| HPO |
HP:0002414 |
Spina bifida |
"Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele." [HPO:probinson] |
— |
HP:0010301 |
| HPO |
HP:0002575 |
Tracheoesophageal fistula |
"An abnormal connection (fistula) between the esophagus and the trachea." [HPO:probinson] |
— |
HP:0002031, HP:0002778 |
| HPO |
HP:0001537 |
Umbilical hernia |
"Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [HPO:probinson] |
— |
HP:0001551, HP:0004299 |
| HPO |
HP:0003022 |
Hypoplasia of the ulna |
"Underdevelopment of the ulna." [HPO:curators] |
— |
HP:0006495, HP:0009821, HP:0040071 |
| HPO |
HP:0002823 |
Abnormality of femur morphology |
"Any anomaly of the structure of the femur." [HPO:probinson] |
The femur (plural: femora) is the thigh bone. |
HP:0040069 |
| HPO |
HP:0006501 |
Aplasia/Hypoplasia of the radius |
"A small/hypoplastic or absent/aplastic radius." [HPO:probinson] |
— |
HP:0002818, HP:0006503 |
| 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: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:0004349 |
Reduced bone mineral density |
"A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones." [HPO:sdoelken] |
— |
HP:0004348 |
| HPO |
HP:0005522 |
Pyridoxine-responsive sideroblastic anemia |
"A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment." [HPO:probinson] |
— |
HP:0001924 |
| HPO |
HP:0010293 |
Aplasia/Hypoplasia of the uvula |
"Underdevelopment or absence of the uvula." [HPO:curators] |
— |
HP:0000172 |
| HPO |
HP:0010469 |
Absent testis |
"Testis not palpable in the scrotum or inguinal canal." [HPO:probinson, PMID:23650202] |
Absence can be congenital or not (vanishing testis). Definitive assessment can only be made by imaging or surgical studies, in order to exclude an intra-abdominal testis, which should be coded as Cryptorchidism. True absence of a testis can be difficult to prove. Anorchia is true absence of both testes, and can only be determined by imaging or surgical studies. |
HP:0010468 |
| HPO |
HP:0006265 |
Aplasia/Hypoplasia of fingers |
"Small/hypoplastic or absent/aplastic fingers." [HPO:curators] |
— |
HP:0001167, HP:0005927 |
| HPO |
HP:0012041 |
Decreased fertility in males |
— |
— |
HP:0000144 |
| HPO |
HP:0000486 |
Strabismus |
"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error." [HPO:probinson, PMID:26319345, UManchester:psergouniotis] |
— |
HP:0000549 |
| HPO |
HP:0001392 |
Abnormality of the liver |
"An abnormality of the liver." [HPO:probinson] |
— |
HP:0002012 |
| HPO |
HP:0000483 |
Astigmatism |
"A type of astigmatism associated with abnormal curvatures on the anterior and/or posterior surface of the cornea." [DDD:ncarter, HPO:probinson, ORCID:0000-0003-0986-4123] |
The irregular curvature associated with astigmatism means that the optical system is not symmetric about the optical axis. Most commonly the cornea is affected such that the refractive power in one meridian is less than that of the perpendicular axis. Astigmatism of significant degree causes blurry vision. |
HP:0000539, HP:0100691 |
| HPO |
HP:0000218 |
High palate |
"Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [PMID:19125428] |
The measuring device for this assessment is described in (Hall JG, Froster-Iskenius UG, Allanson JE, Gripp K, Slavotinek A. 2006. Handbook of Normal Physical Measurements. 2nd edition. Oxford Medical, publishers). A high palate is often associated with a narrow palate. However, a narrow palate can easily give a false appearance of a high palate. Height and width of the palate should be assessed and coded separately. We do not recommend the subjective determination because this term can be overused and\napplied inaccurately. |
HP:0000174 |
| HPO |
HP:0000453 |
Choanal atresia |
"Absence or abnormal closure of the choana (the posterior nasal aperture)." [HPO:probinson] |
— |
HP:0000415 |
| HPO |
HP:0001824 |
Weight loss |
"Reduction of total body weight." [HPO:probinson] |
— |
HP:0004325 |
| HPO |
HP:0002863 |
Myelodysplasia |
"Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia." [HPO:probinson] |
— |
HP:0004377 |
| HPO |
HP:0012745 |
Short palpebral fissure |
"Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures." [PMID:19125427] |
— |
HP:0200007 |
| HPO |
HP:0007874 |
Almond-shaped palpebral fissure |
"A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point." [PMID:19125427] |
The almond configuration tends to dissipate with time, as the surrounding tissues (e.g., eyelid, nasal bridge) grow. |
HP:0200005 |
| 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:0004322 |
Short stature |
"A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
— |
HP:0000002, HP:0001510 |