| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 49 (4.0%) |
6476626 |
[Camptomelic dysplasia associated with true hermaphroditism]. Delgado A, Egues J, Molina M, Martinez Penuela JM, Santolaya JM. An Esp Pediatr. 1984;20(8):792-9. |
| Respiratory distress | ||
| Disorders of Sex Development Dwarfism H-Y Antigen Homo sapiens Infant, Newborn Male Mutation Respiratory Distress Syndrome, Newborn Sex Determination Analysis | ||
| 49 (4.0%) |
6384351 |
[Prenatal diagnosis of camptomelic dysplasia]. Redon JY, Le Grevellec JY, Marie F, Le Coq E, Le Guern H. J Gynecol Obstet Biol Reprod (Paris). 1984;13(4):437-41. |
| Polyhydramnios | ||
| Adult Females Homo sapiens Osteochondrodysplasias Pregnancy Syndrome Ultrasonography | ||
| 49 (4.0%) |
4094914 |
[Campomelic dwarfism. Its placement in the heterogeneous group of congenital bowing of the limbs]. Nardini C, Sordato S. Pediatr Med Chir. 1985;7(2):259-70. |
| Falls | ||
| Bone and Bones Differential Diagnosis Dwarfism Females Homo sapiens Infant, Newborn Leg | ||
| 49 (4.0%) |
3883340 |
Prenatal diagnosis of campomelic dysplasia by ultrasonography. Winter R, Rosenkranz W, Hofmann H, Zierler H, Becker H, Borkenstein M. Prenat Diagn. 1985;5(1):1-8. |
| Respiratory distress | ||
| Bone and Bones Dwarfism Females Homo sapiens Osteochondrodysplasias Pregnancy Ultrasonography | ||
| 49 (4.0%) |
3670910 |
Bronchoscopic evaluation of airway obstruction in campomelic dysplasia. Grad R, Sammut PH, Britton JR, Goodrich P, Hoyme HE, Dambro NN. Pediatr Pulmonol. 1987;3(5):364-7. |
| Respiratory failure | ||
| Airway Obstruction Bronchi Bronchoscopy Fiber Optic Technology Homo sapiens Infant, Newborn Laryngoscopy Osteochondrodysplasias | ||
| 49 (4.0%) |
1809232 |
No evidence of mutations in four candidate genes for male sex determination/differentiation in sex-reversed XY females with campomelic dysplasia. Ebensperger C, Jager RJ, Lattermann U, Dagna Bricarelli F, Keutel J, Lindsten J, Rehder H, Muller U, Wolf U. Ann Genet. 1991;34(3-4):233-8. |
| Sex reversal | ||
| SRY ZFX ZFY | ||
| rs80338688 | ||
| Base Sequence Disorders of Sex Development Females Homo sapiens Immunoblotting Infant, Newborn Molecular Sequence Data Mutation Osteochondrodysplasias Polymerase Chain Reaction Sex Differentiation Syndrome |
Total: 38
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000175 | Cleft palate | Very frequent (99-80%) |
| HP:0000256 | Macrocephaly | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000470 | Short neck | Very frequent (99-80%) |
| HP:0000774 | Narrow chest | Very frequent (99-80%) |
| HP:0000878 | 11 pairs of ribs | Very frequent (99-80%) |
| HP:0001601 | Laryngomalacia | Very frequent (99-80%) |
| HP:0002093 | Respiratory insufficiency | Very frequent (99-80%) |
| HP:0002650 | Scoliosis | Very frequent (99-80%) |
| HP:0002757 | Recurrent fractures | Very frequent (99-80%) |
| HP:0002779 | Tracheomalacia | Very frequent (99-80%) |
| HP:0002786 | Tracheobronchomalacia | Very frequent (99-80%) |
| HP:0002827 | Hip dislocation | Very frequent (99-80%) |
| HP:0002982 | Tibial bowing | Very frequent (99-80%) |
| HP:0003026 | Short long bone | Very frequent (99-80%) |
| HP:0003038 | Fibular hypoplasia | Very frequent (99-80%) |
| HP:0006487 | Bowing of the long bones | Very frequent (99-80%) |
| HP:0006584 | Small abnormally formed scapulae | Very frequent (99-80%) |
| HP:0008477 | Poorly ossified cervical vertebrae | Very frequent (99-80%) |
| HP:0008821 | Hypoplastic inferior ilia | Very frequent (99-80%) |
| HP:0012368 | Flat face | Very frequent (99-80%) |
| HP:0000037 | Male pseudohermaphroditism | Frequent (79-30%) |
| HP:0000062 | Ambiguous genitalia | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000369 | Low-set ears | Frequent (79-30%) |
| HP:0000520 | Proptosis | Frequent (79-30%) |
| HP:0001762 | Talipes equinovarus | Frequent (79-30%) |
| HP:0002980 | Femoral bowing | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0010781 | Skin dimple | Frequent (79-30%) |
| HP:0000126 | Hydronephrosis | Occasional (29-5%) |
| HP:0000365 | Hearing impairment | Occasional (29-5%) |
| HP:0002119 | Ventriculomegaly | Occasional (29-5%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Occasional (29-5%) |
| HP:0002808 | Kyphosis | Occasional (29-5%) |
| HP:0004408 | Abnormality of the sense of smell | Occasional (29-5%) |
| HP:0005280 | Depressed nasal bridge | Occasional (29-5%) |
| HP:0007036 | Hypoplasia of olfactory tract | Occasional (29-5%) |
Total: 23
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0012245 | Sex reversal | 24 |
| HP:0002652 | Skeletal dysplasia | 11 |
| HP:0000201 | Pierre-Robin sequence | 4 |
| HP:0006487 | Bowing of the long bones | 4 |
| HP:0000882 | Hypoplastic scapulae | 3 |
| HP:0002786 | Tracheobronchomalacia | 2 |
| HP:0005659 | Thoracic kyphoscoliosis | 2 |
| HP:0000121 | Nephrocalcinosis | 1 |
| HP:0000133 | Gonadal dysgenesis | 1 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000256 | Macrocephaly | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000878 | 11 pairs of ribs | 1 |
| HP:0001945 | Fever | 1 |
| HP:0002093 | Respiratory insufficiency | 1 |
| HP:0002098 | Respiratory distress | 1 |
| HP:0002527 | Falls | 1 |
| HP:0002751 | Kyphoscoliosis | 1 |
| HP:0002980 | Femoral bowing | 1 |
| HP:0008443 | Spinal deformities | 1 |
| HP:0010444 | Pulmonary insufficiency | 1 |
| HP:0010459 | True hermaphroditism | 1 |
| HP:0012368 | Flat face | 1 |