| 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:0040119 |
Unilateral conductive hearing impairment |
— |
— |
HP:0000405 |
| HPO |
HP:0001528 |
Hemihypertrophy |
"Overgrowth of only one side of the body." [HPO:probinson] |
— |
HP:0040064, HP:0100555 |
| HPO |
HP:0009110 |
Diaphragmatic eventration |
"A congenital failure of muscular development of part or all of one or both hemidiaphragms, resulting in superior displacement of abdominal viscera and altered lung development." [HPO:curators] |
— |
HP:0000775 |
| HPO |
HP:0002033 |
Poor suck |
"An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed." [HPO:pnrobinson] |
— |
HP:0008872 |
| HPO |
HP:0001508 |
Failure to thrive |
"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm." [HPO:probinson] |
Although there is no clear consensus on the exact definition of FTT, it is usually diagnoses in a child growing below the 3rd percentile or in a child whose decreased growth has cross two major growth percentiles (for example, from above the 75th percentile to below the 25th percentile). |
HP:0004325 |
| HPO |
HP:0002904 |
Hyperbilirubinemia |
"An increased amount of bilirubin in the blood." [HPO:probinson] |
— |
HP:0033479 |
| 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:0000407 |
Sensorineural hearing impairment |
"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve." [HPO:probinson] |
Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII, also known as the cochlear nerve). |
HP:0000365, HP:0011389 |
| HPO |
HP:0100957 |
Abnormal renal medulla morphology |
"Any structural abnormality of the medulla of the kidney." [HPO:probinson, PMID:22343825] |
The renal pyramids of the adult kidney resemble a cone with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. The adult renal medulla is made up of 10-18 pyramids. A pyramid consists of the medullary collecting ducts, loops of Henle, vasa recta (straight capillaries) and the interstitium. The main function of the medulla is to regulate concentration of the urine. The urine flows from the collecting ducts into the renal calyces and pelvis. |
HP:0012210 |
| HPO |
HP:0000347 |
Micrognathia |
"Developmental hypoplasia of the mandible." [HPO:probinson] |
Mandibular hypoplasia, also known as micrognathia, is a term that describes an abnormally small lower jaw. |
HP:0009118 |
| HPO |
HP:0001252 |
Hypotonia |
"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist." [HPO:probinson, PMID:21418198] |
Hypotonia can be caused by abnormalities of the central nervous system, any element of the motor unit (including the lower motoneuron), or both. Hypotonia is not a specific diagnosis, but can be observed in hundreds of genetic and other diseases. The first distinction to make when assessing a child with hypotonia is whether decreased muscle tone is a result of an abnormality of the central nervous system (CNS), peripheral neuromuscular system, or a combined abnormality involving both. Clinical findings suggestive of an abnormality of the CNS may include hyperreflexia, cognitive developmental delay, and seizures. In contrast, physical findings pointing towards a neuromuscular origin may include weakness, lack of antigravity movements, muscle atrophy, fasciculations, and/or diminished reflexes, most often in the context of normal cognitive function. The HPO term does not distinguish between these etiologies. Additional HPO terms should be used as required to describe associated features. |
HP:0003808 |
| HPO |
HP:0012582 |
Bilateral renal dysplasia |
"A bilateral form of developmental dysplasia of the kidney." [HPO:probinson] |
— |
HP:0000110 |
| HPO |
HP:0000358 |
Posteriorly rotated ears |
"A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front)." [HPO:probinson, PMID:19152421] |
Angle formed by the line perpendicular to the Frankfurt plane and the medial longitudinal axis of the ear (the two most remote points of the ear) greater than two standard deviations above the mean for age. |
HP:0000357 |
| HPO |
HP:0001770 |
Toe syndactyly |
"Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \"Symphalangism\"." [HPO:curators] |
— |
HP:0001159, HP:0001780 |
| HPO |
HP:0001433 |
Hepatosplenomegaly |
"Simultaneous enlargement of the liver and spleen." [HPO:probinson] |
— |
HP:0003271, HP:0025408, HP:0410042 |
| HPO |
HP:0012584 |
Bilateral renal hypoplasia |
"Two sided hypoplasia of the kidney." [Eurenomics:fschaefer] |
— |
HP:0000089 |
| HPO |
HP:0000448 |
Prominent nose |
"Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip." [PMID:19152422] |
— |
HP:0005105 |
| HPO |
HP:0001601 |
Laryngomalacia |
"Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration." [HPO:probinson] |
Laryngomalacia may affect the epiglottis, the arytenoid cartilages, or both. It is the most common cause of congenital stridor. |
HP:0025423 |
| HPO |
HP:0001891 |
Iron deficiency anemia |
— |
— |
HP:0001931 |
| HPO |
HP:0002092 |
Pulmonary arterial hypertension |
"Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position." [HPO:probinson] |
Pulmonary hypertension can be secondary to known cardiac, pulmonary, or hepatic disease. If no cause is identifiable, the term primary pulmonary hypertension is used. |
HP:0033578 |
| HPO |
HP:0005599 |
Hypopigmentation of hair |
— |
— |
HP:0009887 |
| 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 |
| HPO |
HP:0002857 |
Genu valgum |
"The legs angle inward, such that the knees are close together and the ankles far apart." [HPO:probinson] |
— |
HP:0002815, HP:0002979 |
| HPO |
HP:0000319 |
Smooth philtrum |
"Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border." [PMID:19152422] |
There is a spectrum of this finding from total absence of the philtral ridges to a some prominence of the ridges. The central groove varies from absent to shallow. Normal values for the frequency of smooth philtrum are available. Grading of the smoothness of the philtrum, used in the assessment of Fetal Alcohol Syndrome, has been developed. This finding is greatly influenced by the facial expression, and care should be taken to evaluate the philtrum when the face is in a neutral position. A smooth philtrum can be associated with a Long philtrum. However, the two findings should be coded separately. |
HP:0000288 |