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ICD-10
HPO
Compare GWAS
Super Class
Top
Sub Class
Disorders of thyroid gland
Diabetes mellitus
Other disorders of glucose regulation and pancreatic internal secretion
Disorders of other endocrine glands
Malnutrition
Other nutritional deficiencies
Obesity and other hyperalimentation
Metabolic disorders
Endocrine, nutritional and metabolic diseases
Chapter4
Case/Control GWAS
ⓘ
Links
Sex Split
Interactive Plot
Statistics
Case
Control
99225
360981
Top SNP Information
Show Table
Location
SNP
Gene
Ref>Alt
Alt in Case
Alt in Control
Chi-square
P-value
Odds Ratio
chr5:33951693
rs16891982
SLC45A2
G>C
16954
50107
487.3
5.649e-108
1.226
chr5:33958959
rs28777
SLC45A2
A>C
14378
42617
396.2
3.744e-88
1.219
chr5:33955673
rs35391
SLC45A2
C>T
10379
30603
296.7
1.701e-66
1.221
chr5:33955326
rs35390
SLC45A2
A>C
10418
30731
296.5
1.909e-66
1.221
chr5:33951116
rs35397
SLC45A2
T>G
21578
68533
247.3
1.001e-55
1.138
chr16:28995057
rs11859822
SPNS1
T>C
7466
21970
215.2
1.017e-48
1.221
chr16:28954860
rs7203982
-
T>C
7449
21933
213.4
2.51e-48
1.22
chr16:28974658
rs8044999
NFATC2IP
A>G
6242
18203
195.9
1.648e-44
1.231
chr16:28949473
rs2070961
CD19
C>T
5100
14625
186.1
2.292e-42
1.251
chr15:65114484
rs8031690
PIF1
G>A
3170
8550
185.2
3.493e-42
1.329
chr5:35790252
rs6875303
SPEF2
A>G
2872
7778
163.1
2.436e-37
1.323
chr11:61690405
rs12420625
-
T>G
6938
20845
160.1
1.087e-36
1.195
chr16:30455458
rs1133238
SEPHS2
G>A
13487
42692
158.7
2.217e-36
1.137
chr3:4882808
rs1473298
ITPR1
T>G
2649
7121
158.2
2.749e-36
1.332
chr4:188970959
rs61385796
-
C>T
3514
9841
155.5
1.09e-35
1.279
chr2:171380643
rs34020565
MYO3B
T>G
6236
18623
153.5
2.923e-35
1.202
chr2:66725070
rs12995572
MEIS1
G>C
6767
20384
151.9
6.561e-35
1.192
chr11:61095368
rs7397033
DDB1
T>C
3878
11048
148.8
3.229e-34
1.258
chr8:18362799
rs17126680
-
A>G
6804
20560
147.2
7.188e-34
1.188
chr4:38798648
rs5743618
TLR1
C>A
52833
182124
145.0
2.14e-33
1.072
chr1:114377568
rs2476601
PTPN22
G>A
21403
71507
133.2
8.226e-31
1.1
chr1:114303808
rs6679677
-
C>A
21370
71427
131.9
1.608e-30
1.099
chr6:32636866
rs3134996
-
T>A
68470
258371
111.1
5.752e-26
0.9454
chr6:161010118
rs10455872
LPA
A>G
16808
55944
110.9
6.329e-26
1.102
chr6:32620399
rs17843606
-
T>G
73576
276770
108.6
2.025e-25
0.9466
chr6:32634838
rs9274552
HLA-DQB1
C>A
74248
279305
108.2
2.407e-25
0.9468
chr6:32615458
rs17612576
-
A>G
75085
282375
107.4
3.717e-25
0.9473
chr6:32620775
rs17843619
-
A>C
75236
282922
106.3
6.209e-25
0.9475
chr6:32627714
rs1063355
HLA-DQB1
G>T
75483
283796
106.1
6.909e-25
0.9477
chr6:32635809
rs3828790
HLA-DQB1
C>T
73683
276957
106.1
6.856e-25
0.9473
chr6:32613712
rs9273215
HLA-DQA1
A>G
75472
283803
106.1
6.943e-25
0.9477
chr6:32623430
rs9273339
-
A>G
75543
283998
104.8
1.329e-24
0.948
chr6:32612488
rs9273088
HLA-DQA1
C>A
75251
282743
104.2
1.865e-24
0.9481
chr6:32612430
Affx-37072023
HLA-DQA1
C>T
79122
296853
102.9
3.515e-24
0.9488
chr6:160997118
rs74617384
LPA
A>T
16330
54560
101.1
8.557e-24
1.098
chr6:31081989
rs3130977
-
T>C
72471
254906
100.1
1.432e-23
1.054
chr6:31082127
rs3130552
-
G>A
72577
255339
98.86
2.717e-23
1.054
chr6:32667119
rs3135006
-
C>T
45182
172043
97.56
5.231e-23
0.9422
chr6:32583357
rs6931277
-
A>T
38373
132587
97.52
5.326e-23
1.066
chr6:32625869
Affx-28496566
-
C>T
72195
270727
97.35
5.817e-23
0.9488
Associated Phenotypes
ⓘ
Shared SNP phenotypes
No shared SNP phenotypes
ID
Name
Top Correlation
HP: 0000014
Abnormality of the bladder
2/20
HP: 0000015
Bladder diverticulum
2/20
HP: 0000022
Abnormality of male internal genitalia
1/20
HP: 0000032
Abnormality of male external genitalia
3/20
HP: 0000077
Abnormality of the kidney
3/20
HP: 0000078
Abnormality of the genital system
1/20
HP: 0000079
Abnormality of the urinary system
1/20
HP: 0000083
Renal insufficiency
10/20
HP: 0000093
Proteinuria
11/20
HP: 0000112
Nephropathy
11/20
HP: 0000118
Phenotypic abnormality
1/20
HP: 0000119
Abnormality of the genitourinary system
2/20
HP: 0000124
Renal tubular dysfunction
1/20
HP: 0000157
Abnormality of the tongue
6/20
HP: 0000159
Abnormal lip morphology
2/20
HP: 0000168
Abnormality of the gingiva
2/20
HP: 0000230
Gingivitis
3/20
HP: 0000286
Epicanthus
1/20
HP: 0000479
Abnormal retinal morphology
1/20
HP: 0000488
Retinopathy
8/20
HP: 0000492
Abnormal eyelid morphology
3/20
HP: 0000496
Abnormality of eye movement
2/20
HP: 0000509
Conjunctivitis
5/20
HP: 0000517
Abnormality of the lens
10/20
HP: 0000518
Cataract
10/20
HP: 0000519
Developmental cataract
9/20
HP: 0000537
Epicanthus inversus
1/20
HP: 0000546
Retinal degeneration
2/20
HP: 0000549
Abnormal conjugate eye movement
5/20
HP: 0000593
Abnormal anterior chamber morphology
10/20
HP: 0000606
Abnormality of the periorbital region
5/20
HP: 0000729
Autistic behavior
2/20
HP: 0000735
Impaired social interactions
2/20
HP: 0000736
Short attention span
7/20
HP: 0000742
Self-mutilation
1/20
HP: 0000752
Hyperactivity
7/20
HP: 0000756
Agoraphobia
3/20
HP: 0000765
Abnormality of the thorax
1/20
HP: 0000811
Abnormal external genitalia
3/20
HP: 0000828
Abnormality of the parathyroid gland
4/20
HP: 0000831
Insulin-resistant diabetes mellitus
4/20
HP: 0000843
Hyperparathyroidism
7/20
HP: 0000847
Abnormality of renin-angiotensin system
2/20
HP: 0000855
Insulin resistance
5/20
HP: 0000857
Neonatal insulin-dependent diabetes mellitus
3/20
HP: 0000864
Abnormality of the hypothalamus-pituitary axis
2/20
HP: 0000867
Secondary hyperparathyroidism
9/20
HP: 0000944
Abnormality of the metaphysis
2/20
HP: 0000952
Jaundice
3/20
HP: 0000953
Hyperpigmentation of the skin
1/20
HP: 0000958
Dry skin
2/20
HP: 0000961
Cyanosis
1/20
HP: 0000964
Eczema
5/20
HP: 0000988
Skin rash
7/20
HP: 0000995
Melanocytic nevus
3/20
HP: 0001000
Abnormality of skin pigmentation
6/20
HP: 0001009
Telangiectasia
7/20
HP: 0001010
Hypopigmentation of the skin
7/20
HP: 0001028
Hemangioma
1/20
HP: 0001063
Acrocyanosis
1/20
HP: 0001098
Abnormal fundus morphology
1/20
HP: 0001155
Abnormality of the hand
4/20
HP: 0001167
Abnormality of finger
4/20
HP: 0001172
Abnormal thumb morphology
1/20
HP: 0001197
Abnormality of prenatal development or birth
1/20
HP: 0001231
Abnormal fingernail morphology
7/20
HP: 0001252
Muscular hypotonia
2/20
HP: 0001264
Spastic diplegia
1/20
HP: 0001278
Orthostatic hypotension
1/20
HP: 0001289
Confusion
4/20
HP: 0001311
Abnormal nervous system electrophysiology
3/20
HP: 0001337
Tremor
3/20
HP: 0001347
Hyperreflexia
1/20
HP: 0001367
Abnormal joint morphology
2/20
HP: 0001369
Arthritis
5/20
HP: 0001396
Cholestasis
1/20
HP: 0001510
Growth delay
1/20
HP: 0001511
Intrauterine growth retardation
2/20
HP: 0001518
Small for gestational age
4/20
HP: 0001595
Abnormal hair morphology
5/20
HP: 0001600
Abnormality of the larynx
1/20
HP: 0001609
Hoarse voice
1/20
HP: 0001627
Abnormal heart morphology
3/20
HP: 0001637
Abnormal myocardium morphology
3/20
HP: 0001638
Cardiomyopathy
4/20
HP: 0001639
Hypertrophic cardiomyopathy
3/20
HP: 0001760
Abnormality of the foot
2/20
HP: 0001889
Megaloblastic anemia
1/20
HP: 0001891
Iron deficiency anemia
5/20
HP: 0001931
Hypochromic anemia
5/20
HP: 0001935
Microcytic anemia
8/20
HP: 0001939
Abnormality of metabolism/homeostasis
2/20
HP: 0001941
Acidosis
2/20
HP: 0001943
Hypoglycemia
4/20
HP: 0001947
Renal tubular acidosis
1/20
HP: 0001952
Glucose intolerance
10/20
HP: 0001972
Macrocytic anemia
1/20
HP: 0001977
Abnormal thrombosis
2/20
HP: 0001998
Neonatal hypoglycemia
7/20
HP: 0001999
Abnormal facial shape
2/20
HP: 0002011
Morphological central nervous system abnormality
2/20
HP: 0002013
Vomiting
5/20
HP: 0002014
Diarrhea
2/20
HP: 0002017
Nausea and vomiting
5/20
HP: 0002087
Abnormality of the upper respiratory tract
5/20
HP: 0002107
Pneumothorax
4/20
HP: 0002110
Bronchiectasis
2/20
HP: 0002123
Generalized myoclonic seizure
1/20
HP: 0002155
Hypertriglyceridemia
2/20
HP: 0002169
Clonus
3/20
HP: 0002170
Intracranial hemorrhage
1/20
HP: 0002202
Pleural effusion
1/20
HP: 0002242
Abnormal intestine morphology
2/20
HP: 0002244
Abnormality of the small intestine
2/20
HP: 0002353
EEG abnormality
5/20
HP: 0002360
Sleep disturbance
15/20
HP: 0002644
