| 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: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:0000154 | Wide mouth | "Abnormally wide mouth." [HPO:curators] |
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| HP:0000179 | Prominent lower lip | "Increased thickness of the lower lip, leading to a prominent appearance of the lower lip." [HPO:curators] |
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| HP:0000232 | Everted lower lip | |
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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:0000289 | Wide philtrum | |
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| HP:0000294 | Low frontal hairline | "A condition in which the scalp hair is present at lower than usual areas of the forehead." [HPO:curators] |
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| HP:0000319 | Flat philtrum | |
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| HP:0000325 | Triangular facies | |
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| HP:0000343 | Long philtrum | |
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| HP:0000446 | Narrow nasal bridge | |
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| HP:0000463 | Nares, anteverted | "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject." [pmid:19152422] |
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| HP:0000494 | Downward slanting palpebral fissures | |
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| HP:0000527 | Long eyelashes | "Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective)." [pmid:19125427] |
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| HP:0000581 | Blepharophimosis | "Reduced width of the palpebral fissures." [HPO:sdoelken] |
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| HP:0000687 | Widely spaced teeth | |
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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:0000964 | Eczema | "Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding." [HPO:curators] |
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| HP:0001006 | Hypotrichosis | "Reduced or lacking hair growth." [HPO:curators] |
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| HP:0001156 | Brachydactyly | |
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| HP:0001163 | Abnormality of the metacarpal bones | |
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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:0001328 | Learning disability | |
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| HP:0001344 | Absent speech development | |
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| HP:0001373 | Joint dislocation | "Displacement or malalignment of joints." [HPO:curators] |
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| HP:0001508 | Failure to thrive | |
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| HP:0001511 | Intrauterine growth retardation | |
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| HP:0001596 | Alopecia | "Loss of hair from the head or body." [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:0002121 | Absence seizures | "Recurrent absence seizures are `generalized seizures` (HP:0002197) that are characterized by a sudden cessation of motor activity and by a blank facial expression with flickering of the eyelids. There is no convulsive muscular activity or loss of postural control." [HPO:probinson] |
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| HP:0002133 | Status epilepticus | |
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| HP:0002209 | Sparse scalp hair | "Sparseness of the `head hair` (FMA:54241)." [HPO:probinson] |
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| HP:0002223 | Absent eyebrows | |
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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:0002465 | Poor speech | |
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| HP:0002553 | Arched eyebrows | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002705 | High, narrow palate | "The presence of a high and narrow palate." [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:0003510 | Short stature, severe | "A severe degree of short stature." [HPO:curators] |
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| HP:0004279 | Hypoplastic hand | |
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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:0005616 | Accelerated skeletal maturation | "An abnormally increased rate of skeletal maturation. Accelerated 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:0005930 | Abnormality of the epiphyses | |
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| HP:0006237 | Prominent interphalangeal joints | |
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| HP:0006610 | Wide intermamillary distance | |
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| HP:0007392 | Excessive wrinkled skin | |
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| HP:0007665 | Curly eyelashes | "Abnormally curly or curved eyelashes." [HPO:curators] |
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| HP:0007946 | Narrow palpebral fissure, unilateral | |
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| HP:0009803 | Hypoplastic/small phalanges of the hand | |
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| HP:0009836 | Broad distal phalanges of the hand | "Abnormally wide (broad) distal phalanges of the fingers." [HPO:curators] |
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| HP:0009928 | Ala nasi, thick | "Increase in bulk of the ala nasi." [pmid:19152422] |
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| HP:0010049 | Hypoplastic/short metacarpal bones | |
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| HP:0010529 | Echolalia | "The tendency to repeat vocalizations made by another person." [HPO:curators] |
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| HP:0010720 | Abnormal hair growth pattern | "An abnormality of the distribution of hair growth." [HPO:probinson] |
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| HP:0010743 | Hypoplasia of the metatarsal bones | |
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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:0011097 | Epileptic spasms | "A sudden flexion, extension or mixed extension-flexion of predominantly proximal and truncal muscles which is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure." [HPO:jalbers] |
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| HP:0012745 | Short palpebral fissure | "Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures." [pmid:19125427] |
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| HP:0012810 | Wide nasal base | "Increased distance between the attachments of the alae nasi to the face." [HPO:probinson, pmid:19152422] |
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| HP:0030680 | Abnormality of cardiovascular system morphology | "Any structural anomaly of the heart and great vessels." [] |
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| HP:0100760 | Clubbing of toes | "Terminal broadening of the toes (distal phalanges of the toes)." [HPO:sdoelken] |
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| HP:0100790 | Hernia | |
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