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HYPT7
MCID: HYP575
MIFTS: 46

Hypotrichosis 7 (HYPT7)

Categories: Eye diseases, Genetic diseases, Oral diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Hypotrichosis 7

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MalaCards integrated aliases for Hypotrichosis 7:

Name: Hypotrichosis 7 56 12 73 29 6 15
Woolly Hair, Autosomal Recessive 2, with or Without Hypotrichosis 29 6 17 71
Total Hypotrichosis, Mari Type 52 25 39 71
Hypotrichosis, Localized, Autosomal Recessive 2 56 12 13
Hypt7 56 12 73
Lah2 56 12 73
Ah 56 25 73
Wh/ht 73 71
Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis 56
Woolly Hair Autosomal Recessive 2 with or Without Hypotrichosis 73
Autosomal Recessive Woolly Hair with or Without Hypotrichosis 25
Hypotrichosis, Localized, Autosomal Recessive 2; Lah2 56
Hypotrichosis Localized Autosomal Recessive 2 73
Autosomal Recessive Localized Hypotrichosis 25
Alopecia Universalis Congenita, Mari Type 52
Mari Type Alopecia Universalis Congenita 52
Alopecia Universalis Congenita Mari Type 73
Hypotrichosis, Autosomal Recessive; Ah 56
Hypotrichosis, Autosomal Recessive 56
Autosomal Recessive Hypotrichosis 25
Hypotrichosis Autosomal Recessive 73
Woolly Hair Autosomal Recessive 2 73
Hypotrichosis, Total, Mari Type 56
Total Mari Type Hypotrichosis, 12
Total Hypotrichosis Mari Type 73
Hypotrichosis 25
Hypotrichoses 25
Arwh2 73
Lah 25
Htl 25

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype ranging from woolly to sparse hair, even within a single family


HPO:

31
hypotrichosis 7:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases Oral diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:0110704
OMIM 56 604379
OMIM Phenotypic Series 56 PS605389
UMLS 71 C1836672 C3148823 C3148824
Sources

Summaries for Hypotrichosis 7

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Genetics Home Reference : 25 Autosomal recessive hypotrichosis is a condition that affects hair growth. People with this condition have sparse hair (hypotrichosis) on the scalp beginning in infancy. This hair is usually coarse, dry, and tightly curled (often described as woolly hair). Scalp hair may also be lighter in color than expected and is fragile and easily broken. Affected individuals often cannot grow hair longer than a few inches. The eyebrows, eyelashes, and other body hair may be sparse as well. Over time, the hair problems can remain stable or progress to complete scalp hair loss (alopecia) and a decrease in body hair. Rarely, people with autosomal recessive hypotrichosis have skin problems affecting areas with sparse hair, such as redness (erythema), itchiness (pruritus), or missing patches of skin (erosions) on the scalp. In areas of poor hair growth, they may also develop bumps called hyperkeratotic follicular papules that develop around hair follicles, which are specialized structures in the skin where hair growth occurs.

MalaCards based summary : Hypotrichosis 7, also known as woolly hair, autosomal recessive 2, with or without hypotrichosis, is related to hypotrichosis 3 and hypotrichosis 11. An important gene associated with Hypotrichosis 7 is LIPH (Lipase H), and among its related pathways/superpathways is Keratinization. The drugs Minoxidil and Bimatoprost have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and eye, and related phenotypes are woolly hair and hypotrichosis

Disease Ontology : 12 A hypotrichosis that has material basis in a autosomal recessive mutation of LIPH on chromosome 3q27.2.

UniProtKB/Swiss-Prot : 73 Hypotrichosis 7: A condition characterized by the presence of less than the normal amount of hair. Affected individuals have sparse or absent scalp, axillary and body hair and sparse eyebrows and eyelashes.
Woolly hair autosomal recessive 2: A hair shaft disorder characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, woolly hair grows slowly and stops growing after a few inches. Under light microscopy, woolly hair shows some structural anomalies, including trichorrhexis nodosa and tapered ends. Some individuals may present with hypotrichosis.

