| HPO |
HP:0001636 |
Tetralogy of Fallot |
"A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present." [HPO:probinson] |
— |
HP:0001710 |
| HPO |
HP:0000337 |
Broad forehead |
"Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead." [PMID:19125436] |
Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow. Note that this term should not be confused with prominent forehead. |
HP:0000290 |
| HPO |
HP:0000028 |
Cryptorchidism |
"Testis in inguinal canal. That is, 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 scrotum." [HPO:probinson, PMID:23650202] |
The gonad is mobile and can be retracted superiorly by the cremaster muscle reflex stimulated, for instance, by cold or touch. A retracted testis is not cryptorchidism. An abdominal testis cannot be distinguished by physical examination from an (Apparently) absent testis and requires radiological (or, rarely, surgical) procedures for assessment. |
HP:0000035 |
| HPO |
HP:0001511 |
Intrauterine growth retardation |
"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age." [HPO:probinson] |
Intrauterine growth restriction is a newer term that is preferred over Intrauterine growth retardation. The causes of IUGR include maternal abnormalities (chronic hypertension, cyanotic heart disease, smoking, drug abuse), placental or umbilical cord abnormalities (including placenta previa and cord anomalies), maternal medicationas, and genetic disorders of the fetus. |
HP:0001510 |
| HPO |
HP:0004209 |
Clinodactyly of the 5th finger |
"Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger)." [HPO:curators, PMID:16252026] |
Minor degrees of curvature of the small finger are so common as to be considered normal. |
HP:0009179, HP:0040019 |
| HPO |
HP:0000520 |
Proptosis |
"An eye that is protruding anterior to the plane of the face to a greater extent than is typical." [HPO:sdoelken, PMID:19125427] |
Some sources define "exophthalmos" as a protrusion of the globe greater than 18 mm and "proptosis" as a protusion equal to or less than 18 mm. Others define "exophthalmos" as protusion secondary to endocrine dysfunction and "proptosis" as any non-endocrine-mediated protusion (Source: Wikipedia). This finding should be distinguished frm underdevelopment of the supraorbital ridge or maxilla/zygoma. In proptosis, the globe is anteriorly protuberant to the overall plane of the face. |
HP:0100886 |
| HPO |
HP:0001156 |
Brachydactyly |
"Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here." [HPO:probinson] |
— |
HP:0011927 |
| HPO |
HP:0005105 |
Abnormal nasal morphology |
— |
This is a category for overall abnormal morphology that may be replaced later with more exact descriptions. |
HP:0000366 |
| HPO |
HP:0100779 |
Urogenital sinus anomaly |
"A rare birth defect in women where the urethra and vagina both open into a common channel." [HPO:curators] |
— |
HP:0000142, HP:0000795 |
| HPO |
HP:0003251 |
Male infertility |
— |
— |
HP:0000789, HP:0012041 |
| HPO |
HP:0000027 |
Azoospermia |
"Absence of any measurable level of sperm in his semen." [HPO:probinson, PMID:20514278] |
— |
HP:0008669 |
| HPO |
HP:0002225 |
Sparse pubic hair |
"Reduced number or density of pubic hair." [HPO:probinson] |
— |
HP:0008070, HP:0100133 |
| HPO |
HP:0000047 |
Hypospadias |
"Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum." [HPO:probinson, PMID:21968448] |
— |
HP:0100627 |
| HPO |
HP:0000149 |
Ovarian gonadoblastoma |
"The presence of a gonadoblastoma of the ovary." [eMedicine:986581, HPO:probinson] |
Gonadoblastoma is a rare benign tumor that has the potential for malignant transformation and affects a subset of patients with an intersex disorder or disorder of sex development. |
HP:0000150, HP:0100615 |
| HPO |
HP:0000771 |
Gynecomastia |
"Abnormal development of large mammary glands in males resulting in breast enlargement." [HPO:probinson] |
— |
HP:0031093 |
| HPO |
HP:0000133 |
Gonadal dysgenesis |
— |
— |
HP:0000812 |
| HPO |
HP:0012244 |
Abnormal sex determination |
"Anomaly of primary or secondary sexual development or characteristics." [HPO:probinson, MP:0002210] |
— |
HP:0012243 |
| HPO |
HP:0008232 |
Elevated circulating follicle stimulating hormone level |
"An elevated concentration of follicle-stimulating hormone in the blood." [HPO:probinson] |
— |
HP:0000837, HP:0030346 |
| HPO |
HP:0000045 |
Abnormality of the scrotum |
— |
— |
HP:0000032 |
| HPO |
HP:0000100 |
Nephrotic syndrome |
"Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia." [HPO:probinson] |
In adults, nephrotic syndrome is characterized by protein excretion of 3.5 g or more per day. In children, nephrotic syndrome is accompanied by protein excretion of more than 40 mg/m2/h and hypalbuminemia < 2.5 mg/dl. |
HP:0012211 |
| HPO |
HP:0040171 |
Decreased serum testosterone concentration |
— |
— |
HP:0030087, HP:0030349 |
| HPO |
HP:0000815 |
Hypergonadotropic hypogonadism |
"Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay." [HPO:curators] |
— |
HP:0000135 |
| HPO |
HP:0008665 |
Clitoral hypertrophy |
"Hypertrophy of the clitoris." [HPO:probinson] |
Increased size of the clitoris. |
HP:0040253 |
| HPO |
HP:0000028 |
Cryptorchidism |
"Testis in inguinal canal. That is, 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 scrotum." [HPO:probinson, PMID:23650202] |
The gonad is mobile and can be retracted superiorly by the cremaster muscle reflex stimulated, for instance, by cold or touch. A retracted testis is not cryptorchidism. An abdominal testis cannot be distinguished by physical examination from an (Apparently) absent testis and requires radiological (or, rarely, surgical) procedures for assessment. |
HP:0000035 |
| HPO |
HP:0000062 |
Ambiguous genitalia |
"A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4." [HPO:probinson, PMID:15102623] |
Note that this term can include or combine variations in size and shape, with partial or complete absence of structures. It is preferable to describe the individual components, which are defined below. It is nonetheless a widely used bundled term and as such is retained here. The distinction of this finding from a marked degree of Hypospadias is an example of how this term can be problematic. Genetic gender is determined at fertilization, whereby the presence of a Y chromosome determines male gender. Normally, genetic gender determines gonadal gender which in turn determines phenotypic gender. Testicular development is an active process requiring expression of the primary testis determining gene SRY, which is located on the Y chromosome. |
HP:0000811 |