| 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: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:0000238 | Hydrocephalus | |
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| HP:0000256 | Macrocephaly | "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson] |
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| HP:0000365 | Hearing loss | |
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| HP:0000388 | Otitis media | |
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| HP:0000505 | Impaired vision | |
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| HP:0000572 | Visual loss | |
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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:0000648 | Optic atrophy | |
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| HP:0000649 | Abnormality of vision evoked potentials | |
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| HP:0000670 | Carious teeth | |
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| HP:0000684 | Delayed dentition | "Delayed eruption of teeth." [HPO:curators] |
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| HP:0000772 | Abnormality of the ribs | |
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| HP:0000774 | Narrow chest | |
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| HP:0000944 | Abnormality of the metaphyses | |
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| HP:0000978 | Ecchymoses | |
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| HP:0000980 | Pallor | |
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| HP:0001163 | Abnormality of the metacarpal bones | |
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| HP:0001337 | Tremor | "An unintentional, oscillating to-and-fro muscle movement." [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:0001373 | Joint dislocation | "Displacement or malalignment of joints." [HPO:curators] |
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| HP:0001425 | Heterogeneous | |
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| HP:0001433 | Hepatosplenomegaly | |
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| HP:0001510 | Growth retardation | |
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| HP:0001641 | Abnormality of the pulmonary valve | "An abnormality of the `pulmonary valve` (FMA:7246)." [HPO:probinson] |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001881 | Abnormality of leukocytes | |
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| HP:0001903 | Anemia | |
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| HP:0001923 | Reticulocytosis | |
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| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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| HP:0002092 | Pulmonary hypertension | |
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| HP:0002104 | Apnea | "Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event." [HPO:curators] |
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| HP:0002148 | Hypophosphatemia | "A lower than normal level of blood phosphate." [HPO:curators] |
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| HP:0002205 | Recurrent respiratory infections | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002257 | Chronic rhinitis | |
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| HP:0002644 | Abnormality of the pelvis | "An abnormality of the bony pelvis (pelvic girdle); which is a ring of bones connecting the vertebral column to the femurs." [HPO:curators] |
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| HP:0002653 | Bone pain | |
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| HP:0002716 | Lymphadenopathy | |
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| HP:0002757 | Recurrent fractures | "The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators] |
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| HP:0002758 | Osteoarthritis | |
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| HP:0002857 | Genu valgum | |
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| HP:0002901 | Hypocalcemia | "A level of blood calcium that is lower than normal." [HPO:curators] |
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| HP:0003084 | Fractures of the long bones | "An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula,humerus, radius, and ulna)." [HPO:curators] |
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| HP:0003148 | Elevated serum acid phosphatase | |
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| HP:0003621 | Juvenile onset | |
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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:0004349 | Reduced bone mineral density | "A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones." [HPO:curators] |
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| HP:0004370 | Abnormality of temperature regulation | |
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| HP:0004415 | Pulmonary artery stenosis | |
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| HP:0005106 | Abnormality of the vertebral endplates | "Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs." [HPO:curators] |
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| HP:0005528 | Bone marrow hypoplasia | |
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| HP:0005789 | Osteosclerosis, diffuse symmetrical | |
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| HP:0005930 | Abnormality of the epiphyses | |
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| HP:0006323 | Premature deciduous tooth loss | |
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| HP:0006487 | Bowing of the long bones | |
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| HP:0006824 | Cranial nerve paralysis | |
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| HP:0007209 | Facial paralysis due to cranial nerve VII compression | "Facial nerve paralysis (facial palsy) caused by compression (with ensuing loss of function) of the facial nerve (i.e., the seventh cranial nerve)." [HPO:curators] |
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| HP:0007626 | Mandibular osteomyelitis | |
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| HP:0007807 | Optic nerve compression | |
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| HP:0008066 | Abnormal blistering of the skin | |
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| HP:0008843 | Hip osteoarthritis | |
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| HP:0009882 | Hypoplasia of the distal phalanges of the hand | |
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| HP:0010543 | Opsoclonus | "Spontaneous, non-rhythmic, multi-directional, chaotic movements of the eyes, giving the appearance of agitation. There may be bursts of conjugate movement of the eyes in varying directions and of varying amplitude." [HPO:curators] |
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| HP:0010628 | Facial muscle weakness | "A weakness of any or all of the muscles of the face of any etiology." [HPO:curators] |
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| HP:0010719 | Abnormality of hair texture | "An abnormality of the texture of the `hair` (FMA:53667)." [HPO:probinson] |
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| HP:0010885 | Aseptic necrosis | "A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply." [HPO:sdoelken] |
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| HP:0011002 | Osteopetrosis | |
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