MCID: WLL017

Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis malady

Summaries for Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis

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46OMIM, 32MalaCards
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MalaCards: Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis An important gene associated with Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis is LIPH (lipase, member H).

Description from OMIM:46 604379

Aliases & Classifications for Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis

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46OMIM
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Aliases & Descriptions:

woolly hair, autosomal recessive 2 with or without hypotrichosis 46


Related Diseases for Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis

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Clinical Features for Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis

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46OMIM
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Clinical features from OMIM:

604379

Drugs & Therapeutics for Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis

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Anatomical Context for Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis

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Animal Models for Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis or affiliated genes

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Publications for Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis

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Genetic Variations for Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis:

62
id Symbol AA change Variation ID SNP ID
1LIPHp.Trp108ArgVAR_059050
2LIPHp.Trp108ArgVAR_059050

Expression for genes affiliated with Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis

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Pathways for genes affiliated with Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis

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Compounds for genes affiliated with Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis

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GO Terms for genes affiliated with Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis

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Products for genes affiliated with Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet