eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| osteopetrosis | ||||
| Disease ID | 50 |
|---|---|
| Disease | osteopetrosis |
| Definition | Excessive formation of dense trabecular bone leading to pathological fractures; OSTEITIS; SPLENOMEGALY with infarct; ANEMIA; and extramedullary hemopoiesis (HEMATOPOIESIS, EXTRAMEDULLARY). |
| Synonym | albers schoenberg dis albers schoenberg disease albers schonberg disease albers schönberg disease albers-sch?nberg disease albers-scho?nberg syndrome albers-scho@nberg syndrome albers-schoenberg disease albers-schoenberg syndrome albers-schonberg disease albers-schonberg syndrome albers-schoönberg syndrome albers-schönberg disease bone thickening bones disease marble bones thickening congenital osteopetrosis disease, albers-schoenberg disease, albers-schonberg disease, albers-schönberg disease, marble bone ivory bones marble bone marble bone dis marble bone disease marble bones osteopetroses osteopetrosis (disorder) osteopetrosis - congenita type osteopetrosis [ambiguous] osteopetrosis [disease/finding] osteopetrosis [dup] (disorder) osteopetrosis generalisata osteopetrosis, nos osteosclerosis fragilis osteosclerosis fragilis generalisata osteosclerosis fragilis generalisatas osteosclerosis, generalized congenital thicken bone |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0029454 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:17) C0029443 | osteomyelitis | 3 C0035579 | rickets | 3 C0020538 | hypertension | 2 C0020541 | portal hypertension | 2 C0002871 | anemia | 2 C0001126 | renal tubular acidosis | 2 C0018552 | hamartomas | 2 C1619734 | pulmonary arterial hypertension | 1 C0029456 | osteoporosis | 1 C0023418 | leukaemia | 1 C0030312 | bone marrow failure | 1 C0029408 | osteoarthritis | 1 C0006285 | bronchopneumonia | 1 C0023470 | myeloid leukaemia | 1 C0013575 | ectodermal dysplasia | 1 C0023467 | acute myeloid leukaemia | 1 C0029124 | optic nerve atrophy | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:13) 3690 | ITGB3 | GHR 4286 | MITF | UniProtKB-KW 4041 | LRP5 | UniProtKB-KW 8517 | IKBKG | UniProtKB-KW;GHR 28962 | OSTM1 | UniProtKB-KW;GHR 83706 | FERMT3 | CTD_human 8792 | TNFRSF11A | UniProtKB-KW;GHR 8600 | TNFSF11 | CTD_human;UniProtKB-KW;GHR 10312 | TCIRG1 | UniProtKB-KW;GHR 1186 | CLCN7 | CTD_human;UniProtKB-KW;GHR 9842 | PLEKHM1 | UniProtKB-KW;GHR 760 | CA2 | UniProtKB-KW;GHR 29887 | SNX10 | UniProtKB-KW |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:87) 65985 | AACS | 1.57 | DISEASES 84890 | ADO | 5.02 | DISEASES 10189 | ALYREF | 2.296 | DISEASES 265 | AMELX | 2.017 | DISEASES 401138 | AMTN | 2.274 | DISEASES 310 | ANXA7 | 1.605 | DISEASES 9138 | ARHGEF1 | 1.219 | DISEASES 537 | ATP6AP1 | 1.759 | DISEASES 23545 | ATP6V0A2 | 5.512 | DISEASES 527 | ATP6V0C | 3.046 | DISEASES 632 | BGLAP | 3.793 | DISEASES 650 | BMP2 | 1.534 | DISEASES 7809 | BSND | 1.953 | DISEASES 722 | C4BPA | 1.146 | DISEASES 23632 | CA14 | 1.455 | DISEASES 796 | CALCA | 2.828 | DISEASES 799 | CALCR | 1.375 | DISEASES 875 | CBS | 1.545 | DISEASES 645811 | CCDC154 | 3.839 | DISEASES 1183 | CLCN4 | 4.121 | DISEASES 1184 | CLCN5 | 3.147 | DISEASES 1186 | CLCN7 | 7.416 | DISEASES 1187 | CLCNKA | 1.7 | DISEASES 10491 | CRTAP | 1.307 | DISEASES 1435 | CSF1 | 5.611 | DISEASES 1520 | CTSS | 1.147 | DISEASES 245908 | DEFB105A | 2.069 | DISEASES 504180 | DEFB105B | 2.069 | DISEASES 1758 | DMP1 | 1.71 | DISEASES 128178 | EDARADD | 1.582 | DISEASES 30816 | ERVW-1 | 1.848 | DISEASES 2135 | EXTL2 | 2.084 | DISEASES 10979 | FERMT2 | 2.259 | DISEASES 2261 | FGFR3 | 1.045 | DISEASES 2534 | FYN | 1.902 | DISEASES 9846 | GAB2 | 1.712 | DISEASES 2550 | GABBR1 | 2.154 | DISEASES 2624 | GATA2 | 1.11 | DISEASES 115361 | GBP4 | 2.039 | DISEASES 2638 | GC | 2.173 | DISEASES 8833 | GMPS | 1.101 | DISEASES 10457 | GPNMB | 1.744 | DISEASES 51527 | GSKIP | 2.414 | DISEASES 8517 | IKBKG | 3.519 | DISEASES 3725 | JUN | 1.347 | DISEASES 9365 | KL | 1.39 | DISEASES 79705 | LRRK1 | 3.487 | DISEASES 142678 | MIB2 | 1.944 | DISEASES 4487 | MSX1 | 2.108 | DISEASES 81565 | NDEL1 | 1.24 | DISEASES 4772 | NFATC1 | 3.987 | DISEASES 4791 | NFKB2 | 2.818 | DISEASES 54959 | ODAM | 1.787 | DISEASES 126014 | OSCAR | 2.895 | DISEASES 9842 | PLEKHM1 | 5.632 | DISEASES 639 | PRDM1 | 1.29 | DISEASES 5745 | PTH1R | 2.273 | DISEASES 5744 | PTHLH | 1.997 | DISEASES 2185 | PTK2B | 2.615 | DISEASES 3516 | RBPJ | 1.583 | DISEASES 6001 | RGS10 | 2.849 | DISEASES 6136 | RPL12 | 2.349 | DISEASES 91582 | RPS19BP1 | 3.148 | DISEASES 860 | RUNX2 | 2.497 | DISEASES 795 | S100G | 1.168 | DISEASES 9294 | S1PR2 | 1.807 | DISEASES 5270 | SERPINE2 | 1.652 | DISEASES 6452 | SH3BP2 | 1.132 | DISEASES 284266 | SIGLEC15 | 3.522 | DISEASES 65010 | SLC26A6 | 1.33 | DISEASES 6522 | SLC4A2 | 3.782 | DISEASES 8671 | SLC4A4 | 2.031 | DISEASES 9351 | SLC9A3R2 | 1.749 | DISEASES 23315 | SLC9A8 | 2.065 | DISEASES 133308 | SLC9B2 | 2.284 | DISEASES 29887 | SNX10 | 5.297 | DISEASES 6696 | SPP1 | 2.085 | DISEASES 6714 | SRC | 4.029 | DISEASES 7124 | TNF | 2.153 | DISEASES 8792 | TNFRSF11A | 4.311 | DISEASES 7189 | TRAF6 | 3.166 | DISEASES 7405 | UVRAG | 1.364 | DISEASES 10451 | VAV3 | 1.071 | DISEASES 7421 | VDR | 1.277 | DISEASES 7453 | WARS | 1.375 | DISEASES 7525 | YES1 | 1.111 | DISEASES 7784 | ZP3 | 1.234 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 50 |
|---|---|
| Disease | osteopetrosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:49) HP:0000639 | Nystagmus HP:0004576 | Sclerotic vertebral endplates HP:0000670 | Carious teeth HP:0100734 | Abnormality of vertebral epiphysis morphology HP:0002653 | Bone pain HP:0003103 | Abnormal cortical bone morphology HP:0000365 | Hearing impairment HP:0000978 | Bruising susceptibility HP:0000929 | Abnormality of the skull HP:0005930 | Abnormality of epiphysis morphology HP:0000967 | Petechiae HP:0002716 | Lymphadenopathy HP:0005528 | Bone marrow hypocellularity HP:0001873 | Thrombocytopenia HP:0000303 | Mandibular prognathia HP:0000532 | Chorioretinal abnormality HP:0001291 | Abnormality of the cranial nerves HP:0009830 | Peripheral neuropathy HP:0000164 | Abnormality of the teeth HP:0000772 | Abnormality of the ribs HP:0005106 | Abnormality of the vertebral endplates HP:0001510 | Growth delay HP:0004618 | Sandwich appearance of vertebral bodies HP:0000925 | Abnormality of the vertebral column HP:0002754 | Osteomyelitis HP:0006335 | Persistence of primary teeth HP:0011001 | Increased bone mineral density HP:0000256 | Macrocephaly HP:0002901 | Hypocalcemia HP:0002757 | Recurrent fractures HP:0001641 | Abnormality of the pulmonary valve HP:0002758 | Osteoarthritis HP:0001945 | Fever HP:0001947 | Renal tubular acidosis HP:0011002 | Osteopetrosis HP:0002857 | Genu valgum HP:0001249 | Intellectual disability HP:0001744 | Splenomegaly HP:0001974 | Leukocytosis HP:0001363 | Craniosynostosis HP:0009106 | Abnormal pelvis bone ossification HP:0000504 | Abnormality of vision HP:0002721 | Immunodeficiency HP:0010535 | Sleep apnea HP:0000765 | Abnormality of the thorax HP:0006824 | Cranial nerve paralysis HP:0004349 | Reduced bone mineral density HP:0002148 | Hypophosphatemia HP:0000940 | Abnormal diaphysis morphology |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:21) HP:0001947 | Renal tubular acidosis | 3 HP:0002748 | Rickets | 3 HP:0001941 | acidemia | 3 HP:0002754 | Bone infection | 2 HP:0004322 | Stature below 3rd percentile | 2 HP:0001903 | Anemia | 2 HP:0001409 | Portal hypertension | 2 HP:0001978 | Extramedullary hematopoiesis | 2 HP:0001433 | Enlarged liver and spleen | 2 HP:0000505 | Poor vision | 1 HP:0000968 | Ectodermal dysplasia | 1 HP:0007099 | Arnold Chiari type I malformation | 1 HP:0002757 | Multiple fractures | 1 HP:0000924 | Abnormality of the skeletal system | 1 HP:0002758 | Osteoarthritis | 1 HP:0005086 | Knee osteoarthritis | 1 HP:0000939 | Osteoporosis | 1 HP:0001029 | Poikiloderma | 1 HP:0000648 | Optic-nerve degeneration | 1 HP:0000822 | Hypertension | 1 HP:0005528 | Bone marrow hypoplasia | 1 |
| Disease ID | 50 |
|---|---|
