Appendiceal adenocarcinoma is a cancer that begins in the inner lining of the appendix. The lining is made of gland-forming cells that can make mucus (a thick, ...
Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Appendix adenocarcinoma is a cancer that begins in the gland-forming cells that line the inside of the appendix (a small, finger-like pouch at the start of the ...
Ulick syndrome—better known today as Apparent Mineralocorticoid Excess (AME)—is a rare, inherited condition where the kidneys are “tricked” into acting like ...
Cortisone reductase deficiency (CRD) is a rare genetic condition where the body cannot properly reactivate cortisone into cortisol inside cells. Normally, an ...
Apparent mineralocorticoid excess (AME) is a rare, usually childhood-onset condition where the body acts as if it has too much aldosterone (the salt-retaining ...
11β-HSD2 deficiency is a rare genetic condition in which the body cannot properly switch the hormone cortisol into its inactive form, cortisone, inside certain ...
Apparent mineralocorticoid excess is a rare condition where the body acts as if it has too much aldosterone (the salt-retaining hormone), even though ...
Congenital absence of the foot means a baby is born without the entire foot and ankle on one or both legs. On X-ray there are no bones below the tibia or ...
Apodia means a baby is born without a foot and ankle. In apodia, there are no bones past the lower-leg bones (the tibia and fibula). The lower leg itself is ...
Congenital absence of the lacrimal puncta and salivary glands means a baby is born without one or both tiny tear openings on the eyelid edge (the lacrimal ...
Aplasia of Lacrimal and Salivary Glands (ALSG) is a rare, inherited condition where the tear-making glands near the eyes (lacrimal glands) and the ...
Gershoni-Baruch-Leibo syndrome is an ultra-rare, inherited disorder in which a baby is born with a small area on the scalp where skin did not fully form ...
Aplasia cutis–myopia syndrome is an extremely rare genetic condition that links a birth defect of the skin with serious eye problems. Babies are born with a ...
Bronspiegel–Zelnick syndrome is another name for aplasia cutis congenita–intestinal lymphangiectasia syndrome. Babies are born with aplasia cutis congenita ...
Autosomal recessive aplasia cutis is a birth condition where a baby is born with one or more small areas of skin missing. “Autosomal recessive” means a baby ...
Aplasia cutis congenita–intestinal lymphangiectasia (ACC-IL) syndrome is an extremely rare inherited disorder seen at birth. This is a very rare association ...
Aplasia Cutis Congenita (ACC) with Autosomal Recessive Disease means a baby is born with a patch where skin did not form. It is present at birth. The patch may ...
Aplasia cutis congenita (ACC) means a baby is born with one or more small areas where the skin is missing. In most babies, the patch is on the scalp (often on ...
Aphonia–hearing loss–retinal dystrophy–duplicated (bifid) halluces–intellectual disability syndrome is an extremely rare genetic syndrome that affects several ...
Aphonia–deafness–retinal dystrophy–bifid halluces–intellectual disability syndrome is an extremely rare, genetic condition that affects many parts of the body ...
