Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	COAGULATION FACTOR VIII
Synonyms	HEMOPHILIA A, MILD F8 HEMOPHILIA A, SEVERE HEMOPHILIA A FACTOR VIII (EAST HARTFORD) THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT FACTOR VIII FACTOR VIII (OKAYAMA) COAGULATION FACTOR VIIIC, PROCOAGULANT COMPONENT FACTOR VIII POLYMORPHISM F8C
ID	http://purl.bioontology.org/ontology/OMIM/300841
altLabel	HEMOPHILIA A, MILD F8 HEMOPHILIA A, SEVERE HEMOPHILIA A FACTOR VIII (EAST HARTFORD) THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT FACTOR VIII FACTOR VIII (OKAYAMA) COAGULATION FACTOR VIIIC, PROCOAGULANT COMPONENT FACTOR VIII POLYMORPHISM F8C
cui	C0272322 C5676879 C4017565 C0272324 C3890932 C1366370 C4016503 C0019069
Gene Locus	Xq28
Gene Symbol	THPH13 F8C HEMA F8
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/300841.0178 http://purl.bioontology.org/ontology/OMIM/300841.0171 http://purl.bioontology.org/ontology/OMIM/300841.0179 http://purl.bioontology.org/ontology/OMIM/300841.0175 http://purl.bioontology.org/ontology/OMIM/300841.0173 http://purl.bioontology.org/ontology/OMIM/300841.0174 http://purl.bioontology.org/ontology/OMIM/300841.0177 http://purl.bioontology.org/ontology/OMIM/300841.0172 http://purl.bioontology.org/ontology/OMIM/300841.0170 http://purl.bioontology.org/ontology/OMIM/300841.0176 http://purl.bioontology.org/ontology/OMIM/300841.0195 http://purl.bioontology.org/ontology/OMIM/300841.0191 http://purl.bioontology.org/ontology/OMIM/300841.0198 http://purl.bioontology.org/ontology/OMIM/300841.0197 http://purl.bioontology.org/ontology/OMIM/300841.0192 http://purl.bioontology.org/ontology/OMIM/300841.0199 http://purl.bioontology.org/ontology/OMIM/300841.0193 http://purl.bioontology.org/ontology/OMIM/300841.0190 http://purl.bioontology.org/ontology/OMIM/300841.0196 http://purl.bioontology.org/ontology/OMIM/300841.0194 http://purl.bioontology.org/ontology/OMIM/300841.0111 http://purl.bioontology.org/ontology/OMIM/300841.0110 http://purl.bioontology.org/ontology/OMIM/300841.0115 http://purl.bioontology.org/ontology/OMIM/300841.0114 http://purl.bioontology.org/ontology/OMIM/300841.0113 http://purl.bioontology.org/ontology/OMIM/300841.0117 http://purl.bioontology.org/ontology/OMIM/300841.0116 http://purl.bioontology.org/ontology/OMIM/300841.0119 http://purl.bioontology.org/ontology/OMIM/300841.0118 http://purl.bioontology.org/ontology/OMIM/300841.0112 http://purl.bioontology.org/ontology/OMIM/300841.0261 http://purl.bioontology.org/ontology/OMIM/300841.0268 http://purl.bioontology.org/ontology/OMIM/300841.0262 http://purl.bioontology.org/ontology/OMIM/300841.0267 http://purl.bioontology.org/ontology/OMIM/300841.0265 http://purl.bioontology.org/ontology/OMIM/300841.0264 http://purl.bioontology.org/ontology/OMIM/300841.0266 http://purl.bioontology.org/ontology/OMIM/300841.0260 http://purl.bioontology.org/ontology/OMIM/300841.0269 http://purl.bioontology.org/ontology/OMIM/300841.0263 http://purl.bioontology.org/ontology/OMIM/300841.0271 http://purl.bioontology.org/ontology/OMIM/300841.0272 http://purl.bioontology.org/ontology/OMIM/300841.0270 http://purl.bioontology.org/ontology/OMIM/300841.0237 http://purl.bioontology.org/ontology/OMIM/300841.0236 http://purl.bioontology.org/ontology/OMIM/300841.0238 http://purl.bioontology.org/ontology/OMIM/300841.0233 http://purl.bioontology.org/ontology/OMIM/300841.0235 http://purl.bioontology.org/ontology/OMIM/300841.0232 http://purl.bioontology.org/ontology/OMIM/300841.0234 http://purl.bioontology.org/ontology/OMIM/300841.0231 http://purl.bioontology.org/ontology/OMIM/300841.0230 http://purl.bioontology.org/ontology/OMIM/300841.0239 http://purl.bioontology.org/ontology/OMIM/300841.0164 http://purl.bioontology.org/ontology/OMIM/300841.0160 http://purl.bioontology.org/ontology/OMIM/300841.0167 http://purl.bioontology.org/ontology/OMIM/300841.0168 http://purl.bioontology.org/ontology/OMIM/300841.0169 http://purl.bioontology.org/ontology/OMIM/300841.0165 http://purl.bioontology.org/ontology/OMIM/300841.0163 http://purl.bioontology.org/ontology/OMIM/300841.0166 http://purl.bioontology.org/ontology/OMIM/300841.0161 http://purl.bioontology.org/ontology/OMIM/300841.0162 http://purl.bioontology.org/ontology/OMIM/300841.0073 http://purl.bioontology.org/ontology/OMIM/300841.0076 http://purl.bioontology.org/ontology/OMIM/300841.0075 http://purl.bioontology.org/ontology/OMIM/300841.0079 http://purl.bioontology.org/ontology/OMIM/300841.0077 http://purl.bioontology.org/ontology/OMIM/300841.0078 http://purl.bioontology.org/ontology/OMIM/300841.0071 http://purl.bioontology.org/ontology/OMIM/300841.0070 http://purl.bioontology.org/ontology/OMIM/300841.0074 http://purl.bioontology.org/ontology/OMIM/300841.0072 http://purl.bioontology.org/ontology/OMIM/300841.0094 http://purl.bioontology.org/ontology/OMIM/300841.0097 http://purl.bioontology.org/ontology/OMIM/300841.0098 http://purl.bioontology.org/ontology/OMIM/300841.0095 http://purl.bioontology.org/ontology/OMIM/300841.0099 http://purl.bioontology.org/ontology/OMIM/300841.0092 http://purl.bioontology.org/ontology/OMIM/300841.0090 http://purl.bioontology.org/ontology/OMIM/300841.0096 http://purl.bioontology.org/ontology/OMIM/300841.0091 http://purl.bioontology.org/ontology/OMIM/300841.0093 http://purl.bioontology.org/ontology/OMIM/300841.0013 http://purl.bioontology.org/ontology/OMIM/300841.0014 http://purl.bioontology.org/ontology/OMIM/300841.0019 http://purl.bioontology.org/ontology/OMIM/300841.0012 http://purl.bioontology.org/ontology/OMIM/300841.0017 http://purl.bioontology.org/ontology/OMIM/300841.0018 http://purl.bioontology.org/ontology/OMIM/300841.0015 http://purl.bioontology.org/ontology/OMIM/300841.0010 http://purl.bioontology.org/ontology/OMIM/300841.0011 http://purl.bioontology.org/ontology/OMIM/300841.0016 http://purl.bioontology.org/ontology/OMIM/300841.0129 http://purl.bioontology.org/ontology/OMIM/300841.0124 http://purl.bioontology.org/ontology/OMIM/300841.0127 http://purl.bioontology.org/ontology/OMIM/300841.0121 http://purl.bioontology.org/ontology/OMIM/300841.0126 http://purl.bioontology.org/ontology/OMIM/300841.0128 http://purl.bioontology.org/ontology/OMIM/300841.0123 http://purl.bioontology.org/ontology/OMIM/300841.0120 http://purl.bioontology.org/ontology/OMIM/300841.0125 http://purl.bioontology.org/ontology/OMIM/300841.0122 http://purl.bioontology.org/ontology/OMIM/300841.0180 http://purl.bioontology.org/ontology/OMIM/300841.0189 http://purl.bioontology.org/ontology/OMIM/300841.0182 http://purl.bioontology.org/ontology/OMIM/300841.0187 http://purl.bioontology.org/ontology/OMIM/300841.0188 http://purl.bioontology.org/ontology/OMIM/300841.0186 http://purl.bioontology.org/ontology/OMIM/300841.0184 http://purl.bioontology.org/ontology/OMIM/300841.0181 http://purl.bioontology.org/ontology/OMIM/300841.0183 http://purl.bioontology.org/ontology/OMIM/300841.0185 http://purl.bioontology.org/ontology/OMIM/300841.0158 http://purl.bioontology.org/ontology/OMIM/300841.0155 http://purl.bioontology.org/ontology/OMIM/300841.0152 http://purl.bioontology.org/ontology/OMIM/300841.0154 http://purl.bioontology.org/ontology/OMIM/300841.0157 http://purl.bioontology.org/ontology/OMIM/300841.0150 http://purl.bioontology.org/ontology/OMIM/300841.0159 http://purl.bioontology.org/ontology/OMIM/300841.0153 http://purl.bioontology.org/ontology/OMIM/300841.0151 http://purl.bioontology.org/ontology/OMIM/300841.0156 http://purl.bioontology.org/ontology/OMIM/300841.0102 http://purl.bioontology.org/ontology/OMIM/300841.0105 http://purl.bioontology.org/ontology/OMIM/300841.0108 http://purl.bioontology.org/ontology/OMIM/300841.0100 http://purl.bioontology.org/ontology/OMIM/300841.0101 http://purl.bioontology.org/ontology/OMIM/300841.0109 http://purl.bioontology.org/ontology/OMIM/300841.0103 http://purl.bioontology.org/ontology/OMIM/300841.0104 http://purl.bioontology.org/ontology/OMIM/300841.0107 http://purl.bioontology.org/ontology/OMIM/300841.0106 http://purl.bioontology.org/ontology/OMIM/300841.0049 http://purl.bioontology.org/ontology/OMIM/300841.0046 http://purl.bioontology.org/ontology/OMIM/300841.0047 http://purl.bioontology.org/ontology/OMIM/300841.0041 http://purl.bioontology.org/ontology/OMIM/300841.0045 http://purl.bioontology.org/ontology/OMIM/300841.0043 http://purl.bioontology.org/ontology/OMIM/300841.0042 http://purl.bioontology.org/ontology/OMIM/300841.0040 http://purl.bioontology.org/ontology/OMIM/300841.0044 http://purl.bioontology.org/ontology/OMIM/300841.0048 http://purl.bioontology.org/ontology/OMIM/300841.0081 http://purl.bioontology.org/ontology/OMIM/300841.0089 http://purl.bioontology.org/ontology/OMIM/300841.0087 http://purl.bioontology.org/ontology/OMIM/300841.0085 http://purl.bioontology.org/ontology/OMIM/300841.0080 http://purl.bioontology.org/ontology/OMIM/300841.0082 http://purl.bioontology.org/ontology/OMIM/300841.0083 http://purl.bioontology.org/ontology/OMIM/300841.0084 http://purl.bioontology.org/ontology/OMIM/300841.0088 http://purl.bioontology.org/ontology/OMIM/300841.0086 http://purl.bioontology.org/ontology/OMIM/300841.0051 http://purl.bioontology.org/ontology/OMIM/300841.0058 http://purl.bioontology.org/ontology/OMIM/300841.0052 http://purl.bioontology.org/ontology/OMIM/300841.0050 http://purl.bioontology.org/ontology/OMIM/300841.0053 http://purl.bioontology.org/ontology/OMIM/300841.0059 http://purl.bioontology.org/ontology/OMIM/300841.0057 http://purl.bioontology.org/ontology/OMIM/300841.0055 http://purl.bioontology.org/ontology/OMIM/300841.0054 