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ICD-10
HPO
Compare GWAS
Super Class
Top
Sub Class
Diseases of external ear
Diseases of middle ear and mastoid
Diseases of inner ear
Other disorders of ear
Diseases of the ear and mastoid process
Chapter8
Female
ⓘ
Male
ⓘ
Links
Ignore Sex
Interactive Plot
Statistics
Female Case
Female Control
% Female
6712
243152
51%
Male Case
Male Control
% Male
6577
203765
49%
Top SNP Information
Show Female
Show Male
Location
SNP
Gene
Ref>Alt
Alt in Case
Alt in Control
Chi-square
P-value
Odds ratio
chr1:151585573
rs114502917
SNX27
C>T
407
11454
26.64
2.446e-07
1.301
chr1:61143560
rs473707
-
C>T
6229
216047
22.96
1.658e-06
1.086
chr9:109309073
rs117558183
-
C>T
332
9307
22.24
2.407e-06
1.304
chr19:7930381
rs509072
-
G>A
3184
124652
21.62
3.331e-06
0.9095
chr19:7910854
rs794442
EVI5L
G>A
3202
125176
21.55
3.449e-06
0.9099
chr8:109583251
rs74551900
-
G>A
837
26002
21.27
3.992e-06
1.181
chr16:88992686
rs501671
CBFA2T3
A>G
363
16785
21.18
4.179e-06
0.7813
chr9:74367264
rs72738002
CEMIP2
A>G
323
9040
21.01
4.573e-06
1.299
chr19:48533638
rs78570516
CABP5
G>T
297
8292
20.63
5.577e-06
1.31
chr20:16187524
rs6043806
-
A>G
6665
252233
20.31
6.575e-06
0.9259
chr6:10687746
Affx-27417025
C6orf52
G>T
377
17256
20.25
6.789e-06
0.789
chr7:29628908
rs10251072
-
A>C
4782
164863
20.17
7.088e-06
1.084
chr12:69357989
rs4913479
CPM
C>T
1982
79187
19.9
8.151e-06
0.8964
chr4:75597495
rs76079479
-
T>C
6669
232840
19.9
8.161e-06
1.079
chr5:172154752
rs58414177
-
C>A
183
9225
19.57
9.674e-06
0.7182
chr16:88993580
rs1808448
CBFA2T3
C>T
305
14270
19.53
9.883e-06
0.7727
chr5:147976829
rs116458312
HTR4
A>T
823
25742
19.5
1.006e-05
1.175
chr4:186159677
rs78233790
SNX25
G>A
352
10118
19.25
1.148e-05
1.272
chr18:50047766
rs79288521
DCC
C>T
275
7664
19.15
1.206e-05
1.311
chr11:73745147
rs826071
C2CD3
A>G
292
13683
18.85
1.41e-05
0.772
chr1:151585573
rs114502917
SNX27
C>T
403
11258
27.06
1.977e-07
1.306
chr9:109309073
rs117558183
-
C>T
310
8547
22.76
1.839e-06
1.321
chr8:109583251
rs74551900
-
G>A
788
24124
22.73
1.867e-06
1.194
chr3:148432469
rs4681443
-
G>A
2115
70513
22.58
2.018e-06
1.122
chr9:74367264
rs72738002
CEMIP2
A>G
318
8795
22.02
2.704e-06
1.31
chr7:29628908
rs10251072
-
A>C
4624
158245
21.91
2.859e-06
1.09
chr8:109520708
rs7833253
-
G>A
734
22504
21.72
3.15e-06
1.197
chr4:68829109
rs977728
TMPRSS11A
C>T
2466
81900
21.53
3.492e-06
1.111
chr4:68850229
rs62300800
-
G>A
2463
81965
21.28
3.967e-06
1.11
chr1:61143560
rs473707
-
C>T
6061
209650
21.27
3.999e-06
1.085
chr19:48533638
rs78570516
CABP5
G>T
296
8216
20.82
5.051e-06
1.313
chr18:50047766
rs79288521
DCC
C>T
274
7538
20.35
6.442e-06
1.322
chr12:124933494
rs112680078
NCOR2
A>G
304
14213
20.16
7.105e-06
0.7691
chr11:120342804
rs673974
ARHGEF12
G>A
483
21383
19.89
8.211e-06
0.8117
chr2:18901864
rs6723603
-
A>G
1050
43418
19.87
8.291e-06
0.8651
chr10:13843427
rs34352641
FRMD4A
G>A
818
25373
19.76
8.787e-06
1.177
chr12:124913449
rs1244094
NCOR2
G>C
338
15531
19.25
1.149e-05
0.7837
chr4:186159677
rs78233790
SNX25
G>A
348
9961
19.01
1.3e-05
1.272
chr9:109319408
rs77068517
-
G>A
296
8306
18.93
1.357e-05
1.296
chr4:75597495
rs76079479
-
T>C
6445
224179
18.9
1.381e-05
1.079
Location
SNP
Gene
Ref>Alt
Alt in Case
Alt in Control
Chi-square
P-value
Odds ratio
chr15:48426484
rs1426654
SLC24A5
A>G
192
11290
79.24
5.488e-19
0.5265
chr8:145639681
rs1871534
SLC39A4
G>C
106
7619
77.7
1.2e-18
0.4315
chr1:159174683
rs2814778
ACKR1
T>C
125
8215
72.04
2.105e-17
0.472
chr15:48392165
rs1834640
-
A>G
249
13218
71.75
2.437e-17
0.5826
chr17:58508582
rs8071181
C17orf64
G>A
87
6496
69.62
7.173e-17
0.4167
chr1:173579034
rs12065033
AL139142.2
C>T
93
6394
60.38
7.824e-15
0.4523
chr1:207782889
rs17047661
CR1
A>G
85
6019
59.7
1.103e-14
0.439
chr15:45491394
rs1648299
SHF
T>C
116
7190
56.25
6.373e-14
0.501
chr3:188327555
rs7645635
LPP
T>C
91
6099
55.2
1.091e-13
0.4638
chr15:88991887
rs7182360
-
T>C
162
8964
53.96
2.046e-13
0.561
chr7:38331504
rs1860521
-
C>T
132
7688
52.46
4.381e-13
0.5334
chr9:117110112
Affx-52344420
AKNA
T>TG
95
6133
51.86
5.972e-13
0.4815
chr11:67220175
rs1638560
GPR152
A>G
63
4751
51.66
6.615e-13
0.4129
chr1:49177000
rs405325
AGBL4
G>A
69
5002
51.4
7.546e-13
0.4292
chr19:42393286
rs717225
ARHGEF1
A>G
176
9348
50.39
1.263e-12
0.5844
chr19:42392441
rs16975619
ARHGEF1
T>C
154
8483
50.38
1.269e-12
0.5641
chr12:53817956
rs784894
AMHR2
C>A
63
4697
50.24
1.359e-12
0.4176
chr11:67218909
rs949252
GPR152
A>G
60
4558
50.06
1.494e-12
0.41
chr5:147863034
rs9325101
HTR4
A>G
119
7037
49.59
1.896e-12
0.5258
chr13:31074486
rs7326905
HMGB1
G>A
58
4442
49.37
2.124e-12
0.4066
chr1:102297422
rs17430033
OLFM3
A>G
613
15396
26.74
2.331e-07
1.243
chr16:13896233
rs10521043
-
C>T
616
15669
23.92
1.004e-06
1.228
chr14:42811317
rs12433121
-
T>C
1402
38366
23.01
1.615e-06
1.148
chr4:7792662
rs877707
AFAP1
T>C
1510
41775
21.41
3.706e-06
1.137
chr20:2566845
rs66568047
TMC2
A>G
5463
177419
20.32
6.542e-06
0.9221
chr8:65303535
rs298182
-
G>A
1395
38466
20.03
7.632e-06
1.138
chr1:177896795
rs593809
SEC16B
A>C
644
23698
19.83
8.456e-06
0.8334
chr13:73844105
rs2875652
-
T>C
2135
72288
19.68
9.169e-06
0.899
chr17:14866346
rs62058734
-
C>T
2197
62241
19.53
9.915e-06
1.111
chr16:77669306
rs381534
-
C>T
3711
108000
18.99
1.316e-05
1.09
chr17:39712739
rs62066569
-
G>A
1359
37549
18.87
1.403e-05
1.135
chr13:59462545
rs117145353
-
A>G
332
8097
18.82
1.44e-05
1.278
chr2:129542767
rs11690256
-
C>T
4343
141965
18.7
1.533e-05
0.9218
chr4:7810354
rs61166235
AFAP1
T>C
1907
53792
18.44
1.752e-05
1.114
chr6:156496610
rs9478691
-
A>C
579
15016
18.41
1.777e-05
1.204
chr6:30089280
rs9261438
-
C>T
4108
120371
18.26
1.927e-05
1.085
chr1:225539363
rs12408617
DNAH14
G>A
484
18178
18.23
1.96e-05
0.8187
chr7:68968288
rs11762075
-
T>C
4206
137652
18.19
2.001e-05
0.9222
chr1:72190538
rs78032349
NEGR1
T>G
360
8900
18.07
2.132e-05
1.26
chr2:20290451
rs76950201
-
C>T
559
14499
17.73
2.546e-05
1.203
Associated Phenotypes
ⓘ
Shared SNP phenotype
No shared SNP phenotype
ID
Name
Top Correlation
HP: 0000078
Abnormality of the genital system
1/20
HP: 0000118
Phenotypic abnormality
2/20
HP: 0000119
Abnormality of the genitourinary system
2/20
HP: 0000152
Abnormality of head or neck
2/20
HP: 0000234
Abnormality of the head
2/20
HP: 0000282
Facial edema
4/20
HP: 0000356
Abnormality of the outer ear
7/20
HP: 0000359
Abnormality of the inner ear
3/20
HP: 0000364
Hearing abnormality
12/20
HP: 0000365
Hearing impairment
12/20
HP: 0000370
Abnormality of the middle ear
4/20
HP: 0000377
Abnormality of the pinna
6/20
HP: 0000383
Abnormality of periauricular region
1/20
HP: 0000405
Conductive hearing impairment
11/20
HP: 0000407
Sensorineural hearing impairment
15/20
HP: 0000492
Abnormal eyelid morphology
1/20
HP: 0000496
Abnormality of eye movement
1/20
HP: 0000502
Abnormal conjunctiva morphology
3/20
HP: 0000504
Abnormality of vision
1/20
HP: 0000505
Visual impairment
3/20
HP: 0000589
Coloboma
4/20
HP: 0000598
Abnormality of the ear
9/20
HP: 0000606
Abnormality of the periorbital region
3/20
HP: 0000629
Periorbital fullness
4/20
HP: 0000640
Gaze-evoked nystagmus
2/20
HP: 0000707
Abnormality of the nervous system
1/20
HP: 0000924
Abnormality of the skeletal system
2/20
HP: 0000929
Abnormal skull morphology
1/20
HP: 0000940
Abnormal diaphysis morphology
2/20
HP: 0000964
Eczema
6/20
HP: 0001055
Erysipelas
5/20
HP: 0001072
Thickened skin
1/20
HP: 0001155
Abnormality of the hand
5/20
HP: 0001159
Syndactyly
8/20
HP: 0001167
Abnormality of finger
4/20
HP: 0001287
Meningitis
2/20
HP: 0001298
Encephalopathy
3/20
HP: 0001311
Abnormal nervous system electrophysiology
1/20
HP: 0001332
Dystonia
2/20
HP: 0001367
Abnormal joint morphology
2/20
HP: 0001369
Arthritis
2/20
HP: 0001405
Periportal fibrosis
1/20
HP: 0001595
Abnormal hair morphology
5/20
HP: 0001608
Abnormality of the voice
1/20
HP: 0001626
Abnormality of the cardiovascular system
1/20
HP: 0001627
Abnormal heart morphology
1/20
HP: 0001679
Abnormal aortic morphology
5/20
HP: 0001739
Abnormality of the nasopharynx
5/20
HP: 0001760
Abnormality of the foot
2/20
HP: 0001780
Abnormality of toe
4/20
HP: 0001844
Abnormality of the hallux
5/20
HP: 0001888
Lymphopenia
1/20
HP: 0001892
Abnormal bleeding
2/20
HP: 0001939
Abnormality of metabolism/homeostasis
2/20
HP: 0001999
Abnormal facial shape
3/20
HP: 0002011
Morphological central nervous system abnormality
2/20
HP: 0002063
Rigidity
8/20
HP: 0002076
Migraine
2/20
HP: 0002086
Abnormality of the respiratory system
2/20
HP: 0002088
Abnormal lung morphology
2/20
HP: 0002183
Phonophobia
3/20
HP: 0002205
Recurrent respiratory infections
3/20
HP: 0002242
Abnormal intestine morphology
2/20
HP: 0002244
Abnormality of the small intestine
3/20
HP: 0002500
Abnormality of the cerebral white matter
2/20
HP: 0002574
Episodic abdominal pain
6/20
HP: 0002597
Abnormality of the vasculature
1/20
HP: 0002644
Abnormality of pelvic girdle bone morphology
2/20
HP: 0002664
Neoplasm
1/20
HP: 0002683
Abnormality of the calvaria
1/20
HP: 0002693
Abnormality of the skull base
2/20
HP: 0002715
Abnormality of the immune system
1/20
HP: 0002716
Lymphadenopathy
3/20
HP: 0002718
Recurrent bacterial infections
1/20
HP: 0002730
Chronic noninfectious lymphadenopathy
1/20
HP: 0002733
Abnormality of the lymph nodes
2/20
HP: 0002754
Osteomyelitis
7/20
HP: 0002788
Recurrent upper respiratory tract infections
4/20
HP: 0002793
Abnormal pattern of respiration
4/20
HP: 0002813
Abnormality of limb bone morphology
2/20
HP: 0002814
Abnormality of the lower limb
2/20
HP: 0002817
Abnormality of the upper limb
2/20
HP: 0002843
Abnormal T cell morphology
4/20
HP: 0002955
Granulomatosis
3/20
HP: 0003011
Abnormality of the musculature
1/20
HP: 0003330
Abnormal bone structure
2/20
HP: 0003549
Abnormality of connective tissue
5/20
HP: 0004311
Abnormal macrophage morphology
2/20
HP: 0004332
Abnormal lymphocyte morphology
2/20
HP: 0004372
Reduced consciousness/confusion
1/20
HP: 0004377
Hematological neoplasm
3/20
HP: 0004406
Spontaneous, recurrent epistaxis
1/20
HP: 0004464
Postauricular pit
1/20
HP: 0005339
Abnormality of complement system
3/20
HP: 0005403
Decrease in T cell count
2/20
HP: 0005922
Abnormal hand morphology
5/20
HP: 0006101
Finger syndactyly
8/20
HP: 0006504
obsolete Anomaly of the limb diaphyses morphology
2/20
HP: 0006824
Cranial nerve paralysis
1/20
HP: 0007302
Bipolar affective disorder
2/20
HP: 0008609
Morphological abnormality of the middle ear
2/20
HP: 0009115
Aplasia/hypoplasia involving the skeleton
2/20
HP: 0009797
Cholesteatoma
5/20
