eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| nijmegen breakage syndrome | ||||
| Disease ID | 58 |
|---|---|
| Disease | nijmegen breakage syndrome |
| Definition | A disorder, wherein unstable chromosomes have a tendency to break and become rearranged, characterized by microcephaly, stunted growth, subnormal mental development, cafe-au-lait spots, and immunodeficiency. The syndrome is named after the University of Nijmegen in the Netherlands. (JABL99) |
| Synonym | at-v1 ataxia telangiectasia variant 1 ataxia telangiectasia variant v1 ataxia-telangiectasia variant 1 ataxia-telangiectasia variant 1s ataxia-telangiectasia variant v1 ataxia-telangiectasia variant v1s bbs berlin breakage syndrome breakage syndrome, berlin breakage syndrome, nijmegen immunodeficiency, microcephaly, and chromosomal instability microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies microcephaly, normal intelligence and immunodeficiency microcephaly, normal intelligence and immunodeficiency (disorder) nbs nbs - nijmegen breakage syndrome nijmegen breakage syndrome [disease/finding] nonsyndromal microcephaly, autosomal recessive, with normal intelligence seemanova syndrome seemanova syndrome 2 seemanova syndrome ii syndrome, berlin breakage syndrome, nijmegen breakage variant 1s, ataxia-telangiectasia variant v1, ataxia-telangiectasia variant v1s, ataxia-telangiectasia |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0398791 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:52) 174 | AFP | 1.808 | DISEASES 79026 | AHNAK | 2.248 | DISEASES 54840 | APTX | 1.367 | DISEASES 545 | ATR | 3.762 | DISEASES 546 | ATRX | 2.073 | DISEASES 672 | BRCA1 | 3.458 | DISEASES 675 | BRCA2 | 2.493 | DISEASES 9738 | CCP110 | 2.698 | DISEASES 959 | CD40LG | 1.286 | DISEASES 962 | CD48 | 1.221 | DISEASES 1032 | CDKN2D | 1.625 | DISEASES 1111 | CHEK1 | 3.091 | DISEASES 11200 | CHEK2 | 4.395 | DISEASES 1870 | E2F2 | 1.186 | DISEASES 9166 | EBAG9 | 1.407 | DISEASES 2175 | FANCA | 1.639 | DISEASES 2188 | FANCF | 1.504 | DISEASES 29841 | GRHL1 | 2.364 | DISEASES 3014 | H2AFX | 4.947 | DISEASES 27198 | HCAR1 | 2.578 | DISEASES 51182 | HSPA14 | 2.357 | DISEASES 3836 | KPNA1 | 2.627 | DISEASES 3838 | KPNA2 | 3.576 | DISEASES 3981 | LIG4 | 4.124 | DISEASES 79648 | MCPH1 | 2.579 | DISEASES 9656 | MDC1 | 4.641 | DISEASES 4193 | MDM2 | 1.107 | DISEASES 4300 | MLLT3 | 1.214 | DISEASES 4609 | MYC | 1.558 | DISEASES 10763 | NES | 2.219 | DISEASES 79840 | NHEJ1 | 4.099 | DISEASES 734 | OSGIN2 | 3.002 | DISEASES 353497 | POLN | 3.413 | DISEASES 5888 | RAD51 | 3.33 | DISEASES 5893 | RAD52 | 3.563 | DISEASES 25788 | RAD54B | 3.247 | DISEASES 5932 | RBBP8 | 2.595 | DISEASES 29803 | REPIN1 | 2.351 | DISEASES 165918 | RNF168 | 2.173 | DISEASES 56254 | RNF20 | 3.246 | DISEASES 9025 | RNF8 | 1.935 | DISEASES 6118 | RPA2 | 2.997 | DISEASES 6196 | RPS6KA2 | 1.267 | DISEASES 9126 | SMC3 | 1.599 | DISEASES 23049 | SMG1 | 2.136 | DISEASES 6672 | SP100 | 1.099 | DISEASES 7158 | TP53BP1 | 3.314 | DISEASES 51720 | UIMC1 | 1.935 | DISEASES 7517 | XRCC3 | 2.121 | DISEASES 7518 | XRCC4 | 2.219 | DISEASES 7520 | XRCC5 | 1.775 | DISEASES 2547 | XRCC6 | 2.187 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) NBN | 8q21.3 |
| Disease ID | 58 |
|---|---|
| Disease | nijmegen breakage syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:83) HP:0010620 | Malar prominence HP:0006532 | Pneumonia, recurrent episodes HP:0000470 | Short neck HP:0000492 | Abnormality of the eyelid HP:0002023 | Anal atresia HP:0002110 | Bronchiectasis HP:0001480 | Freckling HP:0004322 | Short stature HP:0000347 | Hypoplasia of mandible HP:0001268 | Mental deterioration HP:0001890 | Autoimmune hemolytic anemia HP:0006532 | Recurrent pneumonia HP:0000453 | Blockage of the rear opening of the nasal cavity HP:0005280 | Depressed nasal bridge HP:0100515 | Pollakisuria HP:0003189 | Elongated nose HP:0012732 | Anorectal anomaly HP:0000957 | Cafe-au-lait macules HP:0002205 | Recurrent respiratory infections HP:0005403 | Decreased numbers of circulating T cells HP:0002269 | Abnormality of neuronal migration HP:0005602 | Progressive vitiligo HP:0004322 | Stature below 3rd percentile HP:0000582 | Upslanted palpebral fissure HP:0001873 | Thrombocytopenia HP:0003011 | Abnormality of the musculature HP:0002885 | Medulloblastoma HP:0000126 | Hydronephrosis HP:0002014 | Diarrhea HP:0012191 | B-cell lymphoma HP:0002837 | Recurrent bronchitis HP:0000204 | Cleft upper lip HP:0002028 | Chronic diarrhea HP:0010976 | B lymphocytopenia HP:0000175 | Palatoschisis HP:0003202 | Skeletal muscle atrophy HP:0003220 | Abnormality of chromosome stability HP:0001249 | Mental retardation HP:0000010 | Frequent urinary tract infections HP:0000271 | Abnormality of the face HP:0000265 | Mastoiditis HP:0001878 | Hemolytic anemia HP:0002025 | Anal stenosis HP:0100335 | Non-midline cleft lip HP:0000388 | Otitis media HP:0000252 | Small head circumference HP:0000175 | Cleft palate HP:0002664 | Neoplasm HP:0002665 | Lymphoma HP:0008209 | Premature ovarian failure HP:0000400 | Large ears HP:0002859 | Rhabdomyosarcoma HP:0000252 | Microcephaly HP:0000294 | Low anterior hairline HP:0012190 | T-cell lymphoma HP:0000582 | Upward slanting of palpebral fissures HP:0004798 | Recurrent infection of the gastrointestinal tract HP:0002025 | Narrowing of anal opening HP:0009733 | Glioma HP:0002180 | Neurodegeneration HP:0000448 | Prominent nose HP:0007018 | Attention deficit hyperactivity disorder HP:0000340 | Receding forehead HP:0001873 | Low platelet count HP:0001511 | Prenatal onset growth retardation HP:0001595 | Abnormality of the hair HP:0000278 | Retrognathia HP:0004326 | Cachexia HP:0000426 | Prominent nasal bridge HP:0000246 | Sinus inflammation HP:0011362 | Abnormal hair quantity HP:0001324 | Muscle weakness HP:0000992 | Cutaneous photosensitivity HP:0002878 | Respiratory failure HP:0000364 | Hearing abnormality HP:0000444 | Convex nasal ridge HP:0002488 | Acute leukemia HP:0005425 | Recurrent sinopulmonary infections HP:0000400 | Macrotia HP:0000340 | Sloping forehead HP:0002002 | Deep philtrum HP:0000752 | Hyperactive behavior HP:0002961 | Dysgammaglobulinemia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 58 |
|---|---|
| Disease | nijmegen breakage syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:6) |
| 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:16) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908973 | NA | 4683 | NBN | umls:C0398791 | CLINVAR | NA | 0.495682767 | NA | NBN | 8 | 89964428 | G | A |
| rs121908974 | NA | 4683 | NBN | umls:C0398791 | CLINVAR | NA | 0.495682767 | NA | NBN | 8 | 89958760 | G | T,A |
| rs1805794 | 16214912 | 4683 | NBN | umls:C0398791 | BeFree | Genotyping was conducted for polymorphisms in four genes involved in repair of radiation-induced DNA damage, the double-strand break repair pathway: X-ray cross-complementing group 3 (XRCC3) codon 241 Thr/Met, Nijmegen breakage syndrome 1 (NBS1) codon 185 Glu/Gln, X-ray cross-complementing group 2 (XRCC2) codon 188 Arg/His, and breast cancer susceptibility gene 2 (BRCH2) codon 372 Asn/His. | 0.495682767 | 2005 | NBN | 8 | 89978251 | C | G |
| rs3218536 | 16214912 | 4683 | NBN | umls:C0398791 | BeFree | Genotyping was conducted for polymorphisms in four genes involved in repair of radiation-induced DNA damage, the double-strand break repair pathway: X-ray cross-complementing group 3 (XRCC3) codon 241 Thr/Met, Nijmegen breakage syndrome 1 (NBS1) codon 185 Glu/Gln, X-ray cross-complementing group 2 (XRCC2) codon 188 Arg/His, and breast cancer susceptibility gene 2 (BRCH2) codon 372 Asn/His. | 0.495682767 | 2005 | XRCC2 | 7 | 152648922 | C | T |
| rs34767364 | 17957789 | 4683 | NBN | umls:C0398791 | BeFree | Studies of lymphoblastoid cell lines revealed that NBS1/p95 protein levels were reduced to 70% in cells from a heterozygous breast cancer patient carrying R215W and to 15% in cells from a NBS patient compound heterozygous for 657del5/R215W suggesting that the R215W substitution may be associated with protein instability. | 0.495682767 | 2008 | NBN | 8 | 89971232 | G | C,A |
