| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (59.0%) |
27366450 |
Glidescope Video Laryngoscope Use for Tracheal Intubation in a Patient with CHARGE Syndrome. Sarcicek V, Mzrak A, ahin M, Goksu S, Gul R, Cesur M. Turk J Anaesthesiol Reanim. 2014;42(6):352-4. |
| Micrognathia Facial paralysis | ||
| 1 (59.0%) |
9714686 |
The CHARGE association in a newborn infant. Akisu M, Ozkinay F, Ozyurek R, Kucuktas A, Kultursay N. Turk J Pediatr. 1998;40(2):283-7. |
| Facial asymmetry Micrognathia | ||
| CHD7 | ||
| Atrial Septal Defects Choanal Atresia Eye Abnormalities Homo sapiens Infant, Newborn Male Syndrome | ||
| 1 (59.0%) |
3997378 |
Choanal atresia and its associated anomalies. Further support for the CHARGE Association. Kaplan LC. Int J Pediatr Otorhinolaryngol. 1985;8(3):237-42. |
| Facial asymmetry Micrognathia | ||
| CHD7 | ||
| Central Nervous System Child, Preschool Congenital Heart Defects Females Growth Disorders Homo sapiens Infant, Newborn Syndrome | ||
| 4 (57.8%) |
19334086 |
Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome. Wieczorek D, Gener B, Gonzalez MJ, Seland S, Fischer S, Hehr U, Kuechler A, Hoefsloot LH, de Leeuw N, Gillessen-Kaesbach G, Lohmann DR. Am J Med Genet A. 2009;149A(5):837-43. |
| Microcephaly Micrognathia | ||
| CHD7 HOXA2 TCOF1 | ||
| rs387906877 rs387906878 | ||
| Choanal Atresia DNA Mutational Analysis Developmental Disabilities Females Genome-Wide Association Study Homo sapiens Infant Male Mandibulofacial Dysostosis Microcephaly Syndrome | ||
| 4 (57.8%) |
18074358 |
In utero exposure to mycophenolate mofetil: a characteristic phenotype? Perez-Aytes A, Ledo A, Boso V, Saenz P, Roma E, Poveda JL, Vento M. Am J Med Genet A. 2008;146A(1):1-7. |
| Micrognathia | ||
| Abnormalities, Drug-Induced Adult Females Homo sapiens Immunosuppressive Agents Kidney Transplantation Maternal Exposure Maternal-Fetal Exchange Phenotype Pregnancy Pregnancy Outcome Prenatal Exposure Delayed Effects Ultrasonography | ||
| 4 (57.8%) |
7849898 |
[CHARGE association]. Ben Becher S, Ganouni S, Cheour M, Bouaziz A, Boudhina T. Arch Pediatr. 1994;1(12):1115-7. |
| Micrognathia | ||
| Choanal Atresia External Ear Homo sapiens Infant Male Micrognathism Microphthalmos Syndrome | ||
| 7 (52.0%) |
9028454 |
Limb anomalies in DiGeorge and CHARGE syndromes. Prasad C, Quackenbush EJ, Whiteman D, Korf B. Am J Med Genet. 1997;68(2):179-81. |
| Facial palsy Finger clinodactyly | ||
| Choanal Atresia Chromosomes, Human, Pair 22 Congenital Heart Defects DiGeorge Syndrome Ectromelia Females Fluorescent in Situ Hybridization Genitalia Growth Disorders Homo sapiens Infant, Newborn Limb Deformities, Congenital Male Sequence Deletion Syndactyly | ||
| 8 (45.4%) |
19921384 |
Successful airway management with use of a laryngeal mask airway in a patient with CHARGE syndrome. Hara Y, Hirota K, Fukuda K. J Anesth. 2009;23(4):630-2. |
| Glossoptosis Retrognathia | ||
| Child Choanal Atresia Deafness General Anesthesia Genital Diseases, Male Growth Disorders Homo sapiens Laryngeal Masks Male Syndrome | ||
| 9 (42.7%) |
9262806 |
CHARGE syndrome: review of literature and report of case. Coloboma, heart disease, atresia of choanae, retarded mental development, genital hypoplasia, ear abnormalities-deafness. Grimm SE 3rd, Thomas GP, White MJ. ASDC J Dent Child. 1997;64(3):218-21, 228. |
| Retrognathia | ||
| Child, Preschool Crowns Dental Amalgam Females General Anesthesia Homo sapiens Mandible Radiography, Bitewing Tooth Abnormalities | ||
| 10 (41.0%) |
16676864 |
Cecal volvulus in a child with CHARGE syndrome. Lai HS, Feng CY. Am Surg. 2006;72(4):356-8. |
| Hernia Cleft lip | ||
| Cecum Child Choanal Atresia Homo sapiens Intestinal Volvulus Male Syndrome Ventricular Septal Defects |
Total: 88
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000028 | Cryptorchidism | Very frequent (99-80%) |
| HP:0000044 | Hypogonadotrophic hypogonadism | Very frequent (99-80%) |
| HP:0000054 | Micropenis | Very frequent (99-80%) |
| HP:0000359 | Abnormality of the inner ear | Very frequent (99-80%) |
| HP:0000365 | Hearing impairment | Very frequent (99-80%) |
| HP:0000396 | Overfolded helix | Very frequent (99-80%) |
| HP:0000458 | Anosmia | Very frequent (99-80%) |
| HP:0000612 | Iris coloboma | Very frequent (99-80%) |
| HP:0000823 | Delayed puberty | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001291 | Abnormal cranial nerve morphology | Very frequent (99-80%) |
| HP:0008572 | External ear malformation | Very frequent (99-80%) |
| HP:0008872 | Feeding difficulties in infancy | Very frequent (99-80%) |
| HP:0009906 | Aplasia/Hypoplasia of the earlobes | Very frequent (99-80%) |
| HP:0011382 | Hypoplasia of the semicircular canal | Very frequent (99-80%) |
| HP:0000008 | Abnormality of female internal genitalia | Frequent (79-30%) |
| HP:0000048 | Bifid scrotum | Frequent (79-30%) |
| HP:0000066 | Labial hypoplasia | Frequent (79-30%) |
| HP:0000160 | Narrow mouth | Frequent (79-30%) |
| HP:0000175 | Cleft palate | Frequent (79-30%) |
| HP:0000204 | Cleft upper lip | Frequent (79-30%) |
| HP:0000275 | Narrow face | Frequent (79-30%) |
| HP:0000324 | Facial asymmetry | Frequent (79-30%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Frequent (79-30%) |
| HP:0000453 | Choanal atresia | Frequent (79-30%) |
| HP:0000486 | Strabismus | Frequent (79-30%) |
| HP:0000508 | Ptosis | Frequent (79-30%) |
| HP:0000528 | Anophthalmia | Frequent (79-30%) |
| HP:0000567 | Chorioretinal coloboma | Frequent (79-30%) |
| HP:0000568 | Microphthalmia | Frequent (79-30%) |
| HP:0000639 | Nystagmus | Frequent (79-30%) |
| HP:0000648 | Optic atrophy | Frequent (79-30%) |
| HP:0000684 | Delayed eruption of teeth | Frequent (79-30%) |
| HP:0000717 | Autism | Frequent (79-30%) |
| HP:0000722 | Obsessive-compulsive behavior | Frequent (79-30%) |
| HP:0000830 | Anterior hypopituitarism | Frequent (79-30%) |
| HP:0001249 | Intellectual disability | Frequent (79-30%) |
| HP:0001252 | Muscular hypotonia | Frequent (79-30%) |
| HP:0001561 | Polyhydramnios | Frequent (79-30%) |
| HP:0001636 | Tetralogy of Fallot | Frequent (79-30%) |
| HP:0001643 | Patent ductus arteriosus | Frequent (79-30%) |
| HP:0001646 | Abnormal aortic valve morphology | Frequent (79-30%) |
| HP:0001671 | Abnormal cardiac septum morphology | Frequent (79-30%) |
| HP:0002020 | Gastroesophageal reflux | Frequent (79-30%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0005113 | Aortic arch aneurysm | Frequent (79-30%) |
| HP:0005280 | Depressed nasal bridge | Frequent (79-30%) |
| HP:0007018 | Attention deficit hyperactivity disorder | Frequent (79-30%) |
| HP:0008897 | Postnatal growth retardation | Frequent (79-30%) |
| HP:0010628 | Facial palsy | Frequent (79-30%) |
| HP:0010751 | Dimple chin | Frequent (79-30%) |
| HP:0011611 | Interrupted aortic arch | Frequent (79-30%) |
| HP:0100736 | Abnormal soft palate morphology | Frequent (79-30%) |
| HP:0000076 | Vesicoureteral reflux | Occasional (29-5%) |
| HP:0000085 | Horseshoe kidney | Occasional (29-5%) |
| HP:0000126 | Hydronephrosis | Occasional (29-5%) |
| HP:0000252 | Microcephaly | Occasional (29-5%) |
| HP:0000286 | Epicanthus | Occasional (29-5%) |
| HP:0000316 | Hypertelorism | Occasional (29-5%) |
| HP:0000384 | Preauricular skin tag | Occasional (29-5%) |
| HP:0000478 | Abnormality of the eye | Occasional (29-5%) |
| HP:0000504 | Abnormality of vision | Occasional (29-5%) |
| HP:0000625 | Eyelid coloboma | Occasional (29-5%) |
| HP:0000632 | Lacrimation abnormality | Occasional (29-5%) |
| HP:0000772 | Abnormality of the ribs | Occasional (29-5%) |
| HP:0000834 | Abnormality of the adrenal glands | Occasional (29-5%) |
| HP:0001156 | Brachydactyly | Occasional (29-5%) |
| HP:0001305 | Dandy-Walker malformation | Occasional (29-5%) |
| HP:0001360 | Holoprosencephaly | Occasional (29-5%) |
| HP:0001511 | Intrauterine growth retardation | Occasional (29-5%) |
| HP:0001601 | Laryngomalacia | Occasional (29-5%) |
| HP:0001883 | Talipes | Occasional (29-5%) |
| HP:0002093 | Respiratory insufficiency | Occasional (29-5%) |
| HP:0002410 | Aqueductal stenosis | Occasional (29-5%) |
| HP:0002553 | Highly arched eyebrow | Occasional (29-5%) |
| HP:0002575 | Tracheoesophageal fistula | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002937 | Hemivertebrae | Occasional (29-5%) |
| HP:0002992 | Abnormality of tibia morphology | Occasional (29-5%) |
| HP:0004209 | Clinodactyly of the 5th finger | Occasional (29-5%) |
| HP:0004348 | Abnormality of bone mineral density | Occasional (29-5%) |
| HP:0006824 | Cranial nerve paralysis | Occasional (29-5%) |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | Occasional (29-5%) |
| HP:0008551 | Microtia | Occasional (29-5%) |
| HP:0010443 | Bifid femur | Occasional (29-5%) |
| HP:0010669 | Hypoplasia of the zygomatic bone | Occasional (29-5%) |
| HP:0010978 | Abnormality of immune system physiology | Occasional (29-5%) |
Total: 86
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000589 | Coloboma | 45 |
| HP:0000135 | Hypogonadism | 5 |
| HP:0011968 | Feeding difficulties | 4 |
| HP:0002023 | Anal atresia | 3 |
| HP:0002650 | Scoliosis | 3 |
| HP:0002721 | Immunodeficiency | 3 |
| HP:0000028 | Cryptorchidism | 2 |
| HP:0000044 | Hypogonadotrophic hypogonadism | 2 |
| HP:0000054 | Micropenis | 2 |
| HP:0000541 | Retinal detachment | 2 |
| HP:0000612 | Iris coloboma | 2 |
| HP:0000717 | Autism | 2 |
| HP:0001321 | Cerebellar hypoplasia | 2 |
| HP:0001629 | Ventricular septal defect | 2 |
| HP:0002015 | Dysphagia | 2 |
| HP:0002311 | Incoordination | 2 |
| HP:0002575 | Tracheoesophageal fistula | 2 |
| HP:0002835 | Aspiration | 2 |
| HP:0007209 | Facial paralysis | 2 |
| HP:0040075 | Hypopituitarism | 2 |
| HP:0410030 | Cleft lip | 2 |
| HP:0000076 | Vesicoureteral reflux | 1 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000316 | Hypertelorism | 1 |
| HP:0000324 | Facial asymmetry | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000365 | Hearing impairment | 1 |
| HP:0000369 | Low-set ears | 1 |
| HP:0000405 | Conductive hearing impairment | 1 |
| HP:0000458 | Anosmia | 1 |
| HP:0000501 | Glaucoma | 1 |
| HP:0000509 | Conjunctivitis | 1 |
| HP:0000528 | Anophthalmia | 1 |
| HP:0000568 | Microphthalmia | 1 |
| HP:0000573 | Retinal hemorrhage | 1 |
| HP:0000577 | Exotropia | 1 |
| HP:0000582 | Upslanted palpebral fissure | 1 |
| HP:0000588 | Optic nerve coloboma | 1 |
| HP:0000598 | Abnormality of the ear | 1 |
| HP:0000768 | Pectus carinatum | 1 |
| HP:0000786 | Primary amenorrhea | 1 |
| HP:0000823 | Delayed puberty | 1 |
| HP:0000825 | Hyperinsulinemic hypoglycemia | 1 |
| HP:0000969 | Edema | 1 |
| HP:0001019 | Erythroderma | 1 |
| HP:0001144 | Orbital cyst | 1 |
| HP:0001305 | Dandy-Walker malformation | 1 |
| HP:0001433 | Hepatosplenomegaly | 1 |
| HP:0001510 | Growth delay | 1 |
| HP:0001643 | Patent ductus arteriosus | 1 |
| HP:0001710 | Conotruncal defect | 1 |
| HP:0001751 | Vestibular dysfunction | 1 |
| HP:0001888 | Lymphopenia | 1 |
| HP:0002098 | Respiratory distress | 1 |
| HP:0002104 | Apnea | 1 |
| HP:0002119 | Ventriculomegaly | 1 |
| HP:0002435 | Meningocele | 1 |
| HP:0002580 | Volvulus | 1 |
| HP:0002715 | Abnormality of the immune system | 1 |
| HP:0002716 | Lymphadenopathy | 1 |
| HP:0002808 | Kyphosis | 1 |
| HP:0002901 | Hypocalcemia | 1 |
| HP:0003691 | Scapular winging | 1 |
| HP:0004947 | Arteriovenous fistula | 1 |
| HP:0008213 | Gonadotropin deficiency | 1 |
| HP:0008633 | Agonadism | 1 |
| HP:0008689 | Bilateral cryptorchidism | 1 |
| HP:0010627 | Anterior pituitary hypoplasia | 1 |
| HP:0010628 | Facial palsy | 1 |
| HP:0010775 | Vascular ring | 1 |
| HP:0011381 | Aplasia of the semicircular canal | 1 |
| HP:0011571 | Parachute mitral valve | 1 |
| HP:0011590 | Double aortic arch | 1 |
| HP:0011613 | Interrupted aortic arch type B | 1 |
| HP:0012246 | Oculomotor nerve palsy | 1 |
| HP:0012366 | Basilar invagination | 1 |
| HP:0012385 | Camptodactyly | 1 |
| HP:0012503 | Abnormality of the pituitary gland | 1 |
| HP:0025356 | Psychomotor retardation | 1 |
| HP:0030853 | Heterotaxy | 1 |
| HP:0031002 | Neuritis | 1 |
| HP:0031526 | Subretinal fluid | 1 |
| HP:0031864 | Bacteremia | 1 |
| HP:0040019 | Finger clinodactyly | 1 |
| HP:0100584 | Endocarditis | 1 |
| HP:0100790 | Hernia | 1 |