| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A rare genetic syndromic neurodevelopmental disorder with characteristics of moderate to mostly severe intellectual disability, speech impairment with normal or mildly delayed motor development and early-onset seizures often accompanied by developmental regression. Autistic behaviour and stereotypic movements are common. The disorder is caused by bi-allelic intragenic deletions (rarely duplications) or truncating variants in the CNTNAP2 gene (7q35-q36.1). It encodes contactin-associated protein 2 (CASPR2), a transmembrane protein from the neurexin superfamily, which is involved in neural-glia interactions and clustering of potassium channels in myelinated axons. Inheritance is autosomal recessive. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| PDE4D haploinsufficiency syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| A rare X-linked syndromic intellectual disability characterised by developmental delay and intellectual disability, early hypotonia, constipation, feeding problems, imperforate anus, characteristic behaviour (affable, eager to please), and dysmorphic craniofacial features (such as relative macrocephaly, prominent forehead with frontal hair upsweep, hypertelorism, downslanting palpebral fissures, and open mouth). Additional manifestations are partial agenesis of the corpus callosum, sensorineural hearing loss, joint laxity, cardiac anomalies, and abnormalities of the fingers and toes, among others. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A rare genetic disease characterized by a variable clinical phenotype which includes similar features but is typically less severe than in affected males. Patients may present with mild to borderline intellectual disability, anxiety, social phobia, selective mutism, attention deficit hyperactivity disorder, language deficit, neurologic signs and symptoms (such as seizures, hypotonia, and clonus), ophthalmologic anomalies (strabismus, refractive errors), and facial dysmorphism (including long face, prominent forehead, large, prominent ears, and mandibular prognathism). |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| PYCR2-related microcephaly, progressive leucoencephalopathy |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| NDE1-related microhydranencephaly |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Short stature, developmental delay, congenital heart defect syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Coffin-Lowry syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Fatty acyl-coenzyme A reductase 1 deficiency (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital insensitivity to pain with severe intellectual disability (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
| Pseudoprogeria syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
| Severe intellectual disability and progressive spastic paraplegia |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
| Severe intellectual disability, progressive spastic diplegia syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
| Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Severe oculo-renal-cerebellar syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
| 4q25 proximal deletion syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Lamb Shaffer syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| A rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 12. The disorder has characteristics of intellectual disability, global developmental delay with prominent language impairment, behavioural abnormalities and mild facial dysmorphism (including frontal bossing, downslanting palpebral fissures, epicanthal folds, broad, depressed nasal bridge with bulbous nasal tip, low-set ears with underdeveloped helices). Other associated features may include skeletal abnormalities (butterfly vertebrae, scoliosis), strabismus, optic nerve hypoplasia and brain malformations. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| X-linked intellectual disability, hypotonia, movement disorder syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterised by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioural problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome) corresponds to the appearance of BWS in elderly patients. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Menke Hennekam syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| WARS2-related combined oxidative phosphorylation defect |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| A rare neurologic disease characterized by axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, and early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Megalencephaly, severe kyphoscoliosis, overgrowth syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Glutamate ionotropic receptor NMDA type subunit 2B-related developmental delay, intellectual disability, autism spectrum disorder (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Infantile multisystem neurologic, endocrine, pancreatic disease (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Craniosynostosis, microretrognathia, severe intellectual disability syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Spondylometaphyseal dysplasia, corneal dystrophy syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Primary hypomagnesemia, refractory seizures, intellectual disability syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| A rare primary bone dysplasia characterised by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| ALDH18A1-related de Barsy syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Cyclin dependent kinase 13-related congenital heart defects, intellectual disability, facial dysmorphism syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| NRXN1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Clark Baraitser syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Congenital pontocerebellar hypoplasia type 11 (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Congenital pontocerebellar hypoplasia type 14 |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 2-related blepharophimosis, intellectual disability syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Microphthalmia with brain atrophy syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A rare neurodevelopmental syndrome characterised by developmental delay, intellectual disability of varying severity and weight disorders (overweight/obesity and eating behaviour disorders including hyperphagia, tachyphagia, food impulsiveness and a feeling of permanent hunger). Additional clinical features include learning difficulties (may be combined with dysphasia, dyspraxia, dyscalculia, dysgraphia), severe language delay, behavioural disorders (stereotypies, impulsiveness or intolerance to frustration, self or hetero aggression, autism spectrum disorder) and non-specific dysmorphism. Epilepsy and ophthalmologic abnormalities can also be observed. Endocrine abnormalities are rarely associated. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to H1.4 linker histone, cluster member mutation (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Dysequilibrium syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Cyclin K-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Aplastic anemia, intellectual disability, dwarfism syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| CIMDAG syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Chromodomain helicase DNA binding protein 4-related neurodevelopmental disorder (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed. |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Intellectual disability, cupped ears syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Intellectual disability, early-onset cataract, microcephaly syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, Leber congenital amaurosis syndrome (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| 2p21 microdeletion syndrome without cystinuria (disorder) |
Interprets |
True |
Intellectual ability (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
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