| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (57.8%) |
27309155 |
Tetrasomy 18p in a Twin Pregnancy with Diverse Expression in Both Fetuses. Inan C, Sayn NC, Atl E, Ulusal S, Erzincan S, Uzun I, Gurkan H, Varol FG. Fetal Pediatr Pathol. 2016;35(5):339-343. |
| Microcephaly Micrognathia | ||
| Abnormal Karyotype Adult Aneuploidy Chromosomes, Human, Pair 18 Females Homo sapiens Pregnancy Pregnancy, Twin Ultrasonography, Prenatal | ||
| 2 (44.7%) |
10756348 |
Neural tube defects and the 13q deletion syndrome: evidence for a critical region in 13q33-34. Luo J, Balkin N, Stewart JF, Sarwark JF, Charrow J, Nye JS. Am J Med Genet. 2000;91(3):227-30. |
| Microcephaly Telecanthus | ||
| Chromosome Banding Chromosome Deletion Chromosomes, Human, Pair 13 Cryptorchidism Homo sapiens Lumbosacral Region Male Male Genital Organs Meningomyelocele Neural Tube Defects Neurogenic Urinary Bladder | ||
| 3 (43.9%) |
27940761 |
Tetanus and Occam's Razor: Almost Forgotten but Not Gone: A Case Report. Skuby SO, Rhee E, Thilo EH, Simoes EA. Pediatrics. 2016;138(5):. |
| Trismus Risus sardonicus | ||
| Delayed Diagnosis Fatigue Homo sapiens Infant Male Muscle Hypertonia Tetanus Trismus | ||
| 4 (43.2%) |
18703879 |
Nonneural congenital abnormalities concurring with myelomeningocele: report of 17 cases and review of current theories. Baradaran N, Ahmadi H, Nejat F, El Khashab M, Mahdavi A. Pediatr Neurosurg. 2008;44(5):353-9. |
| Ambiguous genitalia Missing ribs | ||
| Child, Preschool Females Homo sapiens Infant Infant, Newborn Male Meningomyelocele Retrospective Studies | ||
| 5 (42.7%) |
12376934 |
Kousseff syndrome caused by deletion of chromosome 22q11-13. Forrester S, Kovach MJ, Smith RE, Rimer L, Wesson M, Kimonis VE. Am J Med Genet. 2002;112(4):338-42. |
| Retrognathia | ||
| Chromosome Deletion Chromosomes, Human, Pair 22 Cognition Disorders Congenital Heart Defects DNA Fatal Outcome Females Genotype Growth Disorders Homo sapiens Infant, Newborn Male Neural Tube Defects Polyacrylamide Gel Electrophoresis Syndrome | ||
| 6 (40.2%) |
29561489 |
Isolated Post-Shunt Metopic Synostosis and Neural Tube Defects. Abouhassan W, Chao JK, Murthy AS. J Craniofac Surg. 2018;29(5):e492-e497. |
| Trigonocephaly Metopic synostosis | ||
| Arnold Chiari Malformation Craniosynostosis Females Homo sapiens Hydrocephalus Infant Infant, Newborn Meningomyelocele Postoperative Complications Slit Ventricle Syndrome | ||
| 7 (39.0%) |
28668954 |
Lipoencephalocele in a Child: An Uncommon Swelling in the Occipital Region. Verma AK, Pandey A, Chaubey D, Sunil K, Gupta A, Kureel SN. Pediatr Neurosurg. 2017;52(4):275-278. |
| Encephalocele | ||
| Brain Neoplasms Child, Preschool Females Homo sapiens Lipoma X-Ray Computed Tomography | ||
| 7 (39.0%) |
26474100 |
Contiguous triple spinal dysraphism associated with Chiari malformation Type II and hydrocephalus: an embryological conundrum between the unified theory of Pang and the unified theory of McLone. Dhandapani S, Srinivasan A. J Neurosurg Pediatr. 2016;17(1):103-6. |
| Small posterior fossa | ||
| CNTN3 | ||
| Arnold Chiari Malformation Females Homo sapiens Hydrocephalus Infant Meningomyelocele Neurulation Spina Bifida | ||
| 7 (39.0%) |
24929556 (4071151) |
Malnutrition in pregnancy following bariatric surgery: three clinical cases of fetal neural defects. Pelizzo G, Calcaterra V, Fusillo M, Nakib G, Ierullo AM, Alfei A, Spinillo A, Stronati M, Cena H. Nutr J. 2014;13:59. |
| Microcephaly | ||
| Adult Bariatric Surgery Females Gastric Bypass Homo sapiens Infant, Newborn Male Malnutrition Meningomyelocele Neural Tube Defects Pregnancy Pregnancy Complications | ||
| 7 (39.0%) |
24251586 |
Retinoschisis and hyperopia associated with partial monosomy of 6q and partial trisomy of 11q. Bagheri N, Bahl RS, Singh AD, Rychwalski PJ. Ophthalmic Genet. 2014;35(2):107-11. |
| Microcephaly | ||
| Child Chromosome Deletion Chromosomes, Human, Pair 11 Chromosomes, Human, Pair 6 Craniofacial Abnormalities Growth Disorders Homo sapiens Hyperopia Male Retinoschisis Trisomy |
Total: 0
| HPO ID | Term | Frequency |
|---|
Total: 145
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000238 | Hydrocephalus | 63 |
| HP:0002808 | Kyphosis | 16 |
| HP:0002414 | Spina bifida | 15 |
| HP:0002435 | Meningocele | 15 |
| HP:0000011 | Neurogenic bladder | 14 |
| HP:0002308 | Arnold-Chiari malformation | 13 |
| HP:0002144 | Tethered cord | 12 |
| HP:0002650 | Scoliosis | 11 |
| HP:0012032 | Lipoma | 10 |
| HP:0009792 | Teratoma | 7 |
| HP:0010301 | Spinal dysraphism | 7 |
| HP:0100021 | Cerebral palsy | 7 |
| HP:0002084 | Encephalocele | 6 |
| HP:0001250 | Seizures | 5 |
| HP:0001287 | Meningitis | 5 |
| HP:0001945 | Fever | 4 |
| HP:0008454 | Lumbar kyphosis | 4 |
| HP:0010550 | Paraplegia | 4 |
| HP:0000020 | Urinary incontinence | 3 |
| HP:0000126 | Hydronephrosis | 3 |
| HP:0000252 | Microcephaly | 3 |
| HP:0002094 | Dyspnea | 3 |
| HP:0002323 | Anencephaly | 3 |
| HP:0002901 | Hypocalcemia | 3 |
| HP:0002937 | Hemivertebrae | 3 |
| HP:0003298 | Spina bifida occulta | 3 |
| HP:0003470 | Paralysis | 3 |
| HP:0008443 | Spinal deformities | 3 |
| HP:0100790 | Hernia | 3 |
| HP:0000010 | Recurrent urinary tract infections | 2 |
| HP:0000074 | Ureteropelvic junction obstruction | 2 |
| HP:0001254 | Lethargy | 2 |
| HP:0001257 | Spasticity | 2 |
| HP:0001334 | Communicating hydrocephalus | 2 |
| HP:0001338 | Partial agenesis of the corpus callosum | 2 |
| HP:0002013 | Vomiting | 2 |
| HP:0002019 | Constipation | 2 |
| HP:0002047 | Malignant hyperthermia | 2 |
| HP:0002089 | Pulmonary hypoplasia | 2 |
| HP:0002119 | Ventriculomegaly | 2 |
| HP:0002315 | Headache | 2 |
| HP:0002385 | Paraparesis | 2 |
| HP:0002625 | Deep venous thrombosis | 2 |
| HP:0002754 | Osteomyelitis | 2 |
| HP:0002944 | Thoracolumbar scoliosis | 2 |
| HP:0004619 | Lumbar kyphoscoliosis | 2 |
| HP:0010307 | Stridor | 2 |
| HP:0025615 | Abscess | 2 |
| HP:0030710 | Lipomeningocele | 2 |
| HP:0100806 | Sepsis | 2 |
| HP:0500094 | Latex allergy | 2 |
| HP:0000062 | Ambiguous genitalia | 1 |
| HP:0000083 | Renal insufficiency | 1 |
| HP:0000085 | Horseshoe kidney | 1 |
| HP:0000316 | Hypertelorism | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000601 | Hypotelorism | 1 |
| HP:0000609 | Optic nerve hypoplasia | 1 |
| HP:0000726 | Dementia | 1 |
| HP:0000821 | Hypothyroidism | 1 |
| HP:0000869 | Secondary amenorrhea | 1 |
| HP:0000960 | Sacral dimple | 1 |
