Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Congenital misalignment of centrum of thoracic vertebra |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Hypertrophic Meckel's diverticulum |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Congenital absence of presphenoid bone |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Persistent urogenital sinus |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Congenital misalignment of centrum of caudal vertebra |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Persistent tunica vasculosa lentis |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Congenital hypoplasia of genital tubercle |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Bipartite ossification of centrum of sacral vertebra |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Supernumerary centrum of sacral vertebra |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Omphalophlebitis |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Primary malignant neoplasm of thyroglossal duct |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Persistent thyroglossal duct |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Congenital bronchopulmonary foregut malformation |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Epoophoron |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Paroophoron |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Intermaxillo-palatine dysostosis |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Hemicentric lumbar centrum |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Premaxillo-maxillary dysostosis |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Vomero-premaxillary faciosynostosis |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Cleft cartilaginous centrum of sacral vertebra |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Cleft cartilaginous centrum of lumbar vertebra |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Hemicentric thoracic centrum |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Hemicentric sacral centrum |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Congenital anomaly of fetal head bones |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Hemicentric cervical centrum |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Aortopulmonary window |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Cleft cartilaginous centrum of thoracic vertebra |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Lack of ossification of centrum of thoracic vertebra |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Kundrat's syndrome |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Alobar holoprosencephaly |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Arteriovenous malformation of frontonasal process |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Mullerian remnant |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Structural developmental anomalies of neurenteric canal (disorder) |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Bulbus cordis and cardiac septal closure anomalies |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Congenital ectodermal defect |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
A rare disorder characterized by the association of mullerian duct and distal limb anomalies. Females present with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males present with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
A rare congenital cardiac malformation that is a variant of an atrioventricular septal defect (AVSD) with an interatrial communication (ostium primum defect) just above the common atrioventricular (AV) valve, no interventricular communication just below the atrioventricular valve, a common atrioventricular junction but separate right and left atrioventricular valvar orifices, and a three-leaflet, left-sided component of the common atrioventricular valve (cleft). Shunting is restricted to the atrial level because of fusion of the leaflets of the common AV valve with the crest of the ventricular septum. |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Cyst of paramesonephric duct (disorder) |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Solitary median maxillary central incisor syndrome |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Embryonic cyst of epoophoron |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
A rare congenital anomaly of the inferior vena cava characterized by the postnatal presence of a eustachian valve remnant, which may be asymptomatic and considered a normal variant or prominent and clinically significant. Clinical presentation is variable and includes obstruction of the inferior vena cava, cyanosis, thrombosis, pulmonary embolism, infective endocarditis, and when combined with persistent foramen ovale, it may generate permanent right-to-left shunt. |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Thyroglossal duct anomaly |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Pineal gland disorder |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Colloid cyst of third ventricle |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
épilepsie rhinencéphalique |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Thalamic haemorrhage |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Malignant neoplasm of thalamus |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Hind brain laceration with open intracranial wound |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Closed hindbrain contusion |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Open hindbrain contusion |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Simonart's band |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Atelencephaly |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Defect of telencephalic division |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Lobar holoprosencephaly |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Band of Ladd |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Vestigial gastrointestinal remnant |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Mullerian aplasia |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Venous remnant |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Cervical thymic remnant |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Convergence retraction nystagmus (disorder) |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Disorder of hypothalamus (disorder) |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Varix of umbilical vein (disorder) |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Thalamic infarction (disorder) |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Low grade glioma of thalamus (disorder) |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Ecchordosis physaliphora |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Status marmoratus |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Nodular embryo |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness. |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Fetal spina bifida (disorder) |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Thalamic syndrome (disorder) |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
See-saw nystagmus |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Choriovitelline placenta |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Contusion of hindbrain |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Complication of arterial duct due to and following procedure |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Acquired abnormality of common arterial trunk following repair of truncus arteriosus (disorder) |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Acquired stenosis of common arterial trunk following procedure |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Congenital disruption of omphalomesenteric artery |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Congenital anomaly of first branchial cleft (disorder) |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Cerebrovascular accident of thalamus (disorder) |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Optic chiasm disorder |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Disorder of optic tract |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Sporadic fatal insomnia |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Cyst of craniobuccal pouch |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
A rare otorhinolaryngological malformation characterized by the presence of a cyst, sinus or fistula occurring along the anterior border of the sternocleidomastoid muscle. Second branchial cleft fistulae and sinuses present with skin opening with chronic discharge and recurrent infections, whereas second branchial cleft cysts present as a painless, nontender, stable in size or slowly enlarging lateral neck masses. Cysts occasionally acutely increase in size during upper respiratory tract infection, leading to respiratory compromise, torticollis, and dysphagia. |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
A rare otorhinolaryngeal malformation characterized by a soft, fluctuant mass, abscess or draining tract along the anterior border of the lower half of sternocleidomastoid muscle, occasionally leading to development of retropharyngeal abscess, acute suppurative thyroiditis, stridor, respiratory distress, odynophagia and dysphagia. Anomaly occurs as a tract from the piriform sinus to the thyroid gland. A third branchial cleft fistula passes superficial to both the superior and recurrent laryngeal nerves, which is the main difference in comparison to the fourth branchial cleft fistula. |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
A rare otorhinolaryngeal malformation characterized by a soft, fluctuant mass, abscess or draining tract along the anterior border of the lower half of sternocleidomastoid muscle, occasionally leading to development of retropharyngeal abscess, acute suppurative thyroiditis, stridor, respiratory distress, odynophagia, and dysphagia. Anomaly occurs as a tract from the piriform sinus to the thyroid gland. A fourth branchial cleft fistula passes deep to the superior laryngeal nerve but superficial to the recurrent laryngeal nerve, which is the main difference in comparison to the third branchial cleft fistula. |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
A group of rare central nervous system malformations characterized by varying degrees of absence or dysplasia of the derivatives of the prosencephalon (i.e. telencephalon and diencephalon), with an intact cranial vault. The spectrum comprises atelencephaly, the less severe form, in which only the telencephalon is affected, and aprosencephaly, where the diencephalon is also involved. The malformations may occur in an isolated form or in association with other anomalies. |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Congenital prepapillary vascular loop |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Disorder of pituitary gland |
Is a |
False |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Persistent hyperplastic primary vitreous |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|
Well-differentiated neuroendocrine tumor of hindgut (disorder) |
Is a |
True |
Disorder of embryonic structure (disorder) |
Inferred relationship |
Some |
|