From HPO
Hydrocele testis- MedGen UID:
- 318568
- •Concept ID:
- C1720771
- •
- Congenital Abnormality
Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.
Predominantly lower limb lymphedema- MedGen UID:
- 320552
- •Concept ID:
- C1835228
- •
- Finding
Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs.
Palpebral edema- MedGen UID:
- 57877
- •Concept ID:
- C0162285
- •
- Pathologic Function
Edema in the region of the eyelids.
Abnormality of the dentition- MedGen UID:
- 78084
- •Concept ID:
- C0262444
- •
- Finding
Any abnormality of the teeth.
Absent eyebrow- MedGen UID:
- 98133
- •Concept ID:
- C0431448
- •
- Congenital Abnormality
Absence of the eyebrow.
Sparse scalp hair- MedGen UID:
- 346499
- •Concept ID:
- C1857042
- •
- Finding
Decreased number of hairs per unit area of skin of the scalp.
Alopecia- MedGen UID:
- 7982
- •Concept ID:
- C0002170
- •
- Finding
A noncongenital process of hair loss, which may progress to partial or complete baldness.
Abnormal sweat gland morphology- MedGen UID:
- 892310
- •Concept ID:
- C0262643
- •
- Anatomical Abnormality
Any structural abnormality of the sweat gland.
Thin skin- MedGen UID:
- 140848
- •Concept ID:
- C0423757
- •
- Finding
Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.
Abnormal nail morphology- MedGen UID:
- 163115
- •Concept ID:
- C0853087
- •
- Anatomical Abnormality
Abnormal structure or appearance of the nail.
Absent eyelashes- MedGen UID:
- 334299
- •Concept ID:
- C1843005
- •
- Congenital Abnormality
Lack of eyelashes.
Palmar telangiectasia- MedGen UID:
- 866602
- •Concept ID:
- C4020948
- •
- Anatomical Abnormality
The presence of telangiectases on the skin of palm of hand.
Non-immune hydrops fetalis- MedGen UID:
- 105327
- •Concept ID:
- C0455988
- •
- Disease or Syndrome
Hydrops fetalis is a descriptive term for generalized edema of the fetus, with fluid accumulation in extravascular components and body cavities. It is not a diagnosis in itself, but a symptom and end-stage result of a wide variety of disorders. In the case of immune hydrops fetalis, a frequent cause is maternofetal incompatibility as in that related to a number of genetic anemias and metabolic disorders expressed in the fetus; in other instances, it remains idiopathic and likely multifactorial (summary by Bellini et al., 2009).
Nonimmune hydrops fetalis accounts for 76 to 87% of all described cases of hydrops fetalis (Bellini et al., 2009).
Genetic Heterogeneity of Hydrops Fetalis
In southeast Asia, alpha-thalassemia (604131) is the most common cause of hydrops fetalis, accounting for 60 to 90% of cases. Almost all of these cases result from homozygous deletion of the HBA1 (141800) and HBA2 (141850) genes. A few cases have been reported that had 1 apparently normal alpha-globin gene, termed the hemoglobin H (613978) hydrops fetalis syndrome (summary by Chui and Waye, 1998).
Other genetic disorders predisposing to NIHF include other congenital anemias, such as erythropoietic porphyria (e.g., 606938.0013), and many metabolic disorders, such as one form of Gaucher disease (e.g., 606463.0009), infantile sialic acid storage disease (269920), mucopolysaccharidosis type VII (253220), glycogen storage disease IV (232500), congenital disorder of glycosylation type Ia (212065), and disorders of lymphatic malformation (see, e.g., LMPHM1, 153100).
- Abnormality of head or neck
- Abnormality of metabolism/homeostasis
- Abnormality of prenatal development or birth
- Abnormality of the genitourinary system
- Abnormality of the integument