| 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:0000013 | Hypoplastic uterus | |
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| HP:0000028 | Cryptorchidism | "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators] |
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| HP:0000047 | Hypospadias | "Displacement of the urethral opening on the ventral (inferior) surface of the penis." [HPO:curators] |
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| HP:0000049 | Shawl scrotum | "A condition in which the upper scrotal skin rises over the base of the penis." [HPO:curators] |
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| HP:0000070 | Ureterocele | |
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| HP:0000074 | Ureteropelvic junction obstruction | |
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| HP:0000083 | Renal failure | |
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| HP:0000085 | Horseshoe kidney | |
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| HP:0000089 | Renal hypoplasia | |
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| HP:0000093 | Proteinuria | |
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| HP:0000104 | Renal agenesis | |
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| HP:0000107 | Renal cysts | |
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| HP:0000122 | Unilateral renal agenesis | |
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| HP:0000239 | Large fontanelles | "In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms." [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:0000365 | Hearing loss | |
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| HP:0000717 | Autism | |
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| HP:0000787 | Kidney stones | |
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| HP:0000813 | Bicornuate uterus | |
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| HP:0000819 | Diabetes mellitus | |
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| HP:0000821 | Hypothyroidism | |
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| HP:0000833 | Glucose intolerance | |
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| HP:0000855 | Insulin resistance | |
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| HP:0000952 | Jaundice | "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators] |
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| HP:0001080 | Biliary tract abnormality | |
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| HP:0001249 | Mental retardation | |
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| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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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:0001369 | Arthritis | |
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| HP:0001397 | Hepatic steatosis | |
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| HP:0001562 | Oligohydramnios | |
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| HP:0001738 | Exocrine pancreatic insufficiency | |
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| HP:0001919 | Acute renal failure | |
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| HP:0001959 | Polydipsia | |
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| HP:0001994 | Renal Fanconi syndrome | |
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| HP:0001997 | Gout | |
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| HP:0002021 | Pyloric stenosis | |
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| HP:0002059 | Cerebral atrophy | |
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| HP:0002120 | Cerebral cortical atrophy | |
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| HP:0002149 | Hyperuricemia | "An abnormally high level of uric acid in the blood." [HPO:curators] |
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| HP:0002463 | Language impairment | |
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| HP:0002594 | Pancreatic hypoplasia | |
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| HP:0002910 | Elevated transaminases | "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators] |
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| HP:0003076 | Glycosuria | "The excretion of abnormal amounts of glucose in the urine, generally resulting in osmotic diuresis." [HPO:curators] |
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| HP:0003259 | Increased creatinine | |
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| HP:0003584 | Late onset | |
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| HP:0003674 | Age of onset | |
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| HP:0003774 | End stage renal disease | |
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| HP:0003812 | Phenotypic variability | |
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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:0004379 | Abnormality of alkaline phosphatase activity | "An abnormality of `alkaline phosphatase activity` (GO:0004035)." [HPO:probinson] |
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| HP:0004904 | Insulin-dependent maturity-onset diabetes of the young | |
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| HP:0005563 | Decreased numbers of glomeruli | |
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| HP:0005584 | Renal cell carcinoma | "Renal cell carcinoma (also known as hypernephroma) is the most common form of kidney cancer arising from the proximal renal tubule. The tissue of origin for renal cell carcinoma is the proximal renal tubular epithelium. Renal cell carcinoma can be classified as 1) clear cell carcinoma, 2) papillary carcinoma, 3) chromophobe renal carcinoma, and 4) collecting duct carcinoma." [HPO:curators] |
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| HP:0005692 | Joint hyperflexibility | |
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| HP:0005978 | Noninsulin-dependent diabetes mellitus | |
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| HP:0008678 | Renal hypoplasia/aplasia | |
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| HP:0009715 | Papillary cystadenoma of the epididymis | "Papillary cystadenomas of the epididymis are partially or completely cystic or solid lesions, between 1-3 cm in diameter and arise from the efferent duct epithelium of the head of epididymis." [HPO:curators] |
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| HP:0011968 | Feeding difficulties | "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
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| HP:0012092 | Abnormality of exocrine pancreas physiology | "A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes." [HPO:probinson] |
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| HP:0012093 | Abnormality of endocrine pancreas physiology | "A function abnormality of the endocrine pancreas." [HPO:probinson] |
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| HP:0012157 | Subcortical cerebral atrophy | "Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter." [HPO:probinson, pmid:20813998] |
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| HP:0012207 | Reduced sperm motility | "An abnormal reduction in the mobility of ejaculated sperm." [HPO:probinson] |
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| HP:0012873 | Absent vas deferens | "Aplasia (congenital absence) of the vas deferens." [HPO:probinson] |
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| HP:0030424 | Epididymal cyst | "A smooth, extratesticular, spherical cyst in the head of the epididymis." [HPO:probinson, pmid:14767330] |
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| HP:0030997 | Atretic vas deferens | "Abnormal closure or blockage of the vas deferens." [] |
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| HP:0100611 | Hypoplastic glomerulocystic kidney disease | |
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| HP:0100800 | Aplasia/Hypoplasia of the pancreas | "A congential underdevelopment (aplasia or hypoplasia) of the pancreas." [HPO:sdoelken] |
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| HP:0100801 | Pancreatic aplasia | "`Aplasia` (MPATH:58) of the `pancreas` (FMA:7198)." [HPO:sdoelken] |
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| HP:0100820 | Glomerulopathy | "Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron." [HPO:sdoelken] |
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