HMI
MCID: HYP691
MIFTS: 53

Hypomelanosis of Ito (HMI)

Categories: Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hypomelanosis of Ito

MalaCards integrated aliases for Hypomelanosis of Ito:

Name: Hypomelanosis of Ito 57 12 20 36 15
Incontinentia Pigmenti Achromians 57 12 74 20 71
Nevus of Ito 12 20 58 17
Pigmentation Disorders 44 71
Ito Hypomelanosis 57 20
Ipa 57 20
Ito 57 20
Incontinentia Pigmenti, Type I, Formerly; Ip1, Formerly 57
Incontinentia Pigmenti Achromians Syndrome 12
Incontinentia Pigmenti, Type I, Formerly 57
Incontinentia Pigmenti Achromians; Ipa 57
Nevus Fuscocaeruleus Acromiodeltoideus 58
Skin Pigmentation Disorder 71
Bloch Sulzberger Syndrome 71
Ito Hypomelanosis; Ito 57
Bloch-Siemans Syndrome 12
Ip1, Formerly 57
Ito's Nevus 12
Nevi of Ito 20
Hmi 57

Characteristics:

Orphanet epidemiological data:

58
nevus of ito
Inheritance: Not applicable; Age of onset: All ages;

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
heterogeneous
most cases sporadic
a nonspecific marker of somatic mosaicism
skin abnormalities can be present at birth or appear later in infancy or childhood
seventy percent of cases have associated anomalies

Inheritance:
somatic mosaicism


HPO:

31
hypomelanosis of ito:
Inheritance heterogeneous somatic mosaicism


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:3156
OMIM® 57 300337
KEGG 36 H00885
MeSH 44 D010859
NCIt 50 C7582
SNOMED-CT 67 367520004
ICD10 via Orphanet 33 D22.6
UMLS via Orphanet 72 C0022283
Orphanet 58 ORPHA263432
MedGen 41 C0022283
UMLS 71 C0021171 C0022283 C0549567 more

Summaries for Hypomelanosis of Ito

GARD : 20 Hypomelanosis of Ito, also called incontinentia pigmenti achromians, causes streaked, whirled, or mottled patches of light-colored skin. These skin changes often develop within the first two years of life. Other symptoms may include varying degrees of learning disability, seizures, increased body hair, scoliosis, and strabismus. The exact cause is not known. Many people with hypomelanosis of Ito syndrome have cells that have the normal chromosomes and some cells with abnormal chromosomes. This is known as chromosomal mosaicism. This condition is not inherited in families. Girls tend to be affected more commonly than boys. Diagnosis is based on the symptoms, a clinical examination, and the results of a skin biopsy. Treatment is focused on managing the symptoms.

MalaCards based summary : Hypomelanosis of Ito, also known as incontinentia pigmenti achromians, is related to hydrocephalus, congenital, 1 and weber syndrome, and has symptoms including seizures, muscle weakness and polydipsia. An important gene associated with Hypomelanosis of Ito is COL5A1 (Collagen Type V Alpha 1 Chain), and among its related pathways/superpathways are TNFR1 Pathway and Toll-like Receptor Signaling Pathway. The drugs Aldesleukin and Tacrolimus have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and brain, and related phenotypes are macrocephaly and intellectual disability

Disease Ontology : 12 A skin disease that is characterized by distinctive skin changes, in which areas of the body lack skin color (hypopigmentation).

KEGG : 36 Hypomelanosis of Ito is a neurocutaneous syndrome with hypopigmented whorls of skin along the Blaschko lines associated with other congenital defects of central nervous system, the eye, and skeletal system. The hypomelanotic lesions are present at birth and in these lesions decrease in the number of melanocytes is observed. Hypomelanosis of Ito includes many different states of chromosomal mosaicism.

Wikipedia : 74 Incontinentia pigmenti achromians (also known as "hypomelanosis of Ito") is a cutaneous condition... more...

