| 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:0000104 | Renal agenesis | |
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| HP:0000198 | Absence of Stensen duct | |
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| HP:0000217 | Xerostomia | "Dryness of the mouth due to salivary gland dysfunction." [HPO:curators] |
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| HP:0000316 | Hypertelorism | |
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| HP:0000337 | Broad forehead | "Abnormally large side-to-side distance of the forehead." [HPO:curators] |
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| HP:0000378 | Cup-shaped ears | "Small auricles that grow forward over the meatus (ear canal)." [HPO:curators] |
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| HP:0000410 | Mixed hearing loss | |
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| HP:0000494 | Downward slanting palpebral fissures | |
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| HP:0000495 | Recurrent corneal erosions | "The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations." [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:0000522 | Alacrima | |
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| HP:0000579 | Nasolacrimal duct obstruction | |
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| HP:0000620 | Dacrocystitis | |
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| HP:0000629 | Periorbital fullness | |
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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:0000670 | Carious teeth | |
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| HP:0000680 | Delayed eruption of deciduous teeth | |
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| HP:0000974 | Hyperextensible skin | |
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| HP:0001092 | Absent lacrimal puncta | |
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| HP:0001233 | 2-3 finger syndactyly | "`Syndactyly` (HP:0001159) with fusion of fingers two and three." [HPO:sdoelken] |
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| HP:0001245 | Thenar hypoplasia | "Underdevelopment of the thenar eminence." [HPO:curators] |
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| HP:0002984 | Hypoplasia of the radius | "Underdevelopment of the radius." [HPO:curators] |
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| HP:0003022 | Hypoplasia of the ulna | "Underdevelopment of the ulna." [HPO:curators] |
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| HP:0003974 | Absent ossification/absence of radius | |
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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:0005707 | Bilateral digitalized thumbs | |
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| HP:0006297 | Hypoplastic dental enamel | |
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| HP:0007656 | Lacrimal gland aplasia/hypoplasia | |
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| HP:0007732 | Hypoplastic lacrimal gland | |
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| HP:0007892 | Aplastic/hypoplastic lacrimal puncta | |
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| HP:0007900 | Hypoplastic lacrimal duct | |
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| HP:0008743 | Coronal hypospadias | "A mild form of hypospadias in which the urethra opens just under the corona glandis." [HPO:curators] |
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| HP:0009462 | Radial deviation of the 3rd finger | "Displacement of the 3rd finger towards the radial side." [HPO:curators] |
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| HP:0009637 | Aplasia of the proximal phalanx of the thumb | "Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] |
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| HP:0009740 | Aplasia of the parotid gland | "Absence of the parotid gland." [HPO:curators] |
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| HP:0009741 | Nephrosclerosis | "Nephrosclerosis refers to thickening or scarring ("sclerosis") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries." [HPO:curators] |
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| HP:0009944 | Partial duplication of the phalanges of the thumb | "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [HPO:curators] |
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| HP:0010055 | Broad hallux | |
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| HP:0011065 | Conical incisor | "An abnormal `conical` (PATO:0002021) morphology of the `incisor tooth` (FMA:12823)." [HPO:ibailleulforestier] |
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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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| HP:0100583 | Corneal perforation | |
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