eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| glycogen storage disease ib | ||||
| Disease ID | 1420 |
|---|---|
| Disease | glycogen storage disease ib |
| Definition | Glycogen storage disease type I that is caused by mutations in the SLC37A4 gene. It is characterized by a deficiency of glucose-6-phosphate translocase. It may be associated with neutropenia resulting in recurrent bacterial infections, inflammatory bowel disease, gingivitis, periodontal disease, and mouth ulcers. |
| Synonym | glucose 6-phosphate transport defect glucose-6-phosphate transport defect glucose-6-phosphate transport defect (disorder) glycogen storage disease type i non-a glycogen storage disease type ib gsd ib gsd1b |
| OMIM | |
| UMLS | C0268146 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:9) C0027947 | neutropenia | 2 C0021390 | inflammatory bowel disease | 1 C0020617 | hypoglycaemic coma | 1 C0021831 | bowel disease | 1 C0030312 | pancytopenia | 1 C0020598 | hypoglycaemia | 1 C0023890 | liver cirrhosis | 1 C0023890 | cirrhosis | 1 C0002871 | anemia | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1420 |
|---|---|
| Disease | glycogen storage disease ib |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:24) HP:0002240 | Enlarged liver HP:0000105 | Renal enlargement HP:0000155 | Oral ulcer HP:0000823 | Pubertal delay HP:0000097 | focal glomerulosclerosis HP:0002910 | Elevated transaminases HP:0000093 | Proteinuria HP:0012213 | Reduced creatinine clearance HP:0001997 | Gout HP:0004322 | Stature below 3rd percentile HP:0000295 | Doll-like facies HP:0000822 | Hypertension HP:0001943 | Hypoglycemia HP:0001538 | Protuberant abdomen HP:0000991 | Xanthomata HP:0001402 | Hepatocellular carcinoma HP:0002718 | Recurrent pyogenic infections HP:0003128 | Lactic acidosis HP:0001733 | Pancreatic inflammation HP:0003077 | Hyperlipidemia HP:0000939 | Osteoporosis HP:0001875 | Neutropenia HP:0000787 | Renal calculi HP:0000660 | Lipemia retinalis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:8) HP:0001875 | Neutropenia | 2 HP:0001259 | Coma | 1 HP:0001903 | Anemia | 1 HP:0001325 | Coma caused by low blood sugar | 1 HP:0001433 | Enlarged liver and spleen | 1 HP:0001943 | Hypoglycemia | 1 HP:0001876 | Low blood cell count | 1 HP:0001394 | Hepatic cirrhosis | 1 |
| Disease ID | 1420 |
|---|---|
| Disease | glycogen storage disease ib |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:5) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:60) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908975 | NA | 2542 | SLC37A4 | umls:C0268146 | CLINVAR | NA | 0.443528744 | NA | SLC37A4 | 11 | 119025251 | C | T,A |
| rs121908976 | NA | 2542 | SLC37A4 | umls:C0268146 | CLINVAR | NA | 0.443528744 | NA | SLC37A4 | 11 | 119028288 | C | T |
| rs121908977 | NA | 2542 | SLC37A4 | umls:C0268146 | CLINVAR | NA | 0.443528744 | NA | SLC37A4 | 11 | 119027016 | CAC | - |
| rs121908978 | NA | 2542 | SLC37A4 | umls:C0268146 | CLINVAR | NA | 0.443528744 | NA | SLC37A4 | 11 | 119029287 | C | T |
| rs121908978 | 10026167 | 2542 | SLC37A4 | umls:C0268146 | UNIPROT | Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. | 0.443528744 | 1999 | SLC37A4 | 11 | 119029287 | C | T |
| rs121908979 | NA | 2542 | SLC37A4 | umls:C0268146 | CLINVAR | NA | 0.443528744 | NA | SLC37A4 | 11 | 119024957 | G | A |
| rs121908980 | NA | 2542 | SLC37A4 | umls:C0268146 | CLINVAR | NA | 0.443528744 | NA | SLC37A4 | 11 | 119025298 | C | T |
| rs121908980 | 10931421 | 2542 | SLC37A4 | umls:C0268146 | UNIPROT | Glycogen storage disease type Ib without neutropenia. | 0.443528744 | 2000 | SLC37A4 | 11 | 119025298 | C | T |
| rs1801175 | NA | 2538 | G6PC | umls:C0268146 | CLINVAR | NA | 0.122714419 | NA | G6PC | 17 | 42903947 | C | T |
| rs1801176 | NA | 2538 | G6PC | umls:C0268146 | CLINVAR | NA | 0.122714419 | NA | G6PC | 17 | 42903948 | G | A |
| rs193302877 | 21629566 | 2542 | SLC37A4 | umls:C0268146 | UNIPROT | A novel mutation in SLC37A4 gene in a Sri Lankan boy with glycogen storage disease type Ib associated with very early onset neutropenia. | 0.443528744 | 2011 | SLC37A4 | 11 | 119028426 | C | T |
| rs193302878 | 19579760 | 2542 | SLC37A4 | umls:C0268146 | UNIPROT | Glycogen storage disease type Ib: the first case in Taiwan. | 0.443528744 | 2009 | SLC37A4 | 11 | 119026985 | A | G |
| rs193302879 | 15953877 | 2542 | SLC37A4 | umls:C0268146 | UNIPROT | A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b. | 0.443528744 | 2005 | SLC37A4 | 11 | 119027811 | G | A |
| rs193302880 | 10482962 | 2542 | SLC37A4 | umls:C0268146 | UNIPROT | The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a. | 0.443528744 | 1999 | SLC37A4 | 11 | 119026053 | G | A |
| rs193302881 | 9758626 | 2542 | SLC37A4 | umls:C0268146 | UNIPROT | A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. | 0.443528744 | 1998 | SLC37A4 | 11 | 119029311 | C | T |
| rs193302882 | 9758626 | 2542 | SLC37A4 | umls:C0268146 | UNIPROT | A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. | 0.443528744 | 1998 | SLC37A4 | 11 | 119029288 | G | A |
| rs193302883 | 9758626 | 2542 | SLC37A4 | umls:C0268146 | UNIPROT | A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. | 0.443528744 | 1998 | SLC37A4 | 11 | 119027806 | C | T |
| rs193302884 | 9758626 | 2542 | SLC37A4 | umls:C0268146 | UNIPROT | A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. | 0.443528744 | 1998 | SLC37A4 | 11 | 119028412 | T | G |
| rs193302885 | 9758626 | 2542 | SLC37A4 | umls:C0268146 | UNIPROT | A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. | 0.443528744 | 1998 | SLC37A4 | 11 | 119028373 | C | T |
| rs193302886 | 9758626 | 2542 | SLC37A4 | umls:C0268146 | UNIPROT | A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. | 0.443528744 | 1998 | SLC37A4 | 11 | 119028312 | C | T |
| rs193302887 | NA | 2542 | SLC37A4 | umls:C0268146 | CLINVAR | NA | 0.443528744 | NA | SLC37A4 | 11 | 119029300 | A | G |
| rs193302887 | 12409273 | 2542 | SLC37A4 | umls:C0268146 | UNIPROT | Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b. | 0.443528744 | 2002 | SLC37A4 | 11 | 119029300 | A | G |
| rs193302888 | NA | 2542 | SLC37A4 | umls:C0268146 | CLINVAR | NA | 0.443528744 | NA | SLC37A4 | 11 | 119027681 | G | A |
| rs193302888 | 10874322 | 2542 | SLC37A4 | umls:C0268146 | UNIPROT | A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b. | 0.443528744 | 2000 | SLC37A4 | 11 | 119027681 | G | A |
| rs193302889 | 10923042 | 2542 | SLC37A4 | umls:C0268146 | UNIPROT | Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients. | 0.443528744 | 2000 | SLC37A4 | 11 | 119029289 | A | T |
| rs193302890 | 10923042 | 2542 | SLC37A4 | umls:C0268146 | UNIPROT | Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients. | 0.443528744 | 2000 | SLC37A4 | 11 | 119027796 | G | A |
| rs193302891 | 10923042 | 2542 | SLC37A4 | umls:C0268146 | UNIPROT | Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients. | 0.443528744 | 2000 | SLC37A4 | 11 | 119026049 | T | G |
| rs193302892 | NA | 2542 | SLC37A4 | umls:C0268146 | UNIPROT | NA | 0.443528744 | NA | SLC37A4 | 11 | 119027808 | C | T |
| rs193302893 | 10482962 | 2542 | SLC37A4 | umls:C0268146 | UNIPROT | The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a. | 0.443528744 | 1999 | SLC37A4 | 11 | 119027706 | A | G |
| rs193302894 | 10482962 | 2542 | SLC37A4 | umls:C0268146 | UNIPROT | The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a. | 0.443528744 | 1999 | SLC37A4 | 11 | 119029222 | C | G |
| rs193302895 | 10482962 | 2542 | SLC37A4 | umls:C0268146 | UNIPROT | The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a. | 0.443528744 | 1999 | SLC37A4 | 11 | 119027728 | A | G |
| rs193302898 | 11071391 | 2542 | SLC37A4 | umls:C0268146 | UNIPROT | Mutation analysis in glycogen storage disease type 1 non-a. | 0.443528744 | 2000 | SLC37A4 | 11 | 119028413 | G | T |
| rs193302899 | 11949931 | 2542 | SLC37A4 | umls:C0268146 | UNIPROT | Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex. | 0.443528744 | 2002 | SLC37A4 | 11 | 119028321 | A | G |
| rs193302900 | 11949931 | 2542 | SLC37A4 | umls:C0268146 | UNIPROT | Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex. | 0.443528744 | 2002 | SLC37A4 | 11 | 119026640 | A | T |
| rs193302900 | NA | 2542 | SLC37A4 | umls:C0268146 | CLINVAR | NA | 0.443528744 | NA | SLC37A4 | 11 | 119026640 | A | T |
| rs193302901 | 11949931 | 2542 | SLC37A4 | umls:C0268146 | UNIPROT | Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex. | 0.443528744 | 2002 | SLC37A4 | 11 | 119025196 | G | T,C |
| rs193302902 | 15669677 | 2542 | SLC37A4 | umls:C0268146 | UNIPROT | Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases. | 0.443528744 | 2004 | SLC37A4 | 11 | 119027035 | A | G |
| rs193302903 | 9781688 | 2542 | SLC37A4 | umls:C0268146 | UNIPROT | Structure and mutation analysis of the glycogen storage disease type 1b gene. | 0.443528744 | 1998 | SLC37A4 | 11 | 119026052 | C | T |
| rs551439289 | NA | 2542 | SLC37A4 | umls:C0268146 | CLINVAR | NA | 0.443528744 | NA | SLC37A4 | 11 | 119027069 | G | A |
| rs606231368 | NA | 2538 | G6PC | umls:C0268146 | CLINVAR | NA | 0.122714419 | NA | G6PC | 17 | 42907561 | - | AT |
| rs781784543 | NA | 2542 | SLC37A4 | umls:C0268146 | CLINVAR | NA | 0.443528744 | NA | SLC37A4 | 11 | 119026979 | G | A |
| rs786204477 | NA | 2542 | SLC37A4 | umls:C0268146 | CLINVAR | NA | 0.443528744 | NA | SLC37A4 | 11 | 119026016 | - | TCATGCCAGCCA |
| rs786204637 | NA | 2542 | SLC37A4 | umls:C0268146 | CLINVAR | NA | 0.443528744 | NA | SLC37A4 | 11 | 119028193 | C | T |
| rs786204740 | NA | 2542 | SLC37A4 | umls:C0268146 | CLINVAR | NA | 0.443528744 | NA | SLC37A4 | 11 | 119029369 | T | C |
| rs80356479 | NA | 2538 | G6PC | umls:C0268146 | CLINVAR | NA | 0.122714419 | NA | G6PC | 17 | 42900955 | C | - |
| rs80356482 | NA | 2538 | G6PC | umls:C0268146 | CLINVAR | NA | 0.122714419 | NA | G6PC | 17 | 42909418 | G | A,C |
| rs80356483 | NA | 2538 | G6PC | umls:C0268146 | CLINVAR | NA | 0.122714419 | NA | G6PC | 17 | 42911161 | G | T |
| rs80356484 | NA | 2538 | G6PC | umls:C0268146 | CLINVAR | NA | 0.122714419 | NA | G6PC | 17 | 42911000 | G | T |
| rs80356485 | NA | 2538 | G6PC | umls:C0268146 | CLINVAR | NA | 0.122714419 | NA | G6PC | 17 | 42911076 | C | T |
| rs80356486 | NA | 2538 | G6PC | umls:C0268146 | CLINVAR | NA | 0.122714419 | NA | G6PC | 17 | 42911331 | TTC | - |
| rs80356487 | NA | 2538 | G6PC | umls:C0268146 | CLINVAR | NA | 0.122714419 | NA | G6PC | 17 | 42911391 | C | G,T |
| rs80356488 | NA | 2538 | G6PC | umls:C0268146 | CLINVAR | NA | 0.122714419 | NA | G6PC | 17 | 42907562 | - | TA |
| rs80356489 | 10482875 | 2542 | SLC37A4 | umls:C0268146 | UNIPROT | Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene. | 0.443528744 | 1999 | SLC37A4 | 11 | 119028223 | A | G |
| rs80356489 | NA | 2542 | SLC37A4 | umls:C0268146 | CLINVAR | NA | 0.443528744 | NA | SLC37A4 | 11 | 119028223 | A | G |
| rs80356489 | 15059622 | 2542 | SLC37A4 | umls:C0268146 | BeFree | Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R. | 0.443528744 | 2004 | SLC37A4 | 11 | 119028223 | A | G |
| rs80356490 | NA | 2542 | SLC37A4 | umls:C0268146 | CLINVAR | NA | 0.443528744 | NA | SLC37A4 | 11 | 119025299 | C | A |
| rs80356490 | 9428641 | 2542 | SLC37A4 | umls:C0268146 | UNIPROT | Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib. | 0.443528744 | 1997 | SLC37A4 | 11 | 119025299 | C | A |
| rs80356491 | NA | 2542 | SLC37A4 | umls:C0268146 | CLINVAR | NA | 0.443528744 | NA | SLC37A4 | 11 | 119025271 | AG | - |
| rs80356492 | 10518030 | 2542 | SLC37A4 | umls:C0268146 | UNIPROT | Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c. | 0.443528744 | 1999 | SLC37A4 | 11 | 119025215 | C | T |
| rs80356492 | NA | 2542 | SLC37A4 | umls:C0268146 | CLINVAR | NA | 0.443528744 | NA | SLC37A4 | 11 | 119025215 | 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:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003128 | Lactic acidosis | MP:0003031 | acidosis | a pathological state characterized by an increase in the hydrogen ion concentration in tissues and blood caused by an decrease in the concentration of alkaline compounds, or by a increase in the concentration of acidic compounds or carbon dioxide to the b |
| HP:0000097 | Focal segmental glomerulosclerosis | MP:0005264 | glomerulosclerosis | hyaline deposits or scarring within the renal glomeruli, often occurring with renal arteriosclerosis or diabetes |
| HP:0002910 | Elevated hepatic transaminases | MP:0002628 | hepatic steatosis | an accumulation of fat deposits in the liver |
| HP:0001402 | Hepatocellular carcinoma | MP:0010367 | increased spindle cell carcinoma incidence | greater than the expected number of a highly malignant variant of squamous cell carcinoma, occurring in a specific population in a given time period; spindle cell carcinoma shows biphasic proliferation of conventional SCC component and malignant spindle s |
| HP:0002718 | Recurrent bacterial infections | 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:0001538 | Protuberant abdomen | MP:0001270 | distended abdomen | abdomen appears curved outward or swollen |
Mapped by homologous gene(Total Items:24) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003077 | Hyperlipidemia | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0000097 | Focal segmental glomerulosclerosis | MP:0013310 | abnormal adrenal gland development | aberrant formation or incomplete differentiation of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the m |
| HP:0000105 | Enlarged kidneys | MP:0013723 | increased circulating tyrosine level | the amount of the amino acid histidine in the blood is more than expected |
| 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:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000295 | Doll-like facies | MP:0011363 | renal glomerulus atrophy | acquired diminution of the size of the capillary loops of the kidney associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfu |
| HP:0000991 | Xanthomatosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000093 | Proteinuria | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0000939 | Osteoporosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003128 | Lactic acidosis | 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:0001997 | Gout | 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:0002910 | Elevated hepatic transaminases | 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:0001943 | Hypoglycemia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000155 | Oral ulcer | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0012213 | Decreased glomerular filtration rate | MP:0011363 | renal glomerulus atrophy | acquired diminution of the size of the capillary loops of the kidney associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfu |
| HP:0000787 | Nephrolithiasis | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001402 | Hepatocellular carcinoma | MP:0013745 | abnormal eyelid margin morphology | any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium |
| HP:0000823 | Delayed puberty | MP:0020087 | increased susceptibility to non-insulin-dependent diabetes | increased likelihood to develop non-insulin-dependent diabetes |
| HP:0000660 | Lipemia retinalis | MP:0011582 | decreased triglyceride lipase activity | reduced ability to catalyze the reaction: triacylglycerol + H2O = diacylglycerol + a fatty acid anion |
| HP:0001875 | Neutropenia | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0002718 | Recurrent bacterial infections | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0001733 | Pancreatitis | MP:0020134 | abnormal gallbladder size | an anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile |
| HP:0001538 | Protuberant abdomen | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000822 | Hypertension | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| Disease ID | 1420 |
|---|---|
| Disease | glycogen storage disease ib |
| Case | (Waiting for update.) |