| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 42 (4.0%) |
2195629 |
[Echographic screening: small, yes... but why?]. Moriaux Y, Houareau G, Moland Y, Silberberg L, Saingre JY. Rev Fr Gynecol Obstet. 1990;85(4):255-61. |
| Amenorrhea | ||
| Females Fetal Diseases Homo sapiens Infant, Newborn Osteochondrodysplasias Pregnancy Ultrasonography |
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 |