| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (49.3%) |
26820766 |
Craniometaphyseal dysplasia with obvious biochemical abnormality and rickets-like features. Wu B, Jiang Y, Wang O, Li M, Xing XP, Xia WB. Clin Chim Acta. 2016;456:122-127. |
| Nasal obstruction Metaphyseal widening | ||
| ALPP ANKH PTH TNFSF11 | ||
| c|DEL|1124_1126|CCT | ||
| Alkaline Phosphatase Bone Diseases, Developmental Craniofacial Abnormalities Exons Females Heterozygote Homo sapiens Hyperostosis Hypocalcemia Hypophosphatemia Infant Inorganic Phosphate Transporter Male Mutation Rickets | ||
| 2 (42.7%) |
6930464 |
Correction of maxillary retrognathia in a case of craniometaphyseal dysplasia. Laurian N, Zohar Y. J Oral Surg. 1980;38(8):609-12. |
| Retrognathia | ||
| Adult Bone and Bones Homo sapiens Hyperostosis Frontalis Interna Male Maxilla Osteotomy Retrognathia | ||
| 3 (39.3%) |
15533982 |
Craniometaphyseal dysplasia associated with obstructive sleep apnoea syndrome. Mintz S, Velez I. Dentomaxillofac Radiol. 2004;33(4):262-6. |
| Macrodontia Hyperostosis | ||
| Bone Diseases, Developmental Craniofacial Abnormalities Genes, Dominant Homo sapiens Hyperostosis Male Mandible Maxilla Middle Aged Osteosclerosis Sleep Apnea, Obstructive Tooth Abnormalities | ||
| 4 (39.0%) |
21495823 |
Enabling an unimpeded surgical approach to the skull base in patients with cranial hyperostosis, exemplarily demonstrated for craniometaphyseal dysplasia. Juergens P, Ratia J, Beinemann J, Krol Z, Schicho K, Kunz C, Zeilhofer HF, Zimmerer S. J Neurosurg. 2011;115(3):528-35. |
| Cranial hyperostosis | ||
| Bone Diseases, Developmental Craniofacial Abnormalities Homo sapiens Hyperostosis Male Neurosurgical Procedures Young Adult | ||
| 4 (39.0%) |
16679657 |
Craniofacial surgery for craniometaphyseal dysplasia. Ahmad FU, Mahapatra AK, Mahajan H. Neurol India. 2006;54(1):97-9. |
| Thickened calvaria | ||
| Adult Child Craniofacial Abnormalities Homo sapiens | ||
| 4 (39.0%) |
2000503 |
Radiographic features of craniometadiaphyseal dysplasia, wormian bone type. Langer LO Jr, Brill PW, Afshani E, Williams CA, Thomas IT, Frias JL. Skeletal Radiol. 1991;20(1):37-41. |
| Wormian bones | ||
| Bone Diseases, Developmental Child Females Genes, Recessive Homo sapiens Male | ||
| 7 (37.8%) |
20358596 |
Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. Kornak U, Brancati F, Le Merrer M, Lichtenbelt K, Hohne W, Tinschert S, Garaci FG, Dallapiccola B, Nurnberg P. Am J Med Genet A. 2010;152A(4):870-4. |
| Skeletal dysplasia Facial palsy | ||
| ANKH | ||
| c|SUB|T|1001|G;RS#:267606657 c|SUB|T|1015|C;RS#:267606656 c|SUB|T|1172|C;RS#:267606658 p|SUB|C|339|R;RS#:267606656 p|SUB|L|334|R;RS#:267606657 p|SUB|L|391|P;RS#:267606658 rs267606656 rs267606657 rs267606658 | ||
| Adult Amino Acid Sequence Bone Diseases, Developmental Child Child, Preschool Females Homo sapiens Infant Infant, Newborn Inorganic Phosphate Transporter Magnetic Resonance Imaging Male Membrane Proteins Molecular Sequence Data Mutation Pregnancy Sclerosis X-Ray Computed Tomography Young Adult | ||
| 7 (37.8%) |
11987949 |
Autosomal dominant craniometaphyseal dysplasia with atypical features. McKay DR, Fialkov JA. Br J Plast Surg. 2002;55(2):144-8. |
| Nasal obstruction Hyperostosis | ||
| Adult Bone Diseases Genes, Dominant Homo sapiens Hyperostosis Male Reconstructive Surgical Procedures Sclerosis | ||
| 9 (37.2%) |
421364 |
Craniometaphyseal dysplasia--variability of expression within a large family. Beighton P, Hamersma H, Horan F. Clin Genet. 1979;15(3):252-8. |
| Osteomyelitis Facial palsy | ||
| Adult Bone Diseases, Developmental Child, Preschool Deafness Females Genes, Dominant Homo sapiens Male Middle Aged Syndrome | ||
| 10 (35.3%) |
23299043 |
Middle cranial fossa facial nerve decompression before two years of age. Kang RS, Rubinstein JT. Int J Pediatr Otorhinolaryngol. 2013;77(4):570-2. |
| Facial paralysis | ||
| Bone Diseases, Developmental Craniofacial Abnormalities Decompression, Surgical Females Homo sapiens Hyperostosis Infant |
Total: 13
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000431 | Wide nasal bridge | Very frequent (99-80%) |
| HP:0000944 | Abnormality of the metaphysis | Very frequent (99-80%) |
| HP:0004493 | Craniofacial hyperostosis | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0011002 | Osteopetrosis | Very frequent (99-80%) |
| HP:0000506 | Telecanthus | Frequent (79-30%) |
| HP:0002652 | Skeletal dysplasia | Frequent (79-30%) |
| HP:0000405 | Conductive hearing impairment | Occasional (29-5%) |
| HP:0000407 | Sensorineural hearing impairment | Occasional (29-5%) |
| HP:0000505 | Visual impairment | Occasional (29-5%) |
| HP:0001291 | Abnormal cranial nerve morphology | Occasional (29-5%) |
| HP:0010628 | Facial palsy | Occasional (29-5%) |
Total: 17
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0100774 | Hyperostosis | 6 |
| HP:0001548 | Overgrowth | 3 |
| HP:0007209 | Facial paralysis | 3 |
| HP:0000572 | Visual loss | 2 |
| HP:0001742 | Nasal obstruction | 2 |
| HP:0100255 | Metaphyseal dysplasia | 2 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000278 | Retrognathia | 1 |
| HP:0000648 | Optic atrophy | 1 |
| HP:0001293 | Cranial nerve compression | 1 |
| HP:0002196 | Myelopathy | 1 |
| HP:0002748 | Rickets | 1 |
| HP:0003016 | Metaphyseal widening | 1 |
| HP:0003470 | Paralysis | 1 |
| HP:0004437 | Cranial hyperostosis | 1 |
| HP:0010628 | Facial palsy | 1 |
| HP:0011002 | Osteopetrosis | 1 |