| 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] |
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| HP:0000028 | Cryptorchidism | "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators] |
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| HP:0000033 | Ambiguous genitalia, male | |
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| HP:0000037 | Male pseudohermaphroditism | "Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes." [HPO:curators] |
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| HP:0000047 | Hypospadias | "Displacement of the urethral opening on the ventral (inferior) surface of the penis." [HPO:curators] |
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| HP:0000048 | Bifid scrotum | "Separation of the two halves of the scrotum, whereby commonly the 2 halves of the scrotum meet above the penis." [HPO:curators] |
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| HP:0000051 | Perineal hypospadias | |
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| HP:0000054 | Micropenis | |
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| HP:0000061 | Ambiguous genitalia, female | |
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| HP:0000062 | Ambiguous genitalia | |
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| HP:0000127 | Renal salt wasting | |
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| HP:0000140 | Menstrual abnormalities | |
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| HP:0000771 | Gynecomastia | |
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| HP:0000823 | Delayed puberty | |
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| HP:0000833 | Glucose intolerance | |
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| HP:0000840 | Adrenogenital syndrome | |
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| HP:0000848 | Increased plasma renin | |
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| HP:0000855 | Insulin resistance | |
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| HP:0000868 | Decreased fertility in females | |
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| 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] |
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| HP:0001007 | Hirsutism | "Abnormally increased hair growth." [HPO:curators] |
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| HP:0001061 | Acne | |
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| HP:0001941 | Acidosis | |
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| HP:0001944 | Dehydration | |
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| HP:0001998 | Neonatal hypoglycemia | |
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| HP:0002013 | Vomiting | |
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| HP:0002153 | Hyperkalemia | |
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| HP:0002615 | Hypotension | |
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| 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] |
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| HP:0002902 | Hyponatremia | |
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| HP:0003154 | Elevated plasma ACTH | |
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| HP:0004319 | Decreased aldosterone production | |
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| HP:0004924 | abnormal oral glucose tolerance | |
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| 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] |
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| HP:0007440 | Generalized hyperpigmentation | |
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| HP:0008163 | Plasma cortisol low | |
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| HP:0008187 | Absence of secondary sex characteristics | |
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| HP:0008221 | Enlarged adrenal glands | |
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| HP:0008226 | Androgen insufficiency | |
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| HP:0008232 | Elevated follicle stimulating hormone | |
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| HP:0008258 | Congenital adrenal hyperplasia | |
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| HP:0008665 | Hypertrophic clitoris | |
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| HP:0008675 | Enlarged polycystic ovaries | |
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| HP:0008707 | Abnormal or absent scrotum | |
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| HP:0008730 | Female external genitalia in males | "The presence of female external genitalia in a person with a male karyotype." [HPO:curators] |
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| HP:0008734 | Decreased testicular size | |
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| HP:0011106 | Hypovolemia | "An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood." [HPO:probinson] |
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| HP:0011742 | Ectopic adrenal gland | "Abnormal anatomical location of the adrenal gland." [DDD:spark] |
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| HP:0011749 | Adrenocorticotropic hormone excess | "Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex." [DDD:spark] |
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| HP:0011968 | Feeding difficulties | "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
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| HP:0011969 | Elevated luteinizing hormone | "An elevated concentration of luteinizing hormone in the blood." [HPO:probinson] |
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| HP:0012041 | Decreased fertility in males | |
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| HP:0012244 | Abnormal sex determination | "Anomaly of primary or secondary sexual development or characteristics." [HPO:probinson, MP:0002210] |
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| HP:0012411 | Premature pubarche | "The onset of growth of pubic hair at an earlier age than normal." [HPO:probinson] |
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| HP:0012412 | Premature adrenarche | "Onset of adrenarche at an earlier age than usual." [HPO:probinson] |
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| HP:0012605 | Hypernatriuria | "An increased concentration of `sodium(1+)` (CHEBI:29101) in the `urine` (FMA:12274)." [Eurenomics:ewuehl] |
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| HP:0012881 | Abnormality of the labia majora | "An anomaly of the outer labia." [HPO:probinson] |
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| HP:0030258 | Hyperpigmented genitalia | "Localized or generalized increased genital pigmentation." [] |
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| HP:0100779 | Urogenital sinus anomaly | "A rare birth defect in women where the urethra and vagina both open into a common channel." [HPO:curators] |
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