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DECIPHER.obo    247 lines (186 with data), 3.4 kB

format-version: 1.0
date: 09:13:2010 09:30
saved-by: nlharris
default-namespace: DECIPHER
remark: Used in place of OMIM for annotating some diseases.
remark: Extracted by Nomi from Prioritized DECIPHER_for_Annotation.csv, Revision 3629, 13 Sep 2010

[Term]
id: DECIPHER:01
name: Wolf-Hirschhorn Syndrome

[Term]
id: DECIPHER:02
name: Cri du Chat Syndrome (5p deletion)

[Term]
id: DECIPHER:03
name: Williams-Beuren Syndrome (WBS)

[Term]
id: DECIPHER:04
name: Angelman syndrome (Type 1)

[Term]
id: DECIPHER:05
name: 

[Term]
id: DECIPHER:06
name: 

[Term]
id: DECIPHER:07
name: Rubinstein-Taybi Syndrome

[Term]
id: DECIPHER:08
name: Smith-Magenis Syndrome

[Term]
id: DECIPHER:09
name: 

[Term]
id: DECIPHER:10
name: 

[Term]
id: DECIPHER:11
name: 

[Term]
id: DECIPHER:12
name: 

[Term]
id: DECIPHER:13
name: 

[Term]
id: DECIPHER:14
name: Prader-Willi syndrome (Type 1)

[Term]
id: DECIPHER:15
name: NF1-microdeletion syndrome

[Term]
id: DECIPHER:16
name: 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)

[Term]
id: DECIPHER:17
name: Sotos syndrome

[Term]
id: DECIPHER:18
name: 1p36 microdeletion syndrome

[Term]
id: DECIPHER:19
name: Potocki-Lupski syndrome (17p11.2 duplication syndrome)

[Term]
id: DECIPHER:20
name: 22q13 deletion syndrome (Phelan-Mcdermid syndrome)

[Term]
id: DECIPHER:21
name: Miller-Dieker syndrome (MDS)

[Term]
id: DECIPHER:22
name: 

[Term]
id: DECIPHER:23
name: AZFa

[Term]
id: DECIPHER:24
name: AZFc

[Term]
id: DECIPHER:25
name: AZFb

[Term]
id: DECIPHER:26
name: AZFb+AZFc

[Term]
id: DECIPHER:27
name: Steroid sulphatase deficiency (STS)

[Term]
id: DECIPHER:28
name: 

[Term]
id: DECIPHER:29
name: Charcot-Marie-Tooth syndrome type 1A (CMT1A)

[Term]
id: DECIPHER:30
name: 

[Term]
id: DECIPHER:31
name: Hereditary Liability to Pressure Palsies (HNPP)

[Term]
id: DECIPHER:32
name: 22q11 duplication syndrome

[Term]
id: DECIPHER:33
name: 

[Term]
id: DECIPHER:34
name: Potocki-Shaffer syndrome

[Term]
id: DECIPHER:35
name: WAGR 11p13 deletion syndrome

[Term]
id: DECIPHER:36
name: 

[Term]
id: DECIPHER:37
name: 3q29 microdeletion syndrome

[Term]
id: DECIPHER:38
name: Pelizaeus-Merzbacher disease

[Term]
id: DECIPHER:39
name: 8p23.1 deletion syndrome

[Term]
id: DECIPHER:40
name: 

[Term]
id: DECIPHER:41
name: 

[Term]
id: DECIPHER:42
name: Cat-Eye Syndrome (Type I)

[Term]
id: DECIPHER:43
name: 7q11.23 duplication syndrome

[Term]
id: DECIPHER:44
name: 2q37 monosomy

[Term]
id: DECIPHER:45
name: Xq28 (MECP2) duplication

[Term]
id: DECIPHER:46
name: Split hand/foot malformation 1 (SHFM1)

[Term]
id: DECIPHER:47
name: RCAD (renal cysts and diabetes)

[Term]
id: DECIPHER:48
name: Early-onset Alzheimer disease with cerebral amyloid angiopathy

[Term]
id: DECIPHER:49
name: Familial Adenomatous Polyposis

[Term]
id: DECIPHER:50
name: 

[Term]
id: DECIPHER:51
name: 2q33.1 deletion syndrome

[Term]
id: DECIPHER:52
name: 9q subtelomeric deletion syndrome

[Term]
id: DECIPHER:53
name: Prader-Willi Syndrome (Type 2)

[Term]
id: DECIPHER:54
name: Angelman syndrome (Type 2)

[Term]
id: DECIPHER:55
name: 

[Term]
id: DECIPHER:56
name: 

[Term]
id: DECIPHER:57
name: 17q21.3 recurrent microdeletion syndrome

[Term]
id: DECIPHER:58
name: Leri-Weill dyschondrostosis (LWD) - SHOX deletion

[Term]
id: DECIPHER:59
name: Adult-onset autosomal dominant leukodystrophy (ADLD)

[Term]
id: DECIPHER:81
name: 15q26 overgrowth syndrome