Primary care - OMIM - NCBI

Primary care - 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 "Primary care" 

#614852 - MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE; MCPH9

Cytogenetic locations: 15q21.1

OMIM:

 

614852

Gene summaries Genetic tests Medical literature

Select item 1786002.

#178600 - PULMONARY HYPERTENSION, PRIMARY, 1; PPH1

PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED, INCLUDED

Cytogenetic locations: 2q33.1-q33.2

OMIM:

 

178600

Gene summaries Genetic tests Medical literature

Select item 1061803.

+106180 - ANGIOTENSIN I-CONVERTING ENZYME; ACE

ANGIOTENSIN I-CONVERTING ENZYME, PLASMA LEVEL OF, INCLUDED

Cytogenetic locations: 17q23.3

OMIM:

 

106180

Gene summaries Genetic tests Medical literature

Select item 1516234.

#151623 - LI-FRAUMENI SYNDROME; LFS

LI-FRAUMENI-LIKE SYNDROME, INCLUDED; LFL, INCLUDED

Cytogenetic locations: 17p13.1

OMIM:

 

151623

Gene summaries Genetic tests Medical literature

Select item 1924305.

#192430 - VELOCARDIOFACIAL SYNDROME

Cytogenetic locations: 22q11.21

OMIM:

 

192430

Gene summaries Genetic tests Medical literature

Select item 6149626.

#614962 - LEPTIN DEFICIENCY OR DYSFUNCTION; LEPD

Cytogenetic locations: 7q32.1

OMIM:

 

614962

Gene summaries Genetic tests Medical literature

Select item 6090297.

#609029 - EMANUEL SYNDROME

Cytogenetic locations: 22q11.2

OMIM:

 

609029

Gene summaries Genetic tests Medical literature

Select item 6011998.

+601199 - CALCIUM-SENSING RECEPTOR; CASR

HYPERCALCIURIC HYPERCALCEMIA, INCLUDED

Cytogenetic locations: 3q13.3-q21.1

OMIM:

 

601199

Gene summaries Genetic tests Medical literature

Select item 1802009.

#180200 - RETINOBLASTOMA; RB1

Cytogenetic locations: 13q14.2

OMIM:

 

180200

Gene summaries Genetic tests Medical literature

Select item 23520010.

#235200 - HEMOCHROMATOSIS, TYPE 1; HFE1

Cytogenetic locations: 1pter-p36.13, 20p12.3

OMIM:

 

235200

Gene summaries Genetic tests Medical literature

Select item 17510011.

#175100 - FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1

GARDNER SYNDROME, INCLUDED; GS, INCLUDED

Cytogenetic locations: 5q22.2

OMIM:

 

175100

Gene summaries Genetic tests Medical literature

Select item 19405012.

#194050 - WILLIAMS-BEUREN SYNDROME; WBS

Cytogenetic locations: 7q11.23

OMIM:

 

194050

Gene summaries Genetic tests Medical literature

Select item 14310013.

#143100 - HUNTINGTON DISEASE; HD

Cytogenetic locations: 4p16.3

OMIM:

 

143100

Gene summaries Genetic tests Medical literature

Select item 61626914.

#616269 - MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48; MRT48

Cytogenetic locations: 1p13.3

OMIM:

 

616269

Gene summaries Genetic tests Medical literature

Select item 10453015.

#104530 - AMELOGENESIS IMPERFECTA, TYPE IA; AI1A

Cytogenetic locations: 1q32.2

OMIM:

 

104530

Gene summaries Genetic tests Medical literature

Select item 16676016.

%166760 - OTITIS MEDIA, SUSCEPTIBILITY TO

Cytogenetic locations: 10q26.3

OMIM:

 

166760

Gene summaries Genetic tests Medical literature

Select item 18730017.

#187300 - TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1

Cytogenetic locations: 9q34.11

OMIM:

 

187300

Gene summaries Genetic tests Medical literature

Select item 60538418.

*605384 - INTERLEUKIN 21; IL21

Cytogenetic locations: 4q27

OMIM:

 

605384

Gene summaries Genetic tests Medical literature

Select item 21275019.

#212750 - CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1

Cytogenetic locations: 1pter-p36.13, 6p21.32

OMIM:

 

212750

Gene summaries Genetic tests Medical literature

Select item 61684320.

#616843 - LYMPHEDEMA, HEREDITARY, III; LMPH3

Cytogenetic locations: 16q24.3

OMIM:

 

616843

Gene summaries Genetic tests Medical literature