Human Phenotype Ontology

Gene: SMARCB1

Cytoband position: 22q11.23

OMIM: 601607

RVIS score: -0.34

RVIS percentage: 30.07

Phenotype name	HPO ID	Alternative HPO ID	Phenotype description
Abnormal brain positron emission tomography	HP:0012657	None	A functional brain anomaly detectable by positron emission tomography (PET). PET scanning is a method for functional brain imaging, and its measurements reflect the amount of brain activity in the various regions of the brain.
Abnormal brain FDG positron emission tomography	HP:0012658	None	An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity.
Focal T2 hypointense thalamic lesion	HP:0012691	None	A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hypointensity affecting a particular region of the thalamus.
Abnormal thalamic MRI signal intensity	HP:0012696	None	A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus.
Neurodevelopmental delay	HP:0012758	None	None
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.
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.
Abnormal nasal base	HP:0012808	None	An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face.
Wide nasal base	HP:0012810	None	Increased distance between the attachments of the alae nasi to the face.
Amenorrhea	HP:0000141	None	Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months.
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.
Wide mouth	HP:0000154	HP:0002052	Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).
Abnormality of the tongue	HP:0000157	None	Any abnormality of the tongue.
Macroglossia	HP:0000158	HP:0000203	Increased length and width of the tongue.
Abnormal lip morphology	HP:0000159	None	An abnormality of the lip.
Abnormal oral cavity morphology	HP:0000163	None	Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth.
Abnormality of the dentition	HP:0000164	HP:0006348	Any abnormality of the teeth.
Abnormality of upper lip	HP:0000177	None	An abnormality of the upper lip.
Abnormality of lower lip	HP:0000178	None	An abnormality of the lower lip.
Thin upper lip vermilion	HP:0000219	HP:0200086	Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
Apathy	HP:0000741	None	None
Abnormality of finger	HP:0001167	HP:0003035	An anomaly of a finger.
Abnormal fingernail morphology	HP:0001231	None	An abnormality of the fingernails.
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.
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.
Ataxia	HP:0001251	HP:0007157	Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
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.
Excessive daytime somnolence	HP:0001262	HP:0002189	A state of abnormally strong desire for sleep during the daytime.
Abnormal corpus callosum morphology	HP:0001273	HP:0007323	Abnormality of the corpus callosum.
Abnormal cerebellum morphology	HP:0001317	None	Any structural abnormality of the cerebellum.
Growth abnormality	HP:0001507	HP:0008904	None
Abnormality of the scalp hair	HP:0100037	None	An abnormality of the hair of head.
Abnormal nasopharynx morphology	HP:0001739	None	A structural anomaly of the nasopharynx.
Small nail	HP:0001792	HP:0001813	A nail that is diminished in length and width, i.e., underdeveloped nail.
Hypoplastic toenails	HP:0001800	None	Underdevelopment of the toenail.
Hypoplastic fingernail	HP:0001804	None	Underdevelopment of a fingernail.
Abnormality of blood and blood-forming tissues	HP:0001871	HP:0003135	An abnormality of the hematopoietic system.
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.
Sarcoma	HP:0100242	None	A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant.
Abnormality of metabolism/homeostasis	HP:0001939	HP:0004367	None
Abnormal scalp morphology	HP:0001965	None	Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows.
Cerebellar cyst	HP:0002350	None	None
Thyroid carcinoma	HP:0002890	None	The presence of a carcinoma of the thyroid gland.
Abnormality of hindbrain morphology	HP:0011282	None	An abnormality of the hindbrain, also known as the rhombencephalon.
Abnormal renal morphology	HP:0012210	HP:0008712	Any structural anomaly 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.
Oculomotor nerve palsy	HP:0012246	None	Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve).
Abnormal respiratory system morphology	HP:0012252	None	A structural anomaly of the respiratory system.
Abnormality of the mediastinum	HP:0045026	HP:0100722	None
Abnormality of the thoracic cavity	HP:0045027	None	None
Abnormal hypothalamus physiology	HP:0012285	None	An abnormal functionality of the hypothalamus.
Aplasia/hypoplasia involving bones of the extremities	HP:0045060	None	None
Fibrous tissue neoplasm	HP:0012316	None	Any neoplasm composed of fibrous tissue.
Hemianopia	HP:0012377	None	Partial or complete loss of vision in one half of the visual field of one or both eyes.
Abnormality of brain morphology	HP:0012443	None	A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.
Thick vermilion border	HP:0012471	None	Increased width of the skin of vermilion border region of upper lip.
Abnormality of the pituitary gland	HP:0012503	None	An anomaly of the pituitary gland.
Abnormal size of pituitary gland	HP:0012504	None	A deviation from the normal size of the pituitary gland.
Enlarged pituitary gland	HP:0012505	None	An abnormally increased size of the pituitary gland.
Abnormal circulating testosterone concentration	HP:0030087	None	An anomalous concentration of testosterone in the blood.
Pain in head and neck region	HP:0046506	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 the thyroid gland	HP:0000820	None	An abnormality of the thyroid gland.
Hypothyroidism	HP:0000821	HP:0008203	Deficiency of thyroid hormone.
Abnormality of body height	HP:0000002	None	Deviation from the norm of height with respect to that which is expected according to age and gender norms.
Thick lower lip vermilion	HP:0000179	HP:0000170	Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).
Thin vermilion border	HP:0000233	HP:0000213	Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).
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.
Coarse facial features	HP:0000280	HP:0004640	Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
Abnormality of the philtrum	HP:0000288	HP:0011216	An abnormality of the philtrum.
Broad philtrum	HP:0000289	None	Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum.
Abnormality of the forehead	HP:0000290	None	An anomaly of the forehead.
Low anterior hairline	HP:0000294	None	Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.
Abnormality of the orbital region	HP:0000315	HP:0000284	None
Hearing abnormality	HP:0000364	None	An abnormality of the sensory perception of sound.
Hearing impairment	HP:0000365	HP:0008563	A decreased magnitude of the sensory perception of sound.
Abnormality of the nose	HP:0000366	None	An abnormality of the nose.
Abnormal pharynx morphology	HP:0033151	None	A structural anomaly of the pharynx.
Abnormality of the nasal alae	HP:0000429	None	An abnormality of the Ala of nose.
Abnormality of the nasal tip	HP:0000436	None	An abnormality of the nasal tip.
Broad nasal tip	HP:0000455	HP:0005269	Increase in width of the nasal tip.
Anteverted nares	HP:0000463	HP:0000441	Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Abnormality of the eye	HP:0000478	None	Any abnormality of the eye, including location, spacing, and intraocular abnormalities.
Abnormal eyelid morphology	HP:0000492	HP:0000285	An abnormality of the eyelids.
Abnormality of eye movement	HP:0000496	HP:0006860	An abnormality in voluntary or involuntary eye movements or their control.
Abnormal eyelash morphology	HP:0000499	HP:0004530	An abnormality of the eyelashes.
Abnormality of vision	HP:0000504	None	Abnormality of eyesight (visual perception).
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.
Ptosis	HP:0000508	None	The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Proptosis	HP:0000520	HP:0007870	An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
Long eyelashes	HP:0000527	HP:0000500	Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).
Progressive visual loss	HP:0000529	HP:0007967	A reduction of previously attained ability to see.
Abnormal eyebrow morphology	HP:0000534	None	An abnormality of the eyebrow.
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.
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.
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).
Thick eyebrow	HP:0000574	HP:0004546	Increased density/number and/or increased diameter of eyebrow hairs.
Neuralgia	HP:0033345	None	Pain (An unpleasant sensory and emotional experience) along the course of a nerve.
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.
Ophthalmoparesis	HP:0000597	HP:0008044	Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement.
Abnormality of the ear	HP:0000598	None	An abnormality of the ear.
Abnormality of the frontal hairline	HP:0000599	None	An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not.
Abnormality of the pharynx	HP:0000600	None	An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly.
Ophthalmoplegia	HP:0000602	None	Paralysis of one or more extraocular muscles that are responsible for eye movements.
Blindness	HP:0000618	HP:0007839	Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation.
Brain imaging abnormality	HP:0410263	None	An anomaly of metabolism or structure of the brain identified by imaging.
Delayed eruption of teeth	HP:0000684	HP:0006328	Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.
Delayed eruption of permanent teeth	HP:0000696	None	Delayed tooth eruption affecting the secondary dentition.
Abnormality of the nervous system	HP:0000707	HP:0006987	An abnormality of the nervous system.
Emotional lability	HP:0000712	HP:0008766	Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or out of proportion to events and circumstances.
Aggressive behavior	HP:0000718	None	Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself.
Autistic behavior	HP:0000729	None	Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
Irritability	HP:0000737	None	A proneness to anger, i.e., a condition of being easily bothered or annoyed.
Delayed speech and language development	HP:0000750	HP:0007172	A degree of language development that is significantly below the norm for a child of a specified age.
Hyperactivity	HP:0000752	HP:0008764	Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate.
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).
Abnormality of the urethra	HP:0000795	None	An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body.
Impotence	HP:0000802	None	Inability to develop or maintain an erection of the penis.
Abnormal external genitalia	HP:0000811	None	None
Abnormality of the endocrine system	HP:0000818	None	An abnormality of the endocrine system.
Decreased response to growth hormone stimulation test	HP:0000824	HP:0008206	Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.
Anterior hypopituitarism	HP:0000830	None	A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.
Abnormality of the adrenal glands	HP:0000834	None	Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys.
Adrenal insufficiency	HP:0000846	HP:0008218	Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands.
Increased circulating prolactin concentration	HP:0000870	None	The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy.
Abnormality of the skeletal system	HP:0000924	None	An abnormality of the skeletal system.
Abnormality of the vertebral column	HP:0000925	None	Any abnormality of the vertebral column.
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.
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.
Abnormality of the skin	HP:0000951	HP:0007580	An abnormality of the skin.
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).
Hypertrichosis	HP:0000998	None	Hypertrichosis is increased hair growth that is abnormal in quantity or location.
Hirsutism	HP:0001007	None	Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).
Abnormal circulating sex hormone concentration	HP:0033799	None	Any deviation from the normal concentration of a sex hormone in the blood circulation
Neurofibromas	HP:0001067	HP:0007612	The presence of multiple cutaneous neurofibromas.
Papilledema	HP:0001085	HP:0001130	Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure.
Abnormal fundus morphology	HP:0001098	None	Any structural abnormality of the fundus of the eye.
Visual field defect	HP:0001123	None	None
Abnormality of the hand	HP:0001155	HP:0005858	An abnormality affecting one or both hands.
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.
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.
Papillary thyroid carcinoma	HP:0002895	None	The presence of a papillary adenocarcinoma of the thyroid gland.
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.
Gait disturbance	HP:0001288	HP:0006953	The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.
Generalized hypotonia	HP:0001290	None	Generalized muscular hypotonia (abnormally low muscle tone).
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.
Abnormal male reproductive system physiology	HP:0012874	None	An abnormal functionality of the male genital system.
Abnormal female reproductive system physiology	HP:0030012	None	None
Clinodactyly	HP:0030084	None	An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
Cerebellar vermis hypoplasia	HP:0001320	None	Underdevelopment of the vermis of cerebellum.
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.
Muscle weakness	HP:0001324	HP:0009061	Reduced strength of muscles.
Myoclonus	HP:0001336	HP:0007087	Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
Cerebral hemorrhage	HP:0001342	HP:0002137	Hemorrhage into the parenchyma of the brain.
Absent speech	HP:0001344	HP:0006798	Complete lack of development of speech and language abilities.
Limitation of joint mobility	HP:0001376	HP:0003101	A reduction in the freedom of movement of one or more joints.
Joint laxity	HP:0001388	HP:0002771	Lack of stability of a joint.
Abnormality of the liver	HP:0001392	None	An abnormality of the liver.
Somatic mutation	HP:0001428	None	A mode of inheritance in which a trait or disorder results from a de novo mutation occurring after conception, rather than being inherited from a preceding generation.
Growth delay	HP:0001510	HP:0008926	A deficiency or slowing down of growth pre- and postnatally.
Intrauterine growth retardation	HP:0001511	HP:0008931	An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Obesity	HP:0001513	None	Accumulation of substantial excess body fat.
Abnormality of the integument	HP:0001574	None	An abnormality of the integument, which consists of the skin and the superficial fascia.
Abnormal hair morphology	HP:0001595	None	An abnormality of the hair.
Abnormality of the nail	HP:0001597	None	Abnormality of the nail.
Abnormality of the cardiovascular system	HP:0001626	None	Any abnormality of the cardiovascular system.
Abnormal heart morphology	HP:0001627	HP:3000001	Any structural anomaly of the heart.
Atrial septal defect	HP:0001631	HP:0001630	Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Tetralogy of Fallot	HP:0001636	None	A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.
Abnormal cardiac septum morphology	HP:0001671	HP:0004760	An anomaly of the intra-atrial or intraventricular septum.
Neoplasm of the peripheral nervous system	HP:0100007	None	A benign or malignant neoplasm (tumour) of the peripheral nervous system.
Neoplasm of the central nervous system	HP:0100006	None	A neoplasm of the central nervous system.
Intracranial meningioma	HP:0100009	None	None
Schwannoma	HP:0100008	None	A benign nerve sheath tumor composed of Schwann cells.
Spinal meningioma	HP:0100010	None	None
Neoplasm of the liver	HP:0002896	None	A tumor (abnormal growth of tissue) of the liver.
Embryonal neoplasm	HP:0002898	None	None
Conotruncal defect	HP:0001710	None	A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle.
Abnormal cardiac ventricle morphology	HP:0001713	None	An abnormality of a cardiac ventricle.
Cerebral palsy	HP:0100021	None	Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems.
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.
Neoplasm of the thyroid gland	HP:0100031	None	A tumor (abnormal growth of tissue) of the thyroid gland.
Abnormal facial shape	HP:0001999	HP:0005124	An abnormal morphology (form) of the face or its components.
Morphological central nervous system abnormality	HP:0002011	HP:0007319	A structural abnormality of the central nervous system.
Abnormality of the abdominal organs	HP:0002012	None	An abnormality of the viscera of the abdomen.
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.
Abnormality of the respiratory system	HP:0002086	None	An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.
Abnormality of the upper respiratory tract	HP:0002087	None	An abnormality of the upper respiratory tract.
Abnormal lung morphology	HP:0002088	None	Any structural anomaly of the lung.
Pneumonia	HP:0002090	None	Inflammation of any part of the lung parenchyma.
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.
Abnormality of the spinal cord	HP:0002143	None	An abnormality of the spinal cord (myelon).
Neurological speech impairment	HP:0002167	None	None
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.
Recurrent respiratory infections	HP:0002205	HP:0002873	An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Sparse scalp hair	HP:0002209	HP:0004782	Decreased number of hairs per unit area of skin of the scalp.
Cognitive impairment	HP:0100543	HP:0007211	Abnormal cognition with deficits in thinking, reasoning, or remembering.
Abnormal localization of kidney	HP:0100542	None	An abnormal site of the kidney.
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.
Neoplasm of the endocrine system	HP:0100568	None	A tumor (abnormal growth of tissue) of the endocrine system.
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.
Abnormal cerebellar vermis morphology	HP:0002334	None	An anomaly of the vermis of cerebellum.
Lower limb muscle weakness	HP:0007340	HP:0009047	Weakness of the muscles of the legs.
Intellectual disability, moderate	HP:0002342	HP:0007303	Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.
Neoplasm of the oral cavity	HP:0100649	None	A tumor (abnormal growth of tissue) of the oral cavity.
Neoplasm of the tongue	HP:0100648	None	A tumor (abnormal growth of tissue) of the tongue.
Abnormal cerebral vascular morphology	HP:0100659	None	An anomaly of the cerebral blood vessels.
Memory impairment	HP:0002354	HP:0002081	An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.
Difficulty walking	HP:0002355	HP:0009030	Reduced ability to walk (ambulate).
Trigeminal neuralgia	HP:0100661	None	A neuropathic disorder characterized by episodes of intense pain in the face, originating from the trigeminal nerve. One, two, or all three branches of the nerve may be affected.
Sleep disturbance	HP:0002360	None	An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness.
Abnormal brainstem morphology	HP:0002363	None	An anomaly of the brainstem.
Abnormal eating behavior	HP:0100738	None	Abnormal eating habit with excessive or insufficient consumption of food or any other abnormal pattern of food consumption.
Cerebellar malformation	HP:0002438	None	None
Hernia	HP:0100790	None	None
Abnormal cerebral white matter morphology	HP:0002500	HP:0200100	An abnormality of the cerebral white matter.
Brain stem compression	HP:0002512	None	None
Cerebral calcification	HP:0002514	HP:0006848	The presence of calcium deposition within brain structures.
Increased intracranial pressure	HP:0002516	None	An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.
Benign neoplasm of the central nervous system	HP:0100835	None	None
Malignant neoplasm of the central nervous system	HP:0100836	None	A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns.
Abnormal cortical gyration	HP:0002536	HP:0006900	An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain.
Abnormal cerebral cortex morphology	HP:0002538	None	Any structural abnormality of the cerebral cortex.
Abnormal emotion/affect behavior	HP:0100851	None	An abnormality of emotional behaviour.
Abnormality of globe location	HP:0100886	None	An abnormality in the placement of the ocular globe (eyeball).
Abnormality of the vasculature	HP:0002597	None	An abnormality of the vasculature.
Scoliosis	HP:0002650	HP:0003415	The presence of an abnormal lateral curvature of the spine.
Neoplasm	HP:0002664	HP:0006741	An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour).
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.
Abnormality of the immune system	HP:0002715	HP:0010986	An abnormality of the immune system.
Recurrent infections	HP:0002719	HP:0005405	Increased susceptibility to infections.
Delayed skeletal maturation	HP:0002750	HP:0002806	A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Recurrent upper respiratory tract infections	HP:0002788	HP:0002784	An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
Abnormal respiratory system physiology	HP:0002795	None	None
Abnormality of limb bone morphology	HP:0002813	None	Any abnormality of bones of the arms or legs.
Abnormality of the upper limb	HP:0002817	HP:0003838	An abnormality of the arm.
Meningioma	HP:0002858	HP:0006754	The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.
Hepatoblastoma	HP:0002884	None	A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts.
Decreased circulating ACTH level	HP:0002920	None	An abnormal reduction in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.
Abnormality of the cerebrospinal fluid	HP:0002921	None	An abnormality of the cerebrospinal fluid (CSF).
Abnormality of thyroid physiology	HP:0002926	None	An abnormal functionality of the thyroid gland.
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.
Abnormal circulating hormone concentration	HP:0003117	None	An abnormal concentration of a hormone in the blood.
Abnormality of chromosome stability	HP:0003220	HP:0008307	A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration.
Back pain	HP:0003418	None	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.
Upper limb muscle weakness	HP:0003484	None	Weakness of the muscles of the arms.
Abnormality of connective tissue	HP:0003549	None	Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat).
Limb muscle weakness	HP:0003690	HP:0002534	Reduced strength and weakness of the muscles of the arms and legs.
Skeletal muscle hypertrophy	HP:0003712	None	Hypertrophy (increase in size) of muscle cells (as opposed to hyperplasia, which refers to an increase in the number of muscle cells).
Myoclonic spasms	HP:0003739	HP:0006963	None
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 5th finger morphology	HP:0004207	None	An abnormality affecting one or both 5th fingers.
Functional motor deficit	HP:0004302	None	None
Involuntary movements	HP:0004305	HP:0007120	Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.
Abnormality of body weight	HP:0004323	HP:0010718	An abnormal increase or decrease of weight or an abnormal distribution of mass in the body.
Increased body weight	HP:0004324	HP:0045083	Abnormally increased body weight.
Abnormal posterior eye segment morphology	HP:0004329	None	None
Reduced consciousness/confusion	HP:0004372	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.
Neoplasm of the nervous system	HP:0004375	None	A tumor (abnormal growth of tissue) of the nervous system.
Abnormality of the sense of smell	HP:0004408	HP:0004410	An anomaly in the ability to perceive and distinguish scents (odors).
Abnormal nasal morphology	HP:0005105	None	None
Abnormal cardiac atrium morphology	HP:0005120	None	Any structural abnormality of a cardiac atrium.
Depressed nasal bridge	HP:0005280	HP:0005284	Posterior positioning of the nasal root in relation to the overall facial profile for age.
Abnormality of the nares	HP:0005288	None	Abnormality of the nostril.
Enlarged posterior fossa	HP:0005445	None	Abnormal increased size of the posterior cranial fossa.
Abnormal finger phalanx morphology	HP:0005918	HP:0006259	Abnormalities affecting the phalanx of finger.
Abnormal hand morphology	HP:0005922	HP:0003098	Any structural anomaly of the hand.
Aplasia/hypoplasia involving bones of the hand	HP:0005927	None	Absence (due to failure to form) or underdevelopment of the bones of the hand.
Decreased pulmonary function	HP:0005952	None	None
Aplasia/Hypoplasia of the 5th finger	HP:0006262	None	A small/hypoplastic or absent/aplastic 5th finger.
Aplasia/Hypoplasia of fingers	HP:0006265	None	Small/hypoplastic or absent/aplastic fingers.
Abnormality of dental eruption	HP:0006292	None	An abnormality of tooth eruption.
Aplasia/hypoplasia involving bones of the upper limbs	HP:0006496	None	Absence (due to failure to form) or underdevelopment of the bones of the upper limbs.
Progressive pulmonary function impairment	HP:0006520	None	None
Cranial nerve paralysis	HP:0006824	HP:0002377	None
Abnormal aggressive, impulsive or violent behavior	HP:0006919	None	None
Abnormality of limbs	HP:0040064	None	None
Abnormality of limb bone	HP:0040068	None	None
Hypopituitarism	HP:0040075	None	None
Abnormal prolactin level	HP:0040086	None	None
Focal-onset seizure	HP:0007359	HP:0040168	A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.
Aplasia/Hypoplasia of the cerebellum	HP:0007360	HP:0007368	None
Aplasia/Hypoplasia of the corpus callosum	HP:0007370	HP:0007137	Absence or underdevelopment of the corpus callosum.
Abnormal choroid plexus morphology	HP:0007376	None	An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells.
Neoplasm of the gastrointestinal tract	HP:0007378	None	A tumor (abnormal growth of tissue) of the gastrointestinal tract.
Decreased serum testosterone concentration	HP:0040171	HP:0008230	None
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.
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 consumption behavior	HP:0040202	None	None
Neoplasm of the pituitary gland	HP:0040277	None	None
Male sexual dysfunction	HP:0040307	None	A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity
Reduced visual acuity	HP:0007663	HP:0008008	None
Weak extraocular muscles	HP:0007715	None	None
Slow decrease in visual acuity	HP:0007924	HP:0007652	None
Neoplasm of the skin	HP:0008069	None	A tumor (abnormal growth of tissue) of the skin.
Sparse hair	HP:0008070	HP:0004874	Reduced density of hairs.
Decreased circulating cortisol level	HP:0008163	HP:0008220	Abnormally reduced concentration of cortisol in the blood.
Reduced circulating prolactin concentration	HP:0008202	None	A reduced level of prolactin in the blood circulation. Prolactin is a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production.
Primary adrenal insufficiency	HP:0008207	HP:0008252	Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves.
Decreased serum estradiol	HP:0008214	None	A reduction below normal concentration of estradiol in the circulation.
Hypothalamic hypothyroidism	HP:0008237	None	A type of hypothyroidism that results from a defect in thyrotropin-releasing hormone activity.
Secondary growth hormone deficiency	HP:0008240	None	None
Pituitary hypothyroidism	HP:0008245	HP:0008248	A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion.
Puberty and gonadal disorders	HP:0008373	HP:0000827	None
Aplasia/Hypoplasia of the nails	HP:0008386	HP:0008385	Aplasia or developmental hypoplasia of the nail.
Abnormal toenail morphology	HP:0008388	None	An anomaly of the toenail.
Hypoplastic fifth fingernail	HP:0008398	HP:0200103	A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger.
Abnormal vascular morphology	HP:0025015	None	None
Abnormality of the digestive system	HP:0025031	None	None
Abnormality of digestive system physiology	HP:0025032	None	A functional anomaly of the digestive system.
Abnormal circulating estrogen level	HP:0025132	None	A deviation from normal concentration of the hormone estrogen in the blood circulation.
Abnormal serum estradiol	HP:0025133	None	A deviation from normal concentrations of estradiol in the circulation.
