craniofacial microsomia |
Disease ID | 787 |
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Disease | craniofacial microsomia |
Definition | Mandibulofacial dysostosis with congenital eyelid dermoids. |
Synonym | craniofacial microsomia (disorder) craniofacial microsomias disease, goldenhar dysostoses, otomandibular dysostosis, otomandibular dysplasia, facioauriculovertebral dysplasia, lateral facial dysplasia, oculoauriculovertebral dysplasias, facioauriculovertebral dysplasias, lateral facial dysplasias, oculoauriculovertebral facial dysplasia, lateral facial dysplasias, lateral facio-auriculo-vertebral spectrum facio-auriculo-vertebral spectrum (disorder) facio-auriculo-vertebral spectrum (disorder) [ambiguous] facioauriculovertebral dysplasia facioauriculovertebral dysplasias facioauriculovertebral sequence facioauriculovertebral sequences fav sequence first and second branchial arch syndrome first and second branchial arch syndrome (disorder) first and second pharyngeal arch syndromes first arch syndrome first arch syndrome (disorder) first arch syndrome, nos goldenhar disease goldenhar gorlin syndrome goldenhar syndrome goldenhar syndrome (disorder) goldenhar syndrome [disease/finding] goldenhar's syndrome goldenhar-gorlin syndrome goldenhar-gorlin syndromes goldenhars syndrome hemifacial microsomia lateral facial dysplasia lateral facial dysplasias microsomia, craniofacial microsomias, craniofacial moeschler clarren syndrome oav (oculoauriculovertebral) dysplasia oav dysplasia oavs oculoauricular vertebral dysplasia oculoauriculovertebral dysplasia oculoauriculovertebral dysplasias oculoauriculovertebral spectrum oculoauriculovertebral spectrums oculoauriculovertebral syndrome oral mandibular auricular syndrome oral-mandibular-auricular syndrome oral-mandibular-auricular syndromes otomandibular dysostoses otomandibular dysostosis otomandibular dysostosis (disorder) otomandibular syndrome syndrome goldenhar syndrome, goldenhar syndrome, goldenhar-gorlin syndrome, moeschler clarren syndrome, oculoauriculovertebral syndrome, oral-mandibular-auricular syndromes, goldenhar-gorlin syndromes, oral-mandibular-auricular |
Orphanet | |
OMIM | |
DOID | |
UMLS | C0265240 |
MeSH | |
SNOMED-CT | |
Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0037315 | sleep apnea | 1 C0037315 | sleep apnoea | 1 C0520679 | obstructive sleep apnoea | 1 C0520679 | obstructive sleep apnea | 1 |
Curated Gene | (Waiting for update.) |
Inferring Gene | (Waiting for update.) |
Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:72) 3861 | KRT14 | DISEASES 7443 | VRK1 | DISEASES 57167 | SALL4 | DISEASES 1723 | DHODH | DISEASES 3199 | HOXA2 | DISEASES 1592 | CYP26A1 | DISEASES 1337 | COX6A1 | DISEASES 4488 | MSX2 | DISEASES 6299 | SALL1 | DISEASES 3852 | KRT5 | DISEASES 5914 | RARA | DISEASES 182 | JAG1 | DISEASES 79572 | ATP13A3 | DISEASES 1208 | CLPS | DISEASES 23314 | SATB2 | DISEASES 2184 | FAH | DISEASES 3340 | NDST1 | DISEASES 27443 | CECR2 | DISEASES 6598 | SMARCB1 | DISEASES 10923 | SUB1 | DISEASES 775 | CACNA1C | DISEASES 2588 | GALNS | DISEASES 4851 | NOTCH1 | DISEASES 170692 | ADAMTS18 | DISEASES 4838 | NODAL | DISEASES 5304 | PIP | DISEASES 9965 | FGF19 | DISEASES 3549 | IHH | DISEASES 6469 | SHH | DISEASES 9317 | PTER | DISEASES 140738 | TMEM37 | DISEASES 171558 | PTCRA | DISEASES 81029 | WNT5B | DISEASES 152002 | XXYLT1 | DISEASES 6910 | TBX5 | DISEASES 147912 | SIX5 | DISEASES 64388 | GREM2 | DISEASES 2253 | FGF8 | DISEASES 64840 | PORCN | DISEASES 4661 | MYT1 | DISEASES 222546 | RFX6 | DISEASES 5915 | RARB | DISEASES 5727 | PTCH1 | DISEASES 9939 | RBM8A | DISEASES 2138 | EYA1 | DISEASES 5015 | OTX2 | DISEASES 8481 | OFD1 | DISEASES 100506658 | OCLN | DISEASES 1969 | EPHA2 | DISEASES 157680 | VPS13B | DISEASES 55503 | TRPV6 | DISEASES 2736 | GLI2 | DISEASES 2882 | GPX7 | DISEASES 257 | ALX3 | DISEASES 1025 | CDK9 | DISEASES 8565 | YARS | DISEASES 26190 | FBXW2 | DISEASES 2245 | FGD1 | DISEASES 579 | NKX3-2 | DISEASES 5077 | PAX3 | DISEASES 5916 | RARG | DISEASES 2104 | ESRRG | DISEASES 1123 | CHN1 | DISEASES 3481 | IGF2 | DISEASES 55636 | CHD7 | DISEASES 9343 | EFTUD2 | DISEASES 387836 | CLEC2A | DISEASES 139728 | PNCK | DISEASES 4700 | NDUFA6 | DISEASES 6949 | TCOF1 | DISEASES 2972 | BRF1 | DISEASES 79104 | MEG8 | DISEASES |
Locus | (Waiting for update.) |
Disease ID | 787 |
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Disease | craniofacial microsomia |
Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:40) HP:0001643 | Persistent ductus arteriosus HP:0002089 | Hypoplastic lungs HP:0000384 | Preauricular skin tag HP:0000086 | Ectopic kidney HP:0009892 | Anotia HP:0000074 | Ureteropelvic junction obstruction HP:0000076 | Vesicoureteric reflux HP:0000568 | Abnormally small globe of eye HP:0001629 | Ventricular septal defects HP:0002085 | Occipital encephalocele HP:0001249 | Mental retardation HP:0000238 | Nonsyndromal hydrocephalus HP:0000581 | Blepharophimosis HP:0001274 | Absent corpus callosum HP:0004660 | Deficiency of facial musculature HP:0000413 | External auditory meatal atresia HP:0000636 | Upper eyelid colobomas HP:0000003 | Multicystic kidney dysplasia HP:0000407 | sensorineural hearing loss HP:0008605 | Unilateral external ear deformity HP:0000154 | Large mouth HP:0000324 | Asymmetry of face HP:0008551 | Hypoplasia of the external ear HP:0001140 | Epibulbar dermoid HP:0000528 | Absence of eyeballs HP:0000347 | Hypoplasia of mandible HP:0000327 | Maxillary micrognathia HP:0000272 | Depressed malar region HP:0000104 | Renal agenesis HP:0002308 | Chiari malformation HP:0009794 | Branchial anomalies HP:0003305 | Block vertebrae HP:0002937 | Hemivertebra HP:0000204 | Cleft upper lip HP:0000405 | Conductive hearing loss HP:0001636 | Tetrology of fallot HP:0000175 | Palatoschisis HP:0001680 | Coarctation of aorta HP:0008417 | Vertebral hypoplasia HP:0000486 | Squint eyes |
Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:7) |
Disease ID | 787 |
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Disease | craniofacial microsomia |
Manually Symptom | (Waiting for update.) |
Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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All Snps(Total Genotypes:0) | |
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GWASdb Annotation(Total Genotypes:0) | |
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GWASdb Snp Trait(Total Genotypes:0) | |
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Mapped by lexical matching(Total Items:0) |
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Mapped by homologous gene(Total Items:0) |
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Chemical(Total Drugs:0) | |
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FDA approved drug and dosage information(Total Drugs:0) | |
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FDA labeling changes(Total Drugs:0) | |
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