Overview
Clinical genetics evidence
Regulatory regions
Phenotypic analysis
KO mouse phenotypes
Functional enrichment analysis
Tissue expression patterns
Protein interaction
Biomedical literature
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Overlap with reference CNV databases (Link)
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Comparison CNV size with other CNVs databases
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Pathway analysis
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Gene-disease association
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Overlap with CNV Syndromes
Overlap with pathogenic/likely pathogenic CNVs (DECIPHER & ClinVar)
Overlap with non-pathogenic CNVs
Overlap with disease-associated genes from different databases
Overlap with disease genes
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Overlap with disease & non-disease genes
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Disease-associated variants
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Disease evidence
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Disease & non-disease target genes from overlapping regulatory elements
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Overlapping enhancers
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Conservation - Phast100way histogram
Conservation - Phast46way placental histogram
Conservation - Phast46way primates histogram
Overlapping micro-RNAs (miRNAs)
Overlapping Transcription factors (TFs)
Overlapping long noncoding RNAs (lncRNAs)
Overlapping Topologically Associating Domains (TADs)
Protein interaction network
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Protein Expression (Human Protein Atlas)
Top 10 most frequent HP terms (gene annotation)
Top 10 most frequent anatomical entities (gene annotation)
Indicate here phenotype terms of the patient
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Abnormality of body height - HP:0000002
Multicystic kidney dysplasia - HP:0000003
Abnormal morphology of female internal genitalia - HP:0000008
Functional abnormality of the bladder - HP:0000009
Recurrent urinary tract infections - HP:0000010
Neurogenic bladder - HP:0000011
Urinary urgency - HP:0000012
Hypoplasia of the uterus - HP:0000013
Abnormality of the bladder - HP:0000014
Bladder diverticulum - HP:0000015
Urinary retention - HP:0000016
Nocturia - HP:0000017
Urinary hesitancy - HP:0000019
Urinary incontinence - HP:0000020
Megacystis - HP:0000021
Abnormality of male internal genitalia - HP:0000022
Inguinal hernia - HP:0000023
Prostatitis - HP:0000024
Functional abnormality of male internal genitalia - HP:0000025
Male hypogonadism - HP:0000026
Azoospermia - HP:0000027
Cryptorchidism - HP:0000028
Testicular atrophy - HP:0000029
Testicular gonadoblastoma - HP:0000030
Epididymitis - HP:0000031
Abnormality of male external genitalia - HP:0000032
Ambiguous genitalia, male - HP:0000033
Hydrocele testis - HP:0000034
Abnormal testis morphology - HP:0000035
Abnormality of the penis - HP:0000036
Male pseudohermaphroditism - HP:0000037
Epispadias - HP:0000039
Long penis - HP:0000040
Chordee - HP:0000041
Absent external genitalia - HP:0000042
Hypogonadotropic hypogonadism - HP:0000044
Abnormality of the scrotum - HP:0000045
Scrotal hypoplasia - HP:0000046
Hypospadias - HP:0000047
Bifid scrotum - HP:0000048
Shawl scrotum - HP:0000049
Hypoplastic male external genitalia - HP:0000050
Perineal hypospadias - HP:0000051
Urethral atresia, male - HP:0000052
Macroorchidism - HP:0000053
Micropenis - HP:0000054
Abnormality of female external genitalia - HP:0000055
Abnormality of the clitoris - HP:0000056
obsolete Clitoromegaly - HP:0000057
Abnormality of the labia - HP:0000058
Hypoplastic labia majora - HP:0000059
Clitoral hypoplasia - HP:0000060
Ambiguous genitalia, female - HP:0000061
Ambiguous genitalia - HP:0000062
Fused labia minora - HP:0000063
Hypoplastic labia minora - HP:0000064
Labial hypertrophy - HP:0000065
Labial hypoplasia - HP:0000066
Urethral atresia, female - HP:0000067
Urethral atresia - HP:0000068
Abnormality of the ureter - HP:0000069
Ureterocele - HP:0000070
Ureteral stenosis - HP:0000071
Hydroureter - HP:0000072
Ureteral duplication - HP:0000073
Ureteropelvic junction obstruction - HP:0000074
Renal duplication - HP:0000075
Vesicoureteral reflux - HP:0000076
Abnormality of the kidney - HP:0000077
Abnormality of the genital system - HP:0000078
Abnormality of the urinary system - HP:0000079
Abnormality of reproductive system physiology - HP:0000080
Duplicated collecting system - HP:0000081
Renal insufficiency - HP:0000083
Horseshoe kidney - HP:0000085
Ectopic kidney - HP:0000086
Renal hypoplasia - HP:0000089
Nephronophthisis - HP:0000090
Abnormal renal tubule morphology - HP:0000091
Renal tubular atrophy - HP:0000092
Proteinuria - HP:0000093
Abnormality of renal glomerulus morphology - HP:0000095
Glomerulosclerosis - HP:0000096
Focal segmental glomerulosclerosis - HP:0000097
Tall stature - HP:0000098
Glomerulonephritis - HP:0000099
Nephrotic syndrome - HP:0000100
Polyuria - HP:0000103
Renal agenesis - HP:0000104
Enlarged kidney - HP:0000105
Renal cyst - HP:0000107
Renal corticomedullary cysts - HP:0000108
Renal dysplasia - HP:0000110
Renal juxtaglomerular cell hypertrophy/hyperplasia - HP:0000111
Nephropathy - HP:0000112
Polycystic kidney dysplasia - HP:0000113
Proximal tubulopathy - HP:0000114
Renal phosphate wasting - HP:0000117
Phenotypic abnormality - HP:0000118
Abnormality of the genitourinary system - HP:0000119
Nephrocalcinosis - HP:0000121
Unilateral renal agenesis - HP:0000122
Nephritis - HP:0000123
Renal tubular dysfunction - HP:0000124
Pelvic kidney - HP:0000125
Hydronephrosis - HP:0000126
Renal salt wasting - HP:0000127
Renal potassium wasting - HP:0000128
Abnormality of the uterus - HP:0000130
Uterine leiomyoma - HP:0000131
Menorrhagia - HP:0000132
Gonadal dysgenesis - HP:0000133
Female hypogonadism - HP:0000134
Hypogonadism - HP:0000135
Bifid uterus - HP:0000136
Abnormality of the ovary - HP:0000137
Ovarian cyst - HP:0000138
Uterine prolapse - HP:0000139
Abnormality of the menstrual cycle - HP:0000140
Amenorrhea - HP:0000141
Abnormal vagina morphology - HP:0000142
Rectovaginal fistula - HP:0000143
Decreased fertility - HP:0000144
Transverse vaginal septum - HP:0000145
Polycystic ovaries - HP:0000147
Vaginal atresia - HP:0000148
Ovarian gonadoblastoma - HP:0000149
Gonadoblastoma - HP:0000150
Aplasia of the uterus - HP:0000151
Abnormality of head or neck - HP:0000152
Abnormality of the mouth - HP:0000153
Wide mouth - HP:0000154
Oral ulcer - HP:0000155
Abnormality of the tongue - HP:0000157
Macroglossia - HP:0000158
Abnormal lip morphology - HP:0000159
Narrow mouth - HP:0000160
Median cleft lip - HP:0000161
Glossoptosis - HP:0000162
Abnormal oral cavity morphology - HP:0000163
Abnormality of the dentition - HP:0000164
Severe periodontitis - HP:0000166
Abnormality of the gingiva - HP:0000168
Gingival fibromatosis - HP:0000169
Microglossia - HP:0000171
Abnormality of the uvula - HP:0000172
Abnormal palate morphology - HP:0000174
Cleft palate - HP:0000175
Submucous cleft hard palate - HP:0000176
Abnormality of upper lip - HP:0000177
Abnormality of lower lip - HP:0000178
Thick lower lip vermilion - HP:0000179
Lobulated tongue - HP:0000180
Movement abnormality of the tongue - HP:0000182
Difficulty in tongue movements - HP:0000183
Cleft soft palate - HP:0000185
Broad alveolar ridges - HP:0000187
Short upper lip - HP:0000188
Narrow palate - HP:0000189
Abnormal oral frenulum morphology - HP:0000190
Accessory oral frenulum - HP:0000191
Bifid uvula - HP:0000193
Open mouth - HP:0000194
Lower lip pit - HP:0000196
Abnormal parotid gland morphology - HP:0000197
Absence of Stensen duct - HP:0000198
Tongue nodules - HP:0000199
Short lingual frenulum - HP:0000200
Pierre-Robin sequence - HP:0000201
Oral cleft - HP:0000202
Cleft upper lip - HP:0000204
Pursed lips - HP:0000205
Glossitis - HP:0000206
Triangular mouth - HP:0000207
Trismus - HP:0000211
Gingival overgrowth - HP:0000212
Lip telangiectasia - HP:0000214
Thick upper lip vermilion - HP:0000215
Broad secondary alveolar ridge - HP:0000216
Xerostomia - HP:0000217
High palate - HP:0000218
Thin upper lip vermilion - HP:0000219
Velopharyngeal insufficiency - HP:0000220
Furrowed tongue - HP:0000221
Gingival hyperkeratosis - HP:0000222
Abnormality of taste sensation - HP:0000223
Decreased taste sensation - HP:0000224
Gingival bleeding - HP:0000225
Tongue telangiectasia - HP:0000227
Oral cavity telangiectasia - HP:0000228
Gingivitis - HP:0000230
Everted lower lip vermilion - HP:0000232
Thin vermilion border - HP:0000233
Abnormality of the head - HP:0000234
Abnormality of the fontanelles or cranial sutures - HP:0000235
Abnormality of the anterior fontanelle - HP:0000236
Small anterior fontanelle - HP:0000237
Hydrocephalus - HP:0000238
Large fontanelles - HP:0000239
Abnormality of skull size - HP:0000240
Parietal bossing - HP:0000242
Trigonocephaly - HP:0000243
Brachyturricephaly - HP:0000244
Abnormality of the paranasal sinuses - HP:0000245
Sinusitis - HP:0000246
Brachycephaly - HP:0000248
Dense calvaria - HP:0000250
Microcephaly - HP:0000252
Progressive microcephaly - HP:0000253
Acute sinusitis - HP:0000255
Macrocephaly - HP:0000256
Wide anterior fontanel - HP:0000260
Turricephaly - HP:0000262
Oxycephaly - HP:0000263
Abnormality of the mastoid - HP:0000264
Mastoiditis - HP:0000265
Cranial asymmetry - HP:0000267
Dolichocephaly - HP:0000268
Prominent occiput - HP:0000269
Delayed cranial suture closure - HP:0000270
Abnormality of the face - HP:0000271
Malar flattening - HP:0000272
Facial grimacing - HP:0000273
Small face - HP:0000274
Narrow face - HP:0000275
Long face - HP:0000276
Abnormality of the mandible - HP:0000277
Retrognathia - HP:0000278
Coarse facial features - HP:0000280
Facial edema - HP:0000282
Broad face - HP:0000283
obsolete Abnormality of the ocular region - HP:0000284
Epicanthus - HP:0000286
Increased facial adipose tissue - HP:0000287
Abnormality of the philtrum - HP:0000288
Broad philtrum - HP:0000289
Abnormality of the forehead - HP:0000290
Abnormality of facial adipose tissue - HP:0000291
Loss of facial adipose tissue - HP:0000292
Full cheeks - HP:0000293
Low anterior hairline - HP:0000294
Doll-like facies - HP:0000295
Facial hypotonia - HP:0000297
Mask-like facies - HP:0000298
Oval face - HP:0000300
Abnormality of facial musculature - HP:0000301
Mandibular prognathia - HP:0000303
Abnormality of the chin - HP:0000306
Pointed chin - HP:0000307
Microretrognathia - HP:0000308
Abnormality of the midface - HP:0000309
Round face - HP:0000311
Abnormality of the orbital region - HP:0000315
Hypertelorism - HP:0000316
Facial myokymia - HP:0000317
Smooth philtrum - HP:0000319
Bird-like facies - HP:0000320
Square face - HP:0000321
Short philtrum - HP:0000322
Facial asymmetry - HP:0000324
Triangular face - HP:0000325
Abnormality of the maxilla - HP:0000326
Hypoplasia of the maxilla - HP:0000327
Facial hemangioma - HP:0000329
Short chin - HP:0000331
Prominent supraorbital ridges - HP:0000336
Broad forehead - HP:0000337
Hypomimic face - HP:0000338
Pugilistic facies - HP:0000339
Sloping forehead - HP:0000340
Narrow forehead - HP:0000341
Long philtrum - HP:0000343
Whistling appearance - HP:0000346
Micrognathia - HP:0000347
High forehead - HP:0000348
Widow's peak - HP:0000349
Small forehead - HP:0000350
Abnormality of the outer ear - HP:0000356
Abnormal location of ears - HP:0000357
Posteriorly rotated ears - HP:0000358
Abnormality of the inner ear - HP:0000359
Tinnitus - HP:0000360
obsolete Pulsatile tinnitus (tympanic paraganglioma) - HP:0000361
Otosclerosis - HP:0000362
Abnormality of earlobe - HP:0000363
Hearing abnormality - HP:0000364
Hearing impairment - HP:0000365
Abnormality of the nose - HP:0000366
Low-set, posteriorly rotated ears - HP:0000368
Low-set ears - HP:0000369
Abnormality of the middle ear - HP:0000370
Acute otitis media - HP:0000371
Abnormality of the auditory canal - HP:0000372
Abnormal cochlea morphology - HP:0000375
Incomplete partition of the cochlea type II - HP:0000376
Abnormality of the pinna - HP:0000377
Cupped ear - HP:0000378
Stapes ankylosis - HP:0000381
Abnormality of periauricular region - HP:0000383
Preauricular skin tag - HP:0000384
Small earlobe - HP:0000385
Absent earlobe - HP:0000387
Otitis media - HP:0000388
Chronic otitis media - HP:0000389
Thickened helices - HP:0000391
Lop ear - HP:0000394
Prominent antihelix - HP:0000395
Overfolded helix - HP:0000396
Prelingual sensorineural hearing impairment - HP:0000399
Macrotia - HP:0000400
Stenosis of the external auditory canal - HP:0000402
Recurrent otitis media - HP:0000403
Conductive hearing impairment - HP:0000405
Sensorineural hearing impairment - HP:0000407
Progressive sensorineural hearing impairment - HP:0000408
Mixed hearing impairment - HP:0000410
Protruding ear - HP:0000411
Atresia of the external auditory canal - HP:0000413
Bulbous nose - HP:0000414
Abnormality of the choanae - HP:0000415
Slender nose - HP:0000417
Narrow nasal ridge - HP:0000418
Abnormality of the nasal septum - HP:0000419
Short nasal septum - HP:0000420
Epistaxis - HP:0000421
Abnormality of the nasal bridge - HP:0000422
Prominent nasal bridge - HP:0000426
Abnormality of the nasal alae - HP:0000429
Underdeveloped nasal alae - HP:0000430
Wide nasal bridge - HP:0000431
Abnormality of the nasal mucosa - HP:0000433
Nasal mucosa telangiectasia - HP:0000434
Abnormality of the nasal tip - HP:0000436
Depressed nasal tip - HP:0000437
Convex nasal ridge - HP:0000444
Wide nose - HP:0000445
Narrow nasal bridge - HP:0000446
Pear-shaped nose - HP:0000447
Prominent nose - HP:0000448
Triangular nasal tip - HP:0000451
Choanal stenosis - HP:0000452
Choanal atresia - HP:0000453
Flared nostrils - HP:0000454
Broad nasal tip - HP:0000455
Bifid nasal tip - HP:0000456
Depressed nasal ridge - HP:0000457
Anosmia - HP:0000458
Narrow nose - HP:0000460
Anteverted nares - HP:0000463
Abnormality of the neck - HP:0000464
Webbed neck - HP:0000465
Limited neck range of motion - HP:0000466
Neck muscle weakness - HP:0000467
Increased adipose tissue around the neck - HP:0000468
Short neck - HP:0000470
Gastrointestinal angiodysplasia - HP:0000471
Long neck - HP:0000472
Torticollis - HP:0000473
Thickened nuchal skin fold - HP:0000474
Broad neck - HP:0000475
Cystic hygroma - HP:0000476
Abnormality of the eye - HP:0000478
Abnormal retinal morphology - HP:0000479
Retinal coloboma - HP:0000480
Abnormal cornea morphology - HP:0000481
Microcornea - HP:0000482
Astigmatism - HP:0000483
Hyperopic astigmatism - HP:0000484
Megalocornea - HP:0000485
Strabismus - HP:0000486
obsolete Congenital strabismus - HP:0000487
Retinopathy - HP:0000488
obsolete Abnormality of globe location or size - HP:0000489
Deeply set eye - HP:0000490
Keratitis - HP:0000491
Abnormal eyelid morphology - HP:0000492
Abnormal foveal morphology - HP:0000493
Downslanted palpebral fissures - HP:0000494
Recurrent corneal erosions - HP:0000495
Abnormality of eye movement - HP:0000496
Globe retraction and deviation on abduction - HP:0000497
Blepharitis - HP:0000498
Abnormal eyelash morphology - HP:0000499
Glaucoma - HP:0000501
Abnormal conjunctiva morphology - HP:0000502
Tortuosity of conjunctival vessels - HP:0000503
Abnormality of vision - HP:0000504
Visual impairment - HP:0000505
Telecanthus - HP:0000506
Ptosis - HP:0000508
Conjunctivitis - HP:0000509
Rod-cone dystrophy - HP:0000510
Vertical supranuclear gaze palsy - HP:0000511
Abnormal electroretinogram - HP:0000512
Slow saccadic eye movements - HP:0000514
Abnormality of the lens - HP:0000517
Cataract - HP:0000518
Developmental cataract - HP:0000519
Proptosis - HP:0000520
Alacrima - HP:0000522
Subcapsular cataract - HP:0000523
Conjunctival telangiectasia - HP:0000524
Abnormality iris morphology - HP:0000525
Aniridia - HP:0000526
Long eyelashes - HP:0000527
Anophthalmia - HP:0000528
Progressive visual loss - HP:0000529
Corneal crystals - HP:0000531
Abnormal chorioretinal morphology - HP:0000532
Chorioretinal atrophy - HP:0000533
Abnormal eyebrow morphology - HP:0000534
Sparse and thin eyebrow - HP:0000535
Epicanthus inversus - HP:0000537
Pseudopapilledema - HP:0000538
Abnormality of refraction - HP:0000539
Hypermetropia - HP:0000540
Retinal detachment - HP:0000541
Impaired ocular adduction - HP:0000542
Optic disc pallor - HP:0000543
External ophthalmoplegia - HP:0000544
Myopia - HP:0000545
Retinal degeneration - HP:0000546
obsolete Tapetoretinal degeneration - HP:0000547
Cone/cone-rod dystrophy - HP:0000548
Abnormal conjugate eye movement - HP:0000549
Undetectable electroretinogram - HP:0000550
Color vision defect - HP:0000551
Tritanomaly - HP:0000552
Abnormal uvea morphology - HP:0000553
Uveitis - HP:0000554
Leukocoria - HP:0000555
Retinal dystrophy - HP:0000556
Buphthalmos - HP:0000557
Rieger anomaly - HP:0000558
Corneal scarring - HP:0000559
Absent eyelashes - HP:0000561
Keratoconus - HP:0000563
Lacrimal duct atresia - HP:0000564
Esotropia - HP:0000565
Chorioretinal coloboma - HP:0000567
Microphthalmia - HP:0000568
Abnormal saccadic eye movements - HP:0000570
Hypometric saccades - HP:0000571
Visual loss - HP:0000572
Retinal hemorrhage - HP:0000573
Thick eyebrow - HP:0000574
Scotoma - HP:0000575
Centrocecal scotoma - HP:0000576
Exotropia - HP:0000577
Nasolacrimal duct obstruction - HP:0000579
Pigmentary retinopathy - HP:0000580
Blepharophimosis - HP:0000581
Upslanted palpebral fissure - HP:0000582
Punctate corneal epithelial erosions - HP:0000584
Band keratopathy - HP:0000585
Shallow orbits - HP:0000586
Abnormality of the optic nerve - HP:0000587
Optic nerve coloboma - HP:0000588
Coloboma - HP:0000589
Progressive external ophthalmoplegia - HP:0000590
Abnormal sclera morphology - HP:0000591
Blue sclerae - HP:0000592
Abnormal anterior chamber morphology - HP:0000593
Shallow anterior chamber - HP:0000594
Ophthalmoparesis - HP:0000597
Abnormality of the ear - HP:0000598
Abnormality of the frontal hairline - HP:0000599
Abnormality of the pharynx - HP:0000600
Hypotelorism - HP:0000601
Ophthalmoplegia - HP:0000602
Central scotoma - HP:0000603
Supranuclear gaze palsy - HP:0000605
Abnormality of the periorbital region - HP:0000606
Periorbital wrinkles - HP:0000607
Macular degeneration - HP:0000608
Optic nerve hypoplasia - HP:0000609
Abnormal choroid morphology - HP:0000610
obsolete Choroid coloboma - HP:0000611
Iris coloboma - HP:0000612
Photophobia - HP:0000613
Abnormal nasolacrimal system morphology - HP:0000614
Abnormal pupil morphology - HP:0000615
Miosis - HP:0000616
Abnormality of ocular smooth pursuit - HP:0000617
Blindness - HP:0000618
Impaired convergence - HP:0000619
Dacryocystitis - HP:0000620
Entropion - HP:0000621
Blurred vision - HP:0000622
Supranuclear ophthalmoplegia - HP:0000623
Eyelid coloboma - HP:0000625
Posterior embryotoxon - HP:0000627
Periorbital fullness - HP:0000629
Abnormal retinal artery morphology - HP:0000630
Retinal arterial tortuosity - HP:0000631
Lacrimation abnormality - HP:0000632
Decreased lacrimation - HP:0000633
Impaired ocular abduction - HP:0000634
Blue irides - HP:0000635
Upper eyelid coloboma - HP:0000636
Long palpebral fissure - HP:0000637
Nystagmus - HP:0000639
Gaze-evoked nystagmus - HP:0000640
Dysmetric saccades - HP:0000641
Red-green dyschromatopsia - HP:0000642
Blepharospasm - HP:0000643
Amblyopia - HP:0000646
Sclerocornea - HP:0000647
Optic atrophy - HP:0000648
Abnormality of visual evoked potentials - HP:0000649
Abnormal amplitude of pattern reversal visual evoked potentials - HP:0000650
Diplopia - HP:0000651
Lower eyelid coloboma - HP:0000652
Sparse eyelashes - HP:0000653
Decreased light- and dark-adapted electroretinogram amplitude - HP:0000654
obsolete Vitreoretinal degeneration - HP:0000655
Ectropion - HP:0000656
Oculomotor apraxia - HP:0000657
Eyelid apraxia - HP:0000658
Peters anomaly - HP:0000659
Lipemia retinalis - HP:0000660
Palpebral fissure narrowing on adduction - HP:0000661
Nyctalopia - HP:0000662
Synophrys - HP:0000664
Horizontal nystagmus - HP:0000666
Phthisis bulbi - HP:0000667
Hypodontia - HP:0000668
Carious teeth - HP:0000670
Anodontia - HP:0000674
Macrodontia of permanent maxillary central incisor - HP:0000675
Abnormality of the incisor - HP:0000676
Oligodontia - HP:0000677
Dental crowding - HP:0000678
Taurodontia - HP:0000679
Delayed eruption of primary teeth - HP:0000680
Abnormality of dental enamel - HP:0000682
Grayish enamel - HP:0000683
Delayed eruption of teeth - HP:0000684
Hypoplasia of teeth - HP:0000685
Widely spaced teeth - HP:0000687
Dental malocclusion - HP:0000689
Agenesis of maxillary lateral incisor - HP:0000690
Microdontia - HP:0000691
Misalignment of teeth - HP:0000692
Shell teeth - HP:0000694
Natal tooth - HP:0000695
Delayed eruption of permanent teeth - HP:0000696
Conical tooth - HP:0000698
Diastema - HP:0000699
Periapical bone loss - HP:0000700
Dentinogenesis imperfecta - HP:0000703
Periodontitis - HP:0000704
Amelogenesis imperfecta - HP:0000705
Unerupted tooth - HP:0000706
Abnormality of the nervous system - HP:0000707
Behavioral abnormality - HP:0000708
Psychosis - HP:0000709
Hyperorality - HP:0000710
Restlessness - HP:0000711
Emotional lability - HP:0000712
Agitation - HP:0000713
Depressivity - HP:0000716
Autism - HP:0000717
Aggressive behavior - HP:0000718
Inappropriate behavior - HP:0000719
Mood swings - HP:0000720
Lack of spontaneous play - HP:0000721
Obsessive-compulsive behavior - HP:0000722
Restrictive behavior - HP:0000723
Psychotic episodes - HP:0000725
Dementia - HP:0000726
Frontal lobe dementia - HP:0000727
Impaired ability to form peer relationships - HP:0000728
Autistic behavior - HP:0000729
Inflexible adherence to routines or rituals - HP:0000732
Stereotypy - HP:0000733
Disinhibition - HP:0000734
Impaired social interactions - HP:0000735
Short attention span - HP:0000736
Irritability - HP:0000737
Hallucinations - HP:0000738
Anxiety - HP:0000739
Episodic paroxysmal anxiety - HP:0000740
Apathy - HP:0000741
Self-mutilation - HP:0000742
Frontal release signs - HP:0000743
Low frustration tolerance - HP:0000744
Diminished motivation - HP:0000745
Delusions - HP:0000746
Inappropriate laughter - HP:0000748
Paroxysmal bursts of laughter - HP:0000749
Delayed speech and language development - HP:0000750
Personality changes - HP:0000751
Hyperactivity - HP:0000752
Autism with high cognitive abilities - HP:0000753
Agoraphobia - HP:0000756
Lack of insight - HP:0000757
Impaired use of nonverbal behaviors - HP:0000758
Abnormal peripheral nervous system morphology - HP:0000759
Decreased nerve conduction velocity - HP:0000762
Sensory neuropathy - HP:0000763
Peripheral axonal degeneration - HP:0000764
Abnormality of the thorax - HP:0000765
Abnormality of the sternum - HP:0000766
Pectus excavatum - HP:0000767
Pectus carinatum - HP:0000768
Abnormality of the breast - HP:0000769
Gynecomastia - HP:0000771
Abnormality of the ribs - HP:0000772
Short ribs - HP:0000773
Narrow chest - HP:0000774
Abnormality of the diaphragm - HP:0000775
Congenital diaphragmatic hernia - HP:0000776
Abnormality of the thymus - HP:0000777
Hypoplasia of the thymus - HP:0000778
Abnormality of the scapula - HP:0000782
Primary amenorrhea - HP:0000786
Nephrolithiasis - HP:0000787
Infertility - HP:0000789
Hematuria - HP:0000790
Uric acid nephrolithiasis - HP:0000791
Membranoproliferative glomerulonephritis - HP:0000793
IgA deposition in the glomerulus - HP:0000794
Abnormality of the urethra - HP:0000795
Urethral obstruction - HP:0000796
Oligospermia - HP:0000798
Renal steatosis - HP:0000799
Cystic renal dysplasia - HP:0000800
Impotence - HP:0000802
Renal cortical cysts - HP:0000803
Xanthine nephrolithiasis - HP:0000804
Enuresis - HP:0000805
Glandular hypospadias - HP:0000807
Penoscrotal hypospadias - HP:0000808
Urinary tract atresia - HP:0000809
Abnormal external genitalia - HP:0000811
Abnormal internal genitalia - HP:0000812
Bicornuate uterus - HP:0000813
Hypergonadotropic hypogonadism - HP:0000815
Abnormality of Krebs cycle metabolism - HP:0000816
Poor eye contact - HP:0000817
Abnormality of the endocrine system - HP:0000818
Diabetes mellitus - HP:0000819
Abnormality of the thyroid gland - HP:0000820
Hypothyroidism - HP:0000821
Hypertension - HP:0000822
Delayed puberty - HP:0000823
Growth hormone deficiency - HP:0000824
Hyperinsulinemic hypoglycemia - HP:0000825
Precocious puberty - HP:0000826
Abnormality of the parathyroid gland - HP:0000828
Hypoparathyroidism - HP:0000829
Anterior hypopituitarism - HP:0000830
Insulin-resistant diabetes mellitus - HP:0000831
Primary hypothyroidism - HP:0000832
obsolete Glucose intolerance - HP:0000833
Abnormality of the adrenal glands - HP:0000834
Adrenal hypoplasia - HP:0000835
Hyperthyroidism - HP:0000836
Increased circulating gonadotropin level - HP:0000837
Pituitary dwarfism - HP:0000839
Adrenogenital syndrome - HP:0000840
Hyperactive renin-angiotensin system - HP:0000841
Hyperinsulinemia - HP:0000842
Hyperparathyroidism - HP:0000843
Growth hormone excess - HP:0000845
Adrenal insufficiency - HP:0000846
Abnormality of renin-angiotensin system - HP:0000847
Increased circulating renin level - HP:0000848
Adrenocortical abnormality - HP:0000849
Congenital hypothyroidism - HP:0000851
Pseudohypoparathyroidism - HP:0000852
Goiter - HP:0000853
Thyroid adenoma - HP:0000854
Insulin resistance - HP:0000855
Neonatal insulin-dependent diabetes mellitus - HP:0000857
Irregular menstruation - HP:0000858
Hyperaldosteronism - HP:0000859
Parathyroid hypoplasia - HP:0000860
Central diabetes insipidus - HP:0000863
Abnormality of the hypothalamus-pituitary axis - HP:0000864
Euthyroid multinodular goiter - HP:0000866
Secondary hyperparathyroidism - HP:0000867
Decreased fertility in females - HP:0000868
Secondary amenorrhea - HP:0000869
Increased circulating prolactin concentration - HP:0000870
Panhypopituitarism - HP:0000871
Hashimoto thyroiditis - HP:0000872
Diabetes insipidus - HP:0000873
Episodic hypertension - HP:0000875
Oligomenorrhea - HP:0000876
Insulin-resistant diabetes mellitus at puberty - HP:0000877
11 pairs of ribs - HP:0000878
Short sternum - HP:0000879
Hypoplastic scapulae - HP:0000882
Thin ribs - HP:0000883
Prominent sternum - HP:0000884
Broad ribs - HP:0000885
Deformed rib cage - HP:0000886
Cupped ribs - HP:0000887
Horizontal ribs - HP:0000888
Abnormality of the clavicle - HP:0000889
Long clavicles - HP:0000890
Cervical ribs - HP:0000891
Bifid ribs - HP:0000892
Bulging of the costochondral junction - HP:0000893
Short clavicles - HP:0000894
Lateral clavicle hook - HP:0000895
Rib exostoses - HP:0000896
Rachitic rosary - HP:0000897
Thickened ribs - HP:0000900
Rib fusion - HP:0000902
Flaring of rib cage - HP:0000904
Progressive clavicular acroosteolysis - HP:0000905
Anterior rib cupping - HP:0000907
Wide-cupped costochondral junctions - HP:0000910
Flat glenoid fossa - HP:0000911
Sprengel anomaly - HP:0000912
Posterior rib fusion - HP:0000913
Shield chest - HP:0000914
Pectus excavatum of inferior sternum - HP:0000915
Broad clavicles - HP:0000916
Superior pectus carinatum - HP:0000917
Scapular exostoses - HP:0000918
Abnormality of the costochondral junction - HP:0000919
Enlargement of the costochondral junction - HP:0000920
Missing ribs - HP:0000921
Posterior rib cupping - HP:0000922
Beaded ribs - HP:0000923
Abnormality of the skeletal system - HP:0000924
Abnormality of the vertebral column - HP:0000925
Platyspondyly - HP:0000926
Abnormality of skeletal maturation - HP:0000927
Abnormal skull morphology - HP:0000929
Elevated imprint of the transverse sinuses - HP:0000930
Thinning and bulging of the posterior fossa bones - HP:0000931
Abnormality of the posterior cranial fossa - HP:0000932
Posterior fossa cyst at the fourth ventricle - HP:0000933
Chondrocalcinosis - HP:0000934
Thickened cortex of long bones - HP:0000935
Osteopenia - HP:0000938
Osteoporosis - HP:0000939
Abnormal diaphysis morphology - HP:0000940
Short diaphyses - HP:0000941
Dysostosis multiplex - HP:0000943
Abnormality of the metaphysis - HP:0000944
Hypoplastic ilia - HP:0000946
Dumbbell-shaped long bone - HP:0000947
Abnormality of the skin - HP:0000951
Jaundice - HP:0000952
Hyperpigmentation of the skin - HP:0000953
Single transverse palmar crease - HP:0000954
Acanthosis nigricans - HP:0000956
Cafe-au-lait spot - HP:0000957
Dry skin - HP:0000958
Sacral dimple - HP:0000960
Cyanosis - HP:0000961
Hyperkeratosis - HP:0000962
Thin skin - HP:0000963
Eczema - HP:0000964
Cutis marmorata - HP:0000965
Hypohidrosis - HP:0000966
Petechiae - HP:0000967
Ectodermal dysplasia - HP:0000968
Edema - HP:0000969
Anhidrosis - HP:0000970
Abnormal sweat gland morphology - HP:0000971
Palmoplantar hyperkeratosis - HP:0000972
Cutis laxa - HP:0000973
Hyperextensible skin - HP:0000974
Hyperhidrosis - HP:0000975
Eczematoid dermatitis - HP:0000976
Soft skin - HP:0000977
Bruising susceptibility - HP:0000978
Purpura - HP:0000979
Pallor - HP:0000980
Palmoplantar keratoderma - HP:0000982
Atypical scarring of skin - HP:0000987
Skin rash - HP:0000988
Pruritus - HP:0000989
Xanthomatosis - HP:0000991
Cutaneous photosensitivity - HP:0000992
Molluscoid pseudotumors - HP:0000993
Melanocytic nevus - HP:0000995
Facial capillary hemangioma - HP:0000996
Axillary freckling - HP:0000997
Hypertrichosis - HP:0000998
Pyoderma - HP:0000999
Abnormality of skin pigmentation - HP:0001000
Abnormality of subcutaneous fat tissue - HP:0001001
obsolete Decreased subcutaneous fat - HP:0001002
Multiple lentigines - HP:0001003
Lymphedema - HP:0001004
Dermatological manifestations of systemic disorders - HP:0001005
obsolete Hypotrichosis - HP:0001006
Hirsutism - HP:0001007
Accumulation of melanosomes in melanocytes - HP:0001008
Telangiectasia - HP:0001009
Hypopigmentation of the skin - HP:0001010
obsolete Diaphoresis (with pheochromocytoma) - HP:0001011
Multiple lipomas - HP:0001012
Eruptive xanthomas - HP:0001013
Angiokeratoma - HP:0001014
Prominent superficial veins - HP:0001015
Anemic pallor - HP:0001017
Abnormal palmar dermatoglyphics - HP:0001018
Erythroderma - HP:0001019
Albinism - HP:0001022
Skin dimple over apex of long bone angulation - HP:0001024
Urticaria - HP:0001025
Penetrating foot ulcers - HP:0001026
Soft, doughy skin - HP:0001027
Hemangioma - HP:0001028
Poikiloderma - HP:0001029
Fragile skin - HP:0001030
Subcutaneous lipoma - HP:0001031
Absent distal interphalangeal creases - HP:0001032
Facial flushing after alcohol intake - HP:0001033
Hypermelanotic macule - HP:0001034
Parakeratosis - HP:0001036
Warfarin-induced skin necrosis - HP:0001038
Atheroeruptive xanthoma - HP:0001039
Multiple pterygia - HP:0001040
Facial erythema - HP:0001041
High axial triradius - HP:0001042
Prominent scalp veins - HP:0001043
Vitiligo - HP:0001045
Intermittent jaundice - HP:0001046
Atopic dermatitis - HP:0001047
Cavernous hemangioma - HP:0001048
Absent dorsal skin creases over affected joints - HP:0001049
Plethora - HP:0001050
Seborrheic dermatitis - HP:0001051
Nevus flammeus - HP:0001052
Hypopigmented skin patches - HP:0001053
Numerous nevi - HP:0001054
Erysipelas - HP:0001055
Milia - HP:0001056
Aplasia cutis congenita - HP:0001057
Poor wound healing - HP:0001058
Pterygium - HP:0001059
Axillary pterygium - HP:0001060
Acne - HP:0001061
Atypical nevus - HP:0001062
Acrocyanosis - HP:0001063
Striae distensae - HP:0001065
Neurofibromas - HP:0001067
Episodic hyperhidrosis - HP:0001069
Mottled pigmentation - HP:0001070
Angiokeratoma corporis diffusum - HP:0001071
Thickened skin - HP:0001072
Cigarette-paper scars - HP:0001073
Atypical nevi in non-sun exposed areas - HP:0001074
Atrophic scars - HP:0001075
Glabellar hemangioma - HP:0001076
Biliary tract abnormality - HP:0001080
Cholelithiasis - HP:0001081
Cholecystitis - HP:0001082
Ectopia lentis - HP:0001083
Corneal arcus - HP:0001084
Papilledema - HP:0001085
Developmental glaucoma - HP:0001087
Brushfield spots - HP:0001088
Iris atrophy - HP:0001089
Abnormally large globe - HP:0001090
Absent lacrimal punctum - HP:0001092
Optic nerve dysplasia - HP:0001093
Iridocyclitis - HP:0001094
Hypertensive retinopathy - HP:0001095
Keratoconjunctivitis - HP:0001096
Keratoconjunctivitis sicca - HP:0001097
Abnormal fundus morphology - HP:0001098
Fundus atrophy - HP:0001099
Heterochromia iridis - HP:0001100
Iritis - HP:0001101
Angioid streaks of the fundus - HP:0001102
Abnormal macular morphology - HP:0001103
Macular hypoplasia - HP:0001104
Retinal atrophy - HP:0001105
Periorbital hyperpigmentation - HP:0001106
Ocular albinism - HP:0001107
Leber optic atrophy - HP:0001112
obsolete Early cataracts - HP:0001113
Xanthelasma - HP:0001114
Posterior polar cataract - HP:0001115
Macular coloboma - HP:0001116
Sudden loss of visual acuity - HP:0001117
Juvenile cataract - HP:0001118
Keratoglobus - HP:0001119
Abnormality of corneal size - HP:0001120
obsolete Aplasia/Hypoplasia of the choroid - HP:0001122
Visual field defect - HP:0001123
Transient unilateral blurring of vision - HP:0001125
Cryptophthalmos - HP:0001126
Trichiasis - HP:0001128
Large central visual field defect - HP:0001129
Corneal dystrophy - HP:0001131
Lens subluxation - HP:0001132
Constriction of peripheral visual field - HP:0001133
Anterior polar cataract - HP:0001134
Chorioretinal dystrophy - HP:0001135
Retinal arteriolar tortuosity - HP:0001136
Alternating esotropia - HP:0001137
Optic neuropathy - HP:0001138
Choroideremia - HP:0001139
Limbal dermoid - HP:0001140
Severely reduced visual acuity - HP:0001141
Lenticonus - HP:0001142
Orbital cyst - HP:0001144
obsolete Chorioretinopathy - HP:0001145
obsolete Pigmentary retinal degeneration - HP:0001146
Retinal exudate - HP:0001147
Lattice corneal dystrophy - HP:0001149
obsolete Choroidal sclerosis - HP:0001150
Impaired horizontal smooth pursuit - HP:0001151
Saccadic smooth pursuit - HP:0001152
Septate vagina - HP:0001153
Abnormality of the hand - HP:0001155
Brachydactyly - HP:0001156
Syndactyly - HP:0001159
Hand polydactyly - HP:0001161
Postaxial hand polydactyly - HP:0001162
Abnormality of the metacarpal bones - HP:0001163
Arachnodactyly - HP:0001166
Abnormality of finger - HP:0001167
Broad palm - HP:0001169
Split hand - HP:0001171
Abnormal thumb morphology - HP:0001172
Large hands - HP:0001176
Preaxial hand polydactyly - HP:0001177
Ulnar claw - HP:0001178
Hand oligodactyly - HP:0001180
Adducted thumb - HP:0001181
Tapered finger - HP:0001182
Hyperextensibility of the finger joints - HP:0001187
Hand clenching - HP:0001188
Abnormality of the carpal bones - HP:0001191
Ulnar deviation of the hand or of fingers of the hand - HP:0001193
Abnormalities of placenta or umbilical cord - HP:0001194
Single umbilical artery - HP:0001195
Short umbilical cord - HP:0001196
Abnormality of prenatal development or birth - HP:0001197
Triphalangeal thumb - HP:0001199
Distal symphalangism of hands - HP:0001204
Abnormal fingertip morphology - HP:0001211
Prominent fingertip pads - HP:0001212
Camptodactyly of 2nd-5th fingers - HP:0001215
Delayed ossification of carpal bones - HP:0001216
Clubbing - HP:0001217
Autoamputation - HP:0001218
Interphalangeal joint contracture of finger - HP:0001220
Spatulate thumbs - HP:0001222
Pointed proximal second through fifth metacarpals - HP:0001223
Wrist swelling - HP:0001225
obsolete Acral ulceration and osteomyelitis leading to autoamputation of digits - HP:0001226
Abnormality of the thenar eminence - HP:0001227
Broad metacarpals - HP:0001230
Abnormal fingernail morphology - HP:0001231
Nail bed telangiectasia - HP:0001232
2-3 finger syndactyly - HP:0001233
Hitchhiker thumb - HP:0001234
Slender finger - HP:0001238
Wrist flexion contracture - HP:0001239
Capitate-hamate fusion - HP:0001241
Small thenar eminence - HP:0001245
Short tubular bones of the hand - HP:0001248
Intellectual disability - HP:0001249
Seizure - HP:0001250
Ataxia - HP:0001251
Muscular hypotonia - HP:0001252
Lethargy - HP:0001254
Intellectual disability, mild - HP:0001256
Spasticity - HP:0001257
Spastic paraplegia - HP:0001258
Coma - HP:0001259
Dysarthria - HP:0001260
Excessive daytime somnolence - HP:0001262
Global developmental delay - HP:0001263
Spastic diplegia - HP:0001264
Hyporeflexia - HP:0001265
Choreoathetosis - HP:0001266
Mental deterioration - HP:0001268
Hemiparesis - HP:0001269
Motor delay - HP:0001270
Polyneuropathy - HP:0001271
Cerebellar atrophy - HP:0001272
Abnormal corpus callosum morphology - HP:0001273
Agenesis of corpus callosum - HP:0001274
Hypertonia - HP:0001276
Orthostatic hypotension - HP:0001278
Syncope - HP:0001279
Tetany - HP:0001281
Bulbar palsy - HP:0001283
Areflexia - HP:0001284
Spastic tetraparesis - HP:0001285
Meningitis - HP:0001287
Gait disturbance - HP:0001288
Confusion - HP:0001289
Generalized hypotonia - HP:0001290
Abnormal cranial nerve morphology - HP:0001291
Cranial nerve compression - HP:0001293
Stroke - HP:0001297
Encephalopathy - HP:0001298
Parkinsonism - HP:0001300
Chronic sensorineural polyneuropathy - HP:0001301
Pachygyria - HP:0001302
Torsion dystonia - HP:0001304
Dandy-Walker malformation - HP:0001305
Tongue fasciculations - HP:0001308
Dysmetria - HP:0001310
Abnormal nervous system electrophysiology - HP:0001311
Giant somatosensory evoked potentials - HP:0001312
Reduced tendon reflexes - HP:0001315
Abnormal cerebellum morphology - HP:0001317
Neonatal hypotonia - HP:0001319
Cerebellar vermis hypoplasia - HP:0001320
Cerebellar hypoplasia - HP:0001321
obsolete Brain very small - HP:0001322
Muscle weakness - HP:0001324
Hypoglycemic coma - HP:0001325
EEG with irregular generalized spike and wave complexes - HP:0001326
Photosensitive myoclonic seizure - HP:0001327
Specific learning disability - HP:0001328
Absent septum pellucidum - HP:0001331
Dystonia - HP:0001332
Communicating hydrocephalus - HP:0001334
Bimanual synkinesia - HP:0001335
Myoclonus - HP:0001336
Tremor - HP:0001337
Partial agenesis of the corpus callosum - HP:0001338
Lissencephaly - HP:0001339
Enhancement of the C-reflex - HP:0001340
Olfactory lobe agenesis - HP:0001341
Cerebral hemorrhage - HP:0001342
Kernicterus - HP:0001343
Absent speech - HP:0001344
Psychotic mentation - HP:0001345
Hyperreflexia - HP:0001347
Brisk reflexes - HP:0001348
Facial diplegia - HP:0001349
Slurred speech - HP:0001350
Jerk-locked premyoclonus spikes - HP:0001351
Megalencephaly - HP:0001355
Plagiocephaly - HP:0001357
Holoprosencephaly - HP:0001360
Nystagmus-induced head nodding - HP:0001361
Calvarial skull defect - HP:0001362
Craniosynostosis - HP:0001363
Abnormal joint morphology - HP:0001367
Arthritis - HP:0001369
Rheumatoid arthritis - HP:0001370
Flexion contracture - HP:0001371
Joint dislocation - HP:0001373
Congenital hip dislocation - HP:0001374
Limitation of joint mobility - HP:0001376
Limited elbow extension - HP:0001377
obsolete Degenerative joint disease - HP:0001379
obsolete Ligamentous laxity - HP:0001380
Joint hypermobility - HP:0001382
Abnormality of the hip joint - HP:0001384
Hip dysplasia - HP:0001385
Joint swelling - HP:0001386
Joint stiffness - HP:0001387
Joint laxity - HP:0001388
Abnormality of the liver - HP:0001392
Cirrhosis - HP:0001394
Hepatic fibrosis - HP:0001395
Cholestasis - HP:0001396
Hepatic steatosis - HP:0001397
Hepatic failure - HP:0001399
obsolete Hepatic abscesses due to immunodeficiency - HP:0001400
Intrahepatic biliary dysgenesis - HP:0001401
Hepatocellular carcinoma - HP:0001402
Macrovesicular hepatic steatosis - HP:0001403
Hepatocellular necrosis - HP:0001404
Periportal fibrosis - HP:0001405
Intrahepatic cholestasis - HP:0001406
Hepatic cysts - HP:0001407
Bile duct proliferation - HP:0001408
Portal hypertension - HP:0001409
Decreased liver function - HP:0001410
Enteroviral hepatitis - HP:0001412
Micronodular cirrhosis - HP:0001413
Microvesicular hepatic steatosis - HP:0001414
X-linked inheritance - HP:0001417
X-linked recessive inheritance - HP:0001419
Abnormality of the musculature of the hand - HP:0001421
X-linked dominant inheritance - HP:0001423
Abnormality of the calf musculature - HP:0001430
Hepatosplenomegaly - HP:0001433
Abnormality of the shoulder girdle musculature - HP:0001435
Abnormality of the foot musculature - HP:0001436
Abnormality of the musculature of the lower limbs - HP:0001437
Abnormality of abdomen morphology - HP:0001438
Metatarsal synostosis - HP:0001440
Abnormality of the musculature of the thigh - HP:0001441
Somatic mosaicism - HP:0001442
Abnormality of the gluteal musculature - HP:0001443
Autosomal dominant somatic cell mutation - HP:0001444
Abnormality of the hip-girdle musculature - HP:0001445
Abnormality of the musculature of the upper limbs - HP:0001446
Duplication of metatarsal bones - HP:0001449
Y-linked inheritance - HP:0001450
Autosomal dominant contiguous gene syndrome - HP:0001452
Abnormality of the upper arm - HP:0001454
Abnormality of the musculature of the upper arm - HP:0001457
1-3 toe syndactyly - HP:0001459
Aplasia/Hypoplasia involving the skeletal musculature - HP:0001460
Aplasia/Hypoplasia involving the shoulder musculature - HP:0001464
Amyotrophy involving the shoulder musculature - HP:0001465
Aplasia/Hypoplasia involving the musculature of the upper limbs - HP:0001467
Aplasia/Hypoplasia involving the musculature of the upper arm - HP:0001468
Abnormal morphology of the pelvis musculature - HP:0001469
Sex-limited autosomal dominant - HP:0001470
Aplasia/Hypoplasia of the musculature of the pelvis - HP:0001471
obsolete Familial predisposition - HP:0001472
Metatarsal osteolysis - HP:0001473
Sclerotic scapulae - HP:0001474
Male-limited autosomal dominant - HP:0001475
Delayed closure of the anterior fontanelle - HP:0001476
Compensatory chin elevation - HP:0001477
Freckling - HP:0001480
Subcutaneous nodule - HP:0001482
Eye poking - HP:0001483
obsolete Hypopigmented fundi - HP:0001487
Bilateral ptosis - HP:0001488
Posterior vitreous detachment - HP:0001489
Congenital fibrosis of extraocular muscles - HP:0001491
Axenfeld anomaly - HP:0001492
Falciform retinal fold - HP:0001493
Carpal osteolysis - HP:0001495
Carpal bone hypoplasia - HP:0001498
Broad finger - HP:0001500
6 metacarpals - HP:0001501
Metacarpal osteolysis - HP:0001504
Growth abnormality - HP:0001507
Failure to thrive - HP:0001508
Growth delay - HP:0001510
Intrauterine growth retardation - HP:0001511
Obesity - HP:0001513
Small for gestational age - HP:0001518
Disproportionate tall stature - HP:0001519
Large for gestational age - HP:0001520
Death in infancy - HP:0001522
Severe failure to thrive - HP:0001525
Hemihypertrophy - HP:0001528
Mild postnatal growth retardation - HP:0001530
Failure to thrive in infancy - HP:0001531
Slender build - HP:0001533
Umbilical hernia - HP:0001537
Protuberant abdomen - HP:0001538
Omphalocele - HP:0001539
Diastasis recti - HP:0001540
Ascites - HP:0001541
Gastroschisis - HP:0001543
Prominent umbilicus - HP:0001544
Anteriorly placed anus - HP:0001545
Abnormality of the rib cage - HP:0001547
Overgrowth - HP:0001548
Abnormal ileum morphology - HP:0001549
Abnormal umbilicus morphology - HP:0001551
Barrel-shaped chest - HP:0001552
Asymmetry of the thorax - HP:0001555
Prenatal movement abnormality - HP:0001557
Decreased fetal movement - HP:0001558
Abnormality of the amniotic fluid - HP:0001560
Polyhydramnios - HP:0001561
Oligohydramnios - HP:0001562
Fetal polyuria - HP:0001563
Widely-spaced maxillary central incisors - HP:0001566
Multiple impacted teeth - HP:0001571
Macrodontia - HP:0001572
Abnormality of the integument - HP:0001574
Mood changes - HP:0001575
Primary hypercortisolism - HP:0001579
Pigmented micronodular adrenocortical disease - HP:0001580
Recurrent skin infections - HP:0001581
Redundant skin - HP:0001582
Rotary nystagmus - HP:0001583
Vesicovaginal fistula - HP:0001586
obsolete Primary ovarian failure - HP:0001587
Bell-shaped thorax - HP:0001591
Selective tooth agenesis - HP:0001592
Maxillary lateral incisor microdontia - HP:0001593
Abnormal hair morphology - HP:0001595
Alopecia - HP:0001596
Abnormality of the nail - HP:0001597
Concave nail - HP:0001598
Abnormality of the larynx - HP:0001600
Laryngomalacia - HP:0001601
Laryngeal stenosis - HP:0001602
Vocal cord paresis - HP:0001604
Vocal cord paralysis - HP:0001605
obsolete Vocal cord paralysis (caused by tumor impingement) - HP:0001606
Subglottic stenosis - HP:0001607
Abnormality of the voice - HP:0001608
Hoarse voice - HP:0001609
Nasal speech - HP:0001611
Weak cry - HP:0001612
obsolete Hoarse voice (caused by tumor impingement) - HP:0001613
Hoarse cry - HP:0001615
Dysphonia - HP:0001618
High pitched voice - HP:0001620
Weak voice - HP:0001621
Premature birth - HP:0001622
Breech presentation - HP:0001623
Abnormality of the cardiovascular system - HP:0001626
Abnormal heart morphology - HP:0001627
Ventricular septal defect - HP:0001629
Atrial septal defect - HP:0001631
Abnormal mitral valve morphology - HP:0001633
Mitral valve prolapse - HP:0001634
Congestive heart failure - HP:0001635
Tetralogy of Fallot - HP:0001636
Abnormal myocardium morphology - HP:0001637
Cardiomyopathy - HP:0001638
Hypertrophic cardiomyopathy - HP:0001639
Cardiomegaly - HP:0001640
Abnormal pulmonary valve morphology - HP:0001641
Pulmonic stenosis - HP:0001642
Patent ductus arteriosus - HP:0001643
Dilated cardiomyopathy - HP:0001644
Sudden cardiac death - HP:0001645
Abnormal aortic valve morphology - HP:0001646
Bicuspid aortic valve - HP:0001647
Cor pulmonale - HP:0001648
Tachycardia - HP:0001649
Aortic valve stenosis - HP:0001650
Dextrocardia - HP:0001651
Mitral regurgitation - HP:0001653
Abnormal heart valve morphology - HP:0001654
Patent foramen ovale - HP:0001655
Prolonged QT interval - HP:0001657
Myocardial infarction - HP:0001658
Aortic regurgitation - HP:0001659
Truncus arteriosus - HP:0001660
Bradycardia - HP:0001662
Ventricular fibrillation - HP:0001663
Torsade de pointes - HP:0001664
Right ventricular hypertrophy - HP:0001667
Transposition of the great arteries - HP:0001669
Asymmetric septal hypertrophy - HP:0001670
Abnormal cardiac septum morphology - HP:0001671
obsolete Tachycardia (with pheochromocytoma) - HP:0001673
Complete atrioventricular canal defect - HP:0001674
obsolete Rhythm disturbances associated with pheochromocytoma - HP:0001675
obsolete Palpitations (with pheochromocytoma) - HP:0001676
Coronary artery atherosclerosis - HP:0001677
Atrioventricular block - HP:0001678
Abnormal aortic morphology - HP:0001679
Coarctation of aorta - HP:0001680
Angina pectoris - HP:0001681
Subvalvular aortic stenosis - HP:0001682
Ectopia cordis - HP:0001683
Secundum atrial septal defect - HP:0001684
Myocardial fibrosis - HP:0001685
Loss of voice - HP:0001686
Sinus bradycardia - HP:0001688
Muscular subvalvular aortic stenosis - HP:0001691
Atrial arrhythmia - HP:0001692
Cardiac shunt - HP:0001693
Right-to-left shunt - HP:0001694
Cardiac arrest - HP:0001695
Situs inversus totalis - HP:0001696
Abnormal pericardium morphology - HP:0001697
Pericardial effusion - HP:0001698
Sudden death - HP:0001699
Myocardial necrosis - HP:0001700
Pericarditis - HP:0001701
Abnormal tricuspid valve morphology - HP:0001702
Tricuspid valve prolapse - HP:0001704
Right ventricular outlet tract obstruction - HP:0001705
Endocardial fibroelastosis - HP:0001706
Abnormal right ventricle morphology - HP:0001707
Right ventricular failure - HP:0001708
Third degree atrioventricular block - HP:0001709
Conotruncal defect - HP:0001710
Abnormal left ventricle morphology - HP:0001711
Left ventricular hypertrophy - HP:0001712
Abnormal cardiac ventricle morphology - HP:0001713
Ventricular hypertrophy - HP:0001714
Wolff-Parkinson-White syndrome - HP:0001716
Coronary artery calcification - HP:0001717
Mitral stenosis - HP:0001718
Double outlet right ventricle - HP:0001719
High-output congestive heart failure - HP:0001722
Restrictive cardiomyopathy - HP:0001723
obsolete Aortic dilatation - HP:0001724
obsolete Increased prevalence of valvular disease - HP:0001726
Thromboembolic stroke - HP:0001727
Progressive hearing impairment - HP:0001730
Abnormality of the pancreas - HP:0001732
Pancreatitis - HP:0001733
Annular pancreas - HP:0001734
Acute pancreatitis - HP:0001735
Pancreatic cysts - HP:0001737
Exocrine pancreatic insufficiency - HP:0001738
Abnormality of the nasopharynx - HP:0001739
Phimosis - HP:0001741
Nasal obstruction - HP:0001742
Abnormality of the spleen - HP:0001743
Splenomegaly - HP:0001744
Asplenia - HP:0001746
Accessory spleen - HP:0001747
Polysplenia - HP:0001748
Single ventricle - HP:0001750
Vestibular dysfunction - HP:0001751
Vestibular hypofunction - HP:0001756
High-frequency sensorineural hearing impairment - HP:0001757
Abnormality of the foot - HP:0001760
Pes cavus - HP:0001761
Talipes equinovarus - HP:0001762
Pes planus - HP:0001763
Hammertoe - HP:0001765
Broad foot - HP:0001769
Toe syndactyly - HP:0001770
Achilles tendon contracture - HP:0001771
Talipes equinovalgus - HP:0001772
Short foot - HP:0001773
Tarsal osteovalgus - HP:0001775
Bilateral talipes equinovarus - HP:0001776
Abnormality of toe - HP:0001780
Bulbous tips of toes - HP:0001782
Broad metatarsal - HP:0001783
Ankle swelling - HP:0001785
Narrow foot - HP:0001786
Abnormal delivery - HP:0001787
Premature rupture of membranes - HP:0001788
Hydrops fetalis - HP:0001789
Nonimmune hydrops fetalis - HP:0001790
Fetal ascites - HP:0001791
Small nail - HP:0001792
Hyperconvex nail - HP:0001795
Anonychia - HP:0001798
Short nail - HP:0001799
Hypoplastic toenails - HP:0001800
Absent toenail - HP:0001802
Nail pits - HP:0001803
Hypoplastic fingernail - HP:0001804
Onychogryposis - HP:0001805
Onycholysis - HP:0001806
Ridged nail - HP:0001807
Fragile nails - HP:0001808
Split nail - HP:0001809
Dystrophic toenail - HP:0001810
Hyperconvex fingernails - HP:0001812
Deep-set nails - HP:0001814
Thin nail - HP:0001816
Absent fingernail - HP:0001817
Paronychia - HP:0001818
Leukonychia - HP:0001820
Broad nail - HP:0001821
Hallux valgus - HP:0001822
Weight loss - HP:0001824
Genital tract atresia - HP:0001827
Foot polydactyly - HP:0001829
Postaxial foot polydactyly - HP:0001830
Short toe - HP:0001831
Abnormal metatarsal morphology - HP:0001832
Long foot - HP:0001833
Camptodactyly of toe - HP:0001836
Broad toe - HP:0001837
Rocker bottom foot - HP:0001838
Split foot - HP:0001839
Metatarsus adductus - HP:0001840
Preaxial foot polydactyly - HP:0001841
Foot acroosteolysis - HP:0001842
Abnormality of the hallux - HP:0001844
Overlapping toe - HP:0001845
Long hallux - HP:0001847
Calcaneovalgus deformity - HP:0001848
Foot oligodactyly - HP:0001849
Abnormality of the tarsal bones - HP:0001850
Sandal gap - HP:0001852
Bifid distal phalanx of toe - HP:0001853
Podagra - HP:0001854
Short distal phalanx of toe - HP:0001857
Distal foot symphalangism - HP:0001859
obsolete Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) - HP:0001862
Toe clinodactyly - HP:0001863
Clinodactyly of the 5th toe - HP:0001864
Autoamputation of foot - HP:0001868
Deep plantar creases - HP:0001869
Acroosteolysis of distal phalanges (feet) - HP:0001870
Abnormality of blood and blood-forming tissues - HP:0001871
Abnormal thrombocyte morphology - HP:0001872
Thrombocytopenia - HP:0001873
Abnormality of neutrophils - HP:0001874
Neutropenia - HP:0001875
Pancytopenia - HP:0001876
Abnormal erythrocyte morphology - HP:0001877
Hemolytic anemia - HP:0001878
Abnormal eosinophil morphology - HP:0001879
Eosinophilia - HP:0001880
Abnormal leukocyte morphology - HP:0001881
Leukopenia - HP:0001882
Talipes - HP:0001883
Talipes calcaneovalgus - HP:0001884
Short 2nd toe - HP:0001885
Foot osteomyelitis - HP:0001886
Lymphopenia - HP:0001888
Megaloblastic anemia - HP:0001889
Autoimmune hemolytic anemia - HP:0001890
Iron deficiency anemia - HP:0001891
Abnormal bleeding - HP:0001892
Thrombocytosis - HP:0001894
Normochromic anemia - HP:0001895
Reticulocytopenia - HP:0001896
Normocytic anemia - HP:0001897
Increased red blood cell mass - HP:0001898
Increased hematocrit - HP:0001899
Increased hemoglobin - HP:0001900
Polycythemia - HP:0001901
Giant platelets - HP:0001902
Anemia - HP:0001903
Neutropenia in presence of anti-neutropil antibodies - HP:0001904
Congenital thrombocytopenia - HP:0001905
Thromboembolism - HP:0001907
Hypoplastic anemia - HP:0001908
Leukemia - HP:0001909
Abnormal granulocyte morphology - HP:0001911
Abnormal basophil morphology - HP:0001912
Granulocytopenia - HP:0001913
Aplastic anemia - HP:0001915
Renal amyloidosis - HP:0001917
Acute kidney injury - HP:0001919
Renal artery stenosis - HP:0001920
Vacuolated lymphocytes - HP:0001922
Reticulocytosis - HP:0001923
Sideroblastic anemia - HP:0001924
Acanthocytosis - HP:0001927
Abnormality of coagulation - HP:0001928
Reduced factor XI activity - HP:0001929
Nonspherocytic hemolytic anemia - HP:0001930
Hypochromic anemia - HP:0001931
Subcutaneous hemorrhage - HP:0001933
Persistent bleeding after trauma - HP:0001934
Microcytic anemia - HP:0001935
Microangiopathic hemolytic anemia - HP:0001937
Abnormality of metabolism/homeostasis - HP:0001939
Acidosis - HP:0001941
Metabolic acidosis - HP:0001942
Hypoglycemia - HP:0001943
Dehydration - HP:0001944
Fever - HP:0001945
Ketosis - HP:0001946
Renal tubular acidosis - HP:0001947
Alkalosis - HP:0001948
Hypokalemic alkalosis - HP:0001949
Respiratory alkalosis - HP:0001950
Episodic ammonia intoxication - HP:0001951
Glucose intolerance - HP:0001952
Diabetic ketoacidosis - HP:0001953
Recurrent fever - HP:0001954
Unexplained fevers - HP:0001955
Truncal obesity - HP:0001956
Nonketotic hypoglycemia - HP:0001958
Polydipsia - HP:0001959
Hypokalemic metabolic alkalosis - HP:0001960
Hypoplastic heart - HP:0001961
Palpitations - HP:0001962
Abnormal speech discrimination - HP:0001963
Aplasia/Hypoplasia of metatarsal bones - HP:0001964
Abnormality of the scalp - HP:0001965
Mesangial abnormality - HP:0001966
Diffuse mesangial sclerosis - HP:0001967
Abnormal tubulointerstitial morphology - HP:0001969
Tubulointerstitial nephritis - HP:0001970
Hypersplenism - HP:0001971
Macrocytic anemia - HP:0001972
Autoimmune thrombocytopenia - HP:0001973
Leukocytosis - HP:0001974
Decreased platelet glycoprotein IIb-IIIa - HP:0001975
Reduced antithrombin III activity - HP:0001976
Abnormal thrombosis - HP:0001977
Extramedullary hematopoiesis - HP:0001978
Megaloblastic bone marrow - HP:0001980
Schistocytosis - HP:0001981
Sea-blue histiocytosis - HP:0001982
Reduced lymphocyte surface expression of CD43 - HP:0001983
Intolerance to protein - HP:0001984
Hypoketotic hypoglycemia - HP:0001985
Hypertonic dehydration - HP:0001986
Hyperammonemia - HP:0001987
Recurrent hypoglycemia - HP:0001988
Fetal akinesia sequence - HP:0001989
Aplasia/Hypoplasia of toe - HP:0001991
Organic aciduria - HP:0001992
Ketoacidosis - HP:0001993
Renal Fanconi syndrome - HP:0001994
Hyperchloremic acidosis - HP:0001995
Chronic metabolic acidosis - HP:0001996
Gout - HP:0001997
Neonatal hypoglycemia - HP:0001998
Abnormal facial shape - HP:0001999
Short columella - HP:0002000
Deep philtrum - HP:0002002
Large forehead - HP:0002003
Facial cleft - HP:0002006
Frontal bossing - HP:0002007
Potter facies - HP:0002009
Narrow maxilla - HP:0002010
Morphological central nervous system abnormality - HP:0002011
Abnormality of the abdominal organs - HP:0002012
Vomiting - HP:0002013
Diarrhea - HP:0002014
Dysphagia - HP:0002015
Nausea and vomiting - HP:0002017
Nausea - HP:0002018
Constipation - HP:0002019
Gastroesophageal reflux - HP:0002020
Pyloric stenosis - HP:0002021
Anal atresia - HP:0002023
Malabsorption - HP:0002024
Anal stenosis - HP:0002025
Abdominal pain - HP:0002027
Chronic diarrhea - HP:0002028
Abnormal esophagus morphology - HP:0002031
Esophageal atresia - HP:0002032
Poor suck - HP:0002033
Abnormality of the rectum - HP:0002034
Rectal prolapse - HP:0002035
Hiatus hernia - HP:0002036
Inflammation of the large intestine - HP:0002037
Protein avoidance - HP:0002038
Anorexia - HP:0002039
Esophageal varix - HP:0002040
Intractable diarrhea - HP:0002041
Esophageal stricture - HP:0002043
Zollinger-Ellison syndrome - HP:0002044
Hypothermia - HP:0002045
Heat intolerance - HP:0002046
Malignant hyperthermia - HP:0002047
Renal cortical atrophy - HP:0002048
Proximal renal tubular acidosis - HP:0002049
Macroorchidism, postpubertal - HP:0002050
Heavy supraorbital ridges - HP:0002054
Curved linear dimple below the lower lip - HP:0002055
Abnormality of the glabella - HP:0002056
Prominent glabella - HP:0002057
Myopathic facies - HP:0002058
Cerebral atrophy - HP:0002059
Abnormal cerebral morphology - HP:0002060
Lower limb spasticity - HP:0002061
Morphological abnormality of the pyramidal tract - HP:0002062
Rigidity - HP:0002063
Spastic gait - HP:0002064
Gait ataxia - HP:0002066
Bradykinesia - HP:0002067
Neuromuscular dysphagia - HP:0002068
Bilateral tonic-clonic seizure - HP:0002069
Limb ataxia - HP:0002070
Abnormality of extrapyramidal motor function - HP:0002071
Chorea - HP:0002072
Progressive cerebellar ataxia - HP:0002073
Increased neuronal autofluorescent lipopigment - HP:0002074
Dysdiadochokinesis - HP:0002075
Migraine - HP:0002076
Migraine with aura - HP:0002077
Truncal ataxia - HP:0002078
Hypoplasia of the corpus callosum - HP:0002079
Intention tremor - HP:0002080
Migraine without aura - HP:0002083
Encephalocele - HP:0002084
Occipital encephalocele - HP:0002085
Abnormality of the respiratory system - HP:0002086
Abnormality of the upper respiratory tract - HP:0002087
Abnormal lung morphology - HP:0002088
Pulmonary hypoplasia - HP:0002089
Pneumonia - HP:0002090
Restrictive ventilatory defect - HP:0002091
Pulmonary arterial hypertension - HP:0002092
Respiratory insufficiency - HP:0002093
Dyspnea - HP:0002094
Emphysema - HP:0002097
Respiratory distress - HP:0002098
Asthma - HP:0002099
Recurrent aspiration pneumonia - HP:0002100
Abnormal lung lobation - HP:0002101
Pleuritis - HP:0002102
Abnormality of the pleura - HP:0002103
Apnea - HP:0002104
Hemoptysis - HP:0002105
Pneumothorax - HP:0002107
Spontaneous pneumothorax - HP:0002108
obsolete Abnormality of the bronchi - HP:0002109
Bronchiectasis - HP:0002110
Restrictive deficit on pulmonary function testing - HP:0002111
Pulmonary infiltrates - HP:0002113
Abnormality of the cerebral ventricles - HP:0002118
Ventriculomegaly - HP:0002119
Cerebral cortical atrophy - HP:0002120
Generalized non-motor (absence) seizure - HP:0002121
Generalized myoclonic seizure - HP:0002123
Polymicrogyria - HP:0002126
Abnormal upper motor neuron morphology - HP:0002127
Episodic ataxia - HP:0002131
Porencephalic cyst - HP:0002132
Status epilepticus - HP:0002133
Abnormality of the basal ganglia - HP:0002134
Basal ganglia calcification - HP:0002135
Broad-based gait - HP:0002136
Subarachnoid hemorrhage - HP:0002138
Arrhinencephaly - HP:0002139