Constitutional symptom	HP:0025142	None	A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual.
Postnatal growth retardation	HP:0008897	HP:0008918	Slow or limited growth after birth.
Infantile muscular hypotonia	HP:0008947	HP:0010572	Muscular hypotonia (abnormally low muscle tone) manifesting in infancy.
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.
Abnormality of the musculature of the limbs	HP:0009127	None	None
Short finger	HP:0009381	HP:0006015	Abnormally short finger associated with developmental hypoplasia.
Aplasia/Hypoplasia of the phalanges of the hand	HP:0009767	HP:0009801	Small or missing phalangeal bones of the fingers of the hand.
Aplasia/hypoplasia of the extremities	HP:0009815	HP:0006497	Absence (due to failure to form) or underdevelopment of the extremities.
Abnormal distal phalanx morphology of finger	HP:0009832	HP:0005919	Any anomaly of distal phalanx of finger.
Aplasia/Hypoplasia of the distal phalanges of the hand	HP:0009835	HP:0006235	Absence or underdevelopment of the distal phalanges.
Simplified gyral pattern	HP:0009879	None	An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly.
Thick nasal alae	HP:0009928	None	Increase in bulk of the ala nasi.
Spinal cord tumor	HP:0010302	HP:0009712	A neoplasm affecting the spinal cord.
Abnormal ventricular septum morphology	HP:0010438	HP:0001628	A structural abnormality of the interventricular septum.
Abnormality of the male genitalia	HP:0010461	None	Abnormality of the male genital system.
Hyperpituitarism	HP:0010514	None	Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma.
Transient global amnesia	HP:0010534	None	A paroxysmal, transient loss of memory function with preservation of immediate recall and remote memory but with a severe impairment of memory for recent events and ability to retain new information.
Intracranial cystic lesion	HP:0010576	None	A cystic lesion originating within the brain.
Aplastic/hypoplastic toenail	HP:0010624	HP:0008389	Absence or underdevelopment of the toenail.
Facial palsy	HP:0010628	HP:0200004	Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.
Abnormality of the diencephalon	HP:0010662	None	An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain.
Abnormality of thalamus morphology	HP:0010663	None	An abnormality of the thalamus.
Abnormality of the curvature of the vertebral column	HP:0010674	None	The presence of an abnormal curvature of the vertebral column.
Abnormal hair pattern	HP:0010720	None	An abnormality of the distribution of hair growth.
Ectopic calcification	HP:0010766	None	Deposition of calcium salts in a tissue or location in which calcification does not normally occur.
Abnormality of the seventh cranial nerve	HP:0010827	None	Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve.
Hemifacial spasm	HP:0010828	None	Intermittent clonic or tonic contraction of muscles supplied by facial nerve. Muscles are relaxed in between contractions.
Intellectual disability, severe	HP:0010864	HP:0007196	Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
Abnormality of the upper urinary tract	HP:0010935	None	An abnormality of the upper urinary tract.
Abnormality of the lower urinary tract	HP:0010936	None	An abnormality of the lower urinary tract.
Abnormality of the external nose	HP:0010938	None	An abnormality of the external nose.
Abnormal fourth ventricle morphology	HP:0010950	None	An abnormality of the fourth ventricle.
Abnormality of immune system physiology	HP:0010978	None	A functional abnormality of the immune system.
Abnormality of the cerebral subcortex	HP:0010993	None	An abnormality of the cerebral subcortex.
Chromosomal breakage induced by ionizing radiation	HP:0010997	None	Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation.
Abnormal cellular physiology	HP:0011017	HP:0025462	An abnormality in a cellular process.
Abnormality of the gastrointestinal tract	HP:0011024	None	An abnormality of the gastrointestinal tract.
Abnormal cardiovascular system physiology	HP:0011025	None	Abnormal functionality of the cardiovascular system.
Abnormality of blood circulation	HP:0011028	None	An abnormality of blood circulation.
Internal hemorrhage	HP:0011029	None	The presence of hemorrhage within the body.
Abnormality of circulating adrenocorticotropin level	HP:0011043	None	An abnormal concentration of corticotropin in the blood.
Increased sensitivity to ionizing radiation	HP:0011133	None	An abnormally increased sensitivity to the effects of ionizing radiation.
Prominent eyelashes	HP:0011231	None	Eyelashes that draw the attention of the viewer due to increased density and/or length and/or curl without meeting the criteria of trichomegaly.
Abnormal eye morphology	HP:0012372	HP:0012374	A structural anomaly of the globe of the eye, or bulbus oculi.
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.
Abnormal digit morphology	HP:0011297	None	A morphological abnormality of a digit, i.e., of a finger or toe.
Abnormality of mouth size	HP:0011337	None	None
Abnormality of upper lip vermillion	HP:0011339	None	An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin.
Congenital abnormal hair pattern	HP:0011361	None	A congenital abnormality of the distribution of hair growth.
Abnormal hair quantity	HP:0011362	HP:0011357	An abnormal amount of hair.
Abnormal central motor function	HP:0011442	None	An anomaly of the control or production of movement in the central nervous system.
Abnormality of coordination	HP:0011443	None	None
Abnormality of higher mental function	HP:0011446	None	Cognitive, psychiatric or memory anomaly.
Abdominal symptom	HP:0011458	None	A subjective manifestation of disease localized to the abdomen.
Abnormal connection of the cardiac segments	HP:0011545	None	A deviance in the normal connections between two cardiac segements.
Abnormal ventriculoarterial connection	HP:0011563	None	An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta.
Congenital malformation of the great arteries	HP:0011603	None	Defect or defects of the morphogenesis of the aorta and pulmonary arteries.
Abnormality of joint mobility	HP:0011729	None	An abnormality in the range and ease of motion of joints across their normal range.
Abnormal central sensory function	HP:0011730	None	An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord.
Abnormality of circulating cortisol level	HP:0011731	None	An abnormality of the concentration of cortisol in the blood.
Abnormality of adrenal physiology	HP:0011733	HP:0002855	A functional abnormality of the adrenal glands.
Abnormality of the anterior pituitary	HP:0011747	None	An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.
Neoplasm of the anterior pituitary	HP:0011750	None	A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.
Abnormality of the posterior pituitary	HP:0011751	None	An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis.
Neoplasm of the posterior pituitary	HP:0011752	None	The presence of a neoplasm (tumour) in the neurohypophysis, which is also known as the posterior lobe of the hypophysis.
Abnormal thyroid morphology	HP:0011772	None	A structural abnormality of the thyroid gland.
Central hypothyroidism	HP:0011787	None	A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects.
Neoplasm by histology	HP:0011792	None	Neoplasm categorized according to type of histological abnormality.
Neoplasm by anatomical site	HP:0011793	None	Neoplasm categorized according to the anatomical site of origin of the neoplasm.
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.
Abnormality of musculoskeletal physiology	HP:0011843	None	An abnormality of the function 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.
Short digit	HP:0011927	None	One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened.
Hypoplastic fifth toenail	HP:0011937	None	Underdeveloped nails of the fifth toes.
Respiratory tract infection	HP:0011947	None	An infection of the upper or lower respiratory tract.
Aspiration pneumonia	HP:0011951	None	Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract.
Feeding difficulties	HP:0011968	None	Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Abnormal atrial septum morphology	HP:0011994	None	An abnormality of the interatrial septum.
Abnormality of circulating glucocorticoid level	HP:0012111	None	An abnormality of the concentration of a glucocorticoid in the blood.
Abnormal eye physiology	HP:0012373	None	A functional anomaly of the eye.
Functional abnormality of the bladder	HP:0000009	HP:0008731	Dysfunction of the urinary bladder.
Abnormality of the bladder	HP:0000014	None	An abnormality of the urinary bladder.
Urinary incontinence	HP:0000020	HP:0008681	Loss of the ability to control the urinary bladder leading to involuntary urination.
Abnormality of male external genitalia	HP:0000032	None	An abnormality of male external genitalia.
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.
Hypogonadotropic hypogonadism	HP:0000044	HP:0008224	Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).
Hypospadias	HP:0000047	None	Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
Abnormality of the kidney	HP:0000077	None	An abnormality of the kidney.
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.
Abnormality of reproductive system physiology	HP:0000080	None	An abnormal functionality of the genital system.
Horseshoe kidney	HP:0000085	None	A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.
Abnormality of the genitourinary system	HP:0000119	HP:0008713	The presence of any abnormality of the genitourinary system.
Hypogonadism	HP:0000135	None	A decreased functionality of the gonad.
Abnormality of the menstrual cycle	HP:0000140	None	An abnormality of the ovulation cycle.
Aplasia/Hypoplasia of the cerebrum	HP:0007364	None	None
Abnormal circulating luteinizing hormone concentration	HP:0030345	None	An anomaly of the circulating level of luteinizing hormone (LH).
Abnormal circulating follicle-stimulating hormone concentration	HP:0030346	None	An anomaly of the circulating level of follicle-stimulating hormone (FSH).
Abnormal circulating androgen level	HP:0030347	None	An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.
Soft tissue sarcoma	HP:0030448	None	A type of sarcoma (A connective tissue neoplasm formed by proliferation of mesodermal cells) that develops from soft tissues like fat, muscle, nerves, fibrous tissues, blood vessels, or deep skin tissues.
Bitemporal hemianopia	HP:0030521	None	None
Visual acuity test abnormality	HP:0030532	None	None
Abnormal visual field test	HP:0030588	None	Abnormal result of a test designed to test an individual's central and peripheral vision by determining the ability of the individual to perceive objects at differing locations of the visual field.
Abnormal kinetic perimetry test	HP:0030591	None	None
Abnormal ocular adnexa morphology	HP:0030669	None	A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.
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.
Ear pain	HP:0030766	None	Pain in the ear can be a consequence of otologic disease (primary or otogenic otalgia), or can arise from pathologic processes and structures other than the ear (secondary or referred otalgia).
