| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| WARS2-related combined oxidative phosphorylation defect |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
7 |
| Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
7 |
| Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital vertebral, cardiac, renal anomalies syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital vertebral, cardiac, renal anomalies syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Congenital vertebral, cardiac, renal anomalies syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Megalencephaly, severe kyphoscoliosis, overgrowth syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Megalencephaly, severe kyphoscoliosis, overgrowth syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| GRIN2B-related developmental delay, intellectual disability, autism spectrum disorder |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| EVEN-plus syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| EVEN-plus syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| EVEN-plus syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| EVEN-plus syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Polyendocrine polyneuropathy syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Infantile multisystem neurologic, endocrine, pancreatic disease |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
8 |
| Isolated encephalocele |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Isolated encephalocele |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Isolated distichiasis |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Isolated distichiasis |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Tracheo-oesophageal fistula without atresia of oesophagus |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Tracheo-oesophageal fistula without atresia of oesophagus |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Schmitt Gillenwater Kelly syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Congenital porencephalic cyst |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital hypoplasia of right optic nerve |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital hypoplasia of left optic nerve |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Bilateral congenital hypoplasia of optic nerves |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Bilateral congenital hypoplasia of optic nerves |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Female infertility due to structural congenital anomaly of vagina |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Synechia vulvae |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Congenital anomaly of vagina |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Embryonic cyst of vagina |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Congenital anomaly of vulva |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Imperforate hymen |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Imperforate vagina |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital anomaly of mother complicating pregnancy |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Congenital anomaly of vagina in mother complicating pregnancy |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Congenital anomaly of vulva in mother complicating pregnancy |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Wolffian duct cyst - female |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| Nonruptured congenital aneurysm of cerebral artery |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital onychoatrophy |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Congenital asymmetry of jaw |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Congenital mandibular asymmetry |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital maxillary asymmetry |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Elongated left ramus of mandible |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Elongated right ramus of mandible |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Fundus coloboma |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Coloboma of choroid |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital chorioretinal coloboma of right eye |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital chorioretinal coloboma of left eye |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Bilateral congenital chorioretinal coloboma of eyes |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Bilateral congenital chorioretinal coloboma of eyes |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Tibio-fibular synostosis |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Bilateral multicystic renal dysplasia |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Bilateral multicystic renal dysplasia |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Multicystic renal dysplasia |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Aplasia of patella |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital absence of right mandibular condyle |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital absence of left mandibular condyle |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Goldenhar syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Oculo-palato-digital syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Oculo-palato-digital syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Hypogonadism, diabetes mellitus, alopecia, intellectual disability and ECG abnormalities |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Megaloblastic anaemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Megaloblastic anaemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
5 |
| Oculodento-osseous dysplasia |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Oculodento-osseous dysplasia |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Oculodento-osseous dysplasia - severe type |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
8 |
| Oculodento-osseous dysplasia - severe type |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
9 |
| Oculodento-osseous dysplasia - mild type |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
8 |
| Oculodento-osseous dysplasia - mild type |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
9 |
| Kabuki make-up syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Incontinentia pigmenti syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Renal coloboma syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Renal coloboma syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Solitary median maxillary central incisor syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Solitary median maxillary central incisor syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Francois syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Preauricular cyst |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Median raphe cyst of penis |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital cyst of orbit |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Congenital bronchogenic cyst |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Coloboma of superior eyelid |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Coloboma of inferior eyelid |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Bipartite talus |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Cleft palate, large ears, small head syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Chondroectodermal dysplasia with night blindness syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
4 |
| Conductive deafness, ptosis, skeletal anomalies syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Congenital ankylosis of temporomandibular joint |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Congenital patent ductus arteriosus aneurysm |
Pathological process |
False |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Isolated congenital syngnathia |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Fetal akinesia, cerebral and retinal haemorrhage syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Supernumerary phalanx |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Colobomatous microphthalmia |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Chondroectodermal dysplasia |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
2 |
| Chondroectodermal dysplasia |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |
| Chondroectodermal dysplasia |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Colobomatous microphthalmia |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
1 |
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome |
Pathological process |
True |
Pathological developmental process |
Inferred relationship |
Some |
3 |