| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (63.7%) |
25091507 |
A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia. Hufnagel SB, Weaver KN, Hufnagel RB, Bader PI, Schorry EK, Hopkin RJ. Am J Med Genet A. 2014;164A(10):2607-12. |
| Micrognathia Brachydactyly Micromelia | ||
| COL11A1 | ||
| Bone Diseases, Developmental Collagen Type XI Females Homo sapiens Mutation Myopia | ||
| 2 (60.5%) |
9475607 |
Fibrochondrogenesis in a 17-week fetus: a case expanding the phenotype. Hunt NC, Vujanic GM. Am J Med Genet. 1998;75(3):326-9. |
| Micrognathia Bifid tongue | ||
| Bone and Bones Dwarfism Face Females Femur Fibroblasts Homo sapiens Micrognathism Osteochondrodysplasias Phenotype Pregnancy Tongue | ||
| 3 (57.3%) |
14605823 |
Prenatal diagnosis of thanatophoric dysplasia in the second trimester: ultrasonography and other diagnostic modalities. Sahinoglu Z, Uludogan M, Gurbuz A, Karateke A. Arch Gynecol Obstet. 2003;269(1):57-61. |
| Macrocephaly Short ribs | ||
| FGFR3 | ||
| Adult Females Homo sapiens Pregnancy Pregnancy Trimester, Second Thanatophoric Dysplasia Ultrasonography, Prenatal | ||
| 4 (43.2%) |
10929597 |
[Lethal osteochondrodysplasias: prenatal and postnatal differential diagnosis]. Sauer I, Klein B, Leeners B, Cotarelo C, Heyl W, Funk A. Ultraschall Med. 2000;21(3):112-21. |
| Short ribs | ||
| Adult Females Fetal Death Gestational Age Homo sapiens Infant, Newborn Male Osteochondrodysplasias Pregnancy Ultrasonography, Prenatal | ||
| 5 (34.4%) |
22439129 (3307213) |
Fibrochondrogenesis, an antenatal and postnatal correlation. Kundaragi NG, Taori K, Jathar C, Disawal A. J Clin Imaging Sci. 2012;2:5. |
| Platyspondyly Broad long bones | ||
| 6 (32.2%) |
6507478 |
Fibrochondrogenesis: lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology. Whitley CB, Langer LO Jr, Ophoven J, Gilbert EF, Gonzalez CH, Mammel M, Coleman M, Rosemberg S, Rodriques CJ, Sibley R, et al.. Am J Med Genet. 1984;19(2):265-75. |
| Broad long bones | ||
| Cartilage Females Genes, Lethal Genes, Recessive Homo sapiens Infant, Newborn Osteochondrodysplasias | ||
| 7 (21.2%) |
22246659 (3264686) |
Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2. Tompson SW, Faqeih EA, Ala-Kokko L, Hecht JT, Miki R, Funari T, Funari VA, Nevarez L, Krakow D, Cohn DH. Am J Med Genet A. 2012;158A(2):309-14. |
| Skeletal dysplasia | ||
| COL11A1 COL11A2 | ||
| rs750006299 rs797044915 | ||
| Collagen Type XI Dwarfism Exons Genes, Dominant Genes, Recessive Genotype Homo sapiens Infant, Newborn Introns Osteochondrodysplasias RNA Splice Sites Sequence Deletion Single Nucleotide Polymorphism | ||
| 7 (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 | ||
| 7 (21.2%) |
15876767 |
Fibrochondrogenesis. Kulkarni ML, Matadh PS, Praveen Prabhu SP, Kulkarni PM. Indian J Pediatr. 2005;72(4):355-7. |
| Skeletal dysplasia | ||
| Dwarfism Genes, Recessive Homo sapiens Infant, Newborn Male Osteochondrodysplasias | ||
| 7 (21.2%) |
6507479 |
Fibrochondrogenesis: radiologic and histologic studies. Eteson DJ, Adomian GE, Ornoy A, Koide T, Sugiura Y, Calabro A, Lungarotti S, Mastroiacovo P, Lachman RS, Rimoin DL. Am J Med Genet. 1984;19(2):277-90. |
| Skeletal dysplasia | ||
| Females Homo sapiens Infant, Newborn Osteochondrodysplasias |
Total: 29
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000260 | Wide anterior fontanel | Very frequent (99-80%) |
| HP:0000311 | Round face | Very frequent (99-80%) |
| HP:0000470 | Short neck | Very frequent (99-80%) |
| HP:0000520 | Proptosis | Very frequent (99-80%) |
| HP:0000772 | Abnormality of the ribs | Very frequent (99-80%) |
| HP:0000773 | Short ribs | Very frequent (99-80%) |
| HP:0000774 | Narrow chest | Very frequent (99-80%) |
| HP:0000885 | Broad ribs | Very frequent (99-80%) |
| HP:0000940 | Abnormal diaphysis morphology | Very frequent (99-80%) |
| HP:0000944 | Abnormality of the metaphysis | Very frequent (99-80%) |
| HP:0001156 | Brachydactyly | Very frequent (99-80%) |
| HP:0001591 | Bell-shaped thorax | Very frequent (99-80%) |
| HP:0003312 | Abnormal form of the vertebral bodies | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0000160 | Narrow mouth | Frequent (79-30%) |
| HP:0000175 | Cleft palate | Frequent (79-30%) |
| HP:0000364 | Hearing abnormality | Frequent (79-30%) |
| HP:0000369 | Low-set ears | Frequent (79-30%) |
| HP:0000463 | Anteverted nares | Frequent (79-30%) |
| HP:0000494 | Downslanted palpebral fissures | Frequent (79-30%) |
| HP:0000882 | Hypoplastic scapulae | Frequent (79-30%) |
| HP:0001804 | Hypoplastic fingernail | Frequent (79-30%) |
| HP:0002093 | Respiratory insufficiency | Frequent (79-30%) |
| HP:0005280 | Depressed nasal bridge | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Occasional (29-5%) |
| HP:0001357 | Plagiocephaly | Occasional (29-5%) |
| HP:0001539 | Omphalocele | Occasional (29-5%) |
| HP:0002983 | Micromelia | Occasional (29-5%) |
| HP:0100490 | Camptodactyly of finger | Occasional (29-5%) |
Total: 2
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002652 | Skeletal dysplasia | 5 |
| HP:0000926 | Platyspondyly | 1 |