| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 29 (21.2%) |
7632220 |
De la Chapelle dysplasia (atelosteogenesis type II): case report and review of the literature [corrected]. Schrander-Stumpel C, Havenith M, Linden EV, Maertzdorf W, Offermans J, van der Harten J. Clin Dysmorphol. 1994;3(4):318-27. |
| Skeletal dysplasia | ||
| Adult Asphyxia Neonatorum Autopsy Cleft Palate Diseases in Twins Fatal Outcome Females Genes, Recessive Homo sapiens Infant, Newborn Male Osteochondrodysplasias | ||
| 29 (21.2%) |
7395916 |
Congenital macular colobomas and short-limb skeletal dysplasia. Smith RD, Fineman RM, Sillence DO, Lester PD, Nixon GW, Rimoin DL, Lachman RS. Am J Med Genet. 1980;5(4):365-71. |
| Skeletal dysplasia | ||
| Bone and Bones Cartilage Dwarfism Electron Microscopy Homo sapiens Infant Male Syndrome | ||
| 33 (4.0%) |
6622405 |
Early prenatal detection of diastrophic dysplasia. Kaitila I, Ammala P, Karjalainen O, Liukkonen S, Rapola J. Prenat Diagn. 1983;3(3):237-44. |
| Polyhydramnios | ||
| Adult Anthropometry Dwarfism Females Fetoscopy Fetus Homo sapiens Limb Deformities, Congenital Pregnancy Ultrasonography | ||
| 33 (4.0%) |
2006828 |
[Pseudo-diastrophic dysplasia]. Bertrand JG, Tyazi A, Zaoui C, Vandevelde MF, Desmettre C, Ramaherisson P, Cuingnet PH, Noel JL, Bertrand J. Ann Pediatr (Paris). 1991;38(1):19-22. |
| Hydrocephalus | ||
| Homo sapiens Infant Infant, Newborn Male Osteochondrodysplasias | ||
| 33 (4.0%) |
99148 |
[Congenital spondyloepiphyseal dysplasia. Apropos of a case]. Guizar Vazquez J, Arredondo Vega F, Manzano C, Armendares S. Bol Med Hosp Infant Mex. 1978;35(6):1061-7. |
| Short stature | ||
| Child, Preschool Differential Diagnosis Females Genes, Dominant Homo sapiens Mucopolysaccharidosis IV |
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 |