| 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:0000020 | Urinary incontinence | "Loss of the ability to control the urinary bladder leading to involuntary urination." [HPO:sdoelken] |
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| HP:0000077 | Abnormality of the kidneys | "An abnormality of the kidneys, the paired organs whose primary function is the production of urine." [HPO:curators] |
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| HP:0000169 | Gingival fibromatosis | "Gingival fibromatosis is characterized by a slowly progressive benign enlargement of the oral gingival tissues. The condition results in the teeth being partially or totally engulfed by keratinized gingiva, causing aesthetic and functional problems. Both genetic and pharmacologically induced forms of gingival fibromatosis are known. The most common genetic form, hereditary gingival fibromatosis (HGF), is usually transmitted as an autosomal dominant trait, although sporadic cases are common and autosomal recessive inheritance has been reported." [HPO:curators] |
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| HP:0000219 | Thin upper lip | |
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| HP:0000233 | Thin vermillion border | |
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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:0000270 | Delayed closure of fontanelles | "Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age." [HPO:curators] |
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| HP:0000298 | Mask-like facies | |
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| HP:0000307 | Pointed chin | |
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| HP:0000327 | Hypoplasia of the maxilla | "Underdevelopment of the `Maxilla` (FMA:9711)." [HPO:probinson] |
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| HP:0000336 | Prominent supraorbital ridges | "Abnormal prominence of the supraorbital ridges, which are bony ridge located above the eye sockets in the area of the eyebrows." [HPO:curators] |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| HP:0000426 | Prominent nasal bridge | |
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| HP:0000431 | Broad nasal bridge | "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators] |
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| HP:0000460 | Narrow nose | |
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| HP:0000478 | Abnormality of the eyes | "Any abnormality of the `eyes` (FMA:54448), including location, spacing, and intraocular abnormalities." [HPO:curators] |
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| HP:0000494 | Downward slanting palpebral fissures | |
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| HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
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| HP:0000520 | Proptosis | |
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| HP:0000540 | Hypermetropia | |
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| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
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| HP:0000684 | Delayed dentition | "Delayed eruption of teeth." [HPO:curators] |
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| HP:0000709 | Psychosis | "A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs." [HPO:curators] |
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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:0000726 | Dementia | |
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| HP:0000739 | Anxiety | |
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| HP:0000765 | Abnormality of the thorax | "Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs)." [HPO:curators] |
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| HP:0000929 | Abnormality of the skull | "An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones." [HPO:curators] |
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| HP:0000934 | Chondrocalcinosis | |
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| HP:0000938 | Osteopenia | "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:curators] |
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| HP:0000944 | Abnormality of the metaphyses | |
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| HP:0000951 | Abnormality of the skin | "An abnormality of the `skin` (FMA:7163)." [HPO:probinson] |
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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:0000963 | Thin skin | |
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| HP:0000974 | Hyperextensible skin | |
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| HP:0001030 | Fragile skin | |
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| HP:0001156 | Brachydactyly | |
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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: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:0001268 | Mental deterioration | |
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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:0001300 | Parkinsonism | |
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| HP:0001332 | Dystonia | "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [HPO:curators] |
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| HP:0001337 | Tremor | "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators] |
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| HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
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| HP:0001376 | Decreased mobility of joints | |
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| HP:0001482 | Subcutaneous nodules | |
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| HP:0001507 | Growth abnormality | |
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| HP:0001511 | Intrauterine growth retardation | |
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| HP:0001548 | Overgrowth | |
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| HP:0001595 | Hair abnormality | |
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| HP:0001833 | Large feet | |
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| HP:0001873 | Thrombocytopenia | |
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| HP:0001880 | Eosinophilia | "Increased count of eosinophile granulocytes in the blood." [HPO:sdoelken] |