Abnormality of pelvic girdle bone morphology
5/20
HP: 0002664
Neoplasm
2/20
HP: 0002686
Prenatal maternal abnormality
2/20
HP: 0002748
Rickets
12/20
HP: 0002749
Osteomalacia
9/20
HP: 0002781
Upper airway obstruction
2/20
HP: 0002813
Abnormality of limb bone morphology
3/20
HP: 0002814
Abnormality of the lower limb
5/20
HP: 0002815
Abnormality of the knee
2/20
HP: 0002817
Abnormality of the upper limb
5/20
HP: 0002893
Pituitary adenoma
7/20
HP: 0002912
Methylmalonic acidemia
3/20
HP: 0002919
Ketonuria
1/20
HP: 0002979
Bowing of the legs
1/20
HP: 0002981
Abnormality of the calf
2/20
HP: 0003019
Abnormality of the wrist
4/20
HP: 0003026
Short long bone
5/20
HP: 0003037
Enlarged joints
5/20
HP: 0003074
Hyperglycemia
1/20
HP: 0003077
Hyperlipidemia
2/20
HP: 0003107
Abnormal circulating cholesterol concentration
2/20
HP: 0003110
Abnormality of urine homeostasis
4/20
HP: 0003119
Abnormal circulating lipid concentration
2/20
HP: 0003124
Hypercholesterolemia
4/20
HP: 0003228
Hypernatremia
1/20
HP: 0003270
Abdominal distention
3/20
HP: 0003272
Abnormality of the hip bone
4/20
HP: 0003351
Decreased circulating renin level
2/20
HP: 0003549
Abnormality of connective tissue
2/20
HP: 0003764
Nevus
2/20
HP: 0003774
Stage 5 chronic kidney disease
5/20
HP: 0004097
Deviation of finger
1/20
HP: 0004302
Functional motor deficit
1/20
HP: 0004324
Increased body weight
1/20
HP: 0004327
Abnormal vitreous humor morphology
4/20
HP: 0004328
Abnormal anterior eye segment morphology
9/20
HP: 0004329
Abnormal posterior eye segment morphology
1/20
HP: 0004340
Abnormality of vitamin B metabolism
3/20
HP: 0004341
Abnormality of vitamin B12 metabolism
2/20
HP: 0004360
Abnormality of acid-base homeostasis
1/20
HP: 0004364
Abnormal circulating nitrogen compound concentration
3/20
HP: 0004370
Abnormality of temperature regulation
5/20
HP: 0004372
Reduced consciousness/confusion
4/20
HP: 0004378
Abnormality of the anus
2/20
HP: 0004418
Thrombophlebitis
2/20
HP: 0004469
Chronic bronchitis
2/20
HP: 0004798
Recurrent infection of the gastrointestinal tract
5/20
HP: 0004900
Severe lactic acidosis
3/20
HP: 0004904
Maturity-onset diabetes of the young
11/20
HP: 0004905
Low levels of vitamin A
11/20
HP: 0004924
Abnormal oral glucose tolerance
8/20
HP: 0004936
Venous thrombosis
2/20
HP: 0005202
Helicobacter pylori infection
5/20
HP: 0005208
Secretory diarrhea
1/20
HP: 0005607
Abnormal tracheobronchial morphology
5/20
HP: 0005622
Broad long bones
1/20
HP: 0005918
Abnormal finger phalanx morphology
5/20
HP: 0005922
Abnormal hand morphology
4/20
HP: 0005972
Respiratory acidosis
4/20
HP: 0005978
Type II diabetes mellitus
10/20
HP: 0006279
Beta-cell dysfunction
11/20
HP: 0006476
Abnormality of the pancreatic islet cells
9/20
HP: 0006487
Bowing of the long bones
1/20
HP: 0006573
Acute hepatic steatosis
2/20
HP: 0006753
Neoplasm of the stomach
2/20
HP: 0006846
Acute encephalopathy
1/20
HP: 0006919
Abnormal aggressive, impulsive or violent behavior
2/20
HP: 0007018
Attention deficit hyperactivity disorder
7/20
HP: 0007023
Antenatal intracerebral hemorrhage
1/20
HP: 0007359
Focal-onset seizure
1/20
HP: 0007378
Neoplasm of the gastrointestinal tract
2/20
HP: 0007400
Irregular hyperpigmentation
1/20
HP: 0007513
Generalized hypopigmentation
7/20
HP: 0007609
Hypoproteinemic edema
1/20
HP: 0007663
Reduced visual acuity
2/20
HP: 0007700
Ocular anterior segment dysgenesis
10/20
HP: 0007962
Speckled corneal dystrophy
1/20
HP: 0008046
Abnormal retinal vascular morphology
6/20
HP: 0008047
Abnormality of the vasculature of the eye
8/20
HP: 0008058
Aplasia/Hypoplasia of the optic nerve
1/20
HP: 0008069
Neoplasm of the skin
4/20
HP: 0008070
Sparse hair
1/20
HP: 0008071
Maternal hypertension
2/20
HP: 0008188
Thyroid dysgenesis
1/20
HP: 0008255
Transient neonatal diabetes mellitus
3/20
HP: 0008279
Transient hyperlipidemia
2/20
HP: 0008372
Abnormality of vitamin A metabolism
11/20
HP: 0008391
Dystrophic fingernails
7/20
HP: 0008404
Nail dystrophy
7/20
HP: 0009115
Aplasia/hypoplasia involving the skeleton
2/20
HP: 0009484
Deviation of the hand or of fingers of the hand
1/20
HP: 0009800
Maternal diabetes
5/20
HP: 0009810
Abnormality of upper limb joint
5/20
HP: 0009815
Aplasia/hypoplasia of the extremities
4/20
HP: 0009887
Abnormality of hair pigmentation
7/20
HP: 0010280
Stomatitis
1/20
HP: 0010461
Abnormality of the male genitalia
3/20
HP: 0010588
Premature epimetaphyseal fusion
3/20
HP: 0010609
Skin tags
3/20
HP: 0010935
Abnormality of the upper urinary tract
3/20
HP: 0010936
Abnormality of the lower urinary tract
3/20
HP: 0010972
Anemia of inadequate production
4/20
HP: 0010979
Abnormality of lipoprotein cholesterol concentration
2/20
HP: 0010980
Hyperlipoproteinemia
3/20
HP: 0010995
Abnormal circulating dicarboxylic acid concentration
3/20
HP: 0011014
Abnormal glucose homeostasis
9/20
HP: 0011015
Abnormal blood glucose concentration
3/20
HP: 0011028
Abnormality of blood circulation
2/20
HP: 0011029
Internal hemorrhage
2/20
HP: 0011036
Abnormality of renal excretion
1/20
HP: 0011037
Decreased urine output
2/20
HP: 0011121
Abnormality of skin morphology
3/20
HP: 0011122
Abnormality of skin physiology
2/20
HP: 0011123
Inflammatory abnormality of the skin
2/20
HP: 0011138
Abnormality of skin adnexa morphology
5/20
HP: 0011170
Generalized myoclonic-atonic seizure
1/20
HP: 0011182
Interictal epileptiform activity
5/20
HP: 0011198
EEG with generalized epileptiform discharges
5/20
HP: 0011276
Vascular skin abnormality
2/20
HP: 0011277
Abnormality of the urinary system physiology
2/20
HP: 0011297
Abnormal digit morphology
5/20
HP: 0011355
Localized skin lesion
3/20
HP: 0011357
obsolete Abnormality of hair density
1/20
HP: 0011423
Hyperchloremia
1/20
HP: 0011436
Abnormal maternal serum screening
4/20
HP: 0011736
Primary hyperaldosteronism
2/20
HP: 0011747
Abnormality of the anterior pituitary
2/20
HP: 0011750
Neoplasm of the anterior pituitary
7/20
HP: 0011767
Abnormality of the parathyroid physiology
8/20
HP: 0011793
Neoplasm by anatomical site
2/20
HP: 0011799
Abnormality of facial soft tissue
2/20
HP: 0011804
Abnormal muscle physiology
2/20
HP: 0011844
Abnormal appendicular skeleton morphology
2/20
HP: 0011885
Hemorrhage of the eye
2/20
HP: 0011986
Ectopic ossification
6/20
HP: 0011998
Postprandial hyperglycemia
1/20
HP: 0012093
Abnormality of endocrine pancreas physiology
9/20
HP: 0012131
Abnormal number of erythroid precursors
1/20
HP: 0012184
Increased HDL cholesterol concentration
5/20
HP: 0012188
Hyperemesis gravidarum
4/20
HP: 0012211
Abnormal renal physiology
3/20
HP: 0012243
Abnormal reproductive system morphology
1/20
HP: 0012271
Episodic upper airway obstruction
1/20
HP: 0012330
Pyelonephritis
1/20
HP: 0012337
Abnormal homeostasis
12/20
HP: 0012338
Abnormal energy expenditure
1/20
HP: 0012339
Increased resting energy expenditure
1/20
HP: 0012384
Rhinitis
1/20
HP: 0012387
Bronchitis
2/20
HP: 0012415
Abnormal blood gas level
1/20
HP: 0012433
Abnormal social behavior
2/20
HP: 0012443
Abnormality of brain morphology
3/20
HP: 0012452
Restless legs
11/20
HP: 0012503
Abnormality of the pituitary gland
2/20
HP: 0012619
Multiple bladder diverticula
2/20
HP: 0012622
Chronic kidney disease
10/20
HP: 0012732
Anorectal anomaly
2/20
HP: 0012759
Neurodevelopmental abnormality
2/20
HP: 0020110
Bone fracture
3/20
HP: 0020129
Abnormal urine protein level
10/20
HP: 0025015
Abnormal vascular morphology
1/20
HP: 0025065
Abnormal mean corpuscular volume
7/20
HP: 0025066
Decreased mean corpuscular volume
7/20
HP: 0025337
Red eye
2/20
HP: 0025356
Psychomotor retardation
2/20
HP: 0025373
Interictal EEG abnormality
5/20
HP: 0025426
Abnormal bronchus morphology
5/20
HP: 0025461
Abnormal cell morphology
3/20
HP: 0025487
Abnormality of bladder morphology
2/20
HP: 0030053
Stiff skin
2/20
HP: 0030178
Abnormality of central nervous system electrophysiology
3/20
HP: 0030764
Ochronosis
4/20
HP: 0030841
Toe pain
4/20
HP: 0030972
Abnormal systemic blood pressure
3/20
HP: 0031094
Abnormal breast physiology
2/20
HP: 0031258
Delirium
5/20
HP: 0031492
Epithelial neoplasm
6/20
HP: 0031493
Glandular cell neoplasm
7/20
HP: 0031495
