tissue contained in the skeleton |
| HP:0100255 | Metaphyseal dysplasia | 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:0001270 | Motor delay | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002750 | Delayed skeletal maturation | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0004349 | Reduced bone mineral density | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003498 | Disproportionate short stature | MP:0011495 | abnormal head shape | any anomaly in the characteristic surface outline or contour of a head of an organism |
| HP:0000944 | Abnormality of the metaphyses | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003016 | Metaphyseal widening | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 1788 |
|---|---|
| Disease | metaphyseal chondrodysplasia, spahr type |
| Case | (Waiting for update.) |