Gene: COL4A1
Cytoband position: 13q34
OMIM: 120130
RVIS score: -2.82
RVIS percentage: 0.62
| Phenotype name | HPO ID | Alternative HPO ID | Phenotype description |
|---|---|---|---|
| Abnormality of head or neck | HP:0000152 | None | An abnormality of head and neck. |
| Abnormality of the mouth | HP:0000153 | None | An abnormality of the mouth. |
| Hemiplegia | HP:0002301 | None | Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body. |
| Headache | HP:0002315 | HP:0001354 | Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. |
| Raynaud phenomenon | HP:0030880 | None | None |
| Abnormal cerebellar vermis morphology | HP:0002334 | None | An anomaly of the vermis of cerebellum. |
| Cerebellar cyst | HP:0002350 | None | None |
| Leukoencephalopathy | HP:0002352 | HP:0007073 | This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells. |
| Abnormal cerebral vascular morphology | HP:0100659 | None | An anomaly of the cerebral blood vessels. |
| Abnormality of the curvature of the cornea | HP:0100691 | None | None |
| Abnormal hard palate morphology | HP:0100737 | None | None |
| Abnormal soft palate morphology | HP:0100736 | None | An abnormality of the soft palate. |
| Cerebellar malformation | HP:0002438 | None | None |
| Limb dystonia | HP:0002451 | None | A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs. |
| Macrogyria | HP:0007227 | None | Increased size of cerebral gyri, often associated with a moderate reduction in the number of sulci of the cerebrum. |
| Abnormal cerebral cortex morphology | HP:0002538 | None | Any structural abnormality of the cerebral cortex. |
| Cortical dysplasia | HP:0002539 | HP:0007139 | The presence of developmental dysplasia of the cerebral cortex. |
| Abnormality of globe size | HP:0100887 | HP:0010725 | An abnormality in the size of the ocular globe (eyeball). |
| Abnormality of the vasculature | HP:0002597 | None | An abnormality of the vasculature. |
| Vascular dilatation | HP:0002617 | None | Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart. |
| Cerebral ischemia | HP:0002637 | None | None |
| Abnormality of limb bone morphology | HP:0002813 | None | Any abnormality of bones of the arms or legs. |
| Abnormality of the lower limb | HP:0002814 | None | An abnormality of the leg. |
| Abnormality of the cerebrospinal fluid | HP:0002921 | None | An abnormality of the cerebrospinal fluid (CSF). |
| Aplasia/Hypoplasia involving the central nervous system | HP:0002977 | HP:0001323 | Absence or underdevelopment of tissue in the central nervous system. |
| Abnormality of the musculature | HP:0003011 | HP:0040290 | Abnormality originating in one or more muscles, i.e., of the set of muscles of body. |
| Abnormality of urine homeostasis | HP:0003110 | HP:0011866 | An abnormality of the composition of urine or the levels of its components. |
| Skeletal muscle atrophy | HP:0003202 | HP:0100868 | The presence of skeletal muscular atrophy (which is also known as amyotrophy). |
| Elevated circulating creatine kinase concentration | HP:0003236 | HP:0008164 | An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy. |
| External genital hypoplasia | HP:0003241 | HP:0003245 | Underdevelopment of part or all of the external reproductive organs. |
| Cleft soft palate | HP:0000185 | None | 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. |
| Bifid uvula | HP:0000193 | HP:0410032 | Uvula separated into two parts most easily seen at the tip. |
| Abnormality of the head | HP:0000234 | None | An abnormality of the head. |
| Hydrocephalus | HP:0000238 | HP:0008503 | 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. |
| Abnormality of skull size | HP:0000240 | None | Any abnormality of the size of the skull. |
| Microcephaly | HP:0000252 | HP:0005497 | Head circumference below 2 standard deviations below the mean for age and gender. |
| Macrocephaly | HP:0000256 | HP:0200135 | Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. |
| Abnormality of the face | HP:0000271 | None | An abnormality of the face. |
| Abnormality of facial musculature | HP:0000301 | None | An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve). |
| Abnormality of the outer ear | HP:0000356 | HP:0001752 | An abnormality of the external ear. |
| Abnormal location of ears | HP:0000357 | None | Abnormal location of the ear. |
| Posteriorly rotated ears | HP:0000358 | HP:0008535 | A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). |
| Abnormality of the musculoskeletal system | HP:0033127 | None | An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body. |