Ischemic stroke - HP:0002140
Gait imbalance - HP:0002141
Abnormality of the spinal cord - HP:0002143
Tethered cord - HP:0002144
Frontotemporal dementia - HP:0002145
Hypophosphatemia - HP:0002148
Hyperuricemia - HP:0002149
Hypercalciuria - HP:0002150
Increased serum lactate - HP:0002151
Hyperproteinemia - HP:0002152
Hyperkalemia - HP:0002153
Hyperglycinemia - HP:0002154
Hypertriglyceridemia - HP:0002155
Homocystinuria - HP:0002156
Azotemia - HP:0002157
Heparan sulfate excretion in urine - HP:0002159
Hyperhomocystinemia - HP:0002160
Hyperlysinemia - HP:0002161
Low posterior hairline - HP:0002162
Nail dysplasia - HP:0002164
Pterygium of nails - HP:0002165
Impaired vibration sensation in the lower limbs - HP:0002166
Neurological speech impairment - HP:0002167
Scanning speech - HP:0002168
Clonus - HP:0002169
Intracranial hemorrhage - HP:0002170
Gliosis - HP:0002171
Postural instability - HP:0002172
Hypoglycemic seizures - HP:0002173
Postural tremor - HP:0002174
Spinal cord compression - HP:0002176
Opisthotonus - HP:0002179
Neurodegeneration - HP:0002180
Cerebral edema - HP:0002181
Phonophobia - HP:0002183
Neurofibrillary tangles - HP:0002185
Apraxia - HP:0002186
Intellectual disability, profound - HP:0002187
Delayed CNS myelination - HP:0002188
Excessive daytime sleepiness - HP:0002189
Choroid plexus cyst - HP:0002190
Progressive spasticity - HP:0002191
Pseudobulbar behavioral symptoms - HP:0002193
Delayed gross motor development - HP:0002194
Dysgenesis of the cerebellar vermis - HP:0002195
Myelopathy - HP:0002196
Generalized-onset seizure - HP:0002197
Dilated fourth ventricle - HP:0002198
Hypocalcemic seizures - HP:0002199
Pseudobulbar signs - HP:0002200
Pleural effusion - HP:0002202
Respiratory paralysis - HP:0002203
Pulmonary embolism - HP:0002204
Recurrent respiratory infections - HP:0002205
Pulmonary fibrosis - HP:0002206
Diffuse reticular or finely nodular infiltrations - HP:0002207
Coarse hair - HP:0002208
Sparse scalp hair - HP:0002209
White forelock - HP:0002211
Curly hair - HP:0002212
Fine hair - HP:0002213
Sparse axillary hair - HP:0002215
Premature graying of hair - HP:0002216
Slow-growing hair - HP:0002217
Silver-gray hair - HP:0002218
Facial hypertrichosis - HP:0002219
Melanin pigment aggregation in hair shafts - HP:0002220
Absent axillary hair - HP:0002221
Absent eyebrow - HP:0002223
Woolly hair - HP:0002224
Sparse pubic hair - HP:0002225
White eyebrow - HP:0002226
White eyelashes - HP:0002227
obsolete Alopecia areata - HP:0002229
Generalized hirsutism - HP:0002230
Sparse body hair - HP:0002231
Patchy alopecia - HP:0002232
Early balding - HP:0002234
Pili canaliculi - HP:0002235
Frontal upsweep of hair - HP:0002236
Gastrointestinal hemorrhage - HP:0002239
Hepatomegaly - HP:0002240
Abnormal intestine morphology - HP:0002242
Protein-losing enteropathy - HP:0002243
Abnormality of the small intestine - HP:0002244
Meckel diverticulum - HP:0002245
Abnormality of the duodenum - HP:0002246
Duodenal atresia - HP:0002247
Hematemesis - HP:0002248
Melena - HP:0002249
Abnormal large intestine morphology - HP:0002250
Aganglionic megacolon - HP:0002251
Colonic diverticula - HP:0002253
Intermittent diarrhea - HP:0002254
Small bowel diverticula - HP:0002256
Chronic rhinitis - HP:0002257
Exaggerated cupid's bow - HP:0002263
Large fleshy ears - HP:0002265
Focal clonic seizure - HP:0002266
Exaggerated startle response - HP:0002267
Paroxysmal dystonia - HP:0002268
Abnormality of neuronal migration - HP:0002269
Abnormality of the autonomic nervous system - HP:0002270
obsolete Autonomic dysregulation - HP:0002271
Tetraparesis - HP:0002273
Poor motor coordination - HP:0002275
Horner syndrome - HP:0002277
Enlarged cisterna magna - HP:0002280
obsolete Gray matter heterotopias - HP:0002281
Gray matter heterotopia - HP:0002282
Global brain atrophy - HP:0002283
Fair hair - HP:0002286
Progressive alopecia - HP:0002287
Alopecia universalis - HP:0002289
Poliosis - HP:0002290
Frontal balding - HP:0002292
Alopecia of scalp - HP:0002293
Progressive hypotrichosis - HP:0002296
Red hair - HP:0002297
Absent hair - HP:0002298
Brittle hair - HP:0002299
Mutism - HP:0002300
Hemiplegia - HP:0002301
Akinesia - HP:0002304
Athetosis - HP:0002305
Drooling - HP:0002307
Arnold-Chiari malformation - HP:0002308
Orofacial dyskinesia - HP:0002310
Incoordination - HP:0002311
Clumsiness - HP:0002312
Spastic paraparesis - HP:0002313
Degeneration of the lateral corticospinal tracts - HP:0002314
Headache - HP:0002315
Unsteady gait - HP:0002317
Cervical myelopathy - HP:0002318
Vertigo - HP:0002321
Resting tremor - HP:0002322
Anencephaly - HP:0002323
Hydranencephaly - HP:0002324
Transient ischemic attack - HP:0002326
Drowsiness - HP:0002329
Paroxysmal drowsiness - HP:0002330
Recurrent paroxysmal headache - HP:0002331
Lack of peer relationships - HP:0002332
Motor deterioration - HP:0002333
Abnormality of the cerebellar vermis - HP:0002334
Agenesis of cerebellar vermis - HP:0002335
Abnormal caudate nucleus morphology - HP:0002339
Caudate atrophy - HP:0002340
Cervical cord compression - HP:0002341
Intellectual disability, moderate - HP:0002342
Normal pressure hydrocephalus - HP:0002343
Progressive neurologic deterioration - HP:0002344
Action tremor - HP:0002345
Head tremor - HP:0002346
Focal aware seizure - HP:0002349
Cerebellar cyst - HP:0002350
Leukoencephalopathy - HP:0002352
EEG abnormality - HP:0002353
Memory impairment - HP:0002354
Difficulty walking - HP:0002355
Writer's cramp - HP:0002356
Dysphasia - HP:0002357
Frequent falls - HP:0002359
Sleep disturbance - HP:0002360
Psychomotor deterioration - HP:0002361
Shuffling gait - HP:0002362
Abnormality of brainstem morphology - HP:0002363
Hypoplasia of the brainstem - HP:0002365
Abnormal lower motor neuron morphology - HP:0002366
Visual hallucinations - HP:0002367
Poor coordination - HP:0002370
Loss of speech - HP:0002371
Normal interictal EEG - HP:0002372
Febrile seizure (within the age range of 3 months to 6 years) - HP:0002373
Diminished movement - HP:0002374
Hypokinesia - HP:0002375
Developmental regression - HP:0002376
obsolete Paraganglioma-related cranial nerve palsy - HP:0002377
Hand tremor - HP:0002378
Fasciculations - HP:0002380
Aphasia - HP:0002381
Encephalitis - HP:0002383
Focal impaired awareness seizure - HP:0002384
Paraparesis - HP:0002385
Cavum septum pellucidum - HP:0002389
Spinal arteriovenous malformation - HP:0002390
EEG with polyspike wave complexes - HP:0002392
Lower limb hyperreflexia - HP:0002395
Cogwheel rigidity - HP:0002396
Degeneration of anterior horn cells - HP:0002398
Stroke-like episode - HP:0002401
Positive Romberg sign - HP:0002403
Thickened superior cerebellar peduncle - HP:0002404
Limb dysmetria - HP:0002406
Cerebral arteriovenous malformation - HP:0002408
Aqueductal stenosis - HP:0002410
Myokymia - HP:0002411
Spina bifida - HP:0002414
Leukodystrophy - HP:0002415
Subependymal cysts - HP:0002416
Abnormality of midbrain morphology - HP:0002418
Molar tooth sign on MRI - HP:0002419
Poor head control - HP:0002421
Long-tract signs - HP:0002423
Anarthria - HP:0002425
Motor aphasia - HP:0002427
Meningocele - HP:0002435
Occipital meningocele - HP:0002436
Cerebellar malformation - HP:0002438
Frontolimbic dementia - HP:0002439
Dyscalculia - HP:0002442
Hypothalamic hamartoma - HP:0002444
Tetraplegia - HP:0002445
Astrocytosis - HP:0002446
Progressive encephalopathy - HP:0002448
Abnormal motor neuron morphology - HP:0002450
Limb dystonia - HP:0002451
Abnormal globus pallidus morphology - HP:0002453
Eye of the tiger anomaly of globus pallidus - HP:0002454
Abnormal head movements - HP:0002457
obsolete Dysautonomia - HP:0002459
Distal muscle weakness - HP:0002460
Dense calcifications in the cerebellar dentate nucleus - HP:0002461
Language impairment - HP:0002463
Spastic dysarthria - HP:0002464
Poor speech - HP:0002465
Nonprogressive cerebellar ataxia - HP:0002470
Small cerebral cortex - HP:0002472
Expressive language delay - HP:0002474
Myelomeningocele - HP:0002475
Primitive reflex - HP:0002476
Progressive spastic quadriplegia - HP:0002478
Hepatic encephalopathy - HP:0002480
Bulbar signs - HP:0002483
Myotonia - HP:0002486
Hyperkinetic movements - HP:0002487
Acute leukemia - HP:0002488
Increased CSF lactate - HP:0002490
Spasticity of facial muscles - HP:0002491
Morphological abnormality of the corticospinal tract - HP:0002492
Upper motor neuron dysfunction - HP:0002493
Abnormal rapid eye movement sleep - HP:0002494
Impaired vibratory sensation - HP:0002495
Spastic ataxia - HP:0002497
Abnormality of the cerebral white matter - HP:0002500
Spasticity of pharyngeal muscles - HP:0002501
Spinocerebellar tract degeneration - HP:0002503
Calcification of the small brain vessels - HP:0002504
Progressive inability to walk - HP:0002505
Diffuse cerebral atrophy - HP:0002506
Semilobar holoprosencephaly - HP:0002507
Brainstem dysplasia - HP:0002508
Limb hypertonia - HP:0002509
Spastic tetraplegia - HP:0002510
Alzheimer disease - HP:0002511
Brain stem compression - HP:0002512
Cerebral calcification - HP:0002514
Waddling gait - HP:0002515
Increased intracranial pressure - HP:0002516
Abnormality of the periventricular white matter - HP:0002518
Hypnagogic hallucinations - HP:0002519
Hypsarrhythmia - HP:0002521
Areflexia of lower limbs - HP:0002522
Cataplexy - HP:0002524
Deficit in nonword repetition - HP:0002526
Falls - HP:0002527
Granulovacuolar degeneration - HP:0002528
Neuronal loss in central nervous system - HP:0002529
Axial dystonia - HP:0002530
Abnormal posturing - HP:0002533
Abnormal cortical gyration - HP:0002536
Abnormality of the cerebral cortex - HP:0002538
Cortical dysplasia - HP:0002539
Inability to walk - HP:0002540
Olivopontocerebellar atrophy - HP:0002542
Retrocollis - HP:0002544
Patchy demyelination of subcortical white matter - HP:0002545
Incomprehensible speech - HP:0002546
Parkinsonism with favorable response to dopaminergic medication - HP:0002548
Deficit in phonologic short-term memory - HP:0002549
Absent facial hair - HP:0002550
Trichodysplasia - HP:0002552
Highly arched eyebrow - HP:0002553
Absent pubic hair - HP:0002555
Hypoplastic nipples - HP:0002557
Supernumerary nipple - HP:0002558
Absent nipple - HP:0002561
Low-set nipples - HP:0002562
Constrictive pericarditis - HP:0002563
obsolete Malformation of the heart and great vessels - HP:0002564
Intestinal malrotation - HP:0002566
Steatorrhea - HP:0002570
Achalasia - HP:0002571
Episodic vomiting - HP:0002572
Hematochezia - HP:0002573
Episodic abdominal pain - HP:0002574
Tracheoesophageal fistula - HP:0002575
Intussusception - HP:0002576
Abnormality of the stomach - HP:0002577
Gastroparesis - HP:0002578
Gastrointestinal dysmotility - HP:0002579
Volvulus - HP:0002580
Chronic atrophic gastritis - HP:0002582
Colitis - HP:0002583
Intestinal bleeding - HP:0002584
Abnormality of the peritoneum - HP:0002585
Peritonitis - HP:0002586
Projectile vomiting - HP:0002587
Duodenal ulcer - HP:0002588
Gastrointestinal atresia - HP:0002589
Paralytic ileus - HP:0002590
Polyphagia - HP:0002591
Gastric ulcer - HP:0002592
Intestinal lymphangiectasia - HP:0002593
Pancreatic hypoplasia - HP:0002594
Ileus - HP:0002595
Abnormality of the vasculature - HP:0002597
Head titubation - HP:0002599
Hyporeflexia of lower limbs - HP:0002600
Paresis of extensor muscles of the big toe - HP:0002601
Gastrointestinal telangiectasia - HP:0002604
Hepatic necrosis - HP:0002605
Bowel incontinence - HP:0002607
Celiac disease - HP:0002608
Cholestatic liver disease - HP:0002611
Congenital hepatic fibrosis - HP:0002612
Biliary cirrhosis - HP:0002613
Hepatic periportal necrosis - HP:0002614
Hypotension - HP:0002615
Aortic root aneurysm - HP:0002616
Dilatation - HP:0002617
Varicose veins - HP:0002619
Atherosclerosis - HP:0002621
obsolete Dissecting aortic dilatation - HP:0002622
Overriding aorta - HP:0002623
Abnormal venous morphology - HP:0002624
Deep venous thrombosis - HP:0002625
Venous varicosities of celiac and mesenteric vessels - HP:0002626
Right aortic arch with mirror image branching - HP:0002627
Gastrointestinal arteriovenous malformation - HP:0002629
Fat malabsorption - HP:0002630
obsolete Dilatation of ascending aorta - HP:0002631
Low-to-normal blood pressure - HP:0002632
Vasculitis - HP:0002633
Arteriosclerosis - HP:0002634
Type IV atherosclerotic lesion - HP:0002635
Dilatation of an abdominal artery - HP:0002636
Cerebral ischemia - HP:0002637
Superficial thrombophlebitis - HP:0002638
Budd-Chiari syndrome - HP:0002639
Hypertension associated with pheochromocytoma - HP:0002640
Peripheral thrombosis - HP:0002641
Arteriovenous fistulas of celiac and mesenteric vessels - HP:0002642
Neonatal respiratory distress - HP:0002643
Abnormality of pelvic girdle bone morphology - HP:0002644
Wormian bones - HP:0002645
Aortic dissection - HP:0002647
Abnormality of calvarial morphology - HP:0002648
Scoliosis - HP:0002650
Spondyloepimetaphyseal dysplasia - HP:0002651
Skeletal dysplasia - HP:0002652
Bone pain - HP:0002653
Multiple epiphyseal dysplasia - HP:0002654
Spondyloepiphyseal dysplasia - HP:0002655
Epiphyseal dysplasia - HP:0002656
Spondylometaphyseal dysplasia - HP:0002657
Increased susceptibility to fractures - HP:0002659
Painless fractures due to injury - HP:0002661
Delayed epiphyseal ossification - HP:0002663
Neoplasm - HP:0002664
Lymphoma - HP:0002665
Pheochromocytoma - HP:0002666
Nephroblastoma - HP:0002667
Paraganglioma - HP:0002668
Osteosarcoma - HP:0002669
Basal cell carcinoma - HP:0002671
Gastrointestinal carcinoma - HP:0002672
Coxa valga - HP:0002673
Cloverleaf skull - HP:0002676
Small foramen magnum - HP:0002677
Skull asymmetry - HP:0002678
Abnormality of the sella turcica - HP:0002679
J-shaped sella turcica - HP:0002680
Deformed sella turcica - HP:0002681
Broad skull - HP:0002682
Abnormality of the calvaria - HP:0002683
Thickened calvaria - HP:0002684
Prenatal maternal abnormality - HP:0002686
Abnormality of frontal sinus - HP:0002687
Absent frontal sinuses - HP:0002688
Absent paranasal sinuses - HP:0002689
Large sella turcica - HP:0002690
Platybasia - HP:0002691
Hypoplastic facial bones - HP:0002692
Abnormality of the skull base - HP:0002693
Sclerosis of skull base - HP:0002694
Symmetrical, oval parietal bone defects - HP:0002695
Abnormal parietal bone morphology - HP:0002696
Parietal foramina - HP:0002697
Abnormality of the foramen magnum - HP:0002699
Large foramen magnum - HP:0002700
Abnormality of skull ossification - HP:0002703
High, narrow palate - HP:0002705
Palate telangiectasia - HP:0002707
Prominent median palatal raphe - HP:0002708
Commissural lip pit - HP:0002710
Exaggerated median tongue furrow - HP:0002711
Downturned corners of mouth - HP:0002714
Abnormality of the immune system - HP:0002715
Lymphadenopathy - HP:0002716
Adrenal overactivity - HP:0002717
Recurrent bacterial infections - HP:0002718
Recurrent infections - HP:0002719
Decreased circulating IgA level - HP:0002720
Immunodeficiency - HP:0002721
Recurrent abscess formation - HP:0002722
Absence of bactericidal oxidative respiratory burst in phagocytes - HP:0002723
Recurrent Aspergillus infections - HP:0002724
Systemic lupus erythematosus - HP:0002725
Recurrent Staphylococcus aureus infections - HP:0002726
Chronic mucocutaneous candidiasis - HP:0002728
Follicular hyperplasia - HP:0002729
Chronic noninfectious lymphadenopathy - HP:0002730
Decreased lymphocyte apoptosis - HP:0002731
Lymph node hypoplasia - HP:0002732
Abnormality of the lymph nodes - HP:0002733
Thick skull base - HP:0002737
Hypoplastic frontal sinuses - HP:0002738
Recurrent E. coli infections - HP:0002740
Recurrent Serratia marcescens infections - HP:0002741
Recurrent Klebsiella infections - HP:0002742
Recurrent enteroviral infections - HP:0002743
Bilateral cleft lip and palate - HP:0002744
Oral leukoplakia - HP:0002745
Respiratory insufficiency due to muscle weakness - HP:0002747
Rickets - HP:0002748
Osteomalacia - HP:0002749
Delayed skeletal maturation - HP:0002750
Kyphoscoliosis - HP:0002751
Sparse bone trabeculae - HP:0002752
Thin bony cortex - HP:0002753
Osteomyelitis - HP:0002754
obsolete Osteomyelitis due to immunodeficiency - HP:0002755
Pathologic fracture - HP:0002756
Recurrent fractures - HP:0002757
Osteoarthritis - HP:0002758
Generalized joint laxity - HP:0002761
Multiple exostoses - HP:0002762
Abnormal cartilage morphology - HP:0002763
Stippled chondral calcification - HP:0002764
Relatively short spine - HP:0002766
obsolete Small vertebral bodies - HP:0002773
Tracheal stenosis - HP:0002777
Abnormal trachea morphology - HP:0002778
Tracheomalacia - HP:0002779
Bronchomalacia - HP:0002780
Upper airway obstruction - HP:0002781
Recurrent lower respiratory tract infections - HP:0002783
Tracheobronchomalacia - HP:0002786
Tracheal calcification - HP:0002787
Recurrent upper respiratory tract infections - HP:0002788
Tachypnea - HP:0002789
Neonatal breathing dysregulation - HP:0002790
Hypoventilation - HP:0002791
Reduced vital capacity - HP:0002792
Abnormal pattern of respiration - HP:0002793
Functional respiratory abnormality - HP:0002795
Osteolysis - HP:0002797
Congenital contracture - HP:0002803
Arthrogryposis multiplex congenita - HP:0002804
Accelerated bone age after puberty - HP:0002805
Kyphosis - HP:0002808
Dumbbell-shaped metaphyses - HP:0002810
Coxa vara - HP:0002812
Abnormality of limb bone morphology - HP:0002813
Abnormality of the lower limb - HP:0002814
Abnormality of the knee - HP:0002815
Genu recurvatum - HP:0002816
Abnormality of the upper limb - HP:0002817
Abnormality of the radius - HP:0002818
Neuropathic arthropathy - HP:0002821
Hyperplasia of the femoral trochanters - HP:0002822
Abnormality of femur morphology - HP:0002823
Caudal appendage - HP:0002825
Halberd-shaped pelvis - HP:0002826
Hip dislocation - HP:0002827
Multiple joint contractures - HP:0002828
Arthralgia - HP:0002829
Long coccyx - HP:0002831
Calcific stippling - HP:0002832
Cystic angiomatosis of bone - HP:0002833
Flared femoral metaphysis - HP:0002834
Aspiration - HP:0002835
Bladder exstrophy - HP:0002836
Recurrent bronchitis - HP:0002837
Urinary bladder sphincter dysfunction - HP:0002839
Lymphadenitis - HP:0002840
Recurrent fungal infections - HP:0002841
Recurrent Burkholderia cepacia infections - HP:0002842
Abnormal T cell morphology - HP:0002843
obsolete Increased proportion of peripheral CD3+ T cells - HP:0002845
Abnormal B cell morphology - HP:0002846
Impaired memory B cell generation - HP:0002847
Specific anti-polysaccharide antibody deficiency - HP:0002848
Absence of lymph node germinal center - HP:0002849
Decreased circulating total IgM - HP:0002850
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells - HP:0002851
Increased proportion of HLA DR+ T cells - HP:0002853
Genu valgum - HP:0002857
Meningioma - HP:0002858
Rhabdomyosarcoma - HP:0002859
Squamous cell carcinoma - HP:0002860
Melanoma - HP:0002861
Bladder carcinoma - HP:0002862
Myelodysplasia - HP:0002863
Paraganglioma of head and neck - HP:0002864
Medullary thyroid carcinoma - HP:0002865
Hypoplastic iliac wing - HP:0002866
Abnormality of the ilium - HP:0002867
Narrow iliac wings - HP:0002868
Flared iliac wings - HP:0002869
Obstructive sleep apnea - HP:0002870
Central apnea - HP:0002871
Apneic episodes precipitated by illness, fatigue, stress - HP:0002872
Exertional dyspnea - HP:0002875
Episodic tachypnea - HP:0002876
Nocturnal hypoventilation - HP:0002877
Respiratory failure - HP:0002878
Anisospondyly - HP:0002879
obsolete Respiratory difficulties - HP:0002880
Sudden episodic apnea - HP:0002882
Hyperventilation - HP:0002883
