| HP:0000013 | Hypoplastic uterus | |
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| HP:0000035 | Abnormality of the testis | |
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| HP:0000037 | Male pseudohermaphroditism | "Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes." [HPO:curators] |
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| HP:0000039 | Epispadias | "Displacement of the urethral opening on the dorsal (superior) surface of the penis." [HPO:curators] |
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| HP:0000041 | Chordee | "A condition in which the head of the penis curves downward." [HPO:curators] |
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| HP:0000047 | Hypospadias | "Displacement of the urethral opening on the ventral (inferior) surface of the penis." [HPO:curators] |
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| HP:0000054 | Micropenis | |
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| HP:0000062 | Ambiguous genitalia | |
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| HP:0000238 | Hydrocephalus | |
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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:0000278 | Retrognathia | |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000365 | Hearing loss | |
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| HP:0000431 | Broad nasal bridge | "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators] |
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| HP:0000445 | Broad nose | |
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| HP:0000499 | Abnormality of the eyelashes | "An abnormality of the `eyelashes` (FMA:53669)." [HPO:probinson] |
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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:0000528 | Anophthalmia | "Absence of a true eyeball." [HPO:curators] |
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| HP:0000556 | Retinal dystrophy | |
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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:0000572 | Visual loss | |
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| HP:0000580 | Pigmentary retinopathy | |
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| HP:0000612 | Iris coloboma | "A `coloboma` (HP:0000589) of the `iris` (FMA:58235)." [HPO:probinson] |
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| HP:0000614 | Abnormality of the lacrimal duct | |
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| HP:0000618 | Blindness | |
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| HP:0000627 | Posterior embryotoxon | |
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| HP:0000646 | Amblyopia | "Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. Ambylopia can result from visual deprivation during the critical period of development of visual abilities which lasts to about the age of 8 years. Thus, ambylopia can result from strabismus, anisometropia, or high hypermetropia in there is a failure to form a focused image in one or both eyes." [HPO:curators] |
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| HP:0000647 | Sclerocornea | |
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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:0000776 | Diaphragmatic hernia | "Diaphragmatic hernia is the result of a developmental defect causing an abnormal opening in the diaphragm, through which abdominal organs (stomach, spleen, liver, and intestines) can protrude into the thoracic cavity. This usually causes respiratory distress in the newborn period." [HPO:curators] |
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| HP:0000953 | Hyperpigmentation | |
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| HP:0000960 | Sacral dimple | "A subtype of `skin dimples` (HP:0010781) presenting as an indentation in the skin of the intergluteal cleft ." [HPO:probinson] |
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| HP:0001053 | Hypopigmented skin patches | |
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| HP:0001249 | Mental retardation | |
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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: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:0001328 | Learning disability | |
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| HP:0001331 | Absent septum pellucidum | "Absence of the septum pellucidum." [HPO:curators] |
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| HP:0001423 | X-linked dominant inheritance | "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." [HPO:curators] |
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| HP:0001508 | Failure to thrive | |
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| HP:0001545 | Anteriorly placed anus | "Anterior malposition of the anus." [HPO:curators] |
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| HP:0001597 | Abnormality of the nails | "Abnormality of the fingernails or toenails." [HPO:curators] |
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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:0001631 | Atrial septal defect | "Atrial septal defect (ASD) is a congenital heart defect that enables blood flow between the left and right atria via the interatrial septum. The three common types of ASD are sinus venosus defects, ostium secundum defects, and ostium primum defects." [HPO:curators] |
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| HP:0001634 | Mitral valve prolapse | |
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| HP:0001639 | Hypertrophic cardiomyopathy | |
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| HP:0001644 | Dilated cardiomyopathy | |
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| HP:0001653 | Mitral regurgitation | "An `abnormality of the mitral valve` (HP:0001633) characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction." [HPO:probinson] |
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| HP:0001671 | Abnormality of the cardiac septa | |
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| HP:0001704 | Tricuspid valve prolapse | |
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| HP:0001939 | Metabolism abnormality | |
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| HP:0001999 | Facial dysmorphism | |
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| HP:0002023 | Anal atresia | "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators] |
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| HP:0002034 | Abnormality of the rectum | |
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| HP:0002098 | Respiratory distress | |
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| HP:0002133 | Status epilepticus | |
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| HP:0002300 | Mutism | |
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| HP:0002357 | Dysphasia | |
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| HP:0002381 | Aphasia | |
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| HP:0002623 | Overriding aorta | "An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle." [HPO:curators] |
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| HP:0002878 | Early respiratory failure | |
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| HP:0003510 | Short stature, severe | "A severe degree of short stature." [HPO:curators] |
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| HP:0004302 | Functional motor problems. | |
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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:0004334 | Dermal atrophy | "Partial or complete wasting (atrophy) of the skin." [HPO:curators] |
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| HP:0004378 | Abnormality of the anus | "Abnormality of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators] |
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| HP:0005152 | Oncocytic cardiomyopathy | |
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| HP:0005180 | Tricuspid 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:0007398 | Asymmetric, linear skin defects | |
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| HP:0007703 | Abnormal retinal pigmentation | |
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| HP:0007731 | Chorioretinal dysplasia | |
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| HP:0007973 | Retinal dysplasia | |
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| HP:0008665 | Hypertrophic clitoris | |
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| HP:0009939 | Mandibular aplasia | "Absence of the mandible." [HPO:curators] |
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| HP:0010529 | Echolalia | "The tendency to repeat vocalizations made by another person." [HPO:curators] |
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| HP:0010783 | Erythema | "Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin." [HPO:probinson] |
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| HP:0011027 | Abnormality of the fallopian tube | "An abnormality of the `fallopian tube` (FMA:18245)." [HPO:probinson] |
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| HP:0011265 | Cleft earlobe | "Discontinuity in the convexity of the inferior margin of the lobe." [pmid:19152421] |
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| HP:0011531 | Vitreitis | "Inflammation of the vitreous body." [HPO:probinson] |
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| HP:0011675 | Arrhythmia | "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." [DDD:dbrown, pmid:19063792] |
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| HP:0011800 | Midface retrusion | "Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle." [DDD:jclayton-smith] |
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| HP:0011968 | Feeding difficulties | "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
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| HP:0012861 | Ovotestis | "A gonad that contains both ovarian follicles and testicular tubular elements." [HPO:probinson] |
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| HP:0030048 | Colpocephaly | "Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles." [] |
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