| 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:0000010 | Recurrent urinary tract infections | "Repeated infections of the urinary tract." [HPO:curators] |
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| HP:0000073 | Ureteral duplication | "A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder." [HPO:curators] |
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| HP:0000083 | Renal failure | |
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| HP:0000089 | Renal hypoplasia | |
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| HP:0000104 | Renal agenesis | |
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| HP:0000286 | Epicanthus | "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators] |
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| HP:0000303 | Mandibular prognathia | "Abnormal prominence of the chin related to an abnormally long mandible." [HPO:curators] |
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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:0000378 | Cup-shaped ears | "Small auricles that grow forward over the meatus (ear canal)." [HPO:curators] |
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| HP:0000385 | Hypoplastic ear lobes | |
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| HP:0000411 | Protruding ears | |
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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:0000506 | Telecanthus | "An abnormally increased distance between the medial canthi (angle between eyelids) of the eyelids." [HPO:curators] |
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| HP:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
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| HP:0000519 | Congenital cataract | "A congenital `cataract` (HP:0000518)." [HPO:probinson] |
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| HP:0000581 | Blepharophimosis | "Reduced width of the palpebral fissures." [HPO:sdoelken] |
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| HP:0000601 | Hypotelorism | |
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| HP:0000612 | Iris coloboma | "A `coloboma` (HP:0000589) of the `iris` (FMA:58235)." [HPO:probinson] |
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| HP:0000625 | Eyelid, cleft | "A short discontinuity of the margin of the lower or upper eyelid." [pmid:19125427] |
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| HP:0000684 | Delayed dentition | "Delayed eruption of teeth." [HPO:curators] |
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| HP:0000765 | Abnormality of the thorax | "Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs)." [HPO:curators] |
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| HP:0000818 | Endocrine abnormality | |
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| HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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| HP:0000951 | Abnormality of the skin | "An abnormality of the `skin` (FMA:7163)." [HPO:probinson] |
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| HP:0000966 | Hypohidrosis | "Abnormally diminished capacity to sweat." [HPO:curators] |
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| HP:0001231 | Abnormality of the fingernails | "An abnormality of the `fingernails` (FMA:54327)." [HPO:probinson] |
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| HP:0001595 | Hair abnormality | |
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| HP:0001597 | Abnormality of the nails | "Abnormality of the fingernails or toenails." [HPO:curators] |
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| HP:0001965 | Abnormality of the scalp | "Abnormality of the scalp of the head, which can be described as having the following five layers: 1) skin and head hair; 2) connective tissue; 3) the aponeurosis (a layer of dense fibrous tissue); 4) loose areolar connective tissue; and 5) the periosteum of the skull bones." [HPO:curators] |
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| HP:0002000 | Columella, short | "Reduced distance from the anterior border of the naris to the subnasale." [pmid:19152422] |
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| HP:0002164 | Nail dysplasia | |
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| HP:0002213 | Fine hair | |
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| HP:0004691 | 2-3 toe syndactyly | "`Syndactyly` (HP:0001159) with fusion of toes two and three." [HPO:sdoelken] |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0005580 | Duplication of renal pelvis | |
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| HP:0006349 | Absence of permanent teeth | "A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodonita, and adontia of the permanent dentition." [HPO:probinson] |
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| HP:0006709 | Aplasia/Hypoplasia of the nipples | |
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| HP:0008070 | Sparse hair | |
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| HP:0008551 | Underdeveloped ears | |
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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:0011251 | Underdeveloped antitragus | "Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix." [HPO:probinson, pmid:19152421] |
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| HP:0011272 | Underdeveloped tragus | "Decreased posterolateral protrusion of the tragus." [pmid:19152421] |
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| HP:0011939 | 3-4 finger cutaneous syndactyly | "A soft tissue continuity in the A/P axis between fingers 4 and 4." [HPO:probinson] |
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| HP:0012330 | Pyelonephritis | "An inflammation of the `kidney` (FMA:7203) involving the `parenchyma of kidney` (FMA:15574), the renal pelvis (FMA:15575) and the kidney calices." [HPO:probinson] |
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| HP:0100540 | Palpebral edema | |
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| HP:0100651 | Diabetes mellitus Type I | |
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| HP:0100783 | Breast aplasia | |
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