Undiagnosed diseases - OMIM - NCBI

Undiagnosed diseases - 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 "Undiagnosed diseases" 

188455 - THYROGLOSSAL DUCT CYST, FAMILIAL

OMIM:

 

188455

Gene summaries Genetic tests Medical literature

Select item 1739002.

#173900 - POLYCYSTIC KIDNEY DISEASE 1 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD1

Cytogenetic locations: 16p13.3

OMIM:

 

173900

Gene summaries Genetic tests Medical literature

Select item 1063003.

#106300 - SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1

Cytogenetic locations: 6p21.33

OMIM:

 

106300

Gene summaries Genetic tests Medical literature

Select item 6141684.

*614168 - PHOSPHOENOLPYRUVATE CARBOXYKINASE 1, SOLUBLE; PCK1

Cytogenetic locations: 20q13.31

OMIM:

 

614168

Gene summaries Genetic tests Medical literature

Select item 2616005.

#261600 - PHENYLKETONURIA; PKU

HYPERPHENYLALANINEMIA, NON-PKU MILD, INCLUDED

Cytogenetic locations: 12q23.2

OMIM:

 

261600

Gene summaries Genetic tests Medical literature

Select item 6142966.

#614296 - WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT; WFSL

Cytogenetic locations: 4p16.1

OMIM:

 

614296

Gene summaries Genetic tests Medical literature

Select item 3094007.

#309400 - MENKES DISEASE

Cytogenetic locations: Xq21.1

OMIM:

 

309400

Gene summaries Genetic tests Medical literature

Select item 1808608.

#180860 - SILVER-RUSSELL SYNDROME; SRS

Cytogenetic locations: 1pter-p36.13, 7p11.2

OMIM:

 

180860

Gene summaries Genetic tests Medical literature

Select item 1073009.

*107300 - SERPIN PEPTIDASE INHIBITOR, CLADE C (ANTITHROMBIN), MEMBER 1; SERPINC1

Cytogenetic locations: 1q25.1

OMIM:

 

107300

Gene summaries Genetic tests Medical literature

Select item 17627010.

#176270 - PRADER-WILLI SYNDROME; PWS

PRADER-WILLI SYNDROME CHROMOSOME REGION, INCLUDED; PWCR, INCLUDED

Cytogenetic locations: 1pter-p36.13, 15q11.2

OMIM:

 

176270

Gene summaries Genetic tests Medical literature

Select item 24060011.

#240600 - GLYCOGEN STORAGE DISEASE 0, LIVER; GSD0A

Cytogenetic locations: 12p12.1

OMIM:

 

240600

Gene summaries Genetic tests Medical literature

Select item 30055012.

*300550 - PHOSPHATE-REGULATING ENDOPEPTIDASE HOMOLOG, X-LINKED; PHEX

Cytogenetic locations: Xp22.11

OMIM:

 

300550

Gene summaries Genetic tests Medical literature

Select item 31125013.

#311250 - ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO

VALPROATE SENSITIVITY, INCLUDED

Cytogenetic locations: Xp11.4

OMIM:

 

311250

Gene summaries Genetic tests Medical literature

Select item 30150014.

#301500 - FABRY DISEASE

FABRY DISEASE, CARDIAC VARIANT, INCLUDED

Cytogenetic locations: Xq22.1

OMIM:

 

301500

Gene summaries Genetic tests Medical literature

Select item 61771115.

#617711 - EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1; IECEE1

Cytogenetic locations: 4q24

OMIM:

 

617711

Gene summaries Genetic tests Medical literature

Select item 61714016.

#617140 - ZTTK SYNDROME; ZTTKS

Cytogenetic locations: 21q22.11

OMIM:

 

617140

Gene summaries Genetic tests Medical literature

Select item 10731017.

*107310 - SOLUTE CARRIER FAMILY 9, MEMBER 1; SLC9A1

Cytogenetic locations: 1p36.11

OMIM:

 

107310

Gene summaries Genetic tests Medical literature

Select item 30935018.

#309350 - MELNICK-NEEDLES SYNDROME; MNS

Cytogenetic locations: Xq28

OMIM:

 

309350

Gene summaries Genetic tests Medical literature

Select item 18246519.

*182465 - SON DNA-BINDING PROTEIN; SON

Cytogenetic locations: 21q22.11

OMIM:

 

182465

Gene summaries Genetic tests Medical literature

Select item 11410520.

*114105 - PROTEIN PHOSPHATASE 3, CATALYTIC SUBUNIT, ALPHA ISOFORM; PPP3CA

Cytogenetic locations: 4q24

OMIM:

 

114105

Gene summaries Genetic tests Medical literature