| 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:0000007 | Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000070 | Ureterocele | |
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| HP:0000075 | Renal duplication | |
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| HP:0000096 | Glomerulosclerosis | |
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| HP:0000110 | Renal dysplasia | |
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| HP:0000119 | Genitourinary abnormality | "The presence of any abnormality of the genitourinary system." [HPO:curators] |
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| HP:0000126 | Hydronephrosis | |
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| HP:0000656 | Ectropion | "An abnormal turning outward of the lower eyelid." [HPO:sdoelken] |
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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:0000790 | Hematuria | "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators] |
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| HP:0000962 | Hyperkeratosis | "Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum." [HPO:curators] |
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| HP:0000982 | Palmoplantar keratoderma | |
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| HP:0001000 | Abnormality of skin pigmentation | |
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| HP:0001030 | Fragile skin | |
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| HP:0001056 | Milia | |
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| HP:0001057 | Aplasia cutis congenita | "A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs." [HPO:curators] |
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| HP:0001059 | Pterygia | "Pterygia are winglike triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits." [HPO:curators] |
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| HP:0001060 | Axillary pterygia | |
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| HP:0001075 | Atrophic scars | |
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| HP:0001376 | Decreased mobility of joints | |
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| HP:0001425 | Heterogeneous | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001510 | Growth retardation | |
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| HP:0001522 | Death in infancy | |
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| HP:0001561 | Polyhydramnios | |
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| HP:0001581 | Recurrent skin infections | "Infections of the skin that happen multiple times." [HPO:curators] |
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| HP:0001622 | Premature birth | |
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| HP:0001798 | Anonychia | "Total absence of nails." [HPO:curators] |
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| HP:0001808 | Fragile nails | |
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| HP:0001903 | Anemia | |
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| HP:0001944 | Dehydration | |
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| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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| HP:0002017 | Nausea and vomiting | |
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| HP:0002032 | Esophageal atresia | "A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach." [HPO:curators] |
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| HP:0002041 | Intractable diarrhea | |
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| HP:0002164 | Nail dysplasia | |
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| HP:0002231 | Sparse body hair | "Sparseness of the body hair." [HPO:probinson] |
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| HP:0002577 | Abnormality of the stomach | "An abnormality of the stomach, i.e., the hollow, muscular organ of the gastrointestinal tract between the esophagus and the small intestine." [HPO:curators] |
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| HP:0002804 | Arthrogryposis multiplex congenita | |
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| HP:0003270 | Abdominal distention | "Enlargement or distention of the abdomen, which can be a secondary feature associated with a number of conditions such as bowel obstruction." [HPO:curators] |
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| HP:0003341 | Skin cleavage in the lamina lucida | |
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| HP:0003577 | Onset at birth | |
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| HP:0004399 | Congenital pyloric atresia | |
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| HP:0004552 | scarring alopecia of scalp | |
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| HP:0005984 | Elevated maternal serum alpha-fetoprotein | "An elevation of alpha-feto protein in the maternal serum." [HPO:curators] |
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| HP:0006089 | Palmar hyperhidrosis | |
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| HP:0006297 | Hypoplastic dental enamel | |
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| HP:0007446 | Epidermolysis bullosa involving hands and feet only | |
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| HP:0007556 | Plantar hyperkeratosis | "`Hyperkeratosis` (HP:0000962) affecting the sole of the foot." [HPO:probinson] |
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| HP:0008404 | Nail dystrophy, variable | |
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| HP:0010477 | Aplasia of the bladder | "Absence of the urinary bladder." [HPO:curators] |
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| HP:0011100 | Intestinal atresia | "An abnormal closure, or `atresia` (PATO:0001819) of the tubular structure of the `intestine` (FMA:7199)." [HPO:probinson] |
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| HP:0012227 | Urethral stricture | "Narrowing of the urethra associated with inflammation or scar tissue." [HPO:probinson] |
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| HP:0100490 | Camptodactyly (hands) | "Contractures of one ore more joints of the fingers." [HPO:sdoelken] |
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| HP:0100577 | Urinary bladder inflammation | "`Inflammation`(MPATH:212) of the `urinary bladder` (FMA:15900)." [HPO:probinson] |
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| HP:0100806 | Sepsis | |
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| HP:0200041 | skin erosion | "A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed." [HPO:SKOEHLER] |
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| HP:0200097 | Oral mucusa blisters | |
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