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Items: 7

1.

Immunodeficiency

MedGen UID:
505335
Concept ID:
CN002471
Finding
2.

Spondylometaepiphyseal dysplasia short limb-hand type

MedGen UID:
338595
Concept ID:
C1849011
Disease or Syndrome
3.

Ganglioside sialidase deficiency

Mucolipidosis IV is characterized by severe psychomotor delay evident by the end of the first year of life and slowly progressive visual impairment during the first decade as a result of a combination of corneal clouding and retinal degeneration. By the end of the first decade of life and certainly by their early teens, all individuals with typical mucolipidosis IV have severe visual impairment as a result of retinal degeneration. Neurodegeneration is thought to occur in no more than 15% of individuals. About 5% of individuals have atypical mucolipidosis IV, often manifest as less severe psychomotor retardation and/or eye findings. Although in the past, mucolipidosis IV was considered an Ashkenazi Jewish disease, currently most affected individuals are non-Ashkenazi Jewish. [from GeneReviews]

MedGen UID:
68663
Concept ID:
C0238286
Disease or Syndrome
4.

HIV

An infection caused by the human immunodeficiency virus. [from NCI]

MedGen UID:
5583
Concept ID:
C0019693
Disease or Syndrome
5.

IMMUNODEFICIENCY 46

MedGen UID:
852150
Concept ID:
CN234781
Disease or Syndrome
6.

Immunodeficiency 36

MedGen UID:
807501
Concept ID:
CN219437
Disease or Syndrome
7.

Hypoproteinemia, hypercatabolic

MedGen UID:
343422
Concept ID:
C1855796
Disease or Syndrome
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