MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Hello! Guest! Please Login or Register! Clinician Mode

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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Ectodermal Dysplasia (D004476)
Parent Node: Hair Diseases (D006201)
Parent Node: Intellectual Disability (D008607)
Parent Node: Nail Diseases (D009260)
Parent Node: Photosensitivity Disorders (D010787)
Parent Node: Trichothiodystrophy Syndromes (D054463)
..Starting node ..TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Child Nodes:
Sister Nodes:
..Ichthyosis, Congenital, with Trichothiodystrophy (C566643)
..Sabinas brittle hair syndrome (C536320)
..Trichorrhexis nodosa syndrome (C536556)
..TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
..TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE (OMIM:616390)
..TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE (OMIM:616395)
..TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE (OMIM:300953)
..TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE (OMIM:616943)
..Trichothiodystrophy with Sun Sensitivity (C564733)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

12333

Name:

TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE

Definition:

Alternative IDs:

DO:DOID:2960

ParentIDs:

TreeNumbers:

C10.597.606.360/601675 |C16.131.077.350/601675 |C16.131.077.899/601675 |C16.131.831.350/601675 |C16.131.831.874/601675 |C16.320.850.250/601675 |C16.320.850.895/601675 |C17.800.329/601675 |C17.800.529/601675 |C17.800.600/601675 |C17.800.804.350/601675 |C17.800.804.8

Synonyms:

Slim Mappings:

Reference:

MedGen: 601675
MeSH: 601675
OMIM: 601675;
MSeqDR :
Genes: ERCC2; ERCC3; GTF2H5;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0010719	Abnormality of hair texture
3	HP:0000271	Abnormality of the face
4	HP:0000765	Abnormality of the thorax
5	HP:0002099	Asthma
6	HP:0002671	Basal cell carcinoma
7	HP:0002299	Brittle hair
8	HP:0000518	Cataract NAMDC: Cataracts
9	HP:0002028	Chronic diarrhea
10	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
11	HP:0000992	Cutaneous photosensitivity
12	HP:0000750	Delayed speech and language development NAMDC: Delayed language
13	HP:0000958	Dry skin
14	HP:0001019	Erythroderma
15	HP:0002213	Fine hair
16	HP:0001371	Flexion contracture
17	HP:0001808	Fragile nails
18	HP:0001480	Freckling
19	HP:0000135	Hypogonadism NAMDC: Hypoparathyroidism
20	HP:0004315	IgG deficiency
21	HP:0001249	Intellectual disability
22	HP:0005214	Intestinal obstruction
23	HP:0001097	Keratoconjunctivitis sicca	HP:0040283
24	HP:0007519	Lack of subcutaneous fatty tissue
25	HP:0002024	Malabsorption
26	HP:0000252	Microcephaly
27	HP:0000482	Microcornea	HP:0040283
28	HP:0000568	Microphthalmia	HP:0040283
29	HP:0008404	Nail dystrophy
30	HP:0000639	Nystagmus
31	HP:0000613	Photophobia
32	HP:0000411	Protruding ear	HP:0040283
33	HP:0002719	Recurrent infections
34	HP:0000278	Retrognathia
35	HP:0004322	Short stature NAMDC: Short stature (patient��s height is below the 3rd percentile)
36	HP:0001518	Small for gestational age
37	HP:0001792	Small nail
38	HP:0008070	Sparse hair
39	HP:0002860	Squamous cell carcinoma
40	HP:0000486	Strabismus
41	HP:0009886	Trichorrhexis nodosa