More information from OMIM: 300337

Related Diseases for Hypomelanosis of Ito

Diseases related to Hypomelanosis of Ito via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 345)
# Related Disease Score Top Affiliating Genes
1 hydrocephalus, congenital, 1 30.5 PLOD1 ARFGEF2
2 weber syndrome 30.4 GNAQ GNA11
3 west syndrome 30.1 TUBA1A PAFAH1B1 DEPDC5 ARFGEF2
4 mongolian spot 30.1 GNAQ GNA11
5 nevus, epidermal 29.5 NRAS GNAQ AKT3
6 skin melanoma 29.1 NRAS GNAQ GNA11 AKT3
7 renpenning syndrome 1 11.4
8 incontinentia pigmenti 11.4
9 pigmentation anomaly of the skin 11.4
10 hemimegalencephaly 11.3
11 nevoid hypermelanosis, linear and whorled 11.2
12 neurodevelopmental disorder with absent language and variable seizures 11.1
13 x-linked intellectual disability, golabi-ito-hall type 10.9
14 chromosomal triplication 10.6
15 hypotonia 10.5
16 hypertrichosis 10.4
17 seizure disorder 10.4
18 autism 10.3
19 hemihyperplasia, isolated 10.3
20 scoliosis 10.3
21 microcephaly 10.3
22 squamous cell papilloma 10.3
23 papilloma 10.3
24 dowling-degos disease 1 10.3
25 strabismus 10.3
26 inguinal hernia 10.3
27 tuberous sclerosis 10.3
28 kidney disease 10.3
29 mechanical strabismus 10.3
30 precocious puberty 10.3
31 overgrowth syndrome 10.3
32 vitiligo-associated multiple autoimmune disease susceptibility 6 10.2
33 dermatitis, atopic 10.2
34 vitiligo-associated multiple autoimmune disease susceptibility 1 10.2
35 pustulosis of palm and sole 10.2
36 psoriasis 10.2
37 lymphangiectasis 10.2
38 phakomatosis cesioflammea 10.2 GNAQ GNA11
39 cleft palate, isolated 10.2
40 hypertelorism 10.2
41 retinal detachment 10.2
42 split-hand/foot malformation 1 10.2
43 sturge-weber syndrome 10.2
44 chromosome 2q35 duplication syndrome 10.2
45 tuberous sclerosis 1 10.2
46 macrocephaly/megalencephaly syndrome, autosomal recessive 10.2
47 papilloma of choroid plexus 10.2
48 ataxia and polyneuropathy, adult-onset 10.2
49 exanthem 10.2
50 atypical autism 10.2

Graphical network of the top 20 diseases related to Hypomelanosis of Ito:



Diseases related to Hypomelanosis of Ito

Symptoms & Phenotypes for Hypomelanosis of Ito

Human phenotypes related to Hypomelanosis of Ito:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 intellectual disability 31 HP:0001249
3 scoliosis 31 HP:0002650
4 kyphosis 31 HP:0002808
5 coarse facial features 31 HP:0000280
6 cataract 31 HP:0000518
7 hypertelorism 31 HP:0000316
8 microcephaly 31 HP:0000252
9 thick lower lip vermilion 31 HP:0000179
10 strabismus 31 HP:0000486
11 epicanthus 31 HP:0000286
12 alopecia 31 HP:0001596
13 iris coloboma 31 HP:0000612
14 hand polydactyly 31 HP:0001161
15 abnormality of metabolism/homeostasis 31 HP:0001939
16 gray matter heterotopia 31 HP:0002282
17 cerebral atrophy 31 HP:0002059
18 radial deviation of finger 31 HP:0009466
19 clinodactyly 31 HP:0030084
20 syndactyly 31 HP:0001159
21 irregularly spaced teeth 31 HP:0006316
22 seizure 31 HP:0001250
23 macular hypopigmented whorls, streaks, and patches 31 HP:0005593

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Head:
macrocephaly
microcephaly

