| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (51.6%) |
21812358 |
[The "heart-hand" syndrome in a 8-year-old-boy with short stature]. Petriczko E, Horodnicka-Jozwa A, Prowans P, Biczysko-Mokosa A, Szmit-Domagalska J, Dawid G, Walczak M, Zajaczek S. Wiad Lek. 2011;64(1):15-21. |
| Triphalangeal thumb Short distal phalanx of the thumb | ||
| Atrial Septal Defects Child Child, Preschool Congenital Heart Defects Homo sapiens Lower Extremity Deformities, Congenital Male Upper Extremity Deformities, Congenital | ||
| 2 (35.3%) |
1976459 |
Heart-hand syndrome II. A report of Tabatznik syndrome with new findings. Silengo MC, Biagioli M, Guala A, Lopez-Bell G, Lala R. Clin Genet. 1990;38(2):105-13. |
| Type D brachydactyly | ||
| Adult Cardiac Arrhythmia Child Child, Preschool Chromosome Banding Congenital Hand Deformities Congenital Heart Defects Cryptorchidism Females Homo sapiens Male Syndrome | ||
| 3 (4.0%) |
3128111 |
Congenital optic atrophy and brachytelephalangy: the Berk-Tabatznik syndrome. Hartwell EA, Robinson LK, Robinson LH, Aceves J. Am J Med Genet. 1988;29(2):383-9. |
| Optic atrophy | ||
| Deafness Eye Abnormalities Fingers Growth Disorders Homo sapiens Male Syndrome Vision Disorders |
Total: 25
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000889 | Abnormality of the clavicle | Very frequent (99-80%) |
| HP:0001156 | Brachydactyly | Very frequent (99-80%) |
| HP:0001387 | Joint stiffness | Very frequent (99-80%) |
| HP:0002983 | Micromelia | Very frequent (99-80%) |
| HP:0002997 | Abnormality of the ulna | Very frequent (99-80%) |
| HP:0003043 | Abnormality of the shoulder | Very frequent (99-80%) |
| HP:0003063 | Abnormality of the humerus | Very frequent (99-80%) |
| HP:0006501 | Aplasia/Hypoplasia of the radius | Very frequent (99-80%) |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | Very frequent (99-80%) |
| HP:0009811 | Abnormality of the elbow | Very frequent (99-80%) |
| HP:0011675 | Arrhythmia | Very frequent (99-80%) |
| HP:0001161 | Hand polydactyly | Frequent (79-30%) |
| HP:0001163 | Abnormality of the metacarpal bones | Frequent (79-30%) |
| HP:0010044 | Short 4th metacarpal | Frequent (79-30%) |
| HP:0010047 | Short 5th metacarpal | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000164 | Abnormality of the dentition | Occasional (29-5%) |
| HP:0000174 | Abnormal palate morphology | Occasional (29-5%) |
| HP:0001249 | Intellectual disability | Occasional (29-5%) |
| HP:0001555 | Asymmetry of the thorax | Occasional (29-5%) |
| HP:0002162 | Low posterior hairline | Occasional (29-5%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Occasional (29-5%) |
| HP:0003019 | Abnormality of the wrist | Occasional (29-5%) |
| HP:0009908 | Anterior creases of earlobe | Occasional (29-5%) |
| HP:0100556 | Hemiatrophy | Occasional (29-5%) |
Total: 3
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000648 | Optic atrophy | 1 |
| HP:0009650 | Short distal phalanx of the thumb | 1 |
| HP:0011675 | Arrhythmia | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|