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DNA (29350)
LCL (20776)
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iPSC (265)
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human variation panel (2)
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hybrid mapping panel (1)
hybrid regional mapping panel (1)

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B-Lymphocyte (20862)
LCL (16624)
Whole Blood (9348)
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Skin, Arm (1072)
Skin, Unspecified (496)
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NINDS Repository (23513)
NIGMS Human Genetic Cell Repository (18491)
NHGRI Sample Repository for Human Genetic Research (7452)
NIA Aging Cell Culture Repository (4251)
AREDS2 (1889)
Autism (358)
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Vietnamese (3)

Affected:

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Yes (31295)
No (9107)
Unknown (3170)
At Risk (1959)

Mutation Data Available:

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Y (6144)
No (4)

Age at Sampling (Years):

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0-4 (3765)
5-14 (4699)
15-24 (3951)
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Heritable Diseases (11885)
Parkinsonism (8425)
NHGRI Sample Repository for Human Genetic Research (7452)
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"Intra-abdominal fat and risk of disease in children and adolescents" study (258)
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Extended Clinical Data Available:

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Search Results for - ECTODERMAL DYSPLASIA 1, ANHIDROTIC

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Description

Product

Source

(Showing Items: 50)

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GM15879

ECTODERMAL DYSPLASIA 1, ANHIDROTIC; ED1 | TRANSLOCATED CHROMOSOME

LCL

B-Lymphocyte

View

GM26597

CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG | N-GLYCANASE 1; NGLY1

LCL

B-Lymphocyte

View

GM26596

CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG | N-GLYCANASE 1; NGLY1

Fibroblast

Skin, Arm

View

GM26595

CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG | N-GLYCANASE 1; NGLY1

LCL

B-Lymphocyte

View

NA26595

CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG | N-GLYCANASE 1; NGLY1

DNA

LCL

View

NA17934

ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE

DNA

LCL

View

GM17934

ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE

LCL

B-Lymphocyte

View

GM15903

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1

LCL

B-Lymphocyte

View

GM14818

CLEFT LIP/PALATE - ECTODERMAL DYSPLASIA SYNDROME; CLPED1 | POLIOVIRUS RECEPTOR-LIKE 1; PVRL1

Fibroblast

View

GM14817

CLEFT LIP/PALATE - ECTODERMAL DYSPLASIA SYNDROME; CLPED1 | POLIOVIRUS RECEPTOR-LIKE 1; PVRL1

LCL

B-Lymphocyte

View

GM10981

MARSHALL SYNDROME

Fibroblast

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NA10980

MARSHALL SYNDROME

DNA

LCL

View

GM10980

MARSHALL SYNDROME

LCL

B-Lymphocyte

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GM10982

MARSHALL SYNDROME

LCL

B-Lymphocyte

View

GM10983

MARSHALL SYNDROME

LCL

B-Lymphocyte

View

GM13085

IMMUNOOSSEOUS DYSPLASIA

Fibroblast

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GM03127

PSEUDOACHONDROPLASTIC DYSPLASIA

Fibroblast

View

GM11505

VERTEBRAL ANOMALIES

LCL

B-Lymphocyte

View

GM11504

VERTEBRAL ANOMALIES

LCL

B-Lymphocyte

View

NA20738

SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS

DNA

LCL

View

GM20738

SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS

LCL

B-Lymphocyte

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GM13539

VERTEBRAL ANOMALIES

LCL

B-Lymphocyte

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GM04179

KNIEST DYSPLASIA

Fibroblast

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GM17897

CLEIDOCRANIAL DYSPLASIA; CCD

LCL

B-Lymphocyte

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GM08856

THANATOPHORIC DYSPLASIA; TD

Fibroblast

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GM17896

CLEIDOCRANIAL DYSPLASIA; CCD

LCL

B-Lymphocyte

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GM10224

THANATOPHORIC DYSPLASIA; TD

Fibroblast

View

GM04911

KNIEST DYSPLASIA

Fibroblast

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GM22519

CRANIOECTODERMAL DYSPLASIA

LCL

B-Lymphocyte

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GM17895

FRONTONASAL DYSPLASIA

LCL

B-Lymphocyte

View

GM03129

METAPHYSEAL DYSPLASIA, ANETODERMA, AND OPTIC ATROPHY

Fibroblast

Skin, Unspecified

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GM03130

METAPHYSEAL DYSPLASIA, ANETODERMA, AND OPTIC ATROPHY

Fibroblast

Skin, Unspecified

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GM12125

SPONASTRIME DYSPLASIA

LCL

B-Lymphocyte

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GM22520

CRANIOECTODERMAL DYSPLASIA

LCL

B-Lymphocyte

View

GM12221

SPONDYLOPERIPHERAL DYSPLASIA

LCL

B-Lymphocyte

View

GM11814

SPONASTRIME DYSPLASIA

LCL

B-Lymphocyte

View

NA11814

SPONASTRIME DYSPLASIA

DNA

LCL

View

NA10894

THANATOPHORIC DYSPLASIA; TD | APPARENTLY HEALTHY INDIVIDUAL

DNA

LCL

View

GM10894

THANATOPHORIC DYSPLASIA; TD | APPARENTLY HEALTHY INDIVIDUAL

LCL

B-Lymphocyte

View

NA10893

THANATOPHORIC DYSPLASIA; TD | APPARENTLY HEALTHY INDIVIDUAL

DNA

LCL

View

GM10893

THANATOPHORIC DYSPLASIA; TD | APPARENTLY HEALTHY INDIVIDUAL

LCL

B-Lymphocyte

View

GM12220

SPONDYLOPERIPHERAL DYSPLASIA

LCL

B-Lymphocyte

View

GM11592

VERTEBRAL ANOMALIES

LCL

B-Lymphocyte

View

GM09663

THANATOPHORIC DYSPLASIA WITH KLEEBLATTSCHAEDEL

Fibroblast

View

GM11503

VERTEBRAL ANOMALIES

LCL

B-Lymphocyte

View

GM14179

VERTEBRAL ANOMALIES

Fibroblast

View

GM21561

FIBROMUSCULAR DYSPLASIA OF ARTERIES

LCL

B-Lymphocyte

View

GM10628

THANATOPHORIC DYSPLASIA WITH KLEEBLATTSCHAEDEL

LCL

B-Lymphocyte

View

GM10627

THANATOPHORIC DYSPLASIA WITH KLEEBLATTSCHAEDEL

LCL

B-Lymphocyte

View

NA10490

ADRENAL HYPOPLASIA, CONGENITAL; AHC

DNA

LCL

No Results were Found

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