Skeletal Spine:
scoliosis
kyphosis

Skin Nails Hair Hair:
alopecia

Head And Neck Teeth:
irregularly spaced teeth

Head And Neck Mouth:
thick lips

Laboratory Abnormalities:
chromosomal mosaicism in fibroblast and/or peripheral lymphocytes no consistent karyotypic finding

Neurologic Central Nervous System:
seizures
cerebral atrophy
mental retardation
gray matter heterotopias

Head And Neck Eyes:
cataract
hypertelorism
strabismus
iris coloboma
epicanthal folds

Skeletal Hands:
clinodactyly
polydactyly
syndactyly

Skin Nails Hair Skin:
macular hypopigmented whorls, streaks, and patches
no inflammatory or bullous skin lesions

Head And Neck Face:
coarse facies

Clinical features from OMIM®:

300337 (Updated 05-Mar-2021)

UMLS symptoms related to Hypomelanosis of Ito:


seizures, muscle weakness, polydipsia, pruritus, exanthema, muscle spasticity

MGI Mouse Phenotypes related to Hypomelanosis of Ito:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.96 AKT3 DEPDC5 GNA11 GNAQ IKBKG KIF13A
2 growth/size/body region MP:0005378 9.93 AKT3 ARFGEF2 COL5A1 DEPDC5 GNA11 GNAQ
3 mortality/aging MP:0010768 9.73 AKT3 ARFGEF2 COL5A1 DEPDC5 GNA11 GNAQ
4 normal MP:0002873 9.17 AKT3 COL5A1 GNA11 GNAQ IKBKG KIF13A

Drugs & Therapeutics for Hypomelanosis of Ito

Drugs for Hypomelanosis of Ito (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aldesleukin Approved Phase 3 110942-02-4, 85898-30-2
2
Tacrolimus Approved, Investigational Phase 2, Phase 3 104987-11-3 445643 439492 6473866
3 Pharmaceutical Solutions Phase 3
4 Anti-Infective Agents Phase 3
5 Anti-HIV Agents Phase 3
6 Interleukin-2 Phase 3
7 Antiviral Agents Phase 3
8 Anti-Retroviral Agents Phase 3
9 Immunosuppressive Agents Phase 2, Phase 3
10 Immunologic Factors Phase 2, Phase 3
11 Calcineurin Inhibitors Phase 2, Phase 3
12
Triamcinolone Approved, Vet_approved Phase 2 124-94-7 31307
13
Hydroquinone Approved, Investigational Phase 2 123-31-9 785
14
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538 444795
15 triamcinolone acetonide Phase 2
16 Triamcinolone diacetate Phase 2
17 Triamcinolone hexacetonide Phase 2
18
Chlorhexidine Approved, Vet_approved 55-56-1 9552079 2713
19 Chlorhexidine gluconate
20 Protective Agents
21 Carotenoids
22 Antioxidants

