| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogeneous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity. |
Is a |
True |
Obesity due to genetic disease. |
Inferred relationship |
Some |
|
| Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features. |
Is a |
True |
Obesity due to genetic disease. |
Inferred relationship |
Some |
|
| Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by mild to profound intellectual disability, delayed speech, obesity, ocular anomalies (blepharophimosis, blepharoptosis, hyperopic astigmatism, decreased visual acuity, strabismus, abducens nerve palsy, and/or accommodative esotropia), and dermal manifestations, such as chronic atopic dermatitis. Associated craniofacial dysmorphism includes macrocephaly, maxillary hypoplasia, mandibular prognathism, and crowding of teeth. |
Is a |
True |
Obesity due to genetic disease. |
Inferred relationship |
Some |
|
| An X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state. |
Is a |
True |
Obesity due to genetic disease. |
Inferred relationship |
Some |
|
| A rare, X-linked syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, obesity, hypogonadism, tapering fingers and microphallus with small or undescended testes, localized to Xp11.3-Xq23. Additional variable manifestations include alopecia, dental and eyesight anomalies, speech disabilities, and decreased body strength. |
Is a |
True |
Obesity due to genetic disease. |
Inferred relationship |
Some |
|
| Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature. |
Is a |
True |
Obesity due to genetic disease. |
Inferred relationship |
Some |
|
| A rare form of syndromic obesity characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature. |
Is a |
True |
Obesity due to genetic disease. |
Inferred relationship |
Some |
|
| A rare X-linked syndromic intellectual disability characterized by mild to profound intellectual disability, microcephaly, growth delay, and hypogenitalism. Obesity, early-onset diabetes and epilepsy are more variably present. |
Is a |
True |
Obesity due to genetic disease. |
Inferred relationship |
Some |
|
| A rare genetic endocrine disease characterized by early onset of severe intractable diarrhea and intestinal malabsorption, followed by obesity and hormonal deficiencies due to insufficient activation of several prohormones, resulting in hypocortisolism, hypothyroidism, diabetes insipidus, hypogonadism, growth deficiency, and diabetes mellitus. Extent and age of onset of hormone deficiencies are variable between patients. |
Is a |
True |
Obesity due to genetic disease. |
Inferred relationship |
Some |
|
| MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype. |
Is a |
True |
Obesity due to genetic disease. |
Inferred relationship |
Some |
|
| A rare genetic syndromic intellectual disability characterized by language delay and mild to moderate intellectual disability associated with truncal obesity, congenital nonprogressive retinal dystrophy with poor night vision and reduced visual acuity, and micropenis in males. Cataracts may occur in the second or third decade of life. |
Is a |
True |
Obesity due to genetic disease. |
Inferred relationship |
Some |
|
| Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterized by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinemia, in the presence of preserved reproductive function. |
Is a |
True |
Obesity due to genetic disease. |
Inferred relationship |
Some |
|
| A rare syndromic microphthalmia characterized by bilateral, usually asymmetrical, microphthalmia associated typically with a unilateral coloboma, truncal obesity, borderline to mild intellectual disability, hypogenitalism and, more variably, nystagmus, cataracts and developmental delay. |
Is a |
True |
Obesity due to genetic disease. |
Inferred relationship |
Some |
|
| A rare, genetic, non-syndromic, obesity disease characterized by severe, early-onset obesity, associated with major hyperphagia and endocrine abnormalities, resulting from leptin receptor deficiency. |
Is a |
True |
Obesity due to genetic disease. |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Obesity due to genetic disease. |
Inferred relationship |
Some |
|
| A rare genetic neurological disorder characterized by the association of congenital spastic paraplegia with global developmental delay and intellectual disability, ophthalmologic abnormalities (including nystagmus, reduced visual acuity, or hypermetropia), and obesity. Additional manifestations are brachy plagiocephaly and dysmorphic facial features. Brain imaging may show dilated ventricles, abnormal myelination, and mild generalized atrophy. Homozygous loss-of-function variants of KIDINS220 associated with a fetal lethal phenotype with ventriculomegaly and limb contractures have been reported. |
Is a |
True |
Obesity due to genetic disease. |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Obesity due to genetic disease. |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, obesity, macrocephaly, behavioral abnormalities (such as aggressive tantrums and autistic-like behavior), and delayed speech development. Dysmorphic facial features include large, square forehead, prominent supraorbital ridges, broad nasal tip, large ears, prominent lower lip, and minor dental anomalies such as small upper lateral incisors and central incisor gap. |
Is a |
True |
Obesity due to genetic disease. |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Obesity due to genetic disease. |
Inferred relationship |
Some |
|
| A rare syndromic obesity characterized by early-onset severe obesity, hyperphagia and global developmental delay with specific impairment of short term memory and language delay. Patients may represent moderate intellectual disability, stereotyped behaviors, autistic features, impaired nociception, hypotonia and seizures. Facial asymmetry and streak ovaries were also reported in a few cases. |
Is a |
True |
Obesity due to genetic disease. |
Inferred relationship |
Some |
|
| A rare overgrowth/obesity syndrome characterized by mild developmental delay (notably speech delay), behavior abnormalities (including autistic or attention deficit hyperactivity disorder features, hypersociability/overfriendliness), overweight/obesity and mild dysmorphic features (including deep set eyes, broad bulbous nasal tip, large, everted ears, and thin upper lip). Other clinical features include variable and mild intellectual disability when present, broad short hands, and feet. |
Is a |
True |
Obesity due to genetic disease. |
Inferred relationship |
Some |
|
| Childhood obesity due to genetic disease. |
Is a |
True |
Obesity due to genetic disease. |
Inferred relationship |
Some |
|
FHIR
© HL7.org
|
Server Home |
FHIR Server FHIR Server 3.7.22-SNAPSHOT
|
FHIR Version n/a
User: [n/a]