| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (70.9%) |
18769091 |
Ellis-van Creveld Syndrome (chondro-ectodermal dysplasia) in two siblings. Shenoy MM, Gopa K, Girisha BS, Pinto J, Shetty V. Kathmandu Univ Med J (KUMJ). 2008;6(2):220-2. |
| Hypodontia Acromesomelia Short forearm | ||
| Child Ellis-Van Creveld Syndrome Homo sapiens Male Polydactyly Sibling | ||
| 2 (66.9%) |
24123776 |
Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients. Lin AE, Traum AZ, Sahai I, Keppler-Noreuil K, Kukolich MK, Adam MP, Westra SJ, Arts HH. Am J Med Genet A. 2013;161A(11):2762-76. |
| Short finger High anterior hairline | ||
| WDR35 | ||
| rs1553316264 rs541910371 | ||
| Bone and Bones Craniosynostosis DNA Mutational Analysis Ectodermal Dysplasia Homo sapiens Infant Infant, Newborn Male Phenotype | ||
| 3 (60.0%) |
21815252 |
Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family. Shen W, Han D, Zhang J, Zhao H, Feng H. Am J Med Genet A. 2011;155A(9):2131-6. |
| Hypodontia Short ribs | ||
| EVC EVC2 | ||
| c|SUB|A|IVS5-2|G c|SUB|C|2653|T;RS#:779407729|146538906 p|SUB|R|885|X;RS#:146538906 rs146538906 | ||
| Base Sequence Child China DNA Mutational Analysis Ellis-Van Creveld Syndrome Females Heterozygote Homo sapiens Intercellular Signaling Peptides and Proteins Limb Deformities, Congenital Mutation Polydactyly Proteins Sequence Analysis, DNA Tooth Abnormalities | ||
| 4 (56.7%) |
22344360 |
Type 1 diabetes in a patient with Ellis-van Creveld syndrome. Graziadio C, Bernardi P, Rosa RF, Zen PR, Paskulin GA. Sao Paulo Med J. 2012;130(1):53-6. |
| High palate Brachydactyly Scoliosis Genu valgum | ||
| TAF1 | ||
| Diabetes Mellitus, Insulin-Dependent Ellis-Van Creveld Syndrome Homo sapiens Male Young Adult | ||
| 5 (49.9%) |
29229899 (5737115) |
Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome. Ibarra-Ramirez M, Campos-Acevedo LD, Lugo-Trampe J, Martinez-Garza LE, Martinez-Glez V, Valencia-Benitez M, Lapunzina P, Ruiz-Perez V. Am J Case Rep. 2017;18:1325-1329. |
| Hypodontia Narrow chest Postaxial polydactyly | ||
| EVC EVC2 WDR35 | ||
| c|SUB|G|1678|T;RS#:764397417 | ||
| Child Codon, Nonsense Ellis-Van Creveld Syndrome Exons Females Homo sapiens Homozygote Infant, Newborn Male Membrane Proteins Mexico Phenotype Proteins Young Adult | ||
| 6 (49.1%) |
27076836 (4810919) |
Ellis-van Creveld syndrome with unusual oral and dental findings: A rare clinical entity. Shaik S, Raviraj J, Dirasantchu S, Venkata SS. Dent Res J (Isfahan). 2016;13(2):193-7. |
| Talon cusp Postaxial polydactyly | ||
| 6 (49.1%) |
19300361 |
Ellis-van Creveld syndrome. Case report and literature review. Alves-Pereira D, Berini-Aytes L, Gay-Escoda C. Med Oral Patol Oral Cir Bucal. 2009;14(7):E340-3. |
| Hypodontia Polydactyly | ||
| Ellis-Van Creveld Syndrome Females Homo sapiens Mouth Abnormalities Phenotype Young Adult | ||
| 6 (49.1%) |
10426602 |
Ellis-van Creveld syndrome: craniofacial morphology and multidisciplinary treatment. Susami T, Kuroda T, Yoshimasu H, Suzuki R. Cleft Palate Craniofac J. 1999;36(4):345-52. |
| Syndactyly Open bite | ||
| Cephalometry Child Combined Modality Therapy Ellis-Van Creveld Syndrome Face Females Homo sapiens Maxillofacial Development | ||
| 6 (49.1%) |
9643193 |
Oral manifestations of Ellis-van Creveld syndrome: report of two siblings with unusual dental anomalies. Hattab FN, Yassin OM, Sasa IS. J Clin Pediatr Dent. 1998;22(2):159-65. |
| Syndactyly Talon cusp | ||
| EVC | ||
| Child Congenital Heart Defects Cuspid Dental Care for Chronically Ill Ellis-Van Creveld Syndrome Females Homo sapiens Incisor Male Tooth Abnormalities Tooth Crowns Tooth, Supernumerary | ||
| 10 (48.8%) |
30556660 |
Ellis-Van Creveld Syndrome and Dandy-Walker Malformation: An Uncommon Association. Boujtat K, Rouf S, Boutahar I, Skiker I, Tajir M, Latrech H. Pediatr Endocrinol Rev. 2018;16(2):275-283. |
| Dandy-Walker malformation Postaxial polydactyly | ||
| Central Nervous System Child Dandy-Walker Syndrome Ellis-Van Creveld Syndrome Homo sapiens Kidney Male Polydactyly |
Total: 51
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000164 | Abnormality of the dentition | Very frequent (99-80%) |
| HP:0000774 | Narrow chest | Very frequent (99-80%) |
| HP:0001161 | Hand polydactyly | Very frequent (99-80%) |
| HP:0001231 | Abnormal fingernail morphology | Very frequent (99-80%) |
