Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/301072
http://purl.bioontology.org/ontology/OMIM/301072
Preferred Name

NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS
Synonyms
NEDEPH
FERRO-CEREBRO-CUTANEOUS SYNDROME
FCCS
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
NEDEPH
FERRO-CEREBRO-CUTANEOUS SYNDROME
FCCS
prefLabel
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS
Gene Symbol
PIGA
MCAHS2
NEDEPH
PNH1
Scope Statement
Onset in early infancy [MISCELLANEOUS]
Caused by mutation in the phosphatidylinositol glycan anchor biosynthesis class A protein (PIGA, 311770.0016) [MOLECULAR BASIS]
Variable severity [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU012517
http://purl.bioontology.org/ontology/OMIM/MTHU078238
http://purl.bioontology.org/ontology/OMIM/MTHU047747
http://purl.bioontology.org/ontology/OMIM/MTHU001744
http://purl.bioontology.org/ontology/OMIM/MTHU000474
http://purl.bioontology.org/ontology/OMIM/MTHU033558
http://purl.bioontology.org/ontology/OMIM/MTHU019019
http://purl.bioontology.org/ontology/OMIM/MTHU078239
http://purl.bioontology.org/ontology/OMIM/MTHU001954
http://purl.bioontology.org/ontology/OMIM/MTHU007511
http://purl.bioontology.org/ontology/OMIM/MTHU036340
http://purl.bioontology.org/ontology/OMIM/MTHU001050
http://purl.bioontology.org/ontology/OMIM/MTHU000302
http://purl.bioontology.org/ontology/OMIM/MTHU000136
http://purl.bioontology.org/ontology/OMIM/MTHU072242
http://purl.bioontology.org/ontology/OMIM/MTHU033932
http://purl.bioontology.org/ontology/OMIM/MTHU036353
http://purl.bioontology.org/ontology/OMIM/MTHU011118
http://purl.bioontology.org/ontology/OMIM/MTHU052423
http://purl.bioontology.org/ontology/OMIM/MTHU000702
http://purl.bioontology.org/ontology/OMIM/MTHU061611
http://purl.bioontology.org/ontology/OMIM/MTHU000036
http://purl.bioontology.org/ontology/OMIM/MTHU078240
http://purl.bioontology.org/ontology/OMIM/MTHU000655
http://purl.bioontology.org/ontology/OMIM/MTHU036371
http://purl.bioontology.org/ontology/OMIM/MTHU068042
http://purl.bioontology.org/ontology/OMIM/MTHU049263
http://purl.bioontology.org/ontology/OMIM/MTHU000680
http://purl.bioontology.org/ontology/OMIM/MTHU064175
http://purl.bioontology.org/ontology/OMIM/MTHU042911
http://purl.bioontology.org/ontology/OMIM/MTHU026231
http://purl.bioontology.org/ontology/OMIM/MTHU000199
http://purl.bioontology.org/ontology/OMIM/MTHU070479
http://purl.bioontology.org/ontology/OMIM/MTHU002081
http://purl.bioontology.org/ontology/OMIM/MTHU012767
http://purl.bioontology.org/ontology/OMIM/MTHU015980
http://purl.bioontology.org/ontology/OMIM/MTHU000140
http://purl.bioontology.org/ontology/OMIM/MTHU070637
http://purl.bioontology.org/ontology/OMIM/MTHU004222
http://purl.bioontology.org/ontology/OMIM/MTHU012766
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tui
T047
Gene Locus
Xp22.1
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
301072
Semantic type UMLS property
Has inheritance type
cui
C4751570
OMIM Entry Type
3
OMIM MimType Value
pound
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