| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Sacral agenesis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Congenital complete fusion of spine |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Defect of vertebral segmentation (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Hypoplasia of spine |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Accessory rib |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Hypochondroplasia (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Mesomelic dysplasia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Dysplasia epiphysealis hemimelica (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Metachondromatosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Hypochondrogenesis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Osteopsathyrosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Osteogenesis imperfecta, perinatal lethal |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Osteogenesis imperfecta with normal sclerae, dominant form |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Osteopetrosis - delayed type |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Craniodiaphyseal dysplasia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Aplasia of muscle |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Harlequin ichthyosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Lamellar ichthyosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Abnormal palmar creases |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Incontinentia pigmenti |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Keratoderma areata |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Congenital localised alopecia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Trisomy 21- meiotic nondisjunction |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Trisomy 21- mitotic nondisjunction mosaicism |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Trisomy 13, meiotic nondisjunction |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Trisomy 13 - mitotic nondisjunction mosaicism (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Trisomy 18 - meiotic nondisjunction |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Trisomy 18 - mitotic nondisjunction mosaicism |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Monosomy and deletion from autosome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Deletion seen only at prometaphase |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Whole chromosome monosomy - meiotic nondisjunction (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Monosomy 21, mosaicism |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Major partial trisomy |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Minor partial trisomy |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Duplication seen only at prometaphase |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Duplication with other complex rearrangement |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Extra marker chromosomes |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Chromosome inversion in normal individual |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Balanced autosomal rearrangement in abnormal individual |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Balanced sex/autosomal rearrangement in abnormal individual |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Individual with marker heterochromatin |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| sujet avec site autosomique fragile |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Ovarian dysgenesis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Karyotype 46, X iso (Xq) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Karyotype 46, X with abnormal sex chromosome except iso (Xq) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Mosaicism 45, X / other cell line with abnormal sex chromosome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Klinefelter syndrome, male with 46,XX karyotype (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Chimera 46, XX; 46, XY (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| 46, XX true hermaphrodite |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Fragile X chromosome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Congenital cyst of adrenal gland |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Congenital absence of pituitary gland |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Accessory pituitary gland |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Aberrant parathyroid gland |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Aberrant thymus gland |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Congenital malformation syndromes due to known exogenous causes |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Congenital contractural arachnodactyly |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Congenital viral hepatitis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Congenital hepatitis A infection |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Sepsis of newborn due to Staphylococcus aureus |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Sepsis of newborn due to Escherichia coli |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Sepsis of newborn due to anaerobes |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Spinobulbar atrophy |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Posterior lingual occlusion of mandibular teeth |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Congenital malposition of heart |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Ectopic thyroid tissue |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Congenital hypothyroidism with ectopic thyroid |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Congenital pancreatic enterokinase deficiency |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Xanthoma diabeticorum |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Gingival cyst of adult |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Interrupted aortic arch |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Congenital atresia of pulmonary artery (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Pachydermoperiostosis of nail |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Traumatic interventricular septal defect |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Otomandibular dysostosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Intermandibular dysostosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Temporo-auro-mandibular dysostosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Zygo-auro-mandibular dysostosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Temporo-aural dysostosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Maxillary dysostosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Maxillo-zygomatic dysostosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Naso-maxillary dysostosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Intermaxillo-palatine dysostosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Anterior perimaxillary faciosynostosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Complete perimaxillary faciosynostosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Posterior perimaxillary faciosynostosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Premaxillo-maxillary dysostosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Vomero-premaxillary faciosynostosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Internasal dysostosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Frontal dysostosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Interfrontal craniofaciosynostosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Fronto-frontal dysostosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Fronto-naso-ethmoidal dysostosis (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Fronto-parietal craniofaciosynostosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Fronto-malar faciosynostosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Sphenoidal dysostosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Spheno-frontal dysostosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Spheno-fronto-parietal craniofaciosynostosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
| Parieto-occipital craniosynostosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
| Interparietal craniosynostosis (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
| Mandibuloacral dysostosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|