| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (37.2%) |
1768446 |
[Congenital atonic-sclerotic muscular dystrophy (Ullrich disease)]. Fernandez M, Pacheco M, Garaizar C, Prats JM. Neurologia. 1991;6(7):259-62. |
| Torticollis Kyphoscoliosis | ||
| Follow-Up Studies Genes, Recessive Homo sapiens Infant, Newborn Male Muscle Tissue Muscular Dystrophy Respiratory Insufficiency | ||
| 2 (17.5%) |
12297580 |
Ullrich disease: collagen VI deficiency: EM suggests a new basis for muscular weakness. Ishikawa H, Sugie K, Murayama K, Ito M, Minami N, Nishino I, Nonaka I. Neurology. 2002;59(6):920-3. |
| Generalized muscle weakness | ||
| Child, Preschool Collagen Diseases Collagen Type VI Electron Microscopy Homo sapiens Male Muscle Weakness Muscular Dystrophy Mutation | ||
| 2 (17.5%) |
3239582 |
Late onset scleroatonic familial myopathy (Ullrich disease): a study of two sibs. Ricci E, Bertini E, Boldrini R, Sabatelli M, Servidei S, Mazziotta MR, Bosman C, Tonali P. Am J Med Genet. 1988;31(4):933-42. |
| Decreased response to growth hormone stimuation test Myopathy | ||
| GH1 | ||
| Child Females Homo sapiens Male Muscle Tissue Muscular Dystrophy Sclerosis Spinal Cord | ||
| 2 (17.5%) |
2043373 |
[A case of Ullrich disease with distinct pathological change of muscular dystrophy]. Goto A, Ishida A, Kobayashi Y, Takada G. No To Hattatsu. 1991;23(3):289-93. |
| Subcutaneous hemorrhage Generalized muscle weakness | ||
| PIK3C2A | ||
| Child, Preschool Females Homo sapiens Muscular Dystrophy Sex Chromosome Aberrations |
Total: 31
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000174 | Abnormal palate morphology | Very frequent (99-80%) |
| HP:0001371 | Flexion contracture | Very frequent (99-80%) |
| HP:0002808 | Kyphosis | Very frequent (99-80%) |
| HP:0003236 | Elevated serum creatine kinase | Very frequent (99-80%) |
| HP:0003306 | Spinal rigidity | Very frequent (99-80%) |
| HP:0003324 | Generalized muscle weakness | Very frequent (99-80%) |
| HP:0003458 | EMG: myopathic abnormalities | Very frequent (99-80%) |
| HP:0003557 | Increased variability in muscle fiber diameter | Very frequent (99-80%) |
| HP:0004303 | Abnormal muscle fiber morphology | Very frequent (99-80%) |
| HP:0005072 | Hyperextensibility at wrists | Very frequent (99-80%) |
| HP:0006149 | Increased laxity of fingers | Very frequent (99-80%) |
| HP:0100297 | Increased endomysial connective tissue | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000470 | Short neck | Frequent (79-30%) |
| HP:0000473 | Torticollis | Frequent (79-30%) |
| HP:0000565 | Esotropia | Frequent (79-30%) |
| HP:0001181 | Adducted thumb | Frequent (79-30%) |
| HP:0001238 | Slender finger | Frequent (79-30%) |
| HP:0001290 | Generalized hypotonia | Frequent (79-30%) |
| HP:0001324 | Muscle weakness | Frequent (79-30%) |
| HP:0001558 | Decreased fetal movement | Frequent (79-30%) |
| HP:0002359 | Frequent falls | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0002827 | Hip dislocation | Frequent (79-30%) |
| HP:0002878 | Respiratory failure | Frequent (79-30%) |
| HP:0002987 | Elbow flexion contracture | Frequent (79-30%) |
| HP:0003700 | Generalized amyotrophy | Frequent (79-30%) |
| HP:0006380 | Knee flexion contracture | Frequent (79-30%) |
| HP:0008081 | Pes valgus | Frequent (79-30%) |
| HP:0009113 | Diaphragmatic weakness | Frequent (79-30%) |
| HP:0010511 | Long toe | Frequent (79-30%) |
Total: 1
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0003198 | Myopathy | 1 |