eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| dyskeratosis congenita | ||||
| Disease ID | 51 |
|---|---|
| Disease | dyskeratosis congenita |
| Definition | A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. Oral and dental abnormalities may also be present. Complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. (from Int J Paediatr Dent 2000 Dec;10(4):328-34) The X-linked form is also known as Zinsser-Cole-Engman syndrome and involves the gene which encodes a highly conserved protein called dyskerin. |
| Synonym | cole-engmann-zinsser syndrome congenita dyskeratosis congenital dyskeratosis dkc dkc - dyskeratosis congenita dyskeratosis congenita (disorder) dyskeratosis congenita [disease/finding] dyskeratosis congenita syndrome dyskeratosis congenital zinsser-cole-engman syndrome zinsser-cole-engmann syndrome zinsser-engman-cole syndrome |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0265965 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:14) C0034069 | pulmonary fibrosis | 5 C0206062 | interstitial lung disease | 2 C0024115 | lung disease | 1 C0020541 | portal hypertension | 1 C0002453 | amenorrhea | 1 C0152026 | retinal vasculitis | 1 C0009319 | colitis | 1 C0042384 | vasculitis | 1 C0020538 | hypertension | 1 C0003857 | arteriovenous malformation | 1 C0345907 | hepatic angiosarcoma | 1 C0007137 | squamous cell carcinoma | 1 C0027947 | neutropenia | 1 C0030312 | bone marrow failure | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:15) 5073 | PARN | CLINVAR;ORPHANET;UniProtKB-KW 1736 | DKC1 | CTD_human;GHR;ORPHANET;UNIPROT;UniProtKB-KW 7015 | TERT | CTD_human;GHR;ORPHANET;UNIPROT;UniProtKB-KW 55651 | NHP2 | GHR;ORPHANET;UNIPROT;UniProtKB-KW 10058 | ABCB6 | UniProtKB-KW 7012 | TERC | CTD_human;ORPHANET 51750 | RTEL1 | ORPHANET;GHR;UniProtKB-KW 26277 | TINF2 | CTD_human;GHR;ORPHANET;UNIPROT;UniProtKB-KW 65057 | ACD | UniProtKB-KW 55135 | WRAP53 | ORPHANET;GHR;UniProtKB-KW 64858 | DCLRE1B | UniProtKB-KW 80169 | CTC1 | ORPHANET;GHR 79650 | USB1 | ORPHANET 55505 | NOP10 | GHR;ORPHANET;UNIPROT;UniProtKB-KW 54433 | GAR1 | CTD_human |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:54) 65057 | ACD | 3.191 | DISEASES 22852 | ANKRD26 | 1.832 | DISEASES 53335 | BCL11A | 1.114 | DISEASES 11335 | CBX3 | 1.799 | DISEASES 1237 | CCR8 | 1.319 | DISEASES 1050 | CEBPA | 2.51 | DISEASES 1369 | CPN1 | 1.11 | DISEASES 64858 | DCLRE1B | 1.054 | DISEASES 167227 | DCP2 | 2.997 | DISEASES 1663 | DDX11 | 2.185 | DISEASES 1736 | DKC1 | 8.381 | DISEASES 79813 | EHMT1 | 1.66 | DISEASES 56943 | ENY2 | 2.563 | DISEASES 5394 | EXOSC10 | 1.029 | DISEASES 2187 | FANCB | 2.468 | DISEASES 2242 | FES | 1.301 | DISEASES 122786 | FRMD6 | 1.759 | DISEASES 2556 | GABRA3 | 2.177 | DISEASES 2623 | GATA1 | 1.264 | DISEASES 2624 | GATA2 | 2.9 | DISEASES 3047 | HBG1 | 1.289 | DISEASES 3048 | HBG2 | 2.105 | DISEASES 10767 | HBS1L | 1.578 | DISEASES 3981 | LIG4 | 2.42 | DISEASES 57819 | LSM2 | 2.773 | DISEASES 51360 | MBTPS2 | 1.656 | DISEASES 4352 | MPL | 2.901 | DISEASES 4513 | MT-CO2 | 1.174 | DISEASES 4548 | MTR | 3.01 | DISEASES 55505 | NOP10 | 6.761 | DISEASES 8481 | OFD1 | 1.755 | DISEASES 64282 | PAPD5 | 3.516 | DISEASES 5073 | PARN | 5.116 | DISEASES 5143 | PDE4C | 2.525 | DISEASES 25913 | POT1 | 2.267 | DISEASES 56978 | PRDM8 | 3.038 | DISEASES 442865 | PRYP3 | 1.845 | DISEASES 5688 | PSMA7 | 1.004 | DISEASES 80324 | PUS1 | 2.32 | DISEASES 54517 | PUS7 | 3.948 | DISEASES 5985 | RFC5 | 2.836 | DISEASES 56963 | RGMA | 1.224 | DISEASES 6023 | RMRP | 1.561 | DISEASES 6229 | RPS24 | 1.695 | DISEASES 51750 | RTEL1 | 5.151 | DISEASES 10856 | RUVBL2 | 1.936 | DISEASES 677776 | SCARNA8 | 4.401 | DISEASES 677817 | SNORA36A | 4.401 | DISEASES 6731 | SRP72 | 3.132 | DISEASES 100134934 | TEN1 | 2.961 | DISEASES 7012 | TERC | 7.044 | DISEASES 26995 | TRUB2 | 4.046 | DISEASES 55135 | WRAP53 | 4.854 | DISEASES 7499 | XG | 2.11 | DISEASES |
| Locus | Symbol | Locus(Total Locus:11) |
| Disease ID | 51 |
|---|---|
| Disease | dyskeratosis congenita |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:62) HP:0002216 | Premature graying of hair HP:0001263 | Global developmental delay HP:0000670 | Carious teeth HP:0012733 | Macule HP:0008404 | Nail dystrophy HP:0000518 | Cataract HP:0004322 | Short stature HP:0000365 | Hearing impairment HP:0100585 | Telangiectasia of the skin HP:0002575 | Tracheoesophageal fistula HP:0000600 | Abnormality of the pharynx HP:0200037 | Skin vesicle HP:0012732 | Anorectal anomaly HP:0002205 | Recurrent respiratory infections HP:0005528 | Bone marrow hypocellularity HP:0001873 | Thrombocytopenia HP:0005374 | Cellular immunodeficiency HP:0008661 | Urethral stenosis HP:0000704 | Periodontitis HP:0001053 | Hypopigmented skin patches HP:0002745 | Oral leukoplakia HP:0001874 | Abnormality of neutrophils HP:0000668 | Hypodontia HP:0000164 | Abnormality of the teeth HP:0200042 | Skin ulcer HP:0001511 | Intrauterine growth retardation HP:0000008 | Abnormality of female internal genitalia HP:0008066 | Abnormal blistering of the skin HP:0000982 | Palmoplantar keratoderma HP:0001903 | Anemia HP:0002024 | Malabsorption HP:0010450 | Esophageal stenosis HP:0000975 | Hyperhidrosis HP:0002664 | Neoplasm HP:0002665 | Lymphoma HP:0001399 | Hepatic failure HP:0100627 | Displacement of the external urethral meatus HP:0000327 | Hypoplasia of the maxilla HP:0002650 | Scoliosis HP:0002757 | Recurrent fractures HP:0000939 | Osteoporosis HP:0000498 | Blepharitis HP:0002514 | Cerebral calcification HP:0008070 | Sparse hair HP:0002240 | Hepatomegaly HP:0000679 | Taurodontia HP:0001744 | Splenomegaly HP:0010624 | Aplastic/hypoplastic toenail HP:0001394 | Cirrhosis HP:0001596 | Alopecia HP:0002894 | Neoplasm of the pancreas HP:0001928 | Abnormality of coagulation HP:0011364 | White hair HP:0000819 | Diabetes mellitus HP:0000499 | Abnormality of the eyelashes HP:0001034 | Hypermelanotic macule HP:0010885 | Aseptic necrosis HP:0008065 | Aplasia/Hypoplasia of the skin HP:0001231 | Abnormality of the fingernails HP:0100670 | Rough bone trabeculation HP:0000534 | Abnormality of the eyebrow HP:0000035 | Abnormality of the testis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:16) HP:0002206 | Pulmonary fibrosis | 5 HP:0006530 | Interstitial lung disease | 2 HP:0001875 | Neutropenia | 1 HP:0002583 | Colitis | 1 HP:0200058 | Angiosarcoma | 1 HP:0006548 | Pulmonary av malformation | 1 HP:0001409 | Portal hypertension | 1 HP:0030731 | Carcinoma | 1 HP:0000786 | Primary amenorrhea | 1 HP:0005528 | Bone marrow hypoplasia | 1 HP:0100026 | Arteriovenous malformation | 1 HP:0000822 | Hypertension | 1 HP:0012721 | Venous malformations | 1 HP:0002860 | Squamous cell carcinoma | 1 HP:0002633 | Vasculitis | 1 HP:0000141 | Abnormal absence of menstruation | 1 |
| Disease ID | 51 |
|---|---|
| Disease | dyskeratosis congenita |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:14) C2700513 | aplastic anemia C2364133 | infection C1555769 | pulmonary disease C0870082 | hyperkeratosis C0748159 | pulmonary involvement C0221260 | nail dystrophy C0178879 | urinary tract obstruction C0032305 | pneumocystis carinii pneumonia C0030312 | pancytopenia C0030312 | bone marrow failure C0029166 | oral manifestations C0027947 | neutropenia C0021051 | immunodeficiency C0002874 | aplastic anaemia |
| 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:6) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121912288 | 12513020 | 1736 | DKC1 | umls:C0265965 | BeFree | Only his mother's DNA was available for mutation analysis, which revealed a nucleotide transition of C to T (1058 C --> T), a hotspot mutation in DKC, resulting in an amino acid change from alanine to valine (A353V) in the DKC1 gene. | 0.262036449 | 2002 | DKC1;SNORA56 | X | 154773152 | C | T |
| rs121912288 | 22855157 | 1736 | DKC1 | umls:C0265965 | BeFree | Defects in mTR stability and telomerase activity produced by the Dkc1 A353V mutation in dyskeratosis congenita are rescued by a peptide from the dyskerin TruB domain. | 0.262036449 | 2012 | DKC1;SNORA56 | X | 154773152 | C | T |
| rs756132866 | NA | 5073 | PARN | umls:C0265965 | CLINVAR | NA | 0.240542884 | NA | PARN | 16 | 14593300 | C | A |
| rs759131762 | NA | 5073 | PARN | umls:C0265965 | CLINVAR | NA | 0.240542884 | NA | PARN | 16 | 14608274 | TACT | - |
| rs786200999 | NA | 5073 | PARN | umls:C0265965 | CLINVAR | NA | 0.240542884 | NA | PARN | 16 | 14582225 | G | A |
| rs786201001 | NA | 5073 | PARN | umls:C0265965 | CLINVAR | NA | 0.240542884 | NA | PARN | 16 | 14593355 | - | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:30) | ||||