| Disease | osteopetrosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:37) C2697391 | rheumatoid arthritis C2632116 | stenosis C2613439 | extramedullary hematopoiesis C2364133 | infection C1335944 | sensory manifestations C1290708 | mandibular osteomyelitis C0553669 | nonregenerative anemia C0521694 | retinal atrophy C0520679 | obstructive sleep apnea C0456909 | loss of vision C0455988 | non-immune hydrops fetalis C0270680 | brain stem compression C0235522 | venous disease C0149887 | slipped capital femoral epiphysis C0085078 | lysosomal storage disease C0079774 | peripheral t-cell lymphoma C0040034 | thrombocytopenia C0038018 | spondylolysis C0035579 | rickets C0029443 | osteomyelitis C0029410 | osteoarthritis of the hip C0029410 | hip osteoarthritis C0029410 | coxarthrosis C0029408 | osteoarthritis C0029408 | degenerative osteoarthritis C0024305 | non-hodgkin's lymphoma C0020541 | portal hypertension C0019080 | hemorrhage C0018777 | conductive hearing loss C0015469 | facial paralysis C0015469 | facial palsy C0014544 | epilepsy C0008707 | chronic osteomyelitis C0007815 | cerebrospinal rhinorrhoea C0003881 | arthrodesis C0002878 | haemolytic anaemia C0002871 | anaemia |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:6) C0035579 | rickets | 3 C0029443 | osteomyelitis | 2 C0018952 | extramedullary hematopoiesis | 2 C0020541 | portal hypertension | 2 C0149887 | slipped capital femoral epiphysis | 1 C0029408 | osteoarthritis | 1 |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| CLCN7 | c.2250G>T, p.Q750H | doi:10.1038/gim.2015.129 | Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:6) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908673 | 16251418 | 4041 | LRP5 | umls:C0029454 | BeFree | Osteoclasts from patients with autosomal dominant osteopetrosis type I caused by a T253I mutation in low-density lipoprotein receptor-related protein 5 are normal in vitro, but have decreased resorption capacity in vivo. | 0.00408156 | 2005 | LRP5 | 11 | 68363818 | C | T |
| rs139329533 | 22419446 | 1186 | CLCN7 | umls:C0029454 | BeFree | Long-term survival in infantile malignant autosomal recessive osteopetrosis secondary to homozygous p.Arg526Gln mutation in CLCN7. | 0.146118009 | 2012 | CLCN7 | 16 | 1450537 | C | T |
| rs387907576 | 23296056 | 1186 | CLCN7 | umls:C0029454 | BeFree | Collectively, our data further indicated that mutation (Y99C) may be a cause of osteopetrosis, and highlights the use of whole exome sequencing as a valuable approach to identifying disease mutations in a cost and time efficient manner. | 0.146118009 | 2013 | CLCN7 | 16 | 1461460 | T | C |
| rs397515539 | 15111300 | 1186 | CLCN7 | umls:C0029454 | BeFree | Characterization of osteoclasts from patients harboring a G215R mutation in ClC-7 causing autosomal dominant osteopetrosis type II. | 0.146118009 | 2004 | CLCN7 | 16 | 1459139 | C | T |
| rs397515539 | 20830208 | 1186 | CLCN7 | umls:C0029454 | BeFree | It is suggested that the scenario found in the CHO model system also applies to the human transporter and that mislocalization rather than impaired functionality of G215R ClC-7 is the primary cause of the related autosomal dominant osteopetrosis type II. | 0.146118009 | 2010 | CLCN7 | 16 | 1459139 | C | T |
| rs397515539 | 19543743 | 1186 | CLCN7 | umls:C0029454 | BeFree | Characteristics of ClC7 Cl- channels and their inhibition in mutant (G215R) associated with autosomal dominant osteopetrosis type II in native osteoclasts and hClcn7 gene-expressing cells. | 0.146118009 | 2009 | CLCN7 | 16 | 1459139 | 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:22) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000670 | Carious teeth | MP:0004033 | supernumerary teeth | occurrence of more than the usual number of teeth |
| HP:0100734 | Abnormality of vertebral epiphysis morphology | 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:0005930 | Abnormality of epiphysis morphology | MP:0013621 | decreased internal diameter of femur | reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP: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:0001947 | Renal tubular acidosis | MP:0004154 | renal tubular necrosis | morphological changes resulting from pathological death of renal tubular tissue; usually due to irreversible damage |