| Low-set ears | HP:0000369 | None | Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. |
| Abnormality of the pinna | HP:0000377 | HP:0008602 | An abnormality of the pinna, which is also referred to as the auricle or external ear. |
| Protruding ear | HP:0000411 | HP:0000412 | Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective). |
| Submucous cleft of soft and hard palate | HP:0410031 | None | Soft and hard-palate submucous clefts are characterized by bony defects in the midline of the soft and hard palate that are covered by the lining (ie mucous membrane) of the roof of the mouth. |
| Abnormality of the eye | HP:0000478 | None | Any abnormality of the eye, including location, spacing, and intraocular abnormalities. |
| Abnormal retinal morphology | HP:0000479 | HP:0007938 | A structural abnormality of the retina. |
| Abnormal cornea morphology | HP:0000481 | HP:0007972 | Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber. |
| Microcornea | HP:0000482 | HP:0100688 | A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood. |
| Astigmatism | HP:0000483 | None | A type of astigmatism associated with abnormal curvatures on the anterior and/or posterior surface of the cornea. |
| Strabismus | HP:0000486 | HP:0000487 | A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. |
| Abnormality of eye movement | HP:0000496 | HP:0006860 | An abnormality in voluntary or involuntary eye movements or their control. |
| Glaucoma | HP:0000501 | None | Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. |
| Abnormality of vision | HP:0000504 | None | Abnormality of eyesight (visual perception). |
| Abnormal posterior cranial fossa morphology | HP:0000932 | HP:0007306 | An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum. |
| Muscle spasm | HP:0003394 | HP:0031988 | Sudden and involuntary contractions of one or more muscles. |
| Internal hemorrhage | HP:0011029 | None | The presence of hemorrhage within the body. |
| Abnormality of the urinary system physiology | HP:0011277 | None | None |
| Abnormality of muscle size | HP:0030236 | None | Abnormalities of the overall muscle bulk based on clinical observation. |
| Weakness of facial musculature | HP:0030319 | None | Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve). |
| Abnormality of cardiovascular system morphology | HP:0030680 | HP:0002565 | Any structural anomaly of the heart and great vessels. |
| Central nervous system cyst | HP:0030724 | None | A fluid-filled sac (cyst) located within the central nervous system. |
| Abnormality of the kidney | HP:0000077 | None | An abnormality of the kidney. |
| Hyperintensity of cerebral white matter on MRI | HP:0030890 | None | A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter. |
| Abnormality of cardiovascular system electrophysiology | HP:0030956 | None | An anomaly of the electrical conduction physiology of the heart. |
| Abnormality of male external genitalia | HP:0000032 | None | An abnormality of male external genitalia. |
| Renal cyst | HP:0000107 | HP:0000109 | A fluid filled sac in the kidney. |
| Developmental cataract | HP:0000519 | HP:0007788 | A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens. |
| Abnormality iris morphology | HP:0000525 | None | An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil. |
| Abnormal chorioretinal morphology | HP:0000532 | HP:0007888 | An abnormality of the choroid and retina. |
| Abnormality of refraction | HP:0000539 | None | An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina. |
| Hypermetropia | HP:0000540 | None | An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry. |
| Retinal detachment | HP:0000541 | HP:0008021 | Separation of the inner layers of the retina (neural retina) from the pigment epithelium. |
| Optic disc pallor | HP:0000543 | HP:0001484 | A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. |
| Myopia | HP:0000545 | HP:0008012 | An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. |
| Abnormal conjugate eye movement | HP:0000549 | None | Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object. |
| Abnormal uvea morphology | HP:0000553 | None | An abnormality of the uvea, the vascular layer of the eyeball. |
| Retinal dystrophy | HP:0000556 | HP:0007982 | 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. |
| Microphthalmia | HP:0000568 | HP:0007996 | A developmental anomaly characterized by abnormal smallness of one or both eyes. |
| Visual loss | HP:0000572 | None | Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that). |
| Retinal hemorrhage | HP:0000573 | None | Hemorrhage occurring within the retina. |
| Exotropia | HP:0000577 | HP:0008033 | A form of strabismus with one or both eyes deviated outward. |
| Abnormal blood vessel morphology | HP:0033353 | None | Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein). |
| Abnormality of the optic nerve | HP:0000587 | None | Abnormality of the optic nerve. |
| Coloboma | HP:0000589 | HP:0007995 | A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa. |
| Abnormality of the ear | HP:0000598 | None | An abnormality of the ear. |
| Abnormal choroid morphology | HP:0000610 | HP:0001122 | Any structural abnormality of the choroid. |
| Iris coloboma | HP:0000612 | HP:0007748 | A coloboma of the iris. |
| Abnormal pupil morphology | HP:0000615 | HP:0030960 | An abnormality of the pupil. |
| Blurred vision | HP:0000622 | HP:0007723 | Lack of sharpness of vision resulting in the inability to see fine detail. |
| Abnormal retinal artery morphology | HP:0000630 | None | None |
| Amblyopia | HP:0000646 | None | Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. |
| Optic atrophy | HP:0000648 | HP:0007855 | 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. |
| Abnormality of the nervous system | HP:0000707 | HP:0006987 | An abnormality of the nervous system. |
| Dementia | HP:0000726 | HP:0007283 | 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. |
| Cerebellar hypoplasia | HP:0001321 | HP:0007053 | Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time. |
| Abnormal peripheral nervous system morphology | HP:0000759 | HP:0003483 | A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system). |
| Hematuria | HP:0000790 | None | The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). |
| Abnormal external genitalia | HP:0000811 | None | None |
| Abnormality of the skeletal system | HP:0000924 | None | An abnormality of the skeletal system. |
| Abnormal skull morphology | HP:0000929 | None | An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones. |
| Abnormality of corneal size | HP:0001120 | None | Any abnormality of the size or morphology of the cornea. |
| Retinal arteriolar tortuosity | HP:0001136 | None | The presence of an increased number of twists and turns of the retinal arterioles. |
| Nephropathy | HP:0000112 | None | A nonspecific term referring to disease or damage of the kidneys. |
| Aplasia/Hypoplasia involving the skeletal musculature | HP:0001460 | None | Absence or underdevelopment of the musculature. |
| Abnormality of the genitourinary system | HP:0000119 | HP:0008713 | The presence of any abnormality of the genitourinary system. |
| Abnormality of the genital system | HP:0000078 | None | An abnormality of the genital system. |
| Abnormality of the urinary system | HP:0000079 | None | An abnormality of the urinary system. |
| Renal insufficiency | HP:0000083 | HP:0004723 | A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. |
| Abnormal uvula morphology | HP:0000172 | None | Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate. |
| Abnormality of the lens | HP:0000517 | None | An abnormality of the lens. |
| Cataract | HP:0000518 | HP:0010700 | A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. |
| Anophthalmia | HP:0000528 | HP:0007664 | Absence of the globe or eyeball. |
| Abnormal fundus morphology | HP:0001098 | None | Any structural abnormality of the fundus of the eye. |
| Visual field defect | HP:0001123 | None | None |
| Intellectual disability | HP:0001249 | HP:0007180 | 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. |
| Abnormal cerebral white matter morphology | HP:0002500 | HP:0200100 | An abnormality of the cerebral white matter. |
| Abnormal cortical gyration | HP:0002536 | HP:0006900 | An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain. |
| Seizure | HP:0001250 | HP:0010520 | 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. |
| Hypotonia | HP:0001252 | HP:0011398 | Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. |
| Abnormality of limbs | HP:0040064 | None | None |
| Abnormality of limb bone | HP:0040068 | None | None |
| Spasticity | HP:0001257 | None | A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. |
| Abnormality of hindbrain morphology | HP:0011282 | None | An abnormality of the hindbrain, also known as the rhombencephalon. |
| Heterotropia | HP:0032012 | None | Manifest deviation of the visual axes not controlled by fusion. |
| Focal cortical dysplasia | HP:0032046 | None | A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons. |
| Abnormal circulating metabolite concentration | HP:0032180 | None | An abnormal level of an analyte measured in the blood. |
| Global developmental delay | HP:0001263 | HP:0007342 | 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. |
| Hyporeflexia | HP:0001265 | HP:0002467 | Reduction of neurologic reflexes such as the knee-jerk reaction. |
| Mental deterioration | HP:0001268 | HP:0007298 | Loss of previously present mental abilities, generally in adults. |
| Hemiparesis | HP:0001269 | None | Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. |
| Abnormal corpus callosum morphology | HP:0001273 | HP:0007323 | Abnormality of the corpus callosum. |
| Abnormal oral cavity morphology | HP:0000163 | None | Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth. |
| Cleft palate | HP:0000175 | HP:0410004 | Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). |
| Oral cleft | HP:0000202 | None | The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. |
| Visual impairment | HP:0000505 | HP:0007983 | Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. |
| Tissue ischemia | HP:0033401 | None | Ischemia is defined as a restriction of arterial blood supply to a tissue associated with insufficient oxygenation to support the metabolis requirements of the tissue. Depending on the involved tissues, clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. Additional associated manifestations include hemodynamic parameters (reduced blood pressure distal to the site of restricted arterial supply) and angiographic evidence of arterial occclusion. |
| Thin corpus callosum | HP:0033725 | None | An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration). |
| Cerebellar atrophy | HP:0001272 | HP:0007203 | Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event. |
| Abnormality of movement | HP:0100022 | HP:0001294 | An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. |
| Autosomal dominant inheritance | HP:0000006 | HP:0001463 | 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. |
| Cryptorchidism | HP:0000028 | HP:0000797 | Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. |
| Abnormal testis morphology | HP:0000035 | None | An anomaly of the testicle (the male gonad). |
| Abnormal penis morphology | HP:0000036 | None | Abnormality of the male external sex organ. |
| Hypoplastic male external genitalia | HP:0000050 | HP:0008721 | Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra). |
| Abnormal palate morphology | HP:0000174 | None | Any abnormality of the palate, i.e., of roof of the mouth. |
| Tetraparesis | HP:0002273 | HP:0002338 | Weakness of all four limbs. |
| Hypertonia | HP:0001276 | HP:0002388 | A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. |
| Areflexia | HP:0001284 | HP:0001314 | Absence of neurologic reflexes such as the knee-jerk reaction. |
| Abnormal cranial nerve morphology | HP:0001291 | HP:0003480 | Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem. |
| Cranial nerve compression | HP:0001293 | None | None |
| Stroke | HP:0001297 | HP:0002452 | Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. |
| Pachygyria | HP:0001302 | None | Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly. |
| Reduced tendon reflexes | HP:0001315 | HP:0001316 | Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease. |
| Abnormal cerebellum morphology | HP:0001317 | None | Any structural abnormality of the cerebellum. |
| Cerebellar vermis hypoplasia | HP:0001320 | None | Underdevelopment of the vermis of cerebellum. |
| Muscle weakness | HP:0001324 | HP:0009061 | Reduced strength of muscles. |
| Specific learning disability | HP:0001328 | HP:0007234 | Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. |
| Absent septum pellucidum | HP:0001331 | HP:0006969 | Absence of the septum pellucidum. |
| Dystonia | HP:0001332 | HP:0002328 | An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. |
| Lissencephaly | HP:0001339 | HP:0002537 | A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly. |
| Cerebral hemorrhage | HP:0001342 | HP:0002137 | Hemorrhage into the parenchyma of the brain. |
| Abnormality of the cardiovascular system | HP:0001626 | None | Any abnormality of the cardiovascular system. |
| Abnormality of head blood vessel | HP:3000036 | None | An abnormality of a blood vessel of the head, including branches of the arterial and venous systems of the head. |
| Abnormal foot morphology | HP:0001760 | HP:0010611 | An abnormality of the skeleton of foot. |
| Abnormal metatarsal morphology | HP:0001832 | None | Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes). |
| Abnormality of blood and blood-forming tissues | HP:0001871 | HP:0003135 | An abnormality of the hematopoietic system. |
| Abnormal erythrocyte morphology | HP:0001877 | HP:0010973 | Any structural abnormality of erythrocytes (red-blood cells). |
| Hemolytic anemia | HP:0001878 | HP:0005503 | A type of anemia caused by premature destruction of red blood cells (hemolysis). |
| Abnormal bleeding | HP:0001892 | HP:0008183 | An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. |
| Anemia | HP:0001903 | HP:0005509 | A reduction in erythrocytes volume or hemoglobin concentration. |
| Abnormality of metabolism/homeostasis | HP:0001939 | HP:0004367 | None |
| Morphological central nervous system abnormality | HP:0002011 | HP:0007319 | A structural abnormality of the central nervous system. |
| Abnormal cerebral morphology | HP:0002060 | None | Any structural abnormality of the telencephalon, which is also known as the cerebrum. |
| Migraine | HP:0002076 | HP:0007194 | Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. |
| Abnormal cerebral ventricle morphology | HP:0002118 | None | Any structural abnormality of the cerebral ventricles. |
| Ventriculomegaly | HP:0002119 | HP:0007071 | An increase in size of the ventricular system of the brain. |
| Polymicrogyria | HP:0002126 | None | Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds). |
| Porencephalic cyst | HP:0002132 | None | A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system. |
| Intracranial hemorrhage | HP:0002170 | None | Hemorrhage occurring within the skull. |
| Dilated fourth ventricle | HP:0002198 | HP:0007223 | An abnormal dilatation of the fourth cerebral ventricle. |
| Cognitive impairment | HP:0100543 | HP:0007211 | Abnormal cognition with deficits in thinking, reasoning, or remembering. |
| Abnormality of forebrain morphology | HP:0100547 | None | An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. |
| Abnormality of neuronal migration | HP:0002269 | HP:0007317 | An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain. |
| Babinski sign | HP:0003487 | HP:0001352 | Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract. |
| Muscular dystrophy | HP:0003560 | HP:0003806 | The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities. |
| Exodeviation | HP:0020049 | None | A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally. |
| Abnormal muscle tone | HP:0003808 | None | None |
| Phenotypic variability | HP:0003812 | HP:0003822 | A variability of phenotypic features. |
| Variable expressivity | HP:0003828 | HP:0003825 | A variable severity of phenotypic features. |
| Incomplete penetrance | HP:0003829 | HP:0003830 | A situation in which mutation carriers do not show clinically evident phenotypic abnormalities. |
| Abnormal anterior eye segment morphology | HP:0004328 | None | An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens). |
| Abnormal posterior eye segment morphology | HP:0004329 | None | None |
| Hemiplegia/hemiparesis | HP:0004374 | None | Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength. |
| Dilatation of the cerebral artery | HP:0004944 | HP:0006816 | The presence of a localized dilatation or ballooning of a cerebral artery. |
| Supraventricular arrhythmia | HP:0005115 | None | A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm. |
| Enlarged posterior fossa | HP:0005445 | None | Abnormal increased size of the posterior cranial fossa. |
| Multiple renal cysts | HP:0005562 | None | The presence of many cysts in the kidney. |
| Aplasia/Hypoplasia of the cerebellar vermis | HP:0006817 | HP:0007080 | Absence or underdevelopment of the vermis of cerebellum. |
| Facial paralysis | HP:0007209 | HP:0007358 | Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve). |
| Abnormality of blood circulation | HP:0011028 | None | An abnormality of blood circulation. |
| Abnormal lower limb bone morphology | HP:0040069 | HP:0040066 | None |
| Abnormal circulating creatine kinase concentration | HP:0040081 | None | Any deviation from the normal circulating creatine kinase concentration. |
| Aplasia/Hypoplasia of the cerebellum | HP:0007360 | HP:0007368 | None |
| Aplasia/Hypoplasia of the cerebrum | HP:0007364 | None | None |
| Aplasia/Hypoplasia of the corpus callosum | HP:0007370 | HP:0007137 | Absence or underdevelopment of the corpus callosum. |
| Increased head circumference | HP:0040194 | None | An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. |
| Reduced visual acuity | HP:0007663 | HP:0008008 | None |
| Hypoplasia of the iris | HP:0007676 | HP:0007998 | Congenital underdevelopment of the iris. |
| Ocular anterior segment dysgenesis | HP:0007700 | HP:0008040 | Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin. |
| Chorioretinal dysplasia | HP:0007731 | None | Abnormal development of the choroid and retina. |
| Hypopigmentation of the fundus | HP:0007894 | HP:0007752 | Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid). |
| Corneal opacity | HP:0007957 | HP:0008502 | A reduction of corneal clarity. |
| Retinal dysplasia | HP:0007973 | HP:0008022 | The presence of developmental dysplasia of the retina. |
| Abnormal retinal vascular morphology | HP:0008046 | None | A structural abnormality of retinal vasculature. |
| Abnormality of the vasculature of the eye | HP:0008047 | None | None |
| Aplasia/Hypoplasia of the iris | HP:0008053 | None | Absence or underdevelopment of the iris. |
| Aplasia/Hypoplasia affecting the uvea | HP:0008055 | None | Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid. |
| Aplasia/Hypoplasia affecting the eye | HP:0008056 | None | None |
| Aplasia/Hypoplasia affecting the anterior segment of the eye | HP:0008062 | None | Absence or underdevelopment of the anterior segment of the eye. |
| Peripapillary atrophy | HP:0500087 | None | Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve. |
| Abnormal vascular morphology | HP:0025015 | None | None |
| Hypoplasia of penis | HP:0008736 | HP:0008632 | None |
| Abnormal arterial physiology | HP:0025323 | None | An anomaly of arterial function. |
| Abnormal axial skeleton morphology | HP:0009121 | None | An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum. |
| Ectopia pupillae | HP:0009918 | None | A malposition of the pupil owing to a developmental defect of the iris. |
| Abnormality of the male genitalia | HP:0010461 | None | Abnormality of the male genital system. |
| Metatarsus valgus | HP:0010508 | None | A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight. |
| Intracranial cystic lesion | HP:0010576 | None | A cystic lesion originating within the brain. |
| Schizencephaly | HP:0010636 | None | The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area. |
| Abnormal circulating protein concentration | HP:0010876 | None | An abnormal level of a circulating protein in the blood. |
| Abnormality of the upper urinary tract | HP:0010935 | None | An abnormality of the upper urinary tract. |
| Abnormal fourth ventricle morphology | HP:0010950 | None | An abnormality of the fourth ventricle. |
| Abnormality of the cerebral subcortex | HP:0010993 | None | An abnormality of the cerebral subcortex. |
| Abnormal systemic arterial morphology | HP:0011004 | HP:0005114 | An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries. |
| Abnormality of circulating enzyme level | HP:0011021 | None | None |
| Abnormal cardiovascular system physiology | HP:0011025 | None | Abnormal functionality of the cardiovascular system. |
| Abnormal central motor function | HP:0011442 | None | An anomaly of the control or production of movement in the central nervous system. |
| Abnormality of higher mental function | HP:0011446 | None | Cognitive, psychiatric or memory anomaly. |
| Corneal neovascularization | HP:0011496 | None | Ingrowth of new blood vessels into the cornea. |
| Polycoria | HP:0011500 | None | Multiple pupils. |
| Arrhythmia | HP:0011675 | HP:0005158 | Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. |
| Abnormality of facial soft tissue | HP:0011799 | None | None |
| Abnormal muscle physiology | HP:0011804 | None | A functional abnormality of a skeletal muscle. |
| Abnormal skeletal muscle morphology | HP:0011805 | HP:0003735 | A structural abnormality of a skeletal muscle. |
| Abnormality of skeletal morphology | HP:0011842 | None | An abnormality of the form, structure, or size of the skeletal system. |
| Abnormal appendicular skeleton morphology | HP:0011844 | None | An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles. |
| Hemorrhage of the eye | HP:0011885 | None | Bleeding from vessels of the various tissues of the eye. |
| Anemia due to reduced life span of red cells | HP:0011895 | None | A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days. |
| Abnormal renal morphology | HP:0012210 | HP:0008712 | Any structural anomaly of the kidney. |
| Abnormal renal physiology | HP:0012211 | HP:0008646 | An abnormal functionality of the kidney. |