Hepatoblastoma - HP:0002884
Medulloblastoma - HP:0002885
Vagal paraganglioma - HP:0002886
Ependymoma - HP:0002888
Thyroid carcinoma - HP:0002890
Uterine leiomyosarcoma - HP:0002891
Pituitary adenoma - HP:0002893
Neoplasm of the pancreas - HP:0002894
Papillary thyroid carcinoma - HP:0002895
Neoplasm of the liver - HP:0002896
Parathyroid adenoma - HP:0002897
Embryonal neoplasm - HP:0002898
Hypokalemia - HP:0002900
Hypocalcemia - HP:0002901
Hyponatremia - HP:0002902
Hyperbilirubinemia - HP:0002904
Hyperphosphatemia - HP:0002905
Microscopic hematuria - HP:0002907
Conjugated hyperbilirubinemia - HP:0002908
Generalized aminoaciduria - HP:0002909
Elevated hepatic transaminase - HP:0002910
Methylmalonic acidemia - HP:0002912
Myoglobinuria - HP:0002913
Hyperchloriduria - HP:0002914
Abnormality of chromosome segregation - HP:0002916
Hypomagnesemia - HP:0002917
Hypermagnesemia - HP:0002918
Ketonuria - HP:0002919
Decreased circulating ACTH level - HP:0002920
Abnormality of the cerebrospinal fluid - HP:0002921
Increased CSF protein - HP:0002922
Rheumatoid factor positive - HP:0002923
obsolete Decreased circulating aldosterone level - HP:0002924
Increased thyroid-stimulating hormone level - HP:0002925
Abnormality of thyroid physiology - HP:0002926
Histidinuria - HP:0002927
Decreased activity of the pyruvate dehydrogenase complex - HP:0002928
Leydig cell insensitivity to gonadotropin - HP:0002929
Impaired sensitivity to thyroid hormone - HP:0002930
Aldehyde oxidase deficiency - HP:0002932
Ventral hernia - HP:0002933
Distal sensory impairment - HP:0002936
Hemivertebrae - HP:0002937
Lumbar hyperlordosis - HP:0002938
Thoracic kyphosis - HP:0002942
Thoracic scoliosis - HP:0002943
Thoracolumbar scoliosis - HP:0002944
Intervertebral space narrowing - HP:0002945
Supernumerary vertebrae - HP:0002946
Cervical kyphosis - HP:0002947
Vertebral fusion - HP:0002948
Fused cervical vertebrae - HP:0002949
Partial absence of cerebellar vermis - HP:0002951
Vertebral compression fractures - HP:0002953
Granulomatosis - HP:0002955
Immune dysregulation - HP:0002958
Impaired Ig class switch recombination - HP:0002959
Autoimmunity - HP:0002960
Dysgammaglobulinemia - HP:0002961
Abnormal delayed hypersensitivity skin test - HP:0002963
Cutaneous anergy - HP:0002965
Cubitus valgus - HP:0002967
Genu varum - HP:0002970
Absent microvilli on the surface of peripheral blood lymphocytes - HP:0002971
Reduced delayed hypersensitivity - HP:0002972
Abnormality of the forearm - HP:0002973
Radioulnar synostosis - HP:0002974
Aplasia/Hypoplasia involving the central nervous system - HP:0002977
Bowing of the legs - HP:0002979
Femoral bowing - HP:0002980
Abnormality of the calf - HP:0002981
Tibial bowing - HP:0002982
Micromelia - HP:0002983
Hypoplasia of the radius - HP:0002984
Radial bowing - HP:0002986
Elbow flexion contracture - HP:0002987
Fibular aplasia - HP:0002990
Abnormality of fibula morphology - HP:0002991
Abnormality of tibia morphology - HP:0002992
Limited elbow movement - HP:0002996
Abnormality of the ulna - HP:0002997
Patellar dislocation - HP:0002999
Glomus jugular tumor - HP:0003001
Breast carcinoma - HP:0003002
Colon cancer - HP:0003003
Ganglioneuroma - HP:0003005
Neuroblastoma - HP:0003006
Enhanced neurotoxicity of vincristine - HP:0003009
Prolonged bleeding time - HP:0003010
Abnormality of the musculature - HP:0003011
Bulging epiphyses - HP:0003013
Flared metaphysis - HP:0003015
Metaphyseal widening - HP:0003016
Abnormality of the wrist - HP:0003019
Enlargement of the wrists - HP:0003020
Metaphyseal cupping - HP:0003021
Hypoplasia of the ulna - HP:0003022
Bowing of limbs due to multiple fractures - HP:0003023
Metaphyseal irregularity - HP:0003025
Short long bone - HP:0003026
Mesomelia - HP:0003027
Abnormality of the ankles - HP:0003028
Enlargement of the ankles - HP:0003029
Ulnar bowing - HP:0003031
Diaphyseal sclerosis - HP:0003034
Enlarged joints - HP:0003037
Fibular hypoplasia - HP:0003038
Arthropathy - HP:0003040
Humeroradial synostosis - HP:0003041
Elbow dislocation - HP:0003042
Abnormality of the shoulder - HP:0003043
Shoulder flexion contracture - HP:0003044
Abnormal patella morphology - HP:0003045
Radial head subluxation - HP:0003048
Ulnar deviation of the wrist - HP:0003049
Enlarged metaphyses - HP:0003051
Epiphyseal deformities of tubular bones - HP:0003053
Tetraamelia - HP:0003057
Abnormality of the radioulnar joints - HP:0003059
Abnormality of the humerus - HP:0003063
Patellar hypoplasia - HP:0003065
Limited knee extension - HP:0003066
Madelung deformity - HP:0003067
Madelung-like forearm deformities - HP:0003068
Elbow ankylosis - HP:0003070
Flattened epiphysis - HP:0003071
Hypercalcemia - HP:0003072
Hypoalbuminemia - HP:0003073
Hyperglycemia - HP:0003074
Hypoproteinemia - HP:0003075
Glycosuria - HP:0003076
Hyperlipidemia - HP:0003077
Defective DNA repair after ultraviolet radiation damage - HP:0003079
Hydroxyprolinuria - HP:0003080
Increased urinary potassium - HP:0003081
Dislocated radial head - HP:0003083
Fractures of the long bones - HP:0003084
Long fibula - HP:0003085
Acromesomelia - HP:0003086
Premature osteoarthritis - HP:0003088
Hamstring contractures - HP:0003089
Hypoplasia of the capital femoral epiphysis - HP:0003090
Trophic limb changes - HP:0003091
Limited hip extension - HP:0003093
Septic arthritis - HP:0003095
Short femur - HP:0003097
Fibular overgrowth - HP:0003099
Slender long bone - HP:0003100
Increased carrying angle - HP:0003102
Abnormal cortical bone morphology - HP:0003103
Protuberances at ends of long bones - HP:0003105
Subperiosteal bone resorption - HP:0003106
Abnormal circulating cholesterol concentration - HP:0003107
Hyperglycinuria - HP:0003108
Hyperphosphaturia - HP:0003109
Abnormality of urine homeostasis - HP:0003110
Abnormal blood ion concentration - HP:0003111
Abnormality of serum amino acid level - HP:0003112
Hypochloremia - HP:0003113
obsolete Abnormal cardiological findings - HP:0003114
Abnormal EKG - HP:0003115
Abnormal echocardiogram - HP:0003116
Abnormal circulating hormone level - HP:0003117
Increased circulating cortisol level - HP:0003118
Abnormal circulating lipid concentration - HP:0003119
Limb joint contracture - HP:0003121
Hypercholesterolemia - HP:0003124
Reduced factor VIII activity - HP:0003125
Low-molecular-weight proteinuria - HP:0003126
Hypocalciuria - HP:0003127
Lactic acidosis - HP:0003128
Abnormal peripheral myelination - HP:0003130
Cystinuria - HP:0003131
Abnormality of the spinocerebellar tracts - HP:0003133
Abnormality of peripheral nerve conduction - HP:0003134
Prolinuria - HP:0003137
Increased blood urea nitrogen - HP:0003138
Panhypogammaglobulinemia - HP:0003139
T-wave inversion in the right precordial leads - HP:0003140
Increased LDL cholesterol concentration - HP:0003141
Excessive purine production - HP:0003142
Increased serum serotonin - HP:0003144
Decreased adenosylcobalamin - HP:0003145
Hypocholesterolemia - HP:0003146
Elevated serum acid phosphatase - HP:0003148
Hyperuricosuria - HP:0003149
Glutaric aciduria - HP:0003150
obsolete Increased serum 1,25-dihydroxyvitamin D3 - HP:0003152
Cystathioninuria - HP:0003153
Increased circulating ACTH level - HP:0003154
Elevated alkaline phosphatase - HP:0003155
Hyposthenuria - HP:0003158
Hyperoxaluria - HP:0003159
Abnormal isoelectric focusing of serum transferrin - HP:0003160
4-Hydroxyphenylpyruvic aciduria - HP:0003161
Fasting hypoglycemia - HP:0003162
Elevated urinary delta-aminolevulinic acid - HP:0003163
Hypothalamic gonadotropin-releasing hormone deficiency - HP:0003164
Elevated circulating parathyroid hormone level - HP:0003165
Increased urinary taurine - HP:0003166
Carnosinuria - HP:0003167
Dibasicaminoaciduria - HP:0003168
Abnormality of the acetabulum - HP:0003170
Abnormality of the pubic bone - HP:0003172
Hypoplastic pubic bone - HP:0003173
Abnormality of the ischium - HP:0003174
Hypoplastic ischia - HP:0003175
Squared iliac bones - HP:0003177
Protrusio acetabuli - HP:0003179
Flat acetabular roof - HP:0003180
Shallow acetabular fossae - HP:0003182
Wide pubic symphysis - HP:0003183
Decreased hip abduction - HP:0003184
Short greater sciatic notch - HP:0003185
Inverted nipples - HP:0003186
Breast hypoplasia - HP:0003187
Long nose - HP:0003189
Cleft ala nasi - HP:0003191
Allergic rhinitis - HP:0003193
Short nasal bridge - HP:0003194
Short nose - HP:0003196
Myopathy - HP:0003198
Decreased muscle mass - HP:0003199
Ragged-red muscle fibers - HP:0003200
Rhabdomyolysis - HP:0003201
Skeletal muscle atrophy - HP:0003202
Impaired oxidative burst - HP:0003203
Intracellular accumulation of autofluorescent lipopigment storage material - HP:0003204
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material - HP:0003205
Decreased activity of NADPH oxidase - HP:0003206
Arterial calcification - HP:0003207
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material - HP:0003208
Decreased pyruvate carboxylase activity - HP:0003209
Decreased methylmalonyl-CoA mutase activity - HP:0003210
Increased circulating total IgE level - HP:0003212
Deficient excision of UV-induced pyrimidine dimers in DNA - HP:0003213
Prolonged G2 phase of cell cycle - HP:0003214
Dicarboxylic aciduria - HP:0003215
Generalized amyloid deposition - HP:0003216
Hyperglutaminemia - HP:0003217
Oroticaciduria - HP:0003218
Ethylmalonic aciduria - HP:0003219
Abnormality of chromosome stability - HP:0003220
Chromosomal breakage induced by crosslinking agents - HP:0003221
Decreased methylcobalamin - HP:0003223
Increased cellular sensitivity to UV light - HP:0003224
Reduced coagulation factor V activity - HP:0003225
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material - HP:0003226
Hypernatremia - HP:0003228
Hypertyrosinemia - HP:0003231
Mitochondrial malic enzyme reduced - HP:0003232
Decreased HDL cholesterol concentration - HP:0003233
Decreased plasma carnitine - HP:0003234
Hypermethioninemia - HP:0003235
Elevated serum creatine kinase - HP:0003236
Increased circulating IgG level - HP:0003237
Hyperpepsinogenemia I - HP:0003238
Phosphoethanolaminuria - HP:0003239
Increased phosphoribosylpyrophosphate synthetase activity - HP:0003240
External genital hypoplasia - HP:0003241
Penile hypospadias - HP:0003244
Prominent scrotal raphe - HP:0003246
Overgrowth of external genitalia - HP:0003247
Gonadal tissue inappropriate for external genitalia or chromosomal sex - HP:0003248
Genital ulcers - HP:0003249
Aplasia of the vagina - HP:0003250
Male infertility - HP:0003251
Anteriorly displaced genitalia - HP:0003252
Abnormality of DNA repair - HP:0003254
Abnormality of the coagulation cascade - HP:0003256
Glyoxalase deficiency - HP:0003258
Elevated serum creatinine - HP:0003259
Hydroxyprolinemia - HP:0003260
Increased circulating IgA level - HP:0003261
Smooth muscle antibody positivity - HP:0003262
Deficiency of N-acetylglucosamine-1-phosphotransferase - HP:0003264
Neonatal hyperbilirubinemia - HP:0003265
Reduced orotidine 5-prime phosphate decarboxylase activity - HP:0003267
Argininuria - HP:0003268
Sudanophilic leukodystrophy - HP:0003269
Abdominal distention - HP:0003270
Visceromegaly - HP:0003271
Abnormality of the hip bone - HP:0003272
Hip contracture - HP:0003273
Hypoplastic acetabulae - HP:0003274
Narrow pelvis bone - HP:0003275
Pelvic bone exostoses - HP:0003276
Constricted iliac wings - HP:0003277
Square pelvis bone - HP:0003278
Coxa magna - HP:0003279
Increased serum ferritin - HP:0003281
Low alkaline phosphatase - HP:0003282
Cystathioninemia - HP:0003286
Abnormality of mitochondrial metabolism - HP:0003287
Mitochondrial propionyl-CoA carboxylase defect - HP:0003288
Decreased serum leptin - HP:0003292
obsolete Impaired FSH and LH secretion - HP:0003295
Hyperthreoninuria - HP:0003296
Hyperlysinuria - HP:0003297
Spina bifida occulta - HP:0003298
Ovoid vertebral bodies - HP:0003300
Irregular vertebral endplates - HP:0003301
Spondylolisthesis - HP:0003302
Spondylolysis - HP:0003304
Block vertebrae - HP:0003305
Spinal rigidity - HP:0003306
Hyperlordosis - HP:0003307
Cervical subluxation - HP:0003308
Ovoid thoracolumbar vertebrae - HP:0003309
Abnormality of the odontoid process - HP:0003310
Hypoplasia of the odontoid process - HP:0003311
Abnormal form of the vertebral bodies - HP:0003312
Butterfly vertebrae - HP:0003316
Cervical spine hypermobility - HP:0003318
Abnormality of the cervical spine - HP:0003319
C1-C2 subluxation - HP:0003320
Biconcave flattened vertebrae - HP:0003321
Progressive muscle weakness - HP:0003323
Generalized muscle weakness - HP:0003324
Limb-girdle muscle weakness - HP:0003325
Myalgia - HP:0003326
Axial muscle weakness - HP:0003327
Abnormal hair laboratory examination - HP:0003328
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes - HP:0003329
Abnormal bone structure - HP:0003330
Absent primary metaphyseal spongiosa - HP:0003332
Increased serum beta-hexosaminidase - HP:0003333
Elevated circulating catecholamine level - HP:0003334
obsolete Low gonadotropins (secondary hypogonadism) - HP:0003335
Abnormal enchondral ossification - HP:0003336
Reduced prothrombin consumption - HP:0003337
Focal necrosis of right ventricular muscle cells - HP:0003338
Pyrimidine-responsive megaloblastic anemia - HP:0003339
obsolete Abnormal dermatological laboratory findings - HP:0003340
Junctional split - HP:0003341
Reduced glutathione synthetase activity - HP:0003343
3-Methylglutaric aciduria - HP:0003344
Elevated urinary norepinephrine - HP:0003345
Impaired lymphocyte transformation with phytohemagglutinin - HP:0003347
Hyperalaninemia - HP:0003348
Low cholesterol esterification rate - HP:0003349
Decreased circulating renin level - HP:0003351
Endopolyploidy on chromosome studies of bone marrow - HP:0003352
Propionyl-CoA carboxylase deficiency - HP:0003353
Hyperthreoninemia - HP:0003354
Aminoaciduria - HP:0003355
Thymic hormone decreased - HP:0003357
Elevated intracellular cystine - HP:0003358
Decreased urinary sulfate - HP:0003359
Tryptophanuria - HP:0003361
Increased VLDL cholesterol concentration - HP:0003362
Abdominal situs inversus - HP:0003363
Arthralgia of the hip - HP:0003365
Abnormality of the femoral neck or head region - HP:0003366
Abnormality of the femoral neck - HP:0003367
Abnormality of the femoral head - HP:0003368
Flat capital femoral epiphysis - HP:0003370
Enlargement of the proximal femoral epiphysis - HP:0003371
Narrow greater sciatic notch - HP:0003375
Steppage gait - HP:0003376
Axonal degeneration/regeneration - HP:0003378
Decreased number of peripheral myelinated nerve fibers - HP:0003380
Hypertrophic nerve changes - HP:0003382
Onion bulb formation - HP:0003383
Peripheral axonal atrophy - HP:0003384
Decreased number of large peripheral myelinated nerve fibers - HP:0003387
Easy fatigability - HP:0003388
Sensory axonal neuropathy - HP:0003390
Gowers sign - HP:0003391
First dorsal interossei muscle weakness - HP:0003392
Thenar muscle atrophy - HP:0003393
Muscle spasm - HP:0003394
Syringomyelia - HP:0003396
Generalized hypotonia due to defect at the neuromuscular junction - HP:0003397
Abnormal synaptic transmission at the neuromuscular junction - HP:0003398
Basal lamina onion bulb formation - HP:0003400
Paresthesia - HP:0003401
Decreased miniature endplate potentials - HP:0003402
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation - HP:0003403
Diffuse axonal swelling - HP:0003405
Peripheral nerve compression - HP:0003406
Distal sensory impairment of all modalities - HP:0003409
Proximal femoral metaphyseal irregularity - HP:0003411
Atlantoaxial abnormality - HP:0003413
Atlantoaxial dislocation - HP:0003414
Spinal canal stenosis - HP:0003416
Coronal cleft vertebrae - HP:0003417
Back pain - HP:0003418
Low back pain - HP:0003419
obsolete Platyspondyly (childhood) - HP:0003421
Vertebral segmentation defect - HP:0003422
Thoracolumbar kyphoscoliosis - HP:0003423
First dorsal interossei muscle atrophy - HP:0003426
Thenar muscle weakness - HP:0003427
CNS hypomyelination - HP:0003429
Decreased motor nerve conduction velocity - HP:0003431
Sensory ataxic neuropathy - HP:0003434
Cold-induced hand cramps - HP:0003435
Prolonged miniature endplate currents - HP:0003436
Absent Achilles reflex - HP:0003438
Horizontal sacrum - HP:0003440
Decreased size of nerve terminals - HP:0003443
EMG: chronic denervation signs - HP:0003444
EMG: neuropathic changes - HP:0003445
Axonal loss - HP:0003447
Decreased sensory nerve conduction velocity - HP:0003448
Cold-induced muscle cramps - HP:0003449
Axonal regeneration - HP:0003450
Increased rate of premature chromosome condensation - HP:0003451
Increased serum iron - HP:0003452
Antineutrophil antibody positivity - HP:0003453
Platelet antibody positive - HP:0003454
Elevated circulating long chain fatty acid concentration - HP:0003455
Low urinary cyclic AMP response to PTH administration - HP:0003456
EMG abnormality - HP:0003457
EMG: myopathic abnormalities - HP:0003458
Polyclonal elevation of IgM - HP:0003459
Decreased circulating total IgA - HP:0003460
Increased urinary O-linked sialopeptides - HP:0003461
Elevated 8-dehydrocholesterol - HP:0003462
Increased extraneuronal autofluorescent lipopigment - HP:0003463
obsolete Abnormal cholesterol homeostasis - HP:0003464
Elevated 8(9)-cholestenol - HP:0003465
Paradoxical increased cortisol secretion on dexamethasone suppression test - HP:0003466
Atlantoaxial instability - HP:0003467
Abnormal vertebral morphology - HP:0003468
Peripheral dysmyelination - HP:0003469
Paralysis - HP:0003470
Hypocalcemic tetany - HP:0003472
Fatigable weakness - HP:0003473
Sensory impairment - HP:0003474
Peripheral axonal neuropathy - HP:0003477
Segmental peripheral demyelination/remyelination - HP:0003481
EMG: axonal abnormality - HP:0003482
Upper limb muscle weakness - HP:0003484
Babinski sign - HP:0003487
Acute episodes of neuropathic symptoms - HP:0003489
obsolete Defective dehydrogenation of isovaleryl CoA and butyryl CoA - HP:0003490
Elevated urine pyrophosphate - HP:0003491
High urinary gonadotropin level - HP:0003492
Antinuclear antibody positivity - HP:0003493
obsolete Loss of heterozygosity, multiple chromosomes - HP:0003494
GM2-ganglioside accumulation - HP:0003495
Increased circulating IgM level - HP:0003496
Disproportionate short stature - HP:0003498
Mild short stature - HP:0003502
Proportionate short stature - HP:0003508
Severe short stature - HP:0003510
Reduced ratio of renal calcium clearance to creatinine clearance - HP:0003513
Deficiency or absence of cytochrome b(-245) - HP:0003514
Birth length greater than 97th percentile - HP:0003517
Disproportionate short-trunk short stature - HP:0003521
Decreased methionine synthase activity - HP:0003524
Orotic acid crystalluria - HP:0003526
Hyperprostaglandinuria - HP:0003527
Elevated calcitonin - HP:0003528
Parathormone-independent increased renal tubular calcium reabsorption - HP:0003529
Glutaric acidemia - HP:0003530
Ornithinuria - HP:0003532
Reduced acetaldehyde dehydrogenase activity - HP:0003533
Reduced xanthine dehydrogenase activity - HP:0003534
3-Methylglutaconic aciduria - HP:0003535
Decreased fumarate hydratase activity - HP:0003536
Hypouricemia - HP:0003537
Increased serum iduronate sulfatase activity - HP:0003538
Impaired platelet aggregation - HP:0003540
Urinary glycosaminoglycan excretion - HP:0003541
Increased serum pyruvate - HP:0003542
Exercise intolerance - HP:0003546
Shoulder girdle muscle weakness - HP:0003547
Subsarcolemmal accumulations of abnormally shaped mitochondria - HP:0003548
Abnormality of connective tissue - HP:0003549
Predominantly lower limb lymphedema - HP:0003550
