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Items: 16

1.

Polydactyly

A congenital abnormality characterized by more than 5 digits on a hand or foot. [from NCI]

MedGen UID:
57774
Concept ID:
C0152427
Congenital Abnormality
2.

Polydactyly

MedGen UID:
776570
Concept ID:
C2117329
Finding
3.

Base Pair

Pairing of purine and pyrimidine bases by HYDROGEN BONDING in double-stranded DNA or RNA. [from MeSH]

MedGen UID:
108706
Concept ID:
C0600436
Molecular Function
4.

Preaxial polydactyly

A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe. [from HPO]

MedGen UID:
87498
Concept ID:
C0345354
Congenital Abnormality
5.

beta-Galactosidase

A group of enzymes that catalyzes the hydrolysis of terminal, non-reducing beta-D-galactose residues in beta-galactosides. Deficiency of beta-Galactosidase A1 may cause GANGLIOSIDOSIS, GM1. [from MeSH]

MedGen UID:
550
Concept ID:
C0005220
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
6.

Progressive pseudorheumatoid dysplasia

Progressive pseudorheumatoid dysplasia (PPD) is a skeletal dysplasia characterized by predominant involvement of articular cartilage with progressive joint stiffness and enlargement in the absence of inflammation. Onset – typically between ages three and six years – begins with the involvement of the interphalangeal joints. Over time, involvement of large joints and the spine causes significant joint contractures, gait disturbance, and scoliosis and/or kyphosis, resulting in abnormal posture and significant morbidity. Despite the considerable arthropathy, pain is not a major presenting feature of this condition. Initially height is normal; however, short stature (<3rd centile) becomes evident in adolescence as the skeletal changes progress. [from GTR]

MedGen UID:
96581
Concept ID:
C0432215
Congenital Abnormality
7.

Endoglycosidases

MedGen UID:
760845
Concept ID:
C3537242
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
8.

Lactogest

MedGen UID:
327777
Concept ID:
C1564492
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
9.

Dairyaid

MedGen UID:
289840
Concept ID:
C1564491
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
10.

Lactrase

MedGen UID:
152475
Concept ID:
C0721296
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
11.

Lactaid

MedGen UID:
149213
Concept ID:
C0733877
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
12.

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
13.

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
14.

Disorder of musculoskeletal system

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

MedGen UID:
6471
Concept ID:
C0026857
Disease or Syndrome
15.

Glycosidase

covering the sugar hydrolases. [from CRISP]

MedGen UID:
5349
Concept ID:
C0017976
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
16.

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
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