| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (65.7%) |
7341641 |
Trisomy 7 mosaicism and manifestations of Goldenhar syndrome with unilateral radial hypoplasia. Hodes ME, Gleiser S, DeRosa GP, Yune HY, Girod DA, Weaver DD, Palmer CG. J Craniofac Genet Dev Biol. 1981;1(1):49-55. |
| Facial asymmetry Absent thumb Bifid tongue | ||
| Child Chromosomes, Human, 6-12 and X Females Goldenhar Syndrome Homo sapiens Mandibulofacial Dysostosis Mosaicism Trisomy | ||
| 2 (60.5%) |
30534489 (6250477) |
Functional Temporomandibular Joint Reconstruction in Costochondral Grafting of Micrognathia. Hirota Y, Ueda K, Katayama M, Otsuki Y. Plast Reconstr Surg Glob Open. 2018;6(10):e1925. |
| Glossoptosis Micrognathia | ||
| 3 (60.4%) |
18629878 |
Pierre Robin sequence associated with first trimester fetal tamoxifen exposure. Berger JC, Clericuzio CL. Am J Med Genet A. 2008;146A(16):2141-4. |
| Pierre-Robin sequence Micrognathia | ||
| Abnormalities, Drug-Induced Females Homo sapiens Infant, Newborn Male Maternal Exposure Pierre Robin Syndrome Pregnancy Pregnancy Trimester, First Prenatal Exposure Delayed Effects | ||
| 3 (60.4%) |
9633164 |
Non-surgical treatment of upper airway obstruction in oculoauriculovertebral dysplasia: a case report. Stellzig A, Basdra EK, Sontheimer D, Komposch G. Eur J Orthod. 1998;20(2):111-4. |
| Pierre-Robin sequence Micrognathia | ||
| Airway Obstruction Dental Care for Chronically Ill Females Goldenhar Syndrome Homo sapiens Infant Occlusal Splints | ||
| 5 (59.0%) |
27329096 |
Goldenhar syndrome: a rare diagnosis with possible prenatal findings. Ribeiro B, Igreja J, Goncalves-Rocha M, Cadilhe A. BMJ Case Rep. 2016;2016:. |
| Micrognathia Hemifacial hypoplasia | ||
| Females Fetal Diseases Genetic Counseling Goldenhar Syndrome Homo sapiens Pregnancy | ||
| 6 (57.8%) |
28302228 |
Anaesthetic Management in a Child with Goldenhar Syndrome. Khan WA, Salim B, Khan AA, Chughtai S. J Coll Physicians Surg Pak. 2017;27(3):S6-S7. |
| Micrognathia | ||
| Airway Management Anesthetics Child Goldenhar Syndrome Homo sapiens Magnetic Resonance Imaging Male X-Ray Computed Tomography | ||
| 6 (57.8%) |
24605928 |
Atypical expanded-spectrum hemifacial microsomia: a case report. Magge KT, Kim J, Rogers GF, Oh AK. Cleft Palate Craniofac J. 2015;52(2):240-5. |
| Micrognathia | ||
| Females Goldenhar Syndrome Homo sapiens Infant, Newborn | ||
| 6 (57.8%) |
23905414 |
[Tracheal intubation using Airtraq optical laryngoscope in an adult patient with Goldenhar syndrome]. Sasanuma H, Niwa Y, Shimada N, Machida M, Irei T, Hayashi K, Takeuchi M. Masui. 2013;62(7):867-9. |
| Trismus Micrognathia | ||
| Females Goldenhar Syndrome Homo sapiens Intubation, Intratracheal Laryngoscopes Tympanoplasty Young Adult | ||
| 6 (57.8%) |
18583796 |
Goldenhar syndrome with unusual features. Mehta B, Nayak C, Savant S, Amladi S. Indian J Dermatol Venereol Leprol. 2008;74(3):254-6. |
| Micrognathia | ||
| Dermoid Cyst Ectopic Tissue Eye Neoplasms Females Gingival Hypertrophy Goldenhar Syndrome Homo sapiens Palate Tooth Abnormalities | ||
