From HPO
Renovascular hypertension- MedGen UID:
- 43786
- •Concept ID:
- C0020545
- •
- Disease or Syndrome
The presence of hypertension related to stenosis of the renal artery.
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".
Brachydactyly- MedGen UID:
- 67454
- •Concept ID:
- C0221357
- •
- Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Finger clinodactyly- MedGen UID:
- 120550
- •Concept ID:
- C0265610
- •
- Congenital Abnormality
Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging.
Carotid artery stenosis- MedGen UID:
- 785
- •Concept ID:
- C0007282
- •
- Disease or Syndrome
Narrowing of the carotid arteries.
Renal artery stenosis- MedGen UID:
- 19727
- •Concept ID:
- C0035067
- •
- Disease or Syndrome
The presence of stenosis of the renal artery.
Bicuspid aortic valve- MedGen UID:
- 57436
- •Concept ID:
- C0149630
- •
- Congenital Abnormality
Aortic valve disease-2 (AOVD2) is characterized by bicuspid aortic valve (BAV) and dilation of the ascending aorta. Calcification of the valve and the aorta has been observed, and some patients exhibit coarctation of the aorta (Tan et al., 2012; Luyckx et al., 2019; Park et al., 2019).
For a general phenotypic description and a discussion of genetic heterogeneity of aortic valve disease, see AOVD1 (109730).
Coronary artery stenosis- MedGen UID:
- 66859
- •Concept ID:
- C0242231
- •
- Disease or Syndrome
Abnormal narrowing of the coronary artery.
Decreased body weight- MedGen UID:
- 1806755
- •Concept ID:
- C5574742
- •
- Finding
Abnormally low body weight.
Intellectual disability- MedGen UID:
- 811461
- •Concept ID:
- C3714756
- •
- Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Recurrent fractures- MedGen UID:
- 42094
- •Concept ID:
- C0016655
- •
- Injury or Poisoning
The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).
Increased susceptibility to fractures- MedGen UID:
- 234655
- •Concept ID:
- C1390474
- •
- Finding
An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.
- Abnormality of limbs
- Abnormality of the cardiovascular system
- Abnormality of the genitourinary system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Growth abnormality