| 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: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:0000771 |
Gynecomastia |
"Abnormal development of large mammary glands in males resulting in breast enlargement." [HPO:probinson] |
— |
HP:0031093 |
| HPO |
HP:0008734 |
Decreased testicular size |
"Reduced volume of the testicle (the male gonad)." [HPO:probinson] |
— |
HP:0000050, HP:0010468 |
| HPO |
HP:0000789 |
Infertility |
— |
— |
HP:0000144 |
| HPO |
HP:0000786 |
Primary amenorrhea |
— |
— |
HP:0000141 |
| HPO |
HP:0000044 |
Hypogonadotropic hypogonadism |
"Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH)." [HPO:probinson, PMID:23503957] |
— |
HP:0000135 |
| HPO |
HP:0002225 |
Sparse pubic hair |
"Reduced number or density of pubic hair." [HPO:probinson] |
— |
HP:0008070, HP:0100133 |
| 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:0002215 |
Sparse axillary hair |
"Reduced number or density of axillary hair." [HPO:probinson] |
— |
HP:0008070, HP:0100134 |
| HPO |
HP:0010628 |
Facial palsy |
"Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form." [HPO:sdoelken] |
Several conditions can cause a facial paralysis, e.g. brain tumor, stroke, and Lyme disease. However, if no specific cause can be identified, the condition is known as Bell's palsy. Named after Scottish anatomist Charles Bell, who first described it. Bell's palsy is the most common acute mononeuropathy (disease involving only one nerve) and is the most common cause of acute facial nerve paralysis. |
HP:0001324, HP:0006824, HP:0010827, HP:0030319 |
| HPO |
HP:0002901 |
Hypocalcemia |
"An abnormally decreased calcium concentration in the blood." [HPO:curators] |
— |
HP:0004363 |
| HPO |
HP:0008897 |
Postnatal growth retardation |
"Slow or limited growth after birth." [DDD:hfirth] |
— |
HP:0001510 |
| HPO |
HP:0002937 |
Hemivertebrae |
"Absence of one half of the vertebral body." [HPO:probinson] |
Lateral hemivertebrae represent a developmental defect resulting from the failure of the contralateral chondral center to develop. Dorsal hemivertebrae result from a developmental defect in which the anterior chondral centers fail to develop, and ventral hemivertebrae result from failure of the posterior centers to ossify. The affected half of the vertebral body may by hypoplastic or absent, as is the pedicle, and (for thoracic vetebrae) the corresponding rib. The affected half of the vertebral body may also show a fusion or segmentation defect. |
HP:0003312, HP:0003422 |
| HPO |
HP:0008213 |
Gonadotropin deficiency |
"A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH)." [DDD:spark] |
— |
HP:0000830 |
| HPO |
HP:0000480 |
Retinal coloboma |
"A notch or cleft of the retina." [HPO:probinson] |
— |
HP:0000479, HP:0000589 |
| 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:0000568 |
Microphthalmia |
"A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:probinson] |
— |
HP:0008056, HP:0100887 |
| HPO |
HP:0000508 |
Ptosis |
"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective)." [PMID:19125427] |
— |
HP:0012373 |
| HPO |
HP:0000066 |
Labial hypoplasia |
— |
— |
HP:0000058, HP:0012815 |
| HPO |
HP:0002650 |
Scoliosis |
"The presence of an abnormal lateral curvature of the spine." [HPO:probinson] |
— |
HP:0010674 |
| HPO |
HP:0000378 |
Cupped ear |
"Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura)." [HPO:probinson, PMID:19162421, PMID:22073081] |
— |
HP:0000377 |
| HPO |
HP:0003745 |
Sporadic |
"Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected." [HPO:probinson] |
— |
HP:0000005 |
| HPO |
HP:0000104 |
Renal agenesis |
"Agenesis, that is, failure of the kidney to develop during embryogenesis and development." [HPO:probinson] |
Renal agenesis can occur as a unilateral or bilateral trait. |
HP:0008678 |
| HPO |
HP:0000494 |
Downslanted palpebral fissures |
"The palpebral fissure inclination is more than two standard deviations below the mean." [PMID:19125427] |
— |
HP:0200006 |