Newborn screening - OMIM - NCBI

Newborn screening - OMIM - NCBI



From NIH OMIM

OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily.

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• Search OMIM for "Newborn screening" 

1.

#242300 - ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1; ARCI1

Cytogenetic locations: 14q12

OMIM:

 

242300

Gene summaries Genetic tests Medical literature

Select item 6175962.

#617596 - MALEYLACETOACETATE ISOMERASE DEFICIENCY; MAAID

Cytogenetic locations: 14q24.3

OMIM:

 

617596

Gene summaries Genetic tests Medical literature

Select item 2509503.

#250950 - 3-@METHYLGLUTACONIC ACIDURIA, TYPE I; MGCA1

Cytogenetic locations: 9q22.31

OMIM:

 

250950

Gene summaries Genetic tests Medical literature

Select item 6099244.

#609924 - AMINOACYLASE 1 DEFICIENCY; ACY1D

Cytogenetic locations: 3p21.2

OMIM:

 

609924

Gene summaries Genetic tests Medical literature

Select item 1201205.

*120120 - COLLAGEN, TYPE VII, ALPHA-1; COL7A1

Cytogenetic locations: 3p21.31

OMIM:

 

120120

Gene summaries Genetic tests Medical literature

Select item 6169696.

#616969 - DEAFNESS, AUTOSOMAL DOMINANT 66; DFNA66

Cytogenetic locations: 6q21

OMIM:

 

616969

Gene summaries Genetic tests Medical literature

Select item 2227487.

#222748 - DIHYDROPYRIMIDINASE DEFICIENCY; DPYSD

Cytogenetic locations: 8q22.3

OMIM:

 

222748

Gene summaries Genetic tests Medical literature

Select item 2752008.

#275200 - HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1

Cytogenetic locations: 14q31.1

OMIM:

 

275200

Gene summaries Genetic tests Medical literature

Select item 2197009.

#219700 - CYSTIC FIBROSIS; CF

Cytogenetic locations: 19q13.2, 1pter-p36.13, 1q23.3

OMIM:

 

219700

Gene summaries Genetic tests Medical literature

Select item 30830010.

#308300 - INCONTINENTIA PIGMENTI; IP

Cytogenetic locations: Xq28

OMIM:

 

308300

Gene summaries Genetic tests Medical literature

Select item 30954811.

#309548 - MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXE

Cytogenetic locations: Xq28

OMIM:

 

309548

Gene summaries Genetic tests Medical literature

Select item 22011112.

#220111 - LEIGH SYNDROME, FRENCH CANADIAN TYPE; LSFC

Cytogenetic locations: 2p21

OMIM:

 

220111

Gene summaries Genetic tests Medical literature

Select item 27400013.

#274000 - THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR

Cytogenetic locations: 1q21.1

OMIM:

 

274000

Gene summaries Genetic tests Medical literature

Select item 60901914.

*609019 - BIOTINIDASE; BTD

Cytogenetic locations: 3p25.1

OMIM:

 

609019

Gene summaries Genetic tests Medical literature

Select item 30510015.

#305100 - ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; XHED

Cytogenetic locations: Xq13.1

OMIM:

 

305100

Gene summaries Genetic tests Medical literature

Select item 21020016.

#210200 - 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY; MCC1D

Cytogenetic locations: 3q27.1

OMIM:

 

210200

Gene summaries Genetic tests Medical literature

Select item 24860017.

#248600 - MAPLE SYRUP URINE DISEASE; MSUD

MAPLE SYRUP URINE DISEASE, CLASSIC, INCLUDED

Cytogenetic locations: 6q14.1, 1pter-p36.13, 19q13.2

OMIM:

 

248600

Gene summaries Genetic tests Medical literature

Select item 60052918.

*600529 - AU-SPECIFIC RNA-BINDING PROTEIN; AUH

Cytogenetic locations: 9q22.31

OMIM:

 

600529

Gene summaries Genetic tests Medical literature

Select item 60647519.

*606475 - CD320 ANTIGEN; CD320

Cytogenetic locations: 19p13.2

OMIM:

 

606475

Gene summaries Genetic tests Medical literature

Select item 60337720.

*603377 - SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 5; SLC22A5

Cytogenetic locations: 5q31.1

OMIM:

 

603377

Gene summaries Genetic tests Medical literature