Abnormal tongue morphology	HP:0030809	None	Any structural anomaly of the tongue.
Abnormality on pulmonary function testing	HP:0030878	HP:0032340	Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography.
Abnormal morphology of the great vessels	HP:0030962	None	A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta.
Impairment of activities of daily living	HP:0031058	None	Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure.
Impaired continence	HP:0031064	None	Partial or total incontinence of bowel or bladder.
Impairment in personality functioning	HP:0031466	None	A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning.
Abnormal ear physiology	HP:0031704	None	Any functional anomaly of the ear.
Abnormal oral morphology	HP:0031816	None	Any structural anomaly of the mouth, which is also known as the oral cavity.
Abnormal cranial nerve physiology	HP:0031910	None	A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.
Abnormal fifth cranial nerve physiology	HP:0031911	None	None
Abnormality of the ocular adnexa	HP:0032039	None	An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.
Abnormal male urethral meatus morphology	HP:0032076	None	None
Unusual infection	HP:0032101	None	A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections.
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.
Nausea and vomiting	HP:0002017	None	Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.
Short 5th finger	HP:0009237	HP:0005888	Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger.
Abnormality of the hairline	HP:0009553	None	The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair.
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.
Abnormality of skin adnexa morphology	HP:0011138	None	An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands.
Abnormal circulating gonadotropin concentration	HP:0030338	None	An anomaly of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH).
Choroid plexus carcinoma	HP:0030392	None	Intraventricular papillary neoplasm derived from choroid plexus epithelium. Plexus tumors are most common in the lateral and fourth ventricles; while 80% of lateral ventricle tumors present in children, fourth ventricle tumors are evenly distributed in all age groups. Clinically, choroid plexus tumors tend to cause hydrocephalus and increased intracranial pressure. Histologically, choroid plexus papillomas correspond to WHO grade I, choroid plexus carcinomas to WHO grade III.
Abnormal growth hormone level	HP:0032367	None	Any deviation from the normal level of growth hormone (GH) in the blood circulation. GH or somatotropin is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration. Its secretion from the pituitary is regulated by the neurosecretory nuclei of the hypothalamus, which can release Growth hormone-releasing hormone (GHRH or somatocrinin) and Growth hormone-inhibiting hormone (GHIH or somatostatin) into the hypophyseal portal venous blood surrounding the pituitary. GH is secreted in a pulsatile manner, which is one of the reasons why an isolated measurement of its blood concentration is not meaningful.
Oral aversion	HP:0012523	None	Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing).
Pain	HP:0012531	None	An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.
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.
Abnormality of intracranial pressure	HP:0012640	None	A deviation from the norm of the intracranial pressure.
Abnormal inflammatory response	HP:0012647	None	Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.
Increased inflammatory response	HP:0012649	None	A abnormal increase in the inflammatory response to injury or infection.
Decreased circulating gonadotropin concentration	HP:0030339	None	A reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH).
Decreased circulating follicle stimulating hormone concentration	HP:0030341	None	A reduction of the circulating level of follicle-stimulating hormone (FSH).
Decreased circulating luteinizing hormone level	HP:0030344	None	A reduction in the circulating level of luteinizing hormone (LH).
Heteronymous hemianopia	HP:0030517	None	None
Displacement of the urethral meatus	HP:0100627	None	A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina).
Aplasia/Hypoplasia of the cerebellar vermis	HP:0006817	HP:0007080	Absence or underdevelopment of the vermis of cerebellum.
Chromosome breakage	HP:0040012	None	Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents.
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.
Medulloblastoma	HP:0002885	None	A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults.
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.
Tinnitus	HP:0000360	None	Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.
Abnormal nasal bridge morphology	HP:0000422	HP:0000423	Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi.
Behavioral abnormality	HP:0000708	HP:0002456	An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.
Diminished motivation	HP:0000745	None	A reduction in goal-directed behavior, that is, motivation, the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action.
Abnormality of the hypothalamus-pituitary axis	HP:0000864	HP:0000844	Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit.
Abnormality of facial musculature	HP:0000301	None	An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve).
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.
Wide nose	HP:0000445	HP:0000438	Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.
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 skeletal maturation	HP:0000927	None	The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation.
Syncope	HP:0001279	None	Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.
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.
Ventricular septal defect	HP:0001629	HP:0001652	A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Patent ductus arteriosus	HP:0001643	None	In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Erectile dysfunction	HP:0100639	None	A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological.
Language impairment	HP:0002463	None	Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations.
Short nose	HP:0003196	HP:0200092	Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Short stature	HP:0004322	HP:0008913	A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Abnormal cellular phenotype	HP:0025354	None	An anomaly of cellular morphology or physiology.
Aplasia/hypoplasia involving the skeleton	HP:0009115	None	Absence (due to failure to form) or underdevelopment of one or more components of the skeleton.
Fibroma	HP:0010614	None	Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term \"fibroblastic\" or \"fibromatous\" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors.
Decreased circulating androgen concentration	HP:0030349	None	A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.