| HPO |
HP:0000946 |
Hypoplastic ilia |
"Underdevelopment of the ilium." [HPO:probinson] |
— |
HP:0002867 |
| HPO |
HP:0000947 |
Dumbbell-shaped long bone |
"An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses." [HPO:probinson] |
— |
HP:0003016 |
| HPO |
HP:0000951 |
Abnormality of the skin |
"An abnormality of the skin." [HPO:probinson] |
— |
HP:0001574 |
| HPO |
HP:0000952 |
Jaundice |
"Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:probinson] |
— |
HP:0001005, HP:0001396 |
| HPO |
HP:0000953 |
Hyperpigmentation of the skin |
"A darkening of the skin related to an increase in melanin production and deposition." [HPO:probinson] |
— |
HP:0001000 |
| HPO |
HP:0000954 |
Single transverse palmar crease |
"The distal and proximal transverse palmar creases are merged into a single transverse palmar crease." [HPO:probinson, PMID:19125433] |
The presence of a single palmar crease (instead of the two palmar creases that are typically present). |
HP:0010490 |
| HPO |
HP:0000956 |
Acanthosis nigricans |
"A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck." [DDD:cmoss, PMID:19061584] |
Acanthosis nigricans is seen in a variety of syndromes including those characterized by insulin resistance or fibroblast growth factor receptor (FGFR) mutations, and may also occur as an adverse effect of several medications that promote hyperinsulinemia. |
HP:0011368 |
| HPO |
HP:0000957 |
Cafe-au-lait spot |
"Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children." [HPO:probinson] |
The phrase cafe-au-lait comes from the French word for milk-coffee. A single cafe-au-lait spot can be an isolated finding in otherwise normal individuals. Multiple cafe-au-lait spots often indicate the presence of neurofibromatosis type 1 but may also be seen in other diseases including McCune-Albright syndrome, tuberous sclerosis, and Fanconi anemia. |
HP:0001034 |
| HPO |
HP:0000958 |
Dry skin |
"Skin characterized by the lack of natural or normal moisture." [HPO:probinson] |
— |
HP:0011121 |
| HPO |
HP:0000960 |
Sacral dimple |
"A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft." [HPO:probinson, PMID:28245993] |
— |
HP:0010767, HP:0010781 |
| HPO |
HP:0000961 |
Cyanosis |
"Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood." [PMID:25658213] |
— |
HP:0001005 |
| 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:0000963 |
Thin skin |
"Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin." [HPO:probinson] |
— |
HP:0008065 |
| HPO |
HP:0000964 |
Eczema |
"Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding." [HPO:probinson] |
Eczema has several forms including atopic dermatitis, contact dermatitis, dyshidrotic eczema, nummular eczema, seborrheic dermatitis, and stasis dermatitis. |
HP:0011123 |
| HPO |
HP:0000965 |
Cutis marmorata |
"A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather." [HPO:sdoelken] |
— |
HP:0011276 |
| HPO |
HP:0000966 |
Hypohidrosis |
"Abnormally diminished capacity to sweat." [HPO:probinson] |
— |
HP:0007550 |
| HPO |
HP:0000967 |
Petechiae |
"Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae." [HPO:probinson, PMID:29493956] |
— |
HP:0031365 |
| HPO |
HP:0000968 |
Ectodermal dysplasia |
"Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands." [HPO:probinson] |
This term is kept in the HPO for now as 'ectodermal dysplasia' has been recorded as a phenotypic of other disorders such as DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA (MIM125050). Nevertheless it is preferable to use precise descriptions of the phenotypic abnormalities and this term should not be used for new annotations. It will be made obsolete in the future. |
HP:0011354 |
| HPO |
HP:0000969 |
Edema |
"An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body." [HPO:probinson] |
Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability. |
HP:0011032 |
| HPO |
HP:0000970 |
Anhidrosis |
"Inability to sweat." [HPO:probinson] |
— |
HP:0025276 |
| HPO |
HP:0000971 |
Abnormal sweat gland morphology |
"Any structural abnormality of the sweat gland." [HPO:probinson] |
— |
HP:0011138 |
| HPO |
HP:0000972 |
Palmoplantar hyperkeratosis |
"Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot." [HPO:probinson] |
The terms hyperkeratosis and keratoderma have been used interchangeably throughout the literature. |
HP:0007556, HP:0010765 |
| HPO |
HP:0000973 |
Cutis laxa |
"Wrinkled, redundant, inelastic and sagging skin." [HPO:probinson] |
— |
HP:0008067 |
| HPO |
HP:0000974 |
Hyperextensible skin |
"A condition in which the skin can be stretched beyond normal, and then returns to its initial position." [HPO:sdoelken] |
Skin hyperelasticity is to be distinguished from cutis laxa, which refers to extra, redundant skin which tends to hang in folds. |
HP:0008067 |
| HPO |
HP:0000975 |
Hyperhidrosis |
"Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather." [HPO:probinson] |
The terms hyperhidrosis and diaphoresis are often used interchangeably to describe excessive perspiration. Diaphoresis can be used to refer to excessive sweating that occurs with certain diseases (secondary hyperhidrosis). Since the HPO does not intend to provide coess for etiologies or diseases, we will use these terms interchangeably to refer to excessive perspiration without an appropriate cause such as hot and humid weather. |
HP:0007550 |