From HPO
Syndactyly- MedGen UID:
- 52619
- •Concept ID:
- C0039075
- •
- Congenital Abnormality
Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".
Clinodactyly of the 5th finger- MedGen UID:
- 340456
- •Concept ID:
- C1850049
- •
- Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Shallow acetabular fossae- MedGen UID:
- 344384
- •Concept ID:
- C1854910
- •
- Finding
Radial bowing- MedGen UID:
- 347136
- •Concept ID:
- C1859399
- •
- Anatomical Abnormality
A bending or abnormal curvature of the radius.
Limited pronation/supination of forearm- MedGen UID:
- 348328
- •Concept ID:
- C1861331
- •
- Finding
A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation).
Ulnar bowing- MedGen UID:
- 356099
- •Concept ID:
- C1865847
- •
- Finding
Bending of the diaphysis (shaft) of the ulna.
Sensorineural hearing loss disorder- MedGen UID:
- 9164
- •Concept ID:
- C0018784
- •
- Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Aplastic anemia- MedGen UID:
- 8063
- •Concept ID:
- C0002874
- •
- Disease or Syndrome
Aplastic anemia is a serious disorder of the bone marrow that affects between 2 and 5 persons per million per year. About 75% of these cases are classified as idiopathic (Young, 2000). In about 15% of cases a drug or infection can be identified that precipitates the aplasia, although why only some individuals are susceptible is unclear. In about 5 to 10% of patients, the aplastic anemia is constitutional--i.e., is familial or presents with one or more associated somatic abnormalities (summary by Vulliamy et al., 2002).
Congenital thrombocytopenia- MedGen UID:
- 124422
- •Concept ID:
- C0272278
- •
- Disease or Syndrome
Thrombocytopenia with congenital onset.
Amegakaryocytic thrombocytopenia- MedGen UID:
- 97985
- •Concept ID:
- C0398639
- •
- Disease or Syndrome
Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes.
Megakaryocytopenia- MedGen UID:
- 346881
- •Concept ID:
- C1858312
- •
- Finding
A reduced count of megakaryocytes.
Hip dislocation- MedGen UID:
- 42455
- •Concept ID:
- C0019554
- •
- Injury or Poisoning
Displacement of the femur from its normal location in the hip joint.
Proximal radio-ulnar synostosis- MedGen UID:
- 436690
- •Concept ID:
- C2676443
- •
- Finding
An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna.
Petechiae- MedGen UID:
- 10680
- •Concept ID:
- C0031256
- •
- Disease or Syndrome
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.
Purpura- MedGen UID:
- 19584
- •Concept ID:
- C0034150
- •
- Disease or Syndrome
Purpura (from Latin
- Abnormality of blood and blood-forming tissues
- Abnormality of limbs
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Ear malformation