eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| dysosteosclerosis | ||||
| Disease ID | 895 |
|---|---|
| Disease | dysosteosclerosis |
| Synonym | dysosteosclerosis (disorder) |
| Orphanet | |
| OMIM | |
| UMLS | C0432262 |
| 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) SLC29A3 | 10q22.1 |
| Disease ID | 895 |
|---|---|
| Disease | dysosteosclerosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:65) HP:0000639 | Nystagmus HP:0000938 | Decreased bone mineral density HP:0000311 | Round facial shape HP:0000677 | Failure of development of more than six teeth HP:0004334 | Atrophic skin HP:0006429 | Broadening of femoral neck HP:0000682 | Abnormality of dental enamel HP:0004322 | Short stature HP:0000347 | Hypoplasia of mandible HP:0000242 | Bossing of parietal bone HP:0003498 | Disproportionate short stature HP:0000365 | Hearing impairment HP:0001629 | Ventricular septal defect HP:0002376 | Loss of developmental milestones HP:0005019 | Diaphyseal thickening HP:0002376 | Developmental regression HP:0002868 | Narrow iliac wings HP:0001474 | Sclerotic scapulae HP:0002870 | Obstructive sleep apnea HP:0000648 | Optic-nerve degeneration HP:0003301 | Irregular vertebral endplates HP:0008479 | Hypoplastic vertebral bodies HP:0000941 | Short shaft of long bone HP:0011349 | Sixth nerve palsy HP:0000618 | Blindness HP:0006480 | Premature loss of teeth HP:0001291 | Abnormality of the cranial nerves HP:0100923 | Clavicular sclerosis HP:0000879 | Short sternum HP:0000316 | Hypertelorism HP:0000684 | Delayed eruption of teeth HP:0002007 | Frontal protruberance HP:0002689 | Absence of paranasal sinuses HP:0000695 | Natal teeth HP:0003015 | Metaphyseal splaying HP:0001249 | Mental retardation HP:0030320 | Increased intervertebral space HP:0001250 | Seizures HP:0008065 | Aplasia/Hypoplasia of the skin HP:0002694 | Sclerosis of skull base HP:0001476 | Late closure of the bregma sutures HP:0007209 | Facial paresis HP:0008479 | Small vertebrae HP:0000256 | Macrocephaly HP:0000773 | Rib hypoplasia HP:0002688 | Absent frontal sinuses HP:0000218 | Increased palatal height HP:0002757 | Recurrent fractures HP:0000885 | Wide ribs HP:0000774 | Low chest circumference HP:0002514 | Cerebral calcification HP:0006383 | Progressive bowing of long bones HP:0004493 | Craniofacial hyperostosis HP:0000648 | Optic atrophy HP:0000926 | Platyspondyly HP:0003301 | vertebral endplate irregularity HP:0000926 | Flattened vertebral bodies HP:0001249 | Intellectual disability HP:0011001 | Increased bone mineral density HP:0005089 | Abnormal metaphyseal trabeculation HP:0004054 | Generalized sclerosis of hand bones HP:0002659 | Increased tendency to fractures HP:0011220 | Prominent forehead HP:0100670 | Rough bone trabeculation HP:0000944 | Abnormality of the metaphyses |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 895 |
|---|---|
| Disease | dysosteosclerosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0040456 | impacted teeth |
| 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: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:24) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001476 | Delayed closure of the anterior fontanelle | MP:0009886 | failure of palatal shelf elevation | the palatal shelves fail to move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue |
| HP:0002694 | Sclerosis of skull base | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0002659 | Increased susceptibility to fractures | MP:0009788 | increased susceptibility to bacterial infection induced morbidity/mortality | increased likelihood that an organism will display the expected moribund state caused by a bacterial invasion or from components of or toxins produced by bacteria |
| HP:0000648 | Optic atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0000773 | Short ribs | MP:0004672 | short ribs | reduced length of the bones forming the bony wall of the chest |
| 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:0000879 | Short sternum | MP:0008277 | abnormal sternum ossification | anomaly in the process of the formation of the sternum bone by the replacement of cartilage tissue with mineralized bone |
| HP:0000218 | High palate | MP:0011615 | submucous cleft palate | a cleft of the palate with cardinal signs including a bifid uvula, a V-shaped notch at the back of the hard palate, and/or a translucent line in the midline of the soft palate and a short palate |
| 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:0002757 | Recurrent fractures | MP:0004675 | rib fractures | a crack or break in the bones forming the bony wall of the chest |
| HP:0000695 | Natal tooth | MP:0002100 | abnormal tooth morphology | atypical size, shape or hard tissue structure of the teeth |
| HP:0000311 | Round face | MP:0012546 | triangular face | a face whose lower half becomes relatively thin, approaching an appearance of a triangle with a tip facing downwards; usually associated with a prominent forehead and micrognathia |
| HP:0006480 | Premature loss of teeth | 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:0001291 | Abnormality of the cranial nerves | MP:0008156 | decreased diameter of tibia | reduced width of the cross-sectional distance that extends from one lateral edge of the tibia, through its center and to the opposite lateral edge |
| HP:0008065 | Aplasia/Hypoplasia of the skin | 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:0011001 | Increased bone mineral density | MP:0013630 | increased bone trabecular spacing | increase in the amount of space between trabeculae in cancellous bone |
| HP:0000684 | Delayed eruption of teeth | 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:0000682 | Abnormality of dental enamel | 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: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:0003301 | Irregular vertebral endplates | MP:0004667 | vertebral body hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the main cylindrical portion of the vertebra ventral to the vertebral canal |
| HP:0004334 | Dermal atrophy | MP:0011346 | renal tubule atrophy | acquired diminution of the size of the loops of Henle, the proximal convoluted tubule or the distal convoluted tubule associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, |
| HP:0001629 | Ventricular septal defect | MP:0011667 | double outlet right ventricle with atrioventricular septal defect | a form of DORV in which there is also a complete atrioventricular canal |
| HP:0100670 | Rough bone trabeculation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000885 | Broad ribs | MP:0004676 | wide ribs | an increase in the width of the bones forming the bony wall of the chest |
Mapped by homologous gene(Total Items:59) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0007209 | Facial paralysis | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0000695 | Natal tooth | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000941 | Short diaphyses | MP:0013178 | tail necrosis | morphological changes resulting from pathological death of tail tissue; usually due to irreversible damage |
| 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:0004493 | Craniofacial hyperostosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001250 | Seizures | 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:0004054 | Sclerosis of hand bone | MP:0011080 | increased macrophage apoptosis | greater incidence of cell death in macrophages |
| HP:0000677 | Oligodontia | MP:0014166 | ectopic cranial bone | the appearance of an extra bone structure at an atypical location in or near the cranium |
| HP:0004334 | Dermal atrophy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000879 | Short sternum | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0003015 | Flared metaphysis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0004322 | Short stature | 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:0001629 | Ventricular septal defect | 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:0000682 | Abnormality of dental enamel | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006429 | Broad femoral neck | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0000347 | Micrognathia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0100923 | Clavicular sclerosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002694 | Sclerosis of skull base | MP:0013781 | abnormal mammary gland luminal epithelium morphology | any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti |
| HP:0000316 | Hypertelorism | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000618 | Blindness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000242 | Parietal bossing | 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:0003301 | Irregular vertebral endplates | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002868 | Narrow iliac wings | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0030320 | Increased intervertebral space | MP:0011080 | increased macrophage apoptosis | greater incidence of cell death in macrophages |
| HP:0000938 | Osteopenia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002757 | Recurrent fractures | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001291 | Abnormality of the cranial nerves | MP:0013906 | absent embryonic telencephalon | absence of the paired diverticula of the embryonic telencephalon, from which the forebrain develops |
| HP:0002870 | Obstructive sleep apnea | MP:0012431 | increased lymphoma incidence | greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period |
| HP:0006480 | Premature loss of teeth | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002376 | Developmental regression | 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:0001474 | Sclerotic scapulae | 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:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0011001 | Increased bone mineral density | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002689 | Absent paranasal sinuses | 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:0005089 | Abnormal metaphyseal trabeculation | MP:0011104 | embryonic lethality before implantation, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and implantation (Mus: E0 to less than E4.5) |
| HP:0011220 | Prominent forehead | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000311 | Round face | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000218 | High palate | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000639 | Nystagmus | 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:0000684 | Delayed eruption of teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002514 | Cerebral calcification | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000944 | Abnormality of the metaphyses | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000885 | Broad ribs | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000926 | Platyspondyly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002659 | Increased susceptibility to fractures | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0005019 | Diaphyseal thickening | MP:0013178 | tail necrosis | morphological changes resulting from pathological death of tail tissue; usually due to irreversible damage |
| HP:0011349 | Abducens palsy | 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:0000773 | Short ribs | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0008065 | Aplasia/Hypoplasia of the skin | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000256 | Macrocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| 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:0100670 | Rough bone trabeculation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002007 | Frontal bossing | 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:0000648 | Optic atrophy | 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:0001476 | Delayed closure of the anterior fontanelle | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006383 | Progressive bowing of long bones | MP:0011080 | increased macrophage apoptosis | greater incidence of cell death in macrophages |
| HP:0002688 | Absent frontal sinuses | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 895 |
|---|---|
| Disease | dysosteosclerosis |
| Case | (Waiting for update.) |