MCID: WLL017

Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis malady

Genetic diseases (common) category

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

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48OMIM, 34MalaCards
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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:48 604379

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

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48OMIM
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Classifications:

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


Aliases & Descriptions:

woolly hair, autosomal recessive 2 with or without hypotrichosis 48


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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48OMIM
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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Variations for Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis:

65
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:

1
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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2BioGPS, 16Gene 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet