| HPO |
HP:0430025 |
Bilateral facial palsy |
"Two-sided or bilateral weakness of the muscles of facial expression and eye closure." [ORCID:0000-0001-5889-4463] |
— |
HP:0010628 |
| HPO |
HP:0430026 |
Abnormality of the shape of the midface |
"An abnormal morphology (form) of the midface or its components, the cheeks, maxilla, zygomatic bone, malar region, and infraorbital rims." [ORCID:0000-0001-5889-4463] |
— |
HP:0000309, HP:0001999 |
| HPO |
HP:0430028 |
Hyperplasia of the maxilla |
"Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla." [] |
— |
HP:0000326 |
| HPO |
HP:0430029 |
Hyperplasia of the premaxilla |
"An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively large in size compared to the other parts of the maxilla or other facial structures." [ORCID:0000-0001-5889-4463] |
— |
HP:0010758 |
| HPO |
HP:0500001 |
Body odor |
"A perceived unpleasant smell given off by the body." [HPO:probinson] |
— |
HP:0025142 |
| HPO |
HP:0500005 |
Anal pain |
"Pain in and around the anus or rectum (perianal region)." [http://www.mayoclinic.org/symptoms/anal-pain/basics/definition/sym-20050918] |
— |
HP:0012531 |
| HPO |
HP:0500006 |
Urethritis |
"Inflammation of the urethra." [PMID:26220178] |
Urethritis is characterized by discharge, dysuria and/or urethral discomfort but may be asymptomatic. Common etiologies include gonococcal urethritis as well as infection by chlamydia trachomatis, mycoplasma genitalium, ureaplasma urealyticum, trichomonas vaginalis, anaerobes, herpes simplex virus, and adenovirus. |
HP:0000795 |
| HPO |
HP:0500007 |
Iris flocculi |
"Multiple cysts along the pupillary margin that appear as spherical or tear-drop-shaped pigmented lesions or wrinkled masses emerging from the pupillary border of the iris." [PMID:27843899, PMID:7575269] |
Iris flocculi cause little, if any, visual impairment in most cases. However, they are occasionally associated with dissecting aortic aneurysm due to a shared mutation in smooth muscle that affects both the iris and the aorta. {xref="PMID:27843899"} |
HP:0000525 |
| HPO |
HP:0500008 |
Cornea verticillata |
"Golden brown or gray deposits with a clockwise, whorl-like distribution in the inferior interpalpebal portion of the cornea." [HPO:probinson] |
Cornea verticillata can be a feature of Fabry disease and can occur as an adverse effect of mediciations including amiodarone. {xref="HPO:probinson"} |
HP:0000481 |
| HPO |
HP:0500009 |
Dysplastic gangliocytoma of the cerebellum |
"It is a rare, slowly growing tumor of the cerebellum, a gangliocytoma sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum." [PMID:11073535] |
Often associated with Cowden syndrome. {xref="PMID:11073535"} |
HP:0001317 |
| HPO |
HP:0500010 |
obsolete Increased cholesterol esters |
— |
— |
— |
| HPO |
HP:0500011 |
Moon facies |
"A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin." [HPO:probinson] |
Moon facies can occur in persons treated with high-dose corticosteroids or with Cushing disease. |
HP:0001999 |
| HPO |
HP:0500012 |
Abnormality of gonadotropin-releasing hormone level |
"A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone level secreted from the pituitary gland." [HPO:probinson] |
— |
HP:0003117 |
| HPO |
HP:0500013 |
Lack of gonadotropin-releasing hormone pulsatility |
"Secretion of gonadotropin-releasing hormone that does not occur in a pulsatile fashion." [HPO:probinson] |
The decapeptide gonadotropin-releasing hormone (GnRH) is the master hormone regulating reproduction. GnRH is released from some 1000 neurons within the hypothalamus in a pulsatile manner. Hypothalamic GnRH gene expression occurs intermittently (in a pulsatile fashion). The primary target of hypothalamic GnRH is the anterior pituitary gonadotrope, which responds to stimulation by increasing the synthesis and secretion of the gonadotropins luteinzing hormone (LH) and follicle stimulating hormone (FSH), which in turn regulate gonadal development and function. |
HP:0500012 |
| HPO |
HP:0500014 |
obsolete Abnormal test result |
— |
— |
— |
| HPO |
HP:0500015 |
Abnormal cardiac test |
"Abnormal test result of cardiovascular physiology." [] |
— |
HP:0001626 |
| HPO |
HP:0500016 |
Abnormal cardiac MRI |
"Abnormal results of a MRI for the heart." [] |
— |
HP:0500015 |
| HPO |
HP:0500017 |
Abnormal cardiac catheterization |
"Abnormal results from the diagnostic tests resulting from cardiac catheterization." [] |
— |
HP:0500015 |
| HPO |
HP:0500018 |
Abnormal cardiac exercise stress test |
"Abnormal results of exercise on heart function." [] |
— |
HP:0500015 |
| HPO |
HP:0500019 |
Abnormal resting energy expenditure from metabolic cart test |
"Resting energy expenditure (REE) can be measured with indirect calorimetry using a metabolic cart, which is used to measure the oxygen consumption (VO2) and carbon dioxide production (VCO2)." [http://emedicine.medscape.com/article/2009552-overview] |
— |
HP:0500015 |
| HPO |
HP:0500020 |
Abnormal cardiac biomarker test |
"Abnormal blood test results measuring creatine kinase (CK), CK-MB, troponin (TROPI), myoglobin, and/or cardiac enzymes." [https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=167&contentid=cardiac_biomarkers] |
— |
HP:0500015 |
| HPO |
HP:0500021 |
Reduced brain gamma-aminobutyric acid level by MRS |
"An decreased level of gamma-aminobutyric acid in the brain identified by magnetic resonance spectroscopy (MRS)." [ORCID:0000-0003-0169-8159, PMID:27388694] |
— |
HP:0012705 |
| HPO |
HP:0500022 |
Abnormal circulating dehydroepiandrosterone concentration |
"A deviation from the normal concentration of dehydroepiandrosterone in the circulation." [PMID:27979632] |
Dehydroepiandrosterone (DHEA), which is produced in the adrenal glands and the gonads, represents the most abundant circulating steroid hormone. It is a metabolic intermediate in the biosynthesis of the androgen and estrogen sex steroids. |
HP:0030347 |
| HPO |
HP:0500023 |
Shoulder muscle aplasia |
"Absence of shoulder muscles." [] |
— |
HP:0001464 |
| HPO |
HP:0500024 |
Aplasia of the musculature of the pelvis |
"Absence of the musculature of the pelvis." [] |
— |
HP:0001471 |