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Items: 1 to 20 of 66

1.

Symphalangism, distal

Distal symphalangism is ankylosis or rigidity of the distal interphalangeal joints of the hands and/or the feet (summary by Poush, 1991). [from OMIM]

MedGen UID:
350018
Concept ID:
C1861401
Disease or Syndrome
2.

Distal symphalangism of hands

The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases. [from HPO]

MedGen UID:
350607
Concept ID:
C1862158
Finding
3.

Distal osteosclerosis

MedGen UID:
338863
Concept ID:
C1852063
Disease or Syndrome
4.

Sclerosteosis

SOST-related sclerosing bone dysplasias include sclerosteosis and van Buchem disease; both are disorders of osteoblast hyperactivity. The major clinical features of sclerosteosis are progressive skeletal overgrowth and variable syndactyly, usually of the second (index) and third (middle) fingers. Affected individuals appear normal at birth except for syndactyly. Distinctive facial features including asymmetric mandibular hypertrophy, frontal bossing, and midface hypoplasia are usually apparent by mid-childhood. Hyperostosis of the skull results in narrowing of the foramina, causing entrapment of the seventh cranial nerve (often leading to facial palsy) and entrapment of the eighth cranial nerve (often resulting in deafness in mid-childhood). In sclerosteosis, hyperostosis of the calvarium reduces intracranial volume, increasing the risk for potentially lethal elevation of intracranial pressure. Survival of individuals with sclerosteosis into old age is unusual. The manifestations of van Buchem disease are generally milder than sclerosteosis and syndactyly is absent. Based on a few case reports, it is also likely that the spectrum of SOST-related sclerosing bone dysplasias includes an autosomal dominant form of craniodiaphyseal dysplasia (CDD). [from GeneReviews]

MedGen UID:
120530
Concept ID:
C0265301
Congenital Abnormality; Disease or Syndrome
5.

Mass of body structure

In medicine, a lump in the body. It may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction. A mass may be benign (not cancer) or malignant (cancer). [from NCI]

MedGen UID:
108287
Concept ID:
C0577559
Finding
6.

Distal

Localized away from the central point of the body. [from HPO]

MedGen UID:
64375
Concept ID:
C0205108
Spatial Concept
7.

Hyperostosis

Increase in the mass of bone per unit volume. [from MeSH]

MedGen UID:
9366
Concept ID:
C0020492
Disease or Syndrome
8.

Absence

MedGen UID:
739164
Concept ID:
C1689985
Anatomical Abnormality
9.

High bone mass

MedGen UID:
356443
Concept ID:
C1866080
Finding
10.

Generalized

Affecting all regions without specificity of distribution. [from HPO]

MedGen UID:
104661
Concept ID:
C0205246
Spatial Concept
11.

Inborn genetic diseases

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
Disease or Syndrome
12.

Sequence Deletion

Deletion of sequences of nucleic acids from the genetic material of an individual. [from MeSH]

MedGen UID:
102460
Concept ID:
C0162773
Cell or Molecular Dysfunction
13.

Craniofacial Abnormalities

Craniofacial is a medical term that relates to the bones of the skull and face. Craniofacial abnormalities are birth defects of the face or head. Some, like cleft lip and palate, are among the most common of all birth defects. Others are very rare. Most of them affect how a person's face or head looks. These conditions may also affect other parts of the body. Treatment depends on the type of problem. Plastic and reconstructive surgery may help the person's appearance.  [from MedlinePlus]

MedGen UID:
91281
Concept ID:
C0376634
Congenital Abnormality
14.

Mutagenesis Process

OBSOLETE. The process by which genetic material undergoes a detectable and heritable structural change. There are three categories of mutation: genome mutations, involving addition or subtraction of one or more whole chromosomes; chromosome mutations, which alter the structure of chromosomes; and gene mutations, where the structure of a gene is altered at the molecular level. [ISBN:0198506732] [from GO]

MedGen UID:
86969
Concept ID:
C0079866
Molecular Function
15.

polysyndactyly

A rare anatomical malformation characterized by polydactyly (extra fingers or toes) and syndactyly (webbed fingers or toes). [from NCI]

MedGen UID:
78565
Concept ID:
C0265553
Congenital Abnormality
16.

Sugar

A white crystalline carbohydrate, typically sucrose, used as a sweetener and preservative. [from NCI]

MedGen UID:
69157
Concept ID:
C0242209
Carbohydrate; Organic Chemical; Pharmacologic Substance
17.

Congenital anomaly of limb

Congenital structural deformities of the upper and lower extremities collectively or unspecified. [from MeSH]

MedGen UID:
60222
Concept ID:
C0206762
Congenital Abnormality
18.

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; Disease or Syndrome
19.

Syndactyly

Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are revered to as \ [from HPO]

MedGen UID:
52619
Concept ID:
C0039075
Congenital Abnormality
20.

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
Congenital Abnormality; Disease or Syndrome
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