HP: 0010051
Deviation of the hallux
1/20
HP: 0010606
Hordeolum
4/20
HP: 0010607
Hordeolum externum
5/20
HP: 0010622
Neoplasm of the skeletal system
7/20
HP: 0010628
Facial palsy
1/20
HP: 0010720
Abnormal hair pattern
8/20
HP: 0010732
Nodular changes affecting the eyelids
5/20
HP: 0010827
Abnormality of the seventh cranial nerve
1/20
HP: 0010978
Abnormality of immune system physiology
2/20
HP: 0010993
Abnormality of the cerebral subcortex
2/20
HP: 0011004
Abnormal systemic arterial morphology
6/20
HP: 0011006
Abnormal morphology of the musculature of the neck
2/20
HP: 0011024
Abnormality of the gastrointestinal tract
7/20
HP: 0011028
Abnormality of blood circulation
2/20
HP: 0011029
Internal hemorrhage
2/20
HP: 0011110
Tonsillitis
1/20
HP: 0011121
Abnormality of skin morphology
2/20
HP: 0011122
Abnormality of skin physiology
4/20
HP: 0011123
Inflammatory abnormality of the skin
4/20
HP: 0011138
Abnormality of skin adnexa morphology
5/20
HP: 0011297
Abnormal digit morphology
3/20
HP: 0011314
Abnormality of long bone morphology
1/20
HP: 0011338
Abnormality of mouth shape
5/20
HP: 0011355
Localized skin lesion
4/20
HP: 0011360
Acquired abnormal hair pattern
5/20
HP: 0011368
Epidermal thickening
1/20
HP: 0011389
Functional abnormality of the inner ear
3/20
HP: 0011442
Abnormal central motor function
1/20
HP: 0011444
Decorticate rigidity
8/20
HP: 0011452
Functional abnormality of the middle ear
11/20
HP: 0011793
Neoplasm by anatomical site
1/20
HP: 0011799
Abnormality of facial soft tissue
3/20
HP: 0011804
Abnormal muscle physiology
1/20
HP: 0011805
Abnormal skeletal muscle morphology
2/20
HP: 0011839
Abnormal T cell count
4/20
HP: 0011842
Abnormality of skeletal morphology
2/20
HP: 0011844
Abnormal appendicular skeleton morphology
2/20
HP: 0011849
Abnormal bone ossification
1/20
HP: 0011899
Hyperfibrinogenemia
2/20
HP: 0012252
Abnormal respiratory system morphology
2/20
HP: 0012303
Abnormal aortic arch morphology
1/20
HP: 0012337
Abnormal homeostasis
1/20
HP: 0012387
Bronchitis
2/20
HP: 0012388
Acute bronchitis
1/20
HP: 0012395
Seasonal allergy
3/20
HP: 0012443
Abnormality of brain morphology
2/20
HP: 0012531
Pain
1/20
HP: 0012639
Abnormal nervous system morphology
1/20
HP: 0012647
Abnormal inflammatory response
5/20
HP: 0012649
Increased inflammatory response
5/20
HP: 0012718
Morphological abnormality of the gastrointestinal tract
5/20
HP: 0012725
Cutaneous syndactyly
8/20
HP: 0012759
Neurodevelopmental abnormality
2/20
HP: 0012780
Neoplasm of the ear
4/20
HP: 0025015
Abnormal vascular morphology
6/20
HP: 0025032
Abnormality of digestive system physiology
1/20
HP: 0025084
Folliculitis
1/20
HP: 0025112
Sound sensitivity
3/20
HP: 0025142
Constitutional symptom
2/20
HP: 0025439
Pharyngitis
1/20
HP: 0030014
Female sexual dysfunction
3/20
HP: 0030017
Vaginismus
1/20
HP: 0030178
Abnormality of central nervous system electrophysiology
3/20
HP: 0030313
Abnormal periosteum morphology
1/20
HP: 0030319
Weakness of facial musculature
9/20
HP: 0030766
Ear pain
2/20
HP: 0030831
Rhonchi
3/20
HP: 0030962
Abnormal morphology of the great vessels
1/20
HP: 0031283
Tufted hairs
3/20
HP: 0031292
Cutaneous abscess
3/20
HP: 0031458
Adenoiditis
5/20
HP: 0031703
Abnormal ear morphology
10/20
HP: 0031704
Abnormal ear physiology
6/20
HP: 0032148
Episodic pain
6/20
HP: 0040064
Abnormality of limbs
2/20
HP: 0040068
Abnormality of limb bone
2/20
HP: 0040069
Abnormal lower limb bone morphology
2/20
HP: 0040165
Periostitis
1/20
HP: 0040166
Abnormality of the periosteum
1/20
HP: 0100022
Abnormality of movement
2/20
HP: 0100277
Periauricular skin pits
1/20
HP: 0100498
Deviation of toes
2/20
HP: 0100536
Abnormality of the fascia
3/20
HP: 0100537
Fasciitis
3/20
HP: 0100539
Periorbital edema
5/20
HP: 0100568
Neoplasm of the endocrine system
6/20
HP: 0100634
Neuroendocrine neoplasm
7/20
HP: 0100658
Cellulitis
6/20
HP: 0100754
Mania
2/20
HP: 0100777
Exostoses
7/20
HP: 0100799
Neoplasm of the middle ear
5/20
HP: 0200036
Skin nodule
3/20
HP: 3000033
Abnormality of nasopharyngeal adenoids
5/20
ID
Name
Top Correlation
HP: 0000080
Abnormality of reproductive system physiology
0/20
HP: 0000153
Abnormality of the mouth
0/20
HP: 0000163
Abnormal oral cavity morphology
0/20
HP: 0000172
Abnormality of the uvula
0/20
HP: 0000174
Abnormal palate morphology
0/20
HP: 0000193
Bifid uvula
0/20
HP: 0000245
Abnormality of the paranasal sinuses
0/20
HP: 0000246
Sinusitis
0/20
HP: 0000255
Acute sinusitis
0/20
HP: 0000264
Abnormality of the mastoid
0/20
HP: 0000265
Mastoiditis
0/20
HP: 0000271
Abnormality of the face
0/20
HP: 0000301
Abnormality of facial musculature
0/20
HP: 0000309
Abnormality of the midface
0/20
HP: 0000315
Abnormality of the orbital region
0/20
HP: 0000360
Tinnitus
0/20
HP: 0000362
Otosclerosis
0/20
HP: 0000366
Abnormality of the nose
0/20
HP: 0000371
Acute otitis media
0/20
HP: 0000372
Abnormality of the auditory canal
0/20
HP: 0000375
Abnormal cochlea morphology
0/20
HP: 0000388
Otitis media
0/20
HP: 0000389
Chronic otitis media
0/20
HP: 0000402
Stenosis of the external auditory canal
0/20
HP: 0000403
Recurrent otitis media
0/20
HP: 0000408
Progressive sensorineural hearing impairment
0/20
HP: 0000410
Mixed hearing impairment
0/20
HP: 0000415
Abnormality of the choanae
0/20
HP: 0000421
Epistaxis
0/20
HP: 0000453
Choanal atresia
0/20
HP: 0000464
Abnormality of the neck
0/20
HP: 0000473
Torticollis
0/20
HP: 0000478
Abnormality of the eye
0/20
HP: 0000572
Visual loss
0/20
HP: 0000600
Abnormality of the pharynx
0/20
HP: 0000614
Abnormal nasolacrimal system morphology
0/20
HP: 0000639
Nystagmus
0/20
HP: 0000666
Horizontal nystagmus
0/20
HP: 0000708
Behavioral abnormality
0/20
HP: 0000733
Stereotypy
0/20
HP: 0000750
Delayed speech and language development
0/20
HP: 0000759
Abnormal peripheral nervous system morphology
0/20
HP: 0000851
Congenital hypothyroidism
0/20
HP: 0000925
Abnormality of the vertebral column
0/20
HP: 0000951
Abnormality of the skin
0/20
HP: 0000969
Edema
0/20
HP: 0000976
Eczematoid dermatitis
0/20
HP: 0001036
Parakeratosis
0/20
HP: 0001251
Ataxia
0/20
HP: 0001291
Abnormal cranial nerve morphology
0/20
HP: 0001293
Cranial nerve compression
0/20
HP: 0001310
Dysmetria
0/20
HP: 0001324
Muscle weakness
0/20
HP: 0001328
Specific learning disability
0/20
HP: 0001336
Myoclonus
0/20
HP: 0001392
Abnormality of the liver
0/20
HP: 0001395
Hepatic fibrosis
0/20
HP: 0001574
Abnormality of the integument
0/20
HP: 0001581
Recurrent skin infections
0/20
HP: 0001609
Hoarse voice
0/20
HP: 0001637
Abnormal myocardium morphology
0/20
HP: 0001730
Progressive hearing impairment
0/20
HP: 0001751
Vestibular dysfunction
0/20
HP: 0001756
Vestibular hypofunction
0/20
HP: 0001863
Toe clinodactyly
0/20
HP: 0001871
Abnormality of blood and blood-forming tissues
0/20
HP: 0001879
Abnormal eosinophil morphology
0/20
HP: 0001880
Eosinophilia
0/20
HP: 0001881
Abnormal leukocyte morphology
0/20
HP: 0001882
Leukopenia
0/20
HP: 0001909
Leukemia
0/20
HP: 0001911
Abnormal granulocyte morphology
0/20
HP: 0001928
Abnormality of coagulation
0/20
HP: 0001974
Leukocytosis
0/20
HP: 0002012
Abnormality of the abdominal organs
0/20
HP: 0002027
Abdominal pain
0/20
HP: 0002060
Abnormal cerebral morphology
0/20
HP: 0002167
Neurological speech impairment
0/20
HP: 0002180
Neurodegeneration
0/20
HP: 0002315
Headache
0/20
HP: 0002321
Vertigo
0/20
HP: 0002352
Leukoencephalopathy
0/20
HP: 0002442
Dyscalculia
0/20
HP: 0002474
Expressive language delay
0/20
HP: 0002516
Increased intracranial pressure
0/20
HP: 0002633
Vasculitis
0/20
HP: 0002648
Abnormality of calvarial morphology
0/20
HP: 0002665
Lymphoma
0/20
HP: 0002668
Paraganglioma
0/20
HP: 0002719
Recurrent infections
0/20
HP: 0002728
Chronic mucocutaneous candidiasis
0/20
HP: 0002737
Thick skull base
0/20
HP: 0002740
Recurrent E. coli infections
0/20
HP: 0002763
Abnormal cartilage morphology
0/20
HP: 0002791
Hypoventilation
0/20
HP: 0002795
Functional respiratory abnormality
0/20
HP: 0002840
Lymphadenitis
0/20
HP: 0002841
Recurrent fungal infections
0/20
HP: 0002864
Paraganglioma of head and neck
0/20
HP: 0002921
Abnormality of the cerebrospinal fluid
0/20
HP: 0002926
Abnormality of thyroid physiology
0/20
HP: 0003001
Glomus jugular tumor
0/20
HP: 0003256
Abnormality of the coagulation cascade
0/20
HP: 0003468
Abnormal vertebral morphology
0/20
HP: 0003470
Paralysis
0/20
HP: 0004305
Involuntary movements
0/20
HP: 0004348
Abnormality of bone mineral density
0/20
HP: 0004373
Focal dystonia
0/20
HP: 0004375
Neoplasm of the nervous system
0/20
HP: 0004426
Abnormality of the cheek
0/20
HP: 0004452
Abnormality of the middle ear ossicles
0/20
HP: 0004459
Exostosis of the external auditory canal
0/20
HP: 0004880
Respiratory infections in early life
0/20
HP: 0005019
Diaphyseal thickening
0/20
HP: 0005216
Impaired mastication
0/20
HP: 0005368
Abnormality of humoral immunity
0/20
HP: 0005420
Recurrent gram-negative bacterial infections
0/20
HP: 0005453
Absent/hypoplastic paranasal sinuses
0/20
HP: 0005464
Craniofacial osteosclerosis
0/20
HP: 0005482
Abnormality of the alternative complement pathway
0/20
HP: 0005534
Transient myeloproliferative syndrome
0/20
HP: 0005547
Myeloproliferative disorder
0/20
HP: 0005650
Cutaneous syndactyly between fingers 2 and 5
0/20
HP: 0005746
Osteosclerosis of the base of the skull
0/20
HP: 0006846
Acute encephalopathy
0/20
HP: 0006897
Cranial nerve VI palsy
0/20
HP: 0006934
Congenital nystagmus
0/20
HP: 0006943
Diffuse spongiform leukoencephalopathy
0/20
HP: 0006946
Recurrent meningitis
0/20
HP: 0006958
Abnormal auditory evoked potentials
0/20
HP: 0006965
Acute necrotizing encephalopathy
0/20
HP: 0007209
Facial paralysis
0/20
HP: 0007274
Recurrent bacterial meningitis
0/20
HP: 0007286
Horizontal jerk nystagmus
0/20
HP: 0007367
Atrophy/Degeneration affecting the central nervous system
0/20
HP: 0007670
Abnormal vestibulo-ocular reflex
0/20
HP: 0007892
Hypoplasia of the lacrimal punctum
0/20
HP: 0008066
Abnormal blistering of the skin
0/20
HP: 0008069
Neoplasm of the skin
0/20
HP: 0008223
Compensated hypothyroidism
0/20
HP: 0008513
Bilateral conductive hearing impairment
0/20
HP: 0008519
Abnormality of the coccyx
0/20
HP: 0008527
Congenital sensorineural hearing impairment
0/20
HP: 0008542
Low-frequency hearing loss
0/20
HP: 0008554
Cochlear malformation
0/20
HP: 0008573
Low-frequency sensorineural hearing impairment
0/20
HP: 0008591
Congenital conductive hearing impairment
0/20
HP: 0008598
Mild conductive hearing impairment
0/20
HP: 0008619
Bilateral sensorineural hearing impairment
0/20
HP: 0008625
Severe sensorineural hearing impairment
0/20
HP: 0008628
Abnormality of the stapes
0/20
HP: 0008629
Pulsatile tinnitus
0/20
HP: 0009116
Aplasia/Hypoplasia involving bones of the skull
0/20
HP: 0009120
Aplasia/Hypoplasia involving the sinuses
0/20
HP: 0009121
Abnormal axial skeleton morphology
0/20
HP: 0009122
Aplasia/hypoplasia affecting bones of the axial skeleton
0/20
HP: 0009591
Abnormality of the vestibulocochlear nerve
0/20
HP: 0009704
Chronic CSF lymphocytosis
0/20
HP: 0009911
Abnormal temporal bone morphology
0/20
HP: 0010307
Stridor
0/20
HP: 0010530
Palatal myoclonus
0/20
HP: 0010532
Paroxysmal vertigo
0/20
HP: 0010542
Vestibular nystagmus
0/20
HP: 0010544
Vertical nystagmus
0/20
HP: 0010554
Cutaneous finger syndactyly
0/20
HP: 0010775
Vascular ring
0/20
HP: 0010974
Abnormal myeloid leukocyte morphology
0/20
HP: 0010987
Abnormal cellular immune system morphology
0/20
HP: 0010990
Abnormality of the common coagulation pathway
0/20
HP: 0011001
Increased bone mineral density
0/20
HP: 0011025
Abnormal cardiovascular system physiology
0/20
HP: 0011032
Abnormality of fluid regulation
0/20
HP: 0011108
Recurrent sinusitis
0/20
HP: 0011109
Chronic sinusitis
0/20
HP: 0011348
Abnormality of the sixth cranial nerve
0/20
HP: 0011349
Abducens palsy
0/20
HP: 0011370
Recurrent cutaneous fungal infections
0/20
HP: 0011373
Incomplete partition of the cochlea
0/20
HP: 0011376
Morphological abnormality of the vestibule of the inner ear
0/20
HP: 0011380
Morphological abnormality of the semicircular canal
0/20
HP: 0011381
Aplasia of the semicircular canal
0/20
HP: 0011384
Abnormality of the internal auditory canal
0/20
HP: 0011386
Narrow internal auditory canal
0/20
HP: 0011390
Morphological abnormality of the inner ear
0/20
HP: 0011443
Abnormality of coordination
0/20
HP: 0011446
Abnormality of higher mental function
0/20
HP: 0011450
Unusual CNS infection
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: 0011479
Abnormal lacrimal punctum morphology
0/20
HP: 0011587
Abnormal branching pattern of the aortic arch
0/20
HP: 0011821
Abnormality of facial skeleton
0/20
HP: 0011843
Abnormality of skeletal physiology
0/20
HP: 0011893
Abnormal leukocyte count
0/20
HP: 0011898
Abnormality of circulating fibrinogen
0/20
HP: 0011947
Respiratory tract infection
0/20
HP: 0012179
Craniofacial dystonia
0/20
HP: 0012190
T-cell lymphoma
0/20
HP: 0012192
Cutaneous T-cell lymphoma
0/20
HP: 0012203
Onychomycosis
0/20
HP: 0012204
Recurrent vulvovaginal candidiasis
0/20
HP: 0012229
CSF pleocytosis
0/20
HP: 0012322
Perifolliculitis
0/20
HP: 0012372
Abnormal eye morphology
0/20
HP: 0012373
Abnormal eye physiology
0/20
HP: 0012393
Allergy
0/20
HP: 0012539
Non-Hodgkin lymphoma
0/20
HP: 0012547
Abnormal involuntary eye movements
0/20
HP: 0012638
Abnormal nervous system physiology
0/20
HP: 0012640
Abnormality of intracranial pressure
0/20
HP: 0012641
Decreased intracranial pressure
0/20
HP: 0012712
Mild hearing impairment
0/20
HP: 0012714
Severe hearing impairment
0/20
HP: 0012717
Severe conductive hearing impairment
0/20
HP: 0012758
Neurodevelopmental delay
0/20
HP: 0012779
Transient hearing impairment
0/20
HP: 0012799
Unilateral facial palsy
0/20
HP: 0012852
Hepatic bridging fibrosis
0/20
HP: 0020064
Abnormal eosinophil count
0/20
HP: 0020100
Unusual fungal infection
0/20
HP: 0020101
Invasive fungal infection
0/20
HP: 0020103
Invasive pulmonary aspergillosis
0/20
HP: 0020108
Unusual parasitic infection
0/20
HP: 0020123
Tympanosclerosis
0/20
HP: 0020169
Abnormal drug response
0/20
HP: 0020173
Reduced drug efficacy
0/20
HP: 0025031
Abnormality of the digestive system
0/20
HP: 0025033
Abnormality of digestive system morphology
0/20
HP: 0025268
Stuttering
0/20
HP: 0030012
Abnormal female reproductive system physiology
0/20
HP: 0030084
Clinodactyly
0/20
HP: 0030177
Abnormality of peripheral nervous system electrophysiology
0/20
HP: 0030350
Erythematous papule
0/20
HP: 0030669
Abnormal ocular adnexa morphology
0/20
HP: 0030680
Abnormality of cardiovascular system morphology
0/20
HP: 0030775
Modic type vertebral endplate changes
0/20
HP: 0030776
Modic type I vertebral endplate changes
0/20
HP: 0030787
Cerumen abnormality
0/20
HP: 0030788
Impacted cerumen
0/20
HP: 0030789
Excessive cerumen
0/20
HP: 0030829
Abnormal breath sound
0/20
HP: 0030885
Recurrent parasitic infections
0/20
HP: 0030947
Conjunctival follicles
0/20
HP: 0031002
Neuritis
0/20
HP: 0031071
Abnormal endocrine morphology
0/20
HP: 0031072
Abnormal endocrine physiology
0/20
HP: 0031321
Myocardial immune cell infiltration
0/20
HP: 0031322
Myocardial lymphocytic infiltration
0/20
HP: 0031353
Otitis media with effusion
0/20
HP: 0031466
Impairment in personality functioning
0/20
HP: 0031549
Lymphocytoma cutis
0/20
HP: 0031690
Opportunistic infection
0/20
HP: 0031691
Severe viral infection
0/20
HP: 0031696
Disseminated viral infection
0/20
HP: 0031815
Abnormal oral physiology
0/20
HP: 0031816
Abnormal oral morphology
0/20
HP: 0031826
Abnormal reflex
0/20
HP: 0031910
Abnormal cranial nerve physiology
0/20
HP: 0031983
Abnormal pulmonary thoracic imaging finding
0/20
HP: 0032039
Abnormality of the ocular adnexa
0/20
HP: 0032061
Hypereosinophilia
0/20
HP: 0032071
Pulmonary eosinophilic infiltration
0/20
HP: 0032101
Unusual infection
0/20
HP: 0032158
Unusual infection by anatomical site
0/20
HP: 0032159
Fungal meningitis
0/20
HP: 0032161
Coccidioidal meningitis
0/20
HP: 0032162
Unusual skin infection
0/20
HP: 0032169
Severe infection
0/20
HP: 0032172
Air crescent sign
0/20
HP: 0032249
Coccidioidomycosis
0/20
HP: 0032251
Abnormal immune system morphology
0/20
HP: 0032255
Opportunistic fungal infection
0/20
HP: 0032256
Histoplasmosis
0/20
HP: 0032309
Abnormal granulocyte count
0/20
HP: 0032516
Invasive dermatophyte infection
0/20
HP: 0040016
Prominent coccyx
0/20
HP: 0040017
Protruding coccyx
0/20
HP: 0040088
Abnormal lymphocyte count
0/20
HP: 0040090
Abnormality of the tympanic membrane
0/20
HP: 0040095
Neoplasm of the outer ear
0/20
HP: 0040096
Neoplasm of the inner ear
0/20
HP: 0040113
Old-aged sensorineural hearing impairment
0/20
HP: 0040115
Abnormality of the Eustachian tube
0/20
HP: 0040262
Glue ear
0/20
HP: 0040269
Blocked Eustachian tube
0/20
HP: 0040312
Temporomandibular arthritis
0/20
HP: 0045010
Abnormality of peripheral nerves
0/20
HP: 0045080
Decreased proportion of CD3-positive T cells
0/20
HP: 0100007
Neoplasm of the peripheral nervous system
0/20
HP: 0100256
Senile plaques
0/20
HP: 0100276
Skin pit
0/20
HP: 0100326
Immunologic hypersensitivity
0/20
HP: 0100547
Abnormality of forebrain morphology
0/20
HP: 0100662
Chondritis
0/20
HP: 0100703
Tongue thrusting
0/20
HP: 0100736
Abnormal soft palate morphology
0/20
HP: 0100763
Abnormality of the lymphatic system
0/20
HP: 0100765
Abnormality of the tonsils
0/20
HP: 0200034
Papule
0/20
HP: 0200149
CSF lymphocytic pleiocytosis
0/20
HP: 0410017
Otitis externa
0/20
HP: 0410042
Abnormal liver morphology
0/20
HP: 0500028
Cotton wool plaques
0/20