| HP:0000007 | Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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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:0000076 | Vesicoureteral reflux | "Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes." [HPO:curators] |
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| HP:0000122 | Unilateral renal agenesis | |
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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:0000219 | Thin upper lip | |
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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:0000275 | Narrow face | |
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| HP:0000278 | Retrognathia | |
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| HP:0000340 | Sloping forehead | "A form of the forehead that slopes from top to bottom in an anterior direction." [HPO:curators] |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000387 | Lobeless ears | |
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| HP:0000426 | Prominent nasal bridge | |
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| HP:0000444 | Beaked nose | |
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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:0000494 | Downward slanting palpebral fissures | |
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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:0000581 | Blepharophimosis | "Reduced width of the palpebral fissures." [HPO:sdoelken] |
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| HP:0000582 | Upslanting palpebral fissures | |
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| HP:0000668 | Hypodontia | "Hypodontia describes a situation when there are fewer than the normal number of teeth, whereby 6 teeth or fewer teeth are missing (oligodontia refers to the condition of missing more than 6 teeth and the congenital absence of all teeth is called anodontia)." [HPO:curators] |
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| HP:0000677 | Oligodontia | "The condition of missing over 6 teeth (Missing up to 6 teeth is referred to a hypodontia)." [HPO:curators] |
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| HP:0000682 | Abnormality of dental enamel | "An abnormality of the dental enamel, which is the external layer of the teeth, being a highly mineralized substance consisting primarily of hydroxylapatite." [HPO:curators] |
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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:0000878 | 11 pairs of ribs | |
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| HP:0001249 | Mental retardation | |
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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:0001274 | Agenesis of corpus callosum | "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." [HPO:curators] |
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| HP:0001302 | Pachygyria | "A congenital abnormality of the cerebral hemisphere chacterized by unusually thick gyrations (convolutions) of the cerebral cortex." [HPO:curators] |
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| HP:0001335 | Mirror hand movements (bimanual synkinesia) | |
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| HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
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| HP:0001363 | Craniosynostosis | "Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth." [HPO:curators] |
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| HP:0001385 | Hip dysplasia | |
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| HP:0001511 | Intrauterine growth retardation | |
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| HP:0001763 | Pes planus | "A condition in which the arch of the foot is flat, with the entire sole of the foot being in near-complete contact with the ground." [HPO:curators] |
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| HP:0001852 | Gap between first and second toes | "The presence of a larger than normal gap between the first and second toes related to medial displacement of the first toe." [HPO:curators] |
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| HP:0002119 | Ventriculomegaly | |
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| HP:0002209 | Sparse scalp hair | "Sparseness of the `head hair` (FMA:54241)." [HPO:probinson] |
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| HP:0002282 | Heterotopia | |
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| HP:0002536 | Abnormal cortical gyration | "An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain." [HPO:curators] |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002750 | Delayed skeletal maturation | "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." [HPO:curators] |
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| HP:0003103 | Abnormality of cortical bone | "An abnormality of cortical bone (also known as compact bone), which forms the dense surface of bones." [HPO:curators] |
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| HP:0003683 | Large beaked nose | |
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| HP:0004209 | Clinodactyly of the 5th finger | "Clinodactyly refers to a bending or curvature of the `fifth finger` (FMA:24949) in the radial direction (i.e., towards the 4th finger)." [HPO:curators] |
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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:0004326 | Cachexia | |
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| HP:0005692 | Joint hyperflexibility | |
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| HP:0007333 | Hypoplastic frontal lobes | "Underdevelopment of the frontal lobe of the cerebrum." [HPO:sdoelken] |
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| HP:0007495 | Prematurely aged appearance | |
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| HP:0008665 | Hypertrophic clitoris | |
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| HP:0009804 | Reduced number of teeth | |
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| HP:0009879 | Cortical gyral simplification | "An abnormal reduction of the number and complexity of the pattern of gyrations of the cerebral cortex." [HPO:curators] |
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| HP:0010579 | Cone-shaped epiphyses | |
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| HP:0010864 | Mental retardation, severe | "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34." [HPO:probinson] |
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| HP:0011342 | Mild global developmental delay | "A mild delay in the achievement of motor or mental milestones in the domains of development of a child." [DDD:hvfirth] |
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| HP:0100543 | Cognitive impairment | "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken] |
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| HP:0100710 | Impulsivity | |
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