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1.

Van der Woude syndrome

IRF6-related disorders span a spectrum from isolated cleft lip and palate and Van der Woude syndrome (VWS) at the mild end to popliteal pterygium syndrome (PPS) at the more severe end. Individuals with VWS show one or more of the following anomalies: Congenital, usually bilateral, paramedian lower-lip fistulae (pits) or sometimes small mounds with a sinus tract leading from a mucous gland of the lip. Cleft lip (CL). Cleft palate (CP). Note: Cleft lip with or without cleft palate (CL±P) is observed about twice as often as CP only. Submucous cleft palate (SMCP). The PPS phenotype includes the following: CL±P. Fistulae of the lower lip. Webbing of the skin extending from the ischial tuberosities to the heels. In males: bifid scrotum and cryptorchidism. In females: hypoplasia of the labia majora. Syndactyly of fingers and/or toes. Anomalies of the skin around the nails. A characteristic pyramidal fold of skin overlying the nail of the hallux (almost pathognomonic). In some non-classic forms of PPS: filiform synechiae connecting the upper and lower jaws (syngnathia) or the upper and lower eyelids (ankyloblepharon). In both VWS and PPS, growth and intelligence are normal. [from GTR]

MedGen UID:
61233
Concept ID:
C0175697
Disease or Syndrome
2.

Syndrome

A characteristic symptom complex. [from MeSH]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
3.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
4.

Branchial cleft, cyst or fistula; preauricular sinus

MedGen UID:
510595
Concept ID:
C0158595
Disease or Syndrome
5.

der(1;16)(q10;p10)

MedGen UID:
272927
Concept ID:
C1515617
Cell or Molecular Dysfunction
6.

Van der Woude syndrome 2

Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome. For a discussion of genetic heterogeneity of van der Woude syndrome, see VWS1 (119300). [from GTR]

MedGen UID:
338272
Concept ID:
C1847604
Disease or Syndrome
7.

Amino acid

Any organic compounds containing amino (-NH2) and carboxyl (-COOH) groups. In biochemistry, used to refer to the twenty-plus L-alpha-amino acids found in proteins. [from NCI]

MedGen UID:
250
Concept ID:
C0002520
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
8.

Oral cleft

MedGen UID:
893092
Concept ID:
C4021813
Congenital Abnormality
9.

Interferon

Human interferons have been classified into 3 groups: alpha, beta, and gamma. Both alpha- and beta-IFNs, previously designated type I, are acid-stable, but they differ immunologically and in regard to some biologic and physiochemical properties. The IFNs produced by virus-stimulated leukocytes (leukocyte IFNs) are predominantly of the alpha type. Those produced by lymphoblastoid cells are about 90% alpha and 10% beta. Induced fibroblasts produce mainly or exclusively the beta type. The alpha- and beta-IFNs differ widely in amino acid sequence. The gamma or immune IFNs, which are produced by T lymphocytes in response to mitogens or to antigens to which they are sensitized, are acid-labile and serologically distinct from alpha- and beta-IFNs. (from OMIM 147570) [from NCI]

MedGen UID:
196514
Concept ID:
C0733470
Amino Acid, Peptide, or Protein; Immunologic Factor; Pharmacologic Substance
10.

Mutant

An altered form of an individual, organism, population, or genetic character that differs from the corresponding wild type due to one or more alterations (mutations). [from NCI]

MedGen UID:
109303
Concept ID:
C0596988
Cell or Molecular Dysfunction
11.

Interferon

Proteins secreted by vertebrate cells in response to a wide variety of inducers. They confer resistance against many different viruses, inhibit proliferation of normal and malignant cells, impede multiplication of intracellular parasites, enhance macrophage and granulocyte phagocytosis, augment natural killer cell activity, and show several other immunomodulatory functions. [from MeSH]

MedGen UID:
5847
Concept ID:
C0021747
Amino Acid, Peptide, or Protein; Immunologic Factor; Pharmacologic Substance
12.

Pathological Conditions, Anatomical

An abnormal structural condition of the human body, usually macroscopic, that is common to a variety of different diseases. [from MeSH]

MedGen UID:
155708
Concept ID:
C0752135
Pathologic Function
13.

Maxillofacial Abnormalities

Congenital structural deformities, malformations, or other abnormalities of the maxilla and face or facial bones. [from MeSH]

MedGen UID:
101209
Concept ID:
C0524948
Congenital Abnormality
14.

Craniofacial Abnormalities

Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones. [from MeSH]

MedGen UID:
91281
Concept ID:
C0376634
Congenital Abnormality
15.

Stomatognathic System Abnormalities

Congenital structural abnormalities of the mouth and jaws, including the dentition. [from MeSH]

MedGen UID:
67053
Concept ID:
C0243057
Congenital Abnormality
16.

Congenital anomaly of musculoskeletal system

An abnormality of the musculoskeletal system that is present at birth or detected in the neonatal period. [from NCI]

MedGen UID:
57466
Concept ID:
C0151491
Congenital Abnormality
17.

Disorder of lip

A non-neoplastic or neoplastic disorder that affects the lips. Representative examples include inflammation and carcinoma. [from NCI]

MedGen UID:
44166
Concept ID:
C0023760
Disease or Syndrome
18.

Disorder of jaw

Diseases involving the JAW. [from MeSH]

MedGen UID:
43990
Concept ID:
C0022362
Disease or Syndrome
19.

Cyst

A sac-like closed membranous structure that may be empty or contain fluid or amorphous material. [from NCI]

MedGen UID:
41396
Concept ID:
C0010709
Disease or Syndrome
20.

Cleft upper lip

A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. [from HPO]

MedGen UID:
40327
Concept ID:
C0008924
Congenital Abnormality
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