Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
[X]Severe mental retardation with the statement of no, or minimal, impairment of behavior |
Is a |
False |
Severe mental retardation (I.Q. 20-34) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
[X]Severe mental retardation, significant impairment of behavior requiring attention or treatment |
Is a |
False |
Severe mental retardation (I.Q. 20-34) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
[X]Severe mental retardation, other impairments of behavior |
Is a |
False |
Severe mental retardation (I.Q. 20-34) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
[X]Severe mental retardation without mention of impairment of behavior |
Is a |
False |
Severe mental retardation (I.Q. 20-34) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Profound intellectual disability (disorder) |
Is a |
False |
Severe mental retardation (I.Q. 20-34) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) |
Is a |
True |
Severe mental retardation (I.Q. 20-34) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Severe intellectual disability and progressive spastic paraplegia |
Is a |
True |
Severe mental retardation (I.Q. 20-34) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Severe intellectual disability, progressive spastic diplegia syndrome (disorder) |
Is a |
True |
Severe mental retardation (I.Q. 20-34) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder) |
Is a |
True |
Severe mental retardation (I.Q. 20-34) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Fryns Smeets Thiry syndrome |
Is a |
True |
Severe mental retardation (I.Q. 20-34) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) |
Is a |
True |
Severe mental retardation (I.Q. 20-34) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Keppen Lubinsky syndrome |
Is a |
True |
Severe mental retardation (I.Q. 20-34) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
3-methylglutaconic aciduria type 9 |
Is a |
True |
Severe mental retardation (I.Q. 20-34) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. |
Is a |
True |
Severe mental retardation (I.Q. 20-34) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Fatty acyl-coenzyme A reductase 1 deficiency (disorder) |
Is a |
True |
Severe mental retardation (I.Q. 20-34) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital insensitivity to pain with severe intellectual disability (disorder) |
Is a |
True |
Severe mental retardation (I.Q. 20-34) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Craniosynostosis, microretrognathia, severe intellectual disability syndrome (disorder) |
Is a |
True |
Severe mental retardation (I.Q. 20-34) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome |
Is a |
True |
Severe mental retardation (I.Q. 20-34) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
NRXN1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance |
Is a |
True |
Severe mental retardation (I.Q. 20-34) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital pontocerebellar hypoplasia type 14 |
Is a |
True |
Severe mental retardation (I.Q. 20-34) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Microphthalmia with brain atrophy syndrome (disorder) |
Is a |
True |
Severe mental retardation (I.Q. 20-34) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder) |
Is a |
True |
Severe mental retardation (I.Q. 20-34) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Cyclin K-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome (disorder) |
Is a |
True |
Severe mental retardation (I.Q. 20-34) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Intellectual disability, early-onset cataract, microcephaly syndrome (disorder) |
Is a |
True |
Severe mental retardation (I.Q. 20-34) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|