| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (21.2%) |
27353973 |
Usefulness of fetal autopsy in the diagnosis of blomstrand chondrodysplasia: a report of three cases. Beena S, Murlidhar L, Seshadri S, Jagadeesh S, Suresh I. J Matern Fetal Neonatal Med. 2017;30(9):1041-1044. |
| Polyhydramnios Skeletal dysplasia | ||
| PTH1R | ||
| Autopsy Females Femur Fetal Death Gestational Age Hereditary Multiple Exostoses Homo sapiens Male Mutation Osteochondrodysplasias Parathyroid Hormone Receptor | ||
| 1 (21.2%) |
15525660 |
Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes. Duchatelet S, Ostergaard E, Cortes D, Lemainque A, Julier C. Hum Mol Genet. 2005;14(1):1-5. |
| Skeletal dysplasia | ||
| PTH PTH1R PTHLH | ||
| rs121434603 | ||
| Amino Acid Sequence Bone Diseases, Developmental Enchondromatosis Females Genes, Recessive Hereditary Multiple Exostoses Homo sapiens Male Parathyroid Hormone Receptor Sequence Deletion | ||
| 1 (21.2%) |
10664159 |
Blomstrand osteochondrodysplasia: three novel cases and histological evidence for heterogeneity. Oostra RJ, van der Harten JJ, Rijnders WP, Scott RJ, Young MP, Trump D. Virchows Arch. 2000;436(1):28-35. |
| Lethal skeletal dysplasia | ||
| Adult Bone Density Females Fetal Death Gestational Age Homo sapiens Infant, Newborn Male Osteochondrodysplasias Osteosclerosis Pregnancy | ||
| 1 (21.2%) |
10552065 |
Blomstrand chondrodysplasia: a lethal sclerosing skeletal dysplasia. Case report and review. Galera MF, de Silva Patricio FR, Lederman HM, Porciuncula CG, Lopes Monlleo I, Brunoni D. Pediatr Radiol. 1999;29(11):842-5. |
| Skeletal dysplasia | ||
| Adult Females Fetal Death Genes, Lethal Genes, Recessive Homo sapiens Osteochondrodysplasias Osteosclerosis Pregnancy | ||
| 1 (21.2%) |
10523019 |
A frame-shift mutation in the type I parathyroid hormone (PTH)/PTH-related peptide receptor causing Blomstrand lethal osteochondrodysplasia. Karperien M, van der Harten HJ, van Schooten R, Farih-Sips H, den Hollander NS, Kneppers SL, Nijweide P, Papapoulos SE, Lowik CW. J Clin Endocrinol Metab. 1999;84(10):3713-20. |
| Lethal skeletal dysplasia | ||
| PTH PTH1R PTHLH SPTA1 | ||
| Adult Amino Acid Sequence Animals Base Sequence COS Cells DNA Mutational Analysis Females Fetus Homo sapiens Missense Mutation Molecular Sequence Data Osteochondrodysplasias Parathyroid Hormone Receptor Pregnancy Receptors, Parathyroid Hormone | ||
| 1 (21.2%) |
9415697 |
First-trimester diagnosis of Blomstrand lethal osteochondrodysplasia. den Hollander NS, van der Harten HJ, Vermeij-Keers C, Niermeijer MF, Wladimiroff JW. Am J Med Genet. 1997;73(3):345-50. |
| Skeletal dysplasia | ||
| Adult Females Fetal Death Genes, Recessive Homo sapiens Osteochondrodysplasias Pregnancy Pregnancy Trimester, First Ultrasonography | ||
| 1 (21.2%) |
8445622 |
A lethal skeletal dysplasia with generalised sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia? Young ID, Zuccollo JM, Broderick NJ. J Med Genet. 1993;30(2):155-7. |
| Lethal skeletal dysplasia | ||
| Bone Density Bone Development Dwarfism Females Genes, Recessive Homo sapiens Infant, Newborn Osteochondrodysplasias | ||
| 8 (4.0%) |
9268097 |
Familial Blomstrand chondrodysplasia with advanced skeletal maturation: further delineation. Loshkajian A, Roume J, Stanescu V, Delezoide AL, Stampf F, Maroteaux P. Am J Med Genet. 1997;71(3):283-8. |
| Polyhydramnios | ||
| rs398122843 | ||
| Adult Bone Development Dwarfism Face Females Fetus Genes, Recessive Homo sapiens Hydrops Fetalis Male Osteochondrodysplasias Pregnancy Syndrome |
Total: 37
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000272 | Malar flattening | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000369 | Low-set ears | Very frequent (99-80%) |
| HP:0000506 | Telecanthus | Very frequent (99-80%) |
| HP:0000518 | Cataract | Very frequent (99-80%) |
| HP:0000520 | Proptosis | Very frequent (99-80%) |
| HP:0000773 | Short ribs | Very frequent (99-80%) |
| HP:0000774 | Narrow chest | Very frequent (99-80%) |
| HP:0000916 | Broad clavicles | Very frequent (99-80%) |
| HP:0000926 | Platyspondyly | Very frequent (99-80%) |
| HP:0001538 | Protuberant abdomen | Very frequent (99-80%) |
| HP:0001561 | Polyhydramnios | Very frequent (99-80%) |
| HP:0001622 | Premature birth | Very frequent (99-80%) |
| HP:0002089 | Pulmonary hypoplasia | Very frequent (99-80%) |
| HP:0003015 | Flared metaphysis | Very frequent (99-80%) |
| HP:0003021 | Metaphyseal cupping | Very frequent (99-80%) |
| HP:0003027 | Mesomelia | Very frequent (99-80%) |
| HP:0003196 | Short nose | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0005616 | Accelerated skeletal maturation | Very frequent (99-80%) |
| HP:0005716 | Lethal skeletal dysplasia | Very frequent (99-80%) |
| HP:0005930 | Abnormality of epiphysis morphology | Very frequent (99-80%) |
| HP:0006402 | Distal shortening of limbs | Very frequent (99-80%) |
| HP:0006660 | Aplastic clavicle | Very frequent (99-80%) |
| HP:0008905 | Rhizomelia | Very frequent (99-80%) |
| HP:0008921 | Neonatal short-limb short stature | Very frequent (99-80%) |
| HP:0010306 | Short thorax | Very frequent (99-80%) |
| HP:0011001 | Increased bone mineral density | Very frequent (99-80%) |
| HP:0000343 | Long philtrum | Frequent (79-30%) |
| HP:0000463 | Anteverted nares | Frequent (79-30%) |
| HP:0000695 | Natal tooth | Frequent (79-30%) |
| HP:0001789 | Hydrops fetalis | Frequent (79-30%) |
| HP:0006487 | Bowing of the long bones | Frequent (79-30%) |
| HP:0010049 | Short metacarpal | Frequent (79-30%) |
| HP:0010808 | Protruding tongue | Frequent (79-30%) |
| HP:0100240 | Synostosis of joints | Frequent (79-30%) |
| HP:0001680 | Coarctation of aorta | Occasional (29-5%) |
Total: 3
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0005716 | Lethal skeletal dysplasia | 3 |
| HP:0002652 | Skeletal dysplasia | 2 |
| HP:0001561 | Polyhydramnios | 1 |