| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (65.9%) |
30459979 (6243348) |
A case of I-cell disease (mucolipidosis II) presenting with short femurs on prenatal ultrasound and profound diaphyseal cloaking. Capobres T, Sabharwal G, Griffith B. BJR Case Rep. 2016;2(3):20150420. |
| Retrognathia Coarse facial features Short femur Short humerus | ||
| 2 (49.1%) |
30105123 |
Challenges in Diagnosing Rare Genetic Causes of Common In Utero Presentations: Report of Two Patients with Mucolipidosis Type II (I-Cell Disease). Costain G, Inbar-Feigenberg M, Saleh M, Yaniv-Salem S, Ryan G, Morgen E, Goh ES, Nishimura G, Chitayat D. J Pediatr Genet. 2018;7(3):134-137. |
| Short femur | ||
| 2 (49.1%) |
17228159 |
Short femurs detected at 25 and 31 weeks of gestation diagnosed as Leroy I-cell disease in the postnatal period: a report of two cases. Yuksel A, Kayserili H, Gungor F. Fetal Diagn Ther. 2007;22(3):198-202. |
| Short femur | ||
| Adult Differential Diagnosis Females Femur Genes, Recessive Gestational Age Hexosaminidases Homo sapiens Infant, Newborn Male Mucolipidoses Pregnancy Ultrasonography, Prenatal | ||
| 2 (49.1%) |
3080723 |
Fetal mucolipidosis II (I-cell disease): radiologic and pathologic correlation. Babcock DS, Bove KE, Hug G, Dignan PS, Soukup S, Warren NS. Pediatr Radiol. 1986;16(1):32-9. |
| Broad ribs Short femur | ||
| Bone and Bones Females Fetal Diseases Heterotopic Ossification Homo sapiens Mucolipidoses Pregnancy | ||
| 5 (48.3%) |
8887204 |
Mucolipidosis type II in a domestic shorthair cat. Hubler M, Haskins ME, Arnold S, Kaser-Hotz B, Bosshard NU, Briner J, Spycher MA, Gitzelmann R, Sommerlade HJ, von Figura K. J Small Anim Pract. 1996;37(9):435-41. |
| Broad face Hip dysplasia Frontal bossing | ||
| GNPTAB | ||
| Animals Axon Bone and Bones Cartilage Cat Diseases Connective Tissue Electron Microscopy Felis catus Females Leukocytes Mucolipidoses Mucopolysaccharidosis I Mucopolysaccharidosis VI Mucopolysaccharidosis VII Skin | ||
| 6 (45.8%) |
21991745 |
Anesthesia for gingivectomy and dental extractions in a child with I-cell disease--a case report. Mahfouz AK, George G. Middle East J Anaesthesiol. 2011;21(1):121-4. |
| Coarse facial features Hip dislocation | ||
| Child, Preschool Females Gingivectomy Homo sapiens Laryngeal Masks Mucolipidoses Tooth Extraction | ||
| 6 (45.8%) |
20927271 (2945506) |
Difficult intubation management in a child with I-cell disease. M Mahfouz AK, George G, Al-Bahlani SS, Al Nabhani MZ. Saudi J Anaesth. 2010;4(2):105-7. |
| Coarse facial features Hip dislocation | ||
| 8 (40.2%) |
12567409 |
Clinical and genetic aspects of trigonocephaly: a study of 25 cases. Azimi C, Kennedy SJ, Chitayat D, Chakraborty P, Clarke JT, Forrest C, Teebi AS. Am J Med Genet A. 2003;117A(2):127-35. |
| Trigonocephaly Metopic synostosis | ||
| Child, Preschool Chromosome Aberrations Craniofacial Abnormalities Craniosynostosis Fatal Outcome Females Homo sapiens Infant Infant, Newborn Male Syndrome | ||
| 8 (40.2%) |
12483356 |
A case of I-cell disease (mucolipidosis II) presenting with craniosynostosis. Aynaci FM, Cakir E, Aynaci O. Childs Nerv Syst. 2002;18(12):707-11. |
| Microcephaly Coarse facial features | ||
| Craniosynostosis Craniotomy Homo sapiens Infant Magnetic Resonance Imaging Male Mucolipidoses X-Ray Computed Tomography | ||
| 10 (36.8%) |
17656121 |
Radiolucent lesions of the maxillofacial complex in a patient with mucolipidosis type II (MLSII): case report. Melo MD, Obeid G. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007;104(4):e30-3. |
| Inguinal hernia Impacted tooth | ||
| Child Homo sapiens Jaw Abnormalities Male Mucolipidoses |
Total: 31
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000280 | Coarse facial features | Very frequent (99-80%) |
| HP:0000765 | Abnormality of the thorax | Very frequent (99-80%) |
| HP:0001508 | Failure to thrive | Very frequent (99-80%) |
| HP:0001744 | Splenomegaly | Very frequent (99-80%) |
| HP:0002230 | Generalized hirsutism | Very frequent (99-80%) |
| HP:0002240 | Hepatomegaly | Very frequent (99-80%) |
| HP:0003026 | Short long bone | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0008155 | Mucopolysacchariduria | Very frequent (99-80%) |
| HP:0011344 | Severe global developmental delay | Very frequent (99-80%) |
| HP:0012639 | Abnormality of nervous system morphology | Very frequent (99-80%) |
| HP:0100790 | Hernia | Very frequent (99-80%) |
| HP:0200020 | Corneal erosion | Very frequent (99-80%) |
| HP:0000286 | Epicanthus | Frequent (79-30%) |
| HP:0000343 | Long philtrum | Frequent (79-30%) |
| HP:0000463 | Anteverted nares | Frequent (79-30%) |
| HP:0000963 | Thin skin | Frequent (79-30%) |
| HP:0005280 | Depressed nasal bridge | Frequent (79-30%) |
| HP:0100679 | Lack of skin elasticity | Frequent (79-30%) |
| HP:0000187 | Broad alveolar ridges | Occasional (29-5%) |
| HP:0000485 | Megalocornea | Occasional (29-5%) |
| HP:0001048 | Cavernous hemangioma | Occasional (29-5%) |
| HP:0001131 | Corneal dystrophy | Occasional (29-5%) |
| HP:0001498 | Carpal bone hypoplasia | Occasional (29-5%) |
| HP:0001635 | Congestive heart failure | Occasional (29-5%) |
| HP:0001654 | Abnormal heart valve morphology | Occasional (29-5%) |
| HP:0001824 | Weight loss | Occasional (29-5%) |
| HP:0002205 | Recurrent respiratory infections | Occasional (29-5%) |
| HP:0002808 | Kyphosis | Occasional (29-5%) |
| HP:0007759 | Opacification of the corneal stroma | Occasional (29-5%) |
| HP:0009092 | Progressive alveolar ridge hypertropy | Occasional (29-5%) |
Total: 23
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001635 | Congestive heart failure | 3 |
| HP:0008155 | Mucopolysacchariduria | 3 |
| HP:0000280 | Coarse facial features | 2 |
| HP:0000843 | Hyperparathyroidism | 2 |
| HP:0001922 | Vacuolated lymphocytes | 2 |
| HP:0002748 | Rickets | 2 |
| HP:0003097 | Short femur | 2 |
| HP:0025356 | Psychomotor retardation | 2 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000365 | Hearing impairment | 1 |
| HP:0000405 | Conductive hearing impairment | 1 |
| HP:0000486 | Strabismus | 1 |
| HP:0000867 | Secondary hyperparathyroidism | 1 |
| HP:0001290 | Generalized hypotonia | 1 |
| HP:0001508 | Failure to thrive | 1 |
| HP:0001640 | Cardiomegaly | 1 |
| HP:0002119 | Ventriculomegaly | 1 |
| HP:0002205 | Recurrent respiratory infections | 1 |
| HP:0002870 | Obstructive sleep apnea | 1 |
| HP:0006462 | Generalized bone demineralization | 1 |
| HP:0011947 | Respiratory tract infection | 1 |
| HP:0012448 | Delayed myelination | 1 |
| HP:0100019 | Cortical cataract | 1 |