| 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:0000023 | Inguinal hernia | |
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| HP:0000212 | Gingival hyperplasia | |
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| HP:0000222 | Gingival hyperkeratosis | |
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| HP:0000225 | Gingival bleeding | |
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| HP:0000232 | Everted lower lip | |
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| HP:0000260 | Wide anterior fontanel | "Enlargement of the anterior fontanelle with respect to age-dependent norms." [HPO:curators] |
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| HP:0000278 | Retrognathia | |
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| 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] |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000494 | Downward slanting palpebral fissures | |
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| HP:0000545 | Myopia | |
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| HP:0000592 | Blue sclerae | |
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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: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] |
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| 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] |
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| HP:0000963 | Thin skin | |
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| HP:0000974 | Hyperextensible skin | |
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| HP:0000978 | Ecchymoses | |
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| HP:0001001 | Abnormality of subcutaneous fat tissue | |
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| HP:0001007 | Hirsutism | "Abnormally increased hair growth." [HPO:curators] |
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| HP:0001027 | Soft, doughy skin | |
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| HP:0001030 | Fragile skin | |
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| 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] |
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| HP:0001270 | Motor retardation | |
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| HP:0001385 | Hip dysplasia | |
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| 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] |
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| HP:0001388 | Joint laxity | |
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| 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] |
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| HP:0001537 | Umbilical hernia | "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [HPO:curators] |
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| HP:0001582 | Loose, redundant skin | |
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| HP:0001622 | Premature birth | |
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| HP:0001788 | Premature rupture of membranes | "Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor." [HPO:probinson] |
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| HP:0001831 | Brachydactyly (feet) | |
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| HP:0002020 | Gastroesophageal reflux | |
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| HP:0002036 | Hiatus hernia | "A tendency for the upper part of the stomach to herniate into the thorax because of a weakness of the esophageal hiatus, which is the hole in the diaphragm through which the esophagus passes. Hiatus hernia can be asymptomatic or can lead to acid reflux symptoms (heartburn)." [HPO:curators] |
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| HP:0002300 | Mutism | |
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| HP:0002357 | Dysphasia | |
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| HP:0002381 | Aphasia | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| 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] |
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| HP:0002748 | Rickets | |
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| HP:0002749 | Osteomalacia | "Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets." [HPO:curators] |
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| HP:0002812 | Coxa vara | |
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| HP:0002827 | Dislocated hips | |
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| HP:0002983 | Micromelia | |
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| HP:0003010 | Prolonged bleeding time | |
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| HP:0003510 | Short stature, severe | "A severe degree of short stature." [HPO:curators] |
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| 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] |
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| HP:0004876 | spontaneous neonatal pneumothorax | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0005332 | Recurrent mandibular subluxations | "Recurrent partial dislocations of the mandible." [HPO:curators] |
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| HP:0005692 | Joint hyperflexibility | |
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| HP:0005743 | Abnormal femoral head with degenerative changes | |
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| HP:0006344 | Deciduous molars show abnormal morphology | |
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| HP:0007392 | Excessive wrinkled skin | |
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| HP:0009803 | Hypoplastic/small phalanges of the hand | |
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| HP:0009826 | Hypoplasia involving bones of the extremities | |
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| HP:0010529 | Echolalia | "The tendency to repeat vocalizations made by another person." [HPO:curators] |
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| HP:0010749 | Blepharochalasis | "Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads." [PMID:3207663] |
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| HP:0012471 | Thick vermilion border | "Increased width of the "skin of vermilion border region of upper lip" (FMA:312645)." [HPO:probinson] |
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| HP:0100541 | Femoral hernia | "A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal." [HPO:sdoelken] |
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| HP:0100633 | Esophagitis | |
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| HP:0100699 | Scarring | |
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| HP:0200094 | Frontal open bite | |
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