| HPO |
HP:0001649 |
Tachycardia |
"A rapid heartrate that exceeds the range of the normal resting heartrate for age." [HPO:probinson] |
— |
HP:0004308 |
| HPO |
HP:0001263 |
Global developmental delay |
"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age." [DDD:hvfirth, HPO:sdoelken] |
Developmental retardation is any significant lag in development in the any or all of the physical, cognitive, behavioral, emotional, or social spheres. Note that the term intellectual disability (mental retardation) refers to not merely a delay in development but rather a permanent limitation. Note that the term 'psychomotor retardation' is also used in some contexts to refer to a slowing of thought and physical movements as a result of major depression or intoxication. |
HP:0012758 |
| HPO |
HP:0000463 |
Anteverted nares |
"Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip)." [PMID:19152422] |
The tip of the nose is upturned and is positioned superiorly to the nasal base, allowing the nares to be easily visualized from the front. With maturation and growth of the nasal ridge and tip, the nares usually become more downwardly directed. |
HP:0000429, HP:0005105, HP:0005288 |
| 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:0011035 |
Abnormal renal cortex morphology |
"An abnormality of the cortex of the kidney." [HPO:probinson] |
— |
HP:0012210 |
| HPO |
HP:0000154 |
Wide mouth |
"Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective)." [PMID:19125428] |
The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces macrostomia, large mouth, and large oral aperture because these terms imply a wide and open mouth. The term should not be used to describe a patient with a lateral oral cleft. |
HP:0011337 |
| HPO |
HP:0001605 |
Vocal cord paralysis |
"A loss of the ability to move the vocal folds." [HPO:probinson] |
Vocal cord paralysis may lead to signs and symptoms such as hoarseness, inability to speak loudly, choking or coughing while eating with the risk of aspiration pneumonia. Affected patients may also experience breathing difficulties. |
HP:0003470, HP:0031801 |
| HPO |
HP:0000426 |
Prominent nasal bridge |
"Anterior positioning of the nasal root in comparison to the usual positioning for age." [PMID:19152422] |
A prominent nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed separately. The nasal bridge becomes more prominent with age. Although the nasal root may be anteriorly placed without increasing the space between the eyes, prominence of the nasal bridge may be accompanied by Telecanthus or ocular Hypertelorism. If such findings are present these should be coded separately. Deep-set eyes may lead to the impression of a prominent nasal bridge, but this finding should be coded separately. |
HP:0000422 |
| HPO |
HP:0000512 |
Abnormal electroretinogram |
"Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography." [HPO:probinson] |
The electrical responses of the photoreceptors (rods and cones), inner retinal cells (bipolar and amacrine cells), and the ganglion cells can be assessed by ERG. |
HP:0030453 |
| HPO |
HP:0001010 |
Hypopigmentation of the skin |
"A reduction of skin color related to a decrease in melanin production and deposition." [HPO:probinson] |
— |
HP:0001000 |
| HPO |
HP:0001876 |
Pancytopenia |
"An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets)." [HPO:probinson] |
— |
HP:0012145 |
| HPO |
HP:0002020 |
Gastroesophageal reflux |
"A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter." [HPO:probinson] |
— |
HP:0025270 |
| HPO |
HP:0002090 |
Pneumonia |
"Inflammation of any part of the lung parenchyma." [HPO:probinson] |
— |
HP:0011947, HP:0012649 |
| HPO |
HP:0002119 |
Ventriculomegaly |
"An increase in size of the ventricular system of the brain." [HPO:probinson] |
— |
HP:0002118 |
| HPO |
HP:0200053 |
Hemihypotrophy of lower limb |
"Shortening of a leg affecting only one side." [HPO:curators] |
— |
HP:0100556 |
| HPO |
HP:0000325 |
Triangular face |
"Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin." [DDD:jclayton-smith, PMID:19125436] |
— |
HP:0001999 |
| HPO |
HP:0012384 |
Rhinitis |
"Inflammation of the nasal mucosa with nasal congestion." [HPO:probinson] |
— |
HP:0000366 |
| HPO |
HP:0001762 |
Talipes equinovarus |
"Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg." [HPO:probinson, PMID:32491773] |
Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus. |
HP:0001883 |
| HPO |
HP:0002021 |
Pyloric stenosis |
"An abnormal narrowing of the pylorus." [HPO:probinson] |
Pyloric stenosis occurs in the first few months of life. |
HP:0004400 |
| HPO |
HP:0100507 |
Reduced blood folate concentration |
"A reduced circulating concentration of folic acid, which is also known as vitamin B9." [HPO:probinson] |
— |
HP:0040087 |
| HPO |
HP:0001177 |
Preaxial hand polydactyly |
"Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits." [HPO:probinson] |
— |
HP:0001161, HP:0001172, HP:0100258 |
| HPO |
HP:0012471 |
Thick vermilion border |
"Increased width of the skin of vermilion border region of upper lip." [HPO:probinson] |
— |
HP:0000159 |
| HPO |
HP:0001249 |
Intellectual disability |
"Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70." [HPO:probinson] |
This term should be used for children at least five years old. For younger children, consider the term Global developmental delay (HP:0001263). |
HP:0011446, HP:0012759 |
| HPO |
HP:0001629 |
Ventricular septal defect |
"A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:probinson, PMID:33327983] |
— |
HP:0010438 |
| HPO |
HP:0200136 |
Oral-pharyngeal dysphagia |
— |
— |
HP:0002015 |