| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 19 (23.3%) |
19829852 (2740093) |
Significant traumatic atrophy of the spinal cord in connection with severe cervical vertebral body hypoplasia in a boy with Larsen syndrome: a case report and review of the literature. Al Kaissi A, Altenhuber J, Grill F, Klaushofer K. Cases J. 2009;2:6729. |
| Kyphosis | ||
| SLC25A5 TRGC1 | ||
| 19 (23.3%) |
18925670 |
A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST. Panzer KM, Lachman R, Modaff P, Pauli RM. Am J Med Genet A. 2008;146A(22):2920-4. |
| Cervical kyphosis | ||
| SLC26A2 | ||
| rs104893919 rs267607055 | ||
| Anion Transport Proteins Bone Diseases, Developmental Child, Preschool Craniofacial Abnormalities Differential Diagnosis Females Homo sapiens Mutation Phenotype | ||
| 19 (23.3%) |
12854932 |
Prenatal ultrasonographic diagnosis of diastrophic dysplasia at 13 weeks of gestation. Severi FM, Bocchi C, Sanseverino F, Petraglia F. J Matern Fetal Neonatal Med. 2003;13(4):282-4. |
| Skeletal dysplasia Kyphoscoliosis | ||
| Adult Biometry Bone Diseases, Developmental Dwarfism Females Gestational Age Homo sapiens Pregnancy Ultrasonography, Prenatal Vagina | ||
| 19 (23.3%) |
11103546 |
Diastrophic dysplasia with severe primary kyphosis and 'monkey wrench' appearance of the femora. Bieganski T, Faflik J, Kozlowski K. Australas Radiol. 2000;44(4):450-3. |
| Kyphosis | ||
| Dwarfism Females Femur Homo sapiens Infant Osteochondrodysplasias Patella | ||
| 19 (23.3%) |
9217227 |
Pseudodiastrophic dysplasia type Burgio in a newborn. Fischetto R, Causio F, Corso G, Lillo V, Natale B, Papadia F. Am J Med Genet. 1997;71(2):222-5. |
| Platyspondyly | ||
| Bone Diseases, Developmental Congenital Heart Defects Fatal Outcome Females Homo sapiens Infant, Newborn Syndrome | ||
| 19 (23.3%) |
7778595 |
Histopathology of fetal diastrophic dysplasia. Qureshi F, Jacques SM, Johnson SF, Johnson MP, Hume RF, Evans MI, Yang SS. Am J Med Genet. 1995;56(3):300-3. |
| Scoliosis | ||
| Cartilage Differential Diagnosis Females Homo sapiens Male Osteochondrodysplasias Pregnancy Pregnancy Trimester, Second | ||
| 19 (23.3%) |
3761077 |
Pseudodiastrophic dysplasia: a distinct newborn skeletal dysplasia. Eteson DJ, Beluffi G, Burgio GR, Belloni C, Lachman RS, Rimoin DL. J Pediatr. 1986;109(4):635-41. |
| Platyspondyly | ||
| Bone Diseases, Developmental Child, Preschool Females Foot Deformities, Acquired Hand Deformities, Acquired Homo sapiens Infant Infant, Newborn Male | ||
| 19 (23.3%) |
3601466 |
Cervical kyphosis in diastrophic dwarfism: CT and MR findings. Krecak J, Starshak RJ. Pediatr Radiol. 1987;17(4):321-2. |
| Cervical kyphosis | ||
| Cervical Vertebrae Child, Preschool Dwarfism Homo sapiens Magnetic Resonance Spectroscopy Male X-Ray Computed Tomography | ||
| 29 (21.2%) |
10378396 |
A mild variant of Desbuquois dysplasia. Nishimura G, Hong HS, Kawame H, Sato S, Cai G, Ozono K. Eur J Pediatr. 1999;158(6):479-83. |
| Osteopenia | ||
| Anion Transport Proteins Bone Diseases, Developmental Bone and Bones Carrier Proteins Child, Preschool Females Homo sapiens Infant Male Membrane Transport Proteins Phenotype Sulfates, Inorganic | ||
| 29 (21.2%) |
9219013 |
A collaborative approach to the diagnosis of a lethal short limb skeletal dysplasia. Carvalho L, Soares M, Feijoo MJ, Gaspar M, Ferreira F. Genet Couns. 1997;8(2):139-43. |
| Skeletal dysplasia | ||
