| 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:0000110 | Renal dysplasia | |
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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:0000278 | Retrognathia | |
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| HP:0000365 | Hearing loss | |
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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:0000413 | External auditory canal atresia | "Absence or failure to form of the external auditory canal." [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:0008572 | External ear malformation | |
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| HP:0008586 | Hypoplastic cochlea | |
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| HP:0008678 | Renal hypoplasia/aplasia | |
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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: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:0011332 | Hemifacial hypoplasia | "Unilateral underdevelopment of the facial tissues, including muscles and bones." [DDD:awilkie] |
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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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