| 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:0000070 | Ureterocele | |
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| HP:0000096 | Glomerulosclerosis | |
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| HP:0000110 | Renal dysplasia | |
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| HP:0000119 | Genitourinary abnormality | "The presence of any abnormality of the genitourinary system." [HPO:curators] |
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| HP:0000126 | Hydronephrosis | |
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| HP:0000430 | Hypoplastic nasal alae | "Thinned, deficient, or excessively arched `ala nasi` (FMA:59519)." [pmid:19152422] |
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| HP:0000490 | Deep set eyes | |
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| HP:0000491 | Keratitis | "Inflammation of the cornea." [HPO:curators] |
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| HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
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| HP:0000602 | Ophthalmoplegia | |
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| HP:0000656 | Ectropion | "An abnormal turning outward of the lower eyelid." [HPO:sdoelken] |
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| HP:0000670 | Carious teeth | |
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| HP:0000682 | Abnormality of dental enamel | "An abnormality of the dental enamel, which is the external layer of the teeth, being a highly mineralized substance consisting primarily of hydroxylapatite." [HPO:curators] |
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| HP:0000972 | Palmoplantar hyperkeratosis | "`Hyperkeratosis` (HP:0000962) affecting the palm of the hand and the sole of the foot." [HPO:probinson] |
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| HP:0000978 | Ecchymoses | |
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| HP:0001030 | Fragile skin | |
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| HP:0001056 | Milia | |
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| HP:0001057 | Aplasia cutis congenita | "A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs." [HPO:curators] |
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| HP:0001060 | Axillary pterygia | |
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| HP:0001075 | Atrophic scars | |
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| HP:0001270 | Motor retardation | |
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| HP:0001371 | Contractures | |
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| HP:0001376 | Decreased mobility of joints | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001522 | Death in infancy | |
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| HP:0001561 | Polyhydramnios | |
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| HP:0001596 | Alopecia | "Loss of hair from the head or body." [HPO:curators] |
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| HP:0001622 | Premature birth | |
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| HP:0001798 | Anonychia | "Total absence of nails." [HPO:curators] |
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| HP:0001804 | Hypoplastic fingernails | "Underdeveloped fingernails." [HPO:curators] |
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| HP:0001805 | Thickened nails | |
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| HP:0001812 | Hyperconvex fingernails | |
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| HP:0001903 | Anemia | |
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| HP:0001944 | Dehydration | |
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| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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| HP:0002032 | Esophageal atresia | "A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach." [HPO:curators] |
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| HP:0002041 | Intractable diarrhea | |
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| HP:0002164 | Nail dysplasia | |
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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:0002577 | Abnormality of the stomach | "An abnormality of the stomach, i.e., the hollow, muscular organ of the gastrointestinal tract between the esophagus and the small intestine." [HPO:curators] |
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| HP:0002643 | Neonatal respiratory distress | |
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| HP:0002804 | Arthrogryposis multiplex congenita | |
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| HP:0002938 | Lumbar hyperlordosis | |
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| HP:0003198 | Myopathy | |
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| HP:0003202 | Amyotrophy | "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators] |
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| HP:0003236 | Elevated serum creatine phosphokinase | |
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| HP:0003324 | Generalized muscle weakness | "Generalized weakness or decreased strength of the muscles." [HPO:curators] |
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| HP:0003341 | Skin cleavage in the lamina lucida | |
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| HP:0003391 | Gower sign | "A phenomen whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs." [HPO:probinson] |
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| HP:0003473 | Mild-moderate fatigable weakness of limb muscles | |
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| HP:0003551 | Difficulty climbing stairs | |
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| HP:0003560 | Muscular dystrophy | "The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the apoptosis of muscle cells." [HPO:curators] |
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| HP:0003577 | Onset at birth | |
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| HP:0003678 | Rapidly progressive | |
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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:0004334 | Dermal atrophy | "Partial or complete wasting (atrophy) of the skin." [HPO:curators] |
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| HP:0004399 | Congenital pyloric atresia | |
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| HP:0004552 | scarring alopecia of scalp | |
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| HP:0005984 | Elevated maternal serum alpha-fetoprotein | "An elevation of alpha-feto protein in the maternal serum." [HPO:curators] |
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| HP:0006297 | Hypoplastic dental enamel | |
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| HP:0007556 | Plantar hyperkeratosis | "`Hyperkeratosis` (HP:0000962) affecting the sole of the foot." [HPO:probinson] |
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| HP:0007585 | Skin fragility with non-scarring blistering | |
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| HP:0008066 | Abnormal blistering of the skin | |
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| HP:0008401 | Onychogryposis of toenails | |
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| HP:0008404 | Nail dystrophy, variable | |
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| HP:0008551 | Underdeveloped ears | |
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| HP:0009025 | Increased connective tissue | "The presence of an abnormally increased amount of connective tissue." [HPO:curators] |
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| HP:0010477 | Aplasia of the bladder | "Absence of the urinary bladder." [HPO:curators] |
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| HP:0010529 | Echolalia | "The tendency to repeat vocalizations made by another person." [HPO:curators] |
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| HP:0010547 | Muscle flaccidity | "A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation." [HPO:curators] |
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| HP:0011859 | Punctate keratitis | "A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium." [HPO:probinson] |
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| HP:0012227 | Urethral stricture | "Narrowing of the urethra associated with inflammation or scar tissue." [HPO:probinson] |
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| HP:0012246 | Oculomotor nerve palsy | "Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve)." [HPO:probinson] |
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| HP:0012378 | Fatigue | "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] |
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| HP:0100806 | Sepsis | |
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| HP:0200034 | skin papules | "A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point." [HPO:SKOEHLER] |
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| HP:0200037 | skin vesicle | "A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point." [HPO:SKOEHLER] |
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| HP:0200041 | skin erosion | "A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed." [HPO:SKOEHLER] |
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| HP:0200097 | Oral mucusa blisters | |
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