| HP:0000961 | Cyanosis | 1 |
| HP:0001159 | Syndactyly | 1 |
| HP:0001283 | Bulbar palsy | 1 |
| HP:0001288 | Gait disturbance | 1 |
| HP:0001297 | Stroke | 1 |
| HP:0001623 | Breech presentation | 1 |
| HP:0001629 | Ventricular septal defect | 1 |
| HP:0001638 | Cardiomyopathy | 1 |
| HP:0001695 | Cardiac arrest | 1 |
| HP:0001746 | Asplenia | 1 |
| HP:0001748 | Polysplenia | 1 |
| HP:0001838 | Rocker bottom foot | 1 |
| HP:0001944 | Dehydration | 1 |
| HP:0001974 | Leukocytosis | 1 |
| HP:0002027 | Abdominal pain | 1 |
| HP:0002079 | Hypoplasia of the corpus callosum | 1 |
| HP:0002097 | Emphysema | 1 |
| HP:0002104 | Apnea | 1 |
| HP:0002138 | Subarachnoid hemorrhage | 1 |
| HP:0002191 | Progressive spasticity | 1 |
| HP:0002196 | Myelopathy | 1 |
| HP:0002273 | Tetraparesis | 1 |
| HP:0002516 | Increased intracranial pressure | 1 |
| HP:0002586 | Peritonitis | 1 |
| HP:0002751 | Kyphoscoliosis | 1 |
| HP:0002781 | Upper airway obstruction | 1 |
| HP:0002821 | Neuropathic arthropathy | 1 |
| HP:0002825 | Caudal appendage | 1 |
| HP:0003198 | Myopathy | 1 |
| HP:0003305 | Block vertebrae | 1 |
| HP:0003316 | Butterfly vertebrae | 1 |
| HP:0003416 | Spinal canal stenosis | 1 |
| HP:0004388 | Microcolon | 1 |
| HP:0004626 | Lumbar scoliosis | 1 |
| HP:0005348 | Inspiratory stridor | 1 |
| HP:0005619 | Thoracolumbar kyphosis | 1 |
| HP:0005943 | Respiratory arrest | 1 |
| HP:0006511 | Laryngeal stridor | 1 |
| HP:0006644 | Thoracic dysplasia | 1 |
| HP:0006882 | Severe hydrocephalus | 1 |
| HP:0007209 | Facial paralysis | 1 |
| HP:0007291 | Posterior fossa cyst | 1 |
| HP:0007313 | Cerebral degeneration | 1 |
| HP:0008191 | Thyroid agenesis | 1 |
| HP:0008846 | Severe intrauterine growth retardation | 1 |
| HP:0010474 | Bladder stones | 1 |
| HP:0010614 | Fibroma | 1 |
| HP:0010953 | Noncommunicating hydrocephalus | 1 |
| HP:0011139 | Gastric duplication | 1 |
| HP:0011499 | Mydriasis | 1 |
| HP:0012195 | Irregular respiration | 1 |
| HP:0012315 | Histiocytoma | 1 |
| HP:0012330 | Pyelonephritis | 1 |
| HP:0012399 | Pressure ulcer | 1 |
| HP:0012735 | Cough | 1 |
| HP:0012820 | Bilateral vocal cord paralysis | 1 |
| HP:0025247 | Dermoid cyst | 1 |
| HP:0025356 | Psychomotor retardation | 1 |
| HP:0030043 | Hip subluxation | 1 |
| HP:0030502 | Retinoschisis | 1 |
| HP:0030708 | Myeloschisis | 1 |
| HP:0030731 | Carcinoma | 1 |
| HP:0030773 | Internuclear ophthalmoplegia | 1 |
| HP:0030955 | Alcoholism | 1 |
| HP:0031245 | Productive cough | 1 |
| HP:0031273 | Shock | 1 |
| HP:0031485 | Subperiosteal bone formation | 1 |
| HP:0031500 | Abdominal mass | 1 |
| HP:0031864 | Bacteremia | 1 |
| HP:0032368 | Acidemia | 1 |
| HP:0040010 | Small posterior fossa | 1 |
| HP:0040293 | Right hemiplegia | 1 |
| HP:0100543 | Cognitive impairment | 1 |
| HP:0100548 | Exstrophy | 1 |
| HP:0100561 | Spinal cord lesion | 1 |
| HP:0100562 | Diplomyelia | 1 |
| HP:0100632 | Pulmonary sequestration | 1 |
| HP:0100668 | Intestinal duplication | 1 |
| HP:0100699 | Scarring | 1 |
| HP:0100880 | Nephrogenic rest | 1 |
| HP:0200040 | Epidermoid cyst | 1 |
| HP:0200042 | Skin ulcer | 1 |
| HP:0410262 | Lower cranial nerve dysfunction | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|