Mucinous neoplasm
7/20
HP: 0031496
Mucinous cystic neoplasm of the pancreas
2/20
HP: 0031499
Appendiceal mucinous neoplasm
2/20
HP: 0031888
Abnormal HDL cholesterol concentration
5/20
HP: 0032178
Flaky paint dermatosis
1/20
HP: 0032180
Abnormal circulating metabolite concentration
4/20
HP: 0032186
Anal neoplasm
1/20
HP: 0032187
Anal intraepithelial neoplasia
1/20
HP: 0032245
Abnormal metabolism
2/20
HP: 0032368
Acidemia
3/20
HP: 0032536
Increased number of lymph nodes
2/20
HP: 0040064
Abnormality of limbs
4/20
HP: 0040068
Abnormality of limb bone
3/20
HP: 0040069
Abnormal lower limb bone morphology
5/20
HP: 0040070
Abnormal upper limb bone morphology
2/20
HP: 0040084
Abnormal circulating renin
2/20
HP: 0040126
Abnormal vitamin B12 level
3/20
HP: 0040270
Impaired glucose tolerance
11/20
HP: 0040277
Neoplasm of the pituitary gland
5/20
HP: 0045060
Aplasia/hypoplasia involving bones of the extremities
4/20
HP: 0100028
Ectopic thyroid
1/20
HP: 0100261
Abnormal tendon morphology
1/20
HP: 0100491
Abnormality of lower limb joint
5/20
HP: 0100502
Vitamin B12 deficiency
3/20
HP: 0100508
Abnormality of vitamin metabolism
7/20
HP: 0100511
Abnormality of vitamin D metabolism
12/20
HP: 0100512
Low levels of vitamin D
12/20
HP: 0100520
Oliguria
3/20
HP: 0100568
Neoplasm of the endocrine system
5/20
HP: 0100570
Carcinoid tumor
2/20
HP: 0100574
Biliary tract neoplasm
2/20
HP: 0100575
Neoplasm of the gallbladder
2/20
HP: 0100585
Telangiectasia of the skin
7/20
HP: 0100603
Toxemia of pregnancy
2/20
HP: 0100651
Type I diabetes mellitus
3/20
HP: 0100659
Abnormality of the cerebral vasculature
2/20
HP: 0100684
Salivary gland neoplasm
1/20
HP: 0100716
Self-injurious behavior
2/20
HP: 0100742
Vascular neoplasm
1/20
HP: 0100749
Chest pain
6/20
HP: 0100767
Abnormality of the placenta
1/20
HP: 0100785
Insomnia
13/20
HP: 0100825
Cheilitis
3/20
HP: 0100829
Galactorrhea
1/20
HP: 0100833
Neoplasm of the small intestine
3/20
HP: 0100851
Abnormal emotion/affect behavior
3/20
HP: 0100852
Abnormal fear/anxiety-related behavior
2/20
HP: 0100872
Abnormality of the plantar skin of foot
1/20
HP: 0200143
Megaloblastic erythroid hyperplasia
1/20
HP: 0500015
Abnormal cardiac test
2/20
ID
Name
Top Correlation
HP: 0000002
Abnormality of body height
0/20
HP: 0000008
Abnormal morphology of female internal genitalia
0/20
HP: 0000025
Functional abnormality of male internal genitalia
0/20
HP: 0000035
Abnormal testis morphology
0/20
HP: 0000044
Hypogonadotropic hypogonadism
0/20
HP: 0000045
Abnormality of the scrotum
0/20
HP: 0000062
Ambiguous genitalia
0/20
HP: 0000080
Abnormality of reproductive system physiology
0/20
HP: 0000103
Polyuria
0/20
HP: 0000121
Nephrocalcinosis
0/20
HP: 0000123
Nephritis
0/20
HP: 0000127
Renal salt wasting
0/20
HP: 0000130
Abnormality of the uterus
0/20
HP: 0000133
Gonadal dysgenesis
0/20
HP: 0000135
Hypogonadism
0/20
HP: 0000137
Abnormality of the ovary
0/20
HP: 0000138
Ovarian cyst
0/20
HP: 0000140
Abnormality of the menstrual cycle
0/20
HP: 0000141
Amenorrhea
0/20
HP: 0000144
Decreased fertility
0/20
HP: 0000147
Polycystic ovaries
0/20
HP: 0000152
Abnormality of head or neck
0/20
HP: 0000153
Abnormality of the mouth
0/20
HP: 0000163
Abnormal oral cavity morphology
0/20
HP: 0000164
Abnormality of the dentition
0/20
HP: 0000206
Glossitis
0/20
HP: 0000234
Abnormality of the head
0/20
HP: 0000235
Abnormality of the fontanelles or cranial sutures
0/20
HP: 0000245
Abnormality of the paranasal sinuses
0/20
HP: 0000246
Sinusitis
0/20
HP: 0000271
Abnormality of the face
0/20
HP: 0000277
Abnormality of the mandible
0/20
HP: 0000295
Doll-like facies
0/20
HP: 0000301
Abnormality of facial musculature
0/20
HP: 0000315
Abnormality of the orbital region
0/20
HP: 0000356
Abnormality of the outer ear
0/20
HP: 0000359
Abnormality of the inner ear
0/20
HP: 0000364
Hearing abnormality
0/20
HP: 0000365
Hearing impairment
0/20
HP: 0000366
Abnormality of the nose
0/20
HP: 0000370
Abnormality of the middle ear
0/20
HP: 0000377
Abnormality of the pinna
0/20
HP: 0000405
Conductive hearing impairment
0/20
HP: 0000407
Sensorineural hearing impairment
0/20
HP: 0000421
Epistaxis
0/20
HP: 0000433
Abnormality of the nasal mucosa
0/20
HP: 0000464
Abnormality of the neck
0/20
HP: 0000478
Abnormality of the eye
0/20
HP: 0000481
Abnormal cornea morphology
0/20
HP: 0000482
Microcornea
0/20
HP: 0000491
Keratitis
0/20
HP: 0000502
Abnormal conjunctiva morphology
0/20
HP: 0000504
Abnormality of vision
0/20
HP: 0000505
Visual impairment
0/20
HP: 0000511
Vertical supranuclear gaze palsy
0/20
HP: 0000522
Alacrima
0/20
HP: 0000525
Abnormality iris morphology
0/20
HP: 0000528
Anophthalmia
0/20
HP: 0000551
Color vision defect
0/20
HP: 0000553
Abnormal uvea morphology
0/20
HP: 0000572
Visual loss
0/20
HP: 0000580
Pigmentary retinopathy
0/20
HP: 0000581
Blepharophimosis
0/20
HP: 0000582
Upslanted palpebral fissure
0/20
HP: 0000587
Abnormality of the optic nerve
0/20
HP: 0000597
Ophthalmoparesis
0/20
HP: 0000598
Abnormality of the ear
0/20
HP: 0000600
Abnormality of the pharynx
0/20
HP: 0000602
Ophthalmoplegia
0/20
HP: 0000605
Supranuclear gaze palsy
0/20
HP: 0000609
Optic nerve hypoplasia
0/20
HP: 0000618
Blindness
0/20
HP: 0000623
Supranuclear ophthalmoplegia
0/20
HP: 0000630
Abnormal retinal artery morphology
0/20
HP: 0000632
Lacrimation abnormality
0/20
HP: 0000633
Decreased lacrimation
0/20
HP: 0000639
Nystagmus
0/20
HP: 0000649
Abnormality of visual evoked potentials
0/20
HP: 0000662
Nyctalopia
0/20
HP: 0000707
Abnormality of the nervous system
0/20
HP: 0000708
Behavioral abnormality
0/20
HP: 0000719
Inappropriate behavior
0/20
HP: 0000743
Frontal release signs
0/20
HP: 0000750
Delayed speech and language development
0/20
HP: 0000759
Abnormal peripheral nervous system morphology
0/20
HP: 0000766
Abnormality of the sternum
0/20
HP: 0000769
Abnormality of the breast
0/20
HP: 0000772
Abnormality of the ribs
0/20
HP: 0000777
Abnormality of the thymus
0/20
HP: 0000778
Hypoplasia of the thymus
0/20
HP: 0000787
Nephrolithiasis
0/20
HP: 0000789
Infertility
0/20
HP: 0000791
Uric acid nephrolithiasis
0/20
HP: 0000798
Oligospermia
0/20
HP: 0000804
Xanthine nephrolithiasis
0/20
HP: 0000812
Abnormal internal genitalia
0/20
HP: 0000825
Hyperinsulinemic hypoglycemia
0/20
HP: 0000826
Precocious puberty
0/20
HP: 0000829
Hypoparathyroidism
0/20
HP: 0000830
Anterior hypopituitarism
0/20
HP: 0000832
Primary hypothyroidism
0/20
HP: 0000834
Abnormality of the adrenal glands
0/20
HP: 0000835
Adrenal hypoplasia
0/20
HP: 0000836
Hyperthyroidism
0/20
HP: 0000842
Hyperinsulinemia
0/20
HP: 0000845
Growth hormone excess
0/20
HP: 0000846
Adrenal insufficiency
0/20
HP: 0000849
Adrenocortical abnormality
0/20
HP: 0000851
Congenital hypothyroidism
0/20
HP: 0000852
Pseudohypoparathyroidism
0/20
HP: 0000853
Goiter
0/20
HP: 0000854
Thyroid adenoma
0/20
HP: 0000858
Irregular menstruation
0/20
HP: 0000859
Hyperaldosteronism
0/20
HP: 0000863
Central diabetes insipidus
0/20
HP: 0000866
Euthyroid multinodular goiter
0/20
HP: 0000869
Secondary amenorrhea
0/20
HP: 0000870
Increased circulating prolactin concentration
0/20
HP: 0000871
Panhypopituitarism
0/20
HP: 0000872
Hashimoto thyroiditis
0/20
HP: 0000873
Diabetes insipidus
0/20
HP: 0000876
Oligomenorrhea
0/20
HP: 0000885
Broad ribs
0/20
HP: 0000919
Abnormality of the costochondral junction
0/20
HP: 0000924
Abnormality of the skeletal system
0/20
HP: 0000925
Abnormality of the vertebral column
0/20
HP: 0000926
Platyspondyly
0/20
HP: 0000929
Abnormal skull morphology
0/20
HP: 0000940
Abnormal diaphysis morphology
0/20
HP: 0000943
Dysostosis multiplex
0/20
HP: 0000951
Abnormality of the skin
0/20
HP: 0000956
Acanthosis nigricans
0/20
HP: 0000962
Hyperkeratosis
0/20
HP: 0000965
Cutis marmorata
0/20
HP: 0000969
Edema
0/20
HP: 0000972
Palmoplantar hyperkeratosis
0/20
HP: 0000975
Hyperhidrosis
0/20
HP: 0000976
Eczematoid dermatitis
0/20
HP: 0000978
Bruising susceptibility
0/20
HP: 0000991
Xanthomatosis
0/20
HP: 0000992
Cutaneous photosensitivity
0/20
HP: 0000998
Hypertrichosis
0/20
HP: 0001001
Abnormality of subcutaneous fat tissue
0/20
HP: 0001005
Dermatological manifestations of systemic disorders
0/20
HP: 0001007
Hirsutism
0/20
HP: 0001013
Eruptive xanthomas
0/20
HP: 0001014
Angiokeratoma
0/20
HP: 0001022
Albinism
0/20
HP: 0001030
Fragile skin
0/20
HP: 0001034
Hypermelanotic macule
0/20
HP: 0001046
Intermittent jaundice
0/20
HP: 0001061
Acne
0/20
HP: 0001069
Episodic hyperhidrosis
0/20
HP: 0001072
Thickened skin
0/20
HP: 0001080
Biliary tract abnormality
0/20
HP: 0001081
Cholelithiasis
0/20
HP: 0001096
Keratoconjunctivitis
0/20
HP: 0001097
Keratoconjunctivitis sicca
0/20
HP: 0001105
Retinal atrophy
0/20
HP: 0001120
Abnormality of corneal size
0/20
HP: 0001131
Corneal dystrophy
0/20
HP: 0001136
Retinal arteriolar tortuosity
0/20
HP: 0001149
Lattice corneal dystrophy
0/20
HP: 0001163
Abnormality of the metacarpal bones
0/20
HP: 0001194
Abnormalities of placenta or umbilical cord
0/20
HP: 0001249
Intellectual disability
0/20
HP: 0001250
Seizure
0/20
HP: 0001251
Ataxia
0/20
HP: 0001254
Lethargy
0/20
HP: 0001257
Spasticity
0/20
HP: 0001259
Coma
0/20
HP: 0001263
Global developmental delay
0/20
HP: 0001265
Hyporeflexia
0/20
HP: 0001266
Choreoathetosis
0/20
HP: 0001268
Mental deterioration
0/20
HP: 0001270
Motor delay
0/20
HP: 0001271
Polyneuropathy
0/20
HP: 0001276
Hypertonia
0/20
HP: 0001281
Tetany
0/20
HP: 0001288
Gait disturbance
0/20
HP: 0001291
Abnormal cranial nerve morphology
0/20
HP: 0001297
Stroke
0/20
HP: 0001298
Encephalopathy
0/20
HP: 0001308
Tongue fasciculations
0/20
HP: 0001315
Reduced tendon reflexes
0/20
HP: 0001317
Abnormal cerebellum morphology
0/20
HP: 0001319
Neonatal hypotonia
0/20
HP: 0001324
Muscle weakness
0/20
HP: 0001325
Hypoglycemic coma
0/20
HP: 0001331
Absent septum pellucidum
0/20
HP: 0001342
Cerebral hemorrhage
0/20
HP: 0001343
Kernicterus
0/20
HP: 0001392
Abnormality of the liver
0/20
HP: 0001394
Cirrhosis
0/20
HP: 0001397
Hepatic steatosis
0/20
HP: 0001433
Hepatosplenomegaly
0/20
HP: 0001437
Abnormality of the musculature of the lower limbs
0/20
HP: 0001438
Abnormality of abdomen morphology
0/20
HP: 0001507
Growth abnormality
0/20
HP: 0001508
Failure to thrive
0/20
HP: 0001513
Obesity
0/20
HP: 0001538
Protuberant abdomen
0/20
HP: 0001547
Abnormality of the rib cage
0/20
HP: 0001572
Macrodontia
0/20
HP: 0001574
Abnormality of the integument
0/20
HP: 0001580
Pigmented micronodular adrenocortical disease
0/20
HP: 0001581
Recurrent skin infections
0/20
HP: 0001596
Alopecia
0/20
HP: 0001597
Abnormality of the nail
0/20
HP: 0001605
Vocal cord paralysis
0/20
HP: 0001608
Abnormality of the voice
0/20
HP: 0001626
Abnormality of the cardiovascular system
0/20
HP: 0001644
Dilated cardiomyopathy
0/20
HP: 0001670
Asymmetric septal hypertrophy
0/20
HP: 0001678
Atrioventricular block
0/20
HP: 0001679
Abnormal aortic morphology
0/20
HP: 0001709
Third degree atrioventricular block
0/20
HP: 0001717
Coronary artery calcification
0/20
HP: 0001723
Restrictive cardiomyopathy
0/20
HP: 0001732
Abnormality of the pancreas
0/20
HP: 0001733
Pancreatitis
0/20
HP: 0001743
Abnormality of the spleen
0/20
HP: 0001744
Splenomegaly
0/20
HP: 0001751
Vestibular dysfunction
0/20
HP: 0001807
Ridged nail
0/20
HP: 0001854
Podagra
0/20
HP: 0001871
Abnormality of blood and blood-forming tissues
0/20
HP: 0001874
Abnormality of neutrophils
0/20
HP: 0001875
Neutropenia
0/20
HP: 0001877
Abnormal erythrocyte morphology
0/20
HP: 0001878
Hemolytic anemia
0/20
HP: 0001881
Abnormal leukocyte morphology
0/20
HP: 0001892
Abnormal bleeding
0/20
HP: 0001903
Anemia
0/20
HP: 0001908
Hypoplastic anemia
0/20
HP: 0001911
Abnormal granulocyte morphology
0/20
HP: 0001917
Renal amyloidosis
0/20
HP: 0001924
Sideroblastic anemia
0/20
HP: 0001927
Acanthocytosis
0/20
HP: 0001928
Abnormality of coagulation
0/20
HP: 0001930
Nonspherocytic hemolytic anemia
0/20
HP: 0001933
Subcutaneous hemorrhage
0/20
HP: 0001942
Metabolic acidosis
0/20
HP: 0001944
Dehydration
0/20
HP: 0001946
Ketosis
0/20
HP: 0001948
Alkalosis
0/20
HP: 0001949
Hypokalemic alkalosis
0/20
HP: 0001950
Respiratory alkalosis
0/20
HP: 0001953
Diabetic ketoacidosis
0/20
HP: 0001959
Polydipsia
0/20
HP: 0001960
Hypokalemic metabolic alkalosis
0/20
HP: 0001963
Abnormal speech discrimination
0/20
HP: 0001974
Leukocytosis
0/20
HP: 0001980
Megaloblastic bone marrow
0/20
HP: 0001984
Intolerance to protein
0/20
HP: 0001986
Hypertonic dehydration
0/20
HP: 0001987
Hyperammonemia
0/20
HP: 0001988
Recurrent hypoglycemia
0/20
HP: 0001992
Organic aciduria
0/20
HP: 0001993
Ketoacidosis
0/20
HP: 0001997
Gout
0/20
HP: 0002012
Abnormality of the abdominal organs
0/20
HP: 0002024
Malabsorption
0/20
HP: 0002028
Chronic diarrhea
0/20
HP: 0002031
Abnormal esophagus morphology
0/20
HP: 0002039
Anorexia
0/20
HP: 0002041
Intractable diarrhea
0/20
HP: 0002044
Zollinger-Ellison syndrome
0/20
HP: 0002046
Heat intolerance
0/20
HP: 0002059
Cerebral atrophy
0/20
HP: 0002060
Abnormal cerebral morphology
0/20
HP: 0002072
Chorea
0/20
HP: 0002073
Progressive cerebellar ataxia
0/20
HP: 0002084
Encephalocele
0/20
HP: 0002086
Abnormality of the respiratory system
0/20
HP: 0002088
Abnormal lung morphology
0/20
HP: 0002090
Pneumonia
0/20
HP: 0002103
Abnormality of the pleura
0/20
HP: 0002104
Apnea
0/20
HP: 0002105
Hemoptysis
0/20
HP: 0002134
Abnormality of the basal ganglia
0/20
HP: 0002135
Basal ganglia calcification
0/20
HP: 0002140
Ischemic stroke
0/20
HP: 0002143
Abnormality of the spinal cord
0/20
HP: 0002148
Hypophosphatemia
0/20
HP: 0002149
Hyperuricemia
0/20
HP: 0002153
Hyperkalemia
0/20
HP: 0002154
Hyperglycinemia
0/20
HP: 0002157
Azotemia
0/20
HP: 0002164
Nail dysplasia
0/20
HP: 0002167
Neurological speech impairment
0/20
HP: 0002181
Cerebral edema
0/20
HP: 0002186
Apraxia
0/20
HP: 0002187
Intellectual disability, profound
0/20
HP: 0002197
Generalized-onset seizure
0/20
HP: 0002199
Hypocalcemic seizures
0/20
HP: 0002205
Recurrent respiratory infections
0/20
HP: 0002208
Coarse hair
0/20
HP: 0002213
Fine hair
0/20
HP: 0002236
Frontal upsweep of hair
0/20
HP: 0002240
Hepatomegaly
0/20
HP: 0002246
Abnormality of the duodenum
0/20
HP: 0002270
Abnormality of the autonomic nervous system
0/20
HP: 0002298
Absent hair
0/20
HP: 0002345
Action tremor
0/20
HP: 0002346
Head tremor
0/20
HP: 0002355
Difficulty walking
0/20
HP: 0002380
Fasciculations
0/20
HP: 0002401
Stroke-like episode
0/20
HP: 0002445
Tetraplegia
0/20
HP: 0002448
Progressive encephalopathy
0/20
HP: 0002474
Expressive language delay
0/20
HP: 0002480
Hepatic encephalopathy
0/20
HP: 0002493
Upper motor neuron dysfunction
0/20
HP: 0002497
Spastic ataxia
0/20
HP: 0002500
Abnormality of the cerebral white matter
0/20
HP: 0002510
Spastic tetraplegia
0/20
HP: 0002514
Cerebral calcification
0/20
HP: 0002538
Abnormality of the cerebral cortex
0/20
HP: 0002577
Abnormality of the stomach
0/20
HP: 0002579
Gastrointestinal dysmotility
0/20
HP: 0002588
Duodenal ulcer
0/20
HP: 0002593
Intestinal lymphangiectasia
0/20
HP: 0002595
Ileus
0/20
HP: 0002597
Abnormality of the vasculature
0/20
HP: 0002615
Hypotension
0/20
HP: 0002621
Atherosclerosis
0/20
HP: 0002630
Fat malabsorption
0/20
HP: 0002634
Arteriosclerosis
0/20
HP: 0002637
Cerebral ischemia
0/20
HP: 0002650
Scoliosis
0/20
HP: 0002683
Abnormality of the calvaria
0/20
HP: 0002715
Abnormality of the immune system
0/20
HP: 0002716
Lymphadenopathy
0/20
HP: 0002717
Adrenal overactivity
0/20
HP: 0002719
Recurrent infections
0/20
HP: 0002720
Decreased circulating IgA level
0/20
HP: 0002721
Immunodeficiency
0/20
HP: 0002728
Chronic mucocutaneous candidiasis
0/20
HP: 0002733
Abnormality of the lymph nodes
0/20
HP: 0002763
Abnormal cartilage morphology
0/20
HP: 0002783
Recurrent lower respiratory tract infections
0/20
HP: 0002789
Tachypnea
0/20
HP: 0002791
Hypoventilation
0/20
HP: 0002793
Abnormal pattern of respiration
0/20
HP: 0002795
Functional respiratory abnormality
0/20
HP: 0002797
Osteolysis
0/20
HP: 0002808
Kyphosis
0/20
HP: 0002840
Lymphadenitis
0/20
HP: 0002841
Recurrent fungal infections
0/20
HP: 0002857
Genu valgum
0/20
HP: 0002867
Abnormality of the ilium
0/20
HP: 0002877
Nocturnal hypoventilation
0/20
HP: 0002885
Medulloblastoma
0/20
HP: 0002894
Neoplasm of the pancreas
0/20
HP: 0002896
Neoplasm of the liver
0/20
HP: 0002897
