| HPO |
HP:0001944 |
Dehydration |
— |
— |
HP:0011032 |
| HPO |
HP:0011039 |
Abnormality of the helix |
"An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe." [HPO:probinson] |
— |
HP:0000377 |
| HPO |
HP:0000389 |
Chronic otitis media |
"Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear." [HPO:probinson] |
— |
HP:0000388 |
| HPO |
HP:0100543 |
Cognitive impairment |
"Abnormal cognition with deficits in thinking, reasoning, or remembering." [HPO:sdoelken] |
An individual with cognitive impairment may have trouble remembering, learning new things, concentrating, or making decisions. |
HP:0011446 |
| HPO |
HP:0000365 |
Hearing impairment |
"A decreased magnitude of the sensory perception of sound." [HPO:probinson] |
Hearing loss can be categorized by which part of the auditory system is damaged, as conductive hearing loss, sensorineural hearing loss, and mixed hearing loss. Another axis of classification uses the degree of hearing impairment. The degree of hearing loss is computed by using a three frequency average taken at 500 Hz, 1,000 Hz and 2,000 Hz. The average of these three frequencies is called the Pure Tone Average (PTA). 0-20 dB is considered normal, 21-40 dB mild loss, 41-60 dB moderate loss, 61-70 dB moderately severe loss,71-90 dB severe loss, and greater than 90 dB profound loss. Note that the word deafness is occasionally used to describe partial hearing loss. The World Health Organization uses the word deafness to refer to complete loss of the ability to hear, and hearing impairment to refer to any degree of reduced hearing. |
HP:0000364 |
| HPO |
HP:0008064 |
Ichthyosis |
"An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization." [HPO:probinson] |
The ichthyoses are a group of skin diseases characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed. The abnormality in ichthyosis lies in am imbalance in the normal lifecycle of skin in which growth is matched with dying and shedding of skin cells. In ichthyosis, skin cells reproduce at a rate faster than dead skin cells can be shed or reproduce at a normal rate with a reduction in the rate of shedding. Either abnormality leads to a build up of dry and scaly skin. Note that this term refers to the morphological abnormality of the skin and not the disorder. |
HP:0011368 |
| HPO |
HP:0004322 |
Short stature |
"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] |
— |
HP:0000002, HP:0001510 |
| HPO |
HP:0000982 |
Palmoplantar keratoderma |
"Abnormal thickening of the skin of the palms of the hands and the soles of the feet." [HPO:probinson] |
— |
HP:0000972 |
| HPO |
HP:0000966 |
Hypohidrosis |
"Abnormally diminished capacity to sweat." [HPO:probinson] |
— |
HP:0007550 |
| HPO |
HP:0000491 |
Keratitis |
"Inflammation of the cornea." [HPO:curators] |
— |
HP:0011495, HP:0100533 |
| HPO |
HP:0000989 |
Pruritus |
"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:probinson] |
— |
HP:0011122 |
| HPO |
HP:0000656 |
Ectropion |
"An outward turning (eversion) or rotation of the eyelid margin." [PMID:19125427] |
Ectropion is frequently associated wit overexposure of the palpebral and scleral conjunctiva and cornea. It usually involves the lower eyelid. |
HP:0000492 |
| HPO |
HP:0001508 |
Failure to thrive |
"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm." [HPO:probinson] |
Although there is no clear consensus on the exact definition of FTT, it is usually diagnoses in a child growing below the 3rd percentile or in a child whose decreased growth has cross two major growth percentiles (for example, from above the 75th percentile to below the 25th percentile). |
HP:0004325 |
| HPO |
HP:0200020 |
Corneal erosion |
"An erosion or abrasion of the cornea's outermost layer of epithelial cells." [HPO:sdoelken] |
— |
HP:0011495 |
| HPO |
HP:0001597 |
Abnormality of the nail |
"Abnormality of the nail." [HPO:probinson] |
Abnormality of the fingernails and/or toenails. |
HP:0011138 |
| HPO |
HP:0001596 |
Alopecia |
"A noncongenital process of hair loss, which may progress to partial or complete baldness." [PMID:14676077] |
— |
HP:0011362 |
| HPO |
HP:0001019 |
Erythroderma |
"An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever." [HPO:probinson] |
— |
HP:0011123 |
| HPO |
HP:0001217 |
Clubbing |
"Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails." [HPO:sdoelken, PMID:19125433] |
Non-edematous swelling/broadening of the soft tissue of the fingertips in all dimensions (distal phalanges of the fingers). |
HP:0011297 |
| HPO |
HP:0001820 |
Leukonychia |
"White discoloration of the nails." [HPO:probinson] |
— |
HP:0100643 |
| HPO |
HP:0001438 |
Abnormal abdomen morphology |
"A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax." [HPO:probinson] |
— |
HP:0025031 |
| HPO |
HP:0000656 |
Ectropion |
"An outward turning (eversion) or rotation of the eyelid margin." [PMID:19125427] |
Ectropion is frequently associated wit overexposure of the palpebral and scleral conjunctiva and cornea. It usually involves the lower eyelid. |
HP:0000492 |
| HPO |
HP:0000982 |
Palmoplantar keratoderma |
"Abnormal thickening of the skin of the palms of the hands and the soles of the feet." [HPO:probinson] |
— |
HP:0000972 |
| HPO |
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:probinson] |
— |
HP:0000005 |
| HPO |
HP:0000707 |
Abnormality of the nervous system |
"An abnormality of the nervous system." [HPO:probinson] |
The nervous system comprises the neuraxis (brain, spinal cord, and ventricles), the autonomic nervous system, the enteric nervous system, and the peripheral nervous system. |
HP:0000118 |
| HPO |
HP:0007431 |
Congenital ichthyosiform erythroderma |
"An ichthyosiform abnormality of the skin with congenital onset." [HPO:probinson] |
— |
HP:0008064 |