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 Evaluation of Pigmented Skin Lesions With MelaFind(R) System Completed NCT00434057 Phase 3
2 Pre-Treatment of Highly Suspicious Pigmented Skin Lesions With Interleukin-2 Recruiting NCT03233828 Phase 3
3 Maintenance Treatment of Non Segmental Vitiligo With Tacrolimus Ointment 0.1% Versus Control, Randomized and Double Blind Study Terminated NCT01841008 Phase 2, Phase 3 Protopic;Placebo : Diprobase
4 Ablative Fractional Laser Therapy as Treatment for Becker's Nevus; a Pilot Study Completed NCT01083498 Phase 2
5 Non-ablative 1,550 nm Fractional Laser Therapy Versus Triple Topical Therapy for the Treatment of Melasma: a Randomized Controlled Split-face Study Completed NCT01085279 Phase 2 Modified Kligman's formula (Triple topical therapy)
6 Pilot Study to Determine the Feasibility and Functionality of fPAM Imaging for the in Vivo Depth Measurement of Pigmented Lesions and Melanoma Depth Completed NCT02613325 Phase 1
7 A Proof of Concept Cases Series on the Use of the Epidermal Expansion System to Harvest and Place Suction Blister Epidermal Grafts on Hypopigmented Skin and Surgical Wounds Unknown status NCT01590329
8 A Single-Center Open-Label Study of 1064 nm Nd:YAG for Nonablative Skin Rejuvenation Unknown status NCT03421691
9 Dermoscopy Evaluation of Pigmented Skin Lesions by a Neuronal Network Clinical Decision Support: an Open Prospective Non Interventional Study Unknown status NCT03362138
10 A Single-Center Prospective, Open-Label Study of the Excel V 532 nm KTP Laser for the Treatment of Poikiloderma of Civatte Completed NCT01491620
11 A Clinical Evaluation of a Novel Multi-Wavelength Laser for Benign Pigmented Lesion Removal Completed NCT02635880
12 A Pilot Study to Evaluate the Correlation Between Modified Two Layer Diffuse Optical Spectroscopy With the Clinical and Histological Examinations of Pigmented Skin Lesions Based on Physiological Parameters Completed NCT00633516
13 MelaFind Evaluations for Patients With Multiple Nevi Completed NCT01700101
14 A Multi-center Sample Collection Study in Patients With Suspected Melanoma Utilizing DermTech's Non-invasive Adhesive Patch Biopsy Kits Recruiting NCT04550000
15 Non-invasive Imaging Modalities for Assessment of Normal and Lesional Skin Recruiting NCT00764920
16 Evaluation of the Improvement of Pigmented Skin Lesions in Patients With Mastocytosis After Performing 2 Sessions of Pigment Laser : Pilot Study Conducted at a Reference Centre Mastocytoses (LaserMasto) Recruiting NCT04377828
17 Macular Pigment Measurements in Eye & Other Tissues Recruiting NCT03022773
18 Evaluation of a New Dermal Cryotherapy System for the Treatment of Benign Pigmented Lesions Recruiting NCT02848742
19 Pilot Study of Imaging Human Skin With High-Speed Spectrally Encoded Confocal Microscopy Not yet recruiting NCT04566302

Search NIH Clinical Center for Hypomelanosis of Ito

Cochrane evidence based reviews: pigmentation disorders

Genetic Tests for Hypomelanosis of Ito

Anatomical Context for Hypomelanosis of Ito

MalaCards organs/tissues related to Hypomelanosis of Ito:

40
Skin, Eye, Brain, Kidney, Colon

Publications for Hypomelanosis of Ito

Articles related to Hypomelanosis of Ito:

