| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 19 (20.4%) |
22926198 |
Effect of rapid cessation of enzyme replacement therapy: a report of 5 cases and a review of the literature. Jurecka A, uberuber Z, Opoka-Winiarska V, Wgrzyn G, Tylki-Szymanska A. Mol Genet Metab. 2012;107(3):508-12. |
| Renal insufficiency Joint stiffness | ||
| Child Enzyme Replacement Therapy Homo sapiens Iduronate Sulfatase Mucopolysaccharidosis II Survival Analysis Withholding Treatment Young Adult | ||
| 22 (17.5%) |
31152267 |
Transabdominal preperitoneal repair for an adolescent patient with Hunter syndrome: a case report. Tada Y, Yamamoto M, Sunaguchi T, Uejima C, Tanio A, Murakami Y, Takano S, Sakamoto T, Honjo S, Ashida K, Saito H, Fujiwara Y. Surg Case Rep. 2019;5(1):89. |
| Inguinal hernia | ||
| 22 (17.5%) |
29860540 |
Intrathecal baclofen in mucopolysaccharidosis type II (Hunter syndrome): case report. Horn F, Petrik M, Dubravova D, Hornova J, Brennerova K, Bzduch V. Childs Nerv Syst. 2018;34(11):2325-2327. |
| Spasticity | ||
| Child Homo sapiens Infusion Pumps, Implantable Injections, Spinal Male Mucopolysaccharidosis II Muscle Relaxants, Central Muscle Spasticity | ||
| 22 (17.5%) |
24908534 |
Mucopolysaccharidosis type II with inguinal hernia. Rayamajhi A, Pokharel PJ, Chapagain R, Rayamajhi AK. J Nepal Health Res Counc. 2013;11(25):293-5. |
| Inguinal hernia | ||
| Child, Preschool Hernia, Inguinal Homo sapiens Male Mucopolysaccharidosis II Nepal | ||
| 22 (17.5%) |
21800666 |
[Anesthesia for three patients with Hunter syndrome]. Kodani Y, Matsuura T, Mori T, Nishikawa K, Asada A. Masui. 2011;60(7):846-9. |
| Inguinal hernia | ||
| Airway Management Child, Preschool Femoral Neck Fractures Hernia, Inguinal Homo sapiens Male Middle Aged Mucopolysaccharidosis II Perioperative Care Young Adult | ||
| 22 (17.5%) |
7726166 |
Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region. Dahl N, Hu LJ, Chery M, Fardeau M, Gilgenkrantz S, Nivelon-Chevallier A, Sidaner-Noisette I, Mugneret F, Gouyon JB, Gal A, et al.. Am J Hum Genet. 1995;56(5):1108-15. |
| Myopathy | ||
| AR FRAXA MTM1 | ||
| Adult Chromosome Banding Chromosome Mapping Chromosomes, Human DNA Probes Females Homo sapiens In Vitro Techniques Infant Muscle Tissue Myopathy Sequence Deletion Sex Chromosome Aberrations X Chromosome | ||
| 27 (4.0%) |
30463807 |
Bow Hunter Syndrome with Associated Pseudoaneurysm. Hernandez RN, Wipplinger C, Navarro-Ramirez R, Patsalides A, Tsiouris AJ, Stieg PE, Kirnaz S, Schmidt FA, Hartl R. World Neurosurg. 2019;122:53-57. |
| Syncope | ||
| Cervical Vertebrae Females Homo sapiens Middle Aged Pseudoaneurysm Vertebrobasilar Insufficiency | ||
| 27 (4.0%) |
30049674 |
Avoiding diagnostic delay for mucopolysaccharidosis IIIB: do not overlook common clues such as wheezing and otitis media. Yodoshi T, Hurt TL. BMJ Case Rep. 2018;2018:. |
| Otitis media | ||
| Child, Preschool Delayed Diagnosis Differential Diagnosis Hepatomegaly Homo sapiens Male Mucopolysaccharidosis III Otitis Media Respiratory Sounds X-Ray Computed Tomography | ||
| 27 (4.0%) |
29862088 (5971357) |
Unexpected Exacerbation of Tracheal Stenosis in a Patient with Hunter Syndrome Undergoing Cardiac Surgery. Terabe N, Yamashita S, Tanaka M. Case Rep Anesthesiol. 2018;2018:5691410. |
| Dyspnea | ||
| 27 (4.0%) |
29506582 |
Early childhood onset of high-grade atrioventricular block in Hunter syndrome. Chlebowski MM, Heese BA, Malloy-Walton LE. Cardiol Young. 2018;28(5):786-787. |
| Atrioventricular block | ||
| Atrioventricular Block Cardiac Pacing, Artificial Child, Preschool Electrocardiography Follow-Up Studies Homo sapiens Male Mucopolysaccharidosis II Telemetry Time Factors |
Total: 34
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000179 | Thick lower lip vermilion | Very frequent (99-80%) |
| HP:0000256 | Macrocephaly | Very frequent (99-80%) |
| HP:0000268 | Dolichocephaly | Very frequent (99-80%) |
| HP:0000280 | Coarse facial features | Very frequent (99-80%) |
| HP:0000365 | Hearing impairment | Very frequent (99-80%) |
| HP:0000457 | Depressed nasal ridge | Very frequent (99-80%) |
| HP:0000470 | Short neck | Very frequent (99-80%) |
| HP:0000648 | Optic atrophy | Very frequent (99-80%) |
| HP:0000687 | Widely spaced teeth | Very frequent (99-80%) |
| HP:0000708 | Behavioral abnormality | Very frequent (99-80%) |
| HP:0001072 | Thickened skin | Very frequent (99-80%) |
| HP:0001085 | Papilledema | Very frequent (99-80%) |
| HP:0001744 | Splenomegaly | Very frequent (99-80%) |
| HP:0002187 | Intellectual disability, profound | Very frequent (99-80%) |
| HP:0002230 | Generalized hirsutism | Very frequent (99-80%) |
| HP:0003510 | Severe short stature | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0008155 | Mucopolysacchariduria | Very frequent (99-80%) |
| HP:0000023 | Inguinal hernia | Frequent (79-30%) |
| HP:0000303 | Mandibular prognathia | Frequent (79-30%) |
| HP:0000403 | Recurrent otitis media | Frequent (79-30%) |
| HP:0000767 | Pectus excavatum | Frequent (79-30%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0001537 | Umbilical hernia | Frequent (79-30%) |
| HP:0001626 | Abnormality of the cardiovascular system | Frequent (79-30%) |
| HP:0002024 | Malabsorption | Frequent (79-30%) |
| HP:0003272 | Abnormality of the hip bone | Frequent (79-30%) |
| HP:0007703 | Abnormality of retinal pigmentation | Frequent (79-30%) |
| HP:0000158 | Macroglossia | Occasional (29-5%) |
| HP:0000508 | Ptosis | Occasional (29-5%) |
| HP:0001387 | Joint stiffness | Occasional (29-5%) |
| HP:0001601 | Laryngomalacia | Occasional (29-5%) |
| HP:0002777 | Tracheal stenosis | Occasional (29-5%) |
| HP:0002808 | Kyphosis | Occasional (29-5%) |
Total: 38
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001297 | Stroke | 3 |
| HP:0000023 | Inguinal hernia | 2 |
| HP:0001433 | Hepatosplenomegaly | 2 |
| HP:0004322 | Short stature | 2 |
| HP:0010307 | Stridor | 2 |
| HP:0010535 | Sleep apnea | 2 |
| HP:0000256 | Macrocephaly | 1 |
| HP:0000572 | Visual loss | 1 |
| HP:0001257 | Spasticity | 1 |
| HP:0001263 | Global developmental delay | 1 |
| HP:0001334 | Communicating hydrocephalus | 1 |
| HP:0001395 | Hepatic fibrosis | 1 |
| HP:0001678 | Atrioventricular block | 1 |
| HP:0001718 | Mitral stenosis | 1 |
| HP:0001878 | Hemolytic anemia | 1 |
| HP:0002094 | Dyspnea | 1 |
| HP:0002133 | Status epilepticus | 1 |
| HP:0002140 | Ischemic stroke | 1 |
| HP:0002196 | Myelopathy | 1 |
| HP:0002240 | Hepatomegaly | 1 |
| HP:0002318 | Cervical myelopathy | 1 |
| HP:0002777 | Tracheal stenosis | 1 |
| HP:0002791 | Hypoventilation | 1 |
| HP:0002870 | Obstructive sleep apnea | 1 |
| HP:0002878 | Respiratory failure | 1 |
| HP:0003198 | Myopathy | 1 |
| HP:0003302 | Spondylolisthesis | 1 |
| HP:0003423 | Thoracolumbar kyphoscoliosis | 1 |
| HP:0008430 | Anterior beaking of lumbar vertebrae | 1 |
| HP:0011951 | Aspiration pneumonia | 1 |
| HP:0012307 | Spatulate ribs | 1 |
| HP:0025267 | Snoring | 1 |
| HP:0025324 | Arterial occlusion | 1 |
| HP:0030148 | Heart murmur | 1 |
| HP:0031625 | Pseudoaneurysm | 1 |
| HP:0100014 | Epiretinal membrane | 1 |
| HP:0100832 | Vitreous floaters | 1 |
| HP:0200034 | Papule | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|