eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| auriculo-condylar syndrome | ||||
| Disease ID | 1955 |
|---|---|
| Disease | auriculo-condylar syndrome |
| Synonym | arcnd1 auriculo-condylar syndrome (disorder) auriculocondylar syndrome auriculocondylar syndrome 1 dysgnathia complex ears prominent and constricted question mark ear question mark ears syndrome question-mark ear syndrome |
| Orphanet | |
| OMIM | |
| UMLS | C1865295 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:5) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1955 |
|---|---|
| Disease | auriculo-condylar syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:23) HP:0000311 | Round facial shape HP:0000689 | Misalignment of upper and lower dental arches HP:0000402 | Stenosis of the external auditory canal HP:0000347 | Hypoplasia of mandible HP:0000256 | Macrocrania HP:0005216 | Chewing difficulties HP:0000678 | Dental crowding HP:0008537 | Cleft at the superior portion of the pinna HP:0007628 | Hypoplasia of subcondylar region of mandible HP:0000162 | Retraction of the tongue HP:0009088 | Speech articulation difficulties HP:0000369 | Low-set ears HP:0000175 | Palatoschisis HP:0000358 | Ear, posterior angulation, increased HP:0000384 | Preauricular skin tag HP:0004451 | Postauricular acrochordon HP:0004453 | Reduced anterior-posterior diameter of vertebral bodies HP:0000160 | Small mouth HP:0007627 | Mandibular condyle aplasia HP:0000378 | Cupped ear HP:0008559 | Underdeveloped superior helices HP:0002104 | Absence of spontaneous respiration HP:0009102 | Gap between upper and lower front teeth when biting |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1955 |
|---|---|
| Disease | auriculo-condylar 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:10) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs387906667 | NA | 5396 | PRRX1 | umls:C1876185 | CLINVAR | NA | 0.480271442 | NA | PRRX1 | 1 | 170719822 | T | C |
| rs387907178 | NA | 2773 | GNAI3 | umls:C1865295 | CLINVAR | NA | 0.361085767 | NA | GNAI3;LOC101928560 | 1 | 109548838 | G | C |
| rs387907179 | NA | 5332 | PLCB4 | umls:C1865295 | CLINVAR | NA | 0.241085767 | NA | PLCB4 | 20 | 9384333 | A | C,G |
| rs397514480 | NA | 5332 | PLCB4 | umls:C1865295 | CLINVAR | NA | 0.241085767 | NA | PLCB4 | 20 | 9409086 | A | G |
| rs397514481 | NA | 5332 | PLCB4 | umls:C1865295 | CLINVAR | NA | 0.241085767 | NA | PLCB4 | 20 | 9409080 | G | A,T |
| rs397514482 | NA | 5332 | PLCB4 | umls:C1865295 | CLINVAR | NA | 0.241085767 | NA | PLCB4 | 20 | 9409079 | C | A,T |
| rs397514483 | NA | 5332 | PLCB4 | umls:C1865295 | CLINVAR | NA | 0.241085767 | NA | PLCB4 | 20 | 9409166 | A | C |
| rs397514768 | NA | 2773 | GNAI3 | umls:C1865295 | CLINVAR | NA | 0.361085767 | NA | GNAI3 | 1 | 109573759 | C | A |
| rs398122375 | NA | 5396 | PRRX1 | umls:C1876185 | CLINVAR | NA | 0.480271442 | NA | PRRX1 | 1 | 170719753 | A | - |
| rs398122376 | NA | 5396 | PRRX1 | umls:C1876185 | CLINVAR | NA | 0.480271442 | NA | PRRX1 | 1 | 170719753 | - | AAAA |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000689 | Dental malocclusion | MP:0000120 | malocclusion | perturbations in the normal patterned arrangement of the teeth or alignment of the jaw, resulting in the incorrect position of biting or chewing surfaces of the upper and lower teeth |
| HP:0000175 | Cleft palate | MP:0013550 | abnormal secondary palate morphology | |
| 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:0007628 | Mandibular condyle hypoplasia | MP:0010543 | aorta tubular hypoplasia | a diffuse narrowing of the lumen of the aorta |
| HP:0000311 | Round face | MP:0012546 | triangular face | a face whose lower half becomes relatively thin, approaching an appearance of a triangle with a tip facing downwards; usually associated with a prominent forehead and micrognathia |
| 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:0000378 | Cupped ear | MP:0006286 | inner ear hypoplasia | underdevelopment or reduced size of inner ear structures, usually due to decreased cell number |
| HP:0000160 | Narrow mouth | MP:0000452 | abnormal mouth morphology | any structural anomaly of the oral cavity |
Mapped by homologous gene(Total Items:23) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000689 | Dental malocclusion | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005216 | Chewing difficulties | MP:0011089 | perinatal lethality, complete penetrance | death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1) |
| 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:0007627 | Mandibular condyle aplasia | MP:0011089 | perinatal lethality, complete penetrance | death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1) |
| HP:0004451 | Postauricular skin tag | MP:0011089 | perinatal lethality, complete penetrance | death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1) |
| HP:0000384 | Preauricular skin tag | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000358 | Posteriorly rotated ears | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0009088 | Speech articulation difficulties | MP:0011089 | perinatal lethality, complete penetrance | death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1) |
| HP:0004453 | Overfolding of the superior helices | 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:0009102 | Anterior open-bite malocclusion | MP:0011894 | decreased circulating transferrin level | reduced concentration in the blood of a plasma protein that reversibly binds and transports iron and other metal ions through the blood to the liver, spleen and bone marrow |
| HP:0008537 | Cleft at the superior portion of the pinna | MP:0011089 | perinatal lethality, complete penetrance | death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1) |
| HP:0002104 | Apnea | 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:0007628 | Mandibular condyle hypoplasia | MP:0011089 | perinatal lethality, complete penetrance | death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1) |
| HP:0008559 | Hypoplastic superior helix | MP:0013550 | abnormal secondary palate morphology | |
| HP:0000160 | Narrow mouth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0000162 | Glossoptosis | MP:0013292 | embryonic lethality prior to organogenesis | death prior to the completion of embryo turning (Mus: E9-9.5) |
| HP:0000378 | Cupped ear | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000311 | Round face | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000678 | Dental crowding | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000369 | Low-set ears | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000256 | Macrocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| 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 |
| Disease ID | 1955 |
|---|---|
| Disease | auriculo-condylar syndrome |
| Case | (Waiting for update.) |