| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (72.5%) |
14566439 |
Recessive omodysplasia: five new cases and review of the literature. Elcioglu NH, Gustavson KH, Wilkie AO, Yuksel-Apak M, Spranger JW. Pediatr Radiol. 2004;34(1):75-82. |
| Long philtrum Micromelia Short humerus | ||
| Bone and Bones Child Child, Preschool Females Homo sapiens Male Osteochondrodysplasias | ||
| 2 (58.9%) |
3065771 |
Diastrophic dysplasia: a specific prenatal diagnosis by ultrasound. Gembruch U, Niesen M, Kehrberg H, Hansmann M. Prenat Diagn. 1988;8(7):539-45. |
| Micrognathia Hitchhiker thumb | ||
| Adult Bone Diseases, Developmental Females Fetoscopy Homo sapiens Pregnancy Pregnancy Trimester, Second Ultrasonography | ||
| 3 (57.8%) |
304707 |
[Distal trisomy 15q]. Turleau C, de Grouchy J, Chavin-Colin F, Roubin M. Ann Genet. 1977;20(3):214-6. |
| Dolichocephaly Micrognathia | ||
| Child, Preschool Chromosomes, Human, 13-15 Homo sapiens Infant Infant, Newborn Male Trisomy | ||
| 4 (48.2%) |
20358597 |
A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases. Kim OH, Nishimura G, Song HR, Matsui Y, Sakazume S, Yamada M, Narumi Y, Alanay Y, Unger S, Cho TJ, Park SS, Ikegawa S, Meinecke P, Superti-Furga A. Am J Med Genet A. 2010;152A(4):875-85. |
| Arthritis Short metacarpal | ||
| SLC26A2 | ||
| rs377546036 | ||
| Adult Age Determination by Skeleton Bone Diseases, Developmental Child Child, Preschool Congenital Foot Deformity Congenital Hand Deformities Females Homo sapiens Knee Male Pelvis Sibling Young Adult | ||
| 5 (46.0%) |
15887278 |
Autosomal recessive omodysplasia: early prenatal diagnosis and a possible clue to the gene location. Tan TY, McGillivray G, Kornman L, Fink AM, Superti-Furga A, Bonafe L, Francis DI, Savarirayan R. Am J Med Genet A. 2005;135(3):324-7. |
| Skeletal dysplasia Micromelia Anterolateral radial head dislocation | ||
| SLC26A2 | ||
| Anion Transport Proteins Bone Diseases, Developmental Carrier Proteins Chromosome Banding Chromosomes, Human, Pair 15 Females Genes, Recessive Homo sapiens Infant, Newborn Membrane Transport Proteins Mutation Pregnancy Ultrasonography, Prenatal | ||
| 6 (45.7%) |
23657516 |
Diastrophic dysplasia: prenatal diagnosis and review of the literature. Honorio JC, Bruns RF, Grundtner LF, Raskin S, Ferrari LP, Araujo Junior E, Nardozza LM. Sao Paulo Med J. 2013;131(2):127-32. |
| Skeletal dysplasia Mesomelia | ||
| SLC26A2 | ||
| c|INS|2147_2148|CT c|SUB|C|862|T | ||
| Adult Dwarfism Females Fetal Diseases Homo sapiens Infant, Newborn Male Pregnancy Ultrasonography | ||
| 7 (37.5%) |
11857516 |
Prenatal sonographic diagnosis of diastrophic dwarfism. Tongsong T, Wanapirak C, Sirichotiyakul S, Chanprapaph P. J Clin Ultrasound. 2002;30(2):103-5. |
| Clubbing Hitchhiker thumb Thoracic scoliosis | ||
| Adult Dwarfism Females Homo sapiens Infant, Newborn Male Pregnancy Ultrasonography | ||
| 8 (36.8%) |
9602486 |
Case report: prenatal diagnosis of diastrophic dysplasia by ultrasound at 21 weeks of gestation in a mother with massive obesity. Jung C, Sohn C, Sergi C. Prenat Diagn. 1998;18(4):378-83. |
| Obesity Ulnar deviation of the wrist Thoracic dysplasia Ulnar deviation of the hand | ||
| Adult Bone Diseases, Developmental Differential Diagnosis Dwarfism Females Gestational Age Homo sapiens Obesity Pregnancy Pregnancy Complications Ultrasonography, Prenatal | ||
| 9 (36.1%) |
19144099 (2648951) |
Advanced ossification of the carpal bones, and monkey wrench appearance of the femora, features suggestive of a propable mild form of desbeqious dysplasia: a case report and review of the literature. Al Kaissi A, Radler C, Klaushofer K, Grill F. Cases J. 2009;2(1):45. |
| Hitchhiker thumb Genu valgum | ||
| 10 (35.4%) |
20693580 |
Diastrophic dysplasia in a seven-year-old girl. Case study. Szczepaniak-Kubat A, Tesiorowski M, Merc-Golebiowska Z, Jakubowska-Pietkiewicz E. Ortop Traumatol Rehabil. 2010;12(3):257-63. |
| Hitchhiker thumb | ||
| Bone Diseases, Developmental Cervical Vertebrae Child Females Homo sapiens Limb Deformities, Congenital Neurologic Examination |
Total: 43
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000256 | Macrocephaly | Very frequent (99-80%) |
| HP:0000772 | Abnormality of the ribs | Very frequent (99-80%) |
| HP:0000889 | Abnormality of the clavicle | Very frequent (99-80%) |
| HP:0000944 | Abnormality of the metaphysis | Very frequent (99-80%) |
| HP:0001163 | Abnormality of the metacarpal bones | Very frequent (99-80%) |
| HP:0001511 | Intrauterine growth retardation | Very frequent (99-80%) |
| HP:0002650 | Scoliosis | Very frequent (99-80%) |
| HP:0002983 | Micromelia | Very frequent (99-80%) |
| HP:0003312 | Abnormal form of the vertebral bodies | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0005930 | Abnormality of epiphysis morphology | Very frequent (99-80%) |
| HP:0006487 | Bowing of the long bones | Very frequent (99-80%) |
| HP:0008434 | Hypoplastic cervical vertebrae | Very frequent (99-80%) |
| HP:0008921 | Neonatal short-limb short stature | Very frequent (99-80%) |
| HP:0009381 | Short finger | Very frequent (99-80%) |
| HP:0009623 | Proximal placement of thumb | Very frequent (99-80%) |
| HP:0009748 | Large earlobe | Very frequent (99-80%) |
| HP:0009773 | Symphalangism affecting the phalanges of the hand | Very frequent (99-80%) |
| HP:0011001 | Increased bone mineral density | Very frequent (99-80%) |
| HP:0011800 | Midface retrusion | Very frequent (99-80%) |
| HP:0000175 | Cleft palate | Frequent (79-30%) |
| HP:0000293 | Full cheeks | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Frequent (79-30%) |
| HP:0000396 | Overfolded helix | Frequent (79-30%) |
| HP:0000592 | Blue sclerae | Frequent (79-30%) |
| HP:0001252 | Muscular hypotonia | Frequent (79-30%) |
| HP:0001373 | Joint dislocation | Frequent (79-30%) |
| HP:0001385 | Hip dysplasia | Frequent (79-30%) |
| HP:0001387 | Joint stiffness | Frequent (79-30%) |
| HP:0002093 | Respiratory insufficiency | Frequent (79-30%) |
| HP:0002205 | Recurrent respiratory infections | Frequent (79-30%) |
| HP:0002808 | Kyphosis | Frequent (79-30%) |
| HP:0009465 | Ulnar deviation of finger | Frequent (79-30%) |
| HP:0100490 | Camptodactyly of finger | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000347 | Micrognathia | Occasional (29-5%) |
| HP:0000365 | Hearing impairment | Occasional (29-5%) |
| HP:0000974 | Hyperextensible skin | Occasional (29-5%) |
| HP:0002514 | Cerebral calcification | Occasional (29-5%) |
| HP:0003042 | Elbow dislocation | Occasional (29-5%) |
| HP:0005692 | Joint hyperflexibility | Occasional (29-5%) |
| HP:0100761 | Visceral angiomatosis | Occasional (29-5%) |
Total: 18
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002650 | Scoliosis | 3 |
| HP:0002652 | Skeletal dysplasia | 3 |
| HP:0002947 | Cervical kyphosis | 3 |
| HP:0000926 | Platyspondyly | 2 |
| HP:0001234 | Hitchhiker thumb | 2 |
| HP:0001373 | Joint dislocation | 2 |
| HP:0000268 | Dolichocephaly | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0001155 | Abnormality of the hand | 1 |
| HP:0001217 | Clubbing | 1 |
| HP:0001298 | Encephalopathy | 1 |
| HP:0001513 | Obesity | 1 |
| HP:0001883 | Talipes | 1 |
| HP:0002445 | Tetraplegia | 1 |
| HP:0002808 | Kyphosis | 1 |
| HP:0003099 | Fibular overgrowth | 1 |
| HP:0004565 | Severe platyspondyly | 1 |
| HP:0009487 | Ulnar deviation of the hand | 1 |