eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| duane retraction syndrome | ||||
| Disease ID | 614 |
|---|---|
| Disease | duane retraction syndrome |
| Definition | A syndrome characterized by marked limitation of abduction of the eye, variable limitation of adduction and retraction of the globe, and narrowing of the palpebral fissure on attempted adduction. The condition is caused by aberrant innervation of the lateral rectus by fibers of the OCULOMOTOR NERVE. |
| Synonym | anomalies, isolated duane anomaly, duane anomaly, isolated duane co contractive retraction syndrome co-contractive retraction syndrome co-contractive retraction syndromes drs duane anomalies, isolated duane anomaly duane anomaly, isolated duane retraction syndrome [disease/finding] duane syndrome duane's retraction syndrome duane's syndrome duane's syndrome (disorder) duanes retraction syndrome duanes syndrome duanes's syndrome dus eye retraction syndrome isolated duane anomalies isolated duane anomaly isolated duane retraction syndrome ocular retraction syndrome ocular retraction syndromes retraction syndrome retraction syndrome, co-contractive retraction syndrome, duane retraction syndrome, ocular retraction syndromes retraction syndromes, co-contractive retraction syndromes, ocular stilling turk duane syndrome stilling-turk-duane syndrome stilling-turk-duane syndromes syndrome, co-contractive retraction syndrome, duane syndrome, duane retraction syndrome, duane's syndrome, ocular retraction syndrome, retraction syndrome, stilling-turk-duane syndromes, co-contractive retraction syndromes, ocular retraction syndromes, retraction syndromes, stilling-turk-duane |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0013261 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:11) C0014877 | esotropia | 3 C0028738 | nystagmus | 1 C0271097 | usher syndrome | 1 C0024796 | marfan syndrome | 1 C0014306 | enophthalmos | 1 C0025289 | meningitis | 1 C0015310 | exotropia | 1 C0038379 | strabismus | 1 C0027404 | narcolepsy | 1 C0265240 | goldenhar syndrome | 1 C0152227 | crocodile tears | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:5) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:22) 4345 | CD200 | 2.018 | DISEASES 55636 | CHD7 | 2.836 | DISEASES 1123 | CHN1 | 7.175 | DISEASES 157807 | CLVS1 | 4.674 | DISEASES 84570 | COL25A1 | 3.643 | DISEASES 9244 | CRLF1 | 2.074 | DISEASES 1805 | DPT | 1.525 | DISEASES 56940 | DUSP22 | 3.115 | DISEASES 2258 | FGF13 | 1.32 | DISEASES 8822 | FGF17 | 3.073 | DISEASES 2296 | FOXC1 | 1.98 | DISEASES 3052 | HCCS | 1.398 | DISEASES 3198 | HOXA1 | 2.924 | DISEASES 55605 | KIF21A | 5.305 | DISEASES 5799 | PTPRN2 | 2.089 | DISEASES 84932 | RAB2B | 3.03 | DISEASES 5888 | RAD51 | 1.154 | DISEASES 80196 | RNF34 | 2.866 | DISEASES 64221 | ROBO3 | 4.805 | DISEASES 6295 | SAG | 1.587 | DISEASES 50945 | TBX22 | 2.648 | DISEASES 10381 | TUBB3 | 4.083 | DISEASES |
| Locus | Symbol | Locus(Total Locus:3) |
| Disease ID | 614 |
|---|---|
| Disease | duane retraction syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:55) HP:0000639 | Nystagmus HP:0001263 | Global developmental delay HP:0001357 | Plagiocephaly HP:0000470 | Short neck HP:0000615 | Abnormality of the pupil HP:0000496 | Abnormality of eye movement HP:0000581 | Blepharophimosis HP:0000402 | Stenosis of the external auditory canal HP:0000646 | Amblyopia HP:0005640 | Abnormal vertebral segmentation and fusion HP:0007990 | Hypoplastic iris stroma HP:0000365 | Hearing impairment HP:0012745 | Short palpebral fissure HP:0000643 | Blepharospasm HP:0000232 | Everted lower lip vermilion HP:0000508 | Ptosis HP:0012732 | Anorectal anomaly HP:0001156 | Brachydactyly syndrome HP:0000086 | Ectopic kidney HP:0011365 | Patchy hypopigmentation of hair HP:0000490 | Deeply set eye HP:0000347 | Micrognathia HP:0003974 | Absent radius HP:0002564 | Malformation of the heart and great vessels HP:0001053 | Hypopigmented skin patches HP:0000486 | Strabismus HP:0001762 | Talipes equinovarus HP:0000465 | Webbed neck HP:0003298 | Spina bifida occulta HP:0007818 | Central heterochromia HP:0000407 | Sensorineural hearing impairment HP:0000384 | Preauricular skin tag HP:0011386 | Narrow internal auditory canal HP:0000612 | Iris coloboma HP:0012246 | Oculomotor nerve palsy HP:0001250 | Seizures HP:0000324 | Facial asymmetry HP:0000175 | Cleft palate HP:0001177 | Preaxial hand polydactyly HP:0002984 | Hypoplasia of the radius HP:0003312 | Abnormal form of the vertebral bodies HP:0007400 | Irregular hyperpigmentation HP:0000252 | Microcephaly HP:0000431 | Wide nasal bridge HP:0002162 | Low posterior hairline HP:0009601 | Aplasia/Hypoplasia of the thumb HP:0012385 | Camptodactyly HP:0000567 | Chorioretinal coloboma HP:0001199 | Triphalangeal thumb HP:0000526 | Aniridia HP:0000463 | Anteverted nares HP:0007766 | Optic disc hypoplasia HP:0008572 | External ear malformation HP:0003202 | Skeletal muscle atrophy HP:0000482 | Microcornea |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:14) HP:0000565 | Inward turning of one or both eyes | 3 HP:0000473 | Spasmodic torticollis | 2 HP:0000490 | Sunken eyes | 1 HP:0000577 | Exotropia | 1 HP:0006946 | Recurrent meningitis | 1 HP:0000369 | Low-set ears | 1 HP:0000274 | Hypoplasia of face | 1 HP:0030050 | Narcolepsy | 1 HP:0012714 | Severe hearing loss | 1 HP:0000486 | Squint eyes | 1 HP:0000661 | Palpebral fissure narrowing on adduction | 1 HP:0000609 | Optic nerve hypoplasia | 1 HP:0000639 | Nystagmus | 1 HP:0001287 | Meningitis | 1 |
| Disease ID | 614 |
|---|---|
| Disease | duane retraction syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:25) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000431 | Wide nasal bridge | MP:0006292 | abnormal nasal placode morphology | any structural anomaly in the paired ectodermal placodes that come to lie in the bottom of the olfactory pits as the pits are deepened by the growth of the surrounding medial and lateral nasal processes; the nasal placode gives rise to the olfactory epith |
| HP:0000384 | Preauricular skin tag | MP:0001786 | skin edema | accumulation of an excessive amount of fluid in the skin layers or just underneath the skin |
| HP:0000402 | Stenosis of the external auditory canal | MP:0010728 | fusion of atlas and occipital bones | union of elements of the atlas and the bone at the lower, posterior part of the skull into one structure |
| HP:0007990 | Hypoplastic iris stroma | MP:0011481 | anterior iris synechia | adhesion of the iris to the cornea |
| 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:0002984 | Hypoplasia of the radius | MP:0010178 | increased number of Howell-Jolly bodies | abnormal presence of basophilic nuclear remnants of condensed DNA (1 to 2 um in diameter) in circulating erythrocytes, typically seen in severe hemolytic anemias or after splenectomy; these inclusions are normally removed by the spleen but will persist in |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0000496 | Abnormality of eye movement | MP:0012287 | increased frequency of paradoxical sleep | increased incidence or duration of the sleep stage in which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity |
| HP:0003312 | Abnormal form of the vertebral bodies | 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:0005640 | Abnormal vertebral segmentation and fusion | MP:0004609 | vertebral fusion | the union of one or more vertebrae into a single structure |
| HP:0000086 | Ectopic kidney | MP:0011441 | decreased kidney cell proliferation | decrease in the expansion rate of any kidney cell population by cell division |
| HP:0000175 | Cleft palate | MP:0013550 | abnormal secondary palate morphology | |
| HP:0001177 | Preaxial hand polydactyly | MP:0009744 | postaxial polydactyly | duplication of all or part of any of the rays except the first ray on one or more of the autopods |
| 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:0001053 | Hypopigmented skin patches | MP:0004947 | skin inflammation | local accumulation of fluid, plasma proteins, and leukocytes in the skin |
| HP:0003298 | Spina bifida occulta | MP:0005297 | spina bifida occulta | defective closure of the laminae of the vertebral column in the lumbosacral region without hernial protrusion of the spinal cord or meninges; the mildest, most common and often asymptomatic form of spina bifida, identified externally by a skin depression |
| HP:0000615 | Abnormality of the pupil | 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:0000612 | Iris coloboma | MP:0005262 | coloboma | anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation |
| 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:0003202 | Skeletal muscle atrophy | MP:0014068 | abnormal muscle glycogen level | the normal concentration of a readily converted carbohydrate reserve in muscle tissue |
| HP:0000470 | Short neck | MP:0012720 | elongated neck | increased length of the neck |
| HP:0007766 | Optic disc hypoplasia | MP:0008259 | abnormal optic disc morphology | any structural anomaly of the area in the retina where all of the axons of the ganglion cells exit the retina to form the optic nerve |
| HP:0000232 | Everted lower lip vermilion | MP:0005170 | cleft upper lip | defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences |
| HP:0003974 | Absent radius | MP:0008951 | long radius | increased length of the short bone of the lateral forearm |
Mapped by homologous gene(Total Items:51) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0005640 | Abnormal vertebral segmentation and fusion | MP:0013207 | absent endoderm | absence of the innermost of the three primary germ layers of the embryo (the others being mesoderm and ectoderm) that is formed during gastrulation |
| HP:0002162 | Low posterior hairline | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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: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: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:0000567 | Chorioretinal coloboma | MP:0013767 | decreased palatal rugae number | reduced number of transverse folds (ridges) of the mucosa located on the anterior third part of the secondary (hard) palate of most mammalian species |
| HP:0001177 | Preaxial hand polydactyly | 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:0000463 | Anteverted nares | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0003202 | Skeletal muscle atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000615 | Abnormality of the pupil | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0000324 | Facial asymmetry | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0012246 | Oculomotor nerve palsy | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| 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:0000482 | Microcornea | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000581 | Blepharophimosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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: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:0000384 | Preauricular skin tag | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001357 | Plagiocephaly | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0001156 | Brachydactyly syndrome | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0012385 | Camptodactyly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000086 | Ectopic kidney | 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:0000612 | Iris coloboma | MP:0013791 | absent external nares | absence or failure to form both of the anterior openings to the nasal cavity |
| 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: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:0003974 | Absent radius | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001199 | Triphalangeal thumb | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0000470 | Short neck | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000175 | Cleft palate | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0007766 | Optic disc hypoplasia | 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:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000232 | Everted lower lip vermilion | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0007818 | Central heterochromia | MP:0011098 | embryonic lethality during organogenesis, complete penetrance | death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) |
| HP:0000639 | Nystagmus | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0003312 | Abnormal form of the vertebral bodies | 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:0003298 | Spina bifida occulta | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000643 | Blepharospasm | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0001762 | Talipes equinovarus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002984 | Hypoplasia of the radius | 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:0000526 | Aniridia | 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:0000496 | Abnormality of eye movement | 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:0012745 | Short palpebral fissure | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0007990 | Hypoplastic iris stroma | 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:0000646 | Amblyopia | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0000465 | Webbed neck | 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:0000402 | Stenosis of the external auditory canal | 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:0000431 | Wide nasal bridge | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 614 |
|---|---|
| Disease | duane retraction syndrome |
| Case | (Waiting for update.) |