| 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:0000078 | Abnormality of the genital tract | |
Show
|
| HP:0000079 | Abnormality of the urinary tract | |
Show
|
| HP:0000158 | Macroglossia | "Increased length and width of the tongue." [pmid:19125428] |
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:0000179 | Prominent lower lip | "Increased thickness of the lower lip, leading to a prominent appearance of the lower lip." [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:0000286 | Epicanthus | "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators] |
Show
|
| HP:0000405 | Hearing loss, conductive | |
Show
|
| HP:0000421 | Epistaxis | |
Show
|
| HP:0000457 | Flat nose | |
Show
|
| HP:0000474 | Excess nuchal skin | |
Show
|
| HP:0000495 | Recurrent corneal erosions | "The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations." [HPO:curators] |
Show
|
| HP:0000498 | Blepharitis | "Inflammation of the eyelids." [HPO:curators] |
Show
|
| HP:0000582 | Upslanting palpebral fissures | |
Show
|
| HP:0000656 | Ectropion | "An abnormal turning outward of the lower eyelid." [HPO:sdoelken] |
Show
|
| HP:0000821 | Hypothyroidism | |
Show
|
| HP:0000823 | Delayed puberty | |
Show
|
| HP:0000938 | Osteopenia | "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:curators] |
Show
|
| HP:0000954 | Transverse palmar creases | "The presence of a single palmar crease (instead of the two palmar creases that are typically present)." [HPO:curators] |
Show
|
| HP:0000967 | Petechiae | |
Show
|
| HP:0000978 | Ecchymoses | |
Show
|
| HP:0000980 | Pallor | |
Show
|
| HP:0000987 | Scarring | |
Show
|
| HP:0000992 | Photosensitivity | "An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin." [HPO:curators] |
Show
|
| HP:0000998 | Hypertrichosis | "Hypertrichosis is increased hair growth that is abnormal in quantity or location." [HPO:curators] |
Show
|
| HP:0001000 | Abnormality of skin pigmentation | |
Show
|
| HP:0001007 | Hirsutism | "Abnormally increased hair growth." [HPO:curators] |
Show
|
| HP:0001072 | Thickened skin | |
Show
|
| HP:0001088 | Brushfield spots | |
Show
|
| HP:0001096 | Keratoconjunctivitis | "Inflammation of the cornea and conjunctiva." [HPO:curators] |
Show
|
| HP:0001155 | Abnormality of the hand | "An abnormality affecting one or both hands." [HPO:curators] |
Show
|
| HP:0001169 | Broad hands | |
Show
|
| HP:0001249 | Mental retardation | |
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:0001388 | Joint laxity | |
Show
|
| HP:0001419 | X-linked recessive inheritance | "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators] |
Show
|
| HP:0001581 | Recurrent skin infections | "Infections of the skin that happen multiple times." [HPO:curators] |
Show
|
| HP:0001674 | Complete atrioventricular canal | "A congenital malformation characterized by atrial septal defect, ventricular septal defect), and abnormalities of the tricuspid and mitral valves." [HPO:curators] |
Show
|
| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
Show
|
| HP:0001760 | Abnormality of the feet | "An abnormality of the feet (foot deformity) is a disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, Congenital vertical talus (rocker bottom foot) & etc." [HPO:curators] |
Show
|
| HP:0001790 | Nonimmune hydrops fetalis | |
Show
|
| HP:0001873 | Thrombocytopenia | |
Show
|
| HP:0001875 | Neutropenia | |
Show
|
| HP:0001878 | Hemolytic anemia | |
Show
|
| HP:0001892 | Bleeding diathesis | "An abnormal susceptibility to bleeding because of a defect in coagulation." [HPO:curators] |
Show
|
| HP:0001900 | Increased hemoglobin | |
Show
|
| HP:0001903 | Anemia | |
Show
|
| HP:0001905 | Congenital thrombocytopenia | |
Show
|
| HP:0001923 | Reticulocytosis | |
Show
|
| HP:0001927 | Red cell acanthocytosis | "Acanthocytosis refers to an abnormal morphiology of red-blood cells characterized by the presence of spikes on the cell surface. The cells have an irregular shaped resembling many-pointed stars." [HPO:curators] |
Show
|
| HP:0001931 | Hypochromic anemia | |
Show
|
| HP:0001934 | Persistent bleeding after trauma | |
Show
|
| HP:0001972 | Macrocytic anemia | |
Show
|
| HP:0002023 | Anal atresia | "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators] |
Show
|
| HP:0002076 | Migraine | |
Show
|
| HP:0002251 | Congenital megacolon | "An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon." [HPO:curators] |
Show
|
| HP:0002488 | Acute leukemia | |
Show
|
| HP:0002511 | Alzheimer disease | |
Show
|
| HP:0002721 | Immunodeficiency | |
Show
|
| HP:0002757 | Recurrent fractures | "The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators] |
Show
|
| HP:0002866 | Hypoplastic iliac wings | |
Show
|
| HP:0003010 | Prolonged bleeding time | |
Show
|
| HP:0003182 | Shallow acetabular fossae | |
Show
|
| HP:0003196 | Nasal hypoplasia | "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] |
Show
|
| HP:0003467 | Atlantoaxial instability | |
Show
|
| HP:0003540 | Abnormal platelet aggregation | |
Show
|
| HP:0003593 | Early onset | |
Show
|
| HP:0003745 | Sporadic | |
Show
|
| HP:0003828 | Variable expressivity | |
Show
|
| HP:0004220 | Hypoplastic/small middle phalanx of the 5th finger | "Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger." [HPO:curators] |
Show
|
| HP:0004279 | Hypoplastic hand | |
Show
|
| HP:0004312 | Abnormality of reticulocytes | |
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:0004445 | Elliptocytosis | |
Show
|
| HP:0004447 | Poikilocytosis | |
Show
|
| HP:0005547 | Myeloproliferative disorder | |
Show
|
| HP:0006733 | Acute megakaryocytic leukemia | |
Show
|
| HP:0008066 | Abnormal blistering of the skin | |
Show
|
| HP:0008551 | Underdeveloped ears | |
Show
|
| HP:0010472 | Abnormality of the heme biosynthetic pathway | "An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes." [HPO:curators] |
Show
|
| HP:0010808 | Protruding tongue | "Tongue extending beyond the alveolar ridges or teeth at rest." [pmid:19125428] |
Show
|
| HP:0010972 | Anemia of inadequate production | "A kind of `anemia` (HP:0001903) characterized by inadequate production of erythrocytes." [HPO:probinson] |
Show
|
| HP:0011273 | Anisocytosis | "Abnormally increased variability in the size of erythrocytes." [HPO:probinson] |
Show
|
| HP:0011675 | Arrhythmia | "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." [DDD:dbrown, pmid:19063792] |
Show
|
| HP:0011869 | Abnormal platelet function | "Any anomaly in the function of thrombocytes." [HPO:probinson] |
Show
|
| HP:0011875 | Abnormal platelet morphology | "An anomaly in platelet form, ultrastructure, or intracellular organelles." [DDD:kfreson] |
Show
|
| HP:0011902 | Abnormal hemoglobin | "Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes." [HPO:probinson] |
Show
|
| HP:0012086 | Abnormal urinary color | "An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color." [HPO:probinson] |
Show
|
| HP:0012135 | Abnormality of cells of the granulocytic lineage | "An anomaly of cells involved in the formation of a granulocytes, that is, of the `granulocytopoietic cell` (CL:0002191)." [DDD:akelly] |
Show
|
| HP:0012143 | Abnormality of cells of the megakaryocyte lineage | "Anomaly of `megakaryocytes` (CL:0000556)." [HPO:probinson] |
Show
|
| HP:0012145 | Abnormality of multiple cell lineages in the bone marrow | |
Show
|
| HP:0012368 | Flat face | "Absence of concavity or convexity of the face when viewed in profile." [pmid:19125436] |
Show
|
| HP:0012378 | Fatigue | "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] |
Show
|
| HP:0040185 | Macrothrombocytopenia | |
Show
|
| HP:0045040 | Abnormal lactate dehydrogenase activity | |
Show
|
| HP:0100867 | Duodenal stenosis | "The narrowing or partial blockage of a portion of the duodenum." [HPO:sdoelken] |
Show
|