Parathyroid adenoma
0/20
HP: 0002900
Hypokalemia
0/20
HP: 0002901
Hypocalcemia
0/20
HP: 0002902
Hyponatremia
0/20
HP: 0002904
Hyperbilirubinemia
0/20
HP: 0002905
Hyperphosphatemia
0/20
HP: 0002908
Conjugated hyperbilirubinemia
0/20
HP: 0002909
Generalized aminoaciduria
0/20
HP: 0002917
Hypomagnesemia
0/20
HP: 0002918
Hypermagnesemia
0/20
HP: 0002921
Abnormality of the cerebrospinal fluid
0/20
HP: 0002926
Abnormality of thyroid physiology
0/20
HP: 0002942
Thoracic kyphosis
0/20
HP: 0002960
Autoimmunity
0/20
HP: 0002963
Abnormal delayed hypersensitivity skin test
0/20
HP: 0002965
Cutaneous anergy
0/20
HP: 0002977
Aplasia/Hypoplasia involving the central nervous system
0/20
HP: 0003011
Abnormality of the musculature
0/20
HP: 0003072
Hypercalcemia
0/20
HP: 0003111
Abnormal blood ion concentration
0/20
HP: 0003112
Abnormality of serum amino acid level
0/20
HP: 0003113
Hypochloremia
0/20
HP: 0003116
Abnormal echocardiogram
0/20
HP: 0003117
Abnormal circulating hormone level
0/20
HP: 0003118
Increased circulating cortisol level
0/20
HP: 0003126
Low-molecular-weight proteinuria
0/20
HP: 0003127
Hypocalciuria
0/20
HP: 0003128
Lactic acidosis
0/20
HP: 0003130
Abnormal peripheral myelination
0/20
HP: 0003134
Abnormality of peripheral nerve conduction
0/20
HP: 0003142
Excessive purine production
0/20
HP: 0003146
Hypocholesterolemia
0/20
HP: 0003149
Hyperuricosuria
0/20
HP: 0003150
Glutaric aciduria
0/20
HP: 0003165
Elevated circulating parathyroid hormone level
0/20
HP: 0003198
Myopathy
0/20
HP: 0003199
Decreased muscle mass
0/20
HP: 0003201
Rhabdomyolysis
0/20
HP: 0003202
Skeletal muscle atrophy
0/20
HP: 0003207
Arterial calcification
0/20
HP: 0003215
Dicarboxylic aciduria
0/20
HP: 0003233
Decreased HDL cholesterol concentration
0/20
HP: 0003236
Elevated serum creatine kinase
0/20
HP: 0003251
Male infertility
0/20
HP: 0003256
Abnormality of the coagulation cascade
0/20
HP: 0003265
Neonatal hyperbilirubinemia
0/20
HP: 0003271
Visceromegaly
0/20
HP: 0003287
Abnormality of mitochondrial metabolism
0/20
HP: 0003310
Abnormality of the odontoid process
0/20
HP: 0003312
Abnormal form of the vertebral bodies
0/20
HP: 0003330
Abnormal bone structure
0/20
HP: 0003355
Aminoaciduria
0/20
HP: 0003394
Muscle spasm
0/20
HP: 0003452
Increased serum iron
0/20
HP: 0003468
Abnormal vertebral morphology
0/20
HP: 0003470
Paralysis
0/20
HP: 0003474
Sensory impairment
0/20
HP: 0003495
GM2-ganglioside accumulation
0/20
HP: 0003537
Hypouricemia
0/20
HP: 0003541
Urinary glycosaminoglycan excretion
0/20
HP: 0003563
Decreased LDL cholesterol concentration
0/20
HP: 0003573
Increased total bilirubin
0/20
HP: 0003613
Antiphospholipid antibody positivity
0/20
HP: 0003643
Sulfite oxidase deficiency
0/20
HP: 0003712
Skeletal muscle hypertrophy
0/20
HP: 0003756
Skeletal myopathy
0/20
HP: 0003758
Reduced subcutaneous adipose tissue
0/20
HP: 0003761
Calcinosis
0/20
HP: 0003768
Periodic paralysis
0/20
HP: 0003808
Abnormal muscle tone
0/20
HP: 0004297
Abnormality of the biliary system
0/20
HP: 0004303
Abnormal muscle fiber morphology
0/20
HP: 0004305
Involuntary movements
0/20
HP: 0004306
Abnormal endocardium morphology
0/20
HP: 0004311
Abnormal macrophage morphology
0/20
HP: 0004313
Decreased antibody level in blood
0/20
HP: 0004319
Decreased circulating aldosterone level
0/20
HP: 0004322
Short stature
0/20
HP: 0004323
Abnormality of body weight
0/20
HP: 0004325
Decreased body weight
0/20
HP: 0004332
Abnormal lymphocyte morphology
0/20
HP: 0004337
Abnormality of amino acid metabolism
0/20
HP: 0004338
Abnormal circulating aromatic amino acid concentration
0/20
HP: 0004339
Abnormal circulating sulfur amino acid concentration
0/20
HP: 0004343
Abnormality of glycosphingolipid metabolism
0/20
HP: 0004345
Ganglioside accumulation
0/20
HP: 0004348
Abnormality of bone mineral density
0/20
HP: 0004349
Reduced bone mineral density
0/20
HP: 0004352
Abnormal circulating purine concentration
0/20
HP: 0004354
Abnormal circulating carboxylic acid concentration
0/20
HP: 0004363
Abnormal circulating calcium concentration
0/20
HP: 0004368
Increased purine level
0/20
HP: 0004369
Decreased purine level
0/20
HP: 0004375
Neoplasm of the nervous system
0/20
HP: 0004385
Protracted diarrhea
0/20
HP: 0004395
Malnutrition
0/20
HP: 0004396
Poor appetite
0/20
HP: 0004398
Peptic ulcer
0/20
HP: 0004401
Meconium ileus
0/20
HP: 0004416
Precocious atherosclerosis
0/20
HP: 0004430
Severe combined immunodeficiency
0/20
HP: 0004433
Secretory IgA deficiency
0/20
HP: 0004444
Spherocytosis
0/20
HP: 0004447
Poikilocytosis
0/20
HP: 0004565
Severe platyspondyly
0/20
HP: 0004568
Beaking of vertebral bodies
0/20
HP: 0004690
Thickened Achilles tendon
0/20
HP: 0004789
Lactose intolerance
0/20
HP: 0004796
Gastrointestinal obstruction
0/20
HP: 0004870
Chronic hemolytic anemia
0/20
HP: 0004906
Hypernatremic dehydration
0/20
HP: 0004914
Recurrent infantile hypoglycemia
0/20
HP: 0004915
Impairment of galactose metabolism
0/20
HP: 0004919
Galactose intolerance
0/20
HP: 0004921
Abnormal magnesium concentration
0/20
HP: 0004934
Vascular calcification
0/20
HP: 0004962
Thoracic aorta calcification
0/20
HP: 0004963
Calcification of the aorta
0/20
HP: 0005103
Calcification of the auricular cartilage
0/20
HP: 0005109
Abnormality of the Achilles tendon
0/20
HP: 0005150
Abnormal atrioventricular conduction
0/20
HP: 0005162
Left ventricular dysfunction
0/20
HP: 0005203
Spontaneous esophageal perforation
0/20
HP: 0005213
Pancreatic calcification
0/20
HP: 0005214
Intestinal obstruction
0/20
HP: 0005264
Abnormality of the gallbladder
0/20
HP: 0005303
Aortic arch calcification
0/20
HP: 0005359
Aplasia of the thymus
0/20
HP: 0005368
Abnormality of humoral immunity
0/20
HP: 0005372
Abnormality of B cell physiology
0/20
HP: 0005387
Combined immunodeficiency
0/20
HP: 0005521
Disseminated intravascular coagulation
0/20
HP: 0005522
Pyridoxine-responsive sideroblastic anemia
0/20
HP: 0005561
Abnormality of bone marrow cell morphology
0/20
HP: 0005571
Increased renal tubular phosphate reabsorption
0/20
HP: 0005599
Hypopigmentation of hair
0/20
HP: 0005912
Biliary atresia
0/20
HP: 0005914
Aplasia/Hypoplasia involving the metacarpal bones
0/20
HP: 0005916
Abnormal metacarpal morphology
0/20
HP: 0005927
Aplasia/hypoplasia involving bones of the hand
0/20
HP: 0005930
Abnormality of epiphysis morphology
0/20
HP: 0005973
Fructose intolerance
0/20
HP: 0005977
Hypochloremic metabolic alkalosis
0/20
HP: 0005987
Multinodular goiter
0/20
HP: 0005994
Nodular goiter
0/20
HP: 0006482
Abnormality of dental morphology
0/20
HP: 0006496
Aplasia/hypoplasia involving bones of the upper limbs
0/20
HP: 0006504
obsolete Anomaly of the limb diaphyses morphology
0/20
HP: 0006532
Recurrent pneumonia
0/20
HP: 0006561
Lipid accumulation in hepatocytes
0/20
HP: 0006577
Macronodular cirrhosis
0/20
HP: 0006579
Prolonged neonatal jaundice
0/20
HP: 0006704
Abnormal coronary artery morphology
0/20
HP: 0006722
Small intestine carcinoid
0/20
HP: 0006723
Intestinal carcinoid
0/20
HP: 0006744
Adrenocortical carcinoma
0/20
HP: 0006780
Parathyroid carcinoma
0/20
HP: 0006824
Cranial nerve paralysis
0/20
HP: 0006888
Meningoencephalocele
0/20
HP: 0007006
Dorsal column degeneration
0/20
HP: 0007098
Paroxysmal choreoathetosis
0/20
HP: 0007108
Demyelinating peripheral neuropathy
0/20
HP: 0007133
Progressive peripheral neuropathy
0/20
HP: 0007141
Sensorimotor neuropathy
0/20
HP: 0007178
Motor polyneuropathy
0/20
HP: 0007185
Loss of consciousness
0/20
HP: 0007269
Spinal muscular atrophy
0/20
HP: 0007326
Progressive choreoathetosis
0/20
HP: 0007367
Atrophy/Degeneration affecting the central nervous system
0/20
HP: 0007369
Atrophy/Degeneration affecting the cerebrum
0/20
HP: 0007375
Abnormality of the septum pellucidum
0/20
HP: 0007379
Neoplasm of the genitourinary tract
0/20
HP: 0007380
Facial telangiectasia
0/20
HP: 0007430
Generalized edema
0/20
HP: 0007440
Generalized hyperpigmentation
0/20
HP: 0007468
Perifollicular hyperkeratosis
0/20
HP: 0007502
Follicular hyperkeratosis
0/20
HP: 0007550
Hypohidrosis or hyperhidrosis
0/20
HP: 0007556
Plantar hyperkeratosis
0/20
HP: 0007670
Abnormal vestibulo-ocular reflex
