| HPO |
HP:0012799 |
Unilateral facial palsy |
"One-sided weakness of the muscles of facial expression and eye closure." [HPO:probinson] |
— |
HP:0010628 |
| HPO |
HP:0012800 |
Accessory cranial suture |
"A cranial suture that is in addition to canonical membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant." [HPO:probinson, PMID:20496093] |
The parietal and occipital bones in particular are common regions for accessory sutures because of their multiple ossification centers. Accessory sutures can be explained on the basis of incomplete union of the two separate ossification centers. Accessory sutures usually will show a zigzag pattern with interdigitations and sclerotic borders similar to major calvarial sutures. |
HP:0011329 |
| HPO |
HP:0012801 |
Narrow jaw |
"Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective)." [HPO:probinson, PMID:19125436] |
The width of the jaw is measured from the right gonion to the left gonion using spreading calipers. The gonion is the point at the angle of the bony mandible where the ramus changes direction to become the body of the mandible. It faces inferiorly and medially and is best found by placing a finger over the outward facing angle and rolling the finger downwards and inwards. |
HP:0000277 |
| HPO |
HP:0012802 |
Broad jaw |
"Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective)." [HPO:probinson, PMID:19125436] |
The lower jaw is measured from the right gonion to the left gonion using spreading calipers. The gonion is the point at the angle of the bony mandible where the ramus changes direction to become the body of the mandible. It faces inferiorly and medially and is best found by placing a finger over the outward facing angle and rolling the finger downwards and inwards. When a broad jaw is accompanied by a broad upper face the term Square face is used. |
HP:0000277 |
| HPO |
HP:0012803 |
Anisometropia |
"Inequality of refractive power of the two eyes." [HPO:probinson] |
— |
HP:0000539 |
| HPO |
HP:0012804 |
Corneal ulceration |
"Disruption of the epithelial layer of the cornea with involvement of the underlying stroma." [HPO:probinson] |
— |
HP:0011495 |
| HPO |
HP:0012805 |
Iris transillumination defect |
"Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris." [HPO:probinson, PMID:19920562] |
Initially, transillumination defects are usually slit-like, but if pigment loss increases, the defects may be become larger and irregularly shaped. |
HP:0008034 |
| HPO |
HP:0012806 |
Proboscis |
"A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline." [HPO:probinson, PMID:19152422] |
A proboscis has a single cavity. It may be found in association with a malformed nose and absence of one or both nares. |
HP:0005105 |
| HPO |
HP:0012807 |
High insertion of columella |
"Insertion of the posterior columella superior to the nasal base." [PMID:19152422] |
This feature is different from a convex Low hanging columella that has a normal insertion. It may be associated with a Short philtrum, but this should be assessed and coded separately. A low insertion is best appreciated when viewed from the side. |
HP:0009929 |
| HPO |
HP:0012808 |
Abnormal nasal base |
"An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face." [HPO:probinson, PMID:19152422] |
— |
HP:0000366 |
| HPO |
HP:0012809 |
Narrow nasal base |
"Decreased distance between the attachments of the alae nasi to the face." [HPO:probinson, PMID:19152422] |
There is a marked difference in width of the nasal base depending on ethnic background. |
HP:0012808 |
| HPO |
HP:0012810 |
Wide nasal base |
"Increased distance between the attachments of the alae nasi to the face." [HPO:probinson, PMID:19152422] |
There is a marked difference in width of the nasal base depending on ethnic background. |
HP:0012808 |
| HPO |
HP:0012811 |
Wide nasal ridge |
"Increased width of the nasal ridge." [HPO:probinson, PMID:19152422] |
This feature should be assessed in a frontal view. There is no objective measure of width. This may give the impression of a Depressed nasal ridge, but this should be assessed in profile and separately coded. Marked widening of the nasal ridge may be difficult to distinguish from a Bifid nose. |
HP:0011119 |
| HPO |
HP:0012812 |
Fullness of paranasal tissue |
"Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues." [HPO:probinson, PMID:19152422] |
This feature is distinct from Wide nasal ridge and Wide nasal bridge. |
HP:0005105 |
| HPO |
HP:0012813 |
Unilateral breast hypoplasia |
"Underdevelopment of the breast on one side only." [HPO:probinson] |
— |
HP:0003187 |
| HPO |
HP:0012814 |
Bilateral breast hypoplasia |
"Underdevelopment of the breast on both sides." [HPO:probinson] |
— |
HP:0003187 |
| HPO |
HP:0012815 |
Hypoplastic female external genitalia |
"Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris)." [HPO:probinson] |
— |
HP:0000055, HP:0003241 |
| HPO |
HP:0012816 |
Right ventricular noncompaction cardiomyopathy |
"A predominantly right ventricular variant of isolated noncompaction cardiomyopathy." [HPO:probinson, PMID:23921774] |
— |
HP:0012817 |
| HPO |
HP:0012817 |
Noncompaction cardiomyopathy |
"A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber." [HPO:probinson, PMID:15210614, PMID:24282766] |
Noncompaction of the ventricular myocardium is a cardiomyopathy thought to be caused by arrest of normal embryogenesis of the endocardium and myocardium. This abnormality is often associated with other congenital cardiac defects, but it is also seen in the absence of other cardiac anomalies. During early embryonic development, the myocardium is a loose network of interwoven fibers separated by deep recesses that link the myocardium with the left ventricular cavity. Gradual compaction of this spongy meshwork of fibers and intertrabecular recesses, or sinusoids, occurs between weeks 5 and 8 of embryonic life, proceeding from the epicardium to endocardium and from the base of the heart to the apex. Noncompaction of the ventricular myocardium (NVM) is an uncommon finding. It is thought to be caused by arrest of the normal process of endomyocardial morphogenesis. The left ventricle is uniformly affected, but biventricular noncompaction has been reported, with right ventricular noncompaction described in less than one-half of patients. Because of difficulty in distinguishing normal variants in the highly trabeculated right ventricle from the pathological noncompacted ventricle, several authors dispute the existence of right ventricular noncompaction [PMID:15210614]. |
HP:0001638 |
| HPO |
HP:0012818 |
Biventricular noncompaction cardiomyopathy |
"Noncompaction cardiomyopathy that affects both ventricles." [HPO:probinson] |
— |
HP:0012817 |
| HPO |
HP:0012819 |
Myocarditis |
"Inflammation of the myocardium." [HPO:probinson, PMID:21304213, PMID:22185868, PMID:22361396] |
Myocarditis can be caused by a variety of bacterial and viral infections. Enteroviruses, especially coxsackievirus B, and adenovirus and parvovirus B19 are often associated with acute myocarditis. Exposure to drug treatment, physical stimuli such as radiation and heat, metabolic disorders, immune disorders, and pregnancy are also causes of myocarditis. Many cases of myocarditis are idiopathic. Myocarditis presents with non-specific symptoms including chest pain, dyspnoea, and palpitations, and thus often mimics more common disorders such as coronary artery disease. In some patients, cardiac MRI and endomyocardial biopsy can help identify myocarditis, predict risk of cardiovascular events, and guide treatment. |
HP:0001637 |
| HPO |
HP:0012820 |
Bilateral vocal cord paralysis |
"A loss of the ability to move the vocal fold on both sides." [HPO:probinson] |
— |
HP:0001605 |
| HPO |
HP:0012821 |
Unilateral vocal cord paresis |
"Decreased strength of the vocal fold on one side." [HPO:probinson] |
— |
HP:0001604 |
| HPO |
HP:0012822 |
Bilateral vocal cord paresis |
"Decreased strength of the vocal fold on both sides." [HPO:probinson] |
— |
HP:0001604 |
| HPO |
HP:0012823 |
Clinical modifier |
"This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects." [HPO:probinson] |
Note that some of the terms, such as Intellectual disability, have children terms such as Severe intellectual disability that represent precomposed combinations of modifiers and phenotypic abnormality terms. This done where the medical community commonly uses these terms with a fixed meaning (for instance, the Intellectual disability terms are used with specific IQ ranges). For computational reasoning, the semantics are intended to be the same as if there was a combination of the phenotype term and the clinical modifier term. |
HP:0000001 |