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| HP:0001933 | Subcutaneous hemorrhage | |
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| HP:0002063 | Rigidity | |
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| HP:0002067 | Bradykinesia | "Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement)." [HPO:curators] |
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| HP:0002072 | Chorea | "Chorea (Greek for dance ) refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion." [HPO:curators] |
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| HP:0002075 | Dysdiadochokinesis | "An inability to perform rapidly alternating movements, such as rhythmically tapping the fingers on the knee, generally related to a cerebellar lesion." [HPO:curators] |
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| HP:0002076 | Migraine | |
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| HP:0002119 | Ventriculomegaly | |
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| HP:0002135 | Basal ganglia calcification | "Calcification affecting one or more structures of the basal ganglia." [HPO:curators] |
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| HP:0002172 | Postural instability | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002269 | Neuronal migration disorder | |
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| HP:0002305 | Athetosis | "Athetosis (from the Greek word for changeable or unfixed ) refers to an inability to sustain the muscles of the fingers, toes, tongue, or any other group of muscles in a fixed position. Instead, posture is interrupted by slow, purposeless involuntary movements." [HPO:curators] |
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| HP:0002344 | Progressive neurologic deterioration | |
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| HP:0002354 | Memory impairment | |
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| HP:0002406 | Limb dysmetria | |
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| HP:0002461 | Dense calcifications in the cerebellar dentate nucleus | |
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| HP:0002504 | Neuropathologic examination shows calcification of the small brain vessels | |
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| HP:0002514 | Cerebral calcification | "The presence of calcification within brain structures." [HPO:curators] |
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| HP:0002575 | Tracheoesophageal fistula | "An abnormal connection (fistula) between the esophagus and the trachea." [HPO:curators] |
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| HP:0002645 | Wormian bones | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002750 | Delayed skeletal maturation | "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] |
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| HP:0002797 | Osteolysis | |
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| HP:0002894 | Pancreatic cancer | |
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| HP:0002925 | Increased serum thyroid-stimulating hormone (TSH) | |
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| HP:0002944 | Thoracolumbar scoliosis | |
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| HP:0003011 | Abnormality of musculature | "Abnormality originating in one or more muscles." [HPO:curators] |
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| HP:0003072 | Hypercalcemia | "A level of blood calcium that is higher than normal." [HPO:curators] |
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| HP:0003100 | Thin long bones | |
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| HP:0003549 | Abnormality of connective tissue | "Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat)." [HPO:curators] |
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| HP:0003581 | Onset in adulthood | |
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| HP:0003676 | Progressive disorder | |
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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:0005107 | Abnormality of the sacrum | |
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| HP:0005214 | Intestinal obstruction | |
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| HP:0005547 | Myeloproliferative disorder | |
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| HP:0006782 | Malignant eosinophil proliferation | |
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| HP:0007256 | Mild pyramidal signs | |
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| HP:0007400 | Irregular hyperpigmentation | |
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| HP:0007957 | Variable degree of corneal opacities | |
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| HP:0008069 | Neoplasia of the skin | |
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| HP:0008070 | Sparse hair | |
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| HP:0009771 | Osteolytic defects of the phalanges of the hand | "Dissolution or degeneration of bone tissue of the phalanges of the hand." [HPO:curators] |
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| HP:0010539 | Thin calvarium | "The presence of an abnormally thin calvarium." [HPO:curators] |
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| HP:0010614 | Fibroma | "Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term "fibroblastic" or "fibromatous" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors." [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:0011800 | Midface retrusion | "Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle." [DDD:jclayton-smith] |
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| HP:0012062 | Bone cyst | "A fluid filled cavity that develops with a bone." [HPO:probinson] |
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| HP:0100526 | Neoplasia of the lungs | |
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| HP:0100578 | Lipoatrophy | "Localized loss of fat tissue." [HPO:sdoelken] |
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| HP:0100835 | Benign neoplasm of the central nervous system | |
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| HP:0200042 | skin ulcer | "A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat." [HPO:SKOEHLER] |
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