| HPO |
HP:0001425 |
Heterogeneous |
— |
— |
HP:0000005 |
| HPO |
HP:0003011 |
Abnormality of the musculature |
"Abnormality originating in one or more muscles, i.e., of the set of muscles of body." [HPO:probinson] |
— |
HP:0033127 |
| HPO |
HP:0002514 |
Cerebral calcification |
"The presence of calcium deposition within brain structures." [HPO:probinson] |
This finding can be demonstrated upon cerebral computer tomography, magnetic resonance imaging, or potentially by standard radiography of the skull. |
HP:0002060, HP:0010766 |
| HPO |
HP:0002170 |
Intracranial hemorrhage |
"Hemorrhage occurring within the skull." [HPO:gcarletti] |
— |
HP:0011029, HP:0100659 |
| HPO |
HP:0006576 |
Hepatic vascular malformations |
— |
— |
HP:0006707 |
| HPO |
HP:0003829 |
Incomplete penetrance |
"A situation in which mutation carriers do not show clinically evident phenotypic abnormalities." [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:0007797 |
Retinal vascular malformation |
— |
— |
HP:0008046 |
| HPO |
HP:0002315 |
Headache |
"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve." [HPO:probinson, PMID:15304572] |
Headache is one of the most common types of recurrent pain as well as one of the most frequent symptoms in neurology. In addition to occasional headaches, there are well-defined headache disorders that vary in incidence, prevalence and duration and can be divided into two broad categories. In secondary headache disorders, headaches are attributed to another condition, such as brain tumour or head injury; for the primary disorders the headache is not due to another condition. |
HP:0012638 |
| HPO |
HP:0000006 |
Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
— |
HP:0000005 |
| HPO |
HP:0001250 |
Seizure |
"A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain." [HPO:probinson, PMID:15816939] |
A type of electrographic seizure has been proposed in neonates which does not have a clinical correlate, it is electrographic only. The term epilepsy is not used to describe recurrent febrile seizures. Epilepsy presumably reflects an abnormally reduced seizure threshold. |
HP:0012638 |
| HPO |
HP:0000951 |
Abnormality of the skin |
"An abnormality of the skin." [HPO:probinson] |
— |
HP:0001574 |
| HPO |
HP:0100561 |
Spinal cord lesion |
— |
— |
HP:0002143 |
| HPO |
HP:0012721 |
Venous malformation |
"A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region." [HPO:probinson] |
Venous malformations are always present at birth, and usually involve the skin of the face, limbs, or trunk. |
HP:0002624 |
| HPO |
HP:0011513 |
Retinal cavernous angioma |
"A benign tumor of the retina that appears as a grouping of blood-filled saccules within the inner retinal layers or on the surface of the optic disc. Retinal cavernous angioma are described as having a 'cluster of grapes' appearance." [HPO:probinson, PMID:20844673] |
The lesions are variable in size and location, and frequently follow the course of a major retinal vein. Epiretinal membranes are a common feature. In contrast to retinal capillary hemangiomas, cavernous hemangiomas lack prominent feeder vessels, intraretinal exudate, and surrounding subretinal fluid. Because the fundoscopic features are characteristic, diagnosis can generally be made based upon clinical appearance. |
HP:0007797 |
| HPO |
HP:0011276 |
Vascular skin abnormality |
— |
— |
HP:0002597, HP:0011354 |
| HPO |
HP:0012748 |
Focal T2 hyperintense brainstem lesion |
"A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem." [UToronto:htrang] |
— |
HP:0012747 |
| HPO |
HP:0002650 |
Scoliosis |
"The presence of an abnormal lateral curvature of the spine." [HPO:probinson] |
— |
HP:0010674 |
| HPO |
HP:0100543 |
Cognitive impairment |
"Abnormal cognition with deficits in thinking, reasoning, or remembering." [HPO:sdoelken] |
An individual with cognitive impairment may have trouble remembering, learning new things, concentrating, or making decisions. |
HP:0011446 |
| HPO |
HP:0002315 |
Headache |
"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve." [HPO:probinson, PMID:15304572] |
Headache is one of the most common types of recurrent pain as well as one of the most frequent symptoms in neurology. In addition to occasional headaches, there are well-defined headache disorders that vary in incidence, prevalence and duration and can be divided into two broad categories. In secondary headache disorders, headaches are attributed to another condition, such as brain tumour or head injury; for the primary disorders the headache is not due to another condition. |
HP:0012638 |
| HPO |
HP:0012749 |
Focal T2 hypointense brainstem lesion |
"A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hypointensity affecting a particular region of the brainstem." [UToronto:htrang] |
— |
HP:0012747 |
| HPO |
HP:0001342 |
Cerebral hemorrhage |
"Hemorrhage into the parenchyma of the brain." [HPO:gcarletti] |
A cerebral hemorrhage (or intracerebral hemorrhage, ICH), is a type of intracranial hemorrhage that occurs within the brain tissue itself. |
HP:0002170 |
| HPO |
HP:0002572 |
Episodic vomiting |
"Paroxysmal, recurrent episodes of vomiting." [HPO:curators] |
— |
HP:0002013 |
| HPO |
HP:0007872 |
Choroidal hemangioma |
"The presence of multiple hemangiomas in the choroid. These are generally reddish or orange or can have increased pigmentation maiking them difficult to distinguish from choroidal melanomas." [HPO:probinson] |
Choroidal hemangiomas can cause hyperopia or other visual symptoms such as blurred or distorted vision. Some choroidal hemangiomas are asymptomatic. |
HP:0001028, HP:0025568 |
| HPO |
HP:0001250 |
Seizure |
"A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain." [HPO:probinson, PMID:15816939] |
A type of electrographic seizure has been proposed in neonates which does not have a clinical correlate, it is electrographic only. The term epilepsy is not used to describe recurrent febrile seizures. Epilepsy presumably reflects an abnormally reduced seizure threshold. |
HP:0012638 |
| HPO |
HP:0002516 |
Increased intracranial pressure |
"An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid." [HPO:probinson] |
Normal values of intracranial pressure in adults are around 7-15 mm Hg in the supine position. The term pseudotumor cerebri (also: idiopathic intracranial hypertension or benign intracranial hypertension) is the presence of increased intracranial pressure in the absence of a brain tumor or other identifiable cause. It should be coded using this term and negations of appropriate other HPO terms. Increased intracranial pressure can damage tissue, contribute to hydrocephalus, cause brain herniation, and restrict blood supply to the brain. |
HP:0012640 |