| Ectromelia Femur Genes, Lethal Hereditary Multiple Exostoses Homo sapiens Male |
Total: 43
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000256 | Macrocephaly | Very frequent (99-80%) |
| HP:0000772 | Abnormality of the ribs | Very frequent (99-80%) |
| HP:0000889 | Abnormality of the clavicle | Very frequent (99-80%) |
| HP:0000944 | Abnormality of the metaphysis | Very frequent (99-80%) |
| HP:0001163 | Abnormality of the metacarpal bones | Very frequent (99-80%) |
| HP:0001511 | Intrauterine growth retardation | Very frequent (99-80%) |
| HP:0002650 | Scoliosis | Very frequent (99-80%) |
| HP:0002983 | Micromelia | Very frequent (99-80%) |
| HP:0003312 | Abnormal form of the vertebral bodies | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0005930 | Abnormality of epiphysis morphology | Very frequent (99-80%) |
| HP:0006487 | Bowing of the long bones | Very frequent (99-80%) |
| HP:0008434 | Hypoplastic cervical vertebrae | Very frequent (99-80%) |
| HP:0008921 | Neonatal short-limb short stature | Very frequent (99-80%) |
| HP:0009381 | Short finger | Very frequent (99-80%) |
| HP:0009623 | Proximal placement of thumb | Very frequent (99-80%) |
| HP:0009748 | Large earlobe | Very frequent (99-80%) |
| HP:0009773 | Symphalangism affecting the phalanges of the hand | Very frequent (99-80%) |
| HP:0011001 | Increased bone mineral density | Very frequent (99-80%) |
| HP:0011800 | Midface retrusion | Very frequent (99-80%) |
| HP:0000175 | Cleft palate | Frequent (79-30%) |
| HP:0000293 | Full cheeks | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Frequent (79-30%) |
| HP:0000396 | Overfolded helix | Frequent (79-30%) |
| HP:0000592 | Blue sclerae | Frequent (79-30%) |
| HP:0001252 | Muscular hypotonia | Frequent (79-30%) |
| HP:0001373 | Joint dislocation | Frequent (79-30%) |
| HP:0001385 | Hip dysplasia | Frequent (79-30%) |
| HP:0001387 | Joint stiffness | Frequent (79-30%) |
| HP:0002093 | Respiratory insufficiency | Frequent (79-30%) |
| HP:0002205 | Recurrent respiratory infections | Frequent (79-30%) |
| HP:0002808 | Kyphosis | Frequent (79-30%) |
| HP:0009465 | Ulnar deviation of finger | Frequent (79-30%) |
| HP:0100490 | Camptodactyly of finger | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000347 | Micrognathia | Occasional (29-5%) |
| HP:0000365 | Hearing impairment | Occasional (29-5%) |
| HP:0000974 | Hyperextensible skin | Occasional (29-5%) |
| HP:0002514 | Cerebral calcification | Occasional (29-5%) |
| HP:0003042 | Elbow dislocation | Occasional (29-5%) |
| HP:0005692 | Joint hyperflexibility | Occasional (29-5%) |
| HP:0100761 | Visceral angiomatosis | Occasional (29-5%) |
Total: 18
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002650 | Scoliosis | 3 |
| HP:0002652 | Skeletal dysplasia | 3 |
| HP:0002947 | Cervical kyphosis | 3 |
| HP:0000926 | Platyspondyly | 2 |
| HP:0001234 | Hitchhiker thumb | 2 |
| HP:0001373 | Joint dislocation | 2 |
| HP:0000268 | Dolichocephaly | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0001155 | Abnormality of the hand | 1 |
| HP:0001217 | Clubbing | 1 |
| HP:0001298 | Encephalopathy | 1 |
| HP:0001513 | Obesity | 1 |
| HP:0001883 | Talipes | 1 |
| HP:0002445 | Tetraplegia | 1 |
| HP:0002808 | Kyphosis | 1 |
| HP:0003099 | Fibular overgrowth | 1 |
| HP:0004565 | Severe platyspondyly | 1 |
| HP:0009487 | Ulnar deviation of the hand | 1 |