| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A rare syndromic neurological disorder characterized by the association of Möbius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism. There have been no further reports since 1996. |
Is a |
True |
Congenital hypogonadotropic hypogonadism (disorder) |
Inferred relationship |
Some |
|
| This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. |
Is a |
True |
Congenital hypogonadotropic hypogonadism (disorder) |
Inferred relationship |
Some |
|
| A rare endocrine syndrome characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. |
Is a |
True |
Congenital hypogonadotropic hypogonadism (disorder) |
Inferred relationship |
Some |
|
| Hypogonadism with anosmia |
Is a |
True |
Congenital hypogonadotropic hypogonadism (disorder) |
Inferred relationship |
Some |
|
| This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. |
Is a |
True |
Congenital hypogonadotropic hypogonadism (disorder) |
Inferred relationship |
Some |
|
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Is a |
False |
Congenital hypogonadotropic hypogonadism (disorder) |
Inferred relationship |
Some |
|
| This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. |
Is a |
True |
Congenital hypogonadotropic hypogonadism (disorder) |
Inferred relationship |
Some |
|
| 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 |
Congenital hypogonadotropic hypogonadism (disorder) |
Inferred relationship |
Some |
|
| A rare, genetic, neuro-endocrino-cutaneous disorder characterised by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynaecomastia, microcephaly and kyphoscoliosis. |
Is a |
True |
Congenital hypogonadotropic hypogonadism (disorder) |
Inferred relationship |
Some |
|
| Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome is a rare, non-acquired pituitary hormone deficiency syndrome characterized by 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. |
Is a |
True |
Congenital hypogonadotropic hypogonadism (disorder) |
Inferred relationship |
Some |
|
| A rare endocrine disease characterized by a miniature adult type of congenital adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organization), selective absence of pituitary luteinizing hormone in otherwise normal brain, and neonatal demise. Patients present with hypogonadotropic hypogonadism, hypoglycemia, seizures, encephalopathy and diabetes insipidus. There have been no further descriptions in the literature since 1988. |
Is a |
True |
Congenital hypogonadotropic hypogonadism (disorder) |
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 |
Congenital hypogonadotropic hypogonadism (disorder) |
Inferred relationship |
Some |
|
| Prader-Willi syndrome |
Is a |
True |
Congenital hypogonadotropic hypogonadism (disorder) |
Inferred relationship |
Some |
|
| Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985. |
Is a |
True |
Congenital hypogonadotropic hypogonadism (disorder) |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Congenital hypogonadotropic hypogonadism (disorder) |
Inferred relationship |
Some |
|
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