| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A rare genetic female infertility characterized by oocyte maturation arrest during any of the various stages of meiosis I or II. In some patients, first polar body oocytes may be retrieved, but these either show fertilization failure or early embryonic arrest. Affected women have regular menstrual cycles. |
Is a |
True |
Reproductive system hereditary disorder |
Inferred relationship |
Some |
|
| Kallmann syndrome with cardiopathy is characterized by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome. |
Is a |
True |
Reproductive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare hypomyelinating leukodystrophy disorder characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms. |
Is a |
True |
Reproductive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by severe pre- and postnatal growth failure with short stature and microcephaly, facial dysmorphism (including a small jaw and prominent midface), severe insulin resistance, fatty liver, and hypertriglyceridemia developing in childhood, and primary gonadal failure. Mild global learning difficulties and acanthosis nigricans have also been reported. |
Is a |
True |
Reproductive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare difference of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by female or atypical external genitalia with reduced phallic size, hypospadias, incomplete fusion of the labioscrotal swellings, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels. |
Is a |
True |
Reproductive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by pre- and postnatal growth restriction, developmental delay, adrenal hypoplasia, genital abnormalities (such as microphallus, hypospadias, or cryptorchidism), thrombocytopenia and/or anemia, recurrent severe invasive infections, and enteropathy with chronic diarrhea. Myelodysplastic syndrome and dysmorphic features (including downslanting palpebral fissures, low-set and posteriorly rotated ears, anteverted nares, camptodactyly, and arachnodactyly, among others) may also be observed. |
Is a |
True |
Reproductive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare genetic disorder with difference of sex development characterized by primary amenorrhea, short stature, delayed bone age, decreased levels of estradiol, elevated levels of follicle-stimulating hormone and luteinizing hormone, absent or underdeveloped uterus and ovaries, delayed development of pubic and axillary hair, and normal 46,XX karyotype. |
Is a |
True |
Reproductive system hereditary 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 |
Reproductive system hereditary disorder |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Reproductive system hereditary disorder |
Inferred relationship |
Some |
|
| Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia. |
Is a |
True |
Reproductive system hereditary disorder |
Inferred relationship |
Some |
|
| A rare difference of sex development (DSD) characterised by the presence of female external genitalia, ambiguous genitalia or variable defects in virilisation in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS). |
Is a |
True |
Reproductive system hereditary disorder |
Inferred relationship |
Some |
|
| An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism. |
Is a |
True |
Reproductive system hereditary disorder |
Inferred relationship |
Some |
|
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