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Results: 19

1.

Unrelated

Not connected or associated e.g. by kinship. [from NCI]

MedGen UID:
99027
Concept ID:
C0445356
Finding
2.

Hereditary mucoepithelial dysplasia

Hereditary mucoepithelial dysplasia (HMD) is a rare autosomal dominant genodermatosis characterized by onset in infancy of a panepithelial defect involving the oral, nasal, conjunctival, vaginal, cervical, perineal, urethral, and bladder mucosa. Patients develop cataracts, blindness, nonscarring alopecia, perineal psoriasiform lesions, and follicular keratoses (Witkop et al., 1982). Although 1 family was reported to have progressive severe interstitial lung disease (Witkop et al., 1979), this feature has not been reported in other families and is not considered a criterion for diagnosis (review by Boralevi et al., 2005). [from OMIM]

MedGen UID:
220887
Concept ID:
C1274795
Congenital Abnormality
3.

Acute graft-versus-host disease

A syndrome of immologically mediated tissue damage occurring following allogeneic transplant usually affecting the skin, liver, and gi tract. Onset is usually within one hundred days of transplantation or immunologic manipulation. [from NCI]

MedGen UID:
208987
Concept ID:
C0856825
Disease or Syndrome
4.

Multiple sulfatase deficiency

Multiple sulfatase deficiency is an autosomal recessive inborn error of metabolism resulting in tissue accumulation of sulfatides, sulfated glycosaminoglycans, sphingolipids, and steroid sulfates. The enzymatic defect affects the whole family of sulfatase enzymes; thus, the disorder combines features of metachromatic leukodystrophy (250100) and of various mucopolysaccharidoses (see, e.g., MPS6; 253200). Affected individuals show neurologic deterioration with mental retardation, skeletal anomalies, organomegaly, and ichthyosis. Different types of MSD can be distinguished according to the age of onset: neonatal, late infantile (0 to 2 years), and juvenile (2 to 4 years). Neonatal MSD is the most severe form with a broad range of mucopolysaccharidosis-like symptoms and death within the first year of life. Late-infantile MSD, which includes the majority of cases, resembles late-infantile metachromatic leukodystrophy with progressive loss of mental and motor abilities and skeletal changes. There is also an attenuated form of late-infantile MSD with onset beyond the second year of life. Rare cases of juvenile-onset MSD have been reported with onset of symptoms in late childhood and slower progression (Blanco-Aguirre et al., 2001) (summary by Schlotawa et al., 2011). [from OMIM]

MedGen UID:
75664
Concept ID:
C0268263
Disease or Syndrome
5.

Acute

Symptoms or signs that begin and worsen quickly; not chronic. [from NCI]

MedGen UID:
61381
Concept ID:
C0205178
6.

Graft versus host disease

The clinical entity characterized by anorexia, diarrhea, loss of hair, leukopenia, thrombocytopenia, growth retardation, and eventual death brought about by the GRAFT VS HOST REACTION. [from MeSH]

MedGen UID:
9082
Concept ID:
C0018133
Disease or Syndrome
7.

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
8.

Viral disease

disease produced by viruses. [from CRISP]

MedGen UID:
53027
Concept ID:
C0042769
Disease or Syndrome
9.

Disease caused by parasite

Parasites are living things that use other living things - like your body - for food and a place to live. You can get them from contaminated food or water, a bug bite, or sexual contact. Parasitic diseases can cause mild discomfort or be deadly. Parasites range in size from tiny, one-celled organisms called protozoa to worms that can be seen with the naked eye. Some parasitic diseases happen in the United States. Contaminated water supplies can lead to Giardia infections. Cats can transmit toxoplasmosis, which is dangerous for pregnant women. Others, like malaria, are common in other parts of the world. . If you are traveling, it's important to drink only water you know is safe. Prevention is especially important. There are no vaccines for parasitic diseases. Some medicines are available to treat parasitic infections.  [from MedlinePlus]

MedGen UID:
45325
Concept ID:
C0030499
Disease or Syndrome
10.

Infection

Unknown contamination with disease-producing germs. [from HHCC]

MedGen UID:
43874
Concept ID:
C0021311
Disease or Syndrome
11.

Opportunistic infectious disease

Infection caused by an organism that is capable of causing disease in immunocompromised patients only (e.g. HIV-positive or transplanted patients).--2004 [from NCI]

MedGen UID:
18177
Concept ID:
C0029118
Disease or Syndrome
12.

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. [from MeSH]

MedGen UID:
14319
Concept ID:
C0027612
Disease or Syndrome
13.

Disorder of immune system

Your immune system is a complex network of cells, tissues, and organs that work together to defend against germs. It helps your body to recognize these foreign invaders. Then its job is to keep them out, or if it can't, to find and destroy them. If your immune system cannot do its job, the results can be serious. Disorders of the immune system include: -Allergy and asthma - immune responses to substances that are usually not harmful. -Immune deficiency diseases - disorders in which the immune system is missing one or more of its parts. -Autoimmune diseases - diseases causing your immune system to attack your own body's cells and tissues by mistake. NIH: National Institute of Allergy and Infectious Diseases.  [from MedlinePlus]

MedGen UID:
5759
Concept ID:
C0021053
Disease or Syndrome
14.

Host vs Graft Reaction

The immune responses of a host to a graft. A specific response is GRAFT REJECTION. [from MeSH]

MedGen UID:
5638
Concept ID:
C0020033
Pathologic Function
15.

Bacterial Infections and Mycoses

Infections caused by bacteria and fungi, general, specified, or unspecified. [from MeSH]

MedGen UID:
2161
Concept ID:
C0004615
Disease or Syndrome
16.

Acute infection of bone

MedGen UID:
731336
Concept ID:
C1444078
Disease or Syndrome
17.

Infection of bone graft

MedGen UID:
593338
Concept ID:
C0410798
Pathologic Function
18.

Disorder of bone graft

MedGen UID:
593337
Concept ID:
C0410797
Disease or Syndrome
19.

Disease condition determination, cured

MedGen UID:
512372
Concept ID:
C0184780
Finding

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