| HP:0000003 | Multicystic kidney | "Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvocaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional." [HPO:curators] |
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| 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:0000074 | Ureteropelvic junction obstruction | |
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| HP:0000076 | Vesicoureteral reflux | "Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes." [HPO:curators] |
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| HP:0000083 | Renal failure | |
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| HP:0000104 | Renal agenesis | |
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| HP:0000110 | Renal dysplasia | |
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| HP:0000113 | Polycystic kidney | |
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| HP:0000126 | Hydronephrosis | |
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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:0000193 | Bifid uvula | "A split or cleft uvula." [HPO:curators] |
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| HP:0000218 | High palate | "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428] |
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| HP:0000275 | Narrow face | |
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| HP:0000276 | Long face | |
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| HP:0000278 | Retrognathia | |
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| HP:0000293 | Full cheeks | |
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| HP:0000324 | Facial asymmetry | |
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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:0000369 | Low-set ears | "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators] |
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| HP:0000376 | Mondini malformation | "The normal cochlea has two and one half turns. Mondini malformation refers to the development of only one and a half turns of the cochlea. The defect usually occurs in the seventh week of gestation after development of the basal turn. There is incomplete partition with resulting confluency of the middle and apical turns." [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:0000384 | Preauricular skin tag | "A rudimentary tag of ear tissue often containing a core of cartilage and located just in front of the auricle (outer part of the ear)." [HPO:curators] |
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| HP:0000400 | Large ears | |
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| HP:0000402 | Stenotic external auditory canal | "An abnormal narrowing of the external auditory canal." [HPO:curators] |
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| HP:0000405 | Hearing loss, conductive | |
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| HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| HP:0000410 | Mixed hearing loss | |
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| HP:0000411 | Protruding ears | |
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| HP:0000413 | External auditory canal atresia | "Absence or failure to form of the external auditory canal." [HPO:curators] |
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| HP:0000460 | Narrow nose | |
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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:0000472 | Long neck | |
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| HP:0000614 | Abnormality of the lacrimal duct | |
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| HP:0000632 | Lacrimation abnormality | |
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| HP:0000691 | Microdontia | |
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| HP:0000799 | Fatty kidneys | |
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| HP:0000889 | Abnormality of the clavicles | "Any abnormality of the clavicles (collar bones)." [HPO:curators] |
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| HP:0001249 | Mental retardation | |
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| HP:0001256 | Mental retardation, mild | "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:curators] |
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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:0001276 | Hypertonia | |
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| HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
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| HP:0001374 | Congenital hip dislocation | |
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| HP:0001425 | Heterogeneous | |
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| HP:0002060 | Abnormality of the cerebrum | |
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| HP:0002167 | Neurological speech impairment | |
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| HP:0002566 | Intestinal malrotation | "An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis." [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:0003691 | Scapular winging | |
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| HP:0003828 | Variable expressivity | |
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| HP:0003829 | Incomplete penetrance | |
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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:0004452 | Abnormality of the middle ear ossicles | "An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea)." [HPO:curators] |
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| HP:0004458 | bulbous internal auditory canal | |
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| HP:0004467 | Preauricular sinus | "The preauricular sinus is a benign congenital lesion of the preauricular soft tissue consisting of a blind-ending narrow tube or pit. It is also known as preauricular pit, preauricular fistula, preauricular tract and preauricular cyst. It can be asymptomatic or present as an infected and discharging sinus. It presents as a small pit adjacent to the external ear usually located at the anterior margin of the ascending limb of the helix." [HPO:curators] |
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| HP:0004712 | Malrotation of the kidney | |
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| HP:0004742 | Abnormality of the renal collecting system | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0007477 | Abnormal dermatoglyphics | "An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles." [HPO:curators] |
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| HP:0007678 | Nasolacrimal duct stenosis | |
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| HP:0007925 | Lacrimal duct aplasia or stenosis | |
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| HP:0008551 | Underdeveloped ears | |
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| HP:0008554 | Cochlear malformation | "A cochlear malformation may include a membranous abnormality, a bony abnormality, or a combination of the two." [HPO:curators] |
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| HP:0008572 | External ear malformation | |
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| HP:0008586 | Hypoplastic cochlea | |
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| HP:0008609 | Middle ear malformations | |
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| HP:0008678 | Renal hypoplasia/aplasia | |
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| HP:0009738 | Abnormal antihelix | "An abnormal form of the antihelix, which is the curved prominence of cartilage, parallel with and in front of the helix, and which divides into the crura antihelicis, between which is a triangular depression, the fossa triangularis." [HPO:curators] |
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| HP:0009795 | Branchial fistula | "A congenital fistula in the neck resulting from incomplete closure of a branchial cleft." [HPO:curators] |
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| HP:0009796 | Branchial cyst | "A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of the second branchial cleft and consists of a subcutaneous cystic mass located between the sternocleidomastoid muscle and the pharynx." [HPO:curators] |
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| HP:0009797 | Cholesteatoma | "Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process." [HPO:curators] |
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| HP:0009798 | Euthyroid goiter | "A goiter (enlargement of the thyroid gland) that is not associated with functional thyroid abnormalities." [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:0011094 | Overbite | "Maxillary teeth cover the mandibular teeth when biting to an increased degree." [HPO:ibailleulforestier] |
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| HP:0011388 | Enlarged cochlear aqueduct | "Increased size of the `cochlear duct` (FMA:61119), i.e., of a duct that communicates between the perilymphatic space and the subarachnoid space, and transmits a vein from the cochlea to join the internal jugular." [DDD:dfitzpatrick] |
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| HP:0011481 | Abnormality of the lacrimal duct | "An abnormality of the ` lacrimal duct` (FMA:61063), a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac." [HPO:probinson] |
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| HP:0100267 | Lip pits | |
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| HP:0100274 | Gustatory lacrimation | "Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal." [HPO:sdoelken] |
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| HP:0200021 | Rounded shoulders | |
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