| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (32.7%) |
10678656 |
Spondylometaphyseal dysplasia: Sedaghatian type. Koutouby A, Habibullah J, Moinuddin FA. Am J Med Genet. 2000;90(3):199-202. |
| Metaphyseal chondrodysplasia | ||
| Clinical Chemistry Tests Electroencephalography Homo sapiens Infant, Newborn Male Osteochondrodysplasias | ||
| 2 (30.2%) |
9556300 |
Spondylometaphyseal dysplasia-Sedaghatian type. Elcioglu N, Hall CM. Am J Med Genet. 1998;76(5):410-4. |
| Long fibula | ||
| Bone and Bones Fatal Outcome Females Fetal Death Fibula Fingers Genes, Recessive Homo sapiens Infant Infant, Newborn Male Osteochondrodysplasias | ||
| 3 (21.2%) |
19508970 (4144354) |
Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases. Furuichi T, Kayserili H, Hiraoka S, Nishimura G, Ohashi H, Alanay Y, Lerena JC, Aslanger AD, Koseki H, Cohn DH, Superti-Furga A, Unger S, Ikegawa S. J Med Genet. 2009;46(8):562-8. |
| Skeletal dysplasia | ||
| SLC35D1 | ||
| c|SUB|A|193|C;RS#:267607062 c|SUB|A|IVS4+3|G c|SUB|C|319|T;RS#:267607063 p|FS|L|109||18 p|FS|R|178||15 p|SUB|R|107|X;RS#:267607063 p|SUB|T|65|P;RS#:267607062 rs267607062 rs267607063 | ||
| Base Sequence Bone Diseases, Developmental Cloning, Molecular Females Fetal Diseases Gene Deletion Homo sapiens Male Molecular Sequence Data Monosaccharide Transport Proteins Mutation Nucleotides Polymerase Chain Reaction Pregnancy Saccharomyces cerevisiae Sequence Alignment | ||
| 4 (4.0%) |
10955475 |
Spondylometaphyseal dysplasia Sedaghatian type associated with lethal arrhythmia and normal intrauterine growth in three siblings. Kerr B, Smith V, Patel R, Ladusans E, Sillence DO. Clin Dysmorphol. 2000;9(3):167-72. |
| Arrhythmia | ||
| Cardiac Arrhythmia Embryonic and Fetal Development Fatal Outcome Homo sapiens Infant, Newborn Male Nuclear Family Osteochondrodysplasias | ||
| 4 (4.0%) |
1481828 |
Spondylometaphyseal dysplasia, Sedaghatian type. Peeden JN Jr, Rimoin DL, Lachman RS, Dyer ML, Gerard D, Gruber HE. Am J Med Genet. 1992;44(5):651-6. |
| Myocarditis | ||
| Bone and Bones Heart Block Homo sapiens Infant, Newborn Male Osteochondrodysplasias |
Total: 25
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000772 | Abnormality of the ribs | Very frequent (99-80%) |
| HP:0000782 | Abnormality of the scapula | Very frequent (99-80%) |
| HP:0000926 | Platyspondyly | Very frequent (99-80%) |
| HP:0001678 | Atrioventricular block | Very frequent (99-80%) |
| HP:0002657 | Spondylometaphyseal dysplasia | Very frequent (99-80%) |
| HP:0002750 | Delayed skeletal maturation | Very frequent (99-80%) |
| HP:0003085 | Long fibula | Very frequent (99-80%) |
| HP:0003498 | Disproportionate short stature | Very frequent (99-80%) |
| HP:0004279 | Short palm | Very frequent (99-80%) |
| HP:0004991 | Rhizomelic arm shortening | Very frequent (99-80%) |
| HP:0005871 | Metaphyseal chondrodysplasia | Very frequent (99-80%) |
| HP:0006543 | Cardiorespiratory arrest | Very frequent (99-80%) |
| HP:0008786 | Iliac crest serration | Very frequent (99-80%) |
| HP:0010049 | Short metacarpal | Very frequent (99-80%) |
| HP:0011675 | Arrhythmia | Very frequent (99-80%) |
| HP:0000262 | Turricephaly | Frequent (79-30%) |
| HP:0000774 | Narrow chest | Frequent (79-30%) |
| HP:0001290 | Generalized hypotonia | Frequent (79-30%) |
| HP:0001321 | Cerebellar hypoplasia | Frequent (79-30%) |
| HP:0002093 | Respiratory insufficiency | Frequent (79-30%) |
| HP:0001274 | Agenesis of corpus callosum | Occasional (29-5%) |
| HP:0001302 | Pachygyria | Occasional (29-5%) |
| HP:0005616 | Accelerated skeletal maturation | Occasional (29-5%) |
| HP:0010579 | Cone-shaped epiphysis | Occasional (29-5%) |
| HP:0012819 | Myocarditis | Occasional (29-5%) |
Total: 1
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0011675 | Arrhythmia | 1 |