| 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] |
Show
|
| HP:0000028 | Cryptorchidism | "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators] |
Show
|
| HP:0000047 | Hypospadias | "Displacement of the urethral opening on the ventral (inferior) surface of the penis." [HPO:curators] |
Show
|
| HP:0000054 | Micropenis | |
Show
|
| HP:0000164 | Abnormality of the teeth | "Any abnormality of the primary (deciduous) or permanent teeth." [HPO:curators] |
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:0000219 | Thin upper lip | |
Show
|
| 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] |
Show
|
| HP:0000280 | Coarse facial features | |
Show
|
| HP:0000316 | Hypertelorism | |
Show
|
| HP:0000322 | Short philtrum | |
Show
|
| HP:0000325 | Triangular facies | |
Show
|
| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
Show
|
| HP:0000365 | Hearing loss | |
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:0000455 | Broad nasal tip | |
Show
|
| HP:0000476 | Cystic hygroma of the neck | "A cystic lymphatic lesion of the neck." [HPO:curators] |
Show
|
| HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
Show
|
| HP:0000581 | Blepharophimosis | "Reduced width of the palpebral fissures." [HPO:sdoelken] |
Show
|
| HP:0000582 | Upslanting palpebral fissures | |
Show
|
| HP:0000729 | Pervasive developmental disorder | |
Show
|
| HP:0000750 | Impaired language development | |
Show
|
| HP:0000776 | Diaphragmatic hernia | "Diaphragmatic hernia is the result of a developmental defect causing an abnormal opening in the diaphragm, through which abdominal organs (stomach, spleen, liver, and intestines) can protrude into the thoracic cavity. This usually causes respiratory distress in the newborn period." [HPO:curators] |
Show
|
| HP:0000954 | Transverse palmar creases | "The presence of a single palmar crease (instead of the two palmar creases that are typically present)." [HPO:curators] |
Show
|
| HP:0001195 | Single umbilical artery | |
Show
|
| 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] |
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:0001508 | Failure to thrive | |
Show
|
| HP:0001511 | Intrauterine growth retardation | |
Show
|
| HP:0001518 | Low birth weight | |
Show
|
| HP:0001643 | Patent ductus arteriosus | |
Show
|
| HP:0001647 | Bicuspid aortic valve | "The presence of a bicuspid `aortic valve` (FMA:7236)." [HPO:probinson] |
Show
|
| HP:0001671 | Abnormality of the cardiac septa | |
Show
|
| HP:0001680 | Coarctation of aorta | "Coarctation of the aorta is a narrowing or constriction of the aorta just distal to the origin of the left subclavian artery." [HPO:curators] |
Show
|
| HP:0001718 | Mitral stenosis | |
Show
|
| 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] |
Show
|
| HP:0001792 | Nail hypoplasia | "Underdeveloped `fingernails` (FMA:54327) or `toenails` (FMA:54328)." [HPO:probinson] |
Show
|
| HP:0002089 | Pulmonary hypoplasia | |
Show
|
| HP:0002761 | Generalized joint laxity | "Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body." [HPO:curators] |
Show
|
| HP:0002827 | Dislocated hips | |
Show
|
| HP:0002857 | Genu valgum | |
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:0004471 | Aplasia cutis congenita over the scalp vertex | "A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline." [HPO:curators] |
Show
|
| HP:0005469 | Occipital plagiocephaly | "Occipital plagiocephaly can result from fusion or sclerosis of the lambdoid suture. If unilateral, this is accompanied by unilateral occipital flattening and bulging of the ispilateral frontal bone." [HPO:curators] |
Show
|
| HP:0005709 | Cutaneous syndactyly of fingers 3 and 4 and toes 2 and 3 | |
Show
|
| 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] |
Show
|
| HP:0008897 | Growth retardation, progressive | |
Show
|
| HP:0009882 | Hypoplasia of the distal phalanges of the hand | |
Show
|
| HP:0010297 | Bifid tongue | "Tongue with a median apical indentation or fork." [pmid:19125428] |
Show
|
| HP:0011560 | Mitral atresia | "A congenital defect with failure to open of the mitral valve orifice." [DDD:dbrown] |
Show
|
| HP:0011651 | Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis | |
Show
|
| HP:0012303 | Abnormality of the aortic arch | "An anomaly of the `arch of aorta`(FMA:3768)." [HPO:probinson] |
Show
|
| HP:0030353 | Decreased serum insulin-like growth factor 1 | "A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation." [HPO:probinson] |
Show
|
| HP:0030918 | Low 1-minute APGAR score | |
Show
|
| HP:0040019 | Finger clinodactyly | |
Show
|
| HP:0100542 | Abnormal localization of kidneys | |
Show
|
| HP:0200055 | Small hands | |
Show
|
