alagille syndrome |
Disease ID | 363 |
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Disease | alagille syndrome |
Definition | A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2). |
Synonym | ahd alagille syndrome [disease/finding] alagille watson syndrome alagille's syndrome alagille-watson syndrome alagilles syndrome algs arteriohepatic dysplasia arteriohepatic dysplasia (ahd) arteriohepatic dysplasia (disorder) aws cardiovertebral syndrome cholestasis with peripheral pulm stenosis cholestasis with peripheral pulmonary stenosis dysplasia, arteriohepatic dysplasia, arteriohepatic (ahd) hepatic ductular hypoplasia, syndromatic hepatofacioneurocardiovertebral syndrome syndrome alagille syndrome, alagille syndrome, alagille watson syndrome, alagille's syndrome, alagille-watson syndrome, cardiovertebral syndrome, hepatofacioneurocardiovertebral syndrome, watson alagille syndrome, watson miller syndrome, watson-miller watson alagille syndrome watson miller syndrome watson-alagille syndrome watson-miller syndrome |
Orphanet | |
OMIM | |
DOID | |
UMLS | C0085280 |
MeSH | |
SNOMED-CT | |
Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:20) C0023895 | liver disease | 3 C0020538 | hypertension | 2 C1510471 | hypovitaminosis | 1 C0023316 | lens subluxation | 1 C0043349 | xerophthalmia | 1 C0023890 | cirrhosis | 1 C0020443 | hypercholesterolemia | 1 C0026654 | moyamoya syndrome | 1 C0023794 | lipidosis | 1 C0018552 | hamartomas | 1 C0008312 | biliary cirrhosis | 1 C0020538 | vascular hypertension | 1 C0026654 | moyamoya | 1 C0158761 | radioulnar synostosis | 1 C0022658 | renal disease | 1 C0152455 | keratomalacia | 1 C0033687 | proteinuria | 1 C0035579 | hypovitaminosis d | 1 C0003507 | aortic stenosis | 1 C0008370 | cholestasis | 1 |
Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:42) 229 | ALDOB | 1.228 | DISEASES 344 | APOC2 | 1.228 | DISEASES 650 | BMP2 | 1.812 | DISEASES 23436 | CELA3B | 1.923 | DISEASES 1114 | CHGB | 1.544 | DISEASES 55748 | CNDP2 | 1.445 | DISEASES 780 | DDR1 | 1.391 | DISEASES 2304 | FOXE1 | 1.025 | DISEASES 2632 | GBE1 | 1.377 | DISEASES 84667 | HES7 | 2.553 | DISEASES 23462 | HEY1 | 2.784 | DISEASES 23493 | HEY2 | 3.462 | DISEASES 3714 | JAG2 | 1.262 | DISEASES 3855 | KRT7 | 1.312 | DISEASES 145873 | MESP2 | 3.734 | DISEASES 4242 | MFNG | 3.303 | DISEASES 4855 | NOTCH4 | 2.496 | DISEASES 5075 | PAX1 | 2.929 | DISEASES 23236 | PLCB1 | 1.553 | DISEASES 5332 | PLCB4 | 3.444 | DISEASES 23509 | POFUT1 | 2.26 | DISEASES 56342 | PPAN | 1.746 | DISEASES 3516 | RBPJ | 3.487 | DISEASES 6238 | RRBP1 | 1.536 | DISEASES 6406 | SEMG1 | 1.824 | DISEASES 5265 | SERPINA1 | 1.111 | DISEASES 10165 | SLC25A13 | 1.262 | DISEASES 11005 | SPINK5 | 1.187 | DISEASES 6899 | TBX1 | 2.66 | DISEASES 7058 | THBS2 | 1.224 | DISEASES 9414 | TJP2 | 1.565 | DISEASES 26276 | VPS33B | 2.231 | DISEASES 7709 | ZBTB17 | 2.387 | DISEASES 7586 | ZKSCAN1 | 2.536 | DISEASES 7692 | ZNF133 | 3.093 | DISEASES 7697 | ZNF138 | 3.571 | DISEASES 7702 | ZNF143 | 2.116 | DISEASES 7707 | ZNF148 | 2.091 | DISEASES 51710 | ZNF44 | 1.914 | DISEASES 115560 | ZNF501 | 1.955 | DISEASES 148266 | ZNF569 | 1.927 | DISEASES 284390 | ZNF763 | 1.955 | DISEASES |
Locus | (Waiting for update.) |
Disease ID | 363 |
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Disease | alagille syndrome |
Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:43) HP:0000028 | Cryptorchidism HP:0000615 | Abnormality of the pupil HP:0000307 | Pointed chin HP:0001629 | Ventricular septal defect HP:0100585 | Telangiectasia of the skin HP:0000248 | Brachycephaly HP:0003189 | Long nose HP:0001631 | Atrial septal defect HP:0000563 | Keratoconus HP:0008678 | Renal hypoplasia/aplasia HP:0000490 | Deeply set eye HP:0000347 | Micrognathia HP:0012368 | Flat face HP:0002007 | Frontal bossing HP:0006571 | Reduced number of intrahepatic bile ducts HP:0000486 | Strabismus HP:0003298 | Spina bifida occulta HP:0000316 | Hypertelorism HP:0000822 | Hypertension HP:0000069 | Abnormality of the ureter HP:0001511 | Intrauterine growth retardation HP:0000772 | Abnormality of the ribs HP:0000494 | Downslanted palpebral fissures HP:0001256 | Intellectual disability, mild HP:0003022 | Hypoplasia of the ulna HP:0003312 | Abnormal form of the vertebral bodies HP:0001396 | Cholestasis HP:0001131 | Corneal dystrophy HP:0001508 | Failure to thrive HP:0000823 | Delayed puberty HP:0002240 | Hepatomegaly HP:0004209 | Clinodactyly of the 5th finger HP:0000311 | Round face HP:0000322 | Short philtrum HP:0004617 | Butterfly vertebral arch HP:0000411 | Protruding ear HP:0003422 | Vertebral segmentation defect HP:0004969 | Peripheral pulmonary artery stenosis HP:0002750 | Delayed skeletal maturation HP:0000100 | Nephrotic syndrome HP:0001328 | Specific learning disability HP:0000280 | Coarse facial features HP:0009882 | Short distal phalanx of finger |
Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:22) HP:0001920 | Renal artery stenosis | 2 HP:0004415 | Pulmonary artery stenosis | 2 HP:0000822 | Hypertension | 2 HP:0001097 | Keratoconjunctivitis sicca | 1 HP:0002613 | Biliary cirrhosis | 1 HP:0000077 | Renal anomaly | 1 HP:0005037 | Proximal radio-ulnar synostosis | 1 HP:0003124 | Elevated serum cholesterol | 1 HP:0004969 | peripheral pulmonary stenosis | 1 HP:0001132 | Lens subluxation | 1 HP:0001396 | Cholestasis | 1 HP:0002974 | Fused forearm bones | 1 HP:0001627 | Congenital heart defects | 1 HP:0000627 | Embryotoxon | 1 HP:0002719 | infections, recurrent | 1 HP:0000110 | Renal dysplasia | 1 HP:0000952 | Yellow skin | 1 HP:0001394 | Hepatic cirrhosis | 1 HP:0002958 | Immune dysregulation | 1 HP:0000093 | Proteinuria | 1 HP:0001650 | Valvular aortic stenosis | 1 HP:0005743 | Perthes-like femoral head changes | 1 |
Disease ID | 363 |
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Disease | alagille syndrome |
Manually Symptom | (Waiting for update.) |
Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:4) | |||
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Gene | Mutation | DOI | Article Title |
JAG1 | Het del exon 3 | doi:10.1038/gim.2011.65 | Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders |
JAG1 | Het del whole gene | doi:10.1038/gim.2011.65 | Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders |
JAG1 | Het del exon 6–26 | doi:10.1038/gim.2011.65 | Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders |
JAG1 | - | doi:10.1038/gim.2015.51 | Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability |
Text Mining Genotype(Total Genotypes:0) | |
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(Waiting for update.) |
All Snps(Total Genotypes:2) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs145895196 | 23956173 | 182 | JAG1 | umls:C0085280 | BeFree | We report on a patient with tetralogy of Fallot (TOF) and clinical features of DG/VCFS, hemizygous for del22q11.2 and heterozygous for the 2810G > A (p.Arg937Gln) mutation in the JAG1 gene associated with Alagille syndrome. | 0.157628188 | 2013 | JAG1 | 20 | 10641566 | C | A,T |
rs28939668 | 19780835 | 182 | JAG1 | umls:C0085280 | BeFree | A specific G274D mutation in the second epidermal growth factor repeat of the Jagged-1 was found to correlate with tetralogy of Fallot symptoms but not with usual Alagille syndrome phenotypes. | 0.157628188 | 2009 | JAG1 | 20 | 10652533 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
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(Waiting for update.) |
GWASdb Snp Trait(Total Genotypes:0) | |
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(Waiting for update.) |
Mapped by lexical matching(Total Items:23) | ||||
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HP ID | HP Name | MP ID | MP Name | Annotation |
HP:0012368 | Flat face | MP:0012175 | flat face | the appearance of a flattened surface outline or contour of a normally rounded face of an organism |
HP:0000772 | Abnormality of the ribs | 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: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:0003422 | Vertebral segmentation defect | MP:0010412 | atrioventricular septal defect | defects in the thin membranous structure between the right atrium and left ventricle that arise from faulty development of the embryonic endocardial cushions; the spectrum ranges from a primum atrial septal defect and cleft mitral valve, known as a partia |
HP:0004209 | Clinodactyly of the 5th finger | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
HP:0004969 | Peripheral pulmonary artery stenosis | MP:0012537 | abnormal hyaloid artery morphology | any structural anomaly of the artery which arises from the dorsal ophthalmic artery and enters the eye cup through the optic (choroid) fissure; the hyaloid artery is contained within the optic stalk of the eye, extends from the optic disc through the vitr |
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:0001328 | Specific learning disability | MP:0002802 | abnormal discrimination learning | anomaly in the ability to exhibit a differential response to different stimuli that is achieved by the reinforcement of the desired response for each particular stimulus |
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:0001631 | Atria 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:0003298 | Spina bifida occulta | MP:0005297 | spina bifida occulta | defective closure of the laminae of the vertebral column in the lumbosacral region without hernial protrusion of the spinal cord or meninges; the mildest, most common and often asymptomatic form of spina bifida, identified externally by a skin depression |
HP:0000069 | Abnormality of the ureter | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
HP:0000280 | Coarse facial features | MP:0008018 | increased facial tumor incidence | greater than the expected number of neoplasms on the face, usually in the form of a distinct mass, in a specific population in a given time period |
HP:0000615 | Abnormality of the pupil | MP:0009657 | failure of chorioallantoic fusion | failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois |
HP:0000411 | Protruding ear | MP:0005105 | abnormal middle ear ossicle morphology | any structural anomaly of the three small bones of the middle ear |
HP:0002750 | Delayed skeletal maturation | MP:0003379 | absent sexual maturation | failure to initiate pubertal changes that result in achievement of full sexual capacity |
HP:0009882 | Short distal phalanx of finger | 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:0006571 | Reduced number of intrahepatic bile ducts | MP:0006241 | abnormal placement of pupils | abnormal location of the pupil so that it is not in the center of the iris |
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:0000490 | Deeply set eye | MP:0009829 | enlarged eye anterior chamber | increased size of the space in the eye, filled with aqueous humor, and bounded anteriorly by the cornea and a small portion of the sclera and posteriorly by a small portion of the ciliary body, the iris, and part of the crystalline lens |
HP:0003022 | Hypoplasia of the ulna | MP:0012167 | abnormal epigenetic regulation of gene expression | any anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA |
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:0100585 | Telangiectasia of the skin | MP:0011022 | abnormal circadian regulation of systemic arterial blood pressure | any anomaly in the process in which an organism modulates its blood pressure at different values with a regularity of approximately 24 hours |
Mapped by homologous gene(Total Items:43) | ||||
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HP ID | HP Name | MP ID | MP Name | Annotation |
HP:0000411 | Protruding 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:0001256 | Intellectual disability, mild | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
HP:0003422 | Vertebral segmentation defect | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
HP:0000322 | Short philtrum | 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:0001631 | Atria septal defect | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
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:0000069 | Abnormality of the ureter | 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:0004617 | Butterfly vertebral arch | MP:0013241 | embryo tissue necrosis | morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage |
HP:0000615 | Abnormality of the pupil | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
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:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
HP:0001396 | Cholestasis | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
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: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:0000772 | Abnormality of the ribs | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
HP:0009882 | Short distal phalanx of finger | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
HP:0000490 | Deeply set eye | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
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: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: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:0001131 | Corneal dystrophy | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
HP:0000248 | Brachycephaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
HP:0003189 | Long nose | 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:0001328 | Specific learning disability | 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:0006571 | Reduced number of intrahepatic bile ducts | MP:0013241 | embryo tissue necrosis | morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage |
HP:0003022 | Hypoplasia of the ulna | 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:0000563 | Keratoconus | MP:0013743 | ciliary body hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the thickened portion of the vascular tunic which lies between the choroid and the iris |
HP:0000823 | Delayed puberty | MP:0020087 | increased susceptibility to non-insulin-dependent diabetes | increased likelihood to develop non-insulin-dependent diabetes |
HP:0012368 | Flat face | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
HP:0004969 | Peripheral pulmonary artery stenosis | MP:0020040 | decreased bone ossification | decrease 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:0000311 | Round face | 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: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:0003298 | Spina bifida occulta | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
HP:0000100 | Nephrotic syndrome | 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:0000280 | Coarse facial features | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
HP:0004209 | Clinodactyly of the 5th finger | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
HP:0002750 | Delayed skeletal maturation | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
HP:0100585 | Telangiectasia of the skin | MP:0014127 | increased thymoma incidence | greater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseas |
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:0000307 | Pointed chin | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
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 | 363 |
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Disease | alagille syndrome |
Case | (Waiting for update.) |