| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| HP:0000020 | Urinary incontinence | "Loss of the ability to control the urinary bladder leading to involuntary urination." [HPO:sdoelken] |
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| HP:0000023 | Inguinal hernia | |
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| HP:0000028 | Cryptorchidism | "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 testis." [HPO:curators] |
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| HP:0000077 | Abnormality of the kidneys | "An abnormality of the kidneys, the paired organs whose primary function is the production of urine." [HPO:curators] |
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| HP:0000169 | Gingival fibromatosis | "Gingival fibromatosis is characterized by a slowly progressive benign enlargement of the oral gingival tissues. The condition results in the teeth being partially or totally engulfed by keratinized gingiva, causing aesthetic and functional problems. Both genetic and pharmacologically induced forms of gingival fibromatosis are known. The most common genetic form, hereditary gingival fibromatosis (HGF), is usually transmitted as an autosomal dominant trait, although sporadic cases are common and autosomal recessive inheritance has been reported." [HPO:curators] |
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| HP:0000218 | High palate | "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428] |
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| HP:0000268 | Dolichocephaly | |
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| HP:0000272 | Malar hypoplasia | "Underdeveloped midface region." [HPO:curators] |
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| HP:0000275 | Narrow face | |
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| HP:0000286 | Epicanthus | "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators] |
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| HP:0000316 | Hypertelorism | |
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| HP:0000319 | Flat philtrum | |
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| HP:0000343 | Long philtrum | |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000358 | Posteriorly rotated ears | "A type of `abnormal location of the ears` (HP:0000357) 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)." [HPO:probinson] |
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| HP:0000369 | Low-set ears | "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators] |
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| HP:0000405 | Hearing loss, conductive | |
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| HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| HP:0000413 | External auditory canal atresia | "Absence or failure to form of the external auditory canal." [HPO:curators] |
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| HP:0000470 | Short neck | |
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| HP:0000478 | Abnormality of the eyes | "Any abnormality of the `eyes` (FMA:54448), including location, spacing, and intraocular abnormalities." [HPO:curators] |
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| HP:0000494 | Downward slanting palpebral fissures | |
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| HP:0000505 | Impaired vision | |
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| HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
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| HP:0000512 | Abnormal electroretinogram | "Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography." [HPO:curators] |
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| HP:0000520 | Proptosis | |
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| HP:0000572 | Visual loss | |
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| HP:0000612 | Iris coloboma | "A `coloboma` (HP:0000589) of the `iris` (FMA:58235)." [HPO:probinson] |
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| HP:0000649 | Abnormality of vision evoked potentials | |
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| HP:0000678 | Dental overcrowding | |
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| HP:0000708 | Behavioural/Psychiatric Abnormality | |
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| HP:0000716 | Depression | "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators] |
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| HP:0000726 | Dementia | |
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| HP:0000763 | Sensory neuropathy | "Peripheral neuropathy affecting primarily the sensory nerves." [HPO:curators] |
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| HP:0000765 | Abnormality of the thorax | "Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs)." [HPO:curators] |
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| HP:0000767 | Pectus excavatum | "A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance." [HPO:curators] |
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| HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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| HP:0000929 | Abnormality of the skull | "An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones." [HPO:curators] |
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| HP:0000934 | Chondrocalcinosis | |
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| HP:0000944 | Abnormality of the metaphyses | |
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| HP:0000951 | Abnormality of the skin | "An abnormality of the `skin` (FMA:7163)." [HPO:probinson] |
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| HP:0001136 | Retinal arteriolar tortuosity | |
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| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| HP:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] |
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| HP:0001257 | Spasticity | "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators] |
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| HP:0001259 | Coma | |
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| HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
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| HP:0001270 | Motor retardation | |
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| HP:0001288 | Gait disturbance | "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." [HPO:curators] |
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| HP:0001289 | Confusion | "Lack of clarity and coherence of thought, perception, understanding, or action." [HPO:curators] |
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| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001297 | Stroke | |
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| HP:0001376 | Decreased mobility of joints | |
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| HP:0001382 | Joint hypermobility | "The ability of a joint to move beyond its normal range of motion." [HPO:curators] |
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| HP:0001482 | Subcutaneous nodules | |
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| HP:0001537 | Umbilical hernia | "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [HPO:curators] |
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| HP:0001547 | Abnormality of the morphology or size of the rib cage | |
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| HP:0001595 | Hair abnormality | |
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| HP:0001629 | Ventricular septal defect | "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators] |
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| HP:0001643 | Patent ductus arteriosus | |
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| HP:0001647 | Bicuspid aortic valve | "The presence of a bicuspid `aortic valve` (FMA:7236)." [HPO:probinson] |
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| HP:0001933 | Subcutaneous hemorrhage | |
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| HP:0001943 | Hypoglycemia | "A lower than normal level of blood glucose." [HPO:curators] |
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| HP:0001945 | Fever | |
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| HP:0002071 | Extrapyramidal signs | |
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| HP:0002076 | Migraine | |
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| HP:0002120 | Cerebral cortical atrophy | |
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| HP:0002162 | Low posterior hairline | |
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| HP:0002208 | Coarse hair | |
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| HP:0002301 | Hemiplegia | "Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body." [HPO:curators] |
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| HP:0002308 | Arnold-Chiari malformation | "Arnold-Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow." [HPO:curators] |
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| HP:0002352 | Leukoencephalopathy | |
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| HP:0002353 | EEG abnormalities | "Abnormality observed by electroencephalogram (EEG), which is used to record of the brain s spontaneous electrical activity from multiple electrodes placed on the scalp." [HPO:curators] |
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| HP:0002354 | Memory impairment | |
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| HP:0002376 | Developmental regression | |
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| HP:0002381 | Aphasia | |
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| HP:0002435 | Meningocele | |
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| HP:0002575 | Tracheoesophageal fistula | "An abnormal connection (fistula) between the esophagus and the trachea." [HPO:curators] |
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| HP:0002619 | Varicose veins | |
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| HP:0002621 | Atherosclerosis | "A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow." [HPO:curators] |
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| HP:0002637 | Cerebral ischemia | |
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| HP:0002645 | Wormian bones | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002691 | Platybasia | |
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| HP:0002694 | Sclerotic skull base | |
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| HP:0002705 | High, narrow palate | "The presence of a high and narrow palate." [HPO:curators] |
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| HP:0002797 | Osteolysis | |
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| HP:0002808 | Kyphosis | |
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| HP:0002894 | Pancreatic cancer | |
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| HP:0002948 | Vertebral fusion | "A developmental defect leading to the union of two adjacent vertebrae." [HPO:curators] |
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| HP:0003011 | Abnormality of musculature | "Abnormality originating in one or more muscles." [HPO:curators] |
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| HP:0003072 | Hypercalcemia | "A level of blood calcium that is higher than normal." [HPO:curators] |
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| HP:0003194 | Short nasal bridge | |
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| HP:0003236 | Elevated serum creatine phosphokinase | |
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| HP:0003307 | Hyperlordosis | |
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| HP:0003312 | Abnormal form of the vertebral bodies | |
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| HP:0003396 | Syringomyelia | |
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| HP:0003581 | Onset in adulthood | |
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| HP:0004322 | Decreased body height | "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)." [HPO:curators] |
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| HP:0004374 | Hemiplegia/hemiparesis | "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." [HPO:curators] |
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| HP:0004452 | Abnormality of the middle ear ossicles | "An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea)." [HPO:curators] |
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| HP:0004493 | Craniofacial hyperostosis | "Hyperostosis refers to a localized bone overgrowth process (as opposed to sclerosis, which refers to a generalized disturbance with increased bone density). This term is used for excessive growth of the craniofacial bones." [HPO:curators] |
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| HP:0004586 | Biconcave vertebral bodies | |
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| HP:0005107 | Abnormality of the sacrum | |
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| HP:0005214 | Intestinal obstruction | |
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| HP:0005487 | Prominent metopic suture | "A prominent persistent frontal suture (metopic suture)." [HPO:curators] |
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| HP:0005692 | Joint hyperflexibility | |
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| HP:0006532 | Pneumonia, recurrent episodes | |
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| HP:0006824 | Cranial nerve paralysis | |
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| HP:0007024 | Pseudobulbar paralysis | "Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by `Pseudobulbar behavioral symptoms` (HP:0002193) such as enforced crying and laughing." [HPO:sdoelken] |
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| HP:0007099 | Arnold-Chiari type I malformation | "Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle." [HPO:curators] |
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| HP:0007123 | Subcortical dementia, progressive | |
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| HP:0007236 | Recurrent subcortical infarcts | |
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| HP:0007328 | Decreased pain sensation | "Reduced ability to perceive painful stimuli." [HPO:curators] |
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| HP:0007400 | Irregular hyperpigmentation | |
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| HP:0007634 | Nonarteritic anterior ischemic optic neuropathy | |
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| HP:0008069 | Neoplasia of the skin | |
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| HP:0009830 | Peripheral neuropathy | "Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course." [HPO:curators] |
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| HP:0012062 | Bone cyst | "A fluid filled cavity that develops with a bone." [HPO:probinson] |
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| HP:0100309 | Subdural hemorrhage | "`Hemorrhage` (MPATH:119) occurring between the `dura mater` (FMA:9592) and the `arachnoid mater` (FMA:9591)." [HPO:sdoelken] |
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| HP:0100526 | Neoplasia of the lungs | |
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| HP:0100576 | Amaurosis fugax | "A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition." [HPO:sdoelken] |
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| HP:0100702 | Arachnoid cyst | "Arachnoid cysts are filled with cerebrospinal fluid encased by arachnoidal cells." [HPO:sdoelken] |
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| HP:0100775 | Dural ectasia | "A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level." [HPO:sdoelken] |
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| HP:0100835 | Benign neoplasm of the central nervous system | |
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| HP:0200042 | skin ulcer | "A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat." [HPO:SKOEHLER] |
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