| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
Show
|
| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
Show
|
| HP:0000013 | Hypoplastic uterus | |
Show
|
| HP:0000040 | Enlarged penis | |
Show
|
| HP:0000061 | Ambiguous genitalia, female | |
Show
|
| HP:0000063 | Fused labia minora | "Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction." [HPO:curators] |
Show
|
| HP:0000079 | Abnormality of the urinary tract | |
Show
|
| HP:0000098 | Increased body height | |
Show
|
| HP:0000127 | Renal salt wasting | |
Show
|
| HP:0000140 | Menstrual abnormalities | |
Show
|
| HP:0000360 | Tinnitus | "Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation." [Cochrane:ab005233] |
Show
|
| HP:0000421 | Epistaxis | |
Show
|
| HP:0000771 | Gynecomastia | |
Show
|
| HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
Show
|
| HP:0000840 | Adrenogenital syndrome | |
Show
|
| HP:0000859 | Increased plasma aldosterone | |
Show
|
| HP:0000868 | Decreased fertility in females | |
Show
|
| HP:0000939 | Osteoporosis | "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators] |
Show
|
| HP:0000953 | Hyperpigmentation | |
Show
|
| HP:0001007 | Hirsutism | "Abnormally increased hair growth." [HPO:curators] |
Show
|
| HP:0001197 | Prenatal manifestations and birth abnormalities | |
Show
|
| HP:0001297 | Stroke | |
Show
|
| HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
Show
|
| HP:0001959 | Polydipsia | |
Show
|
| HP:0002013 | Vomiting | |
Show
|
| HP:0002018 | Nausea | |
Show
|
| HP:0002153 | Hyperkalemia | |
Show
|
| HP:0002170 | Intracranial hemorrhage | "A hemorrhage (bleeding) occuring within the skull." [HPO:curators] |
Show
|
| HP:0002315 | Headache | "Cephalgia, or pain in the head originating from the cerebral vault." [HPO:curators] |
Show
|
| HP:0002616 | Aortic root dilatation | |
Show
|
| HP:0002750 | Delayed skeletal maturation | "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] |
Show
|
| HP:0002805 | Accelerated bone age after puberty | |
Show
|
| HP:0002900 | Hypokalemia | |
Show
|
| HP:0002902 | Hyponatremia | |
Show
|
| HP:0003115 | Abnormal EKG | |
Show
|
| HP:0003154 | Elevated plasma ACTH | |
Show
|
| HP:0003351 | Decreased renin | |
Show
|
| HP:0003623 | Onset in neonatal period | |
Show
|
| HP:0003674 | Age of onset | |
Show
|
| HP:0004319 | Decreased aldosterone production | |
Show
|
| HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
Show
|
| HP:0005616 | Accelerated skeletal maturation | "An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] |
Show
|
| HP:0007440 | Generalized hyperpigmentation | |
Show
|
| HP:0008163 | Plasma cortisol low | |
Show
|
| HP:0008185 | Precocious puberty in males | "The onset of puberty before the age of 9 years in boys." [HPO:curators] |
Show
|
| HP:0008221 | Enlarged adrenal glands | |
Show
|
| HP:0008258 | Congenital adrenal hyperplasia | |
Show
|
| HP:0008665 | Hypertrophic clitoris | |
Show
|
| HP:0008675 | Enlarged polycystic ovaries | |
Show
|
| HP:0008689 | Bilateral cryptorchidism | |
Show
|
| HP:0008726 | Hypoplastic vagina | "Underdevelopment of the vagina." [HPO:curators] |
Show
|
| HP:0008734 | Decreased testicular size | |
Show
|
| HP:0011105 | Hypervolemia | "An increase in the amount of intravascular fluid, particularly in the volume of the circulating blood." [HPO:probinson] |
Show
|
| HP:0011106 | Hypovolemia | "An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood." [HPO:probinson] |
Show
|
| HP:0011363 | Abnormality of hair growth rate | "Hair whose growth rate deviates from the norm." [DDD:cmoss] |
Show
|
| HP:0011410 | Caesarian section | |
Show
|
| HP:0011739 | Dexamethasone-suppresible primary hyperaldosteronism | "A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone." [DDD:spark, HPO:probinson] |
Show
|
| HP:0011742 | Ectopic adrenal gland | "Abnormal anatomical location of the adrenal gland." [DDD:spark] |
Show
|
| HP:0011746 | Secretory adrenocortical adenoma | "An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones." [DDD:spark] |
Show
|
| HP:0011749 | Adrenocorticotropic hormone excess | "Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex." [DDD:spark] |
Show
|
| HP:0011968 | Feeding difficulties | "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
Show
|
| HP:0012041 | Decreased fertility in males | |
Show
|
| HP:0012412 | Premature adrenarche | "Onset of adrenarche at an earlier age than usual." [HPO:probinson] |
Show
|
| HP:0012605 | Hypernatriuria | "An increased concentration of `sodium(1+)` (CHEBI:29101) in the `urine` (FMA:12274)." [Eurenomics:ewuehl] |
Show
|
| HP:0012881 | Abnormality of the labia majora | "An anomaly of the outer labia." [HPO:probinson] |
Show
|
| HP:0030014 | Female sexual dysfunction | |
Show
|
| HP:0030258 | Hyperpigmented genitalia | "Localized or generalized increased genital pigmentation." [] |
Show
|
| HP:0030348 | Increased circulating androgen level | "An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone." [HPO:probinson] |
Show
|
| HP:0040084 | Abnormal circulating renin | |
Show
|
| HP:0040085 | Abnormal circulating aldosterone | |
Show
|
| HP:0100602 | Preecplampsia | "Pregnancy-induced hypertension in association with significant amounts of protein in the urine." [HPO:sdoelken] |
Show
|
| HP:0100779 | Urogenital sinus anomaly | "A rare birth defect in women where the urethra and vagina both open into a common channel." [HPO:curators] |
Show
|
