eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| desmosterolosis | ||||
| Disease ID | 896 |
|---|---|
| Disease | desmosterolosis |
| Definition | Desmosterolosis is a defect in cholesterol biosynthesis.[1] It results in an accumulation of desmosterol.[2] - Wikipedia Reference: https://en.wikipedia.org/wiki/desmosterolosis |
| Synonym | desmosterolosis (disorder) |
| Orphanet | |
| OMIM | |
| UMLS | C1865596 |
| 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) DHCR24 | 1p32.3 |
| Disease ID | 896 |
|---|---|
| Disease | desmosterolosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:88) HP:0000639 | Nystagmus HP:0005789 | Generalized osteosclerosis HP:0008905 | Rhizomelic short limbs HP:0000033 | Ambiguous genitalia, male HP:0001339 | Lissencephaly HP:0001257 | Spasticity HP:0000347 | Micrognathia HP:0002536 | Abnormal cortical gyration HP:0004482 | Macrocephaly, relative HP:0000193 | Bifid uvula HP:0009748 | Large earlobe HP:0001302 | Pachygyria HP:0001338 | Partial agenesis of the corpus callosum HP:0000175 | Cleft palate HP:0009473 | Joint contracture of the hand HP:0000256 | Macrocephaly HP:0007370 | Absent/hypoplastic corpus callosum HP:0011001 | Increased bone mineral density HP:0000252 | Microcephaly HP:0002063 | Rigidity HP:0001508 | Failure to thrive HP:0000169 | Gingival fibrous nodules HP:0001744 | Splenomegaly HP:0001883 | Talipes HP:0002566 | Intestinal malrotation HP:0002133 | Status epilepticus HP:0000347 | Hypoplasia of mandible HP:0001331 | Absent septum pellucidum HP:0000463 | Nostrils anteverted HP:0002007 | Frontal bossing HP:0002007 | Frontal protruberance HP:0000175 | Palatoschisis HP:0002804 | Arthrogryposis multiplex congenita HP:0001276 | Hypertonia HP:0000286 | Epicanthus HP:0001263 | Developmental retardation HP:0009085 | Alveolar ridge excess HP:0001249 | Intellectual disability HP:0000238 | Nonsyndromal hydrocephalus HP:0000368 | Low-set, posteriorly rotated ears HP:0000238 | Hydrocephalus HP:0002983 | Micromelia HP:0003107 | Abnormality of cholesterol metabolism HP:0000160 | Narrow mouth HP:0000363 | Abnormality of earlobe HP:0003196 | Short nose HP:0002119 | Ventriculomegaly HP:0005280 | Depressed nasal bridge HP:0008678 | Renal hypoplasia/aplasia HP:0000369 | Low-set ears HP:0010772 | Anomalous pulmonary venous return HP:0005281 | Hypoplastic nasal bridge HP:0001643 | Patent ductus arteriosus HP:0000494 | Downslanted palpebral fissures HP:0001250 | Seizures HP:0001643 | Persistent ductus arteriosus HP:0000061 | Ambiguous genitalia, female HP:0001508 | Weight faltering HP:0000278 | Retrognathia HP:0005160 | Total anomalous pulmonary venous return HP:0002126 | Polymicrogyria HP:0000378 | Cupped ear HP:0011220 | Prominent forehead HP:0000176 | Submucous cleft hard palate HP:0002119 | Ventricular dilatation HP:0001274 | Agenesis of corpus callosum HP:0000486 | Squint eyes HP:0007227 | Macrogyria HP:0003552 | Muscle stiffness HP:0000256 | Macrocrania HP:0001776 | Bilateral talipes equinovarus HP:0000366 | Abnormality of the nose HP:0002269 | Abnormality of neuronal migration HP:0000286 | Palpebronasal fold HP:0000486 | Strabismus HP:0000104 | Renal agenesis HP:0001511 | Intrauterine growth retardation HP:0000062 | Ambiguous genitalia HP:0000358 | Ear, posterior angulation, increased HP:0011968 | Feeding difficulties HP:0001510 | Growth delay HP:0000252 | Small head circumference HP:0011002 | Osteopetrosis HP:0003510 | Severe short stature HP:0004334 | Dermal atrophy HP:0001840 | Metatarsus adductus HP:0000494 | Downward slanting palpebral fissures HP:0008065 | Aplasia/Hypoplasia of the skin |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 896 |
|---|---|
| Disease | desmosterolosis |
| 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:9) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs119475041 | NA | 1718 | DHCR24 | umls:C1865596 | CLINVAR | NA | 0.481357209 | NA | DHCR24 | 1 | 54875134 | C | T,G |
| rs281797256 | NA | 1718 | DHCR24 | umls:C1865596 | CLINVAR | NA | 0.481357209 | NA | DHCR24 | 1 | 54865405 | C | G |
| rs281797257 | NA | 1718 | DHCR24 | umls:C1865596 | CLINVAR | NA | 0.481357209 | NA | DHCR24 | 1 | 54865442 | T | G |
| rs28939092 | 11519011 | 1718 | DHCR24 | umls:C1865596 | UNIPROT | Our data demonstrate that desmosterolosis is a cholesterol-biosynthesis disorder caused by mutations in DHCR24. | 0.481357209 | 2001 | DHCR24 | 1 | 54852372 | T | G |
| rs28939092 | NA | 1718 | DHCR24 | umls:C1865596 | CLINVAR | NA | 0.481357209 | NA | DHCR24 | 1 | 54852372 | T | G |
| rs28939093 | 11519011 | 1718 | DHCR24 | umls:C1865596 | UNIPROT | Our data demonstrate that desmosterolosis is a cholesterol-biosynthesis disorder caused by mutations in DHCR24. | 0.481357209 | 2001 | NA | NA | NA | NA | NA |
| rs387906938 | NA | 1718 | DHCR24 | umls:C1865596 | CLINVAR | NA | 0.481357209 | NA | DHCR24 | 1 | 54883698 | G | A |
| rs387906939 | NA | 1718 | DHCR24 | umls:C1865596 | CLINVAR | NA | 0.481357209 | NA | DHCR24 | 1 | 54883724 | C | T |
| rs387906940 | NA | 1718 | DHCR24 | umls:C1865596 | CLINVAR | NA | 0.481357209 | NA | DHCR24 | 1 | 54852346 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:28) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000061 | Ambiguous genitalia, female | MP:0001926 | female infertility | inability of female to produce live offspring |
| HP:0001643 | Patent ductus arteriosus | MP:0011662 | persistent truncus arteriosus type ii | complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; type II is characterized by separate but proximate origins of the left and right pulmonary arterial branches fro |
| HP:0001274 | Agenesis of corpus callosum | MP:0013808 | abnormal tunnel of Corti morphology | any structrual anomaly of the triangular, fluid-filled space normally found between the inner and outer rows of supporting pillar cells in the organ of Corti |
| HP:0003196 | Short nose | MP:0002233 | abnormal nose morphology | any structural anomaly of the organ that is specialized for smell and is part of the respiratory system |
| HP:0001508 | Failure to thrive | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| HP:0000160 | Narrow mouth | MP:0000452 | abnormal mouth morphology | any structural anomaly of the oral cavity |
| HP:0005280 | Depressed nasal bridge | MP:0013582 | abnormal lateral nasal gland morphology | any structural anomaly of the lateral nasal glands (the largest nasal secretory glands in rodents) which surround the maxillary sinus located in the lateral wall adjacent to each nasal passage and are characterized by cytologic features similar to those d |
| HP:0003107 | Abnormality of cholesterol metabolism | MP:0010161 | decreased brain cholesterol level | less than normal amount in the brain of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found i |
| HP:0000033 | Ambiguous genitalia, male | MP:0001925 | male infertility | inability of male to produce live offspring |
| HP:0000062 | Ambiguous genitalia | MP:0009202 | small external male genitalia | reduced size of the external masculine genital organs |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0003510 | Severe short stature | MP:0004355 | short radius | reduced length of the short bone of the lateral forearm |
| HP:0009473 | Joint contracture of the hand | MP:0012129 | failure of blastocyst formation | inability to form a blastocyst from a solid ball of cells known as a morula |
| HP:0000363 | Abnormality of earlobe | MP:0008163 | increased diameter of ulna | increased width of the cross-sectional distance that extends from one lateral edge of the ulna, through its center and to the opposite lateral edge |
| HP:0001331 | Absent septum pellucidum | MP:0012004 | abnormal septum pellucidum morphology | any structural anomaly of the thin, triangular, vertical membrane separating the anterior horns of the left and right lateral ventricles of the septum, which has strong projections to hypothalamic and midbrain regions and receives projections from the hip |
| HP:0000175 | Cleft palate | MP:0013550 | abnormal secondary palate morphology | |
| HP:0000366 | Abnormality of the nose | 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: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:0001338 | Partial agenesis of the corpus callosum | MP:0012129 | failure of blastocyst formation | inability to form a blastocyst from a solid ball of cells known as a morula |
| HP:0011001 | Increased bone mineral density | MP:0013630 | increased bone trabecular spacing | increase in the amount of space between trabeculae in cancellous bone |
| HP:0001511 | Intrauterine growth retardation | MP:0011109 | lethality throughout fetal growth and development, 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 the completion of organogenesis and birth (Mus: E14 to approximately E18.5) |
| HP:0000378 | Cupped ear | MP:0006286 | inner ear hypoplasia | underdevelopment or reduced size of inner ear structures, usually due to decreased cell number |
| HP:0002269 | Abnormality of neuronal migration | MP:0012129 | failure of blastocyst formation | inability to form a blastocyst from a solid ball of cells known as a morula |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| 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:0000176 | Submucous cleft hard 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:0002536 | Abnormal cortical gyration | MP:0000523 | cortical renal glomerulopathies | any disease of the capillary plexus in the kidney cortex |
| HP:0010772 | Anomalous pulmonary venous return | MP:0000531 | right pulmonary isomerism | anomaly in the asymmetry of the lung such that the lobes on both the left and right side have the morphology normally seen on the right side of the body |
Mapped by homologous gene(Total Items:76) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000193 | Bifid uvula | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000278 | Retrognathia | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0008905 | Rhizomelia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002063 | Rigidity | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001883 | Talipes | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002126 | Polymicrogyria | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0011002 | Osteopetrosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001302 | Pachygyria | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| 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:0000486 | Strabismus | 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:0002566 | Intestinal malrotation | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0002119 | Ventriculomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000463 | Anteverted nares | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0004334 | Dermal atrophy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003196 | Short nose | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000238 | Hydrocephalus | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0001331 | Absent septum pellucidum | 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: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:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0004482 | Relative macrocephaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0005789 | Generalized osteosclerosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000062 | Ambiguous genitalia | 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:0001257 | Spasticity | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002269 | Abnormality of neuronal migration | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001508 | Failure to thrive | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0007227 | Macrogyria | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001511 | Intrauterine growth retardation | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 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:0011968 | Feeding difficulties | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0001510 | Growth delay | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0002804 | Arthrogryposis multiplex congenita | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000358 | Posteriorly rotated ears | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005280 | Depressed nasal bridge | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000363 | Abnormality of earlobe | 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:0001643 | Patent ductus arteriosus | 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:0005160 | Total anomalous pulmonary venous return | MP:0013600 | testis degeneration | a retrogressive impairment of function or destruction of either or both of the male reproductive glands |
| HP:0003552 | Muscle stiffness | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0001263 | Global developmental delay | 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:0001276 | Hypertonia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000160 | Narrow mouth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0009748 | Large earlobe | 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: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: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:0011001 | Increased bone mineral density | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001338 | Partial agenesis of the corpus callosum | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0002983 | Micromelia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003510 | Severe short stature | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005281 | Hypoplastic nasal bridge | MP:0013600 | testis degeneration | a retrogressive impairment of function or destruction of either or both of the male reproductive glands |
| HP:0001776 | Bilateral talipes equinovarus | MP:0013600 | testis degeneration | a retrogressive impairment of function or destruction of either or both of the male reproductive glands |
| HP:0000378 | Cupped ear | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0003107 | Abnormality of cholesterol metabolism | MP:0013600 | testis degeneration | a retrogressive impairment of function or destruction of either or both of the male reproductive glands |
| 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:0001339 | Lissencephaly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0000286 | Epicanthus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0008678 | Renal hypoplasia/aplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000494 | Downslanted palpebral fissures | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001840 | Metatarsus adductus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000033 | Ambiguous genitalia, male | MP:0013600 | testis degeneration | a retrogressive impairment of function or destruction of either or both of the male reproductive glands |
| HP:0000368 | Low-set, posteriorly rotated ears | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002133 | Status epilepticus | MP:0020194 | abnormal glycosphingolipid level | any anomaly in the concentrations of glycosphingolipids, a subtype of glycolipids containing the amino alcohol sphingosine, in the body |
| HP:0000366 | Abnormality of the nose | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002536 | Abnormal cortical gyration | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0001274 | Agenesis of corpus callosum | 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:0000369 | Low-set ears | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000256 | Macrocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000061 | Ambiguous genitalia, female | MP:0013600 | testis degeneration | a retrogressive impairment of function or destruction of either or both of the male reproductive glands |
| HP:0008065 | Aplasia/Hypoplasia of the skin | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000104 | Renal agenesis | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| 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:0000176 | Submucous cleft hard palate | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000252 | Microcephaly | 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:0009085 | Alveolar ridge overgrowth | MP:0013600 | testis degeneration | a retrogressive impairment of function or destruction of either or both of the male reproductive glands |
| HP:0010772 | Anomalous pulmonary venous return | MP:0011109 | lethality throughout fetal growth and development, 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 the completion of organogenesis and birth (Mus: E14 to approximately E18.5) |
| HP:0000169 | Gingival fibromatosis | MP:0013600 | testis degeneration | a retrogressive impairment of function or destruction of either or both of the male reproductive glands |
| HP:0009473 | Joint contracture of the hand | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 896 |
|---|---|
| Disease | desmosterolosis |
| Case | (Waiting for update.) |