Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Maternal obesity complicating pregnancy, childbirth and the puerperium, antepartum |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
1 |
Generalized obesity |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
1 |
Obesity (disorder) |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
1 |
Fat pad syndrome |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
2 |
Central obesity |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
1 |
Morbid obesity |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
1 |
Obesity by adipocyte growth pattern (disorder) |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
1 |
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterized by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established. |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
5 |
A rare form of syndromic obesity characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature. |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
3 |
adipositas specificeret iht. alder ved debut |
Interprets |
False |
Body weight measure |
Inferred relationship |
Some |
1 |
Obesity by contributing factors (disorder) |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
1 |
Hyperplastic obesity (disorder) |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
1 |
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. |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
1 |
Hypothyroid obesity |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
2 |
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. |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
3 |
Overdreven vægtstigning under graviditet |
Interprets |
False |
Body weight measure |
Inferred relationship |
Some |
1 |
Drug-induced obesity |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
2 |
Steatopygia |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
2 |
Obesity by fat distribution pattern (disorder) |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
1 |
Hypothalamic obesity |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
2 |
Body mass index at or above 95th percentile as compared to children of the same age and sex |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
2 |
Severe obesity |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
1 |
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. |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
3 |
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. |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
2 |
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. |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
1 |
Extreme obesity with alveolar hypoventilation |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
4 |
Endogenous obesity |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
1 |
Severe obesity complicating pregnancy |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
1 |
Adiposogenital dystrophy (disorder) |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
1 |
Mauriac's syndrome |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
4 |
Hyperinsulinar obesity |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
1 |
Android obesity |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
1 |
Constitutional obesity |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
1 |
Lifelong obesity |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
1 |
Hypertrophic obesity |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
1 |
Familial obesity |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
1 |
Hypogonadal obesity |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
1 |
X-linked intellectual disability with precocious puberty and obesity syndrome |
Interprets |
False |
Body weight measure |
Inferred relationship |
Some |
|
Adult-onset obesity (disorder) |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
2 |
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. |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
2 |
Obesity of endocrine origin |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
1 |
Gynaecoid obesity |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
1 |
Proopiomelanocortin deficiency causes severe obesity beginning at an early age. Affected individuals also have low levels of adrenocorticotropic hormone (ACTH) and tend to have red hair and pale skin. |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
1 |
Hypertrophy of fat pad of knee |
Interprets |
False |
Body weight measure |
Inferred relationship |
Some |
3 |
Obesity caused by energy imbalance (disorder) |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
1 |
Peripheral obesity |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
1 |
Localised adiposity |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
1 |
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. |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
2 |
Simple obesity (disorder) |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
1 |
A rare group of multiple congenital anomalies/dysmorphic syndrome characterized 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 heterogenous 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. |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
4 |
Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality. |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
4 |
A rare potentially life-threatening genetic endocrine disease characterised by childhood-onset hyperphagia and obesity, alveolar hypoventilation, dysautonomia (for example impaired gastrointestinal motility, abnormal cardiac rhythm, thermal dysregulation), hypothalamic dysfunction and neurobehavioural disorders. Central hypothyroidism, endocrine anomalies (for example glucocorticoid deficiency, puberty dysregulation), electrolyte imbalances (for example hypo/hypernatraemia, hypochloraemia), respiratory failure and late-onset neuroendocrine tumours may also be associated. |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
3 |
A rare genetic syndromic intellectual disability disorder with characteristics of 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. |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
4 |
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
4 |
Body weight as reported by individual. |
Is a |
False |
Body weight measure |
Inferred relationship |
Some |
|
A rare genetic form of obesity characterised by morbid obesity, hypertension, type 2 diabetes mellitus and dyslipidaemia leading to early coronary disease, myocardial infarction and congestive heart failure. Intellectual disability and decreased sperm counts or azoospermia have also been reported. |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
1 |
A rare genetic form of obesity characterised by severe early-onset obesity, hyperphagia, insulin resistance with hyperinsulinaemia, reduced adult final height, delayed speech and language development and a tendency for social isolation and aggressive behaviour. |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
2 |
A rare genetic non-syndromic obesity disease with characteristics of severe early-onset obesity associated with major hyperphagia and endocrine abnormalities resulting from leptin receptor deficiency. Caused by homozygous mutation in the gene encoding the leptin receptor (LEPR) on chromosome 1p31. |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
3 |
Hypertrophy of fat pad of right knee (disorder) |
Interprets |
False |
Body weight measure |
Inferred relationship |
Some |
3 |
Hypertrophy of fat pad of left knee (disorder) |
Interprets |
False |
Body weight measure |
Inferred relationship |
Some |
3 |
Obesity in adolescence (disorder) |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
2 |
Obese class III |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
1 |
High body weight (finding) |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
1 |
A rare genetic form of obesity with characteristics of severe early-onset obesity, hyperphagia and variable presence of cognitive impairment and behavioral disorder, including autistic spectrum behavior, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features. |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
3 |
6q16 microdeletion syndrome |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
2 |
The actual body weight prior to removal of a limb or part of a limb. |
Is a |
True |
Body weight measure |
Inferred relationship |
Some |
|
Obesity due to pituitary disease |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
1 |
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. |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
2 |
A rare Prader-Willi-like syndrome characterized by severe obesity due to SIM1 mutation, in addition to some clinical features of Prader-Willi- syndrome including intellectual disability, developmental delay, behavior problems and facial dysmorphism. Unlike Prader-Willi syndrome, short stature, hypotonia and hypogonadism may not be observed. |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
4 |
A rare Prader-Willi-like syndrome characterized by arthrogryposis, including contractures of the proximal and distal interphalangeal joints, and autism spectrum disorder due to MAGEL2 mutation. Overlapping phenotypes with Prader-Willi syndrome include hypotonia, feeding difficulties, weight gain, developmental delay, intellectual disability and hypogonadism. Minority of patients manifest hyperphagia and morbid obesity in contrast to patients with Prader-Willi syndrome. |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
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 |
Body weight measure |
Inferred relationship |
Some |
6 |
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. |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
4 |
A rare genetic disease characterized by early-onset severe obesity due to mutations in single genes acting on the development and function of the hypothalamus or the leptin-melanocortin pathway, leading to disruption of energy homeostasis and endocrine dysfunction. Patients present with a body mass index over three standard deviations above normal at less than five years of age, accompanied by a variety of signs and symptoms according to the mutated gene, including hyperphagia, insulin resistance, reduced basal metabolic rate, or hypogonadism, among others. |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
1 |
A form of monogenic obesity with characteristics of severe early-onset obesity and marked hyperphagia. Patients with congenital leptin deficiency are severely hyperphagic from early infancy and, although birthweight is normal, they rapidly become obese during early childhood. An increased susceptibility to infections has also been reported in these infants and appears to be associated with reduced numbers of circulating CD4+ T cells, and impaired T cell proliferation and cytokine release. Absence of serum leptin is caused by homozygous frameshift or missense mutations in the ob gene (7q31.3) and is inherited as an autosomal recessive trait. |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
3 |
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. |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
5 |
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 |
Body weight measure |
Inferred relationship |
Some |
3 |
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. |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
1 |
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 |
Body weight measure |
Inferred relationship |
Some |
6 |
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. |
Interprets |
True |
Body weight measure |
Inferred relationship |
Some |
2 |