| 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:0000008 | Abnormality of female internal genitalia | |
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| HP:0000093 | Proteinuria | |
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| HP:0000096 | Glomerulosclerosis | |
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| HP:0000104 | Renal agenesis | |
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| HP:0000110 | Renal dysplasia | |
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| HP:0000148 | Vaginal atresia | |
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| HP:0000153 | Abnormality of the mouth | "An abnormality of the `mouth` (FMA:49184)." [HPO:probinson] |
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| HP:0000175 | Cleft palate | "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators] |
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| HP:0000179 | Prominent lower lip | "Increased thickness of the lower lip, leading to a prominent appearance of the lower lip." [HPO:curators] |
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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:0000278 | Retrognathia | |
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| HP:0000286 | Epicanthus | "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators] |
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| HP:0000316 | Hypertelorism | |
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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:0000405 | Hearing loss, conductive | |
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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:0000457 | Flat nose | |
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| HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
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| HP:0000494 | Downward slanting palpebral fissures | |
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| HP:0000519 | Congenital cataract | "A congenital `cataract` (HP:0000518)." [HPO:probinson] |
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| HP:0000526 | Aniridia | "Congenital absence of the iris." [HPO:curators] |
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| HP:0000574 | Thick eyebrows | |
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| HP:0000740 | Anxiety (with pheochromocytoma) | |
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| HP:0000767 | Pectus excavatum | "A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance." [HPO:curators] |
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| HP:0000786 | Primary amenorrhea | |
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| HP:0000790 | Hematuria | "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators] |
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| HP:0000813 | Bicornuate uterus | |
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| HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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| HP:0000843 | Hyperparathyroidism | |
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| HP:0000875 | Episodic hypertension | |
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| HP:0000951 | Abnormality of the skin | "An abnormality of the `skin` (FMA:7163)." [HPO:probinson] |
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| HP:0000957 | Cafe-au-lait spots | |
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| HP:0000975 | Hyperhidrosis | "An abnormally increased perspiration." [HPO:probinson] |
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| HP:0000980 | Pallor | |
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| HP:0001028 | Hemangiomas | "The presence of multiple hemangiomas. A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma)." [HPO:curators] |
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| HP:0001069 | Hyperhidrosis, episodic | |
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| HP:0001095 | Hypertensive retinopathy | |
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| HP:0001181 | Adducted thumbs | |
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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: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: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:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001293 | Cranial nerve compression | |
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| HP:0001337 | Tremor | "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators] |
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| HP:0001342 | Cerebral hemorrhage | "A cerebral hemorrhage (or intracerebral hemorrhage, ICH), is a type of intracranial hemorrhage that occurs within the brain tissue itself." [HPO:curators] |
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| HP:0001388 | Joint laxity | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001518 | Low birth weight | |
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| HP:0001519 | Dolichostenomelia | "A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim." [HPO:curators] |
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| HP:0001522 | Death in infancy | |
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| HP:0001531 | Failure to thrive in infancy | |
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| HP:0001558 | Decreased fetal movement | "An abnormal reduction in quantity or strength of fetal movements." [HPO:curators] |
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| HP:0001561 | Polyhydramnios | |
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| HP:0001562 | Oligohydramnios | |
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| HP:0001563 | Fetal polyuria | |
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| HP:0001574 | Integument abnormality | |
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| HP:0001605 | Vocal cord paralysis | |
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| HP:0001618 | Dysphonia | |
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| HP:0001626 | Abnormality of the cardiovascular system | "Any abnormality of the heart or vasculature." [HPO:curators] |
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| HP:0001635 | Congestive heart failure | "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators] |
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| HP:0001649 | Tachycardia | "A rapid heartrate that exceeds the range of the normal resting heartrate for age." [HPO:curators] |
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| HP:0001761 | Pes cavus | |
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| HP:0001762 | Talipes equinovarus | "Also called clubfoot typically has 4 main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus." [HPO:curators] |
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| HP:0001824 | Weight loss | |
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| HP:0001920 | Renal artery stenosis | |
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| HP:0001958 | Nonketotic hypoglycemia | |
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| HP:0001962 | Palpitations | |
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| HP:0002009 | Potter facies | |
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| HP:0002014 | Diarrhea | |
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| HP:0002017 | Nausea and vomiting | |
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| HP:0002018 | Nausea | |
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| HP:0002019 | Constipation | |
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| HP:0002020 | Gastroesophageal reflux | |
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| HP:0002027 | Abdominal pain | |
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| HP:0002089 | Pulmonary hypoplasia | |
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| HP:0002242 | Abnormality of the intestines | |
