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1.

Cohen syndrome

Cohen syndrome is characterized by failure to thrive in infancy and childhood; truncal obesity in the teen years; early-onset hypotonia and developmental delays; microcephaly developing during the first year of life; moderate to profound psychomotor retardation; progressive retinochoroidal dystrophy and high myopia; neutropenia in many with recurrent infections and aphthous ulcers in some; a cheerful disposition; joint hypermobility; and characteristic facial features. [from GTR]

MedGen UID:
78539
Concept ID:
C0265223
Congenital Abnormality
2.

Autosomal Recessive Disorder

An inherited disorder manifested only when two copies of a mutated gene are present. [from NCI]

MedGen UID:
859582
Concept ID:
C3899988
Disease or Syndrome
3.

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
4.

Granulocytopenia

A decrease in the number of GRANULOCYTES; (BASOPHILS; EOSINOPHILS; and NEUTROPHILS). [from MeSH]

MedGen UID:
7932
Concept ID:
C0001824
Disease or Syndrome
5.

Neutropenic disorder

A decrease in the number of NEUTROPHILS found in the blood. [from MeSH]

MedGen UID:
18030
Concept ID:
C0027947
Disease or Syndrome
6.

Syndrome

A characteristic symptom complex. [from MeSH]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
7.

Multiple congenital anomalies

Congenital abnormalities that affect more than one organ or body structure. [from MeSH]

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
8.

Congenital anomalies

MedGen UID:
851041
Concept ID:
CN232116
Disease or Syndrome
9.

Intellectual disability

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. [from HPO]

MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
10.

Multiple congenital anomalies

MedGen UID:
807337
Concept ID:
CN218431
Finding
11.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
12.

Agonist

An agent that has affinity for a receptor and intrinsic activity at that receptor. [from NCI]

MedGen UID:
459858
Concept ID:
C2987634
Pharmacologic Substance
13.

Intellectual disability

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. [from HPO]

MedGen UID:
334384
Concept ID:
C1843367
Finding
14.

Neutropenia

A decrease in the number of neutrophils in the peripheral blood. [from NCI]

MedGen UID:
163121
Concept ID:
C0853697
Finding
15.

Generalized essential telangiectasia

MedGen UID:
105370
Concept ID:
C0473555
Disease or Syndrome
16.

Generalized

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

MedGen UID:
104661
Concept ID:
C0205246
Spatial Concept
17.

Severity

The intensity or degree of a manifestation. [from HPO]

MedGen UID:
101096
Concept ID:
C0522510
Qualitative Concept
18.

Peripheral

On or near an edge or constituting an outer boundary; the outer area. [from NCI]

MedGen UID:
59959
Concept ID:
C0205100
Spatial Concept
19.

Adhesion

A fibrous band of tissue that connects normally separate body regions.(NICHD) [from NCI]

MedGen UID:
7891
Concept ID:
C0001511
Pathologic Function
20.

Intellectual functioning disability

A developmental disorder characterized by less than average intelligence and significant limitations in adaptive behavior with onset before the age of 18. [from NCI]

MedGen UID:
7544
Concept ID:
C0025362
Mental or Behavioral Dysfunction
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