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] |
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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] |
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HP:0000008 | Abnormality of female internal genitalia | |
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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] |
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HP:0000039 | Epispadias | "Displacement of the urethral opening on the dorsal (superior) surface of the penis." [HPO:curators] |
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HP:0000047 | Hypospadias | "Displacement of the urethral opening on the ventral (inferior) surface of the penis." [HPO:curators] |
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HP:0000072 | Hydroureter | "The distention of the ureter with urine." [HPO:curators] |
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HP:0000190 | Frenular abnormality | "An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth." [HPO:probinson] |
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HP:0000204 | Cleft lip | "A gap in the `upper lip` (FMA:59817). This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development." [HPO:probinson] |
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HP:0000233 | Thin vermillion border | |
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HP:0000395 | Prominent antihelix | "Abnormally prominent antihelix." [HPO:curators] |
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HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
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HP:0000601 | Hypotelorism | |
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HP:0000668 | Hypodontia | "Hypodontia describes a situation when there are fewer than the normal number of teeth, whereby 6 teeth or fewer teeth are missing (oligodontia refers to the condition of missing more than 6 teeth and the congenital absence of all teeth is called anodontia)." [HPO:curators] |
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HP:0000684 | Delayed dentition | "Delayed eruption of teeth." [HPO:curators] |
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HP:0000691 | Microdontia | |
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HP:0000695 | Neonatal teeth | |
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HP:0000698 | Conical teeth | |
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HP:0000768 | Pectus carinatum | "A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum." [HPO:curators] |
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HP:0000773 | Short ribs | |
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HP:0000774 | Narrow chest | |
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HP:0000888 | Short, horizontal ribs | |
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HP:0000968 | Ectodermal dysplasia | |
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HP:0001156 | Brachydactyly | |
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HP:0001161 | Polydactyly (hands) | |
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HP:0001162 | Postaxial polydactyly (hands) | "Supernumerary digits located at the ulnar side of the hand." [HPO:curators] |
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HP:0001231 | Abnormality of the fingernails | "An abnormality of the `fingernails` (FMA:54327)." [HPO:probinson] |
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HP:0001241 | Capitate-hamate fusion | |
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HP:0001249 | Mental retardation | |
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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] |
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HP:0001508 | Failure to thrive | |
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HP:0001511 | Intrauterine growth retardation | |
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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] |
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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] |
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HP:0001654 | Abnormality of the heart valves | "An abnormality of a `Cardiac valve` (FMA:7110)." [HPO:probinson] |
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HP:0001696 | Situs inversus | "A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs." [HPO:curators] |
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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] |
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HP:0001792 | Nail hypoplasia | "Underdeveloped `fingernails` (FMA:54327) or `toenails` (FMA:54328)." [HPO:probinson] |
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HP:0001800 | Hypoplastic toenails | "Underdeveloped toenails." [HPO:curators] |
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HP:0001829 | Polydactyly (feet) | |
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HP:0001830 | Postaxial polydactyly (feet) | "Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit." [HPO:curators] |
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HP:0002006 | Facial cleft | |
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HP:0002097 | Emphysema | |
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HP:0002164 | Nail dysplasia | |
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HP:0002488 | Acute leukemia | |
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HP:0002644 | Abnormality of the pelvis | "An abnormality of the bony pelvis (pelvic girdle); which is a ring of bones connecting the vertebral column to the femurs." [HPO:curators] |
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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] |
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HP:0002857 | Genu valgum | |
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HP:0002866 | Hypoplastic iliac wings | |
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HP:0002967 | Cubitus valgus | |
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HP:0002983 | Micromelia | |
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HP:0003026 | Short long bones | |
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HP:0003502 | Mild short stature | "A mild degree of short stature." [HPO:curators] |
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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] |
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HP:0004279 | Hypoplastic hand | |
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HP:0005048 | fusion of carpal bones, especially capitate and hamate | |
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HP:0005561 | Generalized abnormality of the bone marrow | |
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HP:0006035 | Cone-shaped epiphyses of phalanges 2 to 5 | |
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HP:0006288 | Premature eruption of teeth | |
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HP:0006315 | Single median maxillary central incisor | "The presence of a single, centrally located maxillary `Incisor tooth` (FMA:12823) instead of the normal complement of a left and a right maxillary incisor tooth." [HPO:curators] |
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HP:0006477 | Abnormality of the alveolar ridges | "Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth." [HPO:curators] |
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HP:0006695 | Tricuspid and mitral valves are replaced by a single inlet valve | |
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HP:0006703 | Aplasia/Hypoplasia of the lungs | |
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HP:0008404 | Nail dystrophy, variable | |
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HP:0008678 | Renal hypoplasia/aplasia | |
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HP:0008921 | Neonatal short-limbed dwarfism | |
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HP:0009738 | Abnormal antihelix | "An abnormal form of the antihelix, which is the curved prominence of cartilage, parallel with and in front of the helix, and which divides into the crura antihelicis, between which is a triangular depression, the fossa triangularis." [HPO:curators] |
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HP:0009882 | Hypoplasia of the distal phalanges of the hand | |
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HP:0010306 | Short thorax | "Reduced inferior to superior extent of the thorax." [HPO:curators] |
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HP:0010454 | Acetabular spurs | "The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum." [HPO:curators] |
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HP:0010557 | Overlapping fingers | "Overlapping of the fingers occuring as the result of a deviation of the fingers from their normal position." [HPO:curators] |
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HP:0011065 | Conical incisor | "An abnormal `conical` (PATO:0002021) morphology of the `incisor tooth` (FMA:12823)." [HPO:ibailleulforestier] |
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HP:0011362 | Abnormal hair quantity | "An abnormal amount of hair." [DDD:cmoss] |
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HP:0011565 | Common atrium | "Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections." [DDD:dbrown, HPO:probinson] |
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HP:0011830 | Abnormality of oral mucosa | "Abnormality of the `oral mucosa` (FMA:59660)." [HPO:probinson] |
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HP:0100797 | Toenail dysplasia | "An abnormality of the development of the toenails." [HPO:probinson] |
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HP:0200055 | Small hands | |
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