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1.

Acheiropodia

Acheiropody is characterized by bilateral congenital amputations of the upper and lower extremities and aplasia of the hands and feet. Specific patterns of malformations consist of a complete amputation of the distal epiphysis of the humerus, amputation of the distal part of the tibial diaphysis, and aplasia of the radius, ulna, fibula, and of the carpal, metacarpal, tarsal, metatarsal, and phalangeal bones (summary by Ianakiev et al., 2001). [from GTR]

MedGen UID:
120547
Concept ID:
C0265559
Congenital Abnormality
2.

Narrowing

MedGen UID:
839288
Concept ID:
C3854333
Anatomical Abnormality
3.

Aplasia

MedGen UID:
537145
Concept ID:
C0243065
Pathologic Function
4.

Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [from HPO]

MedGen UID:
141025
Concept ID:
C0441748
Genetic Function; Intellectual Product
5.

Bilateral

Being present on both sides of the body. [from HPO]

MedGen UID:
65977
Concept ID:
C0238767
Spatial Concept
6.

Developmental disorder

A disorder diagnosed in childhood that is marked by either physical or mental impairment or both, which in turn affects the child from achieving age related developmental milestones. [from NCI]

MedGen UID:
3367
Concept ID:
C0008073
Mental or Behavioral Dysfunction
7.

Congenital anomaly of upper limb

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

MedGen UID:
152892
Concept ID:
C0749794
Congenital Abnormality
8.

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
9.

Congenital anomaly of lower limb

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

MedGen UID:
96571
Concept ID:
C0431943
Congenital Abnormality
10.

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
11.

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
12.

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
13.

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
14.

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
15.

Disorder of musculoskeletal system

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

MedGen UID:
6471
Concept ID:
C0026857
Disease or Syndrome
16.

Genetic Linkage

The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME. [from MeSH]

MedGen UID:
6102
Concept ID:
C0023745
Molecular Function
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.

Consanguinity

The magnitude of INBREEDING in humans. [from MeSH]

MedGen UID:
3213
Concept ID:
C0009789
Finding
19.

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
20.

Congenital Hand and Foot Deformity

A malformation in the hand or foot that is present at birth. Representative examples include syndactyly, polydactyly, brachydactyly, and thumb hypoplasia. [from NCI]

MedGen UID:
823772
Concept ID:
C3831024
Congenital Abnormality
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