Disease association ontology term - MONDO:0100137 - telomere syndrome
Term summary
ID
MONDO:0100137
Name
telomere syndrome
Ontology or CV name
Disease association
Definition
Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths.
Parents
is_a
premature aging syndrome
Annotation
Disease association
MONDO:0100137
-
telomere syndrome
References:
PB_REF:0000003
Genes:
ter1 (SPNCRNA.214)
trt1 (SPBC29A3.14c)
MONDO:0015026
-
cerebroretinal microangiopathy with calcifications and cysts 2
References:
PB_REF:0000006
Genes:
stn1 (SPBC409.12c)
MONDO:0957264
-
cerebroretinal microangiopathy with calcifications and cysts 3
References:
PB_REF:0000006
Genes:
pot1 (SPAC26H5.06)
MONDO:0007485
-
dyskeratosis congenita, autosomal dominant 1
References:
PB_REF:0000006
Genes:
ter1 (SPNCRNA.214)
MONDO:0014690
-
dyskeratosis congenita, autosomal dominant 6
References:
PB_REF:0000006
Genes:
tpz1 (SPAC6F6.16c)
MONDO:0957261
-
pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7
References:
PB_REF:0000006
Genes:
naf1 (SPBC30D10.15)
MONDO:0957263
-
pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8
References:
PB_REF:0000006
Genes:
pot1 (SPAC26H5.06)
MONDO:0957294
-
pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9
References:
PB_REF:0000006
Genes:
nop10 (SPAP27G11.13c)
MONDO:0013878
-
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
References:
PB_REF:0000006
Genes:
trt1 (SPBC29A3.14c)
MONDO:0013879
-
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2
References:
PB_REF:0000006
Genes:
ter1 (SPNCRNA.214)
MONDO:0014612
-
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
References:
PB_REF:0000006
Genes:
tri1 (SPBC29A10.09c)
MONDO:0030690
-
pulmonary fibrosis and/or bone marrow failure, telomere-related, 6
References:
PB_REF:0000006
Genes:
ssb1 (SPBC660.13c)