IP
MCID: INC001
MIFTS: 56

Incontinentia Pigmenti Achromians (IP) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Fetal diseases, Cancer diseases categories

Summaries for Incontinentia Pigmenti Achromians

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NINDS:43 Incontinentia pigmenti (IP) is an inherited disorder of skin pigmentation that is also associated with abnormalities of the teeth, skeletal system, eyes, and central nervous system. It is one of a group of gene-linked diseases known as neurocutaneous disorders. In most cases, IP is caused by mutations in a gene called NEMO (NF-kappaB essential modulator). Males are more severely affected than females. Discolored skin is caused by excessive deposits of melanin (normal skin pigment). Most newborns with IP will develop discolored skin within the first two weeks. The pigmentation involves the trunk and extremities, is slate-grey, blue or brown, and is distributed in irregular marbled or wavy lines. The discoloration fades with age. Neurological problems include loss of brain tissue (known as cerebral atrophy), the formation of small cavities in the central white matter of the brain, and the loss of neurons in the cerebellar cortex. About 20% of children with IP will have slow motor development, muscle weakness in one or both sides of the body, mental retardation, and seizures. They are also likely to have visual problems, including crossed eyes, cataracts, and severe visual loss. Dental problems are also common, including missing or peg-shaped teeth. A related disorder, incontinentia pigmenti achromians, features skin patterns of light, unpigmented swirls and streaks that are the reverse of IP. Associated neurological problems are similar.

MalaCards based summary: Incontinentia Pigmenti Achromians, also known as incontinentia pigmenti, is related to hemimegalencephaly and ectodermal dysplasia, and has symptoms including abnormality of the fontanelles or cranial sutures, strabismus and hypopigmented skin patches. An important gene associated with Incontinentia Pigmenti Achromians is IKBKG (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma). The drug dihydroxyacetone has been mentioned in the context of this disorder. Affiliated tissues include skin, eye and brain.

NIH Rare Diseases:42 Hypomelanosis of ito, also called incontinentia pigmenti achromians, is a rare birth defect that 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 underlying cause of the condition is currently unknown. girls tend to be affected more commonly than boys. last updated: 2/24/2012

Genetics Home Reference:22 Incontinentia pigmenti is a condition that can affect many body systems, particularly the skin. This condition occurs much more often in females than in males.

OMIM:46 Familial incontinentia pigmenti (IP) is a genodermatosis that segregates as an X-linked dominant disorder and is... (308300) more...

Wikipedia:64 Incontinentia pigmenti achromians (also known as \"Hypomelanosis of Ito\") is a cutaneous condition... more...

Description from OMIM:46 300337

GeneReviews summary for i-p

Aliases & Classifications for Incontinentia Pigmenti Achromians

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Sources:
9Disease Ontology, 64Wikipedia, 20GeneReviews, 42NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 43NINDS, 46OMIM, 44Novoseek, 48Orphanet, 61UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet, 26ICD10
See all sources

Incontinentia Pigmenti Achromians, Aliases & Descriptions:

Name: Incontinentia Pigmenti Achromians 9 42 61
Incontinentia Pigmenti 64 20 42 22 43 44 48 61
Bloch-Sulzberger Syndrome 64 20 42 22 48
Nevus of Ito 9 42 48 61
Incontinentia Pigmenti Syndrome 9 21 23
Hypomelanosis of Ito 9 42 48
Ito Hypomelanosis 42 48 46
Ip 64 42 22
Incontinentia Pigmenti Achromians Syndrome 9 61
Bloch-Siemens-Sulzberger Syndrome 22 61
Incontinentia Pigmenti Type 1 42 48
Bloch-Siemens Syndrome 22 48
Incontinentia Pigmenti, Familial Male-Lethal Type 42
 
Incontinentia Pigmenti, Type Ii 46
Pigmentary Mosaicism, Ito Type 48
Incontinentia Pigmenti Type 2 42
Hypopigmentation Disorder 61
Bloch Sulzberger Syndrome 61
Benign Melanocytic Nevus 61
Bloch-Siemans Syndrome 9
Hi Syndrome 48
Ito's Nevus 9
Nevi of Ito 42
Ip2 42
Ipa 42
Ito 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
incontinentia pigmenti:
Inheritance: X-linked dominant; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Normal
nevus of ito:
Inheritance: Sporadic; Age of onset: Variable
hypomelanosis of ito:
Inheritance: Autosomal dominant,Autosomal recessive,Sporadic,X-linked recessive; Age of onset: Childhood; Age of death: Normal


External Ids:

