| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (59.9%) |
27530878 |
Tibial hypoplasia with a bifid tibia: an unclassified tibial hemimelia. Shah K, Shah H. BMJ Case Rep. 2016;2016:. |
| Brachycephaly Triphalangeal thumb Micromelia | ||
| Congenital Foot Deformity Congenital Hand Deformities Ectromelia Homo sapiens Infant Male | ||
| 2 (52.0%) |
9028454 |
Limb anomalies in DiGeorge and CHARGE syndromes. Prasad C, Quackenbush EJ, Whiteman D, Korf B. Am J Med Genet. 1997;68(2):179-81. |
| Facial palsy Finger clinodactyly | ||
| Choanal Atresia Chromosomes, Human, Pair 22 Congenital Heart Defects DiGeorge Syndrome Ectromelia Females Fluorescent in Situ Hybridization Genitalia Growth Disorders Homo sapiens Infant, Newborn Limb Deformities, Congenital Male Sequence Deletion Syndactyly | ||
| 3 (51.2%) |
24838992 |
A child with split-hand/foot associated with tibial hemimelia (SHFLD syndrome) and thrombocytopenia maps to chromosome region 17p13.3. Al Kaissi A, Ganger R, Rotzer KM, Klaushofer K, Grill F. Am J Med Genet A. 2014;164A(9):2338-43. |
| Full cheeks Split hand | ||
| SON | ||
| Child Child, Preschool Chromosome Mapping Chromosomes, Human, Pair 17 Ectromelia Family Homo sapiens Limb Deformities, Congenital Male Oligonucleotide Array Sequence Analysis Thrombocytopenia | ||
| 4 (45.9%) |
11055885 |
Tibial hemimelia, meningocele, and abdominal hernia in Shorthorn cattle. Lapointe JM, Lachance S, Steffen DJ. Vet Pathol. 2000;37(5):508-11. |
| Meningocele Absent tibia | ||
| Animals Cattle Cattle Diseases Ectromelia Females Male Ventral Hernia | ||
| 5 (35.4%) |
22314436 |
Tibial hemimelia-polydactyly-five-fingered hand syndrome associated with a 404 G>A mutation in a distant sonic hedgehog cis-regulator (ZRS): a case report. Cho TJ, Baek GH, Lee HR, Moon HJ, Yoo WJ, Choi IH. J Pediatr Orthop B. 2013;22(3):219-21. |
| Triphalangeal thumb | ||
| c|SUB|G|404|A | ||
| Ectromelia Fingers Gene Expression Regulation, Developmental Hedgehog Proteins Homo sapiens Infant, Newborn Male Point Mutation Polydactyly Rare Diseases Syndrome | ||
| 5 (35.4%) |
2147335 |
[Mesomelic dysplasia: presentation of a case and literature of Werner's syndrome]. Hesselschwerdt HJ, Heisel J. Z Orthop Ihre Grenzgeb. 1990;128(5):466-72. |
| Triphalangeal thumb | ||
| Bone Diseases, Developmental Congenital Foot Deformity Congenital Hand Deformities Females Homo sapiens Syndrome | ||
| 7 (34.6%) |
15127770 |
Bilateral congenital longitudinal deficiency of the tibia associated with split hand and atrial septal defect. Cerrahoglu K, Izci Y, Apaydin O, Torun T. Clin Dysmorphol. 2004;13(1):51-2. |
| Split hand | ||
| Atrial Septal Defects Congenital Hand Deformities Electrocardiography Homo sapiens Male | ||
| 7 (34.6%) |
3425598 |
Tibial hemimelia: report on 37 new cases, clinical and genetic considerations. Richieri-Costa A, Ferrareto I, Masiero D, da Silva CR. Am J Med Genet. 1987;27(4):867-84. |
| Split hand | ||
| Adult Child Child, Preschool Congenital Foot Deformity Congenital Hand Deformities Females Homo sapiens Infant Infant, Newborn Male Phenotype | ||
| 9 (31.0%) |
31211748 |
Lower Extremity Surgical Treatment to Improve Function in a Patient with Gollop-Wolfgang Complex: A Case Report. Albright P, Veenstra J, Habeck J, Bovid K. JBJS Case Connect. 2019;9(2):e0254. |
| Polydactyly | ||
| African American Aftercare Congenital Hand Deformities Ectromelia Femur Foot Orthoses Homo sapiens Infant Lower Extremity Male | ||
| 9 (31.0%) |
28035313 (5156877) |
Rare case of tibial hemimelia, preaxial polydactyly, and club foot. Granite G, Herzenberg JE, Wade R. World J Clin Cases. 2016;4(12):401-408. |
| Talipes equinovarus Preaxial polydactyly | ||
Total: 0
| HPO ID | Term | Frequency |
|---|
Total: 17
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0100258 | Preaxial polydactyly | 6 |
| HP:0001171 | Split hand | 4 |
| HP:0001199 | Triphalangeal thumb | 3 |
| HP:0010442 | Polydactyly | 3 |
| HP:0100790 | Hernia | 2 |
| HP:0000062 | Ambiguous genitalia | 1 |
| HP:0000248 | Brachycephaly | 1 |
| HP:0001762 | Talipes equinovarus | 1 |
| HP:0001829 | Foot polydactyly | 1 |
| HP:0001839 | Split foot | 1 |
| HP:0001873 | Thrombocytopenia | 1 |
| HP:0002435 | Meningocele | 1 |
| HP:0002754 | Osteomyelitis | 1 |
| HP:0002937 | Hemivertebrae | 1 |
| HP:0002983 | Micromelia | 1 |
| HP:0012385 | Camptodactyly | 1 |
| HP:0040019 | Finger clinodactyly | 1 |