Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Disorder of sexual differentiation |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
1 |
Reifenstein syndrome |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
1 |
Mixed gonadal dysgenesis |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital anomaly of endocrine gonad |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
1 |
Reifenstein syndrome |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital anomaly of endocrine gonad |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
1 |
Mixed gonadal dysgenesis |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
1 |
Undervirilization of male due to steroidogenic acute regulatory protein deficiency |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
1 |
Virilization of female due to SRY gene translocation |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
1 |
Virilization of female due to SOX9 gene duplication |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
1 |
Hyperandrogenism due to non-classic type of 21-hydroxylase deficiency |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
1 |
Mixed gonadal dysgenesis |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital anomaly of endocrine gonad |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
3 |
Mixed gonadal dysgenesis |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
3 |
Complete androgen insensitivity syndrome |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
1 |
Partial androgen insensitivity syndrome |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
|
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
|
Deafness and hypogonadism syndrome |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
|
X-linked intellectual disability Van Esch type |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
|
X-linked intellectual disability Cilliers type |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
|
Syndromic X-linked intellectual disability type 7 |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
|
Primary hypergonadotropic hypogonadism and partial alopecia syndrome |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
|
Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
|
X-linked intellectual disability with precocious puberty and obesity syndrome |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
|
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
|
Hydrocephalus with obesity and hypogonadism syndrome |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
|
Hypogonadism with mitral valve prolapse and intellectual disability syndrome |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
1 |
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
|
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
|
Hypergonadotropic hypogonadism with cataract syndrome |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
3 |
Hypergonadotropic hypogonadism with cataract syndrome |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
2 |
Intellectual disability, balding, patella luxation, acromicria syndrome |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
|
Kallman syndrome with heart disease |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
|
Congenital cataract with deafness and hypogonadism syndrome |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
5 |
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
|
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
2 |
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
3 |
Congenital hypogonadotropic hypogonadism |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
2 |
Frontonasal dysplasia with alopecia and genital anomaly syndrome |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
5 |
46,XY partial gonadal dysgenesis |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
1 |
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
7 |
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
6 |
Puberty disorder due to estrogen resistance |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
1 |
McCune Albright syndrome |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
5 |
Spastic paraplegia with precocious puberty syndrome |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
4 |
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
4 |
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
4 |
Hypogonadism with anosmia |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
1 |
Hypogonadism with prune belly syndrome |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
1 |
X-linked intellectual disability Van Esch type |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
1 |
X-linked intellectual disability Cilliers type |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
1 |
Syndromic X-linked intellectual disability type 7 |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
1 |
Primary hypergonadotropic hypogonadism and partial alopecia syndrome |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked intellectual disability with precocious puberty and obesity syndrome |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
1 |
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
1 |
Hydrocephalus with obesity and hypogonadism syndrome |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
1 |
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
2 |
Intellectual disability, balding, patella luxation, acromicria syndrome |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
1 |
Kallman syndrome with heart disease |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
2 |
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
3 |
Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
3 |
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
2 |
Deafness and hypogonadism syndrome |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
1 |
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
2 |
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
6 |
Peripheral precocious puberty |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
1 |
Intellectual disability, myopathy, short stature, endocrine defect syndrome |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
2 |
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
2 |
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
1 |
Prader-Willi-like syndrome |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
3 |
Alopecia, progressive neurological defect, endocrinopathy syndrome |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
3 |
Congenital cataract with deafness and hypogonadism syndrome |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
2 |
Frontonasal dysplasia with alopecia and genital anomaly syndrome |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
3 |
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
3 |
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
2 |
Intellectual disability, balding, patella luxation, acromicria syndrome |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
3 |
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
3 |
McCune Albright syndrome |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
1 |
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
1 |
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
4 |
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
5 |
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
1 |
Obesity due to leptin receptor gene deficiency |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
1 |
Hyperandrogenism due to cortisone reductase deficiency |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
2 |
Familial adrenal hypoplasia with absent pituitary luteinizing hormone |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
2 |
Ovotestis |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
1 |
Prader-Willi syndrome |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
1 |
Diabetes, hypogonadism, deafness, intellectual disability syndrome |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
2 |
Precocious pubarche |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
3 |
McCune Albright syndrome |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
4 |
Spastic paraplegia with precocious puberty syndrome |
Finding site |
False |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
3 |
Premature puberty due to hypothyroidism |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
2 |
Functional hypogonadotropic hypogonadism |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
2 |
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
5 |
6q16 microdeletion syndrome |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
4 |
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
5 |
Progressive cerebellar ataxia with hypogonadism |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
4 |
Testicular lesion in androgen insensitivity syndrome |
Finding site |
True |
Gonadal endocrine structure |
Inferred relationship |
Existential restriction modifier |
2 |