Difficulty climbing stairs - HP:0003551
Muscle stiffness - HP:0003552
obsolete Cellulitis due to immunodeficiency - HP:0003553
Type 2 muscle fiber atrophy - HP:0003554
Muscle fiber splitting - HP:0003555
Increased variability in muscle fiber diameter - HP:0003557
Viral infection-induced rhabdomyolysis - HP:0003558
Muscle hyperirritability - HP:0003559
Muscular dystrophy - HP:0003560
Birth length less than 3rd percentile - HP:0003561
Abnormal metaphyseal vascular invasion - HP:0003562
Decreased LDL cholesterol concentration - HP:0003563
Folate-dependent fragile site at Xq28 - HP:0003564
Elevated erythrocyte sedimentation rate - HP:0003565
Increased serum prostaglandin E2 - HP:0003566
Decreased glucosephosphate isomerase activity - HP:0003568
Molybdenum cofactor deficiency - HP:0003570
Propionicacidemia - HP:0003571
Low plasma citrulline - HP:0003572
Increased total bilirubin - HP:0003573
Positive regitine blocking test - HP:0003574
Increased intracellular sodium - HP:0003575
Congenital onset - HP:0003577
Adult onset - HP:0003581
Late onset - HP:0003584
Insidious onset - HP:0003587
Infantile onset - HP:0003593
Middle age onset - HP:0003596
Absent urinary urothione - HP:0003606
4-Hydroxyphenylacetic aciduria - HP:0003607
Foam cells with lamellar inclusion bodies - HP:0003609
Fibroblast metachromasia - HP:0003610
Positive ferric chloride test - HP:0003612
Antiphospholipid antibody positivity - HP:0003613
Trimethylaminuria - HP:0003614
Premature separation of centromeric heterochromatin - HP:0003616
Juvenile onset - HP:0003621
Neonatal onset - HP:0003623
Amyoplasia - HP:0003634
Loss of subcutaneous adipose tissue in limbs - HP:0003635
Reduced 4-Hydroxyphenylpyruvate dioxygenase activity - HP:0003637
Elevated urinary epinephrine - HP:0003639
Foam cells in visceral organs and CNS - HP:0003640
Hemoglobinuria - HP:0003641
Type I transferrin isoform profile - HP:0003642
Sulfite oxidase deficiency - HP:0003643
Prolonged partial thromboplastin time - HP:0003645
Bicarbonaturia - HP:0003646
Electron transfer flavoprotein-ubiquinone oxidoreductase defect - HP:0003647
Lacticaciduria - HP:0003648
Abnormality of glycoside metabolism - HP:0003649
Foam cells - HP:0003651
Recurrent myoglobinuria - HP:0003652
Cellular metachromasia - HP:0003653
Reduced dihydropyrimidine dehydrogenase activity - HP:0003654
Reduced activity of N-acetylglucosaminyltransferase II - HP:0003655
Decreased beta-glucocerebrosidase activity - HP:0003656
Granular osmiophilic deposits (GROD) in cells - HP:0003657
Hypomethioninemia - HP:0003658
Amyotrophy of the musculature of the pelvis - HP:0003665
Onset - HP:0003674
Progressive - HP:0003676
Slow progression - HP:0003677
Rapidly progressive - HP:0003678
Pace of progression - HP:0003679
Nonprogressive - HP:0003680
Variable progression rate - HP:0003682
Large beaked nose - HP:0003683
Centrally nucleated skeletal muscle fibers - HP:0003687
Cytochrome C oxidase-negative muscle fibers - HP:0003688
Multiple mitochondrial DNA deletions - HP:0003689
Limb muscle weakness - HP:0003690
Scapular winging - HP:0003691
Distal amyotrophy - HP:0003693
Late-onset proximal muscle weakness - HP:0003694
Absent epiphysis of the distal phalanx of the 5th finger - HP:0003696
Scapuloperoneal amyotrophy - HP:0003697
Difficulty standing - HP:0003698
Generalized amyotrophy - HP:0003700
Proximal muscle weakness - HP:0003701
Scapuloperoneal weakness - HP:0003704
Calf muscle pseudohypertrophy - HP:0003707
Exercise-induced muscle cramps - HP:0003710
Skeletal muscle hypertrophy - HP:0003712
Muscle fiber necrosis - HP:0003713
Myofibrillar myopathy - HP:0003715
Generalized muscular appearance from birth - HP:0003716
Minimal subcutaneous fat - HP:0003717
Muscle mounding - HP:0003719
Generalized muscle hypertrophy - HP:0003720
Neck flexor weakness - HP:0003722
Shoulder girdle muscle atrophy - HP:0003724
Firm muscles - HP:0003725
Enteroviral dermatomyositis syndrome - HP:0003729
EMG: myotonic runs - HP:0003730
Quadriceps muscle weakness - HP:0003731
Thigh hypertrophy - HP:0003733
Autophagic vacuoles - HP:0003736
Mitochondrial myopathy - HP:0003737
Exercise-induced myalgia - HP:0003738
Myoclonic spasms - HP:0003739
Myotonia with warm-up phenomenon - HP:0003740
Congenital muscular dystrophy - HP:0003741
Genetic anticipation with paternal anticipation bias - HP:0003744
Pelvic girdle muscle weakness - HP:0003749
Increased muscle fatiguability - HP:0003750
Episodic flaccid weakness - HP:0003752
Type 1 fibers relatively smaller than type 2 fibers - HP:0003755
Skeletal myopathy - HP:0003756
Reduced subcutaneous adipose tissue - HP:0003758
Hypoplasia of lymphatic vessels - HP:0003759
Percussion-induced rapid rolling muscle contractions - HP:0003760
Calcinosis - HP:0003761
Uterus didelphys - HP:0003762
Bruxism - HP:0003763
Nevus - HP:0003764
Psoriasiform dermatitis - HP:0003765
Periodic paralysis - HP:0003768
Pulp stones - HP:0003771
Stage 5 chronic kidney disease - HP:0003774
Pili torti - HP:0003777
Short mandibular rami - HP:0003778
Antegonial notching of mandible - HP:0003779
Excessive salivation - HP:0003781
Eunuchoid habitus - HP:0003782
Externally rotated/abducted legs - HP:0003783
Type 1 collagen overmodification - HP:0003784
Decreased CSF homovanillic acid - HP:0003785
Type 1 and type 2 muscle fiber minicore regions - HP:0003787
Minicore myopathy - HP:0003789
Deposits immunoreactive to beta-amyloid protein - HP:0003791
Short middle phalanx of toe - HP:0003795
Irregular iliac crest - HP:0003796
Limb-girdle muscle atrophy - HP:0003797
Nemaline bodies - HP:0003798
Marked delay in bone age - HP:0003799
Muscle abnormality related to mitochondrial dysfunction - HP:0003800
Type 1 muscle fiber predominance - HP:0003803
Rimmed vacuoles - HP:0003805
Abnormal muscle tone - HP:0003808
Reduced intrathoracic adipose tissue - HP:0003809
Late-onset distal muscle weakness - HP:0003810
Neonatal death - HP:0003811
Phenotypic variability - HP:0003812
Death in childhood - HP:0003819
Stillbirth - HP:0003826
Variable expressivity - HP:0003828
Incomplete penetrance - HP:0003829
Age-dependent penetrance - HP:0003831
Abnormality of the tibial plateaux - HP:0003832
Laterally deficient tibial plateaux - HP:0003833
Shoulder dislocation - HP:0003834
Shoulder subluxation - HP:0003835
Stippled calcification of the shoulder - HP:0003836
Soft-tissue ossification around the shoulders - HP:0003837
Abnormality of upper limb epiphysis morphology - HP:0003839
Delayed upper limb epiphyseal ossification - HP:0003840
Fragmented epiphyses of the upper limbs - HP:0003841
Irregular epiphyses of the upper limbs - HP:0003842
Round epiphyses of the upper limbs - HP:0003843
Small epiphyses of the upper limbs - HP:0003844
Wide epiphyseal plates of the upper limbs - HP:0003846
Cupped metaphyses of the upper limbs - HP:0003848
Flared upper limb metaphysis - HP:0003849
Upper-limb metaphyseal irregularity - HP:0003850
Lytic defects in metaphyses of the upper limbs - HP:0003851
Normal density transverse bands in metaphyses of the upper limbs - HP:0003852
Sclerosis with transverse striations in metaphyses of the upper limbs - HP:0003853
Sclerosis of metaphyses of the upper limbs - HP:0003854
Spurred metaphyses of the upper limbs - HP:0003855
Upper limb metaphyseal widening - HP:0003856
Cortical diaphyseal irregularity of the upper limbs - HP:0003858
Cortical diaphyseal thickening of the upper limbs - HP:0003859
Diaphyseal sclerosis of the upper limbs - HP:0003860
Broad diaphyses of the upper limbs - HP:0003861
Absent humerus - HP:0003862
Angulated humerus - HP:0003863
Bifid humerus - HP:0003864
Bowed humerus - HP:0003865
Coarse humeral trabeculae - HP:0003866
Humeral cortical irregularity - HP:0003867
Humeral cortical thickening - HP:0003868
Humeral cortical thinning - HP:0003869
Crumpled humerus - HP:0003870
Deformed humerus - HP:0003871
Humeral exostoses - HP:0003872
Humerus varus - HP:0003874
Humeral lytic defects - HP:0003875
Osteoporotic humerus - HP:0003876
Oval transradiancy of humerus - HP:0003877
Periosteal new bone of humerus - HP:0003878
Humeral pseudarthrosis - HP:0003879
Sclerotic foci of the humerus - HP:0003880
Humeral sclerosis - HP:0003881
Slender humerus - HP:0003882
Tapered humerus - HP:0003883
Triangular humerus - HP:0003884
Undermodeled humerus - HP:0003885
Wide humerus - HP:0003886
Abnormality of the humeral heads - HP:0003887
Flattened humeral heads - HP:0003888
Abnormality of the deltoid tuberosities - HP:0003889
Prominent deltoid tuberosities - HP:0003890
Abnormality of the humeral epiphysis - HP:0003891
Absent humeral epiphyseal ossification - HP:0003892
Advanced ossification of the humeral epiphysis - HP:0003893
Delayed humeral epiphyseal ossification - HP:0003894
Flattened humeral epiphyses - HP:0003895
Irregular humeral epiphyses - HP:0003896
Irregular ossification of the humeral epiphyses - HP:0003897
Large humeral epiphyses - HP:0003898
Round humeral epiphyses - HP:0003899
Small humeral epiphyses - HP:0003900
Stippled calcification of the humeral epiphyses - HP:0003901
Epiphyseal stippling of the humerus - HP:0003902
Broad humeral epiphyses - HP:0003903
Wide epiphyses of the upper limbs - HP:0003904
Abnormality of the humeral epiphyseal plate - HP:0003905
Broad humeral epiphyseal plate - HP:0003906
Abnormality of the humeral metaphyses - HP:0003907
Corner fracture of metaphysis - HP:0003908
Cortical subperiosteal resorption of humeral metaphyses - HP:0003909
Enlarged humeral metaphyses - HP:0003910
Flared humeral metaphysis - HP:0003911
Frayed humeral metaphyses - HP:0003912
Humeral metaphyseal irregularity - HP:0003913
Irregular ossification of humeral metaphyses - HP:0003914
Lytic defects of the humeral metaphysis - HP:0003915
Normal-density transverse humeral bands - HP:0003916
Pointed humeral metaphysis - HP:0003917
Sclerotic humeral metaphysis - HP:0003918
Sclerotic humeral metaphysis with longitudinal striations - HP:0003919
Sloping humeral metaphysis - HP:0003920
Laterally sloping humeral metaphysis - HP:0003921
Spurred humeral metaphysis - HP:0003922
Square humeral metaphysis - HP:0003923
Stippled calcification of humeral metaphysis - HP:0003924
Abnormality of the humeral diaphysis - HP:0003926
Cortical irregularity of humeral diaphysis - HP:0003927
Cortical thickening of humeral diaphysis - HP:0003928
Ground glass opacity of humeral diaphysis - HP:0003929
Lytic defects of humeral diaphysis - HP:0003930
Periosteal new bone of humeral diaphysis - HP:0003931
Sclerotic foci of humeral diaphysis - HP:0003932
Sclerosis of humeral diaphysis - HP:0003933
Slender humeral diaphysis - HP:0003934
Wide humeral diaphysis - HP:0003935
Synostosis involving the elbow - HP:0003938
Humeroulnar synostosis - HP:0003939
Osteoarthritis of the elbow - HP:0003940
Stippled calcification of the elbow - HP:0003941
Synovial chondromatosis of the elbow - HP:0003942
Abnormality of the joint spaces of the elbow - HP:0003943
Narrow joint spaces of the elbow - HP:0003944
Irregular articular surfaces of the elbow joints - HP:0003945
Abnormality of the epiphyses of the elbow - HP:0003946
Delayed elbow epiphyseal ossification - HP:0003947
Irregular epiphyses of the elbow - HP:0003948
Abnormality of the elbow metaphyses - HP:0003949
Flared elbow metaphyses - HP:0003950
Distal humeral metaphyseal irregularity - HP:0003951
Sclerotic foci of metaphyses of the elbow - HP:0003952
Absent forearm bone - HP:0003953
Angulated forearm bones - HP:0003954
Bone-in-a-bone appearance of forearm - HP:0003955
Bowed forearm bones - HP:0003956
Cortical thickening of the forearm bones - HP:0003957
Cross-fusion of the forearm bones - HP:0003958
Deformed forearm bones - HP:0003959
Exostoses of the forearm bones - HP:0003960
Fractured forearm bones - HP:0003961
Lytic defects of the forearm bones - HP:0003963
Osteoporotic forearm bones - HP:0003964
Pseudarthrosis of the forearm bones - HP:0003965
Sclerotic foci in forearm bones - HP:0003966
Sclerotic forearm bones - HP:0003967
Slender forearm bones - HP:0003969
Undermodelled forearm bones - HP:0003970
Broad forearm bones - HP:0003971
Wide radioulnar joints - HP:0003973
Absent radius - HP:0003974
obsolete Chevron-shaped/cone-shaped radius - HP:0003975
Constricted radius - HP:0003976
Deformed radius - HP:0003977
Fractured radius - HP:0003978
Lytic defects of the radius - HP:0003979
Pseudarthrosis of the radius - HP:0003980
Broad radius - HP:0003981
Aplasia of the ulna - HP:0003982
Posteriorly dislocated ulna - HP:0003984
Exostoses of the ulna - HP:0003985
Exostoses of the radius - HP:0003986
Fractured ulna - HP:0003987
Long ulna - HP:0003988
Notched ulna - HP:0003989
Pointed ulna - HP:0003990
Osteosclerosis of the ulna - HP:0003991
Slender ulna - HP:0003992
Broad ulna - HP:0003993
Dislocated wrist - HP:0003994
Abnormality of the radial head - HP:0003995
Flattened radial head - HP:0003996
Hypoplastic radial head - HP:0003997
Constricted radial neck - HP:0003998
Abnormality of radial epiphyses - HP:0003999
Cone-shaped distal radial epiphysis - HP:0004000
Medially deficient radial epiphyses - HP:0004001
Flattened radial epiphyses - HP:0004002
Medially flattened radial epiphyses - HP:0004003
Irregular radial epiphyses - HP:0004004
Large radial epiphyses - HP:0004005
Round radial epiphyses - HP:0004006
Sclerotic radial epiphyses - HP:0004007
Sloping radial epiphyses - HP:0004008
Medially sloping radial epiphyses - HP:0004009
Small radial epiphyses - HP:0004010
Premature fusion of the radial epiphyseal plates - HP:0004012
Medially fused radial epiphyseal plates - HP:0004013
Broad radial epiphyseal plate - HP:0004014
Abnormality of radial metaphyses - HP:0004015
Cupped radial metaphyses - HP:0004016
Exostoses of the radial metaphysis - HP:0004017
Flared radial metaphysis - HP:0004018
Radial metaphyseal irregularity - HP:0004019
Irregular ossification of the radial metaphysis - HP:0004020
Lytic defects of radial metaphysis - HP:0004021
Sclerotic radial metaphysis with longitudinal striations - HP:0004022
Sloping radial metaphysis - HP:0004023
Medially sloping radial metaphysis - HP:0004024
Spurred radial metaphysis - HP:0004025
Broad radial metaphysis - HP:0004026
Abnormality of radial diaphysis - HP:0004027
Spurs of radial diaphysis - HP:0004028
Lytic defects of radial diaphysis - HP:0004029
Patchy sclerosis of radial diaphysis - HP:0004030
Broad radial diaphysis - HP:0004031
Abnormality of the olecranon - HP:0004032
Curved olecranon - HP:0004033
Irregular olecranon - HP:0004034
Abnormality of the styloid process of ulna - HP:0004035
Long styloid process of ulna - HP:0004036
Abnormality of the ulnar epiphyses - HP:0004037
obsolete Bony spicule of ulnar epiphyseal plate - HP:0004038
Abnormality of ulnar metaphysis - HP:0004039
Corner fragments of ulnar metaphysis - HP:0004040
Cupped ulnar metaphysis - HP:0004041
Ulnar metaphyseal irregularity - HP:0004042
Lytic defects of ulnar metaphysis - HP:0004043
Pointed ulnar metaphysis - HP:0004044
Sloping ulnar metaphysis - HP:0004045
Spurred ulnar metaphysis - HP:0004046
Wide ulnar metaphysis - HP:0004047
Narrow joint spaces of wrist - HP:0004048
Decreased carpal angles of wrist - HP:0004049
Absent hand - HP:0004050
Advanced ossification of the hand bones - HP:0004051
Delayed ossification of the hand bones - HP:0004052
Dysharmonic maturation of the hand bones - HP:0004053
Sclerosis of hand bone - HP:0004054
Mitten deformity - HP:0004057
Hand monodactyly - HP:0004058
Radial club hand - HP:0004059
Trident hand - HP:0004060
obsolete Laterally deviated thumb phalanges - HP:0004066
obsolete Laterally deviated terminal thumb phalanx - HP:0004083
obsolete Advanced maturation/advanced ossification of terminal thumb phalanx epiphysis - HP:0004090
Curved fingers - HP:0004095
Deviation of finger - HP:0004097
Macrodactyly - HP:0004099
Abnormal 2nd finger morphology - HP:0004100
obsolete Radially deviated index finger phalanges - HP:0004110
Midline nasal groove - HP:0004112
obsolete Radially displaced proximal index finger phalanx - HP:0004121
Midline defect of the nose - HP:0004122
Dimple on nasal tip - HP:0004132
obsolete Metaphyseal abnormality of middle phalanx of the 2nd finger - HP:0004138
obsolete Flared metaphysis of middle phalanx of index finger - HP:0004139
obsolete Radially deviated terminal index finger phalanx - HP:0004143
obsolete Duplication of terminal index finger phalanx - HP:0004144
Abnormal 3rd finger morphology - HP:0004150
obsolete Overgrowth of middle finger - HP:0004153
obsolete Accessory middle-finger phalanges - HP:0004157
obsolete Periosteal new bone of middle finger phalanges - HP:0004161
obsolete Radially pointed middle finger phalanges - HP:0004162
obsolete Radially pointed proximal middle-finger phalanx - HP:0004168
Abnormality of the middle phalanx of the 3rd finger - HP:0004172
obsolete Accessory middle phalanx of middle finger - HP:0004174
obsolete Periosteal new bone of middle phalanx of middle-finger - HP:0004175
Short distal phalanx of the 3rd finger - HP:0004180
obsolete Abnormality of the epiphyses of the terminal phalanx of the middle finger - HP:0004183
obsolete Cone-shaped epiphysis of terminal phalanx of the middle finger - HP:0004184
obsolete Fused epiphysis of terminal phalanx of the middle finger - HP:0004185
obsolete Large epiphysis of terminal phalanx of the middle finger - HP:0004186
obsolete Prematurely fused epiphysis of terminal phalanx of the middle finger - HP:0004187
Abnormal 4th finger morphology - HP:0004188
obsolete Bracket epiphyses of the 4th finger - HP:0004192
obsolete Expanded phalanges of the ring finger - HP:0004193
obsolete Hypoplastic phalanges of the ring finger - HP:0004194
Osteolytic defects of the phalanges of the 4th finger - HP:0004195
obsolete Short phalanges of the ring finger - HP:0004196
Symphalangism of the 4th finger - HP:0004197
obsolete Wide/broad phalanges of the ring finger - HP:0004198
obsolete Expanded proximal phalanx of the ring finger - HP:0004201
obsolete Lytic defects of the proximal phalanx of the ring finger - HP:0004202
obsolete Short proximal phalanx of the ring finger - HP:0004203
Abnormal 5th finger morphology - HP:0004207
Clinodactyly of the 5th finger - HP:0004209
Abnormal 5th finger phalanx morphology - HP:0004213
Curved phalanges of the 5th finger - HP:0004214
Osteolytic defects of the phalanges of the 5th finger - HP:0004216
Symphalangism of the 5th finger - HP:0004218
Abnormality of the middle phalanx of the 5th finger - HP:0004219
Short middle phalanx of the 5th finger - HP:0004220
Cone-shaped epiphysis of the distal phalanx of the 5th finger - HP:0004222
Ivory epiphysis of the distal phalanx of the 5th finger - HP:0004223
Abnormality of the epiphysis of the middle phalanx of the 5th finger - HP:0004224
Abnormality of the distal phalanx of the 5th finger - HP:0004225
Curved distal phalanx of the 5th finger - HP:0004226
Short distal phalanx of the 5th finger - HP:0004227
Subluxation of the proximal interphalangeal joint of the little finger - HP:0004230
Carpal bone aplasia - HP:0004231
Accessory carpal bones - HP:0004232
Advanced ossification of carpal bones - HP:0004233
Bone-in-a-bone appearance of carpal bones - HP:0004234
Comma-shaped carpal bones - HP:0004235
Irregular carpal bones - HP:0004236
Large carpal bones - HP:0004237
Lytic defects of carpal bones - HP:0004238
Proximally placed carpal bones - HP:0004239
Sclerotic foci within carpal bones - HP:0004240
Stippled calcification in carpal bones - HP:0004241
Broad carpal bones - HP:0004242
Abnormality of the scaphoid - HP:0004243
Accessory scaphoid - HP:0004244
Comma-shaped scaphoid - HP:0004245
Delayed ossification of the scaphoid - HP:0004246
Small scaphoid - HP:0004247
Abnormality of the lunate bone - HP:0004248
Accessory lunate - HP:0004249
Proximally placed lunate - HP:0004250
Lunate-triquetral fusion - HP:0004251
Abnormality of the trapezium - HP:0004252
Absent trapezium - HP:0004253
Delayed ossification of the trapezium - HP:0004254
Small trapezium - HP:0004255
Abnormality of the trapezoid bone - HP:0004256
Delayed ossification of the trapezoid bone - HP:0004257
Small trapezoid bone - HP:0004258
Abnormality of the hamate bone - HP:0004259
Large hamate bone - HP:0004260
Wide hamate bone - HP:0004261
Abnormality of the capitate bone - HP:0004262
Large capitate bone - HP:0004263
Narrow carpal joint spaces - HP:0004264
Narrow small joints of the hand - HP:0004267
Osteoarthritis of the small joints of the hand - HP:0004268
Subluxation of the small joints of the hand - HP:0004269
Cortical thickening of hand bones - HP:0004271
Cortical thinning of hand bones - HP:0004272
Cupped metaphyses of hand bones - HP:0004273
Deficient ossification of hand bones - HP:0004274
Duplication of hand bones - HP:0004275
Exostoses of hand bones - HP:0004276
Fractured hand bones - HP:0004277
Synostosis involving bones of the hand - HP:0004278
Short palm - HP:0004279
Irregular ossification of hand bones - HP:0004280
Irregular sclerosis of hand bones - HP:0004281
Narrow palm - HP:0004283
Notched hand bones - HP:0004284
Overmodelled hand bones - HP:0004285
Patchy sclerosis of hand bones - HP:0004286
Pointed hand bones - HP:0004287
Pseudoepiphyses of hand bones - HP:0004288
Sclerotic foci in hand bones - HP:0004289
Sclerosis of hand bones with transverse striations - HP:0004290
Stippled calcification of hand bones - HP:0004291
Undermodelled hand bones - HP:0004292
Synostosis of second metacarpal-trapezoid - HP:0004293
Subluxation of metacarpal phalangeal joints - HP:0004294
Abnormality of the gastric mucosa - HP:0004295
Abnormality of gastrointestinal vasculature - HP:0004296
Abnormality of the biliary system - HP:0004297
Abnormality of the abdominal wall - HP:0004298
Hernia of the abdominal wall - HP:0004299
Functional motor deficit - HP:0004302
Abnormal muscle fiber morphology - HP:0004303
Involuntary movements - HP:0004305
Abnormal endocardium morphology - HP:0004306
Abnormal anatomic location of the heart - HP:0004307
Ventricular arrhythmia - HP:0004308
Ventricular preexcitation - HP:0004309
Abnormal macrophage morphology - HP:0004311
Abnormal reticulocyte morphology - HP:0004312
Decreased antibody level in blood - HP:0004313
Decreased circulating IgG level - HP:0004315
Decreased circulating aldosterone level - HP:0004319
Vaginal fistula - HP:0004320
Bladder fistula - HP:0004321
Short stature - HP:0004322
Abnormality of body weight - HP:0004323
Increased body weight - HP:0004324
Decreased body weight - HP:0004325
Cachexia - HP:0004326
Abnormal vitreous humor morphology - HP:0004327
Abnormal anterior eye segment morphology - HP:0004328
Abnormal posterior eye segment morphology - HP:0004329
Increased skull ossification - HP:0004330
Decreased skull ossification - HP:0004331
Abnormal lymphocyte morphology - HP:0004332
Bone-marrow foam cells - HP:0004333
Dermal atrophy - HP:0004334
Myelin outfoldings - HP:0004336
Abnormality of amino acid metabolism - HP:0004337
Abnormal circulating aromatic amino acid concentration - HP:0004338
Abnormal circulating sulfur amino acid concentration - HP:0004339
Abnormality of vitamin B metabolism - HP:0004340
Abnormality of vitamin B12 metabolism - HP:0004341
Abnormality of galactoside metabolism - HP:0004342
Abnormality of glycosphingolipid metabolism - HP:0004343
Abnormality of cerebrosidase metabolism - HP:0004344
Ganglioside accumulation - HP:0004345
Weakness of muscles of respiration - HP:0004347
Abnormality of bone mineral density - HP:0004348
Reduced bone mineral density - HP:0004349
Abnormal circulating purine concentration - HP:0004352
Abnormal circulating pyrimidine concentration - HP:0004353
Abnormal circulating carboxylic acid concentration - HP:0004354
obsolete Abnormality of proteoglycan metabolism - HP:0004355
Abnormality of lysosomal metabolism - HP:0004356
Abnormal circulating leucine concentration - HP:0004357
Abnormality of superoxide metabolism - HP:0004358
Abnormal circulating fatty-acid concentration - HP:0004359
Abnormality of acid-base homeostasis - HP:0004360
Abnormality of circulating leptin level - HP:0004361
Abnormality of enteric ganglion morphology - HP:0004362
Abnormal circulating calcium concentration - HP:0004363
Abnormal circulating nitrogen compound concentration - HP:0004364
Abnormal circulating tryptophan concentration - HP:0004365
Abnormality of glycolysis - HP:0004366
obsolete Abnormality of glycoprotein metabolism - HP:0004367
Increased purine level - HP:0004368
Decreased purine level - HP:0004369
Abnormality of temperature regulation - HP:0004370
Abnormality of glycosaminoglycan metabolism - HP:0004371
Reduced consciousness/confusion - HP:0004372
Focal dystonia - HP:0004373
Hemiplegia/hemiparesis - HP:0004374
Neoplasm of the nervous system - HP:0004375
Neuroblastic tumor - HP:0004376
Hematological neoplasm - HP:0004377
Abnormality of the anus - HP:0004378
Abnormality of alkaline phosphatase activity - HP:0004379
Aortic valve calcification - HP:0004380
Supravalvular aortic stenosis - HP:0004381
Mitral valve calcification - HP:0004382
Hypoplastic left heart - HP:0004383
Type I truncus arteriosus - HP:0004384
Protracted diarrhea - HP:0004385
Gastrointestinal inflammation - HP:0004386
Enterocolitis - HP:0004387
Microcolon - HP:0004388
Intestinal pseudo-obstruction - HP:0004389
Hamartomatous polyposis - HP:0004390
Prune belly - HP:0004392
Multiple gastric polyps - HP:0004394
Malnutrition - HP:0004395
Poor appetite - HP:0004396
Ectopic anus - HP:0004397
Peptic ulcer - HP:0004398
Congenital pyloric atresia - HP:0004399
Abnormality of the pylorus - HP:0004400
Meconium ileus - HP:0004401
Proximal esophageal atresia - HP:0004403
Abnormal nipple morphology - HP:0004404
Prominent nipples - HP:0004405
Spontaneous, recurrent epistaxis - HP:0004406
Bony paranasal bossing - HP:0004407
Abnormality of the sense of smell - HP:0004408
Hyposmia - HP:0004409
Deviated nasal septum - HP:0004411
Abnormality of the pulmonary artery - HP:0004414
Pulmonary artery stenosis - HP:0004415
Precocious atherosclerosis - HP:0004416
Intermittent claudication - HP:0004417
Thrombophlebitis - HP:0004418
Recurrent thrombophlebitis - HP:0004419
Arterial thrombosis - HP:0004420
Elevated systolic blood pressure - HP:0004421
Biparietal narrowing - HP:0004422
Cranium bifidum occultum - HP:0004423
Flat forehead - HP:0004425
Abnormality of the cheek - HP:0004426
Elfin facies - HP:0004428
Recurrent viral infections - HP:0004429
Severe combined immunodeficiency - HP:0004430
Complement deficiency - HP:0004431
Agammaglobulinemia - HP:0004432
Secretory IgA deficiency - HP:0004433
C8 deficiency - HP:0004434
Cranial hyperostosis - HP:0004437
Hyperostosis frontalis interna - HP:0004438
Craniofacial dysostosis - HP:0004439
Coronal craniosynostosis - HP:0004440
Sagittal craniosynostosis - HP:0004442
Lambdoidal craniosynostosis - HP:0004443
Spherocytosis - HP:0004444
Elliptocytosis - HP:0004445
Stomatocytosis - HP:0004446
Poikilocytosis - HP:0004447
Fulminant hepatic failure - HP:0004448
Preauricular skin furrow - HP:0004450
Postauricular skin tag - HP:0004451
Abnormality of the middle ear ossicles - HP:0004452
Overfolding of the superior helices - HP:0004453
Abnormal middle ear reflexes - HP:0004454
Dilatated internal auditory canal - HP:0004458
Exostosis of the external auditory canal - HP:0004459
Congenital earlobe sinuses - HP:0004461
Absent brainstem auditory responses - HP:0004463
Postauricular pit - HP:0004464
Prolonged brainstem auditory evoked potentials - HP:0004466
Preauricular pit - HP:0004467
Anomalous tracheal cartilage - HP:0004468
Chronic bronchitis - HP:0004469
Atretic occipital cephalocele - HP:0004470
Aplasia cutis congenita over the scalp vertex - HP:0004471
Mandibular hyperostosis - HP:0004472
Persistent open anterior fontanelle - HP:0004474
Aplasia cutis congenita over parietal area - HP:0004476
Ethmoidal encephalocele - HP:0004478
Progressive macrocephaly - HP:0004481
Relative macrocephaly - HP:0004482
Craniofacial asymmetry - HP:0004484
Cessation of head growth - HP:0004485
Acrobrachycephaly - HP:0004487
Macrocephaly at birth - HP:0004488
Calvarial hyperostosis - HP:0004490
Large posterior fontanelle - HP:0004491
Widely patent fontanelles and sutures - HP:0004492
Craniofacial hyperostosis - HP:0004493
Thin anteverted nares - HP:0004495
Posterior choanal atresia - HP:0004496
Chronic rhinitis due to narrow nasal airway - HP:0004499
Bilateral choanal atresia - HP:0004502
Pancreatic islet-cell hyperplasia - HP:0004510
Long eyebrows - HP:0004523
Temporal hypotrichosis - HP:0004524
Large clumps of pigment irregularly distributed along hair shaft - HP:0004527
Generalized hypotrichosis - HP:0004528
Atrophic, patchy alopecia - HP:0004529
Sacral hypertrichosis - HP:0004532
Anterior cervical hypertrichosis - HP:0004535
Congenital, generalized hypertrichosis - HP:0004540
obsolete Pointed frontal hairline - HP:0004544
Scarring alopecia of scalp - HP:0004552
Generalized hypertrichosis - HP:0004554
Anterior vertebral fusion - HP:0004557
Cervical platyspondyly - HP:0004558
Beaking of vertebral bodies T12-L3 - HP:0004562
Increased spinal bone density - HP:0004563
Severe platyspondyly - HP:0004565
Pear-shaped vertebrae - HP:0004566
Beaking of vertebral bodies - HP:0004568
Increased vertebral height - HP:0004570
Widening of cervical spinal canal - HP:0004571
Anterior wedging of T11 - HP:0004573
Fusion of midcervical facet joints - HP:0004575
Sclerotic vertebral endplates - HP:0004576
Anterior scalloping of vertebral bodies - HP:0004580
Increased anterior vertebral height - HP:0004581
Irregularity of vertebral bodies - HP:0004582
Biconcave vertebral bodies - HP:0004586
Dysplasia of second lumbar vertebra - HP:0004589
Hypoplastic sacrum - HP:0004590
Disc-like vertebral bodies - HP:0004591
Thoracic platyspondyly - HP:0004592
Hump-shaped mound of bone in central and posterior portions of vertebral endplate - HP:0004594
Supernumerary vertebral ossification centers - HP:0004598
Absent or minimally ossified vertebral bodies - HP:0004599
Spina bifida occulta at L5 - HP:0004601
Cervical C2/C3 vertebral fusion - HP:0004602
Hyperconvex vertebral body endplates - HP:0004603
Absent vertebral body mineralization - HP:0004605
Unossified vertebral bodies - HP:0004606
Anterior beaking of lower thoracic vertebrae - HP:0004607
Anteriorly placed odontoid process - HP:0004608
Patchy distortion of vertebrae - HP:0004609
Lumbar spinal canal stenosis - HP:0004610
Anterior concavity of thoracic vertebrae - HP:0004611
Spina bifida occulta at S1 - HP:0004614
Cleft vertebral arch - HP:0004616
Butterfly vertebral arch - HP:0004617
Sandwich appearance of vertebral bodies - HP:0004618
Lumbar kyphoscoliosis - HP:0004619
Enlarged vertebral pedicles - HP:0004621
Progressive intervertebral space narrowing - HP:0004622
Biconvex vertebral bodies - HP:0004625
Lumbar scoliosis - HP:0004626
Small cervical vertebral bodies - HP:0004629
Anterior beaking of thoracic vertebrae - HP:0004630
Decreased cervical spine flexion due to contractures of posterior cervical muscles - HP:0004631
Cervical segmentation defect - HP:0004632
Lower thoracic kyphosis - HP:0004633
Cuboid-shaped vertebral bodies - HP:0004634
Cervical C5/C6 vertebrae fusion - HP:0004635
Decreased cervical spine mobility - HP:0004637
Elevated amniotic fluid alpha-fetoprotein - HP:0004639
Hypoplasia of the nasal bone - HP:0004646
Hypoplasia of facial musculature - HP:0004660
Frontalis muscle weakness - HP:0004661
Facial midline hemangioma - HP:0004664
Decreased facial expression - HP:0004673
Prominent supraorbital arches in adult - HP:0004676
Large tarsal bones - HP:0004679
Deep longitudinal plantar crease - HP:0004681
Talipes valgus - HP:0004684
Short third metatarsal - HP:0004686
Irregular tarsal bones - HP:0004688
Short fourth metatarsal - HP:0004689
Thickened Achilles tendon - HP:0004690
2-3 toe syndactyly - HP:0004691
4-5 toe syndactyly - HP:0004692
Calcaneal epiphyseal stippling - HP:0004695
Talipes cavus equinovarus - HP:0004696
Osteoporotic metatarsal - HP:0004699
Short fifth metatarsal - HP:0004704
Renal malrotation - HP:0004712
Reversible renal failure - HP:0004713
Axial malrotation of the kidney - HP:0004717
Hyperechogenic kidneys - HP:0004719
Thickening of the glomerular basement membrane - HP:0004722
Calcium nephrolithiasis - HP:0004724
Impaired renal concentrating ability - HP:0004727
Acute tubulointerstitial nephritis - HP:0004729
Impaired renal uric acid clearance - HP:0004732
Renal cortical microcysts - HP:0004734
Crossed fused renal ectopia - HP:0004736
Global glomerulosclerosis - HP:0004737
Abnormal renal collecting system morphology - HP:0004742
Chronic tubulointerstitial nephritis - HP:0004743
Glomerular subendothelial electron-dense deposits - HP:0004746
Atrial flutter - HP:0004749
Paroxysmal ventricular tachycardia - HP:0004751
Congenital atrioventricular dissociation - HP:0004752
Permanent atrial fibrillation - HP:0004754
Supraventricular tachycardia - HP:0004755
Ventricular tachycardia - HP:0004756
Paroxysmal atrial fibrillation - HP:0004757
Effort-induced polymorphic ventricular tachycardia - HP:0004758
obsolete Nodular calcific aortic valve disease - HP:0004759
obsolete Congenital septal defect - HP:0004760
Post-angioplasty coronary artery restenosis - HP:0004761
Hypoplasia of right ventricle - HP:0004762
Paroxysmal supraventricular tachycardia - HP:0004763
Myxomatous mitral valve degeneration - HP:0004764
Sparse anterior scalp hair - HP:0004768
Premature graying of body hair - HP:0004771
Brittle scalp hair - HP:0004779
Elbow hypertrichosis - HP:0004780
obsolete Hypotrichosis of the scalp - HP:0004782
Duodenal polyposis - HP:0004783
Juvenile gastrointestinal polyposis - HP:0004784
Malrotation of colon - HP:0004785
Jejunal diverticula - HP:0004786
Fulminant hepatitis - HP:0004787
Intestinal lymphedema - HP:0004788
Lactose intolerance - HP:0004789
Hypoplasia of the small intestine - HP:0004790
Esophageal ulceration - HP:0004791
Rectoperineal fistula - HP:0004792
Malrotation of small bowel - HP:0004794
Hamartomatous stomach polyps - HP:0004795
Gastrointestinal obstruction - HP:0004796
Multiple small bowel atresias - HP:0004797
Recurrent infection of the gastrointestinal tract - HP:0004798
Jejunoileal diverticula - HP:0004799
Duodenal diverticula - HP:0004800
Episodic hemolytic anemia - HP:0004802
Congenital hemolytic anemia - HP:0004804
Acute myeloid leukemia - HP:0004808
Neonatal alloimmune thrombocytopenia - HP:0004809
Congenital hypoplastic anemia - HP:0004810
B Acute Lymphoblastic Leukemia - HP:0004812
Post-transfusion thrombocytopenia - HP:0004813
Fava bean-induced hemolytic anemia - HP:0004814
Drug-sensitive hemolytic anemia - HP:0004817
Paroxysmal nocturnal hemoglobinuria - HP:0004818
Normocytic hypoplastic anemia - HP:0004819
Acute myelomonocytic leukemia - HP:0004820
Hypersegmentation of neutrophil nuclei - HP:0004821
Atypical elliptocytosis - HP:0004822
Anisopoikilocytosis - HP:0004823
Increased hemoglobin oxygen affinity - HP:0004825
Folate-unresponsive megaloblastic anemia - HP:0004826
Refractory anemia with ringed sideroblasts - HP:0004828
Recurrent thromboembolism - HP:0004831
Microspherocytosis - HP:0004835
Acute promyelocytic leukemia - HP:0004836
Pyropoikilocytosis - HP:0004839
Hypochromic microcytic anemia - HP:0004840
Reduced factor XII activity - HP:0004841
Coombs-positive hemolytic anemia - HP:0004844
Acute monocytic leukemia - HP:0004845
Prolonged bleeding after surgery - HP:0004846
Ph-positive acute lymphoblastic leukemia - HP:0004848
Recurrent deep vein thrombosis - HP:0004850
Folate-responsive megaloblastic anemia - HP:0004851
Reduced leukocyte alkaline phosphatase - HP:0004852
Intermittent thrombocytopenia - HP:0004854
Reduced protein S activity - HP:0004855
Normochromic microcytic anemia - HP:0004856
Hyperchromic macrocytic anemia - HP:0004857
Amegakaryocytic thrombocytopenia - HP:0004859
Thiamine-responsive megaloblastic anemia - HP:0004860
Refractory macrocytic anemia - HP:0004861
Compensated hemolytic anemia - HP:0004863
Refractory sideroblastic anemia - HP:0004864
Impaired ADP-induced platelet aggregation - HP:0004866
Chronic hemolytic anemia - HP:0004870
Perineal fistula - HP:0004871
Incisional hernia - HP:0004872
Neonatal inspiratory stridor - HP:0004875
Spontaneous neonatal pneumothorax - HP:0004876
Intercostal muscle weakness - HP:0004878
Intermittent hyperventilation - HP:0004879
Respiratory infections in early life - HP:0004880
Episodic hypoventilation - HP:0004881
Episodic respiratory distress - HP:0004885
Congenital laryngeal stridor - HP:0004886
Respiratory failure requiring assisted ventilation - HP:0004887
Intermittent episodes of respiratory insufficiency due to muscle weakness - HP:0004889
Elevated pulmonary artery pressure - HP:0004890
Recurrent infections due to aspiration - HP:0004891
Laryngotracheal stenosis - HP:0004894
Stress/infection-induced lactic acidosis - HP:0004897
Persistent lactic acidosis - HP:0004898
Severe lactic acidosis - HP:0004900
Exercise-induced lactic acidemia - HP:0004901
Congenital lactic acidosis - HP:0004902
Maturity-onset diabetes of the young - HP:0004904
Low levels of vitamin A - HP:0004905
Hypernatremic dehydration - HP:0004906
Hypokalemic hypochloremic metabolic alkalosis - HP:0004909
Bicarbonate-wasting renal tubular acidosis - HP:0004910
Episodic metabolic acidosis - HP:0004911
Hypophosphatemic rickets - HP:0004912
Intermittent lactic acidemia - HP:0004913
Recurrent infantile hypoglycemia - HP:0004914
Impairment of galactose metabolism - HP:0004915
Generalized distal tubular acidosis - HP:0004916
Hyperchloremic metabolic acidosis - HP:0004918
Galactose intolerance - HP:0004919
Phenylpyruvic acidemia - HP:0004920
Abnormal magnesium concentration - HP:0004921
Atypical hyperphenylalaninemia - HP:0004922
Hyperphenylalaninemia - HP:0004923
Abnormal oral glucose tolerance - HP:0004924
Chronic lactic acidosis - HP:0004925
Orthostatic hypotension due to autonomic dysfunction - HP:0004926
Pulmonary artery dilatation - HP:0004927
obsolete Peripheral arterial stenosis - HP:0004928
obsolete Coronary atherosclerosis - HP:0004929
Abnormality of the pulmonary vasculature - HP:0004930
Arteriosclerosis of small cerebral arteries - HP:0004931
Ascending aortic dissection - HP:0004933
Vascular calcification - HP:0004934
Pulmonary artery atresia - HP:0004935
Venous thrombosis - HP:0004936
Pulmonary artery aneurysm - HP:0004937
Tortuous cerebral arteries - HP:0004938
Generalized arterial calcification - HP:0004940
Extrahepatic portal hypertension - HP:0004941
Aortic aneurysm - HP:0004942
Accelerated atherosclerosis - HP:0004943
Dilatation of the cerebral artery - HP:0004944
Extracranial internal carotid artery dissection - HP:0004945
Arteriovenous fistula - HP:0004947
Vascular tortuosity - HP:0004948
Peripheral arterial stenosis - HP:0004950
Pulmonary arteriovenous fistulas - HP:0004952
obsolete Dilatation of abdominal aorta - HP:0004953
obsolete Dilatation of the descending aorta - HP:0004954
Generalized arterial tortuosity - HP:0004955
Descending thoracic aorta aneurysm - HP:0004959