| HP:0004618 | Sandwich appearance of vertebral bodies | MP:0013621 | decreased internal diameter of femur | reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0006824 | Cranial nerve paralysis | MP:0006303 | abnormal retinal nerve fiber layer morphology | any structural anomaly of the layer of the retina formed by expansion of the fibers of the optic nerve |
| HP:0005106 | Abnormality of the vertebral endplates | MP:0005060 | accumulation of giant lysosomes in kidney/renal tubule cells | buildup of contents in lysosomes in cells of the kidney tubules |
| HP:0005528 | Bone marrow hypocellularity | MP:0013414 | decreased myeloid cell number in bone marrow | reduction in the number of CD45+ CD11b+ GR1- myeloid cells in the bone marrow |
| HP:0009106 | Abnormal pelvis bone ossification | MP:0003055 | abnormal long bone epiphyseal plate morphology | any structural anomaly of the cartilaginous center of ossification located at one or both ends of bones between the epiphysis (end) and the diaphysis (shaft) of long bones; longitudinal growth of the bone occurs at the plate during development in children |
| HP:0003103 | Abnormal cortical bone morphology | MP:0013640 | increased bone stiffness | increase in material stiffness (N/mm) during elastic deformation |
| HP:0006335 | Persistence of primary teeth | MP:0013621 | decreased internal diameter of femur | reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0001641 | Abnormality of the pulmonary valve | MP:0010465 | aberrant origin of the right subclavian artery | the right subclavian artery arises from an atypical location on the aortic arch or the proximal descending aorta |
| HP:0000925 | Abnormality of the vertebral column | MP:0009005 | abnormal sesamoid bone of gastrocnemius morphology | any structural anomaly of the small sesamoid bones situated behind the condyles of the femur |
| HP:0000504 | Abnormality of vision | MP:0012528 | abnormal zone of polarizing activity morphology | any structural anomaly of the subset of cells found in the posterior mesenchyme region of the vertebrate limb bud; Sonic hedgehog (Shh) produced by ZPA represents the key mediator of the polarizing activity that regulates patterning of the limb along the |
| HP:0000978 | Bruising susceptibility | MP:0005596 | increased susceptibility to type I hypersensitivity reaction | greater likelihood of developing a response manifested by localized or generalized reaction that occurs immediately (minutes) after exposure to an antigen to which the person/animal was previously sensitized; it is IgE-mediated, and mast cell activation a |
| HP:0002757 | Recurrent fractures | MP:0004675 | rib fractures | a crack or break in the bones forming the bony wall of the chest |
| HP:0001291 | Abnormality of the cranial nerves | MP:0008156 | decreased diameter of tibia | reduced width of the cross-sectional distance that extends from one lateral edge of the tibia, through its center and to the opposite lateral edge |
| HP:0000765 | Abnormality of the thorax | MP:0013620 | increased internal diameter of femur | increased cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0004349 | Reduced bone mineral density | MP:0013630 | increased bone trabecular spacing | increase in the amount of space between trabeculae in cancellous bone |
| HP:0011001 | Increased bone mineral density | MP:0013630 | increased bone trabecular spacing | increase in the amount of space between trabeculae in cancellous bone |
| HP:0000164 | Abnormality of the teeth | MP:0010382 | abnormal dosage compensation, by inactivation of X chromosome | anomaly in the process of compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex |
Mapped by homologous gene(Total Items:49) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002754 | Osteomyelitis | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0001945 | Fever | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0011002 | Osteopetrosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002653 | Bone pain | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005930 | Abnormality of epiphysis morphology | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0004576 | Sclerotic vertebral endplates | 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:0002758 | Osteoarthritis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000164 | Abnormality of the teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000303 | Mandibular prognathia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000978 | Bruising susceptibility | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0009830 | Peripheral neuropathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003103 | Abnormal cortical bone morphology | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006335 | Persistence of primary teeth | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0005106 | Abnormality of the vertebral endplates | MP:0011747 | myelofibrosis | appearance of fibrous connective tissue in the bone marrow, often resulting from inflammation or injury; especially replacement of the marrow with collagenous connective tissue fibers, frequently accompanied by splenomegaly and anemia or cytopenias |
| HP:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000925 | Abnormality of the vertebral column | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000940 | Abnormal diaphysis morphology | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000772 | Abnormality of the ribs | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001363 | Craniosynostosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002721 | Immunodeficiency | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001510 | Growth delay | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000929 | Abnormality of the skull | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0002857 | Genu valgum | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002901 | Hypocalcemia | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0001873 | Thrombocytopenia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000765 | Abnormality of the thorax | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000967 | Petechiae | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000670 | Carious teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002757 | Recurrent fractures | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000532 | Chorioretinal abnormality | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001291 | Abnormality of the cranial nerves | MP:0013906 | absent embryonic telencephalon | absence of the paired diverticula of the embryonic telencephalon, from which the forebrain develops |
| HP:0002148 | Hypophosphatemia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0009106 | Abnormal pelvis bone ossification | MP:0013178 | tail necrosis | morphological changes resulting from pathological death of tail tissue; usually due to irreversible damage |
| 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:0004618 | Sandwich appearance of vertebral bodies | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0001947 | Renal tubular acidosis | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0000504 | Abnormality of vision | MP:0013545 | cleft hard palate | cleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones |
| HP:0000256 | Macrocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001974 | Leukocytosis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0004349 | Reduced bone mineral density | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002716 | Lymphadenopathy | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0001641 | Abnormality of the pulmonary valve | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0010535 | Sleep apnea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0005528 | Bone marrow hypocellularity | MP:0014040 | increased cellular sensitivity to DNA damaging agents | greater incidence of cell death following exposure to agents that cause DNA damage |
| HP:0100734 | Abnormality of vertebral epiphysis morphology | 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:0006824 | Cranial nerve paralysis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 50 |
|---|---|
| Disease | osteopetrosis |
| Case | (Waiting for update.) |