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| HP:0002251 | Congenital megacolon | "An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon." [HPO:curators] |
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| HP:0002253 | Colon diverticula | |
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| HP:0002271 | Autonomic dysregulation | |
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| HP:0002331 | Headache (with pheochromocytoma) | |
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| HP:0002459 | Dysautonomia | |
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| HP:0002574 | Episodic abdominal pain | |
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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:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002664 | Neoplasia | "An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant tumour or neoplasm." [HPO:curators] |
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| HP:0002666 | Pheochromocytoma | "Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines." [HPO:curators] |
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| HP:0002705 | High, narrow palate | "The presence of a high and narrow palate." [HPO:curators] |
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| HP:0002791 | Hypoventilation | |
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| HP:0002808 | Kyphosis | |
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| HP:0002864 | Paragangliomas, head and neck | |
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| HP:0002865 | Medullary thyroid carcinoma | |
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| HP:0002897 | Parathyroid adenoma | |
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| HP:0003005 | Ganglioneuroma | |
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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:0003072 | Hypercalcemia | "A level of blood calcium that is higher than normal." [HPO:curators] |
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| HP:0003118 | Increased serum cortisol | |
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| HP:0003198 | Myopathy | |
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| HP:0003307 | Hyperlordosis | |
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| HP:0003345 | Elevated urinary norepinephrine | |
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| HP:0003528 | Elevated calcitonin | |
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| HP:0003574 | Positive regitine test | |
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| HP:0003577 | Onset at birth | |
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| HP:0003639 | Increased urinary epinephrine | |
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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:0004370 | Abnormality of temperature regulation | |
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| HP:0005107 | Abnormality of the sacrum | |
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| HP:0005214 | Intestinal obstruction | |
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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:0005957 | Breathing dysregulation | |
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| HP:0005994 | Nodular goiter | |
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| HP:0006461 | Proximal femoral epiphysiolysis | "Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal femoral epiphysis on the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt." [HPO:curators] |
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| HP:0006737 | Pheochromocytoma, extraadrenal | "Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia." [HPO:curators] |
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| HP:0006747 | Ganglioneuroblastoma | |
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| HP:0006748 | Pheochromocytoma, adrenal | "Pheochromocytoma originating from the adrenal medulla." [HPO:curators] |
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| HP:0007110 | Central hypoventilation | |
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| HP:0008208 | Parathyroid hyperplasia | "An absolute increase in the mass of the parenchymal cells of the parathyroid gland leading to an enlargement of all four parathyroid glands." [HPO:curators] |
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| HP:0008629 | Pulsatile tinnitus | "Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation. Pulsatile tinnitus may be associated with vascular abnormalities such as arterioevenous shunts or glomus tumors or the jugular vein, arterial bruits related to a high-riding carotid artery (close to the auditory areas) or carotid stenosis, or venous abnormalities such as a dehiscent jugular bulb or to hypertension. Finally, in some patients, mechanical abnormalities such a spatulous eustachian tubes, palatomyoclonus (small spasms of muscles in the soft palate area), or idiopathic stapedial muscle spasm may represent the underlying cause of pulsatile tinnitus." [HPO:curators] |
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| HP:0009711 | Retinal hemangioblastoma | "Retinal hemangioblastoma is a benign vascular tumor of the retina without any neoplastic characteristics. They have been called "retinal angiomas" and "retinal hemangiomas" but hemangioblastoma is the preferred term since they are histologically identical to lesions found in the CNS." [HPO:curators] |
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| HP:0010497 | Sirenomelia | "A developmental defect in which the legs are fused together." [HPO:curators] |
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| HP:0010532 | Paroxysmal vertigo | "Paroxysmal episodes of vertigo." [HPO:curators] |
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| HP:0010536 | Central sleep apnea | "Sleep apnea resulting from a transient abolition of the central drive to the ventilatory muscles." [HPO:curators] |
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| HP:0011703 | Sinus tachycardia | "Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands." [HPO:probinson, pmid:15763524] |
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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:0011979 | Elevated urinary dopamine | "An increased concentration of `dopamine` (CHEBI:18243) in the `urine` (FMA:12274)." [HPO:probinson] |
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| HP:0012222 | Arachnoid hemangiomatosis | "The presence of multiple hemangiomas in the arachnoid." [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:0025269 | Panic attack | "A sudden episode of intense fear in a situation in which there is no danger or apparent cause. The panic attack is accompanied by symptoms such as palpitations, sweating and chills or hot flushes. There may be a sensation of dyspnea (being out of breath), chest pain, or abdominal distress. Some indiviudals with panic attacks may experience depersonalization, a fear of going crazy, or a fear of dying." [] |
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| HP:0030680 | Abnormality of cardiovascular system morphology | "Any structural anomaly of the heart and great vessels." [] |
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| HP:0031284 | Flushing | "Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin." [] |
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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:0100335 | Non-midline cleft lip | |
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| HP:0100589 | Urogenital fistula | "The presence of a `fistula` (MPATH:70) affecting the `genitourinary system` (FMA:280610)." [HPO:probinson] |
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| HP:0100749 | Chest pain | |
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| HP:0100806 | Sepsis | |
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| HP:0200008 | Multiple intestinal polyps | |
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