| rs34767364 | 16033915 | 4683 | NBN | umls:C0398791 | BeFree | Here, we describe for the first time a severe form of NBS without chromosomal instability in monozygotic twin brothers with profound congenital microcephaly and developmental delay who are compound heterozygotes for the 657del5 and 643C>T(R215W) NBS1 mutations. | 0.495682767 | 2006 | NBN | 8 | 89971232 | G | C,A |
| rs34767364 | 24928521 | 4683 | NBN | umls:C0398791 | BeFree | Functional deficiency of NBN, the Nijmegen breakage syndrome protein, in a p.R215W mutant breast cancer cell line. | 0.495682767 | 2014 | NBN | 8 | 89971232 | G | C,A |
| rs34767364 | NA | 4683 | NBN | umls:C0398791 | CLINVAR | NA | 0.495682767 | NA | NBN | 8 | 89971232 | G | C,A |
| rs587776650 | NA | 4683 | NBN | umls:C0398791 | CLINVAR | NA | 0.495682767 | NA | NBN | 8 | 89971214 | TTTGT | - |
| rs587780100 | NA | 4683 | NBN | umls:C0398791 | CLINVAR | NA | 0.495682767 | NA | NBN | 8 | 89971174 | TGTT | - |
| rs61754966 | NA | 4683 | NBN | umls:C0398791 | CLINVAR | NA | 0.495682767 | NA | NBN | 8 | 89978293 | T | C |
| rs762664474 | NA | 4683 | NBN | umls:C0398791 | CLINVAR | NA | 0.495682767 | NA | NBN | 8 | 89981483 | - | TC |
| rs767215758 | NA | 4683 | NBN | umls:C0398791 | CLINVAR | NA | 0.495682767 | NA | NBN | 8 | 89958819 | G | A |
| rs786204181 | NA | 4683 | NBN | umls:C0398791 | CLINVAR | NA | 0.495682767 | NA | NBN | 8 | 89943272 | C | T |
| rs786205135 | NA | 4683 | NBN | umls:C0398791 | CLINVAR | NA | 0.495682767 | NA | NBN | 8 | 89970418 | A | C |
| rs861539 | 16214912 | 4683 | NBN | umls:C0398791 | BeFree | Genotyping was conducted for polymorphisms in four genes involved in repair of radiation-induced DNA damage, the double-strand break repair pathway: X-ray cross-complementing group 3 (XRCC3) codon 241 Thr/Met, Nijmegen breakage syndrome 1 (NBS1) codon 185 Glu/Gln, X-ray cross-complementing group 2 (XRCC2) codon 188 Arg/His, and breast cancer susceptibility gene 2 (BRCH2) codon 372 Asn/His. | 0.495682767 | 2005 | KLC1;XRCC3 | 14 | 103699416 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:39) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000388 | Otitis media | MP:0009873 | abnormal aorta tunica media morphology | any structural anomaly of the middle layer of the aorta wall, containing the smooth muscle layer and elastic fibers |
| HP:0000957 | Cafe-au-lait spot | MP:0002939 | head spot | the appearance of a round area of white fur on the head |
| HP:0005403 | T lymphocytopenia | MP:0008894 | abnormal intraepithelial T cell morphology | any structural anomaly of a T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements |
| 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:0000426 | Prominent nasal bridge | MP:0009903 | abnormal medial nasal prominence morphology | any structural anomaly of the central area of the two limbs of a horseshoe-shaped mesenchymal swelling that lie medial to the olfactory placode or pit in the future nasal region of the embryo; it joins with the ipsilateral maxillary prominence in the form |
| HP:0000453 | Choanal atresia | MP:0009510 | cecal atresia | congenital blockage or absence of the lumen of the cecum |
| HP:0011362 | Abnormal hair quantity | MP:0008861 | abnormal hair shedding | anomaly in the hair cycle changes the timing of the hair loss that normally follows the anagen phase |
| HP:0010976 | B lymphocytopenia | MP:0010229 | increased transitional stage T3 B cell number | greater number of a type of a transitional stage B cell that expresses surface IgM and IgD, and CD62L; it is an anergic B cell that does not proliferate upon BCR signaling, is found in the spleen and lymph nodes, and has the phenotype surface IgM-positive |
| HP:0000492 | Abnormality of the eyelid | MP:0010178 | increased number of Howell-Jolly bodies | abnormal presence of basophilic nuclear remnants of condensed DNA (1 to 2 um in diameter) in circulating erythrocytes, typically seen in severe hemolytic anemias or after splenectomy; these inclusions are normally removed by the spleen but will persist in |