0/20
HP: 0007703
Abnormality of retinal pigmentation
0/20
HP: 0007722
Retinal pigment epithelial atrophy
0/20
HP: 0007791
Patchy atrophy of the retinal pigment epithelium
0/20
HP: 0007817
Horizontal supranuclear gaze palsy
0/20
HP: 0007819
Presenile cataracts
0/20
HP: 0007957
Corneal opacity
0/20
HP: 0008043
Retinal arteriolar constriction
0/20
HP: 0008049
Abnormality of the extraocular muscles
0/20
HP: 0008050
Abnormality of the palpebral fissures
0/20
HP: 0008056
Aplasia/Hypoplasia affecting the eye
0/20
HP: 0008057
Aplasia/Hypoplasia affecting the fundus
0/20
HP: 0008064
Ichthyosis
0/20
HP: 0008151
Prolonged prothrombin time
0/20
HP: 0008155
Mucopolysacchariduria
0/20
HP: 0008158
Hyperapobetalipoproteinemia
0/20
HP: 0008181
Abetalipoproteinemia
0/20
HP: 0008182
Adrenocortical hypoplasia
0/20
HP: 0008198
Congenital hypoparathyroidism
0/20
HP: 0008200
Primary hyperparathyroidism
0/20
HP: 0008207
Primary adrenal insufficiency
0/20
HP: 0008208
Parathyroid hyperplasia
0/20
HP: 0008209
Premature ovarian insufficiency
0/20
HP: 0008221
Adrenal hyperplasia
0/20
HP: 0008223
Compensated hypothyroidism
0/20
HP: 0008231
Macronodular adrenal hyperplasia
0/20
HP: 0008242
Pseudohypoaldosteronism
0/20
HP: 0008244
Congenital adrenal hypoplasia
0/20
HP: 0008245
Pituitary hypothyroidism
0/20
HP: 0008249
Thyroid hyperplasia
0/20
HP: 0008256
Adrenocortical adenoma
0/20
HP: 0008259
Adrenocorticotropin receptor defect
0/20
HP: 0008261
Pancreatic islet cell adenoma
0/20
HP: 0008282
Unconjugated hyperbilirubinemia
0/20
HP: 0008288
Nonketotic hyperglycinemia
0/20
HP: 0008322
Abnormal mitochondrial morphology
0/20
HP: 0008326
Reduced circulating vitamin B6 level
0/20
HP: 0008373
Puberty and gonadal disorders
0/20
HP: 0008430
Anterior beaking of lumbar vertebrae
0/20
HP: 0008518
Aplasia/Hypoplasia involving the vertebral column
0/20
HP: 0008527
Congenital sensorineural hearing impairment
0/20
HP: 0008542
Low-frequency hearing loss
0/20
HP: 0008598
Mild conductive hearing impairment
0/20
HP: 0008669
Abnormal spermatogenesis
0/20
HP: 0008720
Primary testicular failure
0/20
HP: 0008757
Unilateral vocal cord paralysis
0/20
HP: 0009025
Increased connective tissue
0/20
HP: 0009059
Congenital generalized lipodystrophy
0/20
HP: 0009064
Generalized lipodystrophy
0/20
HP: 0009067
Progressive spinal muscular atrophy
0/20
HP: 0009121
Abnormal axial skeleton morphology
0/20
HP: 0009122
Aplasia/hypoplasia affecting bones of the axial skeleton
0/20
HP: 0009124
Abnormal adipose tissue morphology
0/20
HP: 0009125
Lipodystrophy
0/20
HP: 0009126
Increased adipose tissue
0/20
HP: 0009127
Abnormality of the musculature of the limbs
0/20
HP: 0009145
Abnormal cerebral artery morphology
0/20
HP: 0009794
Branchial anomaly
0/20
HP: 0009795
Branchial fistula
0/20
HP: 0009798
Euthyroid goiter
0/20
HP: 0009806
Nephrogenic diabetes insipidus
0/20
HP: 0009830
Peripheral neuropathy
0/20
HP: 0009888
Abnormality of secondary sexual hair
0/20
HP: 0010049
Short metacarpal
0/20
HP: 0010286
Abnormal salivary gland morphology
0/20
HP: 0010460
Abnormality of the female genitalia
0/20
HP: 0010513
Pituitary calcification
0/20
HP: 0010514
Hyperpituitarism
0/20
HP: 0010515
Aplasia/Hypoplasia of the thymus
0/20
HP: 0010516
Thymus hyperplasia
0/20
HP: 0010535
Sleep apnea
0/20
HP: 0010544
Vertical nystagmus
0/20
HP: 0010546
Muscle fibrillation
0/20
HP: 0010549
Weakness due to upper motor neuron dysfunction
0/20
HP: 0010550
Paraplegia
0/20
HP: 0010551
Paraplegia/paraparesis
0/20
HP: 0010576
Intracranial cystic lesion
0/20
HP: 0010628
Facial palsy
0/20
HP: 0010637
Conjunctival amyloidosis
0/20
HP: 0010662
Abnormality of the diencephalon
0/20
HP: 0010674
Abnormality of the curvature of the vertebral column
0/20
HP: 0010676
Mechanical ileus
0/20
HP: 0010701
Abnormal immunoglobulin level
0/20
HP: 0010719
Abnormality of hair texture
0/20
HP: 0010720
Abnormal hair pattern
0/20
HP: 0010721
Abnormal hair whorl
0/20
HP: 0010726
Prominent corneal nerve fibers
0/20
HP: 0010765
Palmar hyperkeratosis
0/20
HP: 0010766
Ectopic calcification
0/20
HP: 0010783
Erythema
0/20
HP: 0010787
Genital neoplasm
0/20
HP: 0010827
Abnormality of the seventh cranial nerve
0/20
HP: 0010831
Impaired proprioception
0/20
HP: 0010837
Decreased serum ceruloplasmin
0/20
HP: 0010871
Sensory ataxia
0/20
HP: 0010874
Tendon xanthomatosis
0/20
HP: 0010876
Abnormal circulating protein level
0/20
HP: 0010894
Abnormal circulating serine family amino acid concentration
0/20
HP: 0010895
Abnormal circulating glycine concentration
0/20
HP: 0010917
Abnormal circulating tyrosine concentration
0/20
HP: 0010927
Abnormal blood inorganic cation concentration
0/20
HP: 0010929
Abnormal blood cation concentration
0/20
HP: 0010930
Abnormal blood monovalent inorganic cation concentration
0/20
HP: 0010931
Abnormal blood sodium concentration
0/20
HP: 0010932
Abnormal circulating nucleobase concentration
0/20
HP: 0010968
Abnormality of liposaccharide metabolism
0/20
HP: 0010969
Abnormality of glycolipid metabolism
0/20
HP: 0010974
Abnormal myeloid leukocyte morphology
0/20
HP: 0010977
Abnormal phagocytosis
0/20
HP: 0010978
Abnormality of immune system physiology
0/20
HP: 0010981
Hypolipoproteinemia
0/20
HP: 0010987
Abnormal cellular immune system morphology
0/20
HP: 0010990
Abnormality of the common coagulation pathway
0/20
HP: 0010993
Abnormality of the cerebral subcortex
0/20
HP: 0011004
Abnormal systemic arterial morphology
0/20
HP: 0011006
Abnormal morphology of the musculature of the neck
0/20
HP: 0011013
Abnormal circulating carbohydrate concentration
0/20
HP: 0011017
Abnormal cellular physiology
0/20
HP: 0011021
Abnormality of circulating enzyme level
0/20
HP: 0011024
Abnormality of the gastrointestinal tract
0/20
HP: 0011025
Abnormal cardiovascular system physiology
0/20
HP: 0011030
Abnormal blood transition element cation concentration
0/20
HP: 0011031
Abnormality of iron homeostasis
0/20
HP: 0011032
Abnormality of fluid regulation
0/20
HP: 0011033
Impairment of fructose metabolism
0/20
HP: 0011034
Amyloidosis
0/20
HP: 0011038
Abnormality of renal resorption
0/20
HP: 0011042
Abnormal blood potassium concentration
0/20
HP: 0011061
Abnormality of dental structure
0/20
HP: 0011073
Abnormality of dental color
0/20
HP: 0011098
Speech apraxia
0/20
HP: 0011104
Abnormality of blood volume homeostasis
0/20
HP: 0011105
Hypervolemia
0/20
HP: 0011106
Hypovolemia
0/20
HP: 0011124
Abnormality of epidermal morphology
0/20
HP: 0011126
Nephroptosis
0/20
HP: 0011145
Symptomatic seizures
0/20
HP: 0011153
Focal motor seizure
0/20
HP: 0011280
Abnormality of urine calcium concentration
0/20
HP: 0011282
Abnormality of hindbrain morphology
0/20
HP: 0011283
Abnormality of the metencephalon
0/20
HP: 0011314
Abnormality of long bone morphology
0/20
HP: 0011328
Abnormality of fontanelles
0/20
HP: 0011329
Abnormality of cranial sutures
0/20
HP: 0011354
Generalized abnormality of skin
0/20
HP: 0011356
Regional abnormality of skin
0/20
HP: 0011359
Dry hair
0/20
HP: 0011361
Congenital abnormal hair pattern
0/20
HP: 0011362
Abnormal hair quantity
0/20
HP: 0011368
Epidermal thickening
0/20
HP: 0011370
Recurrent cutaneous fungal infections
0/20
HP: 0011389
Functional abnormality of the inner ear
0/20
HP: 0011397
Abnormality of the dorsal column of the spinal cord
0/20
HP: 0011415
Calcified placenta
0/20
HP: 0011422
Abnormal blood chloride concentration
0/20
HP: 0011442
Abnormal central motor function
0/20
HP: 0011443
Abnormality of coordination
0/20
HP: 0011446
Abnormality of higher mental function
0/20
HP: 0011452
Functional abnormality of the middle ear
0/20
HP: 0011458
Abdominal symptom
0/20
HP: 0011472
Abnormality of small intestinal villus morphology
0/20
HP: 0011473
Villous atrophy
0/20
HP: 0011477
Upbeat nystagmus
0/20
HP: 0011492
Abnormality of corneal stroma
0/20
HP: 0011495
Abnormal corneal epithelium morphology
0/20
HP: 0011714
Libman-Sacks lesions
0/20
HP: 0011731
Abnormality of circulating cortisol level
0/20
HP: 0011732
Abnormality of adrenal morphology
0/20
HP: 0011733
Abnormality of adrenal physiology
0/20
HP: 0011734
Central adrenal insufficiency
0/20
HP: 0011737
