| HPO |
HP:0040139 |
Lipogranulomatosis |
"Yellow nodules of lipoid material are deposited in the skin and mucosae. This gives rise to granulomatous reactions." [] |
Usually caused by a faulty lipid metabolism |
HP:0002955, HP:0004356 |
| HPO |
HP:0003828 |
Variable expressivity |
"A variable severity of phenotypic features." [HPO:probinson] |
This term can be applied to disease entities but not to individuals. It may be made obsolete in future versions of the HPO. |
HP:0003812 |
| HPO |
HP:0001615 |
Hoarse cry |
— |
— |
HP:0001609 |
| HPO |
HP:0001744 |
Splenomegaly |
"Abnormal increased size of the spleen." [HPO:probinson] |
— |
HP:0003271, HP:0025408 |
| HPO |
HP:0001369 |
Arthritis |
"Inflammation of a joint." [HPO:probinson] |
— |
HP:0001367 |
| 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:0002093 |
Respiratory insufficiency |
— |
— |
HP:0002795 |
| 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:0001386 |
Joint swelling |
— |
— |
HP:0000969, HP:0001367 |
| HPO |
HP:0002240 |
Hepatomegaly |
"Abnormally increased size of the liver." [HPO:probinson] |
— |
HP:0003271, HP:0410042 |
| HPO |
HP:0007470 |
Periarticular subcutaneous nodules |
"Subcutaneous nodules that are located in the vicinity of joints." [HPO:probinson] |
— |
HP:0001482 |
| HPO |
HP:0001270 |
Motor delay |
"A type of Developmental delay characterized by a delay in acquiring motor skills." [HPO:probinson] |
— |
HP:0012758 |
| 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:0003676 |
Progressive |
"Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age." [] |
— |
HP:0003679 |
| HPO |
HP:0000737 |
Irritability |
"A proneness to anger, i.e., a condition of being easily bothered or annoyed." [PMID:27343883] |
— |
HP:0100851 |
| HPO |
HP:0010729 |
Cherry red spot of the macula |
"Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparancy of the macula." [HPO:probinson] |
— |
HP:0000630 |
| HPO |
HP:0002359 |
Frequent falls |
— |
— |
HP:0002311, HP:0004302 |
| 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:0001284 |
Areflexia |
"Absence of neurologic reflexes such as the knee-jerk reaction." [HPO:probinson] |
The strectch reflexes (also called deep tendon relfexes) include the knee-jerk reflex (patellar reflex, the biceps reflex, the triceps reflex, and the ankle jerk reflex or Achilles tendon reflex). |
HP:0001315 |
| HPO |
HP:0003676 |
Progressive |
"Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age." [] |
— |
HP:0003679 |
| HPO |
HP:0002650 |
Scoliosis |
"The presence of an abnormal lateral curvature of the spine." [HPO:probinson] |
— |
HP:0010674 |
| HPO |
HP:0002355 |
Difficulty walking |
"Reduced ability to walk (ambulate)." [HPO:probinson] |
— |
HP:0001288, HP:0004302 |
| HPO |
HP:0003621 |
Juvenile onset |
"Onset of signs or symptoms of disease between the age of 5 and 15 years." [HPO:probinson] |
— |
HP:0410280 |
| HPO |
HP:0200136 |
Oral-pharyngeal dysphagia |
— |
— |
HP:0002015 |
| HPO |
HP:0000726 |
Dementia |
"A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior." [HPO:probinson] |
— |
HP:0001268 |