eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| cockayne syndrome | ||||
| Disease ID | 467 |
|---|---|
| Disease | cockayne syndrome |
| Definition | A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms. |
| Synonym | cockayne syndrome (disorder) cockayne syndrome [disease/finding] cockayne's syndrome cockaynes syndrome cokayne syndrome dwarfism-retinal atrophy-deafness syndrome mulvihill smith syndrome neill-dingwall syndrome progeria like syndrome progeria-like syndrome progeria-like syndromes progeroid nanism progeroid syndrome syndrome cockayne syndrome, cockayne syndrome, progeria-like |
| Orphanet | |
| DOID | |
| UMLS | C0009207 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:11) C0024796 | marfan syndrome | 1 C0221032 | generalized lipodystrophy | 1 C0029456 | osteoporosis | 1 C0033300 | progeria | 1 C0011847 | diabetes | 1 C0023787 | lipodystrophy | 1 C0003635 | apraxia | 1 C1848954 | generalized dystonia | 1 C0743098 | dermopathy | 1 C0013421 | dystonia | 1 C0008370 | cholestasis | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:6) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:102) 60 | ACTB | 1.317 | DISEASES 100 | ADA | 1.302 | DISEASES 353 | APRT | 1.252 | DISEASES 54840 | APTX | 2.289 | DISEASES 467 | ATF3 | 1.576 | DISEASES 545 | ATR | 2.17 | DISEASES 546 | ATRX | 2.008 | DISEASES 11177 | BAZ1A | 2.724 | DISEASES 641 | BLM | 2.742 | DISEASES 672 | BRCA1 | 1.82 | DISEASES 675 | BRCA2 | 1.094 | DISEASES 9184 | BUB3 | 1.951 | DISEASES 11335 | CBX3 | 1.712 | DISEASES 978 | CDA | 1.793 | DISEASES 6792 | CDKL5 | 1 | DISEASES 1111 | CHEK1 | 1.075 | DISEASES 10256 | CNKSR1 | 2.818 | DISEASES 10987 | COPS5 | 1.131 | DISEASES 8451 | CUL4A | 3.737 | DISEASES 8065 | CUL5 | 2.008 | DISEASES 9937 | DCLRE1A | 1.994 | DISEASES 1663 | DDX11 | 3.556 | DISEASES 9188 | DDX21 | 3.01 | DISEASES 1667 | DEFA1 | 1.891 | DISEASES 728358 | DEFA1B | 1.891 | DISEASES 1668 | DEFA3 | 1.665 | DISEASES 1719 | DHFR | 3.294 | DISEASES 1789 | DNMT3B | 1.315 | DISEASES 51514 | DTL | 2.256 | DISEASES 1915 | EEF1A1 | 1.017 | DISEASES 10919 | EHMT2 | 1.16 | DISEASES 284131 | ENDOV | 3.92 | DISEASES 56943 | ENY2 | 2.475 | DISEASES 2068 | ERCC2 | 5.001 | DISEASES 2073 | ERCC5 | 4.868 | DISEASES 2074 | ERCC6 | 6.821 | DISEASES 84893 | FBXO18 | 3.154 | DISEASES 2242 | FES | 1.589 | DISEASES 2272 | FHIT | 1.165 | DISEASES 23732 | FRRS1L | 2.388 | DISEASES 2737 | GLI3 | 1.348 | DISEASES 2959 | GTF2B | 3.116 | DISEASES 2967 | GTF2H3 | 3.737 | DISEASES 404672 | GTF2H5 | 5.231 | DISEASES 3014 | H2AFX | 1.907 | DISEASES 3045 | HBD | 1.553 | DISEASES 3150 | HMGN1 | 3.078 | DISEASES 3456 | IFNB1 | 1.157 | DISEASES 10989 | IMMT | 2.114 | DISEASES 3714 | JAG2 | 1.006 | DISEASES 3725 | JUN | 2.127 | DISEASES 57582 | KCNT1 | 1.813 | DISEASES 22944 | KIN | 1.976 | DISEASES 79648 | MCPH1 | 1.408 | DISEASES 9656 | MDC1 | 1.31 | DISEASES 4193 | MDM2 | 1.676 | DISEASES 4609 | MYC | 1.197 | DISEASES 4734 | NEDD4 | 1.195 | DISEASES 23327 | NEDD4L | 1.157 | DISEASES 79661 | NEIL1 | 2.664 | DISEASES 4800 | NFYA | 1.728 | DISEASES 4521 | NUDT1 | 1.168 | DISEASES 142 | PARP1 | 1.694 | DISEASES 84875 | PARP10 | 2.953 | DISEASES 267004 | PGBD3 | 5.704 | DISEASES 79605 | PGBD5 | 3.243 | DISEASES 5429 | POLH | 4.34 | DISEASES 11201 | POLI | 3.169 | DISEASES 10450 | PPIE | 2.514 | DISEASES 5887 | RAD23B | 4.017 | DISEASES 5888 | RAD51 | 3.214 | DISEASES 5889 | RAD51C | 1.245 | DISEASES 5893 | RAD52 | 2.218 | DISEASES 23186 | RCOR1 | 1.777 | DISEASES 6025 | RN5S1@ | 3.521 | DISEASES 6045 | RNF2 | 1.594 | DISEASES 80196 | RNF34 | 1.728 | DISEASES 6118 | RPA2 | 1.915 | DISEASES 51750 | RTEL1 | 2.025 | DISEASES 404552 | SCGB1D4 | 2.986 | DISEASES 10479 | SLC9A6 | 1.658 | DISEASES 84679 | SLC9A7 | 1.911 | DISEASES 6594 | SMARCA1 | 4.506 | DISEASES 6597 | SMARCA4 | 3.905 | DISEASES 6613 | SUMO2 | 1.339 | DISEASES 6829 | SUPT5H | 2.81 | DISEASES 143425 | SYT9 | 2.75 | DISEASES 6917 | TCEA1 | 4.521 | DISEASES 6919 | TCEA2 | 5.333 | DISEASES 6920 | TCEA3 | 5.349 | DISEASES 55775 | TDP1 | 1.619 | DISEASES 7003 | TEAD1 | 2.281 | DISEASES 7150 | TOP1 | 2.134 | DISEASES 7153 | TOP2A | 1.291 | DISEASES 7158 | TP53BP1 | 2.218 | DISEASES 11277 | TREX1 | 1.042 | DISEASES 8458 | TTF2 | 3.351 | DISEASES 7874 | USP7 | 3.557 | DISEASES 57654 | UVSSA | 5.879 | DISEASES 56949 | XAB2 | 5.147 | DISEASES 7507 | XPA | 6.142 | DISEASES 91603 | ZNF830 | 3.707 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 467 |
|---|---|
| Disease | cockayne syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:62) HP:0000028 | Cryptorchidism HP:0000670 | Carious teeth HP:0000568 | Microphthalmia HP:0000518 | Cataract HP:0012378 | Fatigue HP:0004322 | Short stature HP:0001268 | Mental deterioration HP:0002213 | Fine hair HP:0000365 | Hearing impairment HP:0100585 | Telangiectasia of the skin HP:0001176 | Large hands HP:0007495 | Prematurely aged appearance HP:0000366 | Abnormality of the nose HP:0002644 | Abnormality of pelvic girdle bone morphology HP:0010783 | Erythema HP:0000987 | Atypical scarring of skin HP:0001257 | Spasticity HP:0000490 | Deeply set eye HP:0100820 | Glomerulopathy HP:0001251 | Ataxia HP:0000532 | Chorioretinal abnormality HP:0000486 | Strabismus HP:0009830 | Peripheral neuropathy HP:0001531 | Failure to thrive in infancy HP:0000822 | Hypertension HP:0000684 | Delayed eruption of teeth HP:0001639 | Hypertrophic cardiomyopathy HP:0002120 | Cerebral cortical atrophy HP:0000407 | Sensorineural hearing impairment HP:0004408 | Abnormality of the sense of smell HP:0002804 | Arthrogryposis multiplex congenita HP:0008066 | Abnormal blistering of the skin HP:0011968 | Feeding difficulties HP:0002353 | EEG abnormality HP:0001250 | Seizures HP:0000077 | Abnormality of the kidney HP:0000252 | Microcephaly HP:0100022 | Abnormality of movement HP:0002514 | Cerebral calcification HP:0002808 | Kyphosis HP:0008070 | Sparse hair HP:0000648 | Optic atrophy HP:0000926 | Platyspondyly HP:0000762 | Decreased nerve conduction velocity HP:0001595 | Abnormality of the hair HP:0001760 | Abnormality of the foot HP:0007703 | Abnormality of retinal pigmentation HP:0001249 | Intellectual disability HP:0000202 | Oral cleft HP:0000488 | Retinopathy HP:0000992 | Cutaneous photosensitivity HP:0001015 | Prominent superficial veins HP:0001337 | Tremor HP:0001347 | Hyperreflexia HP:0000100 | Nephrotic syndrome HP:0000400 | Macrotia HP:0001387 | Joint stiffness HP:0010807 | Open bite HP:0100783 | Breast aplasia HP:0000174 | Abnormality of the palate HP:0008065 | Aplasia/Hypoplasia of the skin HP:0007440 | Generalized hyperpigmentation |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:12) HP:0007325 | Generalized dystonia | 1 HP:0001396 | Cholestasis | 1 HP:0002155 | Increased triglycerides | 1 HP:0009125 | Lipodystrophy | 1 HP:0001332 | Dystonia | 1 HP:0000939 | Osteoporosis | 1 HP:0000951 | dermatopathy | 1 HP:0000855 | Insulin resistance | 1 HP:0009064 | Generalized lipodystrophy | 1 HP:0002180 | Neurodegeneration | 1 HP:0002186 | Apraxia | 1 HP:0002514 | Intracranial calcifications | 1 |
| Disease ID | 467 |
|---|---|
| Disease | cockayne syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:9) |
| 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:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121434323 | 21108394 | 1161 | ERCC8 | umls:C0009207 | BeFree | High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel. | 0.141321813 | 2010 | ERCC8 | 5 | 60890964 | G | T |
| rs121434575 | 11841555 | 2073 | ERCC5 | umls:C0009207 | BeFree | Our results suggest that the L858P protein in XP2BI and the almost full-length XPG protein in XP3BR are responsible for this activity and for the absence of severe early onset Cockayne syndrome symptoms in these patients. | 0.010877538 | 2002 | ERCC5;BIVM-ERCC5 | 13 | 102868152 | T | C |
| rs150840924 | 19842191 | 4000 | LMNA | umls:C0009207 | BeFree | Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation. | 0.003528744 | 2009 | LMNA | 1 | 156136359 | 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:28) | ||||
|---|---|---|---|---|
| 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:0000648 | Optic atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| 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:0001387 | Joint stiffness | MP:0003098 | decreased tendon stiffness | reduced ability of tendon to maintain tensile strength and load |
| HP:0000992 | Cutaneous photosensitivity | MP:0001202 | skin photosensitivity | abnormally heightened reactivity of the skin to sunlight |
| HP:0000202 | Oral cleft | MP:0009890 | cleft secondary palate | congenital fissure of the tissues normally uniting to form the secondary palate |
| HP:0001639 | Hypertrophic cardiomyopathy | MP:0005330 | cardiomyopathy | diseases of the heart (myocardium); may result from many causes |
| HP:0000174 | Abnormality of the palate | MP:0010701 | fusion of atlas and odontoid process | the large protuberance that projects upward from the cervical axis (C2), around which the cervical atlas normally rotates, is instead fused to elements of the atlas; the odontoid process may or may not remain attached to the axis |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | 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:0001760 | Abnormality of the foot | 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: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:0007703 | Abnormality of retinal pigmentation | 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:0004408 | Abnormality of the sense of smell | 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:0000987 | Atypical scarring of skin | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0000366 | Abnormality of the nose | 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:0001531 | Failure to thrive in infancy | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000407 | Sensorineural hearing impairment | MP:0006330 | syndromic hearing impairment | hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms |
| 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:0100022 | Abnormality of movement | MP:0005223 | abnormal dorsal-ventral polarity of the somites | anomalous development or formation of the pattern of somites along the axis that runs from the front (ventral) to the back (dorsal) surface of the body |
| HP:0007440 | Generalized hyperpigmentation | MP:0001188 | hyperpigmentation | excess of pigment in any or all tissues or a part of a tissue |
| HP:0000684 | Delayed eruption of teeth | 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:0000077 | Abnormality of the kidney | 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: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:0002213 | Fine hair | MP:0010685 | abnormal hair follicle inner root sheath morphology | any structural anomaly of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer a |
| HP:0002120 | Cerebral cortical atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0000762 | Decreased nerve conduction velocity | MP:0008814 | decreased nerve conduction velocity | decrease in the rate at which an electrical impulse travels through a nerve |
| 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:62) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000987 | Atypical scarring of skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0002120 | Cerebral cortical atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001250 | Seizures | 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:0010783 | Erythema | MP:0013781 | abnormal mammary gland luminal epithelium morphology | any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti |
| 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:0009830 | Peripheral neuropathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002353 | EEG abnormality | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0002213 | Fine hair | MP:0013897 | decreased eyelid cilium number | reduction in the number of the hairs that grow at the edge of the upper or lower eyelid |
| HP:0001347 | Hyperreflexia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000174 | Abnormality of the palate | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0000407 | Sensorineural hearing impairment | 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:0100022 | Abnormality of movement | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001257 | Spasticity | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000992 | Cutaneous photosensitivity | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100820 | Glomerulopathy | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| 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: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:0001268 | Mental deterioration | 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:0011968 | Feeding difficulties | 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:0001760 | Abnormality of the foot | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002804 | Arthrogryposis multiplex congenita | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001337 | Tremor | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000077 | Abnormality of the kidney | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| 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:0004408 | Abnormality of the sense of smell | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100783 | Breast aplasia | 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:0001639 | Hypertrophic cardiomyopathy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000670 | Carious teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0012378 | Fatigue | 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:0000532 | Chorioretinal abnormality | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000568 | Microphthalmia | 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:0001015 | Prominent superficial veins | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001531 | Failure to thrive in infancy | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| 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:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0010807 | Open bite | 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:0001251 | Ataxia | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0007440 | Generalized hyperpigmentation | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0000684 | Delayed eruption of teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0000488 | Retinopathy | 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:0000366 | Abnormality of the nose | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000202 | Oral cleft | 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:0000926 | Platyspondyly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001387 | Joint stiffness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0007495 | Prematurely aged appearance | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| 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:0000762 | Decreased nerve conduction velocity | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000400 | Macrotia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| 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:0002644 | Abnormality of pelvic girdle bone morphology | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002808 | Kyphosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0007703 | Abnormality of retinal pigmentation | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000648 | Optic atrophy | 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: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 |
| HP:0001176 | Large hands | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| Disease ID | 467 |
|---|---|
| Disease | cockayne syndrome |
| Case | (Waiting for update.) |