| 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:0000054 | Micropenis | |
Show
|
| HP:0000238 | Hydrocephalus | |
Show
|
| HP:0000256 | Macrocephaly | "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson] |
Show
|
| HP:0000270 | Delayed closure of fontanelles | "Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age." [HPO:curators] |
Show
|
| HP:0000316 | Hypertelorism | |
Show
|
| HP:0000519 | Congenital cataract | "A congenital `cataract` (HP:0000518)." [HPO:probinson] |
Show
|
| HP:0000526 | Aniridia | "Congenital absence of the iris." [HPO:curators] |
Show
|
| HP:0000540 | Hypermetropia | |
Show
|
| HP:0000568 | Microphthalmos | "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators] |
Show
|
| HP:0000670 | Carious teeth | |
Show
|
| HP:0000829 | Hypoparathyroidism | |
Show
|
| HP:0000935 | Thickened cortex of long bones | "Abnormal thickening of the cortex of long bones." [HPO:curators] |
Show
|
| HP:0001085 | Papilledema | "Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure." [HPO:curators] |
Show
|
| HP:0001156 | Brachydactyly | |
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:0001476 | Delayed closure of the anterior fontanelle | "A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life." [HPO:curators] |
Show
|
| HP:0001508 | Failure to thrive | |
Show
|
| HP:0001511 | Intrauterine growth retardation | |
Show
|
| HP:0001518 | Low birth weight | |
Show
|
| HP:0001541 | Ascites | |
Show
|
| HP:0001620 | High pitched voice | |
Show
|
| HP:0001746 | Asplenia | "Absence (aplasia) of the spleen." [HPO:curators] |
Show
|
| HP:0001903 | Anemia | |
Show
|
| HP:0002135 | Basal ganglia calcification | "Calcification affecting one or more structures of the basal ganglia." [HPO:curators] |
Show
|
| HP:0002199 | Seizures due to hypocalcemia | |
Show
|
| HP:0002750 | Delayed skeletal maturation | "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] |
Show
|
| HP:0002901 | Hypocalcemia | "A level of blood calcium that is lower than normal." [HPO:curators] |
Show
|
| HP:0002905 | Hyperphosphatemia | |
Show
|
| HP:0003015 | Metaphyseal flaring | "The presence of splayed (i.e.,flared) metaphyseal segments of the long bones." [HPO:curators] |
Show
|
| HP:0003100 | Thin long bones | |
Show
|
| HP:0003472 | Hypocalcemic tetany | |
Show
|
| HP:0003510 | Short stature, severe | "A severe degree of short stature." [HPO:curators] |
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:0004331 | Decreased skull ossification | "A reduction in the magnitude or amount of ossification of the skull." [HPO:curators] |
Show
|
| HP:0005450 | Calvarial osteosclerosis | "An increase in bone density affecting the calvaria (roof of the skull)." [HPO:curators] |
Show
|
| HP:0005490 | Macrocephaly, postnatal | "The postnatal development of an abnormally large skull (macrocephaly)." [HPO:curators] |
Show
|
| HP:0005791 | Cortical thickening of long bone diaphyses | "Abnormal thickening of the cortex of the diaphyseal region of long bones." [HPO:curators] |
Show
|
| HP:0006270 | Hypoplastic spleen | "Underdevelopment of the spleen." [HPO:curators] |
Show
|
| HP:0006335 | Delayed loss of deciduous teeth | |
Show
|
| HP:0006470 | Thin diaphyses of long bones | |
Show
|
| HP:0007633 | Bilateral microphthalmos | "A developmental anomaly characterized by abnormal smallness of both eyes." [HPO:curators] |
Show
|
| HP:0007862 | Retinal calcification | |
Show
|
| HP:0008198 | Congenital hypoparathyroidism | |
Show
|
| HP:0008285 | Transient hypophosphatemia | |
Show
|
| HP:0008734 | Decreased testicular size | |
Show
|
| HP:0008897 | Growth retardation, progressive | |
Show
|
| HP:0010296 | Ankyloglossia | "Short or anteriorly attached lingual frenulum associated with limited mobility of the tongue." [pmid:19125428] |
Show
|
| HP:0011001 | Increased bone mineral density | "An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often refered to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones." [HPO:curators] |
Show
|
| HP:0011220 | Prominent forehead | "Forward prominence of the entire forehead, due to protrusion of the frontal bone." [pmid:19125436] |
Show
|
| HP:0030346 | Abnormal circulating follicle-stimulating hormone level | "An anomaly of the circulating level of follicle-stimulating hormone (FSH)." [HPO:probinson] |
Show
|
| HP:0100253 | Abnormality of the medullary cavity of the long bones | "An abnormality of the medullary cavity (medulla, innermost part), which is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored." [HPO:sdoelken] |
Show
|
| HP:0100254 | Stenosis of the medullary cavity of the long bones | |
Show
|
