| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 7 (39.0%) |
2029297 |
Basilar impression in a child with hypochondroplasia. Wong VC, Fung CF. Pediatr Neurol. 1991;7(1):62-4. |
| Basilar impression | ||
| Achondroplasia Cervical Vertebrae Child, Preschool Homo sapiens Magnetic Resonance Imaging Male Neurologic Examination Platybasia | ||
| 12 (37.4%) |
24616001 |
Prenatal ultrasound and MRI findings of temporal and occipital lobe dysplasia in a twin with achondroplasia. Pugash D, Lehman AM, Langlois S. Ultrasound Obstet Gynecol. 2014;44(3):365-8. |
| Short long bone | ||
| FGFR3 | ||
| Achondroplasia Adult Females Homo sapiens Infant, Newborn Magnetic Resonance Imaging Male Pregnancy Temporal Lobe | ||
| 13 (32.7%) |
29190002 |
Dentoalveolar Abscesses Not Associated with Caries or Trauma: A Diagnostic Hallmark of Hypophosphatemic Rickets Initially Misdiagnosed as Hypochondroplasia. Paredes SEY, Segato RAB, Moreira LD, Moreira A, Serrano KVD, Rodrigues CT, Almeida LY, Leon JE. Head Neck Pathol. 2018;12(4):604-609. |
| Bowing of the legs | ||
| FGF23 | ||
| Bone and Bones Child Diagnostic Errors Dwarfism Homo sapiens Hypophosphatemic Rickets Limb Deformities, Congenital Lordosis Male Suppurative Periapical Periodontitis | ||
| 13 (32.7%) |
8629144 |
Genetic skeletal dysplasia in Thailand: the Siriraj experience. Wasant P, Waeteekul S, Rimoin DL, Lachman RS. Southeast Asian J Trop Med Public Health. 1995;26 Suppl 1:59-67. |
| Skeletal dysplasia Metaphyseal dysplasia | ||
| Bone Diseases, Developmental Child Child, Preschool Females Genetic Counseling Homo sapiens Infant Infant, Newborn Male Osteochondrodysplasias Pregnancy Syndrome Thailand | ||
| 15 (32.2%) |
2343092 |
[Pseudo-achondroplasia and hypochondroplasia]. Tscherninkoff Z, Zandev J. Radiol Diagn (Berl). 1990;31(1):71-4. |
| Epiphyseal dysplasia | ||
| Achondroplasia Differential Diagnosis Females Homo sapiens Male Osteochondrodysplasias | ||
| 15 (32.2%) |
1158967 |
Hypochondroplasia. Newman DE, Dunbar JC. J Can Assoc Radiol. 1975;26(2):95-103. |
| Broad long bones | ||
| Achondroplasia Adult Child Differential Diagnosis Females Genes, Dominant Homo sapiens Male Osteochondrodysplasias Pelvis | ||
| 17 (23.3%) |
19274446 |
Intervertebral disc calcifications in children. Beluffi G, Fiori P, Sileo C. Radiol Med. 2009;114(2):331-41. |
| Dysphagia Scoliosis | ||
| Calcinosis Cervical Vertebrae Child Child, Preschool Females Homo sapiens Infant Infant, Newborn Male Medical Records Retrospective Studies Spinal Diseases Syndrome | ||
| 17 (23.3%) |
1853464 |
[Spinal stenosis in hypochondroplasia and achondroplasia]. Christensen EL. Ugeskr Laeger. 1991;153(25):1805-6. |
| Spastic paraplegia Cervical spondylosis | ||
| Achondroplasia Bone Diseases, Developmental Dwarfism Homo sapiens Male Middle Aged Spinal Stenosis | ||
| 17 (23.3%) |
1785332 |
Growth-promoting effect of human growth hormone on patients with achondroplasia. Okabe T, Nishikawa K, Miyamori C, Sato T. Acta Paediatr Jpn. 1991;33(3):357-62. |
| Atlantoaxial dislocation | ||
| GH1 | ||
| Achondroplasia Age Factors Body Height Bone Development Child Child, Preschool Females Growth Growth Hormone Homo sapiens Infant Male Metacarpus Time Factors | ||
| 20 (21.2%) |
30160829 |
Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants. Chang IJ, Sun A, Bouchard ML, Kamps SE, Hale S, Done S, Goldberg MJ, Glass IA. Am J Med Genet A. 2018;176(7):1675-1679. |
| Seizure Skeletal dysplasia | ||
| FGFR3 | ||
| c|SUB|G|1138|A;RS#:28931614 c|SUB|G|1138|C;RS#:28931614 p|SUB|G|380|R;RS#:28931614 p|SUB|S|344|C | ||
| Achondroplasia Adult Females Homo sapiens Infant, Newborn Male Mutation Phenotype |
Total: 20
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001156 | Brachydactyly | Very frequent (99-80%) |
| HP:0001831 | Short toe | Very frequent (99-80%) |
| HP:0002652 | Skeletal dysplasia | Very frequent (99-80%) |
| HP:0002983 | Micromelia | Very frequent (99-80%) |
| HP:0003312 | Abnormal form of the vertebral bodies | Very frequent (99-80%) |
| HP:0011405 | Childhood onset short-limb short stature | Very frequent (99-80%) |
| HP:0000944 | Abnormality of the metaphysis | Frequent (79-30%) |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | Frequent (79-30%) |
| HP:0002823 | Abnormality of femur morphology | Frequent (79-30%) |
| HP:0002970 | Genu varum | Frequent (79-30%) |
| HP:0005692 | Joint hyperflexibility | Frequent (79-30%) |
| HP:0009811 | Abnormality of the elbow | Frequent (79-30%) |
| HP:0000256 | Macrocephaly | Occasional (29-5%) |
| HP:0001249 | Intellectual disability | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002758 | Osteoarthritis | Occasional (29-5%) |
| HP:0003307 | Hyperlordosis | Occasional (29-5%) |
| HP:0003416 | Spinal canal stenosis | Occasional (29-5%) |
| HP:0006487 | Bowing of the long bones | Occasional (29-5%) |
| HP:0010535 | Sleep apnea | Occasional (29-5%) |
Total: 20
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002652 | Skeletal dysplasia | 22 |
| HP:0004322 | Short stature | 10 |
| HP:0000956 | Acanthosis nigricans | 6 |
| HP:0000256 | Macrocephaly | 2 |
| HP:0000842 | Hyperinsulinemia | 1 |
| HP:0001258 | Spastic paraplegia | 1 |
| HP:0001943 | Hypoglycemia | 1 |
| HP:0002093 | Respiratory insufficiency | 1 |
| HP:0002650 | Scoliosis | 1 |
| HP:0002655 | Spondyloepiphyseal dysplasia | 1 |
| HP:0002676 | Cloverleaf skull | 1 |
| HP:0002762 | Multiple exostoses | 1 |
| HP:0003026 | Short long bone | 1 |
| HP:0005716 | Lethal skeletal dysplasia | 1 |
| HP:0005758 | Basilar impression | 1 |
| HP:0008480 | Cervical spondylosis | 1 |
| HP:0010781 | Skin dimple | 1 |
| HP:0011002 | Osteopetrosis | 1 |
| HP:0012378 | Fatigue | 1 |
| HP:0100255 | Metaphyseal dysplasia | 1 |