| HP:0000271 | Abnormality of the face | MP:0009889 | persistence of medial edge epithelium during palatal shelf fusion | palatal shelves meet at the midline during development but do not adhere along the medial edge epithelia, and fail to form the midline epithelial seam |
| HP:0000992 | Cutaneous photosensitivity | MP:0001202 | skin photosensitivity | abnormally heightened reactivity of the skin to sunlight |
| HP:0002488 | Acute leukemia | MP:0005481 | increased chronic myelocytic leukemia incidence | higher than normal incidence of a heterogeneous group of myeloproliferative disorders that may evolve into acute leukemia in late stages |
| HP:0000294 | Low anterior hairline | MP:0004784 | abnormal anterior cardinal vein morphology | any structural anomaly of the two paired veins draining the cephalic part of the body |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0001595 | Abnormality of the hair | MP:0008261 | arrest of male meiosis | cessation of the progression of the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell |
| HP:0002028 | Chronic diarrhea | MP:0005036 | diarrhea | abnormally frequent discharge of semi-solid or fluid fecal matter from the bowel |
| HP:0001890 | Autoimmune hemolytic anemia | MP:0001577 | anemia | less than normal levels of red blood cells and/or hemoglobin within red blood cells, or volume of packed red blood cells in the bloodstream, resulting in insufficient oxygenation of tissues and organs |
| HP:0001878 | Hemolytic anemia | MP:0008388 | hypochromic microcytic anemia | hemoglobin deficiency resulting from a reduction in the concentration of hemoglobin in red cells, where the erythrocyte corpuscular volume is smaller than normal |
| HP:0003220 | Abnormality of chromosome stability | MP:0006241 | abnormal placement of pupils | abnormal location of the pupil so that it is not in the center of the iris |
| HP:0000175 | Cleft palate | MP:0013550 | abnormal secondary palate morphology | |
| HP:0002023 | Anal atresia | MP:0006130 | pulmonary valve atresia | congenital closure of the pulmonary valve |
| HP:0003011 | Abnormality of the musculature | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
| HP:0000582 | Upslanted palpebral fissure | MP:0012535 | abnormal optic fissure closure | failure to initiate and/or complete closure of the transient gap in the ventral margin of the developing optic cup; fusion of the optic fissure begins with apposition of the inferior lips of the ventral-most optic cup and continues anteriorly toward its r |
| HP:0006532 | Recurrent pneumonia | MP:0001862 | interstitial pneumonia | any of a group of inflammatory and fibrotic disorders of the lower respiratory tract, primarily affecting the supporting framework of the lung, including the alveolar wall, but may also involve the small airways and blood vessels of the lung parenchyma |
| HP:0007018 | Attention deficit hyperactivity disorder | MP:0001399 | hyperactivity | general restlessness or excessive movement; more frequent movement from one place to another or having an increased state of activity |
| HP:0000010 | Recurrent urinary tract infections | MP:0014044 | absent cardiac outflow tract | absence of or complete failure to form the common arterial trunk that normally forms the aorta and pulmonary artery and the ventricular outflow regions |
| HP:0008209 | Premature ovarian failure | MP:0011125 | decreased primary ovarian follicle number | fewer than normal numbers of the ovarian follicle prior to the appearance of an antrum, normally marked by developmental changes in the primary oocyte and follicular cells so that the latter form one or more layers of cuboidal or columnar cells; the folli |
| HP:0100335 | Non-midline cleft lip | MP:0008797 | facial cleft | a cleft resulting from incomplete merging or fusion of any of the embryonic facial processes that normally unite to form the face |
| 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:0004798 | Recurrent infection of the gastrointestinal tract | MP:0004500 | increased incidence of tumors by ionizing radiation induction | higher than normal frequency of tumor incidence induced by radiation in which the individual particle or photon carries sufficient energy to completely remove an electron from its orbit; common types of this radiation include gamma-rays and X-rays |
