| HPO |
HP:0001030 |
Fragile skin |
"Skin that splits easily with minimal injury." [HPO:probinson] |
— |
HP:0011354 |
| HPO |
HP:0000023 |
Inguinal hernia |
"Protrusion of the contents of the abdominal cavity through the inguinal canal." [HPO:probinson] |
Inguinal hernia appears as a bulge in the groin. |
HP:0004299 |
| HPO |
HP:0000225 |
Gingival bleeding |
"Hemorrhage affecting the gingiva." [HPO:ibailleulforestier] |
— |
HP:0000168, HP:0001892 |
| HPO |
HP:0000704 |
Periodontitis |
"Inflammation of the periodontium." [HPO:ibailleulforestier] |
— |
HP:0000164, HP:0000168, HP:0012649 |
| HPO |
HP:0001382 |
Joint hypermobility |
"The ability of a joint to move beyond its normal range of motion." [HPO:probinson] |
— |
HP:0011729 |
| HPO |
HP:0001382 |
Joint hypermobility |
"The ability of a joint to move beyond its normal range of motion." [HPO:probinson] |
— |
HP:0011729 |
| HPO |
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] |
— |
HP:0000005 |
| HPO |
HP:0002829 |
Arthralgia |
"Joint pain." [HPO:probinson] |
Arthralgia is distinct from Arthritis, which is not a symptom but a diagnosis with articular inflammation or signs of osteoarthritis. |
HP:0012531 |
| HPO |
HP:0000978 |
Bruising susceptibility |
"An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma." [HPO:probinson] |
An ecchymosis is defined as being larger than 1 cm in size. |
HP:0001933 |
| HPO |
HP:0002664 |
Neoplasm |
"An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour)." [HPO:probinson] |
The World Health Organization (WHO) classifies neoplasms into four main groups: (i) benign neoplasm, (ii) in situ neoplasm, (iii) malignant neoplasm, and (iv) neoplasm of uncertain or unknown behavior. A malignant neoplasm is also known as cancer. |
HP:0000118 |
| HPO |
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:probinson] |
— |
HP:0001551, HP:0004299 |
| HPO |
HP:0002650 |
Scoliosis |
"The presence of an abnormal lateral curvature of the spine." [HPO:probinson] |
— |
HP:0010674 |
| HPO |
HP:0012115 |
Hepatitis |
"Inflammation of the liver." [HPO:probinson] |
— |
HP:0012649, HP:0410042 |
| HPO |
HP:0005339 |
Abnormality of complement system |
"An abnormality of the complement system." [HPO:probinson, PMID:19388161] |
The complement system represents a family of over 25 serum proteins and cell surface receptors that act in a cascade manner leading to innate functions such as inflammation and enhancement of adaptive immunity. Three general pathways, i.e. classical, lectin and alternative, activate the complement system. |
HP:0005368 |
| HPO |
HP:0002725 |
Systemic lupus erythematosus |
"A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes." [HPO:probinson] |
This is a bundled term that describes a disease rather than a phenotypic feature, but is left for convenience for annotations of lupus conceived of as a feature of another disease. |
HP:0002960 |
| HPO |
HP:0000872 |
Hashimoto thyroiditis |
"A chronic, autoimmune type of thyroiditis associated with hypothyroidism." [HPO:probinson] |
— |
HP:0002960, HP:0100646 |
| HPO |
HP:0001075 |
Atrophic scars |
"Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin." [HPO:probinson] |
— |
HP:0000987, HP:0004334 |
| HPO |
HP:0005692 |
Joint hyperflexibility |
"Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles." [https://orcid.org/0000-0002-6548-5200] |
— |
HP:0001382 |
| HPO |
HP:0006349 |
Agenesis of permanent teeth |
"A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth." [HPO:probinson] |
— |
HP:0009804, HP:0011044 |
| HPO |
HP:0000212 |
Gingival overgrowth |
"Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown." [PMID:19125428] |
This finding is to be distinguished from overgrowth of the alveolar ridge. |
HP:0000168 |
| 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:0006308 |
Atrophy of alveolar ridges |
— |
— |
HP:0006477 |
| HPO |
HP:0000347 |
Micrognathia |
"Developmental hypoplasia of the mandible." [HPO:probinson] |
Mandibular hypoplasia, also known as micrognathia, is a term that describes an abnormally small lower jaw. |
HP:0009118 |
| 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:0000691 |
Microdontia |
"Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth." [HPO:ibailleulforestier, PMID:19125428] |
Standard reference has means and standard deviations by gender [Moyers et al, 1976]. It is easy to measure the width of teeth, for which reason the definition of microdontia can be made with reference to the width of the tooth. However, microdontia means that the overall size of the tooth is decreased. In microdontia, the gaps between the teeth, particularly the anterior upper and lower teeth, are increased, creating diastemata. This should be assessed and coded separately. |
HP:0006482 |