More information from OMIM: 604379 PS605389
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Related Diseases for Hypotrichosis 7

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Diseases in the Hypotrichosis family:

Hypotrichosis 2 Hypotrichosis 4
Hypotrichosis 8 Hypotrichosis 7
Hypotrichosis 1 Hypotrichosis 6
Hypotrichosis 5 Hypotrichosis 3
Hypotrichosis 9 Hypotrichosis 10
Hypotrichosis 11 Hypotrichosis 12
Hypotrichosis 13 Hypotrichosis 14

Diseases related to Hypotrichosis 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 270)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis 3 33.6 LPAR6 LIPH KRT74
2 hypotrichosis 11 33.6 LPAR6 LIPH KRT74
3 hypotrichosis, congenital, with juvenile macular dystrophy 33.0 LPAR6 LIPH DSG4 CDSN
4 hypotrichosis 4 32.9 LPAR6 LIPH KRT74 CDSN
5 hypotrichosis simplex of the scalp 32.4 KRT74 CDSN
6 monilethrix 30.5 LPAR6 LIPH KRT74 KRT25 DSG4 CDSN
7 hypotrichosis 6 29.6 TMEM41A LPAR6 LIPH KRT74 DSG4
8 familial woolly hair syndrome 29.5 LPAR6 LIPH KRT74 KRT25
9 hypotrichosis simplex 29.2 LPAR6 LIPH DSG4 CDSN
10 hypotrichosis 13 29.1 LPAR6 LIPH LIPC KRT25 DSG4
11 hair disease 28.7 LPAR6 LIPH KRT74 DSG4 CDSN
12 hypotrichosis 28.4 LPAR6 LIPH LIPC KRT74 KRT25 DSG4
13 hypotrichosis 8 27.7 TMEM41A OR6C2 LPAR6 LIPH KRT74 KRT25
14 hypotrichosis 2 12.7
15 hypotrichosis 1 12.6
16 hypotrichosis and recurrent skin vesicles 12.6
17 marie unna congenital hypotrichosis 12.6
18 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 12.6
19 hypotrichosis 12 12.6
20 metaphyseal dysplasia without hypotrichosis 12.6
21 hypotrichosis 14 12.6
22 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 12.5
23 hypotrichosis 5 12.5
24 spondyloepimetaphyseal dysplasia with hypotrichosis 12.5
25 hypotrichosis 10 12.5
26 hypotrichosis 9 12.5
27 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 12.5
28 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome 12.3
29 woolly hair, hypotrichosis, everted lower lip, and outstanding ears 12.3
30 leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis 12.2
31 hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate 12.2
32 schopf-schulz-passarge syndrome 12.2
33 hypotrichosis-deafness syndrome 12.2
34 brachymetapody-anodontia-hypotrichosis-albinoidism 12.2
35 hypotrichosis of eyelid 12.0
36 congenital hypotrichosis milia 12.0
37 hypotrichosis-intellectual disability, lopes type 12.0
38 bazex syndrome 12.0
39 palmoplantar keratoderma and congenital alopecia 1 12.0
40 loose anagen hair syndrome 11.8
41 rombo syndrome 11.8
42 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 11.8
43 ichthyosis, congenital, autosomal recessive 11 11.7
44 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 11.6
45 ectodermal dysplasia 15, hypohidrotic/hair type 11.6
46 noonan syndrome-like disorder with loose anagen hair 1 11.6
47 cataract 44 11.5
48 hallermann-streiff syndrome 11.5
49 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 11.5
50 cartilage-hair hypoplasia 11.5

Graphical network of the top 20 diseases related to Hypotrichosis 7:



Diseases related to Hypotrichosis 7
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Symptoms & Phenotypes for Hypotrichosis 7

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Human phenotypes related to Hypotrichosis 7:

31
# Description HPO Frequency HPO Source Accession
1 woolly hair 31 occasional (7.5%) HP:0002224
2 hypotrichosis 31 HP:0001006
3 sparse eyelashes 31 HP:0000653
4 comedo 31 HP:0025249
5 sparse and thin eyebrow 31 HP:0000535

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
sparse eyelashes
sparse eyebrows

Skin Nails Hair Nails:
normal nails

Skin Nails Hair Hair:
twisted hair shaft
sparse scalp hair from birth (in some patients)
woolly hair (in some patients)
sparse to no eyebrows (in some patients)
sparse to no eyelashes (in some patients)
more
Skin Nails Hair Skin:
normal skin
normal sweating

