From HPO
Unilateral renal agenesis- MedGen UID:
- 75607
- •Concept ID:
- C0266294
- •
- Congenital Abnormality
A unilateral form of agenesis of the kidney.
Hypoplasia of the radius- MedGen UID:
- 672334
- •Concept ID:
- C0685381
- •
- Congenital Abnormality
Underdevelopment of the radius.
Forearm reduction defects- MedGen UID:
- 336575
- •Concept ID:
- C1849327
- •
- Finding
Hypoplasia of the ulna- MedGen UID:
- 395934
- •Concept ID:
- C1860614
- •
- Congenital Abnormality
Underdevelopment of the ulna.
Absent thumb- MedGen UID:
- 480441
- •Concept ID:
- C3278811
- •
- Finding
Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues.
Unilateral radial aplasia- MedGen UID:
- 868730
- •Concept ID:
- C4023135
- •
- Finding
Missing radius bone on one side only associated with congenital failure of development.
Finger aplasia- MedGen UID:
- 1841564
- •Concept ID:
- C5779506
- •
- Congenital Abnormality
A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers).
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).
Short stature- MedGen UID:
- 87607
- •Concept ID:
- C0349588
- •
- Finding
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).
Atresia of the external auditory canal- MedGen UID:
- 78613
- •Concept ID:
- C0266597
- •
- Congenital Abnormality
Absence or failure to form of the external auditory canal.
Stenosis of the external auditory canal- MedGen UID:
- 140758
- •Concept ID:
- C0395837
- •
- Finding
An abnormal narrowing of the external auditory canal.
Anemia of inadequate production- MedGen UID:
- 95937
- •Concept ID:
- C0392708
- •
- Pathologic Function
A kind of anemia characterized by inadequate production of erythrocytes.
Granulocytic hypoplasia- MedGen UID:
- 488976
- •Concept ID:
- C1534864
- •
- Finding
Decreased number of granulocyte precursors in the bone marrow.
Bone marrow hypocellularity- MedGen UID:
- 383749
- •Concept ID:
- C1855710
- •
- Finding
A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.
Radioulnar synostosis- MedGen UID:
- 57861
- •Concept ID:
- C0158761
- •
- Congenital Abnormality
An abnormal osseous union (fusion) between the radius and the ulna.
Neutropenia- MedGen UID:
- 163121
- •Concept ID:
- C0853697
- •
- Finding
An abnormally low number of neutrophils in the peripheral blood.
Eyelid coloboma- MedGen UID:
- 141737
- •Concept ID:
- C0521573
- •
- Congenital Abnormality
A short discontinuity of the margin of the lower or upper eyelid.
Bilateral cleft palate- MedGen UID:
- 765998
- •Concept ID:
- C3553084
- •
- Finding
Nonmidline cleft palate on the left and right sides.
- Abnormality of blood and blood-forming tissues
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the cardiovascular system
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the musculoskeletal system
- Ear malformation
- Growth abnormality