MCID: WLL017

Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis malady

Genetic diseases (common) category
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Summaries for Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis

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MalaCards based summary: 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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Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis, Aliases & Descriptions:

Name: Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis 46


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


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

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

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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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Drug clinical trials:

Search ClinicalTrials for Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis

Search NIH Clinical Center for Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis

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

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

64
id Symbol AA change Variation ID SNP ID
1LIPHp.Trp108ArgVAR_059050
2LIPHp.Trp108ArgVAR_059050

Clinvar genetic disease variations for Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis:

6
id Gene Name Type Significance SNP ID Assembly Location
1LIPHLIPH, EX4 DELdeletionPathogenic
2LIPHLIPH, 5-BP DEL, NT346deletionPathogenic
3LIPHLIPH, 2-BP DEL, 659TAdeletionPathogenic
4LIPHLIPH, EXONS 7-8 DELdeletionPathogenic

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

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Expression patterns in normal tissues for genes affiliated with Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis

Search GEO for disease gene expression data for Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis.

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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet