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:0000023 | Inguinal hernia | |
Show
|
HP:0000079 | Abnormality of the urinary tract | |
Show
|
HP:0000154 | Wide mouth | "Abnormally wide mouth." [HPO:curators] |
Show
|
HP:0000212 | Gingival hyperplasia | |
Show
|
HP:0000271 | Abnormality of the face | |
Show
|
HP:0000280 | Coarse facial features | |
Show
|
HP:0000303 | Mandibular prognathia | "Abnormal prominence of the chin related to an abnormally long mandible." [HPO:curators] |
Show
|
HP:0000316 | Hypertelorism | |
Show
|
HP:0000365 | Hearing loss | |
Show
|
HP:0000457 | Flat nose | |
Show
|
HP:0000470 | Short neck | |
Show
|
HP:0000648 | Optic atrophy | |
Show
|
HP:0000670 | Carious teeth | |
Show
|
HP:0000683 | Grayish enamel | |
Show
|
HP:0000687 | Widely spaced teeth | |
Show
|
HP:0000884 | Prominent sternum | |
Show
|
HP:0000900 | Thickened ribs | |
Show
|
HP:0000904 | Flaring of rib cage | "The presence of wide, concave anterior rib ends." [HPO:curators] |
Show
|
HP:0000926 | Platyspondyly | |
Show
|
HP:0000939 | Osteoporosis | "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators] |
Show
|
HP:0000998 | Hypertrichosis | "Hypertrichosis is increased hair growth that is abnormal in quantity or location." [HPO:curators] |
Show
|
HP:0001071 | Angiokeratoma corporis diffusum | |
Show
|
HP:0001223 | Pointed proximal second through fifth metacarpals | "All of the metacarpal bones of the hand have a pointed proximal appearance." [HPO:curators] |
Show
|
HP:0001249 | Mental retardation | |
Show
|
HP:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
Show
|
HP:0001256 | Mental retardation, mild | "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:curators] |
Show
|
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] |
Show
|
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] |
Show
|
HP:0001350 | Slurred speech | |
Show
|
HP:0001387 | Joint stiffness | "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time." [HPO:curators] |
Show
|
HP:0001388 | Joint laxity | |
Show
|
HP:0001392 | Abnormality of the liver | |
Show
|
HP:0001522 | Death in infancy | |
Show
|
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] |
Show
|
HP:0001639 | Hypertrophic cardiomyopathy | |
Show
|
HP:0001644 | Dilated cardiomyopathy | |
Show
|
HP:0001650 | Aortic stenosis | "The presence of a stenosis (narrowing) of the aortic valve." [HPO:curators] |
Show
|
HP:0001654 | Abnormality of the heart valves | "An abnormality of a `Cardiac valve` (FMA:7110)." [HPO:probinson] |
Show
|
HP:0001743 | Abnormality of the spleen | |
Show
|
HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
Show
|
HP:0001871 | Hematological abnormality | |
Show
|
HP:0001922 | Vacuolated lymphocytes | |
Show
|
HP:0001982 | Sea-blue histiocytes | |
Show
|
HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
Show
|
HP:0002059 | Cerebral atrophy | |
Show
|
HP:0002091 | Restrictive lung disease | |
Show
|
HP:0002119 | Ventriculomegaly | |
Show
|
HP:0002123 | Myoclonic seizures | "Myoclonic seizures are sudden, brief losses of consciousness and postural tone not associated with tonic muscular contractions. Myoclonic seizures may involve one body part or the entire body. In the latter case, the myoclonic seizure is accompanied by a violent fall but not by loss of consciousness." [HPO:curators] |
Show
|
HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
Show
|
HP:0002318 | Cervical myelopathy | |
Show
|
HP:0002506 | Diffuse cerebral atrophy | |
Show
|
HP:0002510 | Spastic tetraplegia | "Spastic paralysis affecting all four limbs." [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:0002788 | Recurrent upper respiratory tract infections | |
Show
|
HP:0002808 | Kyphosis | |
Show
|
HP:0002857 | Genu valgum | |
Show
|
HP:0002869 | Flared iliac wings | |
Show
|
HP:0003016 | Metaphyseal widening | "Abnormal widening of the metaphyseal regions of long bones." [HPO:curators] |
Show
|
HP:0003049 | Ulnar deviation of the wrist | |
Show
|
HP:0003053 | Epiphyseal deformities of tubular bones | |
Show
|
HP:0003202 | Amyotrophy | "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators] |
Show
|
HP:0003274 | Hypoplastic acetabulae | |
Show
|
HP:0003277 | Constricted iliac wings | |
Show
|
HP:0003300 | Ovoid vertebral bodies | |
Show
|
HP:0003307 | Hyperlordosis | |
Show
|
HP:0003308 | Cervical subluxation | "Partial dislocation of one or more intervertebral joints in the cervical spine." [HPO:curators] |
Show
|
HP:0003311 | Hypoplastic odontoid process | |
Show
|
HP:0003510 | Short stature, severe | "A severe degree of short stature." [HPO:curators] |
Show
|
HP:0003521 | Short stature, disproportionate (short trunk) | |
Show
|
HP:0003621 | Juvenile onset | |
Show
|
HP:0003651 | Presence of foam cells | |
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:0004568 | Beaking of vertebral bodies | |
Show
|
HP:0005292 | Intimal thickening in the coronary arteries | |
Show
|
HP:0007272 | Progressive psychomotor deterioration | |
Show
|
HP:0007281 | Developmental arrest | |
Show
|
HP:0007313 | Cerebral degeneration | |
Show
|
HP:0007759 | Corneal opacities, not impairing visual acuity | |
Show
|
HP:0008166 | Decreased beta-galactosidase activity | |
Show
|
HP:0008430 | Mild anterior beaking of lumbar vertebrae | |
Show
|
HP:0008479 | Hypoplastic vertebral bodies | |
Show
|
HP:0010729 | Cherry red spot of the macula | |
Show
|
HP:0012069 | Keratan sulfate excretion in urine | "An `increased concentration` (PATO:0001162) of `keratan sulfate` (CHEBI:60924) in the `urine` (FMA:12274)." [HPO:probinson] |
Show
|