Human Phenotype Ontology
 

NAMDC Clinical Manifestations of Mitochondrial Diseases

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Update (2016-06-15): The review result is implimented at Mitochondrial Disease Core Symptoms

IDClass Organism Manifestation by NAMDCHPO TermMSeqDR Existing Annotation (Green) &
Your HPO ID Suggestion (Put in Yellow Text Box & Submit)
1Cardiac CardiacexpandAbnormality of the cardiovascular system (HP:0001626) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
2Cardiac Cardiac conduction blockexpandArrhythmia (HP:0011675) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
3Cardiac Dilated cardiomyopathyexpandDilated cardiomyopathy (HP:0001644) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
4Cardiac Hypertrophic cardomyopathyexpandHypertrophic cardiomyopathy (HP:0001639) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
5Cardiac Non-compaction cardiomyopathyexpandNon-compaction cardiomyopathy (HP:0011664) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
6Cardiac Restrictive cardiomyopathyexpandRestrictive cardiomyopathy (HP:0001723) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
7Cardiac Wolff-Parkinson-WhiteexpandWolff-Parkinson-White syndrome (HP:0001716) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
8Constitutional CachexiaexpandCachexia (HP:0004326) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
9Constitutional Chronic fatigueexpandChronic fatigue (HP:0012432) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
10Constitutional Chronic shortness of breathexpandDyspnea (HP:0002094) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
11Constitutional ConstitutionalexpandGrowth abnormality (HP:0001507) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
12Constitutional Exercise intoleranceexpandExercise intolerance (HP:0003546) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
13Constitutional Muscle weakness: diffuseexpandMuscle weakness (HP:0001324) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
14Constitutional Muscle weakness: distalexpandDistal muscle weakness (HP:0002460) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
15Constitutional Muscle weakness: proximalexpandProximal muscle weakness (HP:0003701) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
16Constitutional Short stature (patient¡¯s height is below the 3rd percentile)expandShort stature (HP:0004322) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
17Constitutional Thinness (BMI < 18.5)expand (??) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
18Developmental A. Fine motor delayexpandDelayed fine motor development (HP:0010862) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
19Developmental B. Gross motor delayexpandDelayed gross motor development (HP:0002194) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
20Developmental C. Delayed languageexpandDelayed speech and language development (HP:0000750) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
21Developmental D. Delayed social developmentexpandDelayed social development (HP:0012434) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
22Developmental Delayed development (evidence of at least one of A through F)expandGlobal developmental delay (HP:0001263) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
23Developmental E. Cognitive delayexpandCognitive impairment (HP:0100543) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
24Developmental F. Abnormal results on neuropsychological testexpand (???) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
25Developmental Floppy babyexpandNeonatal hypotonia (HP:0001319) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
26Developmental Growth delayexpandGrowth delay (HP:0001510) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
27Developmental Mental retardationexpandGlobal developmental delay (HP:0001263) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
28Developmental Prolonged pubertal growth spurtexpandDelayed puberty (HP:0000823) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
29Developmental Psychomotor regression (loss of acquired skills)expandPsychomotor deterioration (HP:0002361) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
30Endocrine Diabetes mellitusexpandDiabetes mellitus (HP:0000819) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
31Endocrine EndocrineexpandAbnormality of the endocrine system (HP:0000818) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
32Endocrine Hypogonadotropic hypogonadismexpandHypogonadotrophic hypogonadism (HP:0000044) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
33Endocrine HypoparathyroidismexpandHypogonadism (HP:0000135) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
34Endocrine HypothyroidismexpandHypothyroidism (HP:0000821) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
35Endocrine Other endocrineexpand (??) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
36Gastrointestinal *DysphagiaexpandDysphagia (HP:0002015) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
37Gastrointestinal *Gastrointestinal pseudo-obstructionexpandIntestinal pseudo-obstruction (HP:0004389) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
38Gastrointestinal *GastroparesisexpandGastroparesis (HP:0002578) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
39Gastrointestinal *Intestinal dysmotilityexpandGastrointestinal dysmotility (HP:0002579) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
40Gastrointestinal GastrointestinalexpandAbnormality of the gastrointestinal tract (HP:0011024) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
41Gastrointestinal Gastrointestinal dysmotility (At least one gastrointestinal manifestation marked with an *)expandGastrointestinal dysmotility (HP:0002579) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
42Gastrointestinal Recurrent nausea/vomitingexpandNausea and vomiting (HP:0002017) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
43Hematopoetic HematopoeticexpandAbnormality of blood and blood-forming tissues (HP:0001871) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
44Hematopoetic Sideroblastic anemiaexpandSideroblastic anemia (HP:0001924) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
45Hepatic CirrhosisexpandCirrhosis (HP:0001394) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
46Hepatic HepaticexpandAbnormality of the liver (HP:0001392) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
47Hepatic Hepatic failure (hepatic encephalopathy)expandHepatic encephalopathy (HP:0002480) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
48Hepatic Hepatopathy with steatosis or oncocytic changes by liver biopsyexpandHepatic steatosis (HP:0001397) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
49Miscellaneous Exocrine pancreatic dysfunctionexpandExocrine pancreatic insufficiency (HP:0001738) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
50Miscellaneous Lipomasexpand (??) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
51Muscular DysarthriaexpandDysarthria (HP:0001260) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
52Muscular External ophthalmoparesisexpandStatic ophthalmoparesis (HP:0008507) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
53Muscular Likely HP:0003560 Muscular dystrophyexpandMuscular dystrophy (HP:0003560) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
54Muscular MyoglobinuriaexpandMyoglobinuria (HP:0002913) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
55Muscular MyopathyexpandMyopathy (HP:0003198) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
56Muscular PtosisexpandPtosis (HP:0000508) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
57Muscular RhabdomyolysisexpandRhabdomyolysis (HP:0003201) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
58Neurological Ataxia cerebellarexpandCerebellar ataxia associated with quadrupedal gait (HP:0009878) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
59Neurological Ataxia cerebellarexpandIntermittent cerebellar ataxia (HP:0006862) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
60Neurological Ataxia cerebellarexpandNonprogressive cerebellar ataxia (HP:0002470) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
61Neurological Ataxia cerebellarexpandProgressive cerebellar ataxia (HP:0002073) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
62Neurological Ataxia sensory expandSensory ataxia (HP:0010871) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
63Neurological ChoreaexpandChorea (HP:0002072) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
64Neurological DementiaexpandDementia (HP:0000726) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
65Neurological DystoniaexpandDystonia (HP:0001332) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
66Neurological Encephalopathy (At least one neurological manifestation marked with an *)expandEncephalopathy (HP:0001298) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
67Neurological Headaches non-migraine expandHeadache (HP:0002315) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
68Neurological Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)expandHyperreflexia (HP:0001347) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
69Neurological HypotoniaexpandMuscular hypotonia (HP:0001252) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
70Neurological Migraine HeadachesexpandMigraine (HP:0002076) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
71Neurological MyoclonusexpandMyoclonus (HP:0001336) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
72Neurological NeurologicalexpandAbnormality of the nervous system (HP:0000707) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
73Neurological Neuropathy demyelinatingexpandDemyelinating peripheral neuropathy (HP:0007108) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
74Neurological Neuropathy axonalexpandPeripheral axonal neuropathy (HP:0003477) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
75Neurological OphthalmoparesisexpandOphthalmoparesis (HP:0000597) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
76Neurological Parkinsonism expandParkinsonism (HP:0001300) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
77Neurological Seizures expandSeizures (HP:0001250) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
78Neurological SpasticityexpandSpasticity (HP:0001257) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
79Neurological Strokes or Stroke-like lesions*expandStroke (HP:0001297) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
80Ophthalmologic CataractsexpandCataract (HP:0000518) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
81Ophthalmologic OphthalmologicexpandAbnormality of the eye (HP:0000478) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
82Ophthalmologic Optic neuropathyexpandOptic neuropathy (HP:0001138) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
83Ophthalmologic Pigmentary retinopathyexpandPigmentary retinopathy (HP:0000580) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
84Other Abnormal muscle histology (see Table 2 & 3)expand (??) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
85Other CSF protein > 100 mg/dLexpandIncreased CSF protein (HP:0002922) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
