Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Keppen Lubinsky syndrome (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Pierpont syndrome (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Pierpont syndrome (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
RARS-related autosomal recessive hypomyelinating leucodystrophy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
RARS-related autosomal recessive hypomyelinating leucodystrophy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Prune exopolyphosphatase 1-related neurological syndrome (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Prune exopolyphosphatase 1-related neurological syndrome (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
3-methylglutaconic aciduria type 9 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
3-methylglutaconic aciduria type 9 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
7 |
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
9q33.3q34.11 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
9q33.3q34.11 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
16p13.2 microdeletion syndrome (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
16p13.2 microdeletion syndrome (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Xq25 microduplication syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Xq25 microduplication syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
17q24.2 microdeletion syndrome (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
17q24.2 microdeletion syndrome (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
9q21.13 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
9q21.13 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
11q22.2q22.3 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
11q22.2q22.3 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
19p13.3 microduplication syndrome (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
19p13.3 microduplication syndrome (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
20q11.2 microdeletion syndrome (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
20q11.2 microdeletion syndrome (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
8q24.3 microdeletion syndrome (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
8q24.3 microdeletion syndrome (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
Megaconial congenital muscular dystrophy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Megaconial congenital muscular dystrophy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
CNTNAP2-related developmental and epileptic encephalopathy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
CNTNAP2-related developmental and epileptic encephalopathy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
PDE4D haploinsufficiency syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
PDE4D haploinsufficiency syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
FG syndrome type 1 (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
FG syndrome type 1 (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Symptomatic form of fragile X syndrome in female carrier (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Symptomatic form of fragile X syndrome in female carrier (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
PYCR2-related microcephaly, progressive leucoencephalopathy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
PYCR2-related microcephaly, progressive leucoencephalopathy |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
NDE1-related microhydranencephaly |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
NDE1-related microhydranencephaly |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Short stature, developmental delay, congenital heart defect syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Short stature, developmental delay, congenital heart defect syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Coffin-Lowry syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Coffin-Lowry syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Fatty acyl-coenzyme A reductase 1 deficiency (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
1 |
Fatty acyl-coenzyme A reductase 1 deficiency (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Congenital insensitivity to pain with severe intellectual disability (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Congenital insensitivity to pain with severe intellectual disability (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
8 |
Severe intellectual disability and progressive spastic paraplegia |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
8 |
Severe intellectual disability, progressive spastic diplegia syndrome (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
7 |
Severe intellectual disability, progressive spastic diplegia syndrome (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
8 |
Severe oculo-renal-cerebellar syndrome (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
11 |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
12 |
Severe intellectual disability and progressive spastic paraplegia |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
9 |
4q25 proximal deletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
4q25 proximal deletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
Lamb Shaffer syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Lamb Shaffer syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
12p12.1 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
12p12.1 microdeletion syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
X-linked intellectual disability, hypotonia, movement disorder syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
1 |
X-linked intellectual disability, hypotonia, movement disorder syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
7 |
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
8 |
Acute renal failure following procedure (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Impaired contraction of gallbladder (finding) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
1 |
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
X-linked intellectual disability, short stature, overweight syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
X-linked intellectual disability, short stature, overweight syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Baraitser Winter cerebrofrontofacial syndrome (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Baraitser Winter cerebrofrontofacial syndrome (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Alzheimer disease with psychosis (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |