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 |