Rare diseases - OMIM - NCBI

Rare 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 "Rare diseases" 

#300166 - MICROPHTHALMIA, SYNDROMIC 2; MCOPS2

Cytogenetic locations: Xp11.4

OMIM:

 

300166

Gene summaries Genetic tests Medical literature

Select item 6027822.

#602782 - HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME

Cytogenetic locations: 1pter-p36.13, 10q22.1

OMIM:

 

602782

Gene summaries Genetic tests Medical literature

Select item 2684003.

#268400 - ROTHMUND-THOMSON SYNDROME; RTS

Cytogenetic locations: 8q24.3

OMIM:

 

268400

Gene summaries Genetic tests Medical literature

Select item 6134904.

#613490 - ALPHA-1-ANTITRYPSIN DEFICIENCY; A1ATD

Cytogenetic locations: 14q32.13

OMIM:

 

613490

Gene summaries Genetic tests Medical literature

Select item 6148005.

#614800 - SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY; SOPH

Cytogenetic locations: 2p24.3

OMIM:

 

614800

Gene summaries Genetic tests Medical literature

Select item 6166516.

#616651 - ROIFMAN SYNDROME; RFMN

Cytogenetic locations: 2q14.2

OMIM:

 

616651

Gene summaries Genetic tests Medical literature

Select item 1392107.

#139210 - MYHRE SYNDROME; MYHRS

Cytogenetic locations: 18q21.2

OMIM:

 

139210

Gene summaries Genetic tests Medical literature

Select item 1203308.

#120330 - PAPILLORENAL SYNDROME; PAPRS

Cytogenetic locations: 10q24.31

OMIM:

 

120330

Gene summaries Genetic tests Medical literature

Select item 6127409.

#612740 - PORPHYRIA, ACUTE HEPATIC

LEAD POISONING, SUSCEPTIBILITY TO, INCLUDED

Cytogenetic locations: 9q32

OMIM:

 

612740

Gene summaries Genetic tests Medical literature

Select item 26370010.

#263700 - PORPHYRIA, CONGENITAL ERYTHROPOIETIC

Cytogenetic locations: 10q26.2

OMIM:

 

263700

Gene summaries Genetic tests Medical literature

Select item 60919211.

#609192 - LOEYS-DIETZ SYNDROME 1; LDS1

Cytogenetic locations: 9q22.33

OMIM:

 

609192

Gene summaries Genetic tests Medical literature

Select item 61723612.

#617236 - CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL

Cytogenetic locations: 9q21.2

OMIM:

 

617236

Gene summaries Genetic tests Medical literature

Select item 25120013.

#251200 - MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE; MCPH1

Cytogenetic locations: 8p23.1

OMIM:

 

251200

Gene summaries Genetic tests Medical literature

Select item 60100514.

#601005 - TIMOTHY SYNDROME; TS

Cytogenetic locations: 12p13.33

OMIM:

 

601005

Gene summaries Genetic tests Medical literature

Select item 25380015.

#253800 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4

Cytogenetic locations: 9q31.2

OMIM:

 

253800

Gene summaries Genetic tests Medical literature

Select item 16195016.

%161950 - IgA NEPHROPATHY, SUSCEPTIBILITY TO, 1; IGAN1

Cytogenetic locations: 6q22-q23

OMIM:

 

161950

Gene summaries Genetic tests Medical literature

Select item 16450017.

#164500 - SPINOCEREBELLAR ATAXIA 7; SCA7

Cytogenetic locations: 3p14.1

OMIM:

 

164500

Gene summaries Genetic tests Medical literature

Select item 31070018.

#310700 - NYSTAGMUS 1, CONGENITAL, X-LINKED; NYS1

NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED, INCLUDED; XIPAN, INCLUDED

Cytogenetic locations: Xq26.2

OMIM:

 

310700

Gene summaries Genetic tests Medical literature

Select item 61325419.

#613254 - TUBEROUS SCLEROSIS 2; TSC2

TSC2 ANGIOMYOLIPOMAS, RENAL, MODIFIER OF, INCLUDED

Cytogenetic locations: 1pter-p36.13, 12q15

OMIM:

 

613254

Gene summaries Genetic tests Medical literature

Select item 18309020.

#183090 - SPINOCEREBELLAR ATAXIA 2; SCA2

AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13, INCLUDED; ALS13, INCLUDED

Cytogenetic locations: 12q24.12

OMIM:

 

183090

Gene summaries Genetic tests Medical literature