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:0000175 | Cleft palate | "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators] |
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HP:0000204 | Cleft lip | "A gap in the `upper lip` (FMA:59817). This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development." [HPO:probinson] |
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HP:0000248 | Brachycephaly | "Brachycephaly refers to a short, wide head, which is often caused by premature closure of both coronal sutures." [HPO:curators] |
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HP:0000316 | Hypertelorism | |
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HP:0000455 | Broad nasal tip | |
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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:0000506 | Telecanthus | "An abnormally increased distance between the medial canthi (angle between eyelids) of the eyelids." [HPO:curators] |
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HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
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HP:0000545 | Myopia | |
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HP:0001159 | Syndactyly | "Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
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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: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:0001762 | Talipes equinovarus | "Also called clubfoot typically has 4 main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus." [HPO:curators] |
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HP:0001805 | Thickened nails | |
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HP:0002079 | Hypoplasia of the corpus callosum | "Underdevelopment of the corpus callosum." [HPO:curators] |
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HP:0002084 | Encephalocele | |
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HP:0002119 | Ventriculomegaly | |
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HP:0002190 | Choroid plexus cyst | |
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HP:0002435 | Meningocele | |
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HP:0002690 | Large sella turcica | "An abnormal enlargement of the sella turcica." [HPO:curators] |
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HP:0002781 | Upper airway obstruction | |
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HP:0004122 | Midline defect of the nose | "This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip." [HPO:curators] |
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HP:0006951 | Retrocerebellar cyst | |
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HP:0009928 | Ala nasi, thick | "Increase in bulk of the ala nasi." [pmid:19152422] |
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HP:0010442 | Polydactyly | |
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HP:0010559 | Vertical clivus | "An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum)." [HPO:curators] |
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HP:0010806 | U-Shaped upper lip vermilion | "Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures." [pmid:19125428] |
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HP:0011803 | Bifid nose | "Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip." [pmid:19152422] |
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HP:0040075 | Hypopituitarism | |
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HP:0100258 | Preaxial polydactyly | "A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe." [HPO:probinson] |
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