86Other Cytochrome c oxidase (COX or complex IV) deficiency (<20% activity or protein relative to normal reference mean, or >50% COX-negative fibers) in musclexpand??Decreased activity of cytochrome C (HP:0003688) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
87Other Depletion of mtDNA from muscleexpandDepletion of mitochondrial DNA in muscle tissue (HP:000914) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
88Other Diffuse, patchy, or cystic white matter lesions evident on brain MRIexpand?Diffuse leukoencephalopathy (HP:0006994) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
89Other Diffuse, patchy, or cystic white matter lesions evident on brain MRIexpand?Diffuse leukoencephalopathy (HP:0006994) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
90Other Elevated 3-methylglutaconic aciduriaexpand3-Methylglutaconic aciduria (HP:0003535) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
91Other Elevated lactate >2.2mM or pyruvate >0.13 mM in blood or CSFexpandIncreased serum lactate (HP:0002151) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
92Other Elevated lactic acid in blood or CSFexpandIncreased serum lactate (HP:0002151) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
93Other Family history suggesting maternal inheritanceexpandMitochondrial inheritance/?? (HP:0001427) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
94Other Family history suggesting maternal inheritanceexpandMitochondrial inheritance/?? (HP:0001427) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
95Other Lactic acidosisexpandLactic acidosis (HP:0003128) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
96Other Maternally inherited hearing loss or mtDNA mutationexpand??Mitochondrial inheritance (HP:0001427) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
97Other Multiple deletions of mtDNA from muscleexpandMultiple mitochondrial DNA deletions (HP:0003689) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
98Other Muscle biopsy showing COX-negative fibersexpand??Ragged-red muscle fibers (HP:0003200) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
99Other Muscle biopsy showing ragged-red fibersexpandRagged-red muscle fibers (HP:0003200) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
100Other Muscle biopsy showing ragged-red fibersexpandRagged-red muscle fibers (HP:0003200) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
101Other Muscle biopsy showing ragged-red fibers or COX-negative fibersexpandRagged-red muscle fibers (HP:0003200) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
102Other Muscle weakness with ragged-red fibersexpandRagged-red muscle fibers (HP:0003200) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
103Other Neurodevelopmental regression or delayexpandDevelopmental regression (HP:0002376) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
104Other NeutropeniaexpandNeutropenia (HP:0001875) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
105Other Onset age <20expandAdult onset (HP:0003581) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
106Other OphthalmoplegiaexpandOphthalmoplegia (HP:0000602) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
107Other Peripheral neuropathyexpandPeripheral neuropathy (HP:0009830) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
108Other Progressive external opthalmoplegia (PEO)expandProgressive external ophthalmoplegia (HP:0000590) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
109Other Ragged-red and COX-negative fibers in muscleexpandRagged-red muscle fibers (HP:0003200) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
110Other Spontaneous improvement by age 3 yearsexpandAge-dependant penetrance (HP:0003831) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
111Other Symmetric lesions of the basal ganglia and midline brainstem by brain CT, brain MRI (T2-weighted hyperintense lesions), or by autopsy analysis of the expandSymmetric lesions of the basal ganglia (HP:0007039) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
112Otologic OtologicexpandAbnormality of the ear (HP:0000598) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
113Otologic Sensorineural hearing lossexpandSensorineural hearing impairment (HP:0000407) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
114Psychiatric AnxietyexpandAnxiety (HP:0000739) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
115Psychiatric AutismexpandAutism (HP:0000717) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
116Psychiatric Bipolar disorderexpandBipolar affective disorder (HP:0007302) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
117Psychiatric DepressionexpandDepression (HP:0000716) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
118Psychiatric PsychiatricexpandBehavioural/Psychiatric Abnormality (HP:0000708) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
119Renal Focal segmental glomerulosclerosisexpandFocal segmental glomerulosclerosis (HP:0000097) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
120Renal Nephrotic syndromeexpandNephrotic syndrome (HP:0000100 ) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
121Renal Other renalexpand (??) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
122Renal RenalexpandAbnormality of the kidney (HP:0000077) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment:
123Renal Renal tubular acidosisexpandRenal tubular acidosis (HP:0001947) help
Lishuang Shen 2014-04-09 11:33:06: 
 
Colin Phoon Colin Phoon 2017-06-28 08:31:45: 
 
Xiaowu Gai 2014-02-28 16:22:14: 
 
lance Becker lance Becker 2015-05-27 16:52:27: 
 
Sari M Sari M 2016-12-02 02:50:29: 
 
(new user): HPO Term ID:
 Comment: