| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 17 (32.7%) |
12065952 |
Congenital bowing of long bones: prenatal ultrasound findings and diagnostic dilemmas. Farra C, Piquet C, Guillaume M, D'Ercole C, Philip N. Fetal Diagn Ther. 2002;17(4):236-9. |
| Femoral bowing | ||
| Adult Bone Diseases, Developmental Differential Diagnosis Females Homo sapiens Pregnancy Ultrasonography, Prenatal | ||
| 17 (32.7%) |
8411055 |
Campomelic dysplasia: evidence of autosomal dominant inheritance. Lynch SA, Gaunt ML, Minford AM. J Med Genet. 1993;30(8):683-6. |
| Tibial bowing | ||
| Bone Diseases, Developmental Females Genes, Dominant Homo sapiens Infant, Newborn Limb Deformities, Congenital | ||
| 17 (32.7%) |
7435461 |
Long-limbed campomelic dwarfism. A radiologic and pathologic study. Austin GE, Gold RH, Mirra JM, Perry S, Moedjono S. Am J Dis Child. 1980;134(11):1035-42. |
| Gonadal dysgenesis Bowing of the long bones | ||
| Bone and Bones Dwarfism Females Gonadal Dysgenesis Homo sapiens Infant, Newborn Male Syndrome | ||
| 17 (32.7%) |
6705404 |
Orthopaedic problems associated with survival in campomelic dysplasia. Ray S, Bowen JR. Clin Orthop Relat Res. 1984;(185):77-82. |
| Bowing of the long bones | ||
| Bone Diseases, Developmental Child Females Homo sapiens | ||
| 17 (32.7%) |
6637478 |
Congenital bowing of the long bones. An example of a campomelic syndrome of the short-limbed normocephalic subtype. Fryns JP, Annicq P, Ulrix M, van den Berghe H. Acta Paediatr Scand. 1983;72(5):789-91. |
| Bowing of the long bones | ||
| Bone and Bones Chest Dwarfism Femur Homo sapiens Infant, Newborn Male Scrotum Syndrome | ||
| 17 (32.7%) |
643362 |
Syndromes of congenital bowing of the long bones. Kozlowski K, Butzler HO, Galatius-Jensen F, Tulloch A. Pediatr Radiol. 1978;7(1):40-8. |
| Femoral bowing | ||
| Adult Bone and Bones Child Dwarfism Females Homo sapiens Infant Infant, Newborn Male Syndrome | ||
| 27 (31.0%) |
24038782 |
A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome. Matsushita M, Kitoh H, Kaneko H, Mishima K, Kadono I, Ishiguro N, Nishimura G. Am J Med Genet A. 2013;161A(10):2528-34. |
| Sandal gap | ||
| SOX9 TBX4 | ||
| p|SUB|H|169|Q;RS#:2229989 rs2229989 | ||
| Amino Acid Sequence Animals Bone Diseases, Developmental COS Cells Cercopithecus aethiops Child Computational Biology Conserved Sequence Homo sapiens Male Molecular Sequence Data Mutation Patella Phenotype Pierre Robin Syndrome SOX9 Transcription Factor Sequence Alignment Syndrome T-Box Domain Proteins | ||
| 28 (27.8%) |
29695406 (5983176) |
A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of SOX9. Antwi P, Hong CS, Duran D, Jin SC, Dong W, DiLuna M, Kahle KT. Cold Spring Harb Mol Case Stud. 2018;4(3):. |
| Pierre-Robin sequence | ||
| SOX9 | ||
| Brain Females Fluorescent in Situ Hybridization Genetic Association Studies Germ-Line Mutation Homo sapiens Hydrocephalus Infant, Newborn Magnetic Resonance Imaging Phenotype SOX9 Transcription Factor Skeleton Spinal Cord | ||
| 28 (27.8%) |
22529047 |
Complex genomic rearrangement in the SOX9 5' region in a patient with Pierre Robin sequence and hypoplastic left scapula. Fukami M, Tsuchiya T, Takada S, Kanbara A, Asahara H, Igarashi A, Kamiyama Y, Nishimura G, Ogata T. Am J Med Genet A. 2012;158A(7):1529-34. |
| Pierre-Robin sequence | ||
| SOX9 | ||
| 5' Flanking Region Chromosome Banding Fluorescent in Situ Hybridization Homo sapiens Infant, Newborn Male Pierre Robin Syndrome SOX9 Transcription Factor | ||
| 30 (23.3%) |
28447148 |
Absent pedicles in campomelic dysplasia. McDowell MM, Dede O, Bosch P, Tyler-Kabara EC. Childs Nerv Syst. 2017;33(6):987-992. |
| Kyphoscoliosis | ||
| Cervical Vertebrae Child Females Follow-Up Studies Homo sapiens |
Total: 38
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000175 | Cleft palate | Very frequent (99-80%) |
| HP:0000256 | Macrocephaly | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000470 | Short neck | Very frequent (99-80%) |
| HP:0000774 | Narrow chest | Very frequent (99-80%) |
| HP:0000878 | 11 pairs of ribs | Very frequent (99-80%) |
| HP:0001601 | Laryngomalacia | Very frequent (99-80%) |
| HP:0002093 | Respiratory insufficiency | Very frequent (99-80%) |
| HP:0002650 | Scoliosis | Very frequent (99-80%) |
| HP:0002757 | Recurrent fractures | Very frequent (99-80%) |
| HP:0002779 | Tracheomalacia | Very frequent (99-80%) |
| HP:0002786 | Tracheobronchomalacia | Very frequent (99-80%) |
| HP:0002827 | Hip dislocation | Very frequent (99-80%) |
| HP:0002982 | Tibial bowing | Very frequent (99-80%) |
| HP:0003026 | Short long bone | Very frequent (99-80%) |
| HP:0003038 | Fibular hypoplasia | Very frequent (99-80%) |
| HP:0006487 | Bowing of the long bones | Very frequent (99-80%) |
| HP:0006584 | Small abnormally formed scapulae | Very frequent (99-80%) |
| HP:0008477 | Poorly ossified cervical vertebrae | Very frequent (99-80%) |
| HP:0008821 | Hypoplastic inferior ilia | Very frequent (99-80%) |
| HP:0012368 | Flat face | Very frequent (99-80%) |
| HP:0000037 | Male pseudohermaphroditism | Frequent (79-30%) |
| HP:0000062 | Ambiguous genitalia | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000369 | Low-set ears | Frequent (79-30%) |
| HP:0000520 | Proptosis | Frequent (79-30%) |
| HP:0001762 | Talipes equinovarus | Frequent (79-30%) |
| HP:0002980 | Femoral bowing | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0010781 | Skin dimple | Frequent (79-30%) |
| HP:0000126 | Hydronephrosis | Occasional (29-5%) |
| HP:0000365 | Hearing impairment | Occasional (29-5%) |
| HP:0002119 | Ventriculomegaly | Occasional (29-5%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Occasional (29-5%) |
| HP:0002808 | Kyphosis | Occasional (29-5%) |
| HP:0004408 | Abnormality of the sense of smell | Occasional (29-5%) |
| HP:0005280 | Depressed nasal bridge | Occasional (29-5%) |
| HP:0007036 | Hypoplasia of olfactory tract | Occasional (29-5%) |
Total: 23
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0012245 | Sex reversal | 24 |
| HP:0002652 | Skeletal dysplasia | 11 |
| HP:0000201 | Pierre-Robin sequence | 4 |
| HP:0006487 | Bowing of the long bones | 4 |
| HP:0000882 | Hypoplastic scapulae | 3 |
| HP:0002786 | Tracheobronchomalacia | 2 |
| HP:0005659 | Thoracic kyphoscoliosis | 2 |
| HP:0000121 | Nephrocalcinosis | 1 |
| HP:0000133 | Gonadal dysgenesis | 1 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000256 | Macrocephaly | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000878 | 11 pairs of ribs | 1 |
| HP:0001945 | Fever | 1 |
| HP:0002093 | Respiratory insufficiency | 1 |
| HP:0002098 | Respiratory distress | 1 |
| HP:0002527 | Falls | 1 |
| HP:0002751 | Kyphoscoliosis | 1 |
| HP:0002980 | Femoral bowing | 1 |
| HP:0008443 | Spinal deformities | 1 |
| HP:0010444 | Pulmonary insufficiency | 1 |
| HP:0010459 | True hermaphroditism | 1 |
| HP:0012368 | Flat face | 1 |