(show top 50) (show all 322)
# Title Authors PMID Year
1
Familial hypomelanosis of ito: implications for genetic counselling. 57 61
11074501 2000
2
Incontinentia pigmenti versus hypomelanosis of Ito: the whys and wherefores of a confusing issue. 61 57
9738871 1998
3
Arteriovenous malformation in hypomelanosis of Ito. 61 57
8907350 1996
4
Clinico-neuropathological study of incontinentia pigmenti achromians--an autopsy case. 61 57
8747421 1995
5
Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: is there a role for the P gene? 61 57
7557977 1995
6
Neurophysiologic dysfunction in hypomelanosis of Ito: EEG and evoked potential studies. 61 57
7892963 1994
7
Epidermal mosaicism and Blaschko's lines. 61 57
8411070 1993
8
Incontinentia pigmenti achromians (hypomelanosis of ITO, MIM 146150): further evidence of localization at Xp11. 57 61
8322815 1993
9
Hypomelanosis of Ito in a girl with plexus papilloma and translocation (X;17). 57 61
8444466 1993
10
Cytogenetic and dermatoglyphic findings in a familial case of hypomelanosis of Ito (incontinentia pigmenti achromians). 61 57
1623628 1992
11
Hypomelanosis of Ito. 57 61
1347852 1992
12
Hypomelanosis of Ito associated with chromosomal translocation involving Xp11. 61 57
1746610 1991
13
Familial hypomelanosis of Ito. 61 57
1756756 1991
14
Pigmentary abnormalities and mosaicism for chromosomal aberration: association with clinical features similar to hypomelanosis of Ito. 61 57
2319405 1990
15
Hypomelanosis of Ito--a nonspecific marker of somatic mosaicism: report of case with trisomy 18 mosaicism. 61 57
2309792 1990
16
Pigmentary dysplasias, hypomelanosis of Ito, and genetic mosaicism. 61 57
2405667 1990
17
Chromosome mosaicism in hypomelanosis of Ito. 57 61
2301465 1990
18
Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism. 57 61
2667350 1989
19
Hypomelanosis of Ito: a manifestation of mosaicism or chimerism. 61 57
3236362 1988
20
Genetic counselling in hypomelanosis of Ito: case report and review. 61 57
3056640 1988
21
Hypomelanosis of Ito. Neurological complications in 34 cases. 57 61
3383022 1988
22
Tentative assignment of hypomelanosis of Ito to 9q33----qter. 57 61
3804339 1987
23
Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1. 57 61
3464561 1986
24
Hypomelanosis of Ito. Case report with involvement of the central nervous system and review of the literature. 57 61
6709127 1984
25
Hamartomatous dental cusps in hypomelanosis of Ito. 61 57
7067164 1982
26
Hypomelanosis of Ito (incontinentia pigmenti achromians): a neurocutaneous syndrome. 57 61
830915 1977
27
Dental dysplasia in incontinentia pigmenti achromians (Ito). An unusual form. 57 61
1062218 1976
28
Hypomelanosis of Ito ("incontinentia pigmenti achromians"). Report of three cases and review of the literature. 57 61
4633268 1973
29
Incontinentia pigmenti achromians. Multiple cases within a family. 61 57
5012145 1972
30
[Incontinentia pigmenti achromians (ITO). Clinical and histopathological study]. 57 61
4995809 1971
31
Incontinentia pigmenti (type 1) and X;5 translocation. 57
1610121 1992
32
Localization of DNA sequences to a region within Xp11.21 between incontinentia pigmenti (IP1) X-chromosomal translocation breakpoints. 57
1985463 1991
33
Of mice, persons, and pigment. 57
2757027 1989
34
Incontinentia pigmenti and X-autosome translocations. Non-isotopic in situ hybridization with an X-centromere-specific probe (pSV2X5) reveals a possible X-centromeric breakpoint in one of five published cases. 57
2921037 1989
35
Incontinentia pigmenti: Xp breakpoint is not the same in a case of r(X) and in X/autosome translocations. 57
2817774 1989
36
Gene for incontinentia pigmenti maps to band Xp11 with an (X;10) (p11;q22) translocation. 57
3621656 1987
37
Incontinentia pigmenti (IP) and r(X). Tentative mapping of the IP locus to the X juxtacentromeric region. 57
3876068 1985
38
Two cases of X/autosome translocation in females with incontinentia pigmenti. 57
4065895 1985
39
Translocation (X;9)(p11;q34) in a girl with incontinentia pigmenti (IP): implications for the regional assignment of the IP locus to Xp11? 57
3876069 1985
40
Translocation (X;13)(p11.21;q12.3) in a girl with incontinentia pigmenti and bilateral retinoblastoma. 57
3879432 1985
41
The lines of Blaschko: a review and reconsideration: Observations of the cause of certain unusual linear conditions of the skin. 57
788770 1976
42
Postzygotic inactivating mutation of KIF13A located at chromosome 6p22.3 in a patient with a novel mosaic neuroectodermal syndrome. 61
33526817 2021
43
Hypomelanosis of Ito presenting with unilateral dilation of Virchow-Robin spaces: a case report. 61
33585955 2021
44
A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth. 61
33506498 2021
45
Cutaneous manifestations in Moyamoya angiopathy: a review. 61
33486780 2021
46
Compassionate use of everolimus for refractory epilepsy in a patient with MTOR mosaic mutation. 61
32805448 2020
47
Palmoplantar depigmentation in Macaca fascicularis following Blaschko linear pattern. 61
31657466 2020
48
A case of hypomelanosis of Ito accompanied by unilateral abnormal limb overgrowth and delayed speech. 61
32232208 2020
49
Nevus depigmentosus: review of a mark of distinction. 61
30801693 2019
50
The color of skin: gray diseases of the skin, nails, and mucosa. 61
31896405 2019

Variations for Hypomelanosis of Ito

Expression for Hypomelanosis of Ito

Search GEO for disease gene expression data for Hypomelanosis of Ito.

Pathways for Hypomelanosis of Ito

Pathways related to Hypomelanosis of Ito according to GeneCards Suite gene sharing:

(show all 29)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.91 NRAS IKBKG GNAQ GNA11 AKT3
2
Show member pathways
12.78 NRAS IKBKG GNAQ GNA11 AKT3
3
Show member pathways
12.61 NRAS GNAQ GNA11 AKT3
4
Show member pathways
12.6 NRAS GNAQ GNA11 AKT3
5
Show member pathways
12.57 NRAS IKBKG GNAQ GNA11 AKT3
6
Show member pathways
12.56 NRAS IKBKG GNAQ AKT3
7
Show member pathways
12.52 TUBA1A NRAS IKBKG AKT3
8
Show member pathways
12.48 NRAS IKBKG GNAQ GNA11 AKT3
9
Show member pathways
12.46 NRAS GNAQ GNA11 AKT3
10
Show member pathways
12.45 NRAS IKBKG GNA11 AKT3
11 12.38 NRAS IKBKG GNAQ GNA11 AKT3
12
Show member pathways
12.29 NRAS GNAQ GNA11 AKT3
13
Show member pathways
12.17 NRAS IKBKG AKT3
14
Show member pathways
12.06 NRAS IKBKG AKT3
15
Show member pathways
12.01 NRAS IKBKG AKT3
16
Show member pathways
11.96 NRAS IKBKG AKT3
17
Show member pathways
11.9 NRAS GNAQ GNA11
18 11.9 IKBKG GNAQ AKT3
19 11.89 NRAS GNAQ AKT3
20
Show member pathways
11.79 GNAQ GNA11 AKT3
21 11.78 NRAS IKBKG AKT3
22 11.71 NRAS GNAQ AKT3
23
Show member pathways
11.67 GNAQ GNA11 AKT3
24 11.35 IKBKG GNAQ GNA11
25 11.2 TUBA1A NRAS GNAQ GNA11
26 11.11 NRAS GNAQ GNA11
27 10.89 NRAS GNAQ
28 10.73 NRAS GNAQ GNA11 AKT3
29
Show member pathways
10.68 GNAQ GNA11

GO Terms for Hypomelanosis of Ito

Biological processes related to Hypomelanosis of Ito according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 brain morphogenesis GO:0048854 9.32 PAFAH1B1 AKT3
2 action potential GO:0001508 9.26 GNAQ GNA11
3 G protein-coupled acetylcholine receptor signaling pathway GO:0007213 9.16 GNAQ GNA11
4 phototransduction, visible light GO:0007603 8.96 GNAQ GNA11
5 entrainment of circadian clock GO:0009649 8.62 GNAQ GNA11

Molecular functions related to Hypomelanosis of Ito according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.28 TUBA1A STK40 PLOD1 PAFAH1B1 NRAS N4BP3
2 protein-containing complex binding GO:0044877 9.67 PAFAH1B1 NRAS IKBKG DEPDC5
3 GTP binding GO:0005525 9.62 TUBA1A NRAS GNAQ GNA11
4 nucleotide binding GO:0000166 9.5 TUBA1A STK40 NRAS KIF13A GNAQ GNA11
5 GTPase activity GO:0003924 9.46 TUBA1A NRAS GNAQ GNA11
6 G-protein beta/gamma-subunit complex binding GO:0031683 9.4 GNAQ GNA11
7 guanyl nucleotide binding GO:0019001 9.26 GNAQ GNA11
8 type 2A serotonin receptor binding GO:0031826 8.62 GNAQ GNA11

Sources for Hypomelanosis of Ito

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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