Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Primary ovarian failure |
Is a |
True |
Primary hypogonadism (disorder) |
Inferred relationship |
Some |
|
Primary testicular failure (disorder) |
Is a |
True |
Primary hypogonadism (disorder) |
Inferred relationship |
Some |
|
A rare, genetic, syndromic intellectual disability characterised by developmental delay, mild to moderate intellectual disability, low birth weight, moderate to severe short stature, microcephaly and variable hypergonadotropic hypogonadism. Mild facial dysmorphism include upslanted palpebral fissures and prominent nasal bridge. |
Is a |
True |
Primary hypogonadism (disorder) |
Inferred relationship |
Some |
|
A rare developmental defect characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears). |
Is a |
True |
Primary hypogonadism (disorder) |
Inferred relationship |
Some |
|
A rare endocrine disorder characterized by primary hypogonadism and partial alopecia. Females present with Mullerian hypoplasia, absent or streak ovaries, hypoplastic internal genitalia, primary amenorrhea, and sparse or absent axillary and pubic hair. Some patients also presented sparse eyebrows, microcephaly, flat occiput, dorsal kyphosis or mild intellectual disability. The only described male presents with germinal cell aplasia. Affected individual all present partial scalp alopecia. |
Is a |
True |
Primary hypogonadism (disorder) |
Inferred relationship |
Some |
|
This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH). |
Is a |
True |
Primary hypogonadism (disorder) |
Inferred relationship |
Some |
|
A rare multiple congenital anomalies syndrome characterized by association of congenital total alopecia, mild intellectual deficit and hypergonadotropic hypogonadism. |
Is a |
True |
Primary hypogonadism (disorder) |
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 |
Primary hypogonadism (disorder) |
Inferred relationship |
Some |
|
This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. |
Is a |
True |
Primary hypogonadism (disorder) |
Inferred relationship |
Some |
|
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. |
Is a |
True |
Primary hypogonadism (disorder) |
Inferred relationship |
Some |
|
A rare, genetic, syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, facial dysmorphism (including a long face, deep-set eyes, narrow-based, broad nose with nostril colobomata, mandibular prognathism), hypergonadotrophic hypogonadism, eunuchoid habitus, diabetes mellitus type 1, and epilepsy. There have been no further descriptions in the literature since 1990. |
Is a |
True |
Primary hypogonadism (disorder) |
Inferred relationship |
Some |
|
Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism. |
Is a |
True |
Primary hypogonadism (disorder) |
Inferred relationship |
Some |
|
Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities). |
Is a |
True |
Primary hypogonadism (disorder) |
Inferred relationship |
Some |
|
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982. |
Is a |
True |
Primary hypogonadism (disorder) |
Inferred relationship |
Some |
|
Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. |
Is a |
True |
Primary hypogonadism (disorder) |
Inferred relationship |
Some |
|