From HPO
Amenorrhea- MedGen UID:
- 8016
- •Concept ID:
- C0002453
- •
- Finding
Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months.
Clubfoot- MedGen UID:
- 3130
- •Concept ID:
- C0009081
- •
- Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Finger syndactyly- MedGen UID:
- 65139
- •Concept ID:
- C0221352
- •
- Congenital Abnormality
Webbing or fusion of the fingers, 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 in a proximo-distal axis are referred to as "Symphalangism".
Ulnar deviation of finger- MedGen UID:
- 68543
- •Concept ID:
- C0231679
- •
- Finding
Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.
Toe syndactyly- MedGen UID:
- 75581
- •Concept ID:
- C0265660
- •
- Congenital Abnormality
Webbing or fusion of the 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 toes in a proximo-distal axis are referred to as "Symphalangism".
Postaxial hand polydactyly- MedGen UID:
- 609221
- •Concept ID:
- C0431904
- •
- Congenital Abnormality
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Hypoplasia of the radius- MedGen UID:
- 672334
- •Concept ID:
- C0685381
- •
- Congenital Abnormality
Underdevelopment of the radius.
Fibular aplasia- MedGen UID:
- 373034
- •Concept ID:
- C1836186
- •
- Finding
Absence of the fibula.
Aplasia/Hypoplasia involving the metacarpal bones- MedGen UID:
- 322855
- •Concept ID:
- C1836192
- •
- Finding
Aplasia or Hypoplasia affecting the metacarpal bones.
Aplasia/Hypoplasia of the phalanges of the hand- MedGen UID:
- 341279
- •Concept ID:
- C1848670
- •
- Finding
Small or missing phalangeal bones of the fingers of the hand.
Aplasia/hypoplasia of the femur- MedGen UID:
- 376994
- •Concept ID:
- C1851310
- •
- Finding
Absence or underdevelopment of the femur.
Aplasia/Hypoplasia of the fibula- MedGen UID:
- 341608
- •Concept ID:
- C1856732
- •
- Finding
Absence or underdevelopment of the fibula.
Radial bowing- MedGen UID:
- 347136
- •Concept ID:
- C1859399
- •
- Anatomical Abnormality
A bending or abnormal curvature of the radius.
Abnormal finger flexion crease- MedGen UID:
- 347157
- •Concept ID:
- C1859481
- •
- Anatomical Abnormality
Anomalous flexion crease (i.e., a transverse line that crosses the skin of a finger).
Aplasia/Hypoplasia of metatarsal bones- MedGen UID:
- 348560
- •Concept ID:
- C1860182
- •
- Finding
Absence or underdevelopment of the metatarsal bones.
Aplasia/Hypoplasia of the ulna- MedGen UID:
- 356032
- •Concept ID:
- C1865571
- •
- Congenital Abnormality
Absence or underdevelopment of the ulna.
Patellar aplasia- MedGen UID:
- 401474
- •Concept ID:
- C1868578
- •
- Congenital Abnormality
Absence of the patella.
Aplasia/Hypoplasia of fingers- MedGen UID:
- 870620
- •Concept ID:
- C4025071
- •
- Anatomical Abnormality
Small/hypoplastic or absent/aplastic fingers.
Aplasia/Hypoplasia of the 5th finger- MedGen UID:
- 870623
- •Concept ID:
- C4025074
- •
- Anatomical Abnormality
A small/hypoplastic or absent/aplastic 5th finger.
Foot oligodactyly- MedGen UID:
- 923973
- •Concept ID:
- C4281601
- •
- Anatomical Abnormality
A developmental defect resulting in the presence of fewer than the normal number of toes.
Clinodactyly- MedGen UID:
- 1644094
- •Concept ID:
- C4551485
- •
- Congenital Abnormality
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
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).
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).
Congenital hip dislocation- MedGen UID:
- 9258
- •Concept ID:
- C0019555
- •
- Disease or Syndrome
Femoral bowing- MedGen UID:
- 347888
- •Concept ID:
- C1859461
- •
- Finding
Bowing (abnormal curvature) of the femur.
Hypoplastic iliac wing- MedGen UID:
- 351279
- •Concept ID:
- C1865027
- •
- Anatomical Abnormality
Underdevelopment of the ilium ala.
Hypoplastic pelvis- MedGen UID:
- 760700
- •Concept ID:
- C3536734
- •
- Anatomical Abnormality
Underdevelopment of the bony pelvis.
Absent toenail- MedGen UID:
- 336719
- •Concept ID:
- C1844555
- •
- Congenital Abnormality
Congenital absence of the toenail.
- Abnormality of limbs
- Abnormality of the genitourinary system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Growth abnormality