| 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:0000233 | Thin vermillion border | |
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| HP:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
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| HP:0000272 | Malar hypoplasia | "Underdeveloped midface region." [HPO:curators] |
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| HP:0000375 | Abnormality of cochlea | "An abnormality of the cochlea, which is an inner ear structure comprised of a snail-shell like structure divided into three fluid-filled parts. Two are canals for the transmission of pressure and in the third is the organ of Corti, which detects pressure impulses and responds with electrical impulses which travel along the auditory nerve to the brain." [HPO:curators] |
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| HP:0000400 | Large ears | |
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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:0000411 | Protruding ears | |
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| HP:0000446 | Narrow nasal bridge | |
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| HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
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| HP:0000490 | Deep set eyes | |
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| HP:0000501 | Glaucoma | "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:curators] |
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| HP:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
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| HP:0000532 | Chorioretinal abnormality | |
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| HP:0000541 | Detached retina | |
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| HP:0000568 | Microphthalmos | "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators] |
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| HP:0000593 | Abnormality of the anterior chamber | "Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris." [HPO:curators] |
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| HP:0000594 | Shallow anterior chamber | |
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| HP:0000601 | Hypotelorism | |
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| HP:0000615 | Abnormality of the pupils | |
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| HP:0000618 | Blindness | |
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| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
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| HP:0000647 | Sclerocornea | |
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| HP:0000648 | Optic atrophy | |
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| HP:0000709 | Psychosis | "A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs." [HPO:curators] |
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| HP:0000717 | Autism | |
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| HP:0000718 | Aggressive behavior | "Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself." [HPO:curators] |
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| HP:0000726 | Dementia | |
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| HP:0000733 | Stereotyped, repetitive behaviour | |
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| HP:0000737 | Irritability | |
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| HP:0000738 | Hallucinations | |
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| HP:0000739 | Anxiety | |
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| HP:0000819 | Diabetes mellitus | |
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| HP:0000823 | Delayed puberty | |
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| HP:0001083 | Ectopia lentis | |
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| HP:0001103 | Abnormality of the macula | |
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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:0001276 | Hypertonia | |
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| HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
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| HP:0001419 | X-linked recessive inheritance | "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators] |
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| HP:0001493 | Falciform retinal folds | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001518 | Low birth weight | |
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| HP:0001622 | Premature birth | |
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| HP:0002076 | Migraine | |
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| HP:0002120 | Cerebral cortical atrophy | |
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| HP:0002169 | Clonus | |
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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:0002360 | Sleep disturbances | "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." [HPO:curators] |
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| HP:0002376 | Developmental regression | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0004326 | Cachexia | |
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| HP:0005293 | Frequent early-onset venous insufficiency | |
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| HP:0006887 | Mental retardation, progressive | "Mental retardation is defined as a decreased intelligence quotient of varying degree. The term progressive mental retardation should be used if intelligence decreases/deteriorates over time." [HPO:curators] |
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| HP:0007018 | Attention deficit hyperactivity disorder | "Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient." [HPO:curators] |
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| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
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| HP:0007663 | Decreased central vision | |
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| HP:0007676 | Hypoplasia of the iris | |
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| HP:0007710 | Peripheral vitreous opacities | |
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| HP:0007759 | Corneal opacities, not impairing visual acuity | |
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| HP:0007833 | Anterior chamber synechiae | |
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| HP:0007902 | Vitreous hemorrhage | |
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| HP:0007917 | Tractional retinal detachment | |
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| HP:0007968 | Persistent hyperplasia of primary vitreous | |
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| HP:0007973 | Retinal dysplasia | |
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| HP:0007989 | Subretinal and intraretinal exudates | |
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| HP:0008046 | Abnormality of the retinal vasculature | |
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| HP:0008052 | Abnormal retinal folds | |
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| HP:0008053 | Aplasia/Hypoplasia of the iris | "Absence or underdevelopment of the iris." [HPO:curators] |
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| HP:0008063 | Aplasia/Hypoplasia of the lens | "Absence or underdevelopment of the lens." [HPO:curators] |
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| HP:0010662 | Abnormality of the diencephalon | "An abnormality of the `Diencephalon` (FMA:62001), which together with the cerebrum (telencephalon) makes up the forebrain." [HPO:probinson] |
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| HP:0010978 | Abnormality of immune system physiology | "A functional abnormality of the `immune system` (FMA:9825)." [HPO:probinson, MP:0001790] |
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| HP:0011039 | Abnormality of the helix | "An abnormality of the `helix` (FMA:60992)." [HPO:probinson] |
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| HP:0011530 | Retinal hole | "A small break in the retina." [HPO:probinson] |
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| HP:0011532 | Subretinal exudate | "A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium." [HPO:probinson] |
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| HP:0012841 | Retinal vascular tortuosity | "The presence of an increased number of twists and turns of the retinal blood vessels." [HPO:probinson] |
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| HP:0030490 | Exudative vitreoretinopathy | |
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| HP:0030666 | Retinal neovascularization | "In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment." [PMID:23329331] |
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| HP:0100012 | Neoplasia of the eye | |
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| HP:0100639 | Erectile abnormalities | |
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| HP:0100716 | Autoagression | "Aggression towards oneself." [HPO:sdoelken] |
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| HP:0100718 | Uterine rupture | |
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| HP:0100742 | Vascular neoplasm | "A benign or malignant `neoplasm` (MPATH:218) (tumour) originating in the vascular system." [HPO:probinson] |
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