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Search syndromes by name or gene
Searching for: PIGM
| Syndrome | Synonym | Genes | |
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Incontinentia Pigmenti type 2
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IP2, Bloch-Sulzberger syndrome
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NEMO/IKBKG
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Mast Cell disease, Familial Clustering of
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incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum)
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KIT
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Mulvihill-Smith syndrome
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Progeroid Short Stature with Pigmented Nevi
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Primary Pigmented Nodular Adrenocortical Disease, Familial
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iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2
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PDE11A, PRKAR1A
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Xeroderma Pigmentosum
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incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV
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DDB2, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC
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