Human Phenotype Ontology

The Human Phenotype Ontology table provides information on the disease phenotypes associated with a particular gene.

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.