| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (55.1%) |
31008521 |
Orthopedic and orthodontic management in a patient with DiGeorge Syndrome and Familial Mediterranean Fever: A case report. Cazzolla AP, Lacaita MG, Lacarbonara V, Zhurakivska K, De Franco A, Gissi I, Testa NF, Marzo G, Lo Muzio L. Spec Care Dentist. 2019;39(3):340-347. |
| Hepatosplenomegaly Normocytic anemia Fever | ||
| EPO MEFV | ||
| Amyloidosis Child DiGeorge Syndrome Familial Mediterranean Fever Homo sapiens Male Marfan Syndrome Pyrin | ||
| 2 (48.7%) |
12093990 |
Intravenous ribavirin treatment for severe adenovirus disease in immunocompromised children. Gavin PJ, Katz BZ. Pediatrics. 2002;110(1 Pt 1):e9. |
| Anemia Fever Hepatitis | ||
| Adenovirus Infections Antiviral Agents Fatal Outcome Females Homo sapiens Immunocompromised Host Infant, Newborn Intravenous Injections Male Retrospective Studies Severity of Illness Index | ||
| 3 (43.8%) |
27987519 |
[Autoimmune disorder secondary to DiGeorge syndrome: a long-term follow-up case report and literature review]. Xie Y, Guo JQ, Hua Y, Zhao WH, Sun Q, Lu XT. Beijing Da Xue Xue Bao Yi Xue Ban. 2016;48(6):1086-1089. |
| Hypoplasia of the thymus Anemia Hypocalcemia | ||
| Anemia Autoimmune Diseases Cleft Palate Congenital Heart Defects DiGeorge Syndrome Face Females Follow-Up Studies Homo sapiens Learning Disabilities T-Lymphocyte Thrombocytopenia | ||
| 4 (38.2%) |
11845029 |
[Pseudohypoparathyroidism or hypoparathyroidism? A misleading clinical presentation]. Derrien C, Odent S, Henry C, De La Villemarque R, Poirier JY, Maugendre D. Ann Endocrinol (Paris). 2001;62(6):529-33. |
| Purpura Hypocalcemia | ||
| DGCR PTH | ||
| Adult Chromosome Deletion Chromosomes, Human, Pair 22 Differential Diagnosis Face Females Fluorescent in Situ Hybridization Homo sapiens Hypercalcemia Hypoparathyroidism Infant, Newborn Intellectual Disability Obesity Phenotype Pregnancy Pregnancy Complications Pseudohypoparathyroidism Syndrome Velopharyngeal Insufficiency | ||
| 5 (34.0%) |
12892170 |
Epstein-Barr virus-associated haemophagocytic lymphohistiocytosis in Wiskott-Aldrich syndrome. Pasic S, Micic D, Kuzmanovic M. Acta Paediatr. 2003;92(7):859-61. |
| Splenomegaly Fever | ||
| Child, Preschool Epstein-Barr Virus Infections Hepatomegaly Histiocytosis, Non-Langerhans-Cell Homo sapiens Immunoglobulin M Male Splenomegaly Wiskott-Aldrich Syndrome | ||
| 6 (33.5%) |
12111192 |
Auto-immune pancytopenia in a child with DiGeorge syndrome. Bruno B, Barbier C, Lambilliotte A, Rey C, Turck D. Eur J Pediatr. 2002;161(7):390-2. |
| Velopharyngeal insufficiency Acrocyanosis Pancytopenia Immunodeficiency | ||
| CD4 CD8A | ||
| Autoimmune Diseases Child Chromosomes, Human, Pair 22 DiGeorge Syndrome Females Follow-Up Studies Gene Deletion Health Risk Assessment Homo sapiens Pancytopenia Severity of Illness Index | ||
| 7 (32.8%) |
22978387 |
Clinical and immunophenotypic features of atypical complete DiGeorge syndrome. Vu QV, Wada T, Toma T, Tajima H, Maeda M, Tanaka R, Oh-Ishi T, Yachie A. Pediatr Int. 2013;55(1):2-6. |
| Eosinophilia Lymphadenopathy Oligoclonal T cell expansion | ||
| TRBV20OR9-2 | ||
| Biological Markers DiGeorge Syndrome Flow Cytometry Homo sapiens Infant, Newborn Male T-Lymphocyte alpha-beta T-Cell Receptor | ||
| 8 (32.0%) |
21792043 |
Autoimmune thrombocytopenic purpura in partial DiGeorge syndrome: case presentation. Hernandez-Nieto L, Yamazaki-Nakashimada MA, Lieberman-Hernandez E, Espinosa-Padilla SE. J Pediatr Hematol Oncol. 2011;33(6):465-6. |
| Purpura | ||
| Chromosome Deletion DiGeorge Syndrome Females Homo sapiens | ||
| 8 (32.0%) |
9098482 |
Idiopathic thrombocytopenic purpura in two mothers of children with DiGeorge sequence: a new component manifestation of deletion 22q11? Levy A, Michel G, Lemerrer M, Philip N. Am J Med Genet. 1997;69(4):356-9. |
| Purpura | ||
| Adult Child Chromosome Deletion Chromosomes, Human, Pair 22 DiGeorge Syndrome Females Fluorescent in Situ Hybridization Homo sapiens Male | ||
| 10 (28.4%) |
8942031 |
Absent pulmonary valve syndrome associated with DiGeorge syndrome: report of one case. Liang CD, Chang JP, Chang WC. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1996;37(5):361-3. |
| Cyanosis Pneumonia Hypocalcemia | ||
| DiGeorge Syndrome Females Homo sapiens Infant |
Total: 131
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000175 | Cleft palate | Very frequent (99-80%) |
| HP:0000286 | Epicanthus | Very frequent (99-80%) |
| HP:0000369 | Low-set ears | Very frequent (99-80%) |
| HP:0000405 | Conductive hearing impairment | Very frequent (99-80%) |
| HP:0000414 | Bulbous nose | Very frequent (99-80%) |
| HP:0000426 | Prominent nasal bridge | Very frequent (99-80%) |
| HP:0000431 | Wide nasal bridge | Very frequent (99-80%) |
| HP:0000506 | Telecanthus | Very frequent (99-80%) |
| HP:0000582 | Upslanted palpebral fissure | Very frequent (99-80%) |
| HP:0000600 | Abnormality of the pharynx | Very frequent (99-80%) |
| HP:0000778 | Hypoplasia of the thymus | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001611 | Nasal speech | Very frequent (99-80%) |
| HP:0001629 | Ventricular septal defect | Very frequent (99-80%) |
| HP:0001631 | Atrial septal defect | Very frequent (99-80%) |
| HP:0001636 | Tetralogy of Fallot | Very frequent (99-80%) |
| HP:0001641 | Abnormal pulmonary valve morphology | Very frequent (99-80%) |
| HP:0001660 | Truncus arteriosus | Very frequent (99-80%) |
| HP:0001999 | Abnormal facial shape | Very frequent (99-80%) |
| HP:0002357 | Dysphasia | Very frequent (99-80%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Very frequent (99-80%) |
| HP:0002691 | Platybasia | Very frequent (99-80%) |
| HP:0002721 | Immunodeficiency | Very frequent (99-80%) |
| HP:0012303 | Abnormal aortic arch morphology | Very frequent (99-80%) |
| HP:0000089 | Renal hypoplasia | Frequent (79-30%) |
| HP:0000164 | Abnormality of the dentition | Frequent (79-30%) |
| HP:0000272 | Malar flattening | Frequent (79-30%) |
| HP:0000276 | Long face | Frequent (79-30%) |
| HP:0000343 | Long philtrum | Frequent (79-30%) |
| HP:0000365 | Hearing impairment | Frequent (79-30%) |
| HP:0000385 | Small earlobe | Frequent (79-30%) |
| HP:0000389 | Chronic otitis media | Frequent (79-30%) |
| HP:0000396 | Overfolded helix | Frequent (79-30%) |
| HP:0000470 | Short neck | Frequent (79-30%) |
| HP:0000492 | Abnormal eyelid morphology | Frequent (79-30%) |
| HP:0000508 | Ptosis | Frequent (79-30%) |
| HP:0000627 | Posterior embryotoxon | Frequent (79-30%) |
| HP:0000670 | Carious teeth | Frequent (79-30%) |
| HP:0000829 | Hypoparathyroidism | Frequent (79-30%) |
| HP:0000929 | Abnormal skull morphology | Frequent (79-30%) |
| HP:0001051 | Seborrheic dermatitis | Frequent (79-30%) |
| HP:0001061 | Acne | Frequent (79-30%) |
| HP:0001166 | Arachnodactyly | Frequent (79-30%) |
| HP:0001256 | Intellectual disability, mild | Frequent (79-30%) |
| HP:0001263 | Global developmental delay | Frequent (79-30%) |
| HP:0001281 | Tetany | Frequent (79-30%) |
| HP:0001328 | Specific learning disability | Frequent (79-30%) |
| HP:0002019 | Constipation | Frequent (79-30%) |
| HP:0002435 | Meningocele | Frequent (79-30%) |
| HP:0002901 | Hypocalcemia | Frequent (79-30%) |
| HP:0003326 | Myalgia | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0005435 | Impaired T cell function | Frequent (79-30%) |
| HP:0007018 | Attention deficit hyperactivity disorder | Frequent (79-30%) |
| HP:0007271 | Occipital myelomeningocele | Frequent (79-30%) |
| HP:0011496 | Corneal neovascularization | Frequent (79-30%) |
| HP:0012732 | Anorectal anomaly | Frequent (79-30%) |
| HP:0100765 | Abnormality of the tonsils | Frequent (79-30%) |
| HP:0000023 | Inguinal hernia | Occasional (29-5%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000047 | Hypospadias | Occasional (29-5%) |
| HP:0000076 | Vesicoureteral reflux | Occasional (29-5%) |
| HP:0000113 | Polycystic kidney dysplasia | Occasional (29-5%) |
| HP:0000130 | Abnormality of the uterus | Occasional (29-5%) |
| HP:0000160 | Narrow mouth | Occasional (29-5%) |
| HP:0000238 | Hydrocephalus | Occasional (29-5%) |
| HP:0000252 | Microcephaly | Occasional (29-5%) |
| HP:0000262 | Turricephaly | Occasional (29-5%) |
| HP:0000316 | Hypertelorism | Occasional (29-5%) |
| HP:0000322 | Short philtrum | Occasional (29-5%) |
| HP:0000347 | Micrognathia | Occasional (29-5%) |
| HP:0000453 | Choanal atresia | Occasional (29-5%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000494 | Downslanted palpebral fissures | Occasional (29-5%) |
| HP:0000501 | Glaucoma | Occasional (29-5%) |
| HP:0000518 | Cataract | Occasional (29-5%) |
| HP:0000568 | Microphthalmia | Occasional (29-5%) |
| HP:0000648 | Optic atrophy | Occasional (29-5%) |
| HP:0000682 | Abnormality of dental enamel | Occasional (29-5%) |
| HP:0000708 | Behavioral abnormality | Occasional (29-5%) |
| HP:0000716 | Depressivity | Occasional (29-5%) |
| HP:0000717 | Autism | Occasional (29-5%) |
| HP:0000739 | Anxiety | Occasional (29-5%) |
| HP:0000765 | Abnormality of the thorax | Occasional (29-5%) |
| HP:0000821 | Hypothyroidism | Occasional (29-5%) |
| HP:0000836 | Hyperthyroidism | Occasional (29-5%) |
| HP:0000979 | Purpura | Occasional (29-5%) |
| HP:0001053 | Hypopigmented skin patches | Occasional (29-5%) |
| HP:0001081 | Cholelithiasis | Occasional (29-5%) |
| HP:0001136 | Retinal arteriolar tortuosity | Occasional (29-5%) |
| HP:0001161 | Hand polydactyly | Occasional (29-5%) |
| HP:0001249 | Intellectual disability | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001369 | Arthritis | Occasional (29-5%) |
| HP:0001508 | Failure to thrive | Occasional (29-5%) |
| HP:0001511 | Intrauterine growth retardation | Occasional (29-5%) |
| HP:0001513 | Obesity | Occasional (29-5%) |
| HP:0001537 | Umbilical hernia | Occasional (29-5%) |
| HP:0001561 | Polyhydramnios | Occasional (29-5%) |
| HP:0001601 | Laryngomalacia | Occasional (29-5%) |
| HP:0001643 | Patent ductus arteriosus | Occasional (29-5%) |
| HP:0001646 | Abnormal aortic valve morphology | Occasional (29-5%) |
| HP:0001744 | Splenomegaly | Occasional (29-5%) |
| HP:0001762 | Talipes equinovarus | Occasional (29-5%) |
| HP:0001829 | Foot polydactyly | Occasional (29-5%) |
| HP:0001872 | Abnormal thrombocyte morphology | Occasional (29-5%) |
| HP:0001873 | Thrombocytopenia | Occasional (29-5%) |
| HP:0002020 | Gastroesophageal reflux | Occasional (29-5%) |
| HP:0002023 | Anal atresia | Occasional (29-5%) |
| HP:0002099 | Asthma | Occasional (29-5%) |
| HP:0002139 | Arrhinencephaly | Occasional (29-5%) |
| HP:0002239 | Gastrointestinal hemorrhage | Occasional (29-5%) |
| HP:0002251 | Aganglionic megacolon | Occasional (29-5%) |
| HP:0002414 | Spina bifida | Occasional (29-5%) |
| HP:0002566 | Intestinal malrotation | Occasional (29-5%) |
| HP:0002607 | Bowel incontinence | Occasional (29-5%) |
| HP:0002619 | Varicose veins | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002960 | Autoimmunity | Occasional (29-5%) |
| HP:0002999 | Patellar dislocation | Occasional (29-5%) |
| HP:0005562 | Multiple renal cysts | Occasional (29-5%) |
| HP:0005692 | Joint hyperflexibility | Occasional (29-5%) |
| HP:0006510 | Chronic obstructive pulmonary disease | Occasional (29-5%) |
| HP:0006525 | obsolete Lung segmentation defects | Occasional (29-5%) |
| HP:0007302 | Bipolar affective disorder | Occasional (29-5%) |
| HP:0008872 | Feeding difficulties in infancy | Occasional (29-5%) |
| HP:0011324 | Multiple suture craniosynostosis | Occasional (29-5%) |
| HP:0011662 | Tricuspid atresia | Occasional (29-5%) |
| HP:0100735 | Hypertensive crisis | Occasional (29-5%) |
| HP:0100750 | Atelectasis | Occasional (29-5%) |
| HP:0100753 | Schizophrenia | Occasional (29-5%) |
Total: 106
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002901 | Hypocalcemia | 21 |
| HP:0000829 | Hypoparathyroidism | 20 |
| HP:0002721 | Immunodeficiency | 10 |
| HP:0001250 | Seizures | 9 |
| HP:0000220 | Velopharyngeal insufficiency | 8 |
| HP:0001629 | Ventricular septal defect | 8 |
| HP:0000778 | Hypoplasia of the thymus | 6 |
| HP:0100753 | Schizophrenia | 6 |
| HP:0011611 | Interrupted aortic arch | 5 |
| HP:0000252 | Microcephaly | 4 |
| HP:0000709 | Psychosis | 4 |
| HP:0001710 | Conotruncal defect | 4 |
| HP:0002414 | Spina bifida | 3 |
| HP:0100543 | Cognitive impairment | 3 |
| HP:0000860 | Parathyroid hypoplasia | 2 |
| HP:0000979 | Purpura | 2 |
| HP:0001249 | Intellectual disability | 2 |
| HP:0001305 | Dandy-Walker malformation | 2 |
| HP:0001643 | Patent ductus arteriosus | 2 |
| HP:0001762 | Talipes equinovarus | 2 |
| HP:0002027 | Abdominal pain | 2 |
| HP:0002090 | Pneumonia | 2 |
| HP:0002716 | Lymphadenopathy | 2 |
| HP:0002719 | Recurrent infections | 2 |
| HP:0002960 | Autoimmunity | 2 |
| HP:0003072 | Hypercalcemia | 2 |
| HP:0005374 | Cellular immunodeficiency | 2 |
| HP:0008198 | Congenital hypoparathyroidism | 2 |
| HP:0010880 | Increased nuchal translucency | 2 |
| HP:0011469 | Nasal regurgitation | 2 |
| HP:0011613 | Interrupted aortic arch type B | 2 |
| HP:0011614 | Interrupted aortic arch type C | 2 |
| HP:0000276 | Long face | 1 |
| HP:0000286 | Epicanthus | 1 |
| HP:0000316 | Hypertelorism | 1 |
| HP:0000322 | Short philtrum | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000365 | Hearing impairment | 1 |
| HP:0000448 | Prominent nose | 1 |
| HP:0000483 | Astigmatism | 1 |
| HP:0000486 | Strabismus | 1 |
| HP:0000494 | Downslanted palpebral fissures | 1 |
| HP:0000508 | Ptosis | 1 |
| HP:0000518 | Cataract | 1 |
| HP:0000526 | Aniridia | 1 |
| HP:0000568 | Microphthalmia | 1 |
| HP:0000627 | Posterior embryotoxon | 1 |
| HP:0000647 | Sclerocornea | 1 |
| HP:0000717 | Autism | 1 |
| HP:0000726 | Dementia | 1 |
| HP:0000819 | Diabetes mellitus | 1 |
| HP:0000821 | Hypothyroidism | 1 |
| HP:0000836 | Hyperthyroidism | 1 |
| HP:0000988 | Skin rash | 1 |
| HP:0001281 | Tetany | 1 |
| HP:0001310 | Dysmetria | 1 |
| HP:0001371 | Flexion contracture | 1 |
| HP:0001508 | Failure to thrive | 1 |
| HP:0001513 | Obesity | 1 |
| HP:0001601 | Laryngomalacia | 1 |
| HP:0001607 | Subglottic stenosis | 1 |
| HP:0001708 | Right ventricular failure | 1 |
| HP:0001733 | Pancreatitis | 1 |
| HP:0001903 | Anemia | 1 |
| HP:0002013 | Vomiting | 1 |
| HP:0002020 | Gastroesophageal reflux | 1 |
| HP:0002119 | Ventriculomegaly | 1 |
| HP:0002135 | Basal ganglia calcification | 1 |
| HP:0002199 | Hypocalcemic seizures | 1 |
| HP:0002463 | Language impairment | 1 |
| HP:0002650 | Scoliosis | 1 |
| HP:0002754 | Osteomyelitis | 1 |
| HP:0002777 | Tracheal stenosis | 1 |
| HP:0002780 | Bronchomalacia | 1 |
| HP:0002860 | Squamous cell carcinoma | 1 |
| HP:0002861 | Melanoma | 1 |
| HP:0003198 | Myopathy | 1 |
| HP:0003472 | Hypocalcemic tetany | 1 |
| HP:0004322 | Short stature | 1 |
| HP:0004756 | Ventricular tachycardia | 1 |
| HP:0005160 | Total anomalous pulmonary venous return | 1 |
| HP:0005359 | Aplasia of the thymus | 1 |
| HP:0005387 | Combined immunodeficiency | 1 |
| HP:0005764 | Polyarticular arthritis | 1 |
| HP:0007009 | Central nervous system degeneration | 1 |
| HP:0007707 | Congenital aphakia | 1 |
| HP:0008750 | Laryngeal atresia | 1 |
| HP:0010442 | Polydactyly | 1 |
| HP:0010775 | Vascular ring | 1 |
| HP:0010882 | Pulmonary valve atresia | 1 |
| HP:0011510 | Drusen | 1 |
| HP:0011590 | Double aortic arch | 1 |
| HP:0011682 | Perimembranous ventricular septal defect | 1 |
| HP:0012075 | Personality disorder | 1 |
| HP:0012385 | Camptodactyly | 1 |
| HP:0012490 | Panniculitis | 1 |
| HP:0012759 | Neurodevelopmental abnormality | 1 |
| HP:0012819 | Myocarditis | 1 |
| HP:0012841 | Retinal vascular tortuosity | 1 |
| HP:0030084 | Clinodactyly | 1 |
| HP:0030955 | Alcoholism | 1 |
| HP:0031690 | Opportunistic infection | 1 |
| HP:0031834 | Aortopulmonary collateral arteries | 1 |
| HP:0100584 | Endocarditis | 1 |
| HP:0100841 | Microgastria | 1 |
| HP:0100898 | Connective tissue nevi | 1 |
Total: 10
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|---|---|
| TBX1 | T-box 1 | 6899 |
| TBX1 | T-box 1 | 6899 |
| ARVCF | ARVCF delta catenin family member | 421 |
| GP1BB | glycoprotein Ib platelet subunit beta | 2812 |
| UFD1 | ubiquitin recognition factor in ER associated degradation 1 | 7353 |
| COMT | catechol-O-methyltransferase | 1312 |
| HIRA | histone cell cycle regulator | 7290 |
| JMJD1C | jumonji domain containing 1C | 221037 |
| RREB1 | ras responsive element binding protein 1 | 6239 |
| SEC24C | SEC24 homolog C, COPII coat complex component | 9632 |