| HP:0003202 | Skeletal muscle atrophy | MP:0014068 | abnormal muscle glycogen level | the normal concentration of a readily converted carbohydrate reserve in muscle tissue |
| HP:0000470 | Short neck | MP:0012720 | elongated neck | increased length of the neck |
| HP:0000444 | Convex nasal ridge | MP:0004471 | short nasal bone | reduced length of either of two rectangular bone plates forming the bridge of the nose |
| 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:0000448 | Prominent 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:0002878 | Respiratory failure | MP:0012129 | failure of blastocyst formation | inability to form a blastocyst from a solid ball of cells known as a morula |
| HP:0012191 | B-cell lymphoma | MP:0009317 | increased follicular lymphoma incidence | higher than normal incidence of malignant lymphoma arising from lymphoid follicular B cells which may be small or large |
| HP:0000204 | Cleft upper lip | MP:0005170 | cleft upper lip | defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences |
| HP:0002205 | Recurrent respiratory infections | MP:0014182 | decreased respiratory epithelial sodium ion transmembrane transport | decrease in the directed movement of sodium ions from one side of the respiratory epithelial cell membrane to the other |
Mapped by homologous gene(Total Items:71) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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:0002878 | Respiratory failure | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002028 | Chronic diarrhea | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002664 | Neoplasm | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001595 | Abnormality of the hair | 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:0002859 | Rhabdomyosarcoma | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0000453 | Choanal atresia | 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:0002205 | Recurrent respiratory infections | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001878 | Hemolytic anemia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000388 | Otitis media | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0003202 | Skeletal muscle atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0004326 | Cachexia | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| 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:0005425 | Recurrent sinopulmonary infections | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| 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:0007018 | Attention deficit hyperactivity disorder | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000364 | Hearing abnormality | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003011 | Abnormality of the musculature | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0010976 | B lymphocytopenia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002488 | Acute leukemia | MP:0013886 | increased CD4-negative, CD25-positive NK T cell number | increase in the number of CD4-negative NK T cells expressing the activation marker CD25 |
| HP:0005403 | T lymphocytopenia | MP:0013675 | decreased Ly6C-positive mature NK cell number | reduction in the number of mature NK cells expressing the memory marker Ly6C |
| HP:0000271 | Abnormality of the face | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000992 | Cutaneous photosensitivity | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0000126 | Hydronephrosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002110 | Bronchiectasis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000340 | Sloping forehead | 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:0002023 | Anal atresia | 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:0001268 | Mental deterioration | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000204 | Cleft upper lip | 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:0011362 | Abnormal hair quantity | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000426 | Prominent nasal bridge | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002002 | Deep philtrum | 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:0005280 | Depressed nasal bridge | 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:0002014 | Diarrhea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001873 | Thrombocytopenia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0009733 | Glioma | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000752 | Hyperactivity | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001890 | Autoimmune hemolytic anemia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0006532 | Recurrent pneumonia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000444 | Convex nasal ridge | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000582 | Upslanted palpebral fissure | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0010620 | Malar prominence | MP:0013236 | ovary degeneration | a retrogressive impairment of function or destruction of one or both ovaries |
| HP:0000470 | Short neck | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0012191 | B-cell lymphoma | MP:0014082 | decreased small intestinal villus height | decreased height of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; usually accompanied by crypt elongation or hy |
| HP:0000957 | Cafe-au-lait spot | 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:0003220 | Abnormality of chromosome stability | 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:0002961 | Dysgammaglobulinemia | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| 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:0002665 | Lymphoma | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000246 | Sinusitis | MP:0020186 | altered susceptibility to bacterial infection | a change in the likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria |
| HP:0004798 | Recurrent infection of the gastrointestinal tract | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0000294 | Low anterior hairline | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000265 | Mastoiditis | MP:0013236 | ovary degeneration | a retrogressive impairment of function or destruction of one or both ovaries |
| HP:0000492 | Abnormality of the eyelid | 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:0002025 | Anal stenosis | 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:0002837 | Recurrent bronchitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000400 | Macrotia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0008209 | Premature ovarian failure | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0001480 | Freckling | MP:0013787 | photophobia | abnormal aversion or avoidance behavior in response to light; photophobia is symptom of abnormal intolerance to visual perception of light; as a medical symptom, photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the e |
| HP:0000010 | Recurrent urinary tract infections | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000448 | Prominent nose | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0005602 | Progressive vitiligo | MP:0013236 | ovary degeneration | a retrogressive impairment of function or destruction of one or both ovaries |
| HP:0002885 | Medulloblastoma | MP:0014040 | increased cellular sensitivity to DNA damaging agents | greater incidence of cell death following exposure to agents that cause DNA damage |
| HP:0002180 | Neurodegeneration | MP:0013405 | increased circulating lactate level | greater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase |
| HP:0100335 | Non-midline cleft lip | MP:0014051 | abnormal maxillary-premaxillary suture morphology | any structural anomaly of the line of union of the two portions of the maxilla (pre- and postmaxilla) |
| Disease ID | 58 |
|---|---|
| Disease | nijmegen breakage syndrome |
| Case | (Waiting for update.) |