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000400.4(ERCC2):c.2195A>G (p.Asp732Gly)	2068	ERCC2	Conflicting interpretations of pathogenicity	-1	RCV001761786\|RCV001788837\|RCV002077207;	N	MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730\|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670\|MedGen:CN517202	19	45854975	45854975	T	C	45854975	-
NM_000400.4(ERCC2):c.2191-4G>A	2068	ERCC2	Conflicting interpretations of pathogenicity	rs201840907	RCV000967520\|RCV001135983\|RCV001294171;	N	MedGen:CN517202\|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730\|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670	19	45854983	45854983	C	T	19:g.45854983C>T	-
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro)	2068	ERCC2	Pathogenic	rs121913018	RCV000018270\|RCV001851906;	N	MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670\|MedGen:CN517202	19	45855484	45855484	C	G	19:g.45855484C>G	ClinGen:CA126881,UniProtKB:P18074#VAR_003631,OMIM:126340.0003	C1866504 601675 Trichothiodystrophy 1, photosensitive;
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp)	2068	ERCC2	Pathogenic	rs121913026	RCV000018283\|RCV000255624\|RCV000677676\|RCV000763052\|RCV001199920\|RCV001265586\|RCV001449816;	N	MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670\|MedGen:CN517202\|MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756\|MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756; MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364,Or	19	45855493	45855493	G	A	19:g.45855493G>A	ClinGen:CA126893,UniProtKB:P18074#VAR_003630,OMIM:126340.0014	C1853102 610756 Cerebrooculofacioskeletal syndrome 2;
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)	2068	ERCC2	Conflicting interpretations of pathogenicity	rs144564120	RCV000120774\|RCV000255243\|RCV000761018\|RCV000990227\|RCV000778547\|RCV001329855;	N	MedGen:CN169374\|MedGen:CN517202\|MedGen:C2826055\|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730\|MedGen:CN239291\|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670	19	45855507	45855507	G	C	19:g.45855507G>C	ClinGen:CA158773	CN517202 not provided;
NM_000400.4(ERCC2):c.2137G>C (p.Gly713Arg)	2068	ERCC2	Pathogenic	rs121913022	RCV000018276;	N	MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670	19	45855520	45855520	C	G	19:g.45855520C>G	ClinGen:CA126887,UniProtKB:P18074#VAR_008199,OMIM:126340.0008	C1866504 601675 Trichothiodystrophy 1, photosensitive;
NM_000400.4(ERCC2):c.2133C>T (p.Asp711=)	2068	ERCC2	Benign	rs1052555	RCV000249244\|RCV000334441\|RCV001514551\|RCV001658170\|RCV001658171;	N	MedGen:CN169374\|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730\|MedGen:CN517202\|MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756\|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670	19	45855524	45855524	G	A	19:g.45855524G>A	ClinGen:CA9512874	CN169374 not specified;
NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp)	2068	ERCC2	Pathogenic/Likely pathogenic	rs41556519	RCV000018284\|RCV000518900\|RCV000623275\|RCV000763053;	N	MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670; MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756; MONDO:MONDO:0010212,MedGen:C0268138,	19	45855610	45855610	G	A	19:g.45855610G>A	ClinGen:CA257630,UniProtKB:P18074#VAR_008198,OMIM:126340.0015	C0950123 Inborn genetic diseases;
NM_000400.4(ERCC2):c.1972C>T (p.Arg658Cys)	2068	ERCC2	Pathogenic	rs121913021	RCV000018275;	N	MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670	19	45855838	45855838	G	A	19:g.45855838G>A	ClinGen:CA126885,UniProtKB:P18074#VAR_008194,OMIM:126340.0007	C1866504 601675 Trichothiodystrophy 1, photosensitive;
NM_000400.4(ERCC2):c.1972C>G (p.Arg658Gly)	2068	ERCC2	Likely pathogenic	-1	RCV001799560;	N	MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730; MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670	19	45855838	45855838	G	C	45855838	-
NM_000400.4(ERCC2):c.1958C>T (p.Thr653Ile)	2068	ERCC2	Uncertain significance	-1	RCV001788953\|RCV002034629;	N	MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670\|MedGen:CN517202	19	45855852	45855852	G	A	45855852	-
NM_000400.4(ERCC2):c.1887G>C (p.Gln629His)	2068	ERCC2	Uncertain significance	rs200665173	RCV000120771\|RCV000662070\|RCV000662071\|RCV000662069\|RCV000764209\|RCV001329853\|RCV001854613;	N	MedGen:CN169374\|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670\|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730\|MONDO:MONDO:0008955,MedGen:C0220722,OMIM:214150\|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730; MONDO:MONDO:00111	19	45856019	45856019	C	G	19:g.45856019C>G	ClinGen:CA158764	C0220722 214150 Cerebro-oculo-facio-skeletal syndrome;
NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro)	2068	ERCC2	Pathogenic	rs376556895	RCV000312948\|RCV000489442\|RCV000763054\|RCV001195426;	N	MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730\|MedGen:CN517202\|MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756; MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730; MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670\|MONDO:MONDO:00196	19	45856059	45856059	C	G	NC_000019.9:g.45856059C>G	ClinGen:CA9513025,UniProtKB:P18074#VAR_003626	C1853102 610756 Cerebrooculofacioskeletal syndrome 2;
NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln)	2068	ERCC2	Uncertain significance	rs376556895	RCV001292729\|RCV001780237;	N	MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670\|MedGen:CN517202	19	45856059	45856059	C	T	45856059	-
NM_000400.4(ERCC2):c.1843G>A (p.Gly615Arg)	2068	ERCC2	Uncertain significance	-1	RCV001788967;	N	MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670	19	45856063	45856063	C	T	45856063	-
NM_000400.4(ERCC2):c.1832T>C (p.Val611Ala)	2068	ERCC2	Uncertain significance	rs759116129	RCV001131685\|RCV001292642;	N	MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730\|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670	19	45856074	45856074	A	G	19:g.45856074A>G	-
NM_000400.4(ERCC2):c.1832-3C>G	2068	ERCC2	Uncertain significance	rs1971859134	RCV001292783\|RCV001863173;	N	MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670\|MedGen:CN517202	19	45856077	45856077	G	C	45856077	-
NM_000400.4(ERCC2):c.1758+32C>G	2068	ERCC2	Benign	rs238417	RCV000253904\|RCV001658167\|RCV001658169\|RCV001682974\|RCV001658168;	N	MedGen:CN169374\|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730\|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670\|MedGen:CN517202\|MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756	19	45856468	45856468	G	C	19:g.45856468G>C	ClinGen:CA9513108	CN169374 not specified;
NM_000400.4(ERCC2):c.1425_1426insAAGATCCTGGA (p.Val476fs)	2068	ERCC2	Uncertain significance	rs1972045362	RCV001294170;	N	MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670	19	45860581	45860582	C	CTCCAGGATCTT	45860581	-
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val)	2068	ERCC2	Conflicting interpretations of pathogenicity	rs121913016	RCV000018267\|RCV000120764\|RCV000171546\|RCV000897210;	N	MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730\|MedGen:CN169374\|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670\|MedGen:CN517202	19	45860626	45860626	G	C	19:g.45860626G>C	ClinGen:CA158746,UniProtKB:P18074#VAR_003623,OMIM:126340.0001	CN169374 not specified;
NM_000400.4(ERCC2):c.1339G>A (p.Val447Ile)	2068	ERCC2	Conflicting interpretations of pathogenicity	rs141457460	RCV001136105\|RCV001294169;	N	MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730\|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670	19	45860770	45860770	C	T	19:g.45860770C>T	-
NM_000400.4(ERCC2):c.1238-1192G>A	2068	ERCC2	Uncertain significance	rs180850149	RCV001292819;	N	MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670	19	45862149	45862149	C	T	45862149	-
NM_000400.4(ERCC2):c.1119-85G>A	2068	ERCC2	Uncertain significance	rs148028467	RCV001292605;	N	MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670	19	45864985	45864985	C	T	45864985	-
NM_000400.4(ERCC2):c.1118+4C>T	2068	ERCC2	Uncertain significance	-1	RCV001834549;	N	MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670	19	45866997	45866997	G	A	45866997	-
NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn)	2068	ERCC2	Benign/Likely benign	rs1799793	RCV000120789\|RCV000990231\|RCV001514552\|RCV001657759\|RCV001657760;	N	MedGen:CN169374\|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730\|MedGen:CN517202\|MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756\|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670	19	45867259	45867259	C	T	19:g.45867259C>T	ClinGen:CA158818,UniProtKB:P18074#VAR_011414	CN169374 not specified;
NM_000400.4(ERCC2):c.679C>T (p.Arg227Cys)	2068	ERCC2	Uncertain significance	rs137910235	RCV000120788\|RCV000224777\|RCV001262008\|RCV001294173;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756\|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670	19	45867721	45867721	G	A	19:g.45867721G>A	ClinGen:CA158815	CN517202 not provided;
NM_000400.4(ERCC2):c.595-10G>A	2068	ERCC2	Uncertain significance	rs761737358	RCV001331198\|RCV001871815;	N	MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670\|MedGen:CN517202	19	45867815	45867815	C	T	45867815	-
NM_000400.4(ERCC2):c.594+2_594+5del	2068	ERCC2	Pathogenic/Likely pathogenic	rs762309206	RCV000454337\|RCV000454224\|RCV000599593;	N	MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670\|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730\|MedGen:CN517202	19	45868091	45868094	CCTCA	C	19:g.45868091_45868094del	ClinGen:CA9513732	CN517202 not provided;
NM_000400.4(ERCC2):c.553C>T (p.Arg185Trp)	2068	ERCC2	Uncertain significance	rs139884931	RCV001294172\|RCV001863180;	N	MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670\|MedGen:CN517202	19	45868137	45868137	G	A	45868137	-
NM_000400.4(ERCC2):c.491A>G (p.His164Arg)	2068	ERCC2	Uncertain significance	-1	RCV001788959;	N	MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670	19	45868199	45868199	T	C	45868199	-
NM_000400.4(ERCC2):c.468A>C (p.Arg156=)	2068	ERCC2	Benign	rs238406	RCV000242247\|RCV000323397\|RCV001658176\|RCV001514553\|RCV001658175;	N	MedGen:CN169374\|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730\|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670\|MedGen:CN517202\|MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756	19	45868309	45868309	T	G	19:g.45868309T>G	ClinGen:CA9513781	CN169374 not specified;
NM_000400.4(ERCC2):c.335G>A (p.Arg112His)	2068	ERCC2	Pathogenic	rs121913020	RCV000018273\|RCV000018274\|RCV000424822;	N	MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670\|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730\|MedGen:CN517202	19	45871913	45871913	C	T	19:g.45871913C>T	ClinGen:CA126883,UniProtKB:P18074#VAR_003622,OMIM:126340.0006	CN517202 not provided;
NM_000400.4(ERCC2):c.334C>T (p.Arg112Cys)	2068	ERCC2	Likely pathogenic	rs760820378	RCV001329857;	N	MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670	19	45871914	45871914	G	A	45871914	-
NM_000400.4(ERCC2):c.247-35G>A	2068	ERCC2	Benign	rs1799783	RCV000250105\|RCV001618382\|RCV001658172\|RCV001658174\|RCV001658173;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730\|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670\|MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756	19	45872036	45872036	C	T	19:g.45872036C>T	ClinGen:CA9513854	CN169374 not specified;
NM_000400.4(ERCC2):c.47A>G (p.Tyr16Cys)	2068	ERCC2	Conflicting interpretations of pathogenicity	rs147972150	RCV000120770\|RCV000893772\|RCV001292799\|RCV001136196\|RCV001329858;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670\|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730\|MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756	19	45873449	45873449	T	C	19:g.45873449T>C	ClinGen:CA158761	CN169374 not specified;
NM_138701.4(MPLKIP):c.505dup (p.Thr169fs)	136647	MPLKIP	Pathogenic	rs768342562	RCV000202381;	N	MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670	7	40172692	40172693	G	GT	7:g.40172692_40172693insT	ClinGen:CA211162	C1866504 601675 Trichothiodystrophy 1, photosensitive;

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