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Items: 1 to 20 of 35

1.

Brachydactyly

Congenital anomaly of abnormally short fingers or toes. [from MeSH]

MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
2.

Brachydactyly syndrome type B

MedGen UID:
722046
Concept ID:
C1300267
Disease or Syndrome
3.

Brachydactyly syndrome

Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely. [from HPO]

MedGen UID:
500899
Concept ID:
CN001088
Finding
4.

Aplasia

MedGen UID:
537145
Concept ID:
C0243065
Pathologic Function
5.

Brachydactyly type B1

MedGen UID:
349432
Concept ID:
C1862112
Congenital Abnormality; Finding
6.

Autosomal dominant inheritance

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. [from HPO]

MedGen UID:
141047
Concept ID:
C0443147
Genetic Function; Intellectual Product
7.

Unrelated

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

MedGen UID:
99027
Concept ID:
C0445356
Finding
8.

Distal

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

MedGen UID:
64375
Concept ID:
C0205108
Spatial Concept
9.

Congenital anomaly of upper limb

Congenital structural abnormalities of the UPPER EXTREMITY. [from MeSH]

MedGen UID:
152892
Concept ID:
C0749794
Congenital Abnormality
10.

Congenital anomaly of lower limb

Congenital structural abnormalities of the LOWER EXTREMITY. [from MeSH]

MedGen UID:
96571
Concept ID:
C0431943
Congenital Abnormality
11.

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
12.

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
13.

Abnormality of the foot

Alterations or deviations from normal shape or size which result in a disfigurement of the foot. [from MeSH]

MedGen UID:
8888
Concept ID:
C0016506
Anatomical Abnormality
14.

Congenital anomaly of the hand

Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth. [from MeSH]

MedGen UID:
6717
Concept ID:
C0018566
Congenital Abnormality
15.

Abnormality of the hand

Alterations or deviations from normal shape or size which result in a disfigurement of the hand. [from MeSH]

MedGen UID:
6715
Concept ID:
C0018564
Anatomical Abnormality
16.

Disorder of musculoskeletal system

A category of diseases that involve muscles and bones. [from NCI]

MedGen UID:
6471
Concept ID:
C0026857
Disease or Syndrome
17.

Congenital deformity of foot

Alterations or deviations from normal shape or size which result in a disfigurement of the foot occurring at or before birth. [from MeSH]

MedGen UID:
4762
Concept ID:
C0016508
Congenital Abnormality
18.

Developmental abnormality

Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period. [from NCI]

MedGen UID:
1254
Concept ID:
C0000768
Congenital Abnormality
19.

Brachydactyly of fingers

MedGen UID:
879780
Concept ID:
CN235165
Congenital Abnormality
20.

Type A brachydactyly

MedGen UID:
869982
Concept ID:
C4024413
Anatomical Abnormality
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