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LCL (26009)
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B-Lymphocyte (26094)
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NINDS Repository (26647)
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NHGRI Sample Repository for Human Genetic Research (7479)
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Autism (362)
HD Community Biorepository (50)
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No (14428)
Unknown (3173)
At Risk (2855)

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Y (6060)

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0-4 (3567)
5-14 (4162)
15-24 (3597)
25-34 (4516)
35-44 (5799)
45-54 (7141)
55-64 (7075)
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Heritable Diseases (11774)
NHGRI Sample Repository for Human Genetic Research (7479)
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Search Results for - HYPOADRENALISM WITH ACHALASIA

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Description
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Description

Product

Source

(Showing Items: 50)

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GM12123

ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAA | AAAS GENE; AAAS

Fibroblast

Muscle, Unspecified

View

GM28881

ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; AAMR | GDP-MANNOSE PYROPHOSPHORYLASE A; GMPPA

Fibroblast

Skin, Skin

View

GM28877

ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; AAMR | GDP-MANNOSE PYROPHOSPHORYLASE A; GMPPA

Fibroblast

Skin, Skin

View

GM28879

ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; AAMR | GDP-MANNOSE PYROPHOSPHORYLASE A; GMPPA

Fibroblast

Skin, Hip

View

GM28880

ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; AAMR | GDP-MANNOSE PYROPHOSPHORYLASE A; GMPPA

LCL

B-Lymphocyte

View

GM28882

ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; AAMR | GDP-MANNOSE PYROPHOSPHORYLASE A; GMPPA

LCL

B-Lymphocyte

View

GM13371

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG | EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5; ERCC5

Fibroblast

View

GM02046

MUCOLIPIDOSIS II; ML2; ML II | N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB

Fibroblast

View

GM23919

ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD

LCL

B-Lymphocyte

View

GM08768

ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM

Fibroblast

View

GM13370

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG | EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5; ERCC5

Fibroblast

View

GM04488

ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM

Fibroblast

View

GM07844

ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM

Fibroblast

View

GM07842

ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM

Fibroblast

View

GM23496

ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM

Fibroblast

Skin, Unspecified

View

GM05872

ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM

Fibroblast

View

GM05870

ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM

Fibroblast

View

GM13275

ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM

Fibroblast

View

GM06125

ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM

Fibroblast

View

NA28023

LEIGH SYNDROME; LS | MARFAN SYNDROME; MFS | SURFEIT 1; SURF1 | FIBRILLIN 1; FBN1

DNA

Fibroblast

View

GM21192

ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM

LCL

B-Lymphocyte

View

GM28023

LEIGH SYNDROME; LS | MARFAN SYNDROME; MFS | SURFEIT 1; SURF1 | FIBRILLIN 1; FBN1

Fibroblast

Skin, Skin

View

GM23495

ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM

LCL

B-Lymphocyte

View

GM07523

ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM

LCL

B-Lymphocyte

View

GM11292

ALBINISM, OCULOCUTANEOUS, TYPE 1A; OCA1A | TYROSINASE; TYR

LCL

B-Lymphocyte

View

GM08684

ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM

Fibroblast

View

GM02958

NEUROPATHY, CONGENITAL SENSORY, WITH ANHIDROSIS

Fibroblast

View

GM23621

DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA

Fibroblast

Skin, Unspecified

View

GM06225

KEARNS-SAYRE SYNDROME; KSS

Fibroblast

View

GM04939

TRIPLOID CHROMOSOME NUMBER

Fibroblast

View

NA00028

MYOPATHY WITH GIANT ABNORMAL MITOCHONDRIA

DNA

Fibroblast

View

ND00097

ASYMPTOMATIC OR UNDIAGNOSED AND GENETICALLY RELATED TO AN AFFECTED INDIVIDUAL

DNA

LCL

View

ND00097

ASYMPTOMATIC OR UNDIAGNOSED AND GENETICALLY RELATED TO AN AFFECTED INDIVIDUAL

LCL

B-Lymphocyte

View

GM00028

MYOPATHY WITH GIANT ABNORMAL MITOCHONDRIA

Fibroblast

View

GM27972

INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD | VALOSIN-CONTAINING PROTEIN; VCP

Fibroblast

View

NA08385

NEUROPATHY, CONGENITAL SENSORY, WITH ANHIDROSIS | NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1; NTRK1

DNA

LCL

View

GM09965

ADRENAL HYPOPLASIA, CONGENITAL; AHC

Fibroblast

View

GM09663

THANATOPHORIC DYSPLASIA WITH KLEEBLATTSCHAEDEL

Fibroblast

View

NA08384

NEUROPATHY, CONGENITAL SENSORY, WITH ANHIDROSIS | NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1; NTRK1

DNA

LCL

View

NA06224

KEARNS-SAYRE SYNDROME; KSS

DNA

LCL

View

GM13585

COLORECTAL CANCER, FAMILIAL

LCL

B-Lymphocyte

View

NA14760

POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II, MAJEWSKI TYPE

DNA

Chorionic villus-derived cell line

View

GM16650

TRICHOTHIODYSTROPHY; TTD ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION, INCLUDED

Fibroblast

View

AG22160

NON WOUND HEALING PHENOTYPE

Fibroblast

Skin, Toe

View

GM22238

INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD

Fibroblast

Skin, Thigh

View

GM22246

INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD

Fibroblast

Skin, Thigh

View

NA22246

INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD

DNA

Fibroblast

View

GM22744

INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD

Fibroblast

Skin, Thigh

View

GM22757

INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD

Fibroblast

Skin, Thigh

View

GM16648

TRICHOTHIODYSTROPHY; TTD ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION, INCLUDED

Fibroblast

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