| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Keppen Lubinsky syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Pierpont syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Pierpont syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Prune exopolyphosphatase 1-related neurological syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Prune exopolyphosphatase 1-related neurological syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| 3-methylglutaconic aciduria type 9 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
| 3-methylglutaconic aciduria type 9 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Anterior maxillary protrusion, strabismus, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Anterior maxillary protrusion, strabismus, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
| Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| 9q33.3q34.11 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| 9q33.3q34.11 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| 16p13.2 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| 16p13.2 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Xq25 microduplication syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Xq25 microduplication syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| 17q24.2 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| 17q24.2 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| 9q21.13 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
| 9q21.13 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| 11q22.2q22.3 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| 11q22.2q22.3 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| 19p13.3 microduplication syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| 19p13.3 microduplication syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| 20q11.2 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| 20q11.2 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| 8q24.3 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| 8q24.3 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Megaconial congenital muscular dystrophy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Megaconial congenital muscular dystrophy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Contactin associated protein 2-related developmental and epileptic encephalopathy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Contactin associated protein 2-related developmental and epileptic encephalopathy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Encephalopathy due to mitochondrial and peroxisomal fission defect |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Encephalopathy due to mitochondrial and peroxisomal fission defect |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Phosphodiesterase 4D haploinsufficiency syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Phosphodiesterase 4D haploinsufficiency syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| FG syndrome type 1 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| FG syndrome type 1 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Symptomatic form of fragile X syndrome in female carrier |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Symptomatic form of fragile X syndrome in female carrier |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
| Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
| Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| nudE neurodevelopment protein 1-related microhydranencephaly |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| nudE neurodevelopment protein 1-related microhydranencephaly |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Short stature, developmental delay, congenital heart defect syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
| Short stature, developmental delay, congenital heart defect syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Coffin-Lowry syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Coffin-Lowry syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Fatty acyl-coenzyme A reductase 1 deficiency |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
1 |
| Fatty acyl-coenzyme A reductase 1 deficiency |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
| Congenital insensitivity to pain with severe intellectual disability |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Congenital insensitivity to pain with severe intellectual disability |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
| Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
8 |
| Severe intellectual disability and progressive spastic paraplegia |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
8 |
| Severe intellectual disability, progressive spastic diplegia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
| Severe intellectual disability, progressive spastic diplegia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
8 |
| Severe oculo-renal-cerebellar syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
11 |
| Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
12 |
| Severe intellectual disability and progressive spastic paraplegia |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
9 |
| 4q25 proximal deletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| 4q25 proximal deletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Lamb Shaffer syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
| Lamb Shaffer syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| 12p12.1 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| 12p12.1 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
6 |
| X-linked intellectual disability, hypotonia, movement disorder syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
1 |
| X-linked intellectual disability, hypotonia, movement disorder syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
| Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
7 |
| Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
8 |
| Acute renal failure following procedure |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Impaired contraction of gallbladder |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
1 |
| Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
4 |
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
5 |
| X-linked intellectual disability, short stature, overweight syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
| X-linked intellectual disability, short stature, overweight syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Baraitser Winter cerebrofrontofacial syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
2 |
| Baraitser Winter cerebrofrontofacial syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |
| Alzheimer disease with psychosis |
Has interpretation |
True |
Impaired |
Inferred relationship |
Existential restriction modifier |
3 |