| 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: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: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: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:0000413 | External auditory canal atresia | "Absence or failure to form of the external auditory canal." [HPO:curators] |
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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: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: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:0002710 | Commissural lip pits | |
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| HP:0003828 | Variable expressivity | |
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| HP:0003829 | Incomplete penetrance | |
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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: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: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: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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