| HPO |
HP:0008278 |
Cerebellar cortical atrophy |
"Atrophy (wasting) of the cerebellar cortex." [HPO:probinson] |
Cerebellar cortical atrophy may be associated with vacuolated or binucleated Purkinje cells. |
HP:0001272 |
| HPO |
HP:0000238 |
Hydrocephalus |
"Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation." [HPO:probinson, PMID:18211712, PMID:19410151] |
Hydrocephalus results from an imbalance between the rate of production of cerebrospinal fluid (CSF), mainly in the choroid plexus, and its reabsorption in the subarchnoid space over brain and spinal cord. |
HP:0002118, HP:0002921 |
| HPO |
HP:0000444 |
Convex nasal ridge |
"Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low." [PMID:19152422] |
— |
HP:0011119 |
| HPO |
HP:0000556 |
Retinal dystrophy |
"Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event." [ORCID:0000-0003-0986-4123] |
— |
HP:0000479 |
| 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 |
| HPO |
HP:0002566 |
Intestinal malrotation |
"An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis." [HPO:probinson, PMID:12438031] |
— |
HP:0002242 |
| HPO |
HP:0003196 |
Short nose |
"Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip." [HPO:probinson, PMID:19152422] |
Note: a small nose has both decreased height and a decreased width. These should be coded separately. |
HP:0005105 |
| HPO |
HP:0000648 |
Optic atrophy |
"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy." [HPO:probinson] |
The diagnosis of optic atrophy is made when the optic disc loses its normal orange-pink color. Optic atrophy is an end stage that arises from myriad causes of optic nerve damage anywhere along the path from the retina to the lateral geniculate. Some of the most common etiologies are advanced glaucoma, optic neuritis, arteritic or non-arteritic ischaemic optic neuropathy or a compressive lesion. |
HP:0012795 |
| HPO |
HP:0011220 |
Prominent forehead |
"Forward prominence of the entire forehead, due to protrusion of the frontal bone." [PMID:19125436] |
Not to be confused with frontal bossing. |
HP:0000290 |
| HPO |
HP:0007513 |
Generalized hypopigmentation |
— |
— |
HP:0001010 |
| HPO |
HP:0008724 |
Hypoplasia of the ovary |
"Developmental hypoplasia of the ovary." [HPO:probinson] |
— |
HP:0010462 |
| HPO |
HP:0001397 |
Hepatic steatosis |
"Steatosis is a term used to denote lipid accumulation within hepatocytes." [HPO:probinson, PMID:31603713] |
Although steatosis is the hallmark of the fatty liver disease, it is not a specific feature because it can be seen as part of other disease processes, such as drug injury, Wilson disease, or hepatitis C virus infection (especially genotype-3). Involvement of less than 5% of the hepatocytes by steatosis is considered clinically insignificant and within reference range. Based on the morphologic appearance and the size of the lipid droplets within the cytoplasm of the hepatocytes, steatosis is characterized as macrovesicular or microvesicular. Macrovesicular steatosis is characterized by large lipid droplets occupying the cytoplasm, displacing the nucleus to the periphery (large droplet macrovesicular steatosis) or multiple small lipid droplets of variable size occupying the cytoplasm with the nucleus maintaining its central location (small droplet macrovesicular steatosis). Microvesicular steatosis is characterized by innumerable tiny, relatively uniform lipid vacuoles that result in a bubbly appearance of the hepatocytes. |
HP:0006561 |
| HPO |
HP:0002157 |
Azotemia |
"An increased concentration of nitrogen compounds in the blood." [HPO:gcarletti] |
Abnormal levels of nitrogen-containing compounds, such as urea and creatinine. |
HP:0004364 |
| HPO |
HP:0011344 |
Severe global developmental delay |
"A severe delay in the achievement of motor or mental milestones in the domains of development of a child." [DDD:hvfirth] |
— |
HP:0001263 |
| HPO |
HP:0001511 |
Intrauterine growth retardation |
"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age." [HPO:probinson] |
Intrauterine growth restriction is a newer term that is preferred over Intrauterine growth retardation. The causes of IUGR include maternal abnormalities (chronic hypertension, cyanotic heart disease, smoking, drug abuse), placental or umbilical cord abnormalities (including placenta previa and cord anomalies), maternal medicationas, and genetic disorders of the fetus. |
HP:0001510 |
| HPO |
HP:0001596 |
Alopecia |
"A noncongenital process of hair loss, which may progress to partial or complete baldness." [PMID:14676077] |
— |
HP:0011362 |
| HPO |
HP:0001371 |
Flexion contracture |
"A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints." [HPO:probinson] |
— |
HP:0003549, HP:0011729, HP:0011805, HP:0100261 |
| 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: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:0012743 |
Abdominal obesity |
"Excessive fat around the stomach and abdomen." [HPO:probinson] |
— |
HP:0001513 |
| HPO |
HP:0000054 |
Micropenis |
"Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm." [HPO:probinson, PMID:15102623] |
— |
HP:0008736 |
| HPO |
HP:0000293 |
Full cheeks |
"Increased prominence or roundness of soft tissues between zygomata and mandible." [DDD:awilkie] |
— |
HP:0004426 |
| HPO |
HP:0000185 |
Cleft soft palate |
"Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency." [HPO:curators] |
— |
HP:0000175, HP:0100736 |
| HPO |
HP:0000662 |
Nyctalopia |
"Inability to see well at night or in poor light." [HPO:probinson] |
— |
HP:0000504 |
| HPO |
HP:0002714 |
Downturned corners of mouth |
"A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure." [HPO:probinson, PMID:19125428] |
This finding should be assessed with the mouth closed, the lips in relaxed contact, and the face relaxed. The finding may be difficult to assess if the lower lip is enlarged. Previous terms for downturned corners of mouth included Carp mouth andFish mouth which are no longer recommended (pejorative terms). |
HP:0011338 |