Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Gonadotroph hyperplasia |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lactotroph hyperplasia |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Simpson-Golabi-Behmel syndrome (disorder) |
Finding site |
False |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Proopiomelanocortin deficiency syndrome |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Partial growth hormone deficiency |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder) |
Finding site |
False |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. |
Finding site |
False |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Finding site |
False |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hypogonadism with anosmia |
Finding site |
False |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Kallman syndrome with heart disease |
Finding site |
False |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. |
Finding site |
False |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital hypogonadotropic hypogonadism (disorder) |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
This syndrome is characterised by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. |
Finding site |
False |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder) |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Sotos' syndrome |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hypogonadism with anosmia |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder) |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Finding site |
False |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Kallman syndrome with heart disease |
Finding site |
False |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. |
Finding site |
False |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Growth delay due to insulin-like growth factor type 1 deficiency (disorder) |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Beckwith-Wiedemann syndrome (disorder) |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Finding site |
False |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. |
Finding site |
False |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Isolated follicle stimulating hormone deficiency (disorder) |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hypothalamic hypothyroidism |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Transient infantile hyperthyrotropinemia (disorder) |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Familial hyperprolactinemia (disorder) |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
X-linked acrogigantism |
Finding site |
False |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Prader-Willi-like syndrome |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Kallman syndrome with heart disease |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
This syndrome is characterised by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A rare non-acquired pituitary hormone deficiency syndrome with characteristics of severe congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature. |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Familial infantile gigantism (disorder) |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Late-onset isolated adrenocorticotropic hormone deficiency (disorder) |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
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. |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Sotos' syndrome |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Prader-Willi syndrome |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
X-linked acrogigantism due to Xq26 microduplication |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Hypersomatotropic gigantism |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Beckwith-Wiedemann syndrome (disorder) |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Intellectual disability, myopathy, short stature, endocrine defect syndrome |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Functional hypogonadotropic hypogonadism (disorder) |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Boucher Neuhäuser syndrome |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
6q16 microdeletion syndrome |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Progressive cerebellar ataxia with hypogonadism |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hereditary growth hormone deficiency (disorder) |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hyperprolactinaemia due to hypothyroidism |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
4H leucodystrophy |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive. |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
A rare mitochondrial disease characterised by a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features, and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia, and telangiectasia have also been described. Cognition is normal. Atrophy of the pituitary gland has been observed in brain imaging. |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
SIM1-related Prader-Willi-like syndrome |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
MAGE family member L2-related Prader-Willi-like syndrome (disorder) |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital isolated adrenocorticotropic hormone deficiency (disorder) |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital leptin deficiency |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare genetic disease characterized by childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities. |
Finding site |
True |
Structure of distal part of pituitary |
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. |
Finding site |
True |
Structure of distal part of pituitary |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |