From HPO
Arthralgia- MedGen UID:
- 13917
- •Concept ID:
- C0003862
- •
- Sign or Symptom
Joint pain.
Arachnodactyly- MedGen UID:
- 2047
- •Concept ID:
- C0003706
- •
- Congenital Abnormality
Abnormally long and slender fingers (spider fingers).
Tall stature- MedGen UID:
- 69137
- •Concept ID:
- C0241240
- •
- Finding
A height above that which is expected according to age and gender norms.
Intestinal perforation- MedGen UID:
- 9525
- •Concept ID:
- C0021845
- •
- Disease or Syndrome
A hole (perforation) in the wall of the intestine.
Gingival bleeding- MedGen UID:
- 42218
- •Concept ID:
- C0017565
- •
- Pathologic Function
Hemorrhage affecting the gingiva.
Joint dislocation- MedGen UID:
- 41614
- •Concept ID:
- C0012691
- •
- Injury or Poisoning
Displacement or malalignment of joints.
Inguinal hernia- MedGen UID:
- 6817
- •Concept ID:
- C0019294
- •
- Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Umbilical hernia- MedGen UID:
- 9232
- •Concept ID:
- C0019322
- •
- Anatomical Abnormality
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Generalized joint hypermobility- MedGen UID:
- 322888
- •Concept ID:
- C1836308
- •
- Finding
Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. In individuals with Joint hypermobility at multiple sites (usually five or more), the term generalized joint hypermobility is preferred.
Joint hypermobility- MedGen UID:
- 336793
- •Concept ID:
- C1844820
- •
- Finding
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
Hiatus hernia- MedGen UID:
- 483347
- •Concept ID:
- C3489393
- •
- Acquired Abnormality
The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus.
Autoimmunity- MedGen UID:
- 2136
- •Concept ID:
- C0004368
- •
- Pathologic Function
The occurrence of an immune reaction against the organism's own cells or tissues.
Periodontitis- MedGen UID:
- 45815
- •Concept ID:
- C0031099
- •
- Disease or Syndrome
Inflammation of the periodontium.
Recurrent infections- MedGen UID:
- 65998
- •Concept ID:
- C0239998
- •
- Finding
Increased susceptibility to infections.
Hoarse voice- MedGen UID:
- 5602
- •Concept ID:
- C0019825
- •
- Sign or Symptom
Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.
Gingival recession- MedGen UID:
- 6607
- •Concept ID:
- C0017572
- •
- Finding
The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth.
Premature loss of teeth- MedGen UID:
- 66678
- •Concept ID:
- C0232513
- •
- Finding
Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal.
Alveolar bone loss around teeth- MedGen UID:
- 939930
- •Concept ID:
- C4315963
- •
- Finding
A decrease in the amount of alveolar bone around the root of a tooth.
Gingival fragility- MedGen UID:
- 939933
- •Concept ID:
- C4315966
- •
- Finding
Gums that are easily damaged.
Atrophic scars- MedGen UID:
- 57875
- •Concept ID:
- C0162154
- •
- Pathologic Function
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.
Hyperextensible skin- MedGen UID:
- 66023
- •Concept ID:
- C0241074
- •
- Finding
A condition in which the skin can be stretched beyond normal, and then returns to its initial position.
Fragile skin- MedGen UID:
- 66826
- •Concept ID:
- C0241181
- •
- Finding
Skin that splits easily with minimal injury.
Thin skin- MedGen UID:
- 140848
- •Concept ID:
- C0423757
- •
- Finding
Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.
Bruising susceptibility- MedGen UID:
- 140849
- •Concept ID:
- C0423798
- •
- Finding
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.
Prominent superficial veins- MedGen UID:
- 324870
- •Concept ID:
- C1837785
- •
- Finding
A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticeable than normal.
Soft skin- MedGen UID:
- 336730
- •Concept ID:
- C1844592
- •
- Finding
Subjective impression of increased softness upon palpation of the skin.
Poor wound healing- MedGen UID:
- 377525
- •Concept ID:
- C1851789
- •
- Finding
A reduced ability to heal cutaneous wounds.
Palmoplantar cutis laxa- MedGen UID:
- 341602
- •Concept ID:
- C1856714
- •
- Finding
Loose, wrinkled skin of hands and feet.
Pretibial hyperpigmentation- MedGen UID:
- 939948
- •Concept ID:
- C4315981
- •
- Finding
Darkening of the area of skin that overlies the shin.
Blue sclerae- MedGen UID:
- 154236
- •Concept ID:
- C0542514
- •
- Finding
An abnormal bluish coloration of the sclera.
- Abnormality of blood and blood-forming tissues
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the voice
- Constitutional symptom
- Growth abnormality