| 6 (57.8%) |
16532152 |
Monozygotic twins discordant for Goldenhar syndrome. Verona LL, Damian NG, Pavarina LP, Ferreira CH, Melo DG. J Pediatr (Rio J). 2006;82(1):75-8. |
| Micrognathia | ||
| Apgar Score Diseases in Twins Females Goldenhar Syndrome Homo sapiens Infant, Newborn Preterm Infant |
Total: 44
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000272 | Malar flattening | Very frequent (99-80%) |
| HP:0000324 | Facial asymmetry | Very frequent (99-80%) |
| HP:0000327 | Hypoplasia of the maxilla | Very frequent (99-80%) |
| HP:0000365 | Hearing impairment | Very frequent (99-80%) |
| HP:0000384 | Preauricular skin tag | Very frequent (99-80%) |
| HP:0000175 | Cleft palate | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000359 | Abnormality of the inner ear | Frequent (79-30%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Frequent (79-30%) |
| HP:0000370 | Abnormality of the middle ear | Frequent (79-30%) |
| HP:0000413 | Atresia of the external auditory canal | Frequent (79-30%) |
| HP:0001140 | Limbal dermoid | Frequent (79-30%) |
| HP:0002167 | Neurological speech impairment | Frequent (79-30%) |
| HP:0003305 | Block vertebrae | Frequent (79-30%) |
| HP:0008417 | Vertebral hypoplasia | Frequent (79-30%) |
| HP:0008551 | Microtia | Frequent (79-30%) |
| HP:0008605 | Unilateral external ear deformity | Frequent (79-30%) |
| HP:0008872 | Feeding difficulties in infancy | Frequent (79-30%) |
| HP:0100335 | Non-midline cleft lip | Frequent (79-30%) |
| HP:0000086 | Ectopic kidney | Occasional (29-5%) |
| HP:0000104 | Renal agenesis | Occasional (29-5%) |
| HP:0000154 | Wide mouth | Occasional (29-5%) |
| HP:0000505 | Visual impairment | Occasional (29-5%) |
| HP:0000528 | Anophthalmia | Occasional (29-5%) |
| HP:0000568 | Microphthalmia | Occasional (29-5%) |
| HP:0000600 | Abnormality of the pharynx | Occasional (29-5%) |
| HP:0000636 | Upper eyelid coloboma | Occasional (29-5%) |
| HP:0000717 | Autism | Occasional (29-5%) |
| HP:0000772 | Abnormality of the ribs | Occasional (29-5%) |
| HP:0001249 | Intellectual disability | Occasional (29-5%) |
| HP:0001252 | Muscular hypotonia | Occasional (29-5%) |
| HP:0001274 | Agenesis of corpus callosum | Occasional (29-5%) |
| HP:0001601 | Laryngomalacia | Occasional (29-5%) |
| HP:0001629 | Ventricular septal defect | Occasional (29-5%) |
| HP:0001636 | Tetralogy of Fallot | Occasional (29-5%) |
| HP:0002089 | Pulmonary hypoplasia | Occasional (29-5%) |
| HP:0002119 | Ventriculomegaly | Occasional (29-5%) |
| HP:0002120 | Cerebral cortical atrophy | Occasional (29-5%) |
| HP:0002575 | Tracheoesophageal fistula | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002779 | Tracheomalacia | Occasional (29-5%) |
| HP:0002937 | Hemivertebrae | Occasional (29-5%) |
| HP:0004322 | Short stature | Occasional (29-5%) |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | Occasional (29-5%) |
Total: 80
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001140 | Limbal dermoid | 7 |
| HP:0000589 | Coloboma | 4 |
| HP:0000384 | Preauricular skin tag | 3 |
| HP:0000324 | Facial asymmetry | 2 |
| HP:0000347 | Micrognathia | 2 |
| HP:0000636 | Upper eyelid coloboma | 2 |
| HP:0001629 | Ventricular septal defect | 2 |
| HP:0002410 | Aqueductal stenosis | 2 |
| HP:0002781 | Upper airway obstruction | 2 |
| HP:0010297 | Bifid tongue | 2 |
| HP:0010609 | Skin tags | 2 |
| HP:0012032 | Lipoma | 2 |
| HP:0025247 | Dermoid cyst | 2 |
| HP:0000016 | Urinary retention | 1 |
| HP:0000023 | Inguinal hernia | 1 |
| HP:0000062 | Ambiguous genitalia | 1 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000252 | Microcephaly | 1 |
| HP:0000316 | Hypertelorism | 1 |
| HP:0000369 | Low-set ears | 1 |
| HP:0000483 | Astigmatism | 1 |
| HP:0000491 | Keratitis | 1 |
| HP:0000501 | Glaucoma | 1 |
| HP:0000526 | Aniridia | 1 |
| HP:0000528 | Anophthalmia | 1 |
| HP:0000565 | Esotropia | 1 |
| HP:0000568 | Microphthalmia | 1 |
| HP:0000581 | Blepharophimosis | 1 |
| HP:0000602 | Ophthalmoplegia | 1 |
| HP:0000609 | Optic nerve hypoplasia | 1 |
| HP:0000639 | Nystagmus | 1 |
| HP:0000656 | Ectropion | 1 |
| HP:0000821 | Hypothyroidism | 1 |
| HP:0000824 | Growth hormone deficiency | 1 |
| HP:0001028 | Hemangioma | 1 |
| HP:0001097 | Keratoconjunctivitis sicca | 1 |
| HP:0001357 | Plagiocephaly | 1 |
| HP:0001545 | Anteriorly placed anus | 1 |
| HP:0001601 | Laryngomalacia | 1 |
| HP:0001643 | Patent ductus arteriosus | 1 |
| HP:0001742 | Nasal obstruction | 1 |
| HP:0001920 | Renal artery stenosis | 1 |
| HP:0002013 | Vomiting | 1 |
| HP:0002014 | Diarrhea | 1 |
| HP:0002015 | Dysphagia | 1 |
| HP:0002084 | Encephalocele | 1 |
| HP:0002089 | Pulmonary hypoplasia | 1 |
| HP:0002094 | Dyspnea | 1 |
| HP:0002575 | Tracheoesophageal fistula | 1 |
| HP:0002650 | Scoliosis | 1 |
| HP:0002652 | Skeletal dysplasia | 1 |
| HP:0002835 | Aspiration | 1 |
| HP:0002870 | Obstructive sleep apnea | 1 |
| HP:0002948 | Vertebral fusion | 1 |
| HP:0004590 | Hypoplastic sacrum | 1 |
| HP:0004755 | Supraventricular tachycardia | 1 |
| HP:0005758 | Basilar impression | 1 |
| HP:0005815 | Supernumerary ribs | 1 |
| HP:0006888 | Meningoencephalocele | 1 |
| HP:0010442 | Polydactyly | 1 |
| HP:0010566 | Hamartoma | 1 |
| HP:0010628 | Facial palsy | 1 |
| HP:0010669 | Hypoplasia of the zygomatic bone | 1 |
| HP:0010772 | Anomalous pulmonary venous return | 1 |
| HP:0010775 | Vascular ring | 1 |
| HP:0011480 | Unilateral microphthalmos | 1 |
| HP:0011611 | Interrupted aortic arch | 1 |
| HP:0011835 | Absent scaphoid | 1 |
| HP:0011968 | Feeding difficulties | 1 |
| HP:0012097 | Intracranial dermoid cyst | 1 |
| HP:0020041 | Double elevator palsy | 1 |
| HP:0030707 | Unilateral lung agenesis | 1 |
| HP:0031625 | Pseudoaneurysm | 1 |
| HP:0100021 | Cerebral palsy | 1 |
| HP:0100258 | Preaxial polydactyly | 1 |
| HP:0100687 | Polyotia | 1 |
| HP:0100703 | Tongue thrusting | 1 |
| HP:0100817 | Renovascular hypertension | 1 |
| HP:0200055 | Small hand | 1 |
| HP:0500041 | Myopic astigmatism | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|