| 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: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:0000076 | Vesicoureteral reflux | "Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes." [HPO:curators] |
Show
|
| HP:0000105 | Enlarged kidneys | |
Show
|
| HP:0000121 | Nephrocalcinosis | |
Show
|
| HP:0000126 | Hydronephrosis | |
Show
|
| HP:0000135 | Hypogonadism | "Reduced function of the gonads (testes in males or ovaries in females)." [HPO:curators] |
Show
|
| HP:0000150 | Gonadoblastoma | |
Show
|
| HP:0000158 | Macroglossia | "Increased length and width of the tongue." [pmid:19125428] |
Show
|
| HP:0000239 | Large fontanelles | "In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms." [HPO:curators] |
Show
|
| HP:0000256 | Macrocephaly | "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson] |
Show
|
| HP:0000269 | Prominent occiput | |
Show
|
| HP:0000280 | Coarse facial features | |
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:0000520 | Proptosis | |
Show
|
| HP:0000787 | Kidney stones | |
Show
|
| HP:0000803 | Renal cortical cysts | |
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:0001052 | Nevus flammeus | "A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin." [HPO:sdoelken] |
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: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: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:0001511 | Intrauterine growth retardation | |
Show
|
| HP:0001528 | Hemihypertrophy | |
Show
|
| HP:0001539 | Omphalocele | |
Show
|
| HP:0001540 | Diastasis recti | |
Show
|
| HP:0001548 | Overgrowth | |
Show
|
| HP:0001638 | Cardiomyopathy | |
Show
|
| HP:0001640 | Cardiomegaly | |
Show
|
| HP:0001998 | Neonatal hypoglycemia | |
Show
|
| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
Show
|
| HP:0002150 | Hypercalciuria | |
Show
|
| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
Show
|
| HP:0002656 | Epiphyseal dysplasia | |
Show
|
| HP:0002667 | Nephroblastoma (Wilms tumor) | "A kind of renal tumor primarily affecting children. It is characterized by an abnormal proliferation of the metanephric blastema cells, which are believed to be primitive embryologic cells of the kidney. Clinically, nephroblatoma usually presents as an abdominal mass, and in some cases with abdominal pain, hypertension, hematuria, and fever." [HPO:curators] |
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:0002884 | Hepatoblastoma | |
Show
|
| HP:0002983 | Micromelia | |
Show
|
| HP:0003072 | Hypercalcemia | "A level of blood calcium that is higher than normal." [HPO:curators] |
Show
|
| HP:0003196 | Nasal hypoplasia | "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] |
Show
|
| HP:0003247 | Overgrowth of external genitalia | |
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:0005280 | Depressed nasal root and bridge | |
Show
|
| HP:0005487 | Prominent metopic suture | "A prominent persistent frontal suture (metopic suture)." [HPO:curators] |
Show
|
| HP:0005616 | Accelerated skeletal maturation | "An abnormally increased rate of skeletal maturation. Accelerated 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:0006277 | Pancreatic hyperplasia | |
Show
|
| HP:0006744 | Adrenocortical carcinoma | |
Show
|
| HP:0008186 | Adrenocortical cytomegaly | |
Show
|
| HP:0008523 | Pits in posterior aspect of ear helices | |
Show
|
| HP:0008734 | Decreased testicular size | |
Show
|
| HP:0008897 | Growth retardation, progressive | |
Show
|
| HP:0011220 | Prominent forehead | "Forward prominence of the entire forehead, due to protrusion of the frontal bone." [pmid:19125436] |
Show
|
| HP:0011800 | Midface retrusion | "Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle." [DDD:jclayton-smith] |
Show
|
| HP:0100255 | Metaphyseal dysplasia | "The presence of dysplastic regions in metaphyseal bones." [HPO:sdoelken] |
Show
|