| Abnormal reproductive system morphology | HP:0012243 | None | A structural or developmental anomaly of any of the tissues involved in the genital system. |
| Abnormal lactate dehydrogenase level | HP:0045040 | None | A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate. |
| Abnormal eye morphology | HP:0012372 | HP:0012374 | A structural anomaly of the globe of the eye, or bulbus oculi. |
| Abnormal eye physiology | HP:0012373 | None | A functional anomaly of the eye. |
| Abnormal enzyme/coenzyme activity | HP:0012379 | None | An altered ability of any enzyme or their cofactors to act as catalysts. This term includes changes due to altered levels of an enzyme. |
| Abnormal aldolase level | HP:0012400 | None | An abnormal concentration of aldolase in the serum. Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate. |
| Abnormality of brain morphology | HP:0012443 | None | A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. |
| Diffuse optic disc pallor | HP:0012512 | None | A pale yellow discoloration of the entire optic disc. |
| Abnormal urine cytology | HP:0012614 | None | An anomalous finding in the examination of the urine for cells. |
| Abnormal nervous system physiology | HP:0012638 | None | A functional anomaly of the nervous system. |
| Abnormal nervous system morphology | HP:0012639 | None | A structural anomaly of the nervous system. |
| Neurodevelopmental delay | HP:0012758 | None | None |
| Abnormality of the optic disc | HP:0012795 | None | A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination. |
| Retinal vascular tortuosity | HP:0012841 | None | The presence of an increased number of twists and turns of the retinal blood vessels. |
| Abnormal vascular physiology | HP:0030163 | None | Abnormality of vascular function. |
| Tetraplegia/tetraparesis | HP:0030182 | None | Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength. |
| Abnormality of fundus pigmentation | HP:0031605 | None | Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve. |
| Abnormal ear morphology | HP:0031703 | None | Any structural anomaly of the ear. |
| Fundus hemorrhage | HP:0031803 | None | Bleeding within the fundus of the eye. |
| Abnormal oral morphology | HP:0031816 | None | Any structural anomaly of the mouth, which is also known as the oral cavity. |
| Abnormal reflex | HP:0031826 | None | Any anomaly of a reflex, i.e., of an automatic response mediated by the nervous system (a reflex does not need the intervention of conscious thought to occur). |
| Upper motor neuron dysfunction | HP:0002493 | None | A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs. |
| Abnormality of the skull base | HP:0002693 | None | An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components. |
| Abnormal pyramidal sign | HP:0007256 | HP:0007347 | Functional neurological abnormalities related to dysfunction of the pyramidal tract. |
| Abnormality of the septum pellucidum | HP:0007375 | None | An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain. |
| Decreased head circumference | HP:0040195 | None | An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean. |
| Abnormal metencephalon morphology | HP:0011283 | None | An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum. |
| Neurodevelopmental abnormality | HP:0012759 | None | A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. |
| Abnormal superficial reflex | HP:0031828 | None | An anomaly of a reflex that is elicited as a motor response to scraping of the skin. They are generally graded as present or absent. They differ from tendon reflexes in that the sensory signal must ascend the spinal cord to reach the brain and then descend the spinal cord to reach the motor neurons. |
| Submucous cleft hard palate | HP:0000176 | HP:0009091 | Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate. |
| Agenesis of corpus callosum | HP:0001274 | HP:0006800 | Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. |
| Dandy-Walker malformation | HP:0001305 | HP:0006809 | A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal. |
| Ischemic stroke | HP:0002140 | None | Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured. |
| Postural instability | HP:0002172 | None | A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps. |
| Paralysis | HP:0003470 | None | Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement. |
| Abnormal cerebral artery morphology | HP:0009145 | None | Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery. |
| Weakness due to upper motor neuron dysfunction | HP:0010549 | None | Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons. |