| HPO |
HP:0007431 |
Congenital ichthyosiform erythroderma |
"An ichthyosiform abnormality of the skin with congenital onset." [HPO:probinson] |
— |
HP:0008064 |
| HPO |
HP:0001622 |
Premature birth |
"The birth of a baby of less than 37 weeks of gestational age." [HPO:probinson] |
— |
HP:0001197 |
| 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:0000520 |
Proptosis |
"An eye that is protruding anterior to the plane of the face to a greater extent than is typical." [HPO:sdoelken, PMID:19125427] |
Some sources define "exophthalmos" as a protrusion of the globe greater than 18 mm and "proptosis" as a protusion equal to or less than 18 mm. Others define "exophthalmos" as protusion secondary to endocrine dysfunction and "proptosis" as any non-endocrine-mediated protusion (Source: Wikipedia). This finding should be distinguished frm underdevelopment of the supraorbital ridge or maxilla/zygoma. In proptosis, the globe is anteriorly protuberant to the overall plane of the face. |
HP:0100886 |
| HPO |
HP:0002063 |
Rigidity |
"Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity." [HPO:probinson] |
Rigidity is often a manifestation of basal ganglia diseases. |
HP:0001276 |
| HPO |
HP:0000232 |
Everted lower lip vermilion |
"An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view." [PMID:19125428] |
In frontal view, with the face relaxed, the apparent height of the lower lip vermilion is excessive and the lower incisors may be visible. On profile view, the vermilion is more convex than usual. An everted lower lip may be viewed as pouting, but this designation is a functional term. |
HP:0000178, HP:0012472 |
| HPO |
HP:0009381 |
Short finger |
"Abnormally short finger associated with developmental hypoplasia." [HPO:probinson] |
— |
HP:0005922, HP:0006265, HP:0011927 |
| 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:0000232 |
Everted lower lip vermilion |
"An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view." [PMID:19125428] |
In frontal view, with the face relaxed, the apparent height of the lower lip vermilion is excessive and the lower incisors may be visible. On profile view, the vermilion is more convex than usual. An everted lower lip may be viewed as pouting, but this designation is a functional term. |
HP:0000178, HP:0012472 |
| 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:0000958 |
Dry skin |
"Skin characterized by the lack of natural or normal moisture." [HPO:probinson] |
— |
HP:0011121 |
| HPO |
HP:0100840 |
Aplasia/Hypoplasia of the eyebrow |
"Absence or underdevelopment of the eyebrow." [HPO:probinson] |
— |
HP:0000534 |
| HPO |
HP:0001597 |
Abnormality of the nail |
"Abnormality of the nail." [HPO:probinson] |
Abnormality of the fingernails and/or toenails. |
HP:0011138 |
| HPO |
HP:0000083 |
Renal insufficiency |
"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism." [HPO:probinson] |
— |
HP:0012211 |
| 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:0002205 |
Recurrent respiratory infections |
"An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections." [HPO:probinson] |
— |
HP:0002719, HP:0011947 |
| HPO |
HP:0100806 |
Sepsis |
"Systemic inflammatory response to infection." [HPO:probinson] |
— |
HP:0010978 |
| HPO |
HP:0000164 |
Abnormality of the dentition |
"Any abnormality of the teeth." [HPO:ibailleulforestier] |
Any abnormality of the primary (deciduous) or permanent teeth. |
HP:0000163 |
| 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:0100679 |
Lack of skin elasticity |
— |
— |
HP:0010647 |
| HPO |
HP:0100758 |
Gangrene |
"A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis)." [ISBN:9780781770873] |
This may occur after an injury or infection, or in people suffering from any chronic health problem affecting blood circulation. The prime cause of gangrene is reduced blood supply to the affected tissues, which results in cell death. Diabetes and long-term smoking increase the risk of suffering from gangrene. There are different types of gangrene with different symptoms, such as dry gangrene, wet gangrene, gas gangrene, internal gangrene and necrotising fasciitis. Treatment options include debridement (or, in severe cases, amputation) of the affected body parts, antibiotics, vascular surgery, maggot therapy or hyperbaric oxygen therapy. |
HP:0025142 |
| HPO |
HP:0008070 |
Sparse hair |
"Reduced density of hairs." [HPO:probinson, PMID:14676077] |
This term applies if the number of hair shafts per unit area is reduced. The term fine hair is used to describe hair with a reduced diameter. |
HP:0011362 |
| 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:0000962 |
Hyperkeratosis |
"Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum." [HPO:probinson] |
— |
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 |