| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| 3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (including slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Optic atrophy, intellectual disability syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| A rare, genetic, neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy). |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| 2p13.2 microdeletion syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterised by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behaviour patterns are highly variable and range from sociable and affectionate to autistic behaviour. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 5p13 microduplication syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| 11p15.4 microduplication syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Kagami-Ogata syndrome is a rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoscoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Intellectual disability, short stature, hypertelorism syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| A rare syndromic intellectual disability characterised by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnoea. There have been no further descriptions in the literature since 1987. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Pseudoleprechaunism syndrome Patterson type (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Grubben, De Cock, Borghgraef syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Facial dysmorphism, cleft palate, loose skin syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Craniofaciofrontodigital syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Cerebrofacioarticular syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterised by severe generalised lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjögren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Wiedemann Steiner syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Intellectual disability due to nutritional deficiency (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Craniodigital syndrome and intellectual disability syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Hypotonia-speech impairment-severe cognitive delay syndrome is a rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip). |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Intellectual disability, alacrima, achalasia syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Intellectual disability, polydactyly, uncombable hair syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Intellectual disability, spasticity, ectrodactyly syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate intellectual disability and psychomotor delay, Robin sequence (including severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophrys, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Intellectual disability Wolff type |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Macrocephaly and developmental delay syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Malan overgrowth syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Agenesis of corpus callosum and abnormal genitalia syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Oro-facial digital syndrome type 14 (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
| A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Intellectual disability Birk-Barel type |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Cryptorchidism, arachnodactyly, intellectual disability syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Intellectual disability, myopathy, short stature, endocrine defect syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A neurological disorder with characteristics of moderate to severe developmental delay and intellectual disability and mild dysmorphic features. Early symptoms include hypotonia, delayed development of motor skills, speech delay, hypertelorism, broad nasal bridge, and fingers with tapered ends. Other features include microcephaly, seizures, recurrent ear infections, strabismus, amblyopia and hyperopia. Behavioral problems such as hyperactivity, attention deficit disorder, aggression, anxiety and autism spectrum occur in some cases. Caused by mutations in the HIVEP2 gene leading to a shortage of functional HIVEP2 protein. Inherited in an autosomal dominant pattern however most cases of this condition result from de novo mutations in the gene. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Microcephalic primordial dwarfism Montreal type |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Nijmegen breakage syndrome-like disorder |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionally, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the butterfly sign is characteristically observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Purine rich element binding protein A syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Protein phosphatase 2 regulatory subunit b (b56) delta-related intellectual disability (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A rare genetic syndrome with characteristics of severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction. There is evidence this disease is caused by homozygous mutation in the TUBA8 gene on chromosome 22q11. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A rare disorder of branched-chain amino acid metabolism with characteristics of childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids. Caused by homozygous mutation in the BCKDK gene on chromosome 16p11. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Jawad syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Developmental and speech delay due to SOX5 deficiency |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| 15q overgrowth syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Autism spectrum disorder due to AUTS2 deficiency |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| White Sutton syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Warburg micro syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| RAB18 deficiency |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Disease with characteristics of seizures that are resistant to treatment and begin in infancy. Development is impaired most children have severe intellectual disability and little or no speech. Common features include stereotypies, bruxism, disrupted sleep, feeding difficulties and gastrointestinal problems. Some individuals have distinctive facial features including a high and broad forehead, large and deep-set eyes, a well-defined philtrum, high palate. Microcephaly, scoliosis and tapered fingers have also been reported. Caused by mutations in the CDKL5 gene, which disrupts brain development. Inherited in an X-linked dominant pattern. The CDKL5 gene is located on the X chromosome however almost all cases of this condition result from de novo mutations in the CDKL5 gene. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| A rare hereditary syndromic intellectual disability with characteristics of craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Spondyloepimetaphyseal dysplasia Genevieve type (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Zechi Ceide syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| A rare genetic X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features. Caused by hemizygous mutation in the NSDHL gene on chromosome Xq28. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Roifman syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Intellectual disability with strabismus syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Intellectual disability, facial dysmorphism, hand anomalies syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A rare congenital disorder of glycosylation with characteristics of moderate intellectual disability, short stature, mild skeletal changes and distinctive facial features with coarse face, synophrys and deep nasolabial ridges. Skeletal features include broad ribs, stocky long bones, and short femoral necks with coxa valga, clinodactyly and broad thumbs. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| 9q31.1q31.3 microdeletion syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| 14q24.1q24.3 microdeletion syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| A rare chromosomal anomaly with characteristics of moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip) and reduced sensitivity to pain. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| A rare genetic syndromic intellectual disability disorder with characteristics of global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia) and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth. Caused by heterozygous mutation in the GATAD2B gene on chromosome 1q21. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Short ulna, dysmorphism, hypotonia, intellectual disability syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Distal Xq28 microduplication syndrome (disorder) |
Has interpretation |
False |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Deafness with onychodystrophy syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
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