| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 21 (40.2%) |
17245565 |
Persistent torticollis, facial asymmetry, grooved tongue, and dolicho-odontoid process in connection with atlas malformation complex in three family subjects. Al Kaissi A, Ben Chehida F, Gharbi H, Ben Ghachem M, Grill F, Varga F, Klaushofer K. Eur Spine J. 2007;16 Suppl 3:265-70. |
| Facial asymmetry Plagiocephaly | ||
| FANCC | ||
| Adult Cervical Atlas Child, Preschool Females Homo sapiens Magnetic Resonance Imaging Male Spina Bifida Spinal Fractures Syndrome Tongue Torticollis X-Ray Computed Tomography | ||
| 22 (39.6%) |
25514664 |
Upper Eyelid Coloboma Repair Using Accessory Preauricular Cartilage in a Patient With Goldenhar Syndrome: Technique Revisited. Sinkin JC, Yi S, Wood BC, Kwon S, Gavaris LZ, Gavaris PT, Rogers GF, Sauerhammer TM. Ophthalmic Plast Reconstr Surg. 2017;33(1):e4-e7. |
| Upper eyelid coloboma | ||
| Goldenhar Syndrome Homo sapiens Infant, Newborn Male | ||
| 22 (39.6%) |
19783022 |
Epicorneal polypoidal lipodermoid: lack of association of central corneal lesions with goldenhar syndrome verified with a review of the literature. Jakobiec FA, Pineda R, Rivera R, Hsu-Winges C, Cherwek D. Surv Ophthalmol. 2010;55(1):78-84. |
| Coloboma Upper eyelid coloboma | ||
| CD1A | ||
| Corneal Diseases Dermoid Cyst Eye Neoplasms Goldenhar Syndrome Homo sapiens Infant Male | ||
| 24 (39.0%) |
29138704 (5613448) |
Caudal Regression and Encephalocele: Rare Manifestations of Expanded Goldenhar Complex. D'Angelo G, Marseglia L, Aversa S, Manti S, Cuppari C, Cutrupi M, Salpietro C, Gitto E. Case Rep Pediatr. 2017;2017:4396142. |
| Encephalocele | ||
| 24 (39.0%) |
12823300 |
Encephalocraniocutaneous lipomatosis (Haberland syndrome) with bilateral cutaneous and visceral involvement. Rubegni P, Risulo M, Sbano P, Buonocore G, Perrone S, Fimiani M. Clin Exp Dermatol. 2003;28(4):387-90. |
| Cranial asymmetry | ||
| Biopsy Conjunctival Diseases Differential Diagnosis Eyelid Diseases Females Hamartoma Syndrome, Multiple Homo sapiens Infant, Newborn Lipomatosis Magnetic Resonance Imaging Neurocutaneous Syndromes Scalp Dermatoses | ||
| 24 (39.0%) |
12206491 |
Goldenhar's syndrome associated with occipital meningoencephalocele--case report. Kita D, Munemoto S, Ueno Y, Fukuda A. Neurol Med Chir (Tokyo). 2002;42(8):354-5. |
| Meningoencephalocele | ||
| Adult Fatal Outcome Females Follow-Up Studies Goldenhar Syndrome Homo sapiens Imaging, Three-Dimensional Infant Infant, Newborn Magnetic Resonance Imaging Male Pregnancy Ultrasonography, Prenatal X-Ray Computed Tomography | ||
| 24 (39.0%) |
8115504 |
Cervicovertebral anomalies and basilar impression in Goldenhar syndrome. Gosain AK, McCarthy JG, Pinto RS. Plast Reconstr Surg. 1994;93(3):498-506. |
| Basilar impression | ||
| Adult Cephalometry Cervical Atlas Cervical Vertebrae Child Child, Preschool Goldenhar Syndrome Homo sapiens Infant Male | ||
| 24 (39.0%) |
6859095 |
Cranial defects in the Goldenhar syndrome. Wilson GN. Am J Med Genet. 1983;14(3):435-43. |
| Microcephaly | ||
| Brain Females Goldenhar Syndrome Homo sapiens Infant, Newborn Male Mandibulofacial Dysostosis | ||
| 24 (39.0%) |
6674411 |
[Fronto-nasal dysplasia (apropos of 4 cases)]. Fontaine G, Walbaum R, Poupard B, Bonte C, Dhellemmes P, Maquet E, Ythier H, Stevenard C. J Genet Hum. 1983;31 Suppl 5:351-65. |
| Cranium bifidum occultum | ||
| Child Child, Preschool Cleft Palate Females Forehead Homo sapiens Jaw Abnormalities Male Nose Syndrome | ||
| 30 (38.6%) |
10829494 |
[Goldenhar syndrome: a polymalformation syndrome with conductive hearing loss]. Santa Cruz Ruiz S, Aguirre Garcia F, Perez Plasencia D, Blanco Perez P, Guillen Guerrero V, Del Canizo Alvarez A. An Otorrinolaringol Ibero Am. 2000;27(2):161-7. |
| Facial asymmetry Scoliosis | ||
| Child Females Goldenhar Syndrome Homo sapiens Ossicular Prosthesis Implantation Severity of Illness Index |
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 |
|---|