| 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:0000505 | Impaired vision | |
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| HP:0000716 | Depression | "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators] |
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| HP:0000737 | Irritability | |
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| HP:0000738 | Hallucinations | |
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| HP:0000739 | Anxiety | |
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| HP:0001123 | Visual field defects | |
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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:0001260 | Dysarthria | "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators] |
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| HP:0001276 | Hypertonia | |
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| HP:0001288 | Gait disturbance | "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators] |
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| HP:0001369 | Arthritis | |
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| HP:0001371 | Contractures | |
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| HP:0001402 | Hepatocellular carcinoma | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001518 | Low birth weight | |
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| HP:0001522 | Death in infancy | |
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| HP:0001824 | Weight loss | |
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| HP:0002017 | Nausea and vomiting | |
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| HP:0002019 | Constipation | |
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| HP:0002024 | Malabsorption | |
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| HP:0002027 | Abdominal pain | |
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| HP:0002041 | Intractable diarrhea | |
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| HP:0002076 | Migraine | |
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| HP:0002239 | Gastrointestinal hemorrhage | |
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| HP:0002354 | Memory impairment | |
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| HP:0002376 | Developmental regression | |
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| HP:0002516 | Increased intracranial pressure | |
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| HP:0002671 | Basal cell carcinoma | |
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| HP:0002893 | Pituitary adenoma | |
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| HP:0003003 | Colon cancer | |
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| HP:0003006 | Neuroblastoma | "Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum." [HPO:curators] |
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| HP:0003401 | Paresthesia | "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [HPO:curators] |
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| HP:0004374 | Hemiplegia/hemiparesis | "Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength." [HPO:curators] |
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| HP:0006716 | Hereditary nonpolyposis colorectal carcinoma | |
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| HP:0006725 | Pancreatic adenocarcinoma | |
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| HP:0007018 | Attention deficit hyperactivity disorder | "Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient." [HPO:curators] |
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| HP:0007256 | Mild pyramidal signs | |
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| HP:0010524 | Agnosia | "Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions." [HPO:curators] |
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| HP:0010526 | Dysgraphia | "A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment." [HPO:curators] |
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| HP:0010622 | Neoplasia of the skeletal system | "`Neoplasia` (HP:0002664) affecting the `skeleton` (FMA:23875)." [HPO:probinson] |
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| HP:0010786 | Urinary tract neoplasia | |
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| HP:0011473 | Villous atrophy | "The enteric villi are atrophic or absent." [HPO:probinson] |
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| HP:0012113 | Abnormality of creatine metabolism | "An anomaly of the concentration or homeostasis of `creatine` (CHEBI:16919). Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells." [HPO:probinson] |
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| HP:0012174 | Glioblastoma multiforme | "A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation." [HPO:probinson, pmid:10841526] |
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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:0100031 | Neoplasm of the thyroid gland | "The presence of a `neoplasm` (MPATH:218) of the `thyroid gland` (FMA:9603)." [HPO:probinson] |
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| HP:0100571 | Cardiac diverticulum | "A cardiac diverticulum is a rare congential malformation which is either fibrous or muscular." [HPO:sdoelken] |
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| HP:0100576 | Amaurosis fugax | "A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition." [HPO:sdoelken] |
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| HP:0100613 | Death in early adulthood | |
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| HP:0100615 | Ovarian neoplasm | "The presence of a `neoplasm` (MPATH:218) the `ovary` (FMA:7209)." [HPO:probinson] |
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| HP:0100660 | Dyskinesis | "A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements." [HPO:sdoelken] |
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| HP:0100743 | Neoplasm of the rectum | |
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| HP:0100835 | Benign neoplasm of the central nervous system | |
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| HP:0200008 | Multiple intestinal polyps | |
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