| 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:0000085 | Horseshoe kidney | |
Show
|
| HP:0000151 | Absent uterus | |
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:0000248 | Brachycephaly | "Brachycephaly refers to a short, wide head, which is often caused by premature closure of both coronal sutures." [HPO:curators] |
Show
|
| HP:0000272 | Malar hypoplasia | "Underdeveloped midface region." [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:0000368 | Low-set, posteriorly rotated ears | |
Show
|
| HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
Show
|
| HP:0000463 | Nares, anteverted | "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject." [pmid:19152422] |
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:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
Show
|
| HP:0000891 | Cervical ribs | |
Show
|
| HP:0000895 | Hooked clavicles | |
Show
|
| HP:0001051 | Seborrheic dermatitis | "Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk." [HPO:curators] |
Show
|
| HP:0001181 | Adducted thumbs | |
Show
|
| HP:0001249 | Mental retardation | |
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:0001270 | Motor retardation | |
Show
|
| HP:0001321 | Cerebellar hypoplasia | |
Show
|
| HP:0001433 | Hepatosplenomegaly | |
Show
|
| HP:0001498 | Carpal bone hypoplasia | |
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: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: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:0001737 | Pancreatic cysts | |
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:0001873 | Thrombocytopenia | |
Show
|
| HP:0001880 | Eosinophilia | "Increased count of eosinophile granulocytes in the blood." [HPO:sdoelken] |
Show
|
| HP:0001903 | Anemia | |
Show
|
| HP:0001928 | Abnormality of coagulation | |
Show
|
| HP:0002188 | Delayed myelination | |
Show
|
| HP:0002245 | Meckel diverticulum | |
Show
|
| HP:0002389 | Cavum septum pellucidum | "If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space." [HPO:curators] |
Show
|
| HP:0002414 | Spina bifida | "Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open." [HPO:curators] |
Show
|
| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
Show
|
| HP:0002673 | Coxa valga | "Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults)." [HPO:curators] |
Show
|
| HP:0002827 | Dislocated hips | |
Show
|
| HP:0002949 | Fused cervical vertebrae | |
Show
|
| HP:0002970 | Genu varum | |
Show
|
| HP:0002990 | Fibular aplasia | "Absence of the fibula." [HPO:curators] |
Show
|
| HP:0002999 | Dislocation of patella | "The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove." [HPO:curators] |
Show
|
| HP:0003043 | Abnormality of the shoulder | "An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula." [HPO:curators] |
Show
|
| HP:0003974 | Absent ossification/absence of radius | |
Show
|
| HP:0004209 | Clinodactyly of the 5th finger | "Clinodactyly refers to a bending or curvature of the `fifth finger` (FMA:24949) in the radial direction (i.e., towards the 4th finger)." [HPO:curators] |
Show
|
| HP:0004313 | Reduced immunoglobulin levels | |
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:0004717 | Axial malrotation of the kidney | |
Show
|
| HP:0004977 | bilateral absence of radius | |
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:0006443 | Patellar aplasia | "Absence of the patella." [HPO:curators] |
Show
|
| HP:0006495 | Aplasia/Hypoplasia of the ulna | "Absence or underdevelopment of the ulna." [HPO:curators] |
Show
|
| HP:0006498 | Aplasia/Hypoplasia of the patella | "Absence or underdevelopment of the patella." [HPO:curators] |
Show
|
| HP:0006507 | Aplasia/Hypoplasia of the humerus | "Absence or underdevelopment of the humerus." [HPO:curators] |
Show
|
| HP:0007413 | Nevus flammeus of the forehead | "`Naevus flammeus` (HP:0001052) localised in the skin of the forehead." [HPO:sdoelken] |
Show
|
| HP:0007514 | Edema of the dorsum of hands and feet | "An abnormal accumulation of fluid beneath the skin on the back of the hands and feet." [HPO:curators] |
Show
|
| HP:0008952 | Shoulder muscle hypoplasia | "Underdevelopment of muscles of the shoulder." [HPO:curators] |
Show
|
| HP:0009702 | Synostosis involving the carpal bones | |
Show
|
| HP:0009803 | Hypoplastic/small phalanges of the hand | |
Show
|
| HP:0009829 | Phocomelia | "Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia)." [HPO:curators] |
Show
|
| HP:0011304 | Broad thumb | "Increased thumb width without increased dorso-ventral dimension." [pmid:19125433] |
Show
|
| HP:0012098 | Edema of the dorsum of feet | "An abnormal accumulation of fluid beneath the skin on the back of the feet." [HPO:probinson] |
Show
|
| HP:0100327 | Cow milk allergy | "A Hypersensitivity in form of an adverse immune reaction against cow milk protein." [HPO:sdoelken] |
Show
|
| HP:0100694 | Tibial torsion | "Tibial torsion is inward twisting (`medial roation`)(PATO:0002155) of the `tibia` (FMA:24476)." [HPO:sdoelken] |
Show
|