Absent pulmonary artery - HP:0004960
Pulmonary artery sling - HP:0004961
Thoracic aorta calcification - HP:0004962
Calcification of the aorta - HP:0004963
Pulmonary arterial medial hypertrophy - HP:0004964
Medial calcification of large arteries - HP:0004966
Recurrent cerebral hemorrhage - HP:0004968
Peripheral pulmonary artery stenosis - HP:0004969
Ascending tubular aorta aneurysm - HP:0004970
Pulmonary artery hypoplasia - HP:0004971
Elevated mean arterial pressure - HP:0004972
Coarctation of abdominal aorta - HP:0004974
Erlenmeyer flask deformity of the femurs - HP:0004975
Knee dislocation - HP:0004976
Bilateral radial aplasia - HP:0004977
Metaphyseal sclerosis - HP:0004979
Metaphyseal rarefaction - HP:0004980
Prominent styloid process of ulna - HP:0004981
obsolete Rudimentary to absent fibulae - HP:0004986
Mesomelic leg shortening - HP:0004987
Epiphyseal streaking - HP:0004990
Rhizomelic arm shortening - HP:0004991
Slender long bones with narrow diaphyses - HP:0004993
Multicentric ossification of proximal humeral epiphyses - HP:0004997
Recurrent patellar dislocation - HP:0005001
Aplasia/Hypoplasia of the capital femoral epiphysis - HP:0005003
Flattened proximal radial epiphyses - HP:0005004
Femoral bowing present at birth, straightening with time - HP:0005005
Large joint dislocations - HP:0005008
Dumbbell-shaped humerus - HP:0005009
Osteomyelitis leading to amputation due to slow healing fractures - HP:0005010
Mesomelic arm shortening - HP:0005011
Dysplastic distal radial epiphyses - HP:0005013
Polyarticular chondrocalcinosis - HP:0005017
Diaphyseal thickening - HP:0005019
Bilateral elbow dislocations - HP:0005021
Hypoplastic distal humeri - HP:0005025
Mesomelic/rhizomelic limb shortening - HP:0005026
Widened proximal tibial metaphyses - HP:0005028
Distal ulnar hypoplasia - HP:0005033
Shortening of all phalanges of the toes - HP:0005035
Unilateral ulnar hypoplasia - HP:0005036
Proximal radio-ulnar synostosis - HP:0005037
Multiple long-bone exostoses - HP:0005039
Irregular capital femoral epiphysis - HP:0005041
Irregular, rachitic-like metaphyses - HP:0005042
Proximal humeral metaphyseal irregularity - HP:0005043
Diaphyseal cortical sclerosis - HP:0005045
Synostosis of carpal bones - HP:0005048
Anterolateral radial head dislocation - HP:0005050
Metaphyseal spurs - HP:0005054
Arthralgia/arthritis - HP:0005059
Limited elbow flexion/extension - HP:0005060
Fragmented, irregular epiphyses - HP:0005063
Cone-shaped epiphyses fused within their metaphyses - HP:0005066
Proximal fibular overgrowth - HP:0005067
Absent styloid process of ulna - HP:0005068
Rhizo-meso-acromelic limb shortening - HP:0005069
Proximal radial head dislocation - HP:0005070
Hyperextensibility at wrists - HP:0005072
Anterior radial head dislocation - HP:0005084
Limited knee flexion/extension - HP:0005085
Knee osteoarthritis - HP:0005086
Abnormal metaphyseal trabeculation - HP:0005089
Lateral femoral bowing - HP:0005090
Streaky metaphyseal sclerosis - HP:0005092
Absent proximal radial epiphyses - HP:0005093
Distal femoral bowing - HP:0005096
Severe hydrops fetalis - HP:0005099
Premature birth following premature rupture of fetal membranes - HP:0005100
High-frequency hearing impairment - HP:0005101
Cochlear degeneration - HP:0005102
Calcification of the auricular cartilage - HP:0005103
Hypoplastic nasal septum - HP:0005104
Abnormal nasal morphology - HP:0005105
Abnormality of the vertebral endplates - HP:0005106
Abnormal sacrum morphology - HP:0005107
Abnormality of the intervertebral disk - HP:0005108
Abnormality of the Achilles tendon - HP:0005109
Atrial fibrillation - HP:0005110
obsolete Dilatation of the ascending aorta - HP:0005111
Abdominal aortic aneurysm - HP:0005112
Aortic arch aneurysm - HP:0005113
obsolete Abnormalities of the peripheral arteries - HP:0005114
Supraventricular arrhythmia - HP:0005115
Arterial tortuosity - HP:0005116
Elevated diastolic blood pressure - HP:0005117
Abnormal cardiac atrium morphology - HP:0005120
Posterior scalloping of vertebral bodies - HP:0005121
Congenital hypertrophy of left ventricle - HP:0005129
obsolete Restrictive heart failure - HP:0005130
Pericardial constriction - HP:0005132
Right ventricular dilatation - HP:0005133
Absence of the pulmonary valve - HP:0005134
Abnormal T-wave - HP:0005135
Mitral annular calcification - HP:0005136
obsolete Episodes of ventricular tachycardia - HP:0005141
Anomalous origin of right pulmonary artery from ascending aorta - HP:0005143
Ventricular septal hypertrophy - HP:0005144
Coronary artery stenosis - HP:0005145
Cardiac valve calcification - HP:0005146
Bidirectional ventricular ectopy - HP:0005147
Pulmonary valve defects - HP:0005148
Abnormal atrioventricular conduction - HP:0005150
Preductal coarctation of the aorta - HP:0005151
Histiocytoid cardiomyopathy - HP:0005152
Ventricular escape rhythm - HP:0005155
Hypoplastic left atrium - HP:0005156
Concentric hypertrophic cardiomyopathy - HP:0005157
Total anomalous pulmonary venous return - HP:0005160
Left ventricular dysfunction - HP:0005162
Dysplastic pulmonary valve - HP:0005164
Shortened PR interval - HP:0005165
Elevated right atrial pressure - HP:0005168
Complete heart block with broad QRS complexes - HP:0005170
Left posterior fascicular block - HP:0005172
obsolete Calcific aortic valve stenosis - HP:0005173
Membranous subvalvular aortic stenosis - HP:0005174
Dysplastic aortic valve - HP:0005176
Premature arteriosclerosis - HP:0005177
Complete heart block with narrow QRS complexes - HP:0005178
Tricuspid regurgitation - HP:0005180
Premature coronary artery atherosclerosis - HP:0005181
Bicuspid pulmonary valve - HP:0005182
Pericardial lymphangiectasia - HP:0005183
Prolonged QTc interval - HP:0005184
Global systolic dysfunction - HP:0005185
Synovial hypertrophy - HP:0005186
Progressive joint destruction - HP:0005187
Proximal finger joint hyperextensibility - HP:0005190
Congenital knee dislocation - HP:0005191
Restricted large joint movement - HP:0005193
Flattened metatarsal heads - HP:0005194
Polyarticular arthropathy - HP:0005195
Generalized morning stiffness - HP:0005197
Stiff interphalangeal joints - HP:0005198
Aplasia of the abdominal wall musculature - HP:0005199
Retroperitoneal fibrosis - HP:0005200
Anomalous splenoportal venous system - HP:0005201
Helicobacter pylori infection - HP:0005202
Spontaneous esophageal perforation - HP:0005203
Pancreatic pseudocyst - HP:0005206
Gastric hypertrophy - HP:0005207
Secretory diarrhea - HP:0005208
Intrahepatic bile duct cysts - HP:0005209
Hypoplastic colon - HP:0005210
Midgut malrotation - HP:0005211
Anal mucosal leukoplakia - HP:0005212
Pancreatic calcification - HP:0005213
Intestinal obstruction - HP:0005214
Frequent Giardia lamblia infestation - HP:0005215
Impaired mastication - HP:0005216
Duplication of internal organs - HP:0005217
Anoperineal fistula - HP:0005218
Absence of intrinsic factor - HP:0005219
Multiple intestinal neurofibromatosis - HP:0005220
Bowel diverticulosis - HP:0005222
Duplicated colon - HP:0005223
Rectal abscess - HP:0005224
Intestinal edema - HP:0005225
Adenomatous colonic polyposis - HP:0005227
Jejunoileal ulceration - HP:0005229
Biliary tract obstruction - HP:0005230
Chronic gastritis - HP:0005231
Pancreatic dysplasia - HP:0005232
Hypoplasia of the gallbladder - HP:0005233
Neonatal intestinal obstruction - HP:0005234
Jejunal atresia - HP:0005235
Chronic calcifying pancreatitis - HP:0005236
Degenerative liver disease - HP:0005237
Discrete intestinal polyps - HP:0005238
Esophageal obstruction - HP:0005240
Total intestinal aganglionosis - HP:0005241
Extrahepatic biliary duct atresia - HP:0005242
Partial abdominal muscle agenesis - HP:0005243
Gastrointestinal infarctions - HP:0005244
Intestinal hypoplasia - HP:0005245
Giant hypertrophic gastritis - HP:0005246
Hypoplasia of the abdominal wall musculature - HP:0005247
Intrahepatic biliary atresia - HP:0005248
Functional intestinal obstruction - HP:0005249
High intestinal obstruction - HP:0005250
Increased anterioposterior diameter of thorax - HP:0005253
Unilateral chest hypoplasia - HP:0005254
Absence of pectoralis minor muscle - HP:0005255
Unilateral absence of pectoralis major muscle - HP:0005256
Thoracic hypoplasia - HP:0005257
Pectoral muscle hypoplasia/aplasia - HP:0005258
Abnormal facility in opposing the shoulders - HP:0005259
Joint hemorrhage - HP:0005261
Abnormality of the synovia - HP:0005262
Gastritis - HP:0005263
Abnormality of the gallbladder - HP:0005264
Abnormality of the jejunum - HP:0005265
Intestinal polyp - HP:0005266
Premature delivery because of cervical insufficiency or membrane fragility - HP:0005267
Spontaneous abortion - HP:0005268
Prominent nasolabial fold - HP:0005272
Absent nasal septal cartilage - HP:0005273
Prominent nasal tip - HP:0005274
Cartilaginous ossification of nose - HP:0005275
Hypoplastic nasal tip - HP:0005278
Depressed nasal bridge - HP:0005280
Hypoplastic nasal bridge - HP:0005281
Absent nasal bridge - HP:0005285
Abnormality of the nares - HP:0005288
Abnormality of the nasolabial region - HP:0005289
Internal carotid artery hypoplasia - HP:0005290
Inflammatory arteriopathy - HP:0005291
Intimal thickening in the coronary arteries - HP:0005292
Venous insufficiency - HP:0005293
Arterial dissection - HP:0005294
Pseudocoarctation of the aorta - HP:0005295
obsolete Occlusive vascular disease - HP:0005296
Premature occlusive vascular stenosis - HP:0005297
obsolete Atrioventricular canal defect with right ventricle aorta and pulmonary atresia - HP:0005298
obsolete Premature peripheral vascular disease - HP:0005299
Nodular inflammatory vasculitis - HP:0005300
Persistent left superior vena cava - HP:0005301
Carotid artery tortuosity - HP:0005302
Aortic arch calcification - HP:0005303
Hypoplastic pulmonary veins - HP:0005304
Cerebral venous thrombosis - HP:0005305
Capillary hemangioma - HP:0005306
Postural hypotension with compensatory tachycardia - HP:0005307
Pulmonary artery vasoconstriction - HP:0005308
obsolete Peripheral vascular insufficiency - HP:0005309
Large vessel vasculitis - HP:0005310
Agenesis of pulmonary vessels - HP:0005311
Pulmonary aterial intimal fibrosis - HP:0005312
Arterial fibromuscular dysplasia - HP:0005313
Anomalous branches of internal carotid artery - HP:0005314
obsolete Peripheral artery occlusive disease - HP:0005315
Peripheral pulmonary vessel aplasia - HP:0005316
Increased pulmonary vascular resistance - HP:0005317
Cerebral vasculitis - HP:0005318
Lack of facial subcutaneous fat - HP:0005320
Mandibulofacial dysostosis - HP:0005321
Prominent nasal septum - HP:0005322
Hemifacial hypertrophy - HP:0005323
Disturbance of facial expression - HP:0005324
Extension of hair growth on temples to lateral eyebrow - HP:0005325
Hypoplastic philtrum - HP:0005326
Loss of facial expression - HP:0005327
Progeroid facial appearance - HP:0005328
Fixed facial expression - HP:0005329
Recurrent mandibular subluxations - HP:0005332
Sleepy facial expression - HP:0005335
Forehead hyperpigmentation - HP:0005336
Sparse lateral eyebrow - HP:0005338
Abnormality of complement system - HP:0005339
Spastic/hyperactive bladder - HP:0005340
Autonomic bladder dysfunction - HP:0005341
Hypoplasia of the bladder - HP:0005343
Abnormal carotid artery morphology - HP:0005344
Abnormal vena cava morphology - HP:0005345
Abnormal facial expression - HP:0005346
Cartilaginous trachea - HP:0005347
Inspiratory stridor - HP:0005348
Hypoplasia of the epiglottis - HP:0005349
Severe T-cell immunodeficiency - HP:0005352
Recurrent herpes - HP:0005353
Lack of T cell function - HP:0005354
Decreased serum complement factor I - HP:0005356
Defective B cell differentiation - HP:0005357
Aplasia of the thymus - HP:0005359
Susceptibility to chickenpox - HP:0005360
Humoral immunodeficiency - HP:0005363
obsolete Severe viral infections - HP:0005364
Severe B lymphocytopenia - HP:0005365
Recurrent streptococcus pneumoniae infections - HP:0005366
Abnormality of humoral immunity - HP:0005368
Decreased serum complement factor H - HP:0005369
Abnormality of B cell physiology - HP:0005372
Cellular immunodeficiency - HP:0005374
obsolete Partial cellular immunodeficiency - HP:0005375
Recurrent Haemophilus influenzae infections - HP:0005376
obsolete Severe T lymphocytopenia - HP:0005379
Recurrent meningococcal disease - HP:0005381
Defective B cell activation - HP:0005384
Recurrent protozoan infections - HP:0005386
Combined immunodeficiency - HP:0005387
Depletion of components of the alternative complement pathway - HP:0005389
Recurrent opportunistic infections - HP:0005390
Susceptibility to coronavirus 229e - HP:0005396
obsolete Exaggerated cellular immune processes - HP:0005397
Reduction of neutrophil motility - HP:0005400
Recurrent candida infections - HP:0005401
obsolete Primary T-lymphocyte immune abnormalities - HP:0005402
Decrease in T cell count - HP:0005403
Increased B cell count - HP:0005404
Recurrent bacterial skin infections - HP:0005406
Decreased proportion of CD4-positive T cells - HP:0005407
obsolete Markedly reduced T cell function - HP:0005409
Chronic intestinal candidiasis - HP:0005411
Increased alpha-globulin - HP:0005413
Decreased proportion of CD8-positive T cells - HP:0005415
Decreased serum complement factor B - HP:0005416
Decreased T cell activation - HP:0005419
Recurrent gram-negative bacterial infections - HP:0005420
Decreased serum complement C3 - HP:0005421
Absence of CD8-positive T cells - HP:0005422
Dysfunctional alternative complement pathway - HP:0005423
Absent specific antibody response - HP:0005424
Recurrent sinopulmonary infections - HP:0005425
Severe recurrent varicella - HP:0005428
Recurrent systemic pyogenic infections - HP:0005429
Recurrent Neisserial infections - HP:0005430
Transient hypogammaglobulinemia of infancy - HP:0005432
Impaired T cell function - HP:0005435
Recurrent infections in infancy and early childhood - HP:0005437
Maxillozygomatic hypoplasia - HP:0005439
Sclerotic cranial sutures - HP:0005441
Widely patent coronal suture - HP:0005442
Widened posterior fossa - HP:0005445
Obtuse angle of mandible - HP:0005446
Bridged sella turcica - HP:0005449
Calvarial osteosclerosis - HP:0005450
Decreased cranial base ossification - HP:0005451
Absent/hypoplastic paranasal sinuses - HP:0005453
Absent ethmoidal sinuses - HP:0005456
Premature closure of fontanelles - HP:0005458
Craniofacial disproportion - HP:0005461
Calcification of falx cerebri - HP:0005462
Elongated sella turcica - HP:0005463
Craniofacial osteosclerosis - HP:0005464
Facial hyperostosis - HP:0005465
Hypoplasia of the frontal bone - HP:0005466
Flat occiput - HP:0005469
Orbital craniosynostosis - HP:0005472
Fusion of middle ear ossicles - HP:0005473
Decreased calvarial ossification - HP:0005474
Widely patent sagittal suture - HP:0005476
Progressive sclerosis of skull base - HP:0005477
Prominent frontal sinuses - HP:0005478
Decreased circulating total IgE - HP:0005479
Abnormality of the alternative complement pathway - HP:0005482
Abnormal epiglottis morphology - HP:0005483
Postnatal microcephaly - HP:0005484
Small fontanelle - HP:0005486
Prominent metopic ridge - HP:0005487
Postnatal macrocephaly - HP:0005490
Premature posterior fontanelle closure - HP:0005494
Metopic suture patent to nasal root - HP:0005495
Midline skin dimples over anterior/posterior fontanelles - HP:0005498
Increased red cell osmotic fragility - HP:0005502
Refractory anemia - HP:0005505
Chronic myelogenous leukemia - HP:0005506
Hemoglobin Barts - HP:0005507
Monoclonal immunoglobulin M proteinemia - HP:0005508
Transient erythroblastopenia - HP:0005510
Heinz body anemia - HP:0005511
Impaired neutrophil killing of staphylococci - HP:0005512
Increased megakaryocyte count - HP:0005513
T-cell lymphoma/leukemia - HP:0005517
Increased mean corpuscular volume - HP:0005518
Chronic disseminated intravascular coagulation - HP:0005520
Disseminated intravascular coagulation - HP:0005521
Pyridoxine-responsive sideroblastic anemia - HP:0005522
Lymphoproliferative disorder - HP:0005523
Macrocytic hemolytic disease - HP:0005524
Spontaneous hemolytic crises - HP:0005525
Lymphoid leukemia - HP:0005526
Reduced kininogen activity - HP:0005527
Bone marrow hypocellularity - HP:0005528
Biphenotypic acute leukemia - HP:0005531
Macrocytic dyserythropoietic anemia - HP:0005532
Transient myeloproliferative syndrome - HP:0005534
Exercise-induced hemolysis - HP:0005535
Decreased mean platelet volume - HP:0005537
T cell chronic lymphocytic lymphoma/leukemia - HP:0005539
Red blood cell keratocytosis - HP:0005540
Congenital agranulocytosis - HP:0005541
Prolonged whole-blood clotting time - HP:0005542
Reduced protein C activity - HP:0005543
Increased red cell osmotic resistance - HP:0005546
Myeloproliferative disorder - HP:0005547
Megakaryocytopenia - HP:0005548
obsolete Congenital neutropenia - HP:0005549
Chronic lymphatic leukemia - HP:0005550
Abnormality of the metopic suture - HP:0005556
Abnormality of the zygomatic arch - HP:0005557
Chronic leukemia - HP:0005558
Abnormality of the kinin-kallikrein system - HP:0005559
Imbalanced hemoglobin synthesis - HP:0005560
Abnormality of bone marrow cell morphology - HP:0005561
Multiple renal cysts - HP:0005562
Decreased numbers of nephrons - HP:0005563
Absence of renal corticomedullary differentiation - HP:0005564
Reduced renal corticomedullary differentiation - HP:0005565
Renal magnesium wasting - HP:0005567
Increased renal tubular phosphate reabsorption - HP:0005571
Decreased renal tubular phosphate excretion - HP:0005572
Non-acidotic proximal tubulopathy - HP:0005574
Hemolytic-uremic syndrome - HP:0005575
Tubulointerstitial fibrosis - HP:0005576
Impaired reabsorption of chloride - HP:0005579
Duplication of renal pelvis - HP:0005580
Tubular basement membrane disintegration - HP:0005583
Renal cell carcinoma - HP:0005584
Spotty hyperpigmentation - HP:0005585
Hyperpigmentation in sun-exposed areas - HP:0005586
Profuse pigmented skin lesions - HP:0005587
Patchy palmoplantar keratoderma - HP:0005588
Spotty hypopigmentation - HP:0005590
Giant melanosomes in melanocytes - HP:0005592
Macular hypopigmented whorls, streaks, and patches - HP:0005593
Generalized hyperkeratosis - HP:0005595
Congenital alopecia totalis - HP:0005597
Facial telangiectasia in butterfly midface distribution - HP:0005598
Hypopigmentation of hair - HP:0005599
Congenital giant melanocytic nevus - HP:0005600
Progressive vitiligo - HP:0005602
Numerous congenital melanocytic nevi - HP:0005603
Large cafe-au-lait macules with irregular margins - HP:0005605
Hyperpigmented nevi and streak - HP:0005606
Abnormal tracheobronchial morphology - HP:0005607
Bilobate gallbladder - HP:0005608
Gallbladder dysfunction - HP:0005609
Arthrogryposis-like hand anomaly - HP:0005612
Aplasia/hypoplasia of the femur - HP:0005613
Accelerated skeletal maturation - HP:0005616
Bilateral camptodactyly - HP:0005617
Thoracolumbar kyphosis - HP:0005619
Hypermobility of interphalangeal joints - HP:0005620
Trapezoidal shaped vertebral bodies - HP:0005621
Broad long bones - HP:0005622
Absent ossification of calvaria - HP:0005623
Osteoporosis of vertebrae - HP:0005625
Posterior fusion of lumbosacral vertebrae - HP:0005626
Type D brachydactyly - HP:0005627
Absent forearm - HP:0005632
Decreased anterioposterior diameter of lumbar vertebral bodies - HP:0005638
Hyperextensible hand joints - HP:0005639
Abnormal vertebral segmentation and fusion - HP:0005640
Short 3rd toe - HP:0005643
Intervertebral disk calcification - HP:0005645
