| 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] |
Show
|
| 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] |
Show
|
| HP:0000012 | Urinary urgency | |
Show
|
| HP:0000020 | Urinary incontinence | "Loss of the ability to control the urinary bladder leading to involuntary urination." [HPO:sdoelken] |
Show
|
| HP:0000023 | Inguinal hernia | |
Show
|
| HP:0000047 | Hypospadias | "Displacement of the urethral opening on the ventral (inferior) surface of the penis." [HPO:curators] |
Show
|
| HP:0000126 | Hydronephrosis | |
Show
|
| 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] |
Show
|
| HP:0000235 | Abnormality of the fontanelles and cranial sutures | "Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments )." [HPO:curators] |
Show
|
| HP:0000238 | Hydrocephalus | |
Show
|
| HP:0000248 | Brachycephaly | "Brachycephaly refers to a short, wide head, which is often caused by premature closure of both coronal sutures." [HPO:curators] |
Show
|
| HP:0000256 | Macrocephaly | "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson] |
Show
|
| HP:0000269 | Prominent occiput | |
Show
|
| HP:0000316 | Hypertelorism | |
Show
|
| HP:0000329 | Facial hemangioma | "Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face." [HPO:curators] |
Show
|
| HP:0000337 | Broad forehead | "Abnormally large side-to-side distance of the forehead." [HPO:curators] |
Show
|
| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
Show
|
| HP:0000348 | High forehead | "An abnormally increased height of the forehead." [HPO:curators] |
Show
|
| 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] |
Show
|
| HP:0000384 | Preauricular skin tag | "A rudimentary tag of ear tissue often containing a core of cartilage and located just in front of the auricle (outer part of the ear)." [HPO:curators] |
Show
|
| HP:0000431 | Broad nasal bridge | "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators] |
Show
|
| HP:0000470 | Short neck | |
Show
|
| HP:0000494 | Downward slanting palpebral fissures | |
Show
|
| HP:0000501 | Glaucoma | "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:curators] |
Show
|
| HP:0000567 | Chorioretinal coloboma | |
Show
|
| HP:0000589 | Coloboma | "A developmental defect characterized by a cleft of some portion of the `eye` (FMA:54448`) or ocular adnexa." [HPO:probinson] |
Show
|
| HP:0000612 | Iris coloboma | "A `coloboma` (HP:0000589) of the `iris` (FMA:58235)." [HPO:probinson] |
Show
|
| HP:0000648 | Optic atrophy | |
Show
|
| HP:0000824 | Growth hormone deficiency | "Insufficient production of growth hormone, which is produced by the anterior pituitary gland." [HPO:curators] |
Show
|
| HP:0000835 | Adrenal hypoplasia | |
Show
|
| HP:0000921 | Missing ribs | |
Show
|
| HP:0001156 | Brachydactyly | |
Show
|
| HP:0001159 | Syndactyly | "Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
Show
|
| HP:0001161 | Polydactyly (hands) | |
Show
|
| HP:0001195 | Single umbilical artery | |
Show
|
| HP:0001249 | Mental retardation | |
Show
|
| 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] |
Show
|
| HP:0001258 | Spastic paraplegia | |
Show
|
| 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] |
Show
|
| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
Show
|
| 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] |
Show
|
| HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
Show
|
| HP:0001511 | Intrauterine growth retardation | |
Show
|
| HP:0001522 | Death in infancy | |
Show
|
| HP:0001629 | Ventricular septal defect | "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators] |
Show
|
| 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] |
Show
|
| HP:0001633 | Abnormality of the mitral valve | "An abnormality of the `mitral valve` (FMA:7235)." [HPO:probinson] |
Show
|
| HP:0001636 | Tetralogy of Fallot | "A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present." [HPO:curators] |
Show
|
| HP:0001642 | Pulmonic stenosis | "A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis). Infundibular pulmonic stenosis is mostly caused by overgrowth of the heart muscle wall (hypertrophy of the septoparietal trabeculae). Pulmonic stenosis is often seen as a part of Fallot s tetralogy, in which case the events leading to the formation of the overriding aorta are also believed to be a cause of the pulmonic stenosis. The pulmonic stenosis is the major cause of the malformations seen in patients with Fallot tetralogy, with the other associated malformations acting as compensatory mechanisms to the pulmonic stenosis. The degree of stenosis varies between individuals with TOF, and is the primary determinant of symptoms and severity. This malformation is infrequently described as sub-pulmonary stenosis or subpulmonary obstruction." [HPO:curators] |
Show
|
| HP:0001650 | Aortic stenosis | "The presence of a stenosis (narrowing) of the aortic valve." [HPO:curators] |
Show
|
| HP:0001702 | Abnormality of the tricuspid valve | "An abnormality of the `tricuspid valve` (FMA:7234)." [HPO:probinson] |
Show
|
| HP:0001719 | Double outlet right ventricle | |
Show
|
| HP:0001761 | Pes cavus | |
Show
|
| HP:0001804 | Hypoplastic fingernails | "Underdeveloped fingernails." [HPO:curators] |
Show
|
| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
Show
|
| HP:0002020 | Gastroesophageal reflux | |
Show
|
| HP:0002023 | Anal atresia | "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators] |
Show
|
| HP:0002061 | Lower limb spasticity | |
Show
|
| HP:0002064 | Spastic gait | |
Show
|
| HP:0002070 | Limb ataxia | |
Show
|
| HP:0002162 | Low posterior hairline | |
Show
|
| HP:0002166 | Decreased vibratory sense in the lower limbs | "A decrease in the ability to perceive vibration in the legs." [HPO:curators] |
Show
|
| HP:0002167 | Neurological speech impairment | |
Show
|
| HP:0002169 | Clonus | |
Show
|
| HP:0002205 | Recurrent respiratory infections | |
Show
|
| HP:0002269 | Neuronal migration disorder | |
Show
|
| HP:0002314 | Degeneration of the lateral corticospinal tracts | |
Show
|
| HP:0002355 | Difficulty walking | |
Show
|
| HP:0002406 | Limb dysmetria | |
Show
|
| 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] |
Show
|
| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
Show
|
| HP:0002705 | High, narrow palate | "The presence of a high and narrow palate." [HPO:curators] |
Show
|
| HP:0002808 | Kyphosis | |
Show
|
| HP:0002839 | Sphincter disturbances (bladder) | |
Show
|
| HP:0002937 | Hemivertebrae | |
Show
|
| HP:0003196 | Nasal hypoplasia | "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] |
Show
|
| HP:0003272 | Abnormality of the hip | "An abnormality of the hip joint or the surrounding anatomic region." [HPO:curators] |
Show
|
| HP:0003394 | Muscle cramps | |
Show
|
| HP:0003487 | Babinski sign | "Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract." [HPO:curators] |
Show
|
| HP:0003581 | Onset in adulthood | |
Show
|
| HP:0003587 | Insidious onset | |
Show
|
| HP:0003676 | Progressive disorder | |
Show
|
| 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] |
Show
|
| HP:0004383 | Hypoplastic left heart | |
Show
|
| HP:0004397 | Ectopic anus | "Abnormal displacement or malposition of the anus." [HPO:curators] |
Show
|
| HP:0005280 | Depressed nasal root and bridge | |
Show
|
| HP:0006101 | Finger syndactyly | "Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
Show
|
| HP:0006695 | Tricuspid and mitral valves are replaced by a single inlet valve | |
Show
|
| HP:0006709 | Aplasia/Hypoplasia of the nipples | |
Show
|
| HP:0006986 | Upper limb spasticity | |
Show
|
| HP:0007020 | Progressive spastic paraplegia | |
Show
|
| HP:0007291 | Posterior fossa cysts | |
Show
|
| HP:0007340 | Lower limb muscle weakness | "Weakness of the muscles of the legs." [HPO:curators] |
Show
|
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
Show
|
| HP:0008075 | Progressive pes cavus | |
Show
|
| HP:0008736 | Hypoplasia of penis | |
Show
|
| HP:0008872 | Feeding problems in infancy | |
Show
|
| HP:0008897 | Growth retardation, progressive | |
Show
|
| HP:0009049 | Peroneal muscle atrophy | "Atrophy of the peroneous muscles, `peroneus longus (also known as Fibularis longus) (FMA:22539), `Peroneus brevis (also known as fibularis brevis` (FMA:22540), and `Peroneus tertius (also known as fibularis tertius` (FMA:22538)." [HPO:probinson] |
Show
|
| HP:0100561 | Spinal cord lesions | |
Show
|