Head And Neck Teeth:
normal teeth

Clinical features from OMIM:

604379
Sources

Drugs & Therapeutics for Hypotrichosis 7

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Drugs for Hypotrichosis 7 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Minoxidil Approved, Investigational Phase 4 38304-91-5 4201
2
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
3 Vasodilator Agents Phase 4
4 Antihypertensive Agents Phase 4
5 Pharmaceutical Solutions Phase 4
6 Ophthalmic Solutions Phase 4
7 Dermatologic Agents Phase 4
8 Anti-Bacterial Agents Phase 2
9 Gentamicins Phase 2
10 Anti-Infective Agents Phase 2
11 Orange Approved
12
Glycerol Approved, Investigational 56-81-5 753
13
Zinc Approved, Investigational 7440-66-6 32051
14
Tocopherol Approved, Investigational 1406-66-2, 54-28-4 14986
15
Dihydrotachysterol Approved 67-96-9 5281010 5311071
16
Saw palmetto Approved, Experimental, Investigational
17
Capsaicin Approved 404-86-4 1548943
18
Vitamin C Approved, Nutraceutical 50-81-7 5785 54670067
19
Biotin Approved, Investigational, Nutraceutical 58-85-5 171548
20
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
21 Tocotrienol Investigational 6829-55-6
22
Piperine Investigational 94-62-2 638024
23 Vitamin B7
24 Anti-Inflammatory Agents
25 Trace Elements
26 Cytochrome P-450 Enzyme Inhibitors
27 Micronutrients
28 Vitamins
29 Saw palmetto extract
30 Nutrients
31 Tocopherols
32 Antioxidants
33 Hormone Antagonists
34 Tocotrienols
35 Antipruritics
36 Ashwagandha
37 Protective Agents
38 Hormones
39 Maca

Interventional clinical trials:

(show all 27)
# Name Status NCT ID Phase Drugs
1 Evaluating the Efficacy of Different Platelet Rich Plasma (PRP) Treatment Regimens in the Management of Androgenetic Alopecia: an Investigator-initiated, Single-center, Single-blinded, Prospective, Randomized Clinical Trial Unknown status NCT02999737 Phase 4
2 Efficacy and Tolerability of Minoxidil 2% for Eyebrow Enhancement : A Randomized , Double-blind , Placebo-controlled , Split-face Comparative Study Completed NCT01672307 Phase 4 Minoxidil lotion 2%;Placebo
3 Study of Bimatoprost Solution in Increasing Eyelash Prominence in African Americans With Eyelash Hypotrichosis Completed NCT00958035 Phase 4 bimatoprost ophthalmic 0.03% solution;vehicle sterile solution (placebo)
4 Minoxidil 1% for Eyebrow Enhancement: A Randomized , Double-blind , Placebo-controlled , Split-face Comparative Study Completed NCT01924000 Phase 4 Minoxidil lotion 1%;Placebo
5 Latisse(Bimatoprost .03% Opthalmic Solution) for the Treatment of Hypotrichosis of the Eyebrows: Latisse Versus Placebo Completed NCT01387906 Phase 4 topical bimatoprost
6 Safety and Efficacy of Bimatoprost Solution in Treating Eyelash Loss or Hypotrichosis in Children Completed NCT01023841 Phase 4 bimatoprost ophthalmic solution 0.03%;Vehicle Sterile Solution
7 Safety and Efficacy of LATISSE® in the Augmentation of Eyelashes of Korean Subjects Completed NCT01229423 Phase 4 bimatoprost 0.03%
8 Study Assessing Patient Satisfaction With LATISSE® for Increasing Eyelash Prominence Completed NCT01448525 Phase 4 bimatoprost ophthalmic solution 0.03%;bimatoprost vehicle solution
9 Safety and Efficacy of Bimatoprost 0.03% Solution for the Treatment of Eyebrow Hypotrichosis: A Phase 4 Investigator Initiated Study Completed NCT01891487 Phase 4 Track A;Track B
10 Bimatoprost 0.03% Solution, NB-UVB and Fractional Carbon Dioxide Laser in Treatment of Generalized Vitiligo Not yet recruiting NCT03487042 Phase 4 Bimatoprost 0.03% ophthalmic solution
11 Bimatoprost for the Treatment of Eyebrow Hypotrichosis Completed NCT01765764 Phase 3 bimatoprost solution;Vehicle to bimatoprost solution
12 Bimatoprost in the Treatment of Eyelash Hypotrichosis Completed NCT01698554 Phase 3 bimatoprost formulation A solution;bimatoprost solution 0.03 %;vehicle of bimatoprost formulation A solution;vehicle of bimatoprost solution 0.03 %
13 A Multicenter, Double-masked, Randomized, Parallel-group Study Assessing the Safety and Efficacy of Once-daily Application of Bimatoprost Solution 0.03% Compared to Vehicle to Treat Chemotherapy-induced Hypotrichosis of the Eyelashes in Japanese Subjects Completed NCT01391286 Phase 3 bimatoprost solution 0.03%;bimatoprost vehicle solution
14 A Multicenter, Double-masked, Randomized, Parallel-group Study Assessing the Safety and Efficacy of Once-Daily Application of Bimatoprost Solution 0.03% Compared to Vehicle in Increasing Overall Eyelash Prominence in Japanese Subjects With Hypotrichosis of the Eyelashes Completed NCT01391273 Phase 3 bimatoprost solution 0.03%;bimatoprost vehicle solution
15 Safety and Efficacy Study of Bimatoprost to Treat Hypotrichosis of the Eyelashes After Application to the Eyelid Margin Completed NCT00907426 Phase 3 Bimatoprost 0.03% solution;Vehicle solution
16 The Role of Bimatoprost Eyelash Gel in Chemotherapy-induced Madarosis: an Analysis of Efficacy and Safety Completed NCT01200251 Phase 3 Bimatoprost eyelash gel
17 Safety and Efficacy of Bimatoprost Ophthalmic Solution in Increasing Eyelash Prominence Completed NCT01064882 Phase 2 bimatoprost ophthalmic solution 0.005%;bimatoprost ophthalmic solution 0.015%;bimatoprost ophthalmic solution 0.03%
18 A Pilot Clinical Trial Investigating the Effect of Autologous Platelet-rich Plasma in Subjects With Mild to Moderate Eyebrow Hypotrichosis Recruiting NCT04018859 Phase 2 Saline
19 The Efficacy of Topical Gentamycin for the Treatment of Hereditary Hypotrichosis Simplex Caused by Heterozygous Nonsense Mutations in CDSN Encoding Corneodesmosin Not yet recruiting NCT03492866 Phase 2 Gentamicin Sulfate
20 An Observational Study of Patients Treated With Bimatoprost 0.03% (Latisse®) for Hypotrichosis of the Eyelashes Completed NCT01623479 bimatoprost 0.03%
21 Safety and Patient Satisfaction With GLASH VISTA™ (Bimatoprost 0.03%) in the Treatment of Eyelash Hypotrichosis in Japan Completed NCT02505776 Bimatoprost cutaneous solution 0.03%
22 A Multi-site, Double-blind, Placebo-controlled Clinical Study to Evaluate the Effects of Viviscal Oral Supplements When Used by Females With Self-perceived Thinning Hair Completed NCT02288858
23 A 6-Month, Randomized, Double-Blind, Placebo-Controlled Study Evaluating the Ability and Safety of a Nutraceutical Supplement With Standardized Botanicals to Promote Hair Growth in Women With Self-Perceived Thinning Hair Completed NCT03206567
24 A Multi-Center, Randomized, Double-Blind, Placebo-Controlled Clinical Study to Evaluate the Efficacy of the New Viviscal Professional Strength Oral Supplement in Females With Self-Perceived Thinning Hair Completed NCT02302053
25 A 3-Month, Randomized, Double-Blind, Placebo-Controlled Study Evaluating The Ability Of Viviscal Extra-Strength Formulation To Promote Hair Growth And Decrease Shedding In Women With Self-Perceived Thinning Hair Completed NCT02297360
26 A Randomized, Double-Blind, Placebo-Controlled Study Evaluating The Ability And Safety Of A Nutraceutical Supplement With Standardized Botanicals To Promote Hair Growth In Perimenopausal, Menopausal And Post-Menopausal Women With Self-Perceived Thinning Hair Recruiting NCT04048031
27 A Double-Blind, Randomized, Placebo-Controlled Study to Evaluate the Safety and Efficacy of an Oral Nutraceutical Supplement With Standardized Botanicals in Males With Self-Perceived Thinning Hair and Loss Active, not recruiting NCT03709563

Search NIH Clinical Center for Hypotrichosis 7

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Genetic Tests for Hypotrichosis 7

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Genetic tests related to Hypotrichosis 7:

# Genetic test Affiliating Genes
1 Hypotrichosis 7 29 LIPH
2 Woolly Hair, Autosomal Recessive 2, with or Without Hypotrichosis 29
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Anatomical Context for Hypotrichosis 7

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MalaCards organs/tissues related to Hypotrichosis 7:

40
Skin, Liver, Eye, T Cells, B Cells
Sources

Publications for Hypotrichosis 7

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Articles related to Hypotrichosis 7:

(show all 11)
# Title Authors PMID Year
1
Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan. 56 6
21426374 2011
2
Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis. 56 6
18830268 2009
3
The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis. 56 6
19365138 2009
4
A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2). 56 6
18445047 2008
5
A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis. 56 6
17333281 2007
6
Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH. 56 6
17095700 2006
7
Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis. 56
19892526 2009
8
Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11-q21.32. 56
17594396 2007
9
A novel locus for autosomal recessive form of hypotrichosis maps to chromosome 3q26.33-q27.3. 56
15520410 2004
10
Total hypotrichosis: genetic form of alopecia not linked to hairless gene. 56
10509509 1999
11
Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles. 61
26902920 2016
Sources

Variations for Hypotrichosis 7

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ClinVar genetic disease variations for Hypotrichosis 7:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LIPH LIPH, EX4 DELdeletion Pathogenic 3301
2 LIPH LIPH, 5-BP DEL, NT346deletion Pathogenic 3302
3 LIPH NM_139248.3(LIPH):c.659_660del (p.Ile220fs)deletion Pathogenic 3303 rs559648418 3:185241917-185241918 3:185524129-185524130
4 LIPH LIPH, EXONS 7-8 DELdeletion Pathogenic 3304
5 LIPH NM_139248.3(LIPH):c.322T>C (p.Trp108Arg)SNV Pathogenic 3305 rs267607219 3:185252648-185252648 3:185534860-185534860
6 LIPH LIPH, 90-BP DUP, NT280duplication Pathogenic 3306
7 LIPH NM_139248.3(LIPH):c.742C>A (p.His248Asn)SNV Pathogenic 30669 rs201868115 3:185237074-185237074 3:185519286-185519286
8 LIPH NM_139248.3(LIPH):c.736T>A (p.Cys246Ser)SNV Pathogenic/Likely pathogenic 225403 rs201249971 3:185237080-185237080 3:185519292-185519292

UniProtKB/Swiss-Prot genetic disease variations for Hypotrichosis 7:

73
# Symbol AA change Variation ID SNP ID
1 LIPH p.Trp108Arg VAR_059050 rs267607219

Sources

Expression for Hypotrichosis 7

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Search GEO for disease gene expression data for Hypotrichosis 7.
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Pathways for Hypotrichosis 7

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Pathways related to Hypotrichosis 7 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Keratinization 65
Show member pathways
 11.38 KRT74 KRT25 DSG4 CDSN
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GO Terms for Hypotrichosis 7

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Cellular components related to Hypotrichosis 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cornified envelope GO:0001533 8.96 DSG4 CDSN
2 desmosome GO:0030057 8.62 DSG4 CDSN

Biological processes related to Hypotrichosis 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 fatty acid biosynthetic process GO:0006633 9.26 LIPC ACSM1
2 keratinocyte differentiation GO:0030216 9.16 DSG4 CDSN
3 keratinization GO:0031424 9.13 KRT74 KRT25 DSG4
4 cornification GO:0070268 8.92 KRT74 KRT25 DSG4 CDSN

Molecular functions related to Hypotrichosis 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 carboxylic ester hydrolase activity GO:0052689 9.16 LIPH LIPC
2 phospholipase activity GO:0004620 8.96 LIPH LIPC
3 lipase activity GO:0016298 8.62 LIPH LIPC
Sources

Sources for Hypotrichosis 7

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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