eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| rothmund-thomson syndrome | ||||
| Disease ID | 304 |
|---|---|
| Disease | rothmund-thomson syndrome |
| Definition | An autosomal recessive inherited syndrome usually caused by mutations in the RECQL4 gene. It is characterized by poikilodermatous skin changes, sparse hair, cataracts, small stature, skeletal abnormalities, and an increased predisposition to cancer, particularly osteosarcoma. |
| Synonym | congenital poikiloderma congenitale, poikiloderma congenitales, poikiloderma poikiloderma atrophicans and cataract poikiloderma congen poikiloderma congenitale poikiloderma congenitale of rothmund-thomson poikiloderma congenitale syndrome poikiloderma congenitales poikiloderma of rothmund thomson poikiloderma of rothmund-thomson poikiloderma, congenital rothmund thomson syndrome rothmund-thomson poikiloderma rothmund-thomson poikilodermas rothmund-thomson syndrome (disorder) rothmund-thomson syndrome [disease/finding] rts syndrome, rothmund-thomson |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0032339 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0029463 | osteosarcoma | 2 C0008049 | varicella infection | 1 C0008049 | varicella | 1 C0026985 | myelodysplasia | 1 |
| 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:42) 199 | AIF1 | 1.134 | DISEASES 546 | ATRX | 1.354 | DISEASES 641 | BLM | 3.621 | DISEASES 714 | C1QC | 2.942 | DISEASES 8318 | CDC45 | 3.76 | DISEASES 1280 | COL2A1 | 1.211 | DISEASES 1369 | CPN1 | 1.767 | DISEASES 1443 | CSH2 | 1.47 | DISEASES 1663 | DDX11 | 3.799 | DISEASES 55556 | ENOSF1 | 4.843 | DISEASES 2068 | ERCC2 | 1.336 | DISEASES 2074 | ERCC6 | 2.542 | DISEASES 374393 | FAM111B | 3.638 | DISEASES 55120 | FANCL | 1.851 | DISEASES 11116 | FGFR1OP | 3.43 | DISEASES 2737 | GLI3 | 1.178 | DISEASES 2993 | GYPA | 1.429 | DISEASES 3098 | HK1 | 1.983 | DISEASES 3182 | HNRNPAB | 3.454 | DISEASES 9851 | KIAA0753 | 2.394 | DISEASES 55388 | MCM10 | 3.386 | DISEASES 2649 | NR6A1 | 2.347 | DISEASES 5429 | POLH | 2.246 | DISEASES 5514 | PPP1R10 | 2.866 | DISEASES 5745 | PTH1R | 1.508 | DISEASES 5888 | RAD51 | 2.367 | DISEASES 5932 | RBBP8 | 2.258 | DISEASES 5965 | RECQL | 6.111 | DISEASES 6188 | RPS3 | 2.898 | DISEASES 140885 | SIRPA | 1.783 | DISEASES 23410 | SIRT3 | 1.311 | DISEASES 6559 | SLC12A3 | 1.318 | DISEASES 6648 | SOD2 | 1.243 | DISEASES 6668 | SP2 | 2.392 | DISEASES 6999 | TDO2 | 2.113 | DISEASES 7153 | TOP2A | 2.125 | DISEASES 7155 | TOP2B | 1.734 | DISEASES 7156 | TOP3A | 3.314 | DISEASES 7158 | TP53BP1 | 1.504 | DISEASES 23304 | UBR2 | 3.433 | DISEASES 7520 | XRCC5 | 1.616 | DISEASES 2547 | XRCC6 | 1.348 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 304 |
|---|---|
| Disease | rothmund-thomson syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:79) HP:0002216 | Premature graying of hair HP:0001263 | Global developmental delay HP:0000670 | Carious teeth HP:0002860 | Squamous cell carcinoma HP:0006753 | Neoplasm of the stomach HP:0002110 | Bronchiectasis HP:0008066 | Abnormal blistering of the skin HP:0000535 | Sparse eyebrow HP:0006368 | Forearm reduction defects HP:0004322 | Short stature HP:0000365 | Hearing impairment HP:0001373 | Joint dislocation HP:0000972 | Palmoplantar hyperkeratosis HP:0001376 | Limitation of joint mobility HP:0000508 | Ptosis HP:0002669 | Osteosarcoma HP:0000135 | Hypogonadism HP:0000563 | Keratoconus HP:0002671 | Basal cell carcinoma HP:0010783 | Erythema HP:0000490 | Deeply set eye HP:0001029 | Poikiloderma HP:0001371 | Flexion contracture HP:0001374 | Congenital hip dislocation HP:0000347 | Micrognathia HP:0002007 | Frontal bossing HP:0000965 | Cutis marmorata HP:0001053 | Hypopigmented skin patches HP:0005692 | Joint hyperflexibility HP:0000316 | Hypertelorism HP:0000822 | Hypertension HP:0000112 | Nephropathy HP:0000164 | Abnormality of the teeth HP:0002017 | Nausea and vomiting HP:0001120 | Abnormality of corneal size HP:0200042 | Skin ulcer HP:0009804 | Reduced number of teeth HP:0000407 | Sensorineural hearing impairment HP:0002804 | Arthrogryposis multiplex congenita HP:0001903 | Anemia HP:0002024 | Malabsorption HP:0000271 | Abnormality of the face HP:0001510 | Growth delay HP:0000924 | Abnormality of the skeletal system HP:0007759 | Opacification of the corneal stroma HP:0000834 | Abnormality of the adrenal glands HP:0000286 | Epicanthus HP:0000962 | Hyperkeratosis HP:0005107 | Abnormality of the sacrum HP:0002664 | Neoplasm HP:0002665 | Lymphoma HP:0002997 | Abnormality of the ulna HP:0007400 | Irregular hyperpigmentation HP:0001163 | Abnormality of the metacarpal bones HP:0000252 | Microcephaly HP:0000938 | Osteopenia HP:0002650 | Scoliosis HP:0003065 | Patellar hypoplasia HP:0008070 | Sparse hair HP:0001875 | Neutropenia HP:0002021 | Pyloric stenosis HP:0001595 | Abnormality of the hair HP:0000653 | Sparse eyelashes HP:0001249 | Intellectual disability HP:0000202 | Oral cleft HP:0000322 | Short philtrum HP:0009601 | Aplasia/Hypoplasia of the thumb HP:0001363 | Craniosynostosis HP:0006501 | Aplasia/Hypoplasia of the radius HP:0010701 | Abnormal immunoglobulin level HP:0000958 | Dry skin HP:0004334 | Dermal atrophy HP:0000992 | Cutaneous photosensitivity HP:0002863 | Myelodysplasia HP:0002648 | Abnormality of calvarial morphology HP:0001118 | Juvenile cataract HP:0008572 | External ear malformation HP:0000501 | Glaucoma HP:0001231 | Abnormality of the fingernails |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:8) HP:0002669 | Osteosarcoma | 2 HP:0000924 | Abnormality of the skeletal system | 1 HP:0010450 | Narrowing of the esophagus | 1 HP:0002721 | Immunodeficiency | 1 HP:0002863 | Myelodysplastic syndrome | 1 HP:0000677 | Failure of development of more than six teeth | 1 HP:0030084 | Clinodactyly | 1 HP:0004322 | Stature below 3rd percentile | 1 |
| Disease ID | 304 |
|---|---|
| Disease | rothmund-thomson syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:10) C2700513 | aplastic anemia C2697383 | osteosarcoma C1266065 | malignant eccrine poroma C0850497 | immune deficiency C0702159 | constitutional aplastic anemia C0392777 | poikiloderma C0349566 | squamous cell carcinoma of the tongue C0206735 | amelanotic melanoma C0029463 | osteosarcomas C0020302 | infantile glaucoma |
| 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:12) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs117642173 | NA | 9401 | RECQL4 | umls:C0032339 | CLINVAR | NA | 0.353013676 | NA | RECQL4 | 8 | 144515243 | C | T |
| rs137853229 | NA | 9401 | RECQL4 | umls:C0032339 | CLINVAR | NA | 0.353013676 | NA | RECQL4 | 8 | 144513412 | G | A |
| rs386833845 | NA | 9401 | RECQL4 | umls:C0032339 | CLINVAR | NA | 0.353013676 | NA | RECQL4 | 8 | 144514983 | A | - |
| rs386833849 | NA | 9401 | RECQL4 | umls:C0032339 | CLINVAR | NA | 0.353013676 | NA | RECQL4 | 8 | 144513713 | C | T |
| rs386833851 | NA | 9401 | RECQL4 | umls:C0032339 | CLINVAR | NA | 0.353013676 | NA | RECQL4 | 8 | 144513126 | G | A |
| rs398124117 | NA | 9401 | RECQL4 | umls:C0032339 | CLINVAR | NA | 0.353013676 | NA | RECQL4 | 8 | 144513139 | C | T,G |
| rs746636748 | NA | 9401 | RECQL4 | umls:C0032339 | CLINVAR | NA | 0.353013676 | NA | RECQL4;LRRC14 | 8 | 144516070 | CT | - |
| rs752729755 | NA | 9401 | RECQL4 | umls:C0032339 | CLINVAR | NA | 0.353013676 | NA | RECQL4 | 8 | 144513109 | AT | - |
| rs760363252 | NA | 9401 | RECQL4 | umls:C0032339 | CLINVAR | NA | 0.353013676 | NA | RECQL4 | 8 | 144514441 | C | T |
| rs786200887 | NA | 9401 | RECQL4 | umls:C0032339 | CLINVAR | NA | 0.353013676 | NA | RECQL4 | 8 | 144514490 | GCAGGCC | - |
| rs786200890 | NA | 9401 | RECQL4 | umls:C0032339 | CLINVAR | NA | 0.353013676 | NA | RECQL4 | 8 | 144514062 | CTGTGA | - |
| rs794726912 | NA | 9401 | RECQL4 | umls:C0032339 | CLINVAR | NA | 0.353013676 | NA | RECQL4;LRRC14 | 8 | 144517703 | 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:35) | ||||
|---|---|---|---|---|
| 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:0002021 | Pyloric stenosis | MP:0006128 | pulmonary valve stenosis | abnormal narrowing of the pulmonary valve |
| HP:0000972 | Palmoplantar hyperkeratosis | MP:0001242 | hyperkeratosis | thickening of the horny layer of the epidermis |
| 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:0006501 | Aplasia/Hypoplasia of the radius | MP:0012167 | abnormal epigenetic regulation of gene expression | any anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | 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:0000924 | Abnormality of the skeletal system | 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: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:0007759 | Opacification of the corneal stroma | MP:0012129 | failure of blastocyst formation | inability to form a blastocyst from a solid ball of cells known as a morula |
| HP:0009804 | Reduced number of teeth | 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:0000202 | Oral cleft | MP:0009890 | cleft secondary palate | congenital fissure of the tissues normally uniting to form the secondary palate |
| HP:0002997 | Abnormality of the ulna | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0000992 | Cutaneous photosensitivity | MP:0001202 | skin photosensitivity | abnormally heightened reactivity of the skin to sunlight |
| HP:0002860 | Squamous cell carcinoma | MP:0011903 | decreased hematopoietic stem cell proliferation | reduction in the expansion rate of a hematopoietic stem cell population by cell division |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| 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:0000958 | Dry skin | MP:0010678 | abnormal skin adnexa morphology | any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails |
| HP:0001163 | Abnormality of the metacarpal bones | 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:0006753 | Neoplasm of the stomach | 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: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:0008572 | External ear malformation | MP:0006286 | inner ear hypoplasia | underdevelopment or reduced size of inner ear structures, usually due to decreased cell number |
| HP:0005107 | Abnormality of the sacrum | 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: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:0002017 | Nausea and vomiting | MP:0010426 | abnormal heart and great artery attachment | any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta |
| HP:0001376 | Limitation of joint mobility | 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:0010701 | Abnormal immunoglobulin level | MP:0008752 | abnormal tumor necrosis factor level | deviation from the normal levels of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in in |
| 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: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:0002671 | Basal cell carcinoma | 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:0004334 | Dermal atrophy | MP:0011346 | renal tubule atrophy | acquired diminution of the size of the loops of Henle, the proximal convoluted tubule or the distal convoluted tubule associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, |
| 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:0002648 | Abnormality of calvarial morphology | 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: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:0000834 | Abnormality of the adrenal glands | 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 |
Mapped by homologous gene(Total Items:78) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| 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:0000508 | Ptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| 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:0000653 | Sparse eyelashes | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000112 | Nephropathy | 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:0002021 | Pyloric stenosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0000322 | Short philtrum | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0004334 | Dermal atrophy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001376 | Limitation of joint mobility | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002669 | Osteosarcoma | 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: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:0001371 | Flexion contracture | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| 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:0000535 | Sparse eyebrow | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| 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:0002671 | Basal cell carcinoma | MP:0013956 | decreased colon length | reduced length of the portion of the large intestine between the cecum and the rectum |
| HP:0000135 | Hypogonadism | 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:0006753 | Neoplasm of the stomach | 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:0000316 | Hypertelorism | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001903 | Anemia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| 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:0002024 | Malabsorption | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| 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:0001363 | Craniosynostosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006368 | Forearm reduction defects | 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:0000992 | Cutaneous photosensitivity | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0008572 | External ear malformation | 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:0002110 | Bronchiectasis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| 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:0001510 | Growth delay | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000501 | Glaucoma | 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:0001118 | Juvenile cataract | MP:0010263 | total cataracts | a lens opacity which involves both nuclear and cortical regions, including all fibers of a lens; usually congenital |
| 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:0002804 | Arthrogryposis multiplex congenita | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001374 | Congenital hip dislocation | 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:0002997 | Abnormality of the ulna | 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:0000938 | Osteopenia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002648 | Abnormality of calvarial morphology | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| 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:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0009804 | Reduced number of teeth | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001373 | Joint dislocation | 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:0000834 | Abnormality of the adrenal glands | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0007400 | Irregular hyperpigmentation | 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: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:0002860 | Squamous cell carcinoma | MP:0013502 | decreased fibroblast apoptosis | reduction in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0000972 | Palmoplantar hyperkeratosis | MP:0014175 | abnormal ciliary epithelium morphology | any structural anomaly of the double layer lining the inner surfaces of the ciliary processes and the pars plana (i.e. the posterior portion of the ciliary body, aka orbicularis ciliari); the outer layer is the pigmented epithelium, which is composed of l |
| HP:0005107 | Abnormality of the sacrum | 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:0000563 | Keratoconus | MP:0013743 | ciliary body hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the thickened portion of the vascular tunic which lies between the choroid and the iris |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0000962 | Hyperkeratosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002665 | Lymphoma | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000924 | Abnormality of the skeletal system | MP:0014071 | increased cardiac muscle glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in heart muscle |
| HP:0001875 | Neutropenia | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0001163 | Abnormality of the metacarpal bones | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006501 | Aplasia/Hypoplasia of the radius | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000286 | Epicanthus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001029 | Poikiloderma | 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:0010701 | Abnormal immunoglobulin level | 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: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: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:0000958 | Dry skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0005692 | Joint hyperflexibility | MP:0012125 | decreased bronchoconstrictive response | reduction in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography |
| HP:0007759 | Opacification of the corneal stroma | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002007 | Frontal bossing | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002863 | Myelodysplasia | 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: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:0000965 | Cutis marmorata | 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: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:0003065 | Patellar hypoplasia | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| Disease ID | 304 |
|---|---|
| Disease | rothmund-thomson syndrome |
| Case | (Waiting for update.) |