| HPO |
HP:0008730 |
Female external genitalia in individual with 46,XY karyotype |
"The presence of female external genitalia in a person with a male karyotype." [HPO:probinson] |
— |
HP:0000032 |
| HPO |
HP:0030680 |
Abnormality of cardiovascular system morphology |
"Any structural anomaly of the heart and great vessels." [] |
— |
HP:0001626 |
| HPO |
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] |
— |
HP:0000927 |
| HPO |
HP:0000054 |
Micropenis |
"Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm." [HPO:probinson, PMID:15102623] |
— |
HP:0008736 |
| HPO |
HP:0008214 |
Decreased serum estradiol |
"A reduction below normal concentration of estradiol in the circulation." [] |
— |
HP:0025133 |
| HPO |
HP:0008734 |
Decreased testicular size |
"Reduced volume of the testicle (the male gonad)." [HPO:probinson] |
— |
HP:0000050, HP:0010468 |
| HPO |
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 criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD)." [HPO:probinson, PMID:28293453] |
Osteoporosis is a disease that is characterized by low bone mass, deterioration of bone tissue, and disruption of bone microarchitecture: it can lead to compromised bone strength and an increase in the risk of fractures. |
HP:0004349 |
| HPO |
HP:0008193 |
Primary gonadal insufficiency |
— |
— |
HP:0008373 |
| HPO |
HP:0000868 |
Decreased fertility in females |
— |
— |
HP:0000144 |
| HPO |
HP:0000030 |
Testicular gonadoblastoma |
"The presence of a gonadoblastoma of the testis." [HPO:probinson] |
— |
HP:0000150, HP:0010788 |
| HPO |
HP:0008187 |
Absence of secondary sex characteristics |
"No secondary sexual characteristics are present at puberty." [HPO:probinson] |
— |
HP:0008373 |
| HPO |
HP:0000823 |
Delayed puberty |
"Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty." [HPO:probinson] |
The age at which delayed puberty may be diagnosed in a person without signs of secondary sexual development is 13 years in a girl or 14 years in a boy. |
HP:0001510, HP:0008373 |
| HPO |
HP:0002667 |
Nephroblastoma |
"The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children." [HPO:probinson] |
Nephroblastoma is characterized by an abnormal proliferation of the metanephric blastema cells, which are believed to be primitive embryologic cells of the kidney. Clinically, nephroblatoma usually presents as an abdominal mass, and in some cases with abdominal pain, hypertension, hematuria, and fever. |
HP:0011794 |
| HPO |
HP:0000058 |
Abnormal labia morphology |
"An anomaly of the labia, the externally visible portions of the vulva." [HPO:probinson] |
— |
HP:0000055 |
| HPO |
HP:0010464 |
Streak ovary |
"A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells." [HPO:probinson] |
— |
HP:0008724 |
| HPO |
HP:0000846 |
Adrenal insufficiency |
"Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands." [HPO:probinson, PMID:11443143] |
Adrenal insufficiency may cause persistent vomiting, anorexia, hypoglycemia, poor weight gain in a child, or unexplained weight loss in an adult, malaise, fatigue, muscular weakness, unexplained isotonic or hyponatremic dehydration, hyperkalemia, hypotension, hypoglycemia and especially generalized hyperpigmentation. |
HP:0011733 |
| HPO |
HP:0002215 |
Sparse axillary hair |
"Reduced number or density of axillary hair." [HPO:probinson] |
— |
HP:0008070, HP:0100134 |
| HPO |
HP:0012870 |
Vanishing testis |
"A condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis. In the presence of spermatic cord structures is evidence of the presence of the testis in early intrauterine life. When associated with a blind-ending spermatic cord, this entity is named as his absence of a testis in an otherwise normal 46XY male is usually unilateral and is assumed to be a consequence of intrauterine or perinatal torsion or infarction." [HPO:probinson, PMID:22985611] |
— |
HP:0000035 |
| HPO |
HP:0000786 |
Primary amenorrhea |
— |
— |
HP:0000141 |
| HPO |
HP:0008726 |
Hypoplasia of the vagina |
"Developmental hypoplasia of the vagina." [HPO:probinson] |
— |
HP:0011026 |
| HPO |
HP:0011969 |
Elevated circulating luteinizing hormone level |
"An elevated concentration of luteinizing hormone in the blood." [HPO:probinson] |
— |
HP:0000837, HP:0030345 |
| OMIM |
OMIM:610187 |
DIAPHRAGMATIC HERNIA 3; DIH3 |
— |
— |
— |
| OMIM |
OMIM:187500 |
TETRALOGY OF FALLOT; TOF |
— |
— |
— |
| OMIM |
OMIM:616067 |
46,XY SEX REVERSAL 9; SRXY9 |
— |
— |
— |