| HP:0001508 | Failure to thrive | Very frequent (99-80%) |
| HP:0001595 | Abnormal hair morphology | Very frequent (99-80%) |
| HP:0001597 | Abnormality of the nail | Very frequent (99-80%) |
| HP:0001654 | Abnormal heart valve morphology | Very frequent (99-80%) |
| HP:0001800 | Hypoplastic toenails | Very frequent (99-80%) |
| HP:0001829 | Foot polydactyly | Very frequent (99-80%) |
| HP:0002164 | Nail dysplasia | Very frequent (99-80%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Very frequent (99-80%) |
| HP:0002857 | Genu valgum | Very frequent (99-80%) |
| HP:0002983 | Micromelia | Very frequent (99-80%) |
| HP:0006695 | Atrioventricular canal defect | Very frequent (99-80%) |
| HP:0008921 | Neonatal short-limb short stature | Very frequent (99-80%) |
| HP:0009882 | Short distal phalanx of finger | Very frequent (99-80%) |
| HP:0010306 | Short thorax | Very frequent (99-80%) |
| HP:0011830 | Abnormal oral mucosa morphology | Very frequent (99-80%) |
| HP:0000028 | Cryptorchidism | Frequent (79-30%) |
| HP:0000039 | Epispadias | Frequent (79-30%) |
| HP:0000047 | Hypospadias | Frequent (79-30%) |
| HP:0000069 | Abnormality of the ureter | Frequent (79-30%) |
| HP:0000077 | Abnormality of the kidney | Frequent (79-30%) |
| HP:0000190 | Abnormal oral frenulum morphology | Frequent (79-30%) |
| HP:0000486 | Strabismus | Frequent (79-30%) |
| HP:0000668 | Hypodontia | Frequent (79-30%) |
| HP:0000691 | Microdontia | Frequent (79-30%) |
| HP:0001241 | Capitate-hamate fusion | Frequent (79-30%) |
| HP:0001511 | Intrauterine growth retardation | Frequent (79-30%) |
| HP:0001629 | Ventricular septal defect | Frequent (79-30%) |
| HP:0001631 | Atrial septal defect | Frequent (79-30%) |
| HP:0001651 | Dextrocardia | Frequent (79-30%) |
| HP:0001696 | Situs inversus totalis | Frequent (79-30%) |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | Frequent (79-30%) |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | Frequent (79-30%) |
| HP:0011065 | Conical incisor | Frequent (79-30%) |
| HP:0000008 | Abnormality of female internal genitalia | Occasional (29-5%) |
| HP:0000072 | Hydroureter | Occasional (29-5%) |
| HP:0000233 | Thin vermilion border | Occasional (29-5%) |
| HP:0000684 | Delayed eruption of teeth | Occasional (29-5%) |
| HP:0000924 | Abnormality of the skeletal system | Occasional (29-5%) |
| HP:0001249 | Intellectual disability | Occasional (29-5%) |
| HP:0002097 | Emphysema | Occasional (29-5%) |
| HP:0002488 | Acute leukemia | Occasional (29-5%) |
| HP:0002750 | Delayed skeletal maturation | Occasional (29-5%) |
| HP:0002967 | Cubitus valgus | Occasional (29-5%) |
| HP:0005048 | Synostosis of carpal bones | Occasional (29-5%) |
| HP:0005561 | Abnormality of bone marrow cell morphology | Occasional (29-5%) |
| HP:0008678 | Renal hypoplasia/aplasia | Occasional (29-5%) |
| HP:0011362 | Abnormal hair quantity | Occasional (29-5%) |
Total: 34
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0010442 | Polydactyly | 18 |
| HP:0100259 | Postaxial polydactyly | 12 |
| HP:0002652 | Skeletal dysplasia | 5 |
| HP:0000773 | Short ribs | 4 |
| HP:0000774 | Narrow chest | 2 |
| HP:0001305 | Dandy-Walker malformation | 2 |
| HP:0002857 | Genu valgum | 2 |
| HP:0003498 | Disproportionate short stature | 2 |
| HP:0004322 | Short stature | 2 |
| HP:0011565 | Common atrium | 2 |
| HP:0000100 | Nephrotic syndrome | 1 |
| HP:0000112 | Nephropathy | 1 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000565 | Esotropia | 1 |
| HP:0001629 | Ventricular septal defect | 1 |
| HP:0001804 | Hypoplastic fingernail | 1 |
| HP:0001903 | Anemia | 1 |
| HP:0002164 | Nail dysplasia | 1 |
| HP:0002655 | Spondyloepiphyseal dysplasia | 1 |
| HP:0004389 | Intestinal pseudo-obstruction | 1 |
| HP:0005301 | Persistent left superior vena cava | 1 |
| HP:0006136 | Bilateral postaxial polydactyly | 1 |
| HP:0006644 | Thoracic dysplasia | 1 |
| HP:0008070 | Sparse hair | 1 |
| HP:0008404 | Nail dystrophy | 1 |
| HP:0008905 | Rhizomelia | 1 |
| HP:0010307 | Stridor | 1 |
| HP:0011002 | Osteopetrosis | 1 |
| HP:0030853 | Heterotaxy | 1 |
| HP:0031469 | Low self esteem | 1 |
| HP:0100255 | Metaphyseal dysplasia | 1 |
| HP:0100556 | Hemiatrophy | 1 |
| HP:0100790 | Hernia | 1 |
| HP:0100798 | Fingernail dysplasia | 1 |