From HPO
Horseshoe kidney- MedGen UID:
- 65140
- •Concept ID:
- C0221353
- •
- Congenital Abnormality
A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.
Renal cyst- MedGen UID:
- 854361
- •Concept ID:
- C3887499
- •
- Disease or Syndrome
A fluid filled sac in the kidney.
Aplasia of the bladder- MedGen UID:
- 869385
- •Concept ID:
- C4023812
- •
- Finding
Aplasia (absence) of the urinary bladder.
Abnormal internal genitalia- MedGen UID:
- 871334
- •Concept ID:
- C4025824
- •
- Anatomical Abnormality
An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male).
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).
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).
Postaxial foot polydactyly- MedGen UID:
- 384489
- •Concept ID:
- C2112129
- •
- Finding
Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.
Hepatic fibrosis- MedGen UID:
- 116093
- •Concept ID:
- C0239946
- •
- Disease or Syndrome
The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.
Isolated agenesis of gallbladder- MedGen UID:
- 82736
- •Concept ID:
- C0266251
- •
- Congenital Abnormality
A developmental defect in which the gallbladder fails to form.
Bile duct proliferation- MedGen UID:
- 120603
- •Concept ID:
- C0267818
- •
- Disease or Syndrome
Proliferative changes of the bile ducts.
Hepatic cysts- MedGen UID:
- 82761
- •Concept ID:
- C0267834
- •
- Disease or Syndrome
A cystic lesion located in the liver.
Cystic liver disease- MedGen UID:
- 1643791
- •Concept ID:
- C4551631
- •
- Disease or Syndrome
Anencephaly- MedGen UID:
- 8068
- •Concept ID:
- C0002902
- •
- Congenital Abnormality
Anencephaly is a condition that prevents the normal development of the brain and the bones of the skull. This condition results when a structure called the neural tube fails to close during the first few weeks of embryonic development. The neural tube is a layer of cells that ultimately develops into the brain and spinal cord. Because anencephaly is caused by abnormalities of the neural tube, it is classified as a neural tube defect.\n\nBecause the neural tube fails to close properly, the developing brain and spinal cord are exposed to the amniotic fluid that surrounds the fetus in the womb. This exposure causes the nervous system tissue to break down (degenerate). As a result, people with anencephaly are missing large parts of the brain called the cerebrum and cerebellum. These brain regions are necessary for thinking, hearing, vision, emotion, and coordinating movement. The bones of the skull are also missing or incompletely formed.\n\nBecause these nervous system abnormalities are so severe, almost all babies with anencephaly die before birth or within a few hours or days after birth.
Occipital encephalocele- MedGen UID:
- 4935
- •Concept ID:
- C0014067
- •
- Congenital Abnormality
A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp.
Hydrocephalus- MedGen UID:
- 9335
- •Concept ID:
- C0020255
- •
- Disease or Syndrome
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
Pulmonary hypoplasia- MedGen UID:
- 78574
- •Concept ID:
- C0265783
- •
- Congenital Abnormality
A congenital abnormality in which the lung parenchyma is not fully developed. It may be associated with other congenital abnormalities.
Bilobed right lung- MedGen UID:
- 539498
- •Concept ID:
- C0265792
- •
- Congenital Abnormality
A developmental defect of pulmonary lobation characterized by the presence of only two lobes of the right lung.
Cleft upper lip- MedGen UID:
- 40327
- •Concept ID:
- C0008924
- •
- Congenital Abnormality
A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Cleft palate- MedGen UID:
- 756015
- •Concept ID:
- C2981150
- •
- Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the digestive system
- Abnormality of the genitourinary system
- Abnormality of the nervous system
- Abnormality of the respiratory system