http://purl.bioontology.org/ontology/OMIM/300841.0007 http://purl.bioontology.org/ontology/OMIM/300841.0005 http://purl.bioontology.org/ontology/OMIM/300841.0009 http://purl.bioontology.org/ontology/OMIM/300841.0006 http://purl.bioontology.org/ontology/OMIM/300841.0002 http://purl.bioontology.org/ontology/OMIM/300841.0001 http://purl.bioontology.org/ontology/OMIM/300841.0008 http://purl.bioontology.org/ontology/OMIM/300841.0003 http://purl.bioontology.org/ontology/OMIM/300841.0004 http://purl.bioontology.org/ontology/OMIM/300841.0229 http://purl.bioontology.org/ontology/OMIM/300841.0221 http://purl.bioontology.org/ontology/OMIM/300841.0227 http://purl.bioontology.org/ontology/OMIM/300841.0220 http://purl.bioontology.org/ontology/OMIM/300841.0225 http://purl.bioontology.org/ontology/OMIM/300841.0226 http://purl.bioontology.org/ontology/OMIM/300841.0223 http://purl.bioontology.org/ontology/OMIM/300841.0228 http://purl.bioontology.org/ontology/OMIM/300841.0222 http://purl.bioontology.org/ontology/OMIM/300841.0224 http://purl.bioontology.org/ontology/OMIM/300841.0039 http://purl.bioontology.org/ontology/OMIM/300841.0037 http://purl.bioontology.org/ontology/OMIM/300841.0038 http://purl.bioontology.org/ontology/OMIM/300841.0034 http://purl.bioontology.org/ontology/OMIM/300841.0032 http://purl.bioontology.org/ontology/OMIM/300841.0036 http://purl.bioontology.org/ontology/OMIM/300841.0035 http://purl.bioontology.org/ontology/OMIM/300841.0033 http://purl.bioontology.org/ontology/OMIM/300841.0031 http://purl.bioontology.org/ontology/OMIM/300841.0030 http://purl.bioontology.org/ontology/OMIM/300841.0133 http://purl.bioontology.org/ontology/OMIM/300841.0132 http://purl.bioontology.org/ontology/OMIM/300841.0130 http://purl.bioontology.org/ontology/OMIM/300841.0134 http://purl.bioontology.org/ontology/OMIM/300841.0137 http://purl.bioontology.org/ontology/OMIM/300841.0135 http://purl.bioontology.org/ontology/OMIM/300841.0136 http://purl.bioontology.org/ontology/OMIM/300841.0131 http://purl.bioontology.org/ontology/OMIM/300841.0138 http://purl.bioontology.org/ontology/OMIM/300841.0139 http://purl.bioontology.org/ontology/OMIM/300841.0247 http://purl.bioontology.org/ontology/OMIM/300841.0241 http://purl.bioontology.org/ontology/OMIM/300841.0242 http://purl.bioontology.org/ontology/OMIM/300841.0244 http://purl.bioontology.org/ontology/OMIM/300841.0240 http://purl.bioontology.org/ontology/OMIM/300841.0245 http://purl.bioontology.org/ontology/OMIM/300841.0248 http://purl.bioontology.org/ontology/OMIM/300841.0249 http://purl.bioontology.org/ontology/OMIM/300841.0246 http://purl.bioontology.org/ontology/OMIM/300841.0243 http://purl.bioontology.org/ontology/OMIM/300841.0022 http://purl.bioontology.org/ontology/OMIM/300841.0028 http://purl.bioontology.org/ontology/OMIM/300841.0029 http://purl.bioontology.org/ontology/OMIM/300841.0021 http://purl.bioontology.org/ontology/OMIM/300841.0023 http://purl.bioontology.org/ontology/OMIM/300841.0024 http://purl.bioontology.org/ontology/OMIM/300841.0025 http://purl.bioontology.org/ontology/OMIM/300841.0020 http://purl.bioontology.org/ontology/OMIM/300841.0026 http://purl.bioontology.org/ontology/OMIM/300841.0027 