| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (61.3%) |
26707040 |
Rubinstein-Taybi Syndrome in a 19-years old boy. Zwierzchowski TJ, Przedborska A, Wilmanska I, Raczkowski JW. Neuro Endocrinol Lett. 2015;36(5):417-20. |
| Microcephaly Micrognathia Broad thumb | ||
| CREBBP | ||
| Craniofacial Abnormalities Foot Deformities Homo sapiens Male Microcephaly Rubinstein-Taybi Syndrome Young Adult | ||
| 2 (61.0%) |
22991195 |
Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients. Ruggieri M, Milone P, Pavone P, Falsaperla R, Polizzi A, Caltabiano R, Fichera M, Gabriele AL, Distefano A, De Pasquale R, Salpietro V, Micali G, Pavone L. Am J Med Genet A. 2012;158A(11):2870-80. |
| Facial asymmetry Hemiatrophy | ||
| RASA1 | ||
| Adult Brain Females Homo sapiens Intracranial Arteriovenous Malformation Magnetic Resonance Angiography Magnetic Resonance Imaging Male Nevus Skin | ||
| 3 (54.9%) |
29383823 |
Perthes disease: A new finding in Floating-Harbor syndrome. Milani D, Scuvera G, Gatti M, Tolva G, Bonarrigo F, Esposito S, Gervasini C. Am J Med Genet A. 2018;176(3):703-706. |
| Triangular face Broad thumb | ||
| CREBBP SMARCA4 SRCAP | ||
| Adenosine Triphosphatases Alleles Child, Preschool Craniofacial Abnormalities DNA Mutational Analysis Differential Diagnosis Facies Females Fluorescent in Situ Hybridization Genetic Association Studies Genetic Predisposition to Disease Growth Disorders Homo sapiens Legg-Calve-Perthes Disease Mutation Phenotype Rubinstein-Taybi Syndrome Ventricular Septal Defects | ||
| 4 (48.8%) |
7038349 |
[Trichorhinophalangeal syndrome (Giedion)]. Ferrando J, Del Olmo JA, Bassas J, Fernandez E, Fontarnau R. Med Cutan Ibero Lat Am. 1981;9(5):351-60. |
| Pear-shaped nose Cone-shaped epiphysis | ||
| Adult Alopecia Bone Diseases, Developmental Child, Preschool Differential Diagnosis Females Homo sapiens Hypotrichosis Male Nose Syndrome | ||
| 5 (45.9%) |
23148394 |
Perthes' disease and femoroacetabular impingement in a child with proximal femoral focal deficiency. Pun T, Stokes OM, Chow W, To M. BMJ Case Rep. 2012;2012:. |
| Hip dislocation Proximal femoral focal deficiency | ||
| Child Child, Preschool Females Femoracetabular Impingement Femur Follow-Up Studies Homo sapiens Iatrogenic Disease Infant Infant, Newborn Leg Length Inequality Legg-Calve-Perthes Disease Osteotomy Postoperative Complications Repeat Surgery | ||
| 6 (42.7%) |
22565194 |
A novel de novo deletion of chromosome 7 [46,XX,del(7)(p14.2 p15.1)] in a child with feeding problems. Antunes H, Goncalves JP, Silva E, Teles N. Gene. 2012;503(1):152-4. |
| Retrognathia | ||
| Child Chromosome Aberrations Chromosomes, Human, Pair 7 Feeding and Eating Disorders of Childhood Females Homo sapiens Legg-Calve-Perthes Disease Psychomotor Disorders Sequence Deletion Speech Disorders | ||
| 7 (39.0%) |
22222936 |
Microcephaly associated with Legg-Calve-Perthes disease in two siblings. Savasta S, Ruggieri M, Pavone P, Pratico AD, Polizzi A, Beluffi G, Pavone V. Neurol Sci. 2012;33(6):1401-5. |
| Microcephaly | ||
| Child Females Homo sapiens Legg-Calve-Perthes Disease Male Microcephaly Sibling | ||
| 8 (34.8%) |
17394201 |
Martsolf syndrome in Japanese siblings. Ehara H, Utsunomiya Y, Ieshima A, Maegaki Y, Nishimura G, Takeshita K, Ohno K. Am J Med Genet A. 2007;143A(9):973-8. |
| Hypogonadism Scoliosis Epiphyseal dysplasia Osteopathia striata | ||
| GNRH1 | ||
| Adult Bone Diseases, Developmental Cataract Females Homo sapiens Intellectual Disability Japan Male Sibling Syndrome | ||
| 9 (34.4%) |
16804649 |
The use of irradiated allograft in a paediatric population: an Indian experience. Johari A, Shingade V, Gajiwala AL, Shah V, D'Lima C. Cell Tissue Bank. 2007;8(1):13-22. |
| Scoliosis Pseudoarthrosis | ||
| Bone Transplantation Child Child, Preschool Cyst Females Gamma Rays Homo sapiens India Intraoperative Care Male Postoperative Care Spinal Diseases Transplantation, Homologous | ||
| 10 (32.7%) |
12966296 |
Does it always have to be Perthes' disease? What is epiphyseal dysplasia? Hesse B, Kohler G. Clin Orthop Relat Res. 2003;(414):219-27. |
| Skeletal dysplasia Epiphyseal dysplasia Coxa vara | ||
| Child Differential Diagnosis Hip Joint Homo sapiens Male Osteochondrodysplasias Range of Motion, Articular |
Total: 8
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000164 | Abnormality of the dentition | Very frequent (99-80%) |
| HP:0001373 | Joint dislocation | Very frequent (99-80%) |
| HP:0002750 | Delayed skeletal maturation | Very frequent (99-80%) |
| HP:0002829 | Arthralgia | Very frequent (99-80%) |
| HP:0003202 | Skeletal muscle atrophy | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0010885 | Avascular necrosis | Very frequent (99-80%) |
| HP:0100773 | Cartilage destruction | Very frequent (99-80%) |
Total: 43
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0003095 | Septic arthritis | 6 |
| HP:0100769 | Synovitis | 5 |
| HP:0002656 | Epiphyseal dysplasia | 4 |
| HP:0002754 | Osteomyelitis | 4 |
| HP:0002655 | Spondyloepiphyseal dysplasia | 3 |
| HP:0030838 | Hip pain | 3 |
| HP:0000821 | Hypothyroidism | 2 |
| HP:0001369 | Arthritis | 2 |
| HP:0001909 | Leukemia | 2 |
| HP:0002758 | Osteoarthritis | 2 |
| HP:0002812 | Coxa vara | 2 |
| HP:0008807 | Acetabular dysplasia | 2 |
| HP:0000100 | Nephrotic syndrome | 1 |
| HP:0000252 | Microcephaly | 1 |
| HP:0000324 | Facial asymmetry | 1 |
| HP:0000639 | Nystagmus | 1 |
| HP:0000819 | Diabetes mellitus | 1 |
| HP:0000979 | Purpura | 1 |
| HP:0001159 | Syndactyly | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0001385 | Hip dysplasia | 1 |
| HP:0001513 | Obesity | 1 |
| HP:0002301 | Hemiplegia | 1 |
| HP:0002650 | Scoliosis | 1 |
| HP:0002721 | Immunodeficiency | 1 |
| HP:0002808 | Kyphosis | 1 |
| HP:0002827 | Hip dislocation | 1 |
| HP:0002857 | Genu valgum | 1 |
| HP:0002944 | Thoracolumbar scoliosis | 1 |
| HP:0003302 | Spondylolisthesis | 1 |
| HP:0003304 | Spondylolysis | 1 |
| HP:0008843 | Hip osteoarthritis | 1 |
| HP:0010740 | Osteopathia striata | 1 |
| HP:0011002 | Osteopetrosis | 1 |
| HP:0012062 | Bone cyst | 1 |
| HP:0030431 | Osteochondroma | 1 |
| HP:0030772 | Proximal femoral focal deficiency | 1 |
| HP:0030836 | Wrist pain | 1 |
| HP:0030839 | Knee pain | 1 |
| HP:0100259 | Postaxial polydactyly | 1 |
| HP:0100646 | Thyroiditis | 1 |
| HP:0100777 | Exostoses | 1 |
| HP:0100806 | Sepsis | 1 |