|---|---|---|---|---|
| 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:0008066 | Abnormal blistering of the skin | 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:0010885 | Aseptic necrosis | MP:0001654 | hepatic necrosis | morphological changes resulting from pathological death of liver tissue; usually due to irreversible damage |
| 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:0000600 | Abnormality of the pharynx | MP:0010732 | abnormal node of Ranvier morphology | any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon |
| HP:0001874 | Abnormality of neutrophils | 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:0008070 | Sparse hair | MP:0010202 | focal dorsal hair loss | focal hair loss on the dorsal area of a rodent resulting in dorsal skin visible in a patch where hair loss occurs |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0011364 | White hair | MP:0004382 | abnormal hair follicle melanogenesis | failure of or anomaly in the biosynthetic pathway of melanin formation in hair follicles |
| HP:0001928 | Abnormality of coagulation | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0002575 | Tracheoesophageal fistula | MP:0003321 | tracheoesophageal fistula | an abnormal passage is present between the esophagus and the trachea; may be acquired or congenital, and is often associated with esophageal atresia |
| HP:0000008 | Abnormality of female internal genitalia | MP:0009403 | increased variability of skeletal muscle fiber size | greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls |
| HP:0002894 | Neoplasm of the pancreas | 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:0002757 | Recurrent fractures | MP:0004675 | rib fractures | a crack or break in the bones forming the bony wall of the chest |
| HP:0000499 | Abnormality of the eyelashes | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0100627 | Displacement of the external urethral meatus | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0000534 | Abnormality of the eyebrow | MP:0010732 | abnormal node of Ranvier morphology | any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon |
| HP:0008065 | Aplasia/Hypoplasia of the skin | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0001231 | Abnormality of the fingernails | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0001053 | Hypopigmented skin patches | MP:0004947 | skin inflammation | local accumulation of fluid, plasma proteins, and leukocytes in the skin |
| HP:0000327 | Hypoplasia of the maxilla | 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:0000035 | Abnormality of the testis | 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 |
| 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:0002216 | Premature graying of hair | 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:0002745 | Oral leukoplakia | MP:0003751 | oral leukoplakia | white patchy lesions of the mucous membranes of the oral cavity; often considered a precancerous condition |
| 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 |
| HP:0100670 | Rough bone trabeculation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001399 | Hepatic failure | MP:0006138 | congestive heart failure | cardiac output is insufficient to supply blood throughout the body, resulting in the accumulation of fluid in the lungs and other body tissues; it is related mainly to salt and water retention in the tissues rather than directly to reduced blood flow; blo |
| 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 |
| 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:59) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000327 | Hypoplasia of the maxilla | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0100627 | Displacement of the external urethral meatus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002664 | Neoplasm | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| 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:0001399 | Hepatic failure | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0000982 | Palmoplantar keratoderma | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0010624 | Aplastic/hypoplastic toenail | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP: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:0000600 | Abnormality of the pharynx | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002216 | Premature graying of hair | 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:0000008 | Abnormality of female internal genitalia | 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:0001903 | Anemia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002024 | Malabsorption | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0008404 | Nail dystrophy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000518 | Cataract | 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: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:0000819 | Diabetes mellitus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001231 | Abnormality of the fingernails | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000939 | Osteoporosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0008066 | Abnormal blistering of the skin | 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:0001873 | Thrombocytopenia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000679 | Taurodontia | MP:0014124 | increased amylin secretion | greater than normal production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiet |
| HP:0011364 | White hair | MP:0012144 | decreased b wave amplitude | reduction in the size (height or maximum displacement) of the b wave as measured in the electroretinogram |
| HP:0000670 | Carious teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0200037 | Skin vesicle | MP:0011094 | embryonic lethality before implantation, complete penetrance | death of all organisms of a given genotype in a population between fertilization and implantation (Mus: E0 to less than E4.5) |
| HP:0002894 | Neoplasm of the pancreas | MP:0014126 | increased mammary gland apoptosis | increase in the number of any cells of a mammary gland undergoing programmed cell death |
| HP:0002757 | Recurrent fractures | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0010885 | Aseptic necrosis | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0000035 | Abnormality of the testis | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0000975 | Hyperhidrosis | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0001263 | Global developmental delay | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001053 | Hypopigmented skin patches | 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:0008661 | Urethral stenosis | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0005374 | Cellular immunodeficiency | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0200042 | Skin ulcer | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002665 | Lymphoma | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002575 | Tracheoesophageal fistula | 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:0002514 | Cerebral calcification | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002745 | Oral leukoplakia | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0001394 | Cirrhosis | 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:0008070 | Sparse hair | 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:0008065 | Aplasia/Hypoplasia of the skin | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0000704 | Periodontitis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000668 | Hypodontia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001874 | Abnormality of neutrophils | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001928 | Abnormality of coagulation | 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:0000499 | Abnormality of the eyelashes | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001034 | Hypermelanotic macule | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| 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:0100670 | Rough bone trabeculation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000534 | Abnormality of the eyebrow | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000498 | Blepharitis | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0001596 | Alopecia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| Disease ID | 51 |
|---|---|
| Disease | dyskeratosis congenita |
| Case | (Waiting for update.) |