Disease Ontology9 DOID:3156
NCIt39 C7582
MeSH34 D010859
MESH via Orphanet35 D007184
ICD10 via Orphanet27 Q82.3, D22.6, Q87.8
UMLS via Orphanet62 C0022283
ICD1026 Q82.3

Related Diseases for Incontinentia Pigmenti Achromians

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Graphical network of the top 20 diseases related to Incontinentia Pigmenti Achromians:



Diseases related to incontinentia pigmenti achromians

Symptoms for Incontinentia Pigmenti Achromians

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Symptoms by clinical synopsis from OMIM:

300337

Clinical features from OMIM:

308300,300337

Symptoms:

 48 (show all 95)
  • anodontia/oligodontia/hypodontia
  • cutaneous rash
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • irregular/patchy skin hypopigmentation
  • irregular/in bands/reticular skin hyperpigmentation
  • telangiectasiae of the skin
  • warts/papillomas
  • hair and scalp anomalies
  • nails anomalies
  • abnormal fingernails
  • absent/small fingernails/anonychia of hands
  • x-linked dominant inheritance
  • large fontanelle/delayed fontanelle closure
  • aniridia/iris hypoplasia
  • heterochromia/mixed colouring of iris
  • strabismus/squint
  • seizures/epilepsy/absences/spasms/status epilepticus
  • corneal clouding/opacity/vascularisation
  • visual loss/blindness/amblyopia
  • cleft lip and palate
  • tooth shape anomaly
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • anomalies of ear and hearing
  • supernumerary nipples/polythelia
  • anomalies of the ribs
  • scoliosis
  • anomalies of hands
  • complete claw hand/camptodactyly of all fingers
  • clinodactyly of fingers 1,2,3,4/overlapping fingers
  • hyperhidrosis/increased sweating
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • chronic skin infection/ulcerations/ulcers/cancrum
  • alopecia
  • abnormal gait
  • hyperactivity/attention deficit
  • osteolysis/osteoclasia/bone destruction/erosions
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • eosinophils anomalies/hypereosinophilia
  • short stature/dwarfism/nanism
  • asymmetry of the body/hemiatrophy/hemihyperthrophy
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • hypertelorism
  • upslanted palpebral fissures/mongoloid slanting palpebral fissures
  • macular pigmentary anomaly/cherry-red spot
  • myopia
  • spina bifida occulta
  • hypotonia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • total/partial trisomy/duplication
  • insterstitial/subtelomeric microdeletion/deletion
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • blue sclerae
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • cataract/lens opacification
  • retinal detachment
  • retinal vascular anomalies/retinal telangiectasia
  • retinal/chorioretinal dysplasia/dystrophy
  • enamel anomaly
  • umbilical hernia
  • hand agenesis/absence
  • syndactyly of fingers/interdigital palm
  • dysplastic/thick/grooved fingernails
  • abnormal toenails
  • dysplastic/thick/grooved toenails
  • pulmonary hypertension
  • heart/cardiac failure
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • transient cerebral ischemia/stroke
  • encephalitis
  • motor deficit/trouble
  • hypertonia/spasticity/rigidity/stiffness
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • microcephaly
  • dolichocephaly/scaphocephaly
  • brachycephaly/flat occiput
  • coloboma of iris
  • retinoschisis/retinal/chorioretinal coloboma
  • nystagmus
  • flattened nose
  • palate exostoses/torus palatinus
  • upper limb segmental anomalies
  • fingerlike/triphalangeal thumb
  • lower limb segmental anomalies
  • genu varum
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • hirsutism/hypertrichosis/increased body hair
  • arteriovenous malformations/vascular malformations (excluding port-wine stains)
  • renal disease/nephropathy
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • schizencephaly
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • intrauterine growth retardation

HPO human phenotypes related to Incontinentia Pigmenti Achromians:

(show all 150)
id Description Frequency HPO Source Accession
1 abnormality of the fontanelles or cranial sutures hallmark (90%) HP:0000235
2 strabismus hallmark (90%) HP:0000486
3 hypopigmented skin patches hallmark (90%) HP:0001053
4 heterochromia iridis hallmark (90%) HP:0001100
5 seizures hallmark (90%) HP:0001250
6 aplasia/hypoplasia of the iris hallmark (90%) HP:0008053
7 skin rash hallmark (90%) HP:0000988
8 abnormality of the fingernails hallmark (90%) HP:0001231
9 anonychia hallmark (90%) HP:0001798
10 irregular hyperpigmentation hallmark (90%) HP:0007400
11 abnormal blistering of the skin hallmark (90%) HP:0008066
12 reduced number of teeth hallmark (90%) HP:0009804
13 teleangiectasia of the skin hallmark (90%) HP:0100585
14 verrucae hallmark (90%) HP:0200043
15 macrocephaly typical (50%) HP:0000256
16 hypertelorism typical (50%) HP:0000316
17 myopia typical (50%) HP:0000545
18 upslanted palpebral fissure typical (50%) HP:0000582
19 abnormality of the macula typical (50%) HP:0001103
20 muscular hypotonia typical (50%) HP:0001252
21 abnormality of chromosome segregation typical (50%) HP:0002916
22 spina bifida occulta typical (50%) HP:0003298
23 abnormality of dental morphology typical (50%) HP:0006482
24 opacification of the corneal stroma typical (50%) HP:0007759
25 cognitive impairment typical (50%) HP:0100543
26 oral cleft typical (50%) HP:0000202
27 hearing abnormality typical (50%) HP:0000364
28 strabismus typical (50%) HP:0000486
29 visual impairment typical (50%) HP:0000505
30 delayed eruption of teeth typical (50%) HP:0000684
31 abnormality of the ribs typical (50%) HP:0000772
32 hyperkeratosis typical (50%) HP:0000962
33 hyperhidrosis typical (50%) HP:0000975
34 gait disturbance typical (50%) HP:0001288
35 alopecia typical (50%) HP:0001596
36 abnormality of eosinophils typical (50%) HP:0001879
37 supernumerary nipples typical (50%) HP:0002558
38 scoliosis typical (50%) HP:0002650
39 osteolysis typical (50%) HP:0002797
40 deviation of finger typical (50%) HP:0004097
41 short stature typical (50%) HP:0004322
42 attention deficit hyperactivity disorder typical (50%) HP:0007018
43 abnormality of immune system physiology typical (50%) HP:0010978
44 camptodactyly of finger typical (50%) HP:0100490
45 asymmetric growth typical (50%) HP:0100555
46 skin ulcer typical (50%) HP:0200042
47 cryptorchidism occasional (7.5%) HP:0000028
48 nephropathy occasional (7.5%) HP:0000112
49 microcephaly occasional (7.5%) HP:0000252
50 dolichocephaly occasional (7.5%) HP:0000268
51 hearing abnormality occasional (7.5%) HP:0000364
52 depressed nasal ridge occasional (7.5%) HP:0000457
53 chorioretinal coloboma occasional (7.5%) HP:0000567
54 iris coloboma occasional (7.5%) HP:0000612
55 nystagmus occasional (7.5%) HP:0000639
56 hypertrichosis occasional (7.5%) HP:0000998
57 triphalangeal thumb occasional (7.5%) HP:0001199
58 intrauterine growth retardation occasional (7.5%) HP:0001511
59 abnormality of neuronal migration occasional (7.5%) HP:0002269
60 scoliosis occasional (7.5%) HP:0002650
61 genu varum occasional (7.5%) HP:0002970
62 deviation of finger occasional (7.5%) HP:0004097
63 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360
64 schizencephaly occasional (7.5%) HP:0010636
65 arteriovenous malformation occasional (7.5%) HP:0100026
