| 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: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: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:0000105 | Enlarged kidneys | |
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| HP:0000113 | Polycystic kidney | |
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| HP:0000126 | Hydronephrosis | |
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| HP:0000189 | Narrow palate | "Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective)." [pmid:19125428] |
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| HP:0000218 | High palate | "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428] |
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| HP:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
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| HP:0000340 | Sloping forehead | "A form of the forehead that slopes from top to bottom in an anterior direction." [HPO:curators] |
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| HP:0000348 | High forehead | "An abnormally increased height of the forehead." [HPO:curators] |
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| HP:0000358 | Posteriorly rotated ears | "A type of `abnormal location of the ears` (HP:0000357) in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front)." [HPO:probinson] |
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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:0000396 | Overfolded helices | "A condition in which the upper edge of the ear is folded over to a greater degree than normal." [HPO:curators] |
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| HP:0000414 | Bulbous nose | |
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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:0001182 | Tapered fingers | |
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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:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] |
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| HP:0001254 | Lethargy | |
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| HP:0001259 | Coma | |
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| HP:0001274 | Agenesis of corpus callosum | "Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [HPO:curators] |
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| HP:0001319 | Neonatal hypotonia | "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [HPO:curators] |
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| HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
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| HP:0001399 | Hepatic failure | |
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| HP:0001403 | Macrovesicular steatosis | |
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| HP:0001522 | Death in infancy | |
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| HP:0001562 | Oligohydramnios | |
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| HP:0001638 | Cardiomyopathy | |
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| HP:0001640 | Cardiomegaly | |
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| HP:0001644 | Dilated cardiomyopathy | |
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| HP:0001760 | Abnormality of the feet | "An abnormality of the feet (foot deformity) is a disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, Congenital vertical talus (rocker bottom foot) & etc." [HPO:curators] |
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| HP:0001800 | Hypoplastic toenails | "Underdeveloped toenails." [HPO:curators] |
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| HP:0001958 | Nonketotic hypoglycemia | |
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| HP:0001985 | Hypoketotic hypoglycemia | |
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| HP:0001987 | Hyperammonemia | |
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| HP:0002013 | Vomiting | |
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| HP:0002017 | Nausea and vomiting | |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002098 | Respiratory distress | |
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| HP:0002104 | Apnea | "Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event." [HPO:curators] |
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| HP:0002119 | Ventriculomegaly | |
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| HP:0002126 | Polymicrogyria | "A congenital abnormality of the cerebral hemisphere characterized by an excessive number of small gyri (convolutions) on the surface of the brain." [HPO:curators] |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002878 | Early respiratory failure | |
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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:0002913 | Myoglobinuria | |
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| HP:0002987 | Elbow contractures | |
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| HP:0003198 | Myopathy | |
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| HP:0003201 | Rhabdomyolysis | |
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| HP:0003236 | Elevated serum creatine phosphokinase | |
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| HP:0003326 | Myalgia | "A tendency to experience muscle pain." [HPO:curators] |
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| HP:0003394 | Muscle cramps | |
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| HP:0003455 | Elevated long chain fatty acids | |
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| HP:0003552 | Muscle stiffness | |
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| HP:0003573 | Increased total bilirubin | |
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| HP:0003593 | Early onset | |
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| HP:0005943 | Respiratory arrest | |
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| HP:0006380 | Knee flexion deformities | |
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| HP:0006559 | Liver calcifications | |
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| HP:0006610 | Wide intermamillary distance | |
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| HP:0006799 | Basal ganglia cysts | |
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| HP:0007023 | Antenatal intracerebral hemorrhage | |
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| HP:0007229 | Intracerebral periventricular calcifications | |
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| HP:0008293 | Long-chain dicarboxylic aciduria | |
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| HP:0008315 | Decreased plasma total and free carnitine | |
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| HP:0008872 | Feeding problems in infancy | |
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| HP:0009058 | Lipid accumulation in skeletal muscle | "An abnormal accumulation of lipids in skeletal muscle." [HPO:curators] |
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| HP:0010511 | Increased length of toes | "The presence of abnormally long toes." [HPO:curators] |
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| HP:0011220 | Prominent forehead | "Forward prominence of the entire forehead, due to protrusion of the frontal bone." [pmid:19125436] |
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| HP:0011309 | Tapered toe | "The gradual reduction in girth of the digit from proximal to distal." [pmid:19125433] |
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| HP:0011675 | Arrhythmia | "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." [DDD:dbrown, pmid:19063792] |
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| HP:0011936 | Decreased plasma total carnitine | "A decreased concentration of total `carnitine` (CHEBI:17126) in the `blood` (FMA:9670)." [HPO:probinson] |
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| HP:0012378 | Fatigue | "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] |
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| HP:0012639 | Abnormality of nervous system morphology | "A structural anomaly of the `nervous system` (FMA:7157)." [HPO:probinson] |
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| HP:0045016 | Elevated serum long-chain fatty acids | |
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