Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
---|---|---|---|---|
5p15.33 | {Leukemia, acute myeloid} | 601626 | AD, SMu | 3 |
{Melanoma, cutaneous malignant, 9} | 615134 | AD | 3 | |
Dyskeratosis congenita, autosomal dominant 2 | 613989 | AD, AR | 3 | |
Dyskeratosis congenita, autosomal recessive 4 | 613989 | AD, AR | 3 | |
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1 | 614742 | AD | 3 |
|
|
|
|
Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
---|---|---|---|---|
Xq28 | ?Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 | 301108 | XLD | 3 |
Dyskeratosis congenita, X-linked | 305000 | XLR | 3 |
|
|
|
|
|
|
|
Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
---|---|---|---|---|
20q13.33 | Dyskeratosis congenita, autosomal dominant 4 | 615190 | AD, AR | 3 |
Dyskeratosis congenita, autosomal recessive 5 | 615190 | AD, AR | 3 | |
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3 | 616373 | AD | 3 |
|
|
|
|
|
|
Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
---|---|---|---|---|
10q24.33 | Cerebroretinal microangiopathy with calcifications and cysts 2 | 617341 | AR | 3 |
|
|
|
|
|
|
Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
---|---|---|---|---|
17p13.1 | Cerebroretinal microangiopathy with calcifications and cysts | 612199 | AR | 3 |
|
|
|
|
|
|
Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
---|---|---|---|---|---|---|
5q35.3 | Dyskeratosis congenita, autosomal recessive 2 | 613987 | AR | 3 | NHP2 | 606470 |
|
|
|
|
Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
---|---|---|---|---|---|---|
17p13.1 | Dyskeratosis congenita, autosomal recessive 3 | 613988 | AR | 3 | WRAP53 | 612661 |
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|
|
|
Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
---|---|---|---|---|---|---|
5p15.33 | Dyskeratosis congenita, autosomal recessive 4 | 613989 | AD, AR | 3 | TERT | 187270 |
5p15.33 | Dyskeratosis congenita, autosomal dominant 2 | 613989 | AD, AR | 3 | TERT | 187270 |
|
|
|
|
Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
---|---|---|---|---|---|---|
14q12 | Dyskeratosis congenita, autosomal dominant 3 | 613990 | AD | 3 | TINF2 | 604319 |
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|
|
|
Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
---|---|---|---|---|---|---|
17p13.1 | Cerebroretinal microangiopathy with calcifications and cysts | 612199 | AR | 3 | CTC1 | 613129 |
Location | Phenotype | Inheritance |
Phenotype mapping key |
Phenotype MIM number |
Gene/Locus |
Gene/Locus MIM number |
---|---|---|---|---|---|---|
7q31.33 | ?Cerebroretinal microangiopathy with calcifications and cysts 3 | AR | 3 | 620368 | POT1 | 606478 |
10q24.33 | Cerebroretinal microangiopathy with calcifications and cysts 2 | AR | 3 | 617341 | STN1 | 613128 |
17p13.1 | Cerebroretinal microangiopathy with calcifications and cysts | AR | 3 | 612199 | CTC1 | 613129 |
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