| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (43.4%) |
3799723 |
A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia. Borochowitz Z, Jones KL, Silbey R, Adomian G, Lachman R, Rimoin DL. Am J Med Genet. 1986;25(1):47-59. |
| Short ribs Broad long bones | ||
| Dwarfism Females Genes, Lethal Genes, Recessive Homo sapiens Infant, Newborn Male Osteochondrodysplasias Pelvis | ||
| 2 (37.4%) |
11200994 |
Schneckenbecken dysplasia, radiology, and histology. Nikkels PG, Stigter RH, Knol IE, van der Harten HJ. Pediatr Radiol. 2001;31(1):27-30. |
| Short long bone | ||
| Edema Fatal Outcome Females Homo sapiens Pregnancy Thanatophoric Dysplasia | ||
| 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 | ||
| 3 (21.2%) |
19407457 |
Schneckenbecken dysplasia in fetus: report of four cases. Lahmar-Boufaroua A, Yacoubi MT, Belaid L, Delezoide AL. Fetal Diagn Ther. 2009;25(2):216-9. |
| Skeletal dysplasia | ||
| Adult Females Homo sapiens Osteochondrodysplasias Pregnancy Ultrasonography, Prenatal | ||
| 3 (21.2%) |
15386610 |
Perinatally lethal, short-limbed dwarfism with distinct features -- Schneckenbecken dysplasia. Varkey JJ, Jones RA. Ultrasound Obstet Gynecol. 2004;24(5):575-7. |
| Skeletal dysplasia | ||
| Adult Females Fetal Death Homo sapiens Pregnancy Thanatophoric Dysplasia Ultrasonography, Prenatal | ||
| 3 (21.2%) |
7824994 |
Case report 870. Schneckenbecken dysplasia, possibly a new variant. Sillence D, Delprado W, Edwards M, Kozlowski K. Skeletal Radiol. 1994;23(7):586-8. |
| Skeletal dysplasia | ||
| Bone and Bones Females Homo sapiens Infant, Newborn Osteochondrodysplasias Pelvic Bones | ||
| 7 (4.0%) |
14566438 |
Metatropic dysplasia lethal variants. Hall CM, Elcioglu NH. Pediatr Radiol. 2004;34(1):66-74. |
| Confusion | ||
| Bone and Bones Females Fetal Death Fetal Diseases Homo sapiens Infant Infant, Newborn Male Osteochondrodysplasias |
Total: 26
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000256 | Macrocephaly | Very frequent (99-80%) |
| HP:0000272 | Malar flattening | Very frequent (99-80%) |
| HP:0000470 | Short neck | Very frequent (99-80%) |
| HP:0000773 | Short ribs | Very frequent (99-80%) |
| HP:0000774 | Narrow chest | Very frequent (99-80%) |
| HP:0000882 | Hypoplastic scapulae | Very frequent (99-80%) |
| HP:0000895 | Lateral clavicle hook | Very frequent (99-80%) |
| HP:0000944 | Abnormality of the metaphysis | Very frequent (99-80%) |
| HP:0000946 | Hypoplastic ilia | Very frequent (99-80%) |
| HP:0001004 | Lymphedema | Very frequent (99-80%) |
| HP:0001561 | Polyhydramnios | Very frequent (99-80%) |
| HP:0002983 | Micromelia | Very frequent (99-80%) |
| HP:0003038 | Fibular hypoplasia | Very frequent (99-80%) |
| HP:0003312 | Abnormal form of the vertebral bodies | Very frequent (99-80%) |
| HP:0008479 | Hypoplastic vertebral bodies | Very frequent (99-80%) |
| HP:0008873 | Disproportionate short-limb short stature | Very frequent (99-80%) |
| HP:0012107 | Increased fibular diameter | Very frequent (99-80%) |
| HP:0000028 | Cryptorchidism | Frequent (79-30%) |
| HP:0000268 | Dolichocephaly | Frequent (79-30%) |
| HP:0001231 | Abnormal fingernail morphology | Frequent (79-30%) |
| HP:0001800 | Hypoplastic toenails | Frequent (79-30%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000947 | Dumbbell-shaped long bone | Occasional (29-5%) |
| HP:0005019 | Diaphyseal thickening | Occasional (29-5%) |
| HP:0005616 | Accelerated skeletal maturation | Occasional (29-5%) |
| HP:0008108 | Advanced tarsal ossification | Occasional (29-5%) |
Total: 1
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002652 | Skeletal dysplasia | 3 |