http://purl.bioontology.org/ontology/OMIM/300841.0142 http://purl.bioontology.org/ontology/OMIM/300841.0140 http://purl.bioontology.org/ontology/OMIM/300841.0141 http://purl.bioontology.org/ontology/OMIM/300841.0145 http://purl.bioontology.org/ontology/OMIM/300841.0143 http://purl.bioontology.org/ontology/OMIM/300841.0147 http://purl.bioontology.org/ontology/OMIM/300841.0146 http://purl.bioontology.org/ontology/OMIM/300841.0144 http://purl.bioontology.org/ontology/OMIM/300841.0148 http://purl.bioontology.org/ontology/OMIM/300841.0149 http://purl.bioontology.org/ontology/OMIM/300841.0063 http://purl.bioontology.org/ontology/OMIM/300841.0069 http://purl.bioontology.org/ontology/OMIM/300841.0068 http://purl.bioontology.org/ontology/OMIM/300841.0066 http://purl.bioontology.org/ontology/OMIM/300841.0064 http://purl.bioontology.org/ontology/OMIM/300841.0062 http://purl.bioontology.org/ontology/OMIM/300841.0060 http://purl.bioontology.org/ontology/OMIM/300841.0061 http://purl.bioontology.org/ontology/OMIM/300841.0065 http://purl.bioontology.org/ontology/OMIM/300841.0067 http://purl.bioontology.org/ontology/OMIM/300841.0201 http://purl.bioontology.org/ontology/OMIM/300841.0206 http://purl.bioontology.org/ontology/OMIM/300841.0208 http://purl.bioontology.org/ontology/OMIM/300841.0209 http://purl.bioontology.org/ontology/OMIM/300841.0202 http://purl.bioontology.org/ontology/OMIM/300841.0204 http://purl.bioontology.org/ontology/OMIM/300841.0203 http://purl.bioontology.org/ontology/OMIM/300841.0207 http://purl.bioontology.org/ontology/OMIM/300841.0200 http://purl.bioontology.org/ontology/OMIM/300841.0205 http://purl.bioontology.org/ontology/OMIM/300841.0211 http://purl.bioontology.org/ontology/OMIM/300841.0213 http://purl.bioontology.org/ontology/OMIM/300841.0210 http://purl.bioontology.org/ontology/OMIM/300841.0215 http://purl.bioontology.org/ontology/OMIM/300841.0219 http://purl.bioontology.org/ontology/OMIM/300841.0216 http://purl.bioontology.org/ontology/OMIM/300841.0212 http://purl.bioontology.org/ontology/OMIM/300841.0218 http://purl.bioontology.org/ontology/OMIM/300841.0217 http://purl.bioontology.org/ontology/OMIM/300841.0214 http://purl.bioontology.org/ontology/OMIM/300841.0250 http://purl.bioontology.org/ontology/OMIM/300841.0251 http://purl.bioontology.org/ontology/OMIM/300841.0256 http://purl.bioontology.org/ontology/OMIM/300841.0252 http://purl.bioontology.org/ontology/OMIM/300841.0254 http://purl.bioontology.org/ontology/OMIM/300841.0255 http://purl.bioontology.org/ontology/OMIM/300841.0258 http://purl.bioontology.org/ontology/OMIM/300841.0253 http://purl.bioontology.org/ontology/OMIM/300841.0259 http://purl.bioontology.org/ontology/OMIM/300841.0257
MIMTYPEMEANING	Gene with known sequence
notation	300841
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	COAGULATION FACTOR VIII
tui	T047 T033 T028

Add comment

Add proposal

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display

Create mapping

Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SCTSPA/16872008	SCTSPA	CUI
http://purl.bioontology.org/ontology/SCTSPA/26029002	SCTSPA	CUI
http://purl.bioontology.org/ontology/LNC/LP19702-7	LOINC	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/16872008	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SNMI/DC-63121	SNMI	CUI
http://purl.bioontology.org/ontology/SNMI/DC-63123	SNMI	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/26029002	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/CSP/0438-6751	CRISP	CUI
http://purl.bioontology.org/ontology/ICD10/D66	ICD10	CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000671393	PDQ	CUI
http://purl.bioontology.org/ontology/MDRFRE/10060613	MDRFRE	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001478	NDFRT	CUI
http://purl.bioontology.org/ontology/MDRGER/10010468	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRFRE/10010468	MDRFRE	CUI
http://purl.bioontology.org/ontology/MDRGER/10018938	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRGER/10060612	MDRGER	CUI
http://purl.bioontology.org/ontology/ICD10CM/D66	ICD10CM	CUI
http://purl.bioontology.org/ontology/RCD/D300.	RCD	CUI
http://purl.bioontology.org/ontology/MDRFRE/10060612	MDRFRE	CUI
http://purl.bioontology.org/ontology/MEDDRA/10018938	MEDDRA	CUI
http://purl.bioontology.org/ontology/CSP/0438-6751	CRISP	CUI
http://purl.bioontology.org/ontology/MDRFRE/10018937	MDRFRE	CUI
http://purl.bioontology.org/ontology/SCTSPA/28293008	SCTSPA	CUI
http://purl.bioontology.org/ontology/ICD9CM/286.0	ICD9CM	CUI
http://purl.bioontology.org/ontology/MEDDRA/10060612	MEDDRA	CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000671393	PDQ	CUI
http://purl.bioontology.org/ontology/MDRGER/10060613	MDRGER	CUI
http://purl.bioontology.org/ontology/MEDDRA/10018937	MEDDRA	CUI
http://purl.bioontology.org/ontology/SNMI/DC-63120	SNMI	CUI
http://purl.bioontology.org/ontology/MEDDRA/10010468	MEDDRA	CUI
http://purl.bioontology.org/ontology/MEDDRA/10060613	MEDDRA	CUI
http://purl.bioontology.org/ontology/MESH/D006467	MESH	CUI
http://purl.bioontology.org/ontology/ICD10/D66	ICD10	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/28293008	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MDRGER/10018937	MDRGER	CUI
http://purl.bioontology.org/ontology/RCD/X20ED	RCD	CUI
http://purl.bioontology.org/ontology/MDRFRE/10018938	MDRFRE	CUI
http://purl.bioontology.org/ontology/MSHFRE/D006467	MSHFRE	CUI
http://purl.bioontology.org/ontology/CSP/0437-3199	CRISP	LOOM
http://purl.obolibrary.org/obo/dinto_0928	DINTO	LOOM
http://purl.bioontology.org/ontology/SNMI/F-D7400	SNMI	LOOM
http://purl.uniprot.org/uniprot/P00451	FTC	LOOM
http://purl.bioontology.org/ontology/LNC/LP14702-2	LOINC	LOOM
http://www.orpha.net/ORDO/Orphanet_121677	ORDO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/278910002	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/LNC/MTHU009422	LOINC	LOOM
http://purl.obolibrary.org/obo/NCIT_C16571	BERO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16571	NCIT	LOOM
http://purl.bioontology.org/ontology/CSP/0437-3199	CRISP	LOOM
http://purl.obolibrary.org/obo/PR_000007302	PR	LOOM
http://purl.obolibrary.org/obo/PR_000007302	CCONT	LOOM
http://purl.obolibrary.org/obo/PR_000007302	NIFSTD	LOOM
http://purl.obolibrary.org/obo/PR_000007302	EFO	LOOM
http://purl.obolibrary.org/obo/PR_000007302	OBA	LOOM
http://purl.bioontology.org/ontology/ATC/B02BD02	ATC	LOOM