66 camptodactyly of finger occasional (7.5%) HP:0100490
67 asymmetric growth occasional (7.5%) HP:0100555
68 torus palatinus occasional (7.5%) HP:0100789
69 cataract occasional (7.5%) HP:0000518
70 chorioretinal abnormality occasional (7.5%) HP:0000532
71 retinal detachment occasional (7.5%) HP:0000541
72 blue sclerae occasional (7.5%) HP:0000592
73 abnormality of dental enamel occasional (7.5%) HP:0000682
74 abnormality of the fingernails occasional (7.5%) HP:0001231
75 seizures occasional (7.5%) HP:0001250
76 muscular hypotonia occasional (7.5%) HP:0001252
77 hypertonia occasional (7.5%) HP:0001276
78 umbilical hernia occasional (7.5%) HP:0001537
79 congestive heart failure occasional (7.5%) HP:0001635
80 pulmonary hypertension occasional (7.5%) HP:0002092
81 cerebral cortical atrophy occasional (7.5%) HP:0002120
82 encephalitis occasional (7.5%) HP:0002383
83 cerebral ischemia occasional (7.5%) HP:0002637
84 spina bifida occulta occasional (7.5%) HP:0003298
85 absent hand occasional (7.5%) HP:0004050
86 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
87 finger syndactyly occasional (7.5%) HP:0006101
88 abnormality of the retinal vasculature occasional (7.5%) HP:0008046
89 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
90 abnormality of the toenail occasional (7.5%) HP:0008388
91 inflammatory abnormality of the eye occasional (7.5%) HP:0100533
92 cognitive impairment occasional (7.5%) HP:0100543
93 thick lower lip vermilion HP:0000179
94 microcephaly HP:0000252
95 macrocephaly HP:0000256
96 coarse facial features HP:0000280
97 epicanthus HP:0000286
98 hypertelorism HP:0000316
99 strabismus HP:0000486
100 cataract HP:0000518
101 iris coloboma HP:0000612
102 syndactyly HP:0001159
103 hand polydactyly HP:0001161
104 intellectual disability HP:0001249
105 seizures HP:0001250
106 heterogeneous HP:0001425
107 somatic mosaicism HP:0001442
108 alopecia HP:0001596
109 abnormality of metabolism/homeostasis HP:0001939
110 cerebral atrophy HP:0002059
111 gray matter heterotopias HP:0002281
112 scoliosis HP:0002650
113 kyphosis HP:0002808
114 macular hypopigmented whorls, streaks, and patches HP:0005593
115 irregularly spaced teeth HP:0006316
116 radial deviation of finger HP:0009466
117 clinodactyly HP:0030084
118 keratitis HP:0000491
119 retinal detachment HP:0000541
120 uveitis HP:0000554
121 microphthalmos HP:0000568
122 retinal hemorrhage HP:0000573
123 optic atrophy HP:0000648
124 hypodontia HP:0000668
125 delayed eruption of teeth HP:0000684
126 hyperkeratosis HP:0000962
127 abnormality of skin pigmentation HP:0001000
128 spasticity HP:0001257
129 x-linked dominant inheritance HP:0001423
130 nail pits HP:0001803
131 thick nail HP:0001805
132 ridged nail HP:0001807
133 eosinophilia HP:0001880
134 nail dysplasia HP:0002164
135 coarse hair HP:0002208
136 fine hair HP:0002213
137 hypoplastic nipples HP:0002557
138 supernumerary nipples HP:0002558
139 kyphoscoliosis HP:0002751
140 hemivertebrae HP:0002937
141 breast hypoplasia HP:0003187
142 short stature HP:0004322
143 atrophic, patchy alopecia HP:0004529
144 supernumerary ribs HP:0005815
145 retinal vascular proliferation HP:0007850
146 sparse hair HP:0008070
147 nail dystrophy HP:0008404
148 erythema HP:0010783
149 scarring HP:0100699
150 breast aplasia HP:0100783

Drugs & Therapeutics for Incontinentia Pigmenti Achromians

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Drug clinical trials:

Search ClinicalTrials for Incontinentia Pigmenti Achromians

Search NIH Clinical Center for Incontinentia Pigmenti Achromians

Inferred drug relations via UMLS61/NDF-RT40:

Genetic Tests for Incontinentia Pigmenti Achromians

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Genetic tests related to Incontinentia Pigmenti Achromians:

id Genetic test Affiliating Genes
1 Incontinentia Pigmenti21 IKBKG
2 Incontinentia Pigmenti Syndrome23

Anatomical Context for Incontinentia Pigmenti Achromians

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MalaCards organs/tissues related to Incontinentia Pigmenti Achromians:

32
Skin, Eye, Brain, Cortex, Testes, Bone, Cerebellum, Heart, Small intestine

Animal Models for Incontinentia Pigmenti Achromians or affiliated genes

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Publications for Incontinentia Pigmenti Achromians

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Articles related to Incontinentia Pigmenti Achromians:

(show all 36)
idTitleAuthorsYear
1
Incontinentia pigmenti achromians of Ito: an ultrastructural study. (16579015)
2006
2
Hemihypertrophy and primary small intestinal lymphangiectasia in incontinentia pigmenti achromians. (15531848)
2004
3
Clinico-neuropathological study of incontinentia pigmenti achromians--an autopsy case. (8747421)
1995
4
Incontinentia pigmenti achromians-like depigmentation in the mother of a baby with typical incontinentia pigmenti. (8024287)
1994
5
Hypomelanosis of Ito (incontinentia pigmenti achromians). (7511121)
1994
6
Incontinentia pigmenti achromians (hypomelanosis of ITO, MIM 146150): further evidence of localization at Xp11. (8322815)
1993
7
Cytogenetic and dermatoglyphic findings in a familial case of hypomelanosis of Ito (incontinentia pigmenti achromians). (1623628)
1992
8
Incontinentia pigmenti achromians (Ito) in a West African. (1644036)
1992
9
Labial talon cusp in a child with incontinentia pigmenti achromians: case report. (1886829)
1991
10
The ocular changes of incontinentia pigmenti achromians (hypomelanosis of Ito). (1890574)
1991
11
Hypomelanosis of Ito (incontinentia pigmenti achromians). Ophthalmological evidence for somatic mosaicism. (2096355)
1990
12
Ocular symptomatology in familial hypomelanosis Ito. Incontinentia pigmenti achromians. (2320353)
1990
13
Hypomelanosis of Ito (incontinentia pigmenti achromians). (3248857)
1988
14
Ito's hypomelanosis (incontinentia pigmenti achromians). A review of four cases. (3709001)
1986
15
Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1. (3464561)
1986
16
Insulin dependent diabetes and goitre in a case of hypomelanosis of Ito (Incontinentia Pigmenti Achromians). (4037692)
1985
17
Congenital cranio-facial dysmorphosis associated with Ito's syndrome (incontinentia pigmenti achromians): a case report. (6498382)
1984
18
Incontinentia pigmenti achromians (Ito). (6847218)
1983
19
Hypomelanosis of Ito (incontinentia pigmenti achromians)--a clinicopathologic study: macrocephaly and gray matter heterotopias. (7202148)
1982
20
Incontinentia pigmenti achromians and morphoea: a case report. (7296961)
1981
21
Ultrastructure of incontinentia pigmenti achromians, with special reference to melanocytes and nerve endings. (7035514)
1981
22
Incontinentia pigmenti achromians. (6113199)
1981
23
Incontinentia pigmenti achromians (Ito). (15462075)
1980
24
Focal cerebral atrophy in incontinentia pigmenti achromians. (7395837)
1980
25
A malformation complex of ectrodactyly, clefting and hypomelanosis of ito (incontinentia pigmenti achromians). (290427)
1979
26
Incontinentia pigmenti achromians as part of a neurocutaneous syndrome: a case report. (553451)
1979
27
Incontinentia pigmenti achromians (Ito's hypomelanosis). (856747)
1977
28
Ultrastructural studies of vitiligo, Vogt-Koyanagi syndrome, and incontinentia pigmenti achromians. (869545)
1977
29
Hypomelanosis of Ito (incontinentia pigmenti achromians): a neurocutaneous syndrome. (830915)
1977
30
Incontinentia pigmenti achromians (hypomelanosis of Ito). (884049)
1977
31
Dental dysplasia in incontinentia pigmenti achromians (Ito). An unusual form. (1062218)
1976
32
Incontinentia pigmenti achromians (Ito). (50700)
1975
33
Incontinentia pigmenti achromians. (1137418)
1975
34
Systematized hypochromic nevus. Incontinentia pigmenti achromians of Ito. (4639251)
1972
35
Incontinentia pigmenti achromians. Multiple cases within a family. (5012145)
1972
36
"Incontinentia pigmenti achromians (Ito)". (6075785)
1967

Variations for Incontinentia Pigmenti Achromians

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UniProtKB/Swiss-Prot genetic disease variations for Incontinentia Pigmenti Achromians:

63
id Symbol AA change Variation ID SNP ID
1IKBKGp.Met407ValVAR_009182
2IKBKGp.Glu57LysVAR_026491rs148695964
3IKBKGp.Arg123TrpVAR_026494rs179363895
4IKBKGp.Ala323ProVAR_042666rs179363865

Clinvar genetic disease variations for Incontinentia Pigmenti Achromians:

7
id Gene Name Type Significance SNP ID Assembly Location
1IKBKGIKBKG, EXON 4-10 DELdeletionPathogenic
2IKBKGIKBKG, 1-BP INS, 1110CinsertionPathogenic
3IKBKGNM_003639.4(IKBKG): c.1219A> G (p.Met407Val)single nucleotide variantPathogenicrs137853322GRCh37Chr X, 153792635: 153792635
4IKBKGIKBKG, 10-BP INS, NT127insertionPathogenic
5IKBKGNM_003639.4(IKBKG): c.184C> T (p.Arg62Ter)single nucleotide variantPathogenicrs137853323GRCh37Chr X, 153780401: 153780401

Expression for genes affiliated with Incontinentia Pigmenti Achromians

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Expression patterns in normal tissues for genes affiliated with Incontinentia Pigmenti Achromians

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Pathways for genes affiliated with Incontinentia Pigmenti Achromians

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Compounds for genes affiliated with Incontinentia Pigmenti Achromians

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GO Terms for genes affiliated with Incontinentia Pigmenti Achromians

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Products for genes affiliated with Incontinentia Pigmenti Achromians

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Sources for Incontinentia Pigmenti Achromians

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet