| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (45.9%) |
18616733 |
Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4. Steichen-Gersdorf E, Gassner I, Superti-Furga A, Ullmann R, Stricker S, Klopocki E, Mundlos S. Clin Genet. 2008;74(6):560-5. |
| Failure to thrive Fibular aplasia | ||
| AFF3 | ||
| Animals Bone Diseases Chromosome Deletion Chromosomes, Human, Pair 2 Congenital Foot Deformity Females Fibula Gene Expression Regulation, Developmental Homo sapiens In Situ Hybridization Infant Infant, Newborn Mus Nuclear Proteins | ||
| 2 (39.7%) |
2240023 |
Mesomelic dysplasia with absence of fibulae and hexadactyly: Nievergelt syndrome or new syndrome? Petrella R, Ludman MD, Rabinowitz JG, Gilbert F, Hirschhorn K. Am J Med Genet. 1990;37(1):10-4. |
| Radioulnar synostosis | ||
| Dwarfism Fibula Homo sapiens Infant Male Syndrome Toes | ||
| 3 (33.8%) |
967566 |
Symphalangism with metacarpophalangeal fusions and elbow abnormalities. Kassner EG, Katz I, Qazi QH. Pediatr Radiol. 1976;4(2):103-7. |
| Abnormality of the elbow | ||
| Adult Congenital Hand Deformities Elbow Females Fingers Foot Hand Homo sapiens Infant, Newborn Limb Deformities, Congenital Syndrome Terminology as Topic Toes | ||
| 4 (31.0%) |
18085094 |
Longitudinal epiphyseal bracket. Nguyen JQ, Gatewood JB, Beall D, Herndon W, Puffinberger WR, Ly J, Fish JR. J Okla State Med Assoc. 2007;100(10):380-2. |
| Broad metatarsal Hallux varus | ||
| Bone Diseases, Developmental Females Hallux Varus Heterotopic Ossification Homo sapiens Infant, Newborn Magnetic Resonance Imaging | ||
| 4 (31.0%) |
9511977 |
Alice Vance ("Das Barenweib"): a historical case of Nievergelt syndrome. Urban M, Kruger S. Am J Med Genet. 1998;76(2):145-9. |
| Macrodactyly | ||
| Dwarfism Ectromelia Females History, 19th Century History, 20th Century Homo sapiens Male Proteus Syndrome Syndrome | ||
| 6 (28.5%) |
2717950 |
Longitudinal tibial epiphyseal bracket in Nievergelt syndrome. Burnstein MI, De Smet AA, Breed AL, Thomas JR, Hafez GR. Skeletal Radiol. 1989;18(2):121-5. |
| Knee dislocation | ||
| Child, Preschool Dwarfism Females Homo sapiens Magnetic Resonance Imaging Syndrome | ||
| 7 (4.0%) |
11977180 |
Patient with the mesomelic dysplasia, Nievergelt syndrome, and cerebellovermian agenesis and cataracts. Tuysuz B, Zeybek C, Zorer G, Sipahi O, Ungur S. Am J Med Genet. 2002;109(3):206-10. |
| Cataract | ||
| Cataract Cerebellum Fatal Outcome Homo sapiens Infant, Newborn Limb Deformities, Congenital Male Osteochondrodysplasias Syndrome |
Total: 26
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001376 | Limitation of joint mobility | Very frequent (99-80%) |
| HP:0002857 | Genu valgum | Very frequent (99-80%) |
| HP:0002974 | Radioulnar synostosis | Very frequent (99-80%) |
| HP:0002983 | Micromelia | Very frequent (99-80%) |
| HP:0002991 | Abnormality of fibula morphology | Very frequent (99-80%) |
| HP:0002992 | Abnormality of tibia morphology | Very frequent (99-80%) |
| HP:0002997 | Abnormality of the ulna | Very frequent (99-80%) |
| HP:0003027 | Mesomelia | Very frequent (99-80%) |
| HP:0003042 | Elbow dislocation | Very frequent (99-80%) |
| HP:0006501 | Aplasia/Hypoplasia of the radius | Very frequent (99-80%) |
| HP:0008368 | Tarsal synostosis | Very frequent (99-80%) |
| HP:0008845 | Mesomelic short stature | Very frequent (99-80%) |
| HP:0010781 | Skin dimple | Very frequent (99-80%) |
| HP:0100490 | Camptodactyly of finger | Very frequent (99-80%) |
| HP:0000248 | Brachycephaly | Occasional (29-5%) |
| HP:0000268 | Dolichocephaly | Occasional (29-5%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000960 | Sacral dimple | Occasional (29-5%) |
| HP:0001249 | Intellectual disability | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002970 | Genu varum | Occasional (29-5%) |
| HP:0003019 | Abnormality of the wrist | Occasional (29-5%) |
| HP:0004209 | Clinodactyly of the 5th finger | Occasional (29-5%) |
| HP:0006101 | Finger syndactyly | Occasional (29-5%) |
| HP:0007598 | Bilateral single transverse palmar creases | Occasional (29-5%) |
| HP:0100729 | Large face | Occasional (29-5%) |
Total: 2
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000518 | Cataract | 1 |
| HP:0002974 | Radioulnar synostosis | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|