| HPO |
HP:0000001 |
All |
— |
Root of all terms in the Human Phenotype Ontology. |
— |
| HPO |
HP:0000002 |
Abnormality of body height |
"Deviation from the norm of height with respect to that which is expected according to age and gender norms." [HPO:probinson] |
— |
HP:0001507 |
| HPO |
HP:0000003 |
Multicystic kidney dysplasia |
"Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional." [HPO:curators] |
Multicystic kidney dysplasia is the result of abnormal fetal renal development in which the affected kidney is replaced by multiple cysts and has little or no residual function. The vast majority of multicystic kidneys are unilateral. Multicystic kidney can be diagnosed on prenatal ultrasound. |
HP:0000107 |
| HPO |
HP:0000005 |
Mode of inheritance |
"The pattern in which a particular genetic trait or disorder is passed from one generation to the next." [HPO:probinson] |
— |
HP:0000001 |
| HPO |
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] |
— |
HP:0000005 |
| HPO |
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:probinson] |
— |
HP:0000005 |
| HPO |
HP:0000008 |
Abnormal morphology of female internal genitalia |
"An abnormality of the female internal genitalia." [HPO:probinson] |
— |
HP:0000812, HP:0010460 |
| HPO |
HP:0000009 |
Functional abnormality of the bladder |
"Dysfunction of the urinary bladder." [HPO:probinson] |
— |
HP:0000014 |
| HPO |
HP:0000010 |
Recurrent urinary tract infections |
"Repeated infections of the urinary tract." [HPO:probinson] |
The urinary tract comprises the kidneys, ureters, a bladder, and a urethra. |
HP:0002719, HP:0011277 |
| HPO |
HP:0000011 |
Neurogenic bladder |
"A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention." [HPO:probinson, PMID:18095004, PMID:22400020] |
Neurogenic bladder sphincter dysfunction (NBSD) can develop as a result of a lesion at any level in the nervous system, including the cerebral cortex, spinal cord, or peripheral nervous system. Neurologic conditions in children leading to neurogenic bladder dysfunction are predominantly congenital neural tube defects (including myelomeningocele, lipomeningocele, sacral agenesis, and occult lesions causing tethered cord). Acquired causes such as spinal cord tumors or trauma or sequelae of transverse myelitis are less frequent. Whereas from an etiologic standpoint neurogenic bladder dysfunction is a heterogeneous group, medical management will be similar irrespective of the underlying cause. |
HP:0000009 |
| HPO |
HP:0000012 |
Urinary urgency |
"Urge incontinence is the strong, sudden need to urinate." [HPO:probinson, PMID:12559262] |
Urinary urgency is the strong, sudden need to urinate and is usually due to bladder spasms or contractions. This symptom is suggestive of, but not necessarily conclusive for urodynamically demonstrable detrusor hyperactivity. |
HP:0000009 |
| HPO |
HP:0000013 |
Hypoplasia of the uterus |
"Underdevelopment of the uterus." [HPO:probinson] |
— |
HP:0008684 |
| HPO |
HP:0000014 |
Abnormality of the bladder |
"An abnormality of the urinary bladder." [HPO:probinson] |
— |
HP:0010936 |
| HPO |
HP:0000015 |
Bladder diverticulum |
"Diverticulum (sac or pouch) in the wall of the urinary bladder." [HPO:probinson] |
— |
HP:0025487 |
| HPO |
HP:0000016 |
Urinary retention |
"Inability to completely empty the urinary bladder during the process of urination." [HPO:probinson] |
Urinary retention is the inability of the urinary bladder to empty. The cause may be neurologic or nonneurologic. |
HP:0000009 |
| HPO |
HP:0000017 |
Nocturia |
"Abnormally increased production of urine during the night leading to an unusually frequent need to urinate." [HPO:sdoelken] |
Often occuring as a result of heart insufficiency. |
HP:0000009 |
| HPO |
HP:0000019 |
Urinary hesitancy |
"Difficulty in beginning the process of urination." [HPO:probinson] |
— |
HP:0000009 |
| HPO |
HP:0000020 |
Urinary incontinence |
"Loss of the ability to control the urinary bladder leading to involuntary urination." [HPO:sdoelken, PMID:12559262] |
Urinary incontinence can be defined as the complaint of any involuntary leakage of urine. |
HP:0000009, HP:0031064 |
| HPO |
HP:0000021 |
Megacystis |
"Dilatation of the bladder postnatally." [HPO:probinson] |
— |
HP:0010955 |
| HPO |
HP:0000022 |
Abnormality of male internal genitalia |
"An abnormality of the male internal genitalia." [HPO:probinson] |
The internal genital structures of the male including the testis, epididymis, vas deferens, seminal vesicle, ejaculatory duct, bulbourethral gland, and the prostate. |
HP:0000812, HP:0010461 |
| HPO |
HP:0000023 |
Inguinal hernia |
"Protrusion of the contents of the abdominal cavity through the inguinal canal." [HPO:probinson] |
Inguinal hernia appears as a bulge in the groin. |
HP:0004299 |
| HPO |
HP:0000024 |
Prostatitis |
"The presence of inflammation of the prostate." [HPO:probinson] |
— |
HP:0008775, HP:0012649 |
| HPO |
HP:0000025 |
Functional abnormality of male internal genitalia |
— |
— |
HP:0012874 |
| HPO |
HP:0000026 |
Male hypogonadism |
"Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis." [HPO:probinson] |
— |
HP:0000025, HP:0000135 |
| HPO |
HP:0000027 |
Azoospermia |
"Absence of any measurable level of sperm in his semen." [HPO:probinson, PMID:20514278] |
— |
HP:0008669 |