| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (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 | ||
| 2 (57.8%) |
10483547 |
Prenatal diagnosis of thoracopelvic dysplasia. A case report. Hsieh YY, Hsu TY, Lee CC, Chang CC, Tsai HD, Tsai CH. J Reprod Med. 1999;44(8):737-40. |
| Micrognathia | ||
| Adult Asphyxia Neonatorum Chest Females Fetal Diseases Homo sapiens Infant, Newborn Male Osteochondrodysplasias Pelvis Pregnancy Pregnancy Outcome Ultrasonography, Prenatal | ||
| 3 (51.6%) |
10705117 |
[Pigmentosum retinis and tubulo-interstitial nephronophtisis in Sensenbrenner syndrome: a case report]. Costet C, Betis F, Berard E, Tsimaratos M, Sigaudy S, Antignac C, Gastaud P. J Fr Ophtalmol. 2000;23(2):158-60. |
| Hypertension Short finger | ||
| NXPH1 | ||
| Child Chromosome Aberrations Ectodermal Dysplasia Females Genes, Recessive Homo sapiens Kidney Nephritis, Interstitial Retinitis Pigmentosa Syndrome | ||
| 4 (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 | ||
| 5 (45.7%) |
26124900 (4463774) |
Antenatal Diagnosis of Jeune Syndrome (Asphyxiating Thoracic Dysplasia) with Micromelia and Facial Dysmorphism on Second-Trimester Ultrasound. Mistry KA, Suthar PP, Bhesania SR, Patel A. Pol J Radiol. 2015;80:296-9. |
| Micromelia | ||
| 6 (43.2%) |
22105337 |
Prenatal diagnosis of Jeune-like syndromes with two-dimensional and three-dimensional sonography. Rahmani R, Sterling CL, Bedford HM. J Clin Ultrasound. 2012;40(4):222-6. |
| Short ribs | ||
| Adult Bone and Bones Ellis-Van Creveld Syndrome Females Homo sapiens Imaging, Three-Dimensional Male Pregnancy Short Rib-Polydactyly Syndrome Ultrasonography, Prenatal | ||
| 6 (43.2%) |
10710229 |
Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder. Ho NC, Francomano CA, van Allen M. Am J Med Genet. 2000;90(4):310-4. |
| Ambiguous genitalia Short ribs | ||
| rs1238325809 rs869312924 | ||
| Asphyxia Neonatorum Child Females Homo sapiens Infant, Newborn Male Osteochondrodysplasias Polydactyly Ultrasonography | ||
| 6 (43.2%) |
8723090 |
Jeune syndrome with tongue lobulation and preaxial polydactyly, and Jeune syndrome with situs inversus and asplenia: compound heterozygosity Jeune-Mohr and Jeune-Ivemark? Majewski E, Ozturk B, Gillessen-Kaesbach G. Am J Med Genet. 1996;63(1):74-9. |
| Hypospadias Short ribs | ||
| Adult Differential Diagnosis Females Heterozygote Homo sapiens Hydrocephalus Infant, Newborn Male Orofaciodigital Syndromes Polydactyly Syndrome Tongue | ||
| 6 (43.2%) |
7468648 |
Short rib-polydactyly syndrome, type 3 with chondrocytic inclusions: report of a case and review of the literature. Yang SS, Lin CS, Al Saadi A, Nangia BS, Bernstein J. Am J Med Genet. 1980;7(2):205-13. |
| Short ribs | ||
| Bone Diseases, Developmental Bone and Bones Differential Diagnosis Dwarfism Electron Microscopy Females Fingers Homo sapiens Infant, Newborn Syndrome | ||
| 10 (37.5%) |
19610081 |
Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients. Tuysuz B, Baris S, Aksoy F, Madazli R, Ungur S, Sever L. Am J Med Genet A. 2009;149A(8):1727-33. |
| Brachydactyly Bell-shaped thorax | ||
| rs137853115 rs138081429 rs587777096 | ||
| Asphyxia Autopsy Child Child, Preschool Fatal Outcome Females Fetus Homo sapiens Infant Male Sibling Syndrome Thoracic Diseases |
Total: 24
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000772 | Abnormality of the ribs | Very frequent (99-80%) |
| HP:0000774 | Narrow chest | Very frequent (99-80%) |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | Very frequent (99-80%) |
| HP:0002652 | Skeletal dysplasia | Very frequent (99-80%) |
| HP:0002983 | Micromelia | Very frequent (99-80%) |
| HP:0010306 | Short thorax | Very frequent (99-80%) |
| HP:0000766 | Abnormality of the sternum | Frequent (79-30%) |
| HP:0000889 | Abnormality of the clavicle | Frequent (79-30%) |
| HP:0000944 | Abnormality of the metaphysis | Frequent (79-30%) |
| HP:0001156 | Brachydactyly | Frequent (79-30%) |
| HP:0001773 | Short foot | Frequent (79-30%) |
| HP:0002093 | Respiratory insufficiency | Frequent (79-30%) |
| HP:0010579 | Cone-shaped epiphysis | Frequent (79-30%) |
| HP:0000083 | Renal insufficiency | Occasional (29-5%) |
| HP:0000090 | Nephronophthisis | Occasional (29-5%) |
| HP:0000112 | Nephropathy | Occasional (29-5%) |
| HP:0001162 | Postaxial hand polydactyly | Occasional (29-5%) |
| HP:0001392 | Abnormality of the liver | Occasional (29-5%) |
| HP:0001770 | Toe syndactyly | Occasional (29-5%) |
| HP:0001830 | Postaxial foot polydactyly | Occasional (29-5%) |
| HP:0004322 | Short stature | Occasional (29-5%) |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | Occasional (29-5%) |
| HP:0007703 | Abnormality of retinal pigmentation | Occasional (29-5%) |
| HP:0008872 | Feeding difficulties in infancy | Occasional (29-5%) |
Total: 25
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0006644 | Thoracic dysplasia | 8 |
| HP:0002098 | Respiratory distress | 5 |
| HP:0002878 | Respiratory failure | 5 |
| HP:0002652 | Skeletal dysplasia | 3 |
| HP:0010442 | Polydactyly | 3 |
| HP:0000774 | Narrow chest | 2 |
| HP:0004322 | Short stature | 2 |
| HP:0000083 | Renal insufficiency | 1 |
| HP:0000572 | Visual loss | 1 |
| HP:0000822 | Hypertension | 1 |
| HP:0001395 | Hepatic fibrosis | 1 |
| HP:0001396 | Cholestasis | 1 |
| HP:0001746 | Asplenia | 1 |
| HP:0002099 | Asthma | 1 |
| HP:0002579 | Gastrointestinal dysmotility | 1 |
| HP:0002650 | Scoliosis | 1 |
| HP:0002783 | Recurrent lower respiratory tract infections | 1 |
| HP:0002904 | Hyperbilirubinemia | 1 |
| HP:0002983 | Micromelia | 1 |
| HP:0005257 | Thoracic hypoplasia | 1 |
| HP:0008443 | Spinal deformities | 1 |
| HP:0010454 | Acetabular spurs | 1 |
| HP:0011947 | Respiratory tract infection | 1 |
| HP:0100258 | Preaxial polydactyly | 1 |
| HP:0100732 | Pancreatic fibrosis | 1 |
Total: 10
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|---|---|
| DYNC2LI1 | dynein cytoplasmic 2 light intermediate chain 1 | 51626 |
| IFT80 | intraflagellar transport 80 | 57560 |
| DYNC2H1 | dynein cytoplasmic 2 heavy chain 1 | 79659 |
| TTC21B | tetratricopeptide repeat domain 21B | 79809 |
| WDR19 | WD repeat domain 19 | 57728 |
| IFT140 | intraflagellar transport 140 | 9742 |
| WDR60 | WD repeat domain 60 | 55112 |
| IFT172 | intraflagellar transport 172 | 26160 |
| WDR34 | WD repeat domain 34 | 89891 |
| CEP120 | centrosomal protein 120 | 153241 |