Corticotropin-releasing hormone deficient adrenal insufficiency
0/20
HP: 0011742
Ectopic adrenal gland
0/20
HP: 0011748
Adrenocorticotropic hormone deficiency
0/20
HP: 0011751
Abnormality of the posterior pituitary
0/20
HP: 0011753
Posterior pituitary dysgenesis
0/20
HP: 0011755
Ectopic posterior pituitary
0/20
HP: 0011766
Abnormality of the parathyroid morphology
0/20
HP: 0011768
Parathyroid dysgenesis
0/20
HP: 0011769
Ectopic parathyroid
0/20
HP: 0011770
Tertiary hyperparathyroidism
0/20
HP: 0011771
Autoimmune hypoparathyroidism
0/20
HP: 0011772
Abnormality of thyroid morphology
0/20
HP: 0011773
Uninodular goiter
0/20
HP: 0011784
Thyrotoxicosis with diffuse goiter
0/20
HP: 0011785
Thyrotoxicosis with toxic multinodular goiter
0/20
HP: 0011787
Central hypothyroidism
0/20
HP: 0011792
Neoplasm by histology
0/20
HP: 0011805
Abnormal skeletal muscle morphology
0/20
HP: 0011815
Cephalocele
0/20
HP: 0011821
Abnormality of facial skeleton
0/20
HP: 0011830
Abnormal oral mucosa morphology
0/20
HP: 0011838
Sclerodactyly
0/20
HP: 0011840
Abnormality of T cell physiology
0/20
HP: 0011842
Abnormality of skeletal morphology
0/20
HP: 0011849
Abnormal bone ossification
0/20
HP: 0011892
Low levels of vitamin K
0/20
HP: 0011893
Abnormal leukocyte count
0/20
HP: 0011895
Anemia due to reduced life span of red cells
0/20
HP: 0011902
Abnormal hemoglobin
0/20
HP: 0011915
Cardiovascular calcification
0/20
HP: 0011920
Transudative pleural effusion
0/20
HP: 0011927
Short digit
0/20
HP: 0011947
Respiratory tract infection
0/20
HP: 0011964
Intermittent painful muscle spasms
0/20
HP: 0011970
Cerebral amyloid angiopathy
0/20
HP: 0011981
Pigment gallstones
0/20
HP: 0011983
Brown pigment gallstones
0/20
HP: 0011991
Abnormal neutrophil count
0/20
HP: 0012023
Galactosuria
0/20
HP: 0012025
Abnormal circulating ornithine concentration
0/20
HP: 0012028
Hepatocellular adenoma
0/20
HP: 0012041
Decreased fertility in males
0/20
HP: 0012050
Anasarca
0/20
HP: 0012051
Reactive hypoglycemia
0/20
HP: 0012072
Aciduria
0/20
HP: 0012086
Abnormal urinary color
0/20
HP: 0012090
Abnormal pancreas morphology
0/20
HP: 0012091
Abnormality of pancreas physiology
0/20
HP: 0012103
Abnormality of the mitochondrion
0/20
HP: 0012111
Abnormality of circulating glucocorticoid level
0/20
HP: 0012116
Abnormal albumin level
0/20
HP: 0012117
Hyperalbuminemia
0/20
HP: 0012130
Abnormal erythroid lineage cell morphology
0/20
HP: 0012132
Erythroid hyperplasia
0/20
HP: 0012145
Abnormality of multiple cell lineages in the bone marrow
0/20
HP: 0012155
Decreased corneal sensation
0/20
HP: 0012169
Self-biting
0/20
HP: 0012197
Insulinoma
0/20
HP: 0012200
Abnormality of prothrombin
0/20
HP: 0012210
Abnormal renal morphology
0/20
HP: 0012239
Atransferrinemia
0/20
HP: 0012252
Abnormal respiratory system morphology
0/20
HP: 0012280
Hepatic amyloidosis
0/20
HP: 0012303
Abnormal aortic arch morphology
0/20
HP: 0012307
Spatulate ribs
0/20
HP: 0012309
Cutaneous amyloidosis
0/20
HP: 0012332
Abnormal autonomic nervous system physiology
0/20
HP: 0012335
Abnormality of folate metabolism
0/20
HP: 0012372
Abnormal eye morphology
0/20
HP: 0012373
Abnormal eye physiology
0/20
HP: 0012378
Fatigue
0/20
HP: 0012379
Abnormal enzyme/coenzyme activity
0/20
HP: 0012393
Allergy
0/20
HP: 0012396
Biliary dyskinesia
0/20
HP: 0012404
Abnormal urine citrate concentration
0/20
HP: 0012408
Medullary nephrocalcinosis
0/20
HP: 0012418
Hypoxemia
0/20
HP: 0012419
Hyperoxemia
0/20
HP: 0012431
Episodic fatigue
0/20
HP: 0012437
Abnormal gallbladder morphology
0/20
HP: 0012439
Abnormal biliary tract physiology
0/20
HP: 0012440
Abnormal biliary tract morphology
0/20
HP: 0012444
Brain atrophy
0/20
HP: 0012447
Abnormal myelination
0/20
HP: 0012456
Medial arterial calcification
0/20
HP: 0012463
Elevated transferrin saturation
0/20
HP: 0012465
Elevated hepatic iron concentration
0/20
HP: 0012468
Chronic acidosis
0/20
HP: 0012504
Abnormal size of pituitary gland
0/20
HP: 0012505
Enlarged pituitary gland
0/20
HP: 0012506
Small pituitary gland
0/20
HP: 0012531
Pain
0/20
HP: 0012537
Food intolerance
0/20
HP: 0012538
Gluten intolerance
0/20
HP: 0012547
Abnormal involuntary eye movements
0/20
HP: 0012558
Abnormal T3/T4 ratio
0/20
HP: 0012559
Increased T3/T4 ratio
0/20
HP: 0012590
Abnormal urine output
0/20
HP: 0012591
Abnormal urinary electrolyte concentration
0/20
HP: 0012592
Albuminuria
0/20
HP: 0012594
Microalbuminuria
0/20
HP: 0012600
Abnormal urine chloride concentration
0/20
HP: 0012602
Renal chloride wasting
0/20
HP: 0012603
Abnormal urine sodium concentration
0/20
HP: 0012606
Renal sodium wasting
0/20
HP: 0012607
Abnormal urine magnesium concentration
0/20
HP: 0012608
Hypermagnesiuria
0/20
HP: 0012610
Abnormality of urinary uric acid concentration
0/20
HP: 0012638
Abnormal nervous system physiology
0/20
HP: 0012639
Abnormal nervous system morphology
0/20
HP: 0012647
Abnormal inflammatory response
0/20
HP: 0012649
Increased inflammatory response
0/20
HP: 0012664
Reduced ejection fraction
0/20
HP: 0012666
Severely reduced ejection fraction
0/20
HP: 0012680
Abnormality of the pineal gland
0/20
HP: 0012688
Abnormality of pineal physiology
0/20
HP: 0012689
Abnormal pineal melatonin secretion
0/20
HP: 0012712
Mild hearing impairment
0/20
HP: 0012718
Morphological abnormality of the gastrointestinal tract
0/20
HP: 0012719
Functional abnormality of the gastrointestinal tract
0/20
HP: 0012722
Heart block
0/20
HP: 0012733
Macule
0/20
HP: 0012734
Ketotic hypoglycemia
0/20
HP: 0012743
Abdominal obesity
0/20
HP: 0012745
Short palpebral fissure
0/20
HP: 0012758
Neurodevelopmental delay
0/20
HP: 0012841
Retinal vascular tortuosity
0/20
HP: 0012871
Varicocele
0/20
HP: 0012874
Abnormal male reproductive system physiology
0/20
HP: 0012888
Abnormality of the uterine cervix
0/20
HP: 0012893
Neck muscle hypertrophy
0/20
HP: 0020047
Abnormal myeloid cell morphology
0/20
HP: 0020100
Unusual fungal infection
0/20
HP: 0020169
Abnormal drug response
0/20
HP: 0020171
Decreased blood drug concentration
0/20
HP: 0020172
Adverse drug response
0/20
HP: 0025017
Capillary fragility
0/20
HP: 0025018
Abnormal capillary physiology
0/20
HP: 0025031
Abnormality of the digestive system
0/20
HP: 0025032
Abnormality of digestive system physiology
0/20
HP: 0025033
Abnormality of digestive system morphology
0/20
HP: 0025089
Feculent vomiting
0/20
HP: 0025092
Epidermal acanthosis
0/20
HP: 0025129
Abnormal small intestinal mucosa morphology
0/20
HP: 0025130
Decreased small intestinal mucosa lactase activity
0/20
HP: 0025142
Constitutional symptom
0/20
HP: 0025143
Chills
0/20
HP: 0025144
Shivering
0/20
HP: 0025145
Rigors
0/20
HP: 0025169
Left ventricular systolic dysfunction
0/20
HP: 0025276
Abnormality of skin adnexa physiology
0/20
HP: 0025321
Copper accumulation in liver
0/20
HP: 0025343
Lupus anticoagulant
0/20
HP: 0025354
Abnormal cellular phenotype
0/20
HP: 0025383
Dorsocervical fat pad
0/20
HP: 0025388
Thyroid nodule
0/20
HP: 0025408
Abnormal spleen morphology
0/20
HP: 0025424
Abnormal larynx physiology
0/20
HP: 0025453
Delayed adrenarche
0/20
HP: 0025454
Abnormal CSF metabolite level
0/20
HP: 0025465
Abnormal circulating beta globulin level
0/20
HP: 0025470
Telogen effluvium
0/20
HP: 0025498
Aceruloplasminemia
0/20
HP: 0025501
Class III obesity
0/20
HP: 0025502
Overweight
0/20
HP: 0025520
Calcinosis cutis
0/20
HP: 0025552
Periorbital purpura
0/20
HP: 0025639
Increased urinary zinc level
0/20
HP: 0025640
Abnormal urinary mineral level
0/20
HP: 0030012
Abnormal female reproductive system physiology
0/20
HP: 0030057
Autoimmune antibody positivity
0/20
HP: 0030082
Abnormal drinking behavior
0/20
HP: 0030084
Clinodactyly
0/20
HP: 0030087
Abnormal serum testosterone level
0/20
HP: 0030163
Abnormal vascular physiology
0/20
HP: 0030173
Peripheral hypermyelination
0/20
HP: 0030175
Myelin tomacula
0/20
HP: 0030177
Abnormality of peripheral nervous system electrophysiology
0/20
HP: 0030182
Tetraplegia/tetraparesis
0/20
HP: 0030187
Titubation
0/20
HP: 0030188
Tremor by anatomical site
0/20
HP: 0030236
Abnormality of muscle size
0/20
HP: 0030318
Angular cheilitis
0/20
HP: 0030319
Weakness of facial musculature
0/20
HP: 0030347
Abnormal circulating androgen level
0/20
HP: 0030404
Glucagonoma
0/20
HP: 0030405
Pancreatic endocrine tumor
0/20
HP: 0030416
Vulvar neoplasm
0/20
HP: 0030428
Cutaneous myxoma
0/20
HP: 0030453
Abnormal visual electrophysiology
0/20
HP: 0030669
Abnormal ocular adnexa morphology
0/20
HP: 0030680
Abnormality of cardiovascular system morphology
0/20
HP: 0030724
Central nervous system cyst
0/20
HP: 0030756
Erythrodontia
0/20
HP: 0030791
Abnormal jaw morphology
0/20
HP: 0030809
Abnormal tongue morphology
0/20
HP: 0030810
Abnormal tongue physiology
0/20
HP: 0030814
Orange discolored tonsils
0/20
HP: 0030828
Wheezing
0/20
HP: 0030829
Abnormal breath sound
0/20
HP: 0030843
Cardiac amyloidosis
0/20
HP: 0030850
Abnormal pulse pressure
0/20
HP: 0030858
Addictive behavior
0/20
HP: 0030872
Abnormal cardiac ventricular function
0/20
HP: 0030895
Abnormal gastrointestinal motility
0/20
HP: 0030955
Alcoholism
0/20
HP: 0030956
Abnormality of cardiovascular system electrophysiology
0/20
HP: 0030962
Abnormal morphology of the great vessels
0/20
HP: 0031065
Abnormal ovarian morphology
0/20
HP: 0031066
Abnormal ovarian physiology
0/20
HP: 0031071
Abnormal endocrine morphology
0/20
HP: 0031072
Abnormal endocrine physiology
0/20
HP: 0031137
Storage in hepatocytes
0/20
HP: 0031140
Abnormal liver sonography
0/20
HP: 0031141
Increased hepatic echogenicity
0/20
HP: 0031142
Abnormal hepatic echogenicity
0/20
HP: 0031143
Decreased hepatic echogenicity
0/20
HP: 0031181
Necrolytic migratory erythema
0/20
HP: 0031218
Inappropriate antidiuretic hormone secretion
0/20
HP: 0031273
Shock
0/20
HP: 0031274
Hypovolemic shock
0/20
HP: 0031284
Flushing
0/20
HP: 0031285
Abnormal perifollicular morphology
0/20
HP: 0031327
Transthyretin cardiac amyloidosis
0/20
HP: 0031357
Glomeruloid hemangioma
0/20
HP: 0031358
Vegetative state
0/20
HP: 0031372
Cold paresis
0/20
HP: 0031409
Abnormal lymphocyte physiology
0/20
HP: 0031466
Impairment in personality functioning
0/20
HP: 0031491
Continuous spike and waves during slow sleep
0/20
HP: 0031508
Abnormal thyroid hormone level
0/20
HP: 0031546
Cardiac conduction abnormality
0/20
HP: 0031657
Abnormal heart sound
0/20
HP: 0031703
Abnormal ear morphology
0/20
HP: 0031704
Abnormal ear physiology
0/20
HP: 0031801
Vocal cord dysfunction
0/20
HP: 0031803
Fundus hemorrhage
0/20
HP: 0031816
Abnormal oral morphology
0/20
HP: 0031826
Abnormal reflex
0/20
HP: 0031842
Lymphangiectasis
0/20
HP: 0031886
Abnormal LDL cholesterol concentration
0/20
HP: 0031910
Abnormal cranial nerve physiology
0/20
HP: 0031954
Dystonic gait
0/20
HP: 0031955
Antalgic gait
0/20
HP: 0031970
Abnormal blood urea nitrogen concentration
0/20
HP: 0031979
Abnormal urine carbohydrate level
0/20
HP: 0031980
Abnormal urine carboxylic acid level
0/20
HP: 0032016
Abnormal sputum
0/20
HP: 0032039
Abnormality of the ocular adnexa
0/20
HP: 0032096
Abnormal manganese concentration
0/20
HP: 0032101
Unusual infection
0/20
HP: 0032106
Conjunctival icterus
0/20
HP: 0032145
Sural nerve atrophy
0/20
HP: 0032179
Abnormal circulating globulin level
0/20
HP: 0032199
Abnormal prothrombin time
0/20
HP: 0032202
Vulvar intraepithelial neoplasia
0/20
HP: 0032241
Cervical neoplasm
0/20
HP: 0032242
Cervical intraepithelial neoplasia
0/20
HP: 0032243
Abnormal tissue metabolite concentration
0/20
HP: 0032251
Abnormal immune system morphology
0/20
HP: 0032278
2-hydroxyglutarate aciduria
0/20
HP: 0032309
Abnormal granulocyte count
0/20
HP: 0032346
Cutaneous lichen amyloidosis
0/20
HP: 0032347
Cutaneous macular amyloidosis
0/20
HP: 0032348
Cutaneous nodular amyloidosis
0/20
HP: 0032350
Sulfocysteinuria
0/20
HP: 0032367
Abnormal growth hormone level
0/20
HP: 0032385
Abnormal circulating transferrin level
0/20
HP: 0032476
Abnormal circulating vitamin B6 level
0/20
HP: 0040063
Decreased adipose tissue
0/20
HP: 0040075
Hypopituitarism
0/20
HP: 0040081
Abnormal circulating creatine kinase concentration
0/20
HP: 0040085
Abnormal circulating aldosterone
0/20
HP: 0040087
Abnormal blood folate concentration
0/20
HP: 0040088
Abnormal lymphocyte count
0/20
HP: 0040129
Abnormal nerve conduction velocity
0/20
HP: 0040130
Abnormal serum iron concentration
0/20
HP: 0040131
Abnormal motor nerve conduction velocity
0/20
HP: 0040133
Abnormal serum ferritin
0/20
HP: 0040134
Abnormal hepatic iron concentration
0/20
HP: 0040135
Abnormal transferrin saturation
0/20
HP: 0040142
Reduced 5-oxoprolinase activity
0/20
HP: 0040156
Elevated urinary carboxylic acid
0/20
HP: 0040202
Abnormal consumption behavior
0/20
HP: 0040211
Abnormality of the skin of the palm
0/20
HP: 0040214
Abnormal insulin level
0/20
HP: 0040215
Abnormal circulating insulin level
0/20
HP: 0040217
Elevated hemoglobin A1c
0/20
HP: 0040278
Prolactinoma
0/20
HP: 0040303
Decreased serum iron
0/20
HP: 0040309
Increased size of the mandible
0/20
HP: 0045010
Abnormality of peripheral nerves
0/20
HP: 0045014
Hypolipidemia
0/20
HP: 0045025
Narrow palpebral fissure
0/20
HP: 0045026
Abnormality of the mediastinum
0/20
HP: 0045027
Abnormality of the thoracic cavity
0/20
HP: 0100000
Early onset of sexual maturation
0/20
HP: 0100006
Neoplasm of the central nervous system
0/20
HP: 0100007
Neoplasm of the peripheral nervous system
0/20
HP: 0100022
Abnormality of movement
0/20
HP: 0100027
Recurrent pancreatitis
0/20
HP: 0100031
Neoplasm of the thyroid gland
0/20
HP: 0100256
Senile plaques
0/20
HP: 0100324
Scleroderma
0/20
HP: 0100326
Immunologic hypersensitivity
0/20
HP: 0100327
Cow milk allergy
0/20
HP: 0100507
Reduced blood folate concentration
0/20
HP: 0100513
Low levels of vitamin E
0/20
HP: 0100514
Abnormality of vitamin E metabolism
0/20
HP: 0100529
Abnormal blood phosphate concentration
0/20
HP: 0100530
Abnormal calcium-phosphate regulating hormone level
0/20
HP: 0100533
Inflammatory abnormality of the eye
0/20
HP: 0100542
Abnormal localization of kidney
0/20
HP: 0100543
Cognitive impairment
0/20
HP: 0100545
Arterial stenosis
0/20
HP: 0100547
Abnormality of forebrain morphology
0/20
HP: 0100576
Amaurosis fugax
0/20
HP: 0100582
Nasal polyposis
0/20
HP: 0100584
Endocarditis
0/20
HP: 0100593
Calcification of cartilage
0/20
HP: 0100614
Myositis
0/20
HP: 0100631
Neoplasm of the adrenal gland
0/20
HP: 0100634
Neuroendocrine neoplasm
0/20
HP: 0100641
Neoplasm of the adrenal cortex
0/20
HP: 0100646
Thyroiditis
0/20
HP: 0100647
Graves disease
0/20
HP: 0100649
Neoplasm of the oral cavity
0/20
HP: 0100695
Lipedema
0/20
HP: 0100711
Abnormality of the thoracic spine
0/20
HP: 0100721
Mediastinal lymphadenopathy
0/20
HP: 0100733
Neoplasm of the parathyroid gland
0/20
HP: 0100738
Abnormal eating behavior
0/20
HP: 0100758
Gangrene
0/20
HP: 0100763
Abnormality of the lymphatic system
0/20
HP: 0100765
Abnormality of the tonsils
0/20
HP: 0100766
Abnormal lymphatic vessel morphology
0/20
HP: 0100806
Sepsis
0/20
HP: 0100807
Long fingers
0/20
HP: 0100827
Lymphocytosis
0/20
HP: 0100831
Abnormality of vitamin K metabolism
0/20
HP: 0100832
Vitreous floaters
0/20
HP: 0100836
Malignant neoplasm of the central nervous system
0/20
HP: 0100842
Septo-optic dysplasia
0/20
HP: 0100871
Abnormality of the palm
0/20
HP: 0100887
Abnormality of globe size
0/20
HP: 0100959
Dense metaphyseal bands
0/20
HP: 0200006
Slanting of the palpebral fissure
0/20
HP: 0200007
Abnormal size of the palpebral fissures
0/20
HP: 0200032
Kayser-Fleischer ring
0/20
HP: 0200114
Metabolic alkalosis
0/20
HP: 0410007
obsolete Abnormality of cartilage morphology
0/20
HP: 0410008
Abnormality of the peripheral nervous system
0/20
HP: 0410042
Abnormal liver morphology
0/20
HP: 0410132
Increased level of L-pyroglutamic acid in urine
0/20
HP: 0410175
Hyperketonemia
0/20
HP: 0410240
Abnormal IgA level
0/20
HP: 0410278
Pituitary gland cyst
0/20
HP: 0410327
Dairy allergy
0/20
HP: 0410329
Gluten allergy
0/20
HP: 0500011
Moon facies
0/20
HP: 0500093
Food allergy
0/20
HP: 0500133
Hypotyrosinemia
0/20
HP: 0500163
Hypoornithinemia
0/20
HP: 0500165
Abnormal blood oxygen level
0/20
HP: 0550003
Proximal scleroderma
0/20
HP: 3000022
Abnormality of cartilage of external ear
0/20
HP: 3000036
Abnormality of head blood vessel
0/20