| 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: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:0000023 | Inguinal hernia | |
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| HP:0000083 | Renal failure | |
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| HP:0000090 | Nephronophthisis | |
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| HP:0000092 | Tubular atrophy | |
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| HP:0000103 | Polyuria | |
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| HP:0000105 | Enlarged kidneys | |
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| HP:0000108 | Corticomedullary cysts | |
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| HP:0000110 | Renal dysplasia | |
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| HP:0000113 | Polycystic kidney | |
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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:0000348 | High forehead | "An abnormally increased height of the forehead." [HPO:curators] |
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| HP:0000505 | Impaired vision | |
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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:0000529 | Progressive visual loss | |
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| HP:0000556 | Retinal dystrophy | |
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| HP:0000805 | Enuresis | "Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible." [HPO:sdoelken] |
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| HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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| HP:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
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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:0001276 | Hypertonia | |
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| HP:0001305 | Dandy-Walker malformation | "A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman s terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the body s ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal." [HPO:curators] |
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| HP:0001394 | Cirrhosis | |
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| HP:0001395 | Hepatic fibrosis | |
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| HP:0001396 | Cholestasis | |
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| HP:0001407 | Hepatic cysts | |
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| HP:0001408 | Bile duct proliferation | |
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| HP:0001409 | Portal hypertension | |
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| HP:0001433 | Hepatosplenomegaly | |
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| HP:0001561 | Polyhydramnios | |
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| HP:0001562 | Oligohydramnios | |
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| HP:0001631 | Atrial septal defect | "Atrial septal defect (ASD) is a congenital heart defect that enables blood flow between the left and right atria via the interatrial septum. The three common types of ASD are sinus venosus defects, ostium secundum defects, and ostium primum defects." [HPO:curators] |
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| HP:0001643 | Patent ductus arteriosus | |
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| HP:0001650 | Aortic stenosis | "The presence of a stenosis (narrowing) of the aortic valve." [HPO:curators] |
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| HP:0001667 | Right ventricular hypertrophy | "In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal. This feature can also be a component of the separat entity tetralogy of Fallot in which case it is generally agreed to be a secondary anomaly, as the level of hypertrophy generally increases with age." [HPO:curators] |
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| HP:0001696 | Situs inversus | "A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs." [HPO:curators] |
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| HP:0001732 | Abnormality of the pancreas | |
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| HP:0001737 | Pancreatic cysts | |
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| HP:0001746 | Asplenia | "Absence (aplasia) of the spleen." [HPO:curators] |
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| HP:0001748 | Polysplenia | "Polysplenia is a congenital disease manifested by multiple small accessory spleens." [HPO:curators] |
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| HP:0001830 | Postaxial polydactyly (feet) | "Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit." [HPO:curators] |
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| HP:0001959 | Polydipsia | |
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| HP:0002009 | Potter facies | |
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| HP:0002089 | Pulmonary hypoplasia | |
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| HP:0002190 | Choroid plexus cyst | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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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:0002612 | Congenital hepatic fibrosis | |
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| HP:0002613 | Biliary cirrhosis | |
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| HP:0003774 | End stage renal disease | |
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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:0004348 | Abnormality of bone mineral density | "This term applies to all changes in bone mineralisation and or ossification which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atypic calicfications of different origin and distribution. The overall amount of mineralisation of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient s age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ." [HPO:curators] |
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| HP:0005576 | Tubulointerstitial fibrosis | |
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| HP:0005999 | Ureteral atresia | |
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| HP:0007703 | Abnormal retinal pigmentation | |
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| HP:0008209 | Premature ovarian failure | |
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| HP:0010579 | Cone-shaped epiphyses | |
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| HP:0012440 | Abnormal biliary tract morphology | "A structural abnormality of the `biliary tree` (FMA:14665)." [HPO:probinson] |
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| HP:0030146 | Abnormal liver parenchyma morphology | |
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| HP:0100611 | Hypoplastic glomerulocystic kidney disease | |
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| HP:0100732 | Pancreatic fibrosis | |
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