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Genetic Diseases, X-Linked (D040181)
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Ichthyosis (D007057)
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Skin Diseases, Genetic (D012873)
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Keratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)

       Child Nodes:



 Sister Nodes: 
..expandActinic Prurigo (C566780)
..expandAlbinism (D000417) Child30
..expandAmyloidosis IX (C562643)
..expandAmyloidosis, Cutaneous Bullous (C562644)
..expandAmyloidosis, Primary Cutaneous (C562642)
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..expandDyschromatosis Universalis Hereditaria 2 (C567194)
..expandDYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 (OMIM:615402)
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..expandExfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like (C564309)
..expandFingerprints, Absence of (C565010)
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..expandGerodermia osteodysplastica (C537799)
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..expandHistiocytic Dermatoarthritis (C564183)
..expandHyalinosis, Systemic (D057770)
..expandHyaluronan Metabolism, Defect in (C565742)
..expandIchthyosiform Erythroderma, Congenital (D016113) Child18
..expandIchthyosis Bullosa of Siemens (D053560)
..expandIchthyosis Vulgaris (D016112) Child1
..expandIchthyosis, X-Linked (D016114) Child2
..expandIncontinentia Pigmenti (D007184) Child2
..expandJuvenile Spring Eruption of Ears (C566781)
..expandKeratoderma, Palmoplantar (D007645) Child45
..expandKeratolytic winter erythema (C536155)
..expandKeratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)
..expandKeratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (C566600)
..expandLeukokeratosis, Hereditary Mucosal (D053529)
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..expandXeroderma Pigmentosum (D014983) Child16
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:6658
Name:Keratosis Follicularis Spinulosa Decalvans, X-Linked
Definition:
Alternative IDs:OMIM:308800
ParentIDs:MESH:D007057|MESH:D012873|MESH:D040181
TreeNumbers:C16.131.831.512/C536159 |C16.320.322/C536159 |C16.320.850/C536159 |C16.614.492/C536159 |C17.800.428.333/C536159 |C17.800.804.512/C536159 |C17.800.827/C536159
Synonyms:Keratosis follicularis spinulosa decalvans |Keratosis follicularis spinulosa decalvans cum ophiasi |Kfsdx
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Skin disease
Reference: MedGen: C536159
MeSH: C536159
OMIM: 308800;
MSeqDR LSDB:  
Genes: MBTPS2; SAT1;
Phenotypes
1 HP:0001417X-linked inheritance
2 HP:0001419X-linked recessive inheritance
3 HP:0001597Abnormality of the nail
4 HP:0000498Blepharitis
5 HP:0000509Conjunctivitis
6 HP:0001131Corneal dystrophy
7 HP:0000958Dry skin
8 HP:0008391Dystrophic fingernails
9 HP:0000656Ectropion
10 HP:0001041Facial erythema
11 HP:0007502Follicular hyperkeratosis
12 HP:0025084Folliculitis
13 HP:0001425Heterogeneous
14 HP:0000491Keratitis
15 HP:0002164Nail dysplasia
16 HP:0000982Palmoplantar keratoderma
17 HP:0030054Perifollicular fibrosis
18 HP:0000613Photophobia
19 HP:0004552Scarring alopecia of scalp
20 HP:0000535Sparse and thin eyebrow
21 HP:0000653Sparse eyelashes
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_015884.4(MBTPS2):c.1523A>G (p.Asn508Ser)51360MBTPS2Pathogenicrs587776867RCV000022848|RCV000254794; NMONDO:MONDO:0010637,MedGen:C3887525,OMIM:308800, Orphanet:2340|MedGen:CN517202X2190073621900736AGX:g.21900736A>GClinGen:CA128790,UniProtKB:O43462#VAR_064409,OMIM:300294.0006C0343057 308800 Keratosis pilaris decalvans;
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