| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A rare X-linked syndromic intellectual disability characterized by intellectual disability of variable degree, behavioral anomalies (including autism, mood disorders, obsessive-compulsive behavior, and hetero- and auto-aggression), and epilepsy. Progressive neurological symptoms like movement disorders and spasticity, as well as subtle dysmorphic features have also been reported. Heterozygous females may be as severely affected as males. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
| Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Combined oxidative phosphorylation defect type 23 |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| A rare genetic disease characterised by infantile onset of severe inflammatory bowel disease manifesting with bloody diarrhoea and failure to thrive, and central nervous system disease with global developmental delay and regression, impaired speech, hypotonia, hyperreflexia, and epilepsy. Brain imaging shows global cerebral atrophy, thin corpus callosum, delayed myelination, and posterior leucoencephalopathy. Cases with recurrent infections and impaired T-cell responses to stimulation, as well as decreased T-cell subsets, have been reported. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Gabriele-de Vries syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| GNB5-related intellectual disability, cardiac arrhythmia syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Growth delay, intellectual disability, hepatopathy syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Non-specific syndromic intellectual disability |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay, intellectual disability, early-onset seizures, and facial dysmorphism (including arched eyebrows, long palpebral fissures, prominent nasal bridge, large ears, thin upper lip, and high arched palate). Other reported features are microcephaly, hypotonia, growth retardation, congenital heart defects, and malformations of the fingers and toes, as well as additional neurologic manifestations (such as ataxia or spastic quadriplegia). Brain imaging may show hypoplastic corpus callosum, white matter abnormalities, or cortical atrophy. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Witteveen Kolk syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Intellectual disability, epilepsy, extrapyramidal syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| VPS11-related autosomal recessive hypomyelinating leucodystrophy |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Seizures, scoliosis, macrocephaly syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Short stature, brachydactyly, obesity, global developmental delay syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterised by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behaviour, and café-au-lait spots, among others. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Macrocephaly, intellectual disability, left ventricular non compaction syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Basel Vanagaite Smirin Yosef syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
| Metopic ridging, ptosis, facial dysmorphism syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Sanjad Sakati syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| A rare genetic syndromic intellectual disability characterized by moderate to severe intellectual deficiency, language deficit (completely absent or significantly impaired speech), and distinctive facial dysmorphism (long face, straight eyebrows, and, less frequently, low-set ears and café-au-lait spots). Additional, variably observed features include motor delays, behavioral difficulties, and seizures. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Severe oculo-renal-cerebellar syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
| Severe oculo-renal-cerebellar syndrome (disorder) |
Has interpretation |
False |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
10 |
| Fryns Smeets Thiry syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Fryns Smeets Thiry syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Progressive cerebello-cerebral atrophy (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Progressive cerebello-cerebral atrophy (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| SATB2-associated syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| SATB2-associated syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Periprosthetic aortic valve regurgitation |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| A rare bone disease characterized by secondary hyperparathyroidism in patients with chronic renal failure, caused by improper treatment in the early stages of the disease with retention of phosphorus, vitamin D deficiency, and disturbed calcium-phosphorus metabolism, which result in increased parathyroid hormone levels. Patients present with short stature, severe changes of the skull and jaws as well as other skeletal deformities, dental anomalies, brown tumors in the mouth, hearing loss, and neuropsychiatric disorders. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Behavioral disturbance due to multi-infarct dementia |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Right ventricular failure due to pulmonary disease |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Right ventricular failure due to disorder of pulmonary circulation (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Right ventricular failure due to right ventricular infarction (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Right ventricular failure due to heart valve disorder (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Renal osteodystrophy due to hyperparathyroidism (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Impaired tissue integrity |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Impairment of integrity of oral mucous membrane (finding) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal dominant deafness with onychodystrophy syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Autosomal dominant deafness with onychodystrophy syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability, overweight or obesity, behavioral abnormalities (including hyperactivity, aggressive behavior, anxiety, mood disorder, or autistic features), and facial dysmorphism (such as high forehead, full eyebrows and/or synophrys, upturned nose, and fleshy ears, among others). Additional reported manifestations are hypotonia, ocular anomalies, anomalies of the fingers and toes, joint hypermobility, or abnormal pigmentation. Brain imaging may show mild nonspecific abnormalities. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability, overweight or obesity, behavioral abnormalities (including hyperactivity, aggressive behavior, anxiety, mood disorder, or autistic features), and facial dysmorphism (such as high forehead, full eyebrows and/or synophrys, upturned nose, and fleshy ears, among others). Additional reported manifestations are hypotonia, ocular anomalies, anomalies of the fingers and toes, joint hypermobility, or abnormal pigmentation. Brain imaging may show mild nonspecific abnormalities. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with global developmental delay, intellectual disability, infantile-onset seizures, and spastic tetraplegia. Brain imaging may show delayed myelination and cerebral atrophy. Marked intrafamilial variability has been reported. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with global developmental delay, intellectual disability, infantile-onset seizures, and spastic tetraplegia. Brain imaging may show delayed myelination and cerebral atrophy. Marked intrafamilial variability has been reported. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Incomplete induced termination of pregnancy complicated by renal failure |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Impaired response to stem cell mobilization procedure (finding) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Renal failure due to and following complete induced termination of pregnancy |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Impaired ability to manage medication regime |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Faecal incontinence following creation of ileo-anal pouch |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Cardiac tamponade following operative procedure (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Profound hearing loss |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Profound sensorineural hearing loss |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Albinism-deafness syndrome of Tietz (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Psychogenic urinary incontinence (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Cognitive impairment caused by ethanol |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Cross syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Cross syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Microcephalus with brachydactyly and kyphoscoliosis syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| A rare leukodystrophy characterized by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia, and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy, and diffuse spinal cord volume loss. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
| A rare leukodystrophy characterized by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia, and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy, and diffuse spinal cord volume loss. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
10 |
| Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| QRICH1-related intellectual disability, chondrodysplasia syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| QRICH1-related intellectual disability, chondrodysplasia syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Keppen Lubinsky syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Keppen Lubinsky syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
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