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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Chromosomal Instability (D043171)
Parent Node: Microcephaly (D008831)
Parent Node: Neoplasms (D009369)
..Starting node ..Chromosomal Instability with Tissue-Specific Radiosensitivity (C565848)
Child Nodes:
Sister Nodes:
..abc disease (C579754)
..Chromosomal Instability with Tissue-Specific Radiosensitivity (C565848)
..Cysts (D003560) 78
..Hamartoma (D006222) 26
..Neoplasms by Histologic Type (D009370) 696
..Neoplasms by Site (D009371) 492
..Neoplasms, Experimental (D009374) 37
..Neoplasms, Hormone-Dependent (D009376)
..Neoplasms, Multiple Primary (D009378) 24
..Neoplasms, Post-Traumatic (D017169)
..Neoplasms, Radiation-Induced (D009381) 3
..Neoplasms, Second Primary (D016609)
..Neoplastic Processes (D009385) 18
..Neoplastic Syndromes, Hereditary (D009386) 111
..Paraneoplastic Syndromes (D010257) 16
..Precancerous Conditions (D011230) 29
..Pregnancy Complications, Neoplastic (D011252) 7
..Tumor Virus Infections (D014412) 20
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2178

Name:

Chromosomal Instability with Tissue-Specific Radiosensitivity

Definition:

Alternative IDs:

ParentIDs:

MESH:D008831|MESH:D009369|MESH:D043171

TreeNumbers:

C04/C565848 |C05.660.207.620/C565848 |C10.500.507.400.500/C565848 |C16.131.621.207.620/C565848 |C16.131.666.507.400.500/C565848 |C23.550.210.110/C565848 |C23.550.362.180/C565848

Synonyms:

Slim Mappings:

Cancer|Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (process)

Reference:

MedGen: C565848
MeSH: C565848
OMIM: 215510;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003220	Abnormality of chromosome stability
3	HP:0001290	Generalized hypotonia
4	HP:0001263	Global developmental delay
5	HP:0001252	Hypotonia
6	HP:0011133	Increased sensitivity to ionizing radiation
7	HP:0000252	Microcephaly
8	HP:0002664	Neoplasm

Disease Causing ClinVar Variants