Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Macrosomia, microphthalmia, cleft palate syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Hydrocephalus, blue sclera, nephropathy syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Hydrocephalus, blue sclera, nephropathy syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Hydrocephalus, blue sclera, nephropathy syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital lethal myopathy Compton North type |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Congenital lethal myopathy Compton North type |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Xeroderma pigmentosum and Cockayne syndrome complex |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Estren-Dameshek anaemia |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Malignant hyperthermia with arthrogryposis and torticollis syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Papillon-Lefèvre syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Telecanthus, hypertelorism, strabismus, pes cavus syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Facial dysmorphism, conductive hearing loss, heart defect syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Haim Munk syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Constitutional aplastic anaemia with malformation |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Lack of ossification of auditory ossicles |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
WT limb blood syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Keratoderma hereditarium mutilans with ichthyosis syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Lack of ossification of vomer |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
CK syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Lack of ossification of mandible |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Congenital hypoplastic anaemia |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Dahlberg Borer Newcomer syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Lack of ossification of premaxilla |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Multiple lentigines syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Lack of ossification of pubis |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Revesz syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
6 |
Cervical spinal hydromeningocele |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Congenital vaginal enterocele |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Congenital vaginal enterocele |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Craniosynostosis and dental anomalies syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Craniosynostosis and dental anomalies syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Xylosyltransferase 1 congenital disorder of glycosylation |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Autosomal recessive frontotemporal pachygyria |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Mandibular hypoplasia, deafness, progeroid syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Intellectual disability, facial dysmorphism, hand anomalies syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Intellectual disability, facial dysmorphism, hand anomalies syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Roifman syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Roifman syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Lack of ossification of supraoccipital bone |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Delayed epiphyseal closure |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Discontinuity between mitral valve and pulmonary valve |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Quadricuspid pulmonary valve |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Congenital abnormality of arterial valves |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Premature epiphyseal closure |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Lack of ossification of tympanic anulus |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Right-left orientation of bicuspid pulmonary valve |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Bone turnover rate disorder |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Bone turnover rate decreased |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Congenital fusion of pulmonary valve segment |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Increased bone formation |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Anterior-posterior orientation of bicuspid pulmonary valve |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Oligodontia and cancer predisposition syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Oligodontia and cancer predisposition syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Poikiloderma, alopecia, retrognathism, cleft palate syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
Bicuspid pulmonary valve |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Unicuspid aortic valve |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Commissural fusion of pulmonary valve |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Bone resorption disorder |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Sacral agenesis |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Sacral agenesis |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
9q31.1q31.3 microdeletion syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Split hand, split foot malformation with sensorineural hearing loss syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Split hand, split foot malformation with sensorineural hearing loss syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
Lack of ossification of basisphenoid bone |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Decreased maintenance of bone matrix |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Acommissural unicuspid aortic valve |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Bone turnover rate increased |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Lack of ossification of lacrimal bone |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Epiphysis closure disorder |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Congenital abnormality of cardiac ventricle |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Bone turnover rate absent |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Commissural fusion of aortic valve |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Late closure of anterior fontanelle |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Progression of fetal right ventricular outflow tract obstruction |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Incomplete ossification of ilium |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Decreased osteoblast function |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Progression of fetal left ventricular outflow tract obstruction |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Accessory tissue on pulmonary valve cusp |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Incomplete ossification of interparietal bone |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Lack of bone formation |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Lack of ossification of premaxilla |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Quadricuspid aortic valve |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Unicommissural unicuspid aortic valve |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Osteoid formation disorder |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Lack of ossification of presphenoid bone |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Epiphysis formation disorder |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Early fontanelle closure |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Congenital hypoplasia of ulna and split foot syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
Functional bone disorder |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Reduced ossification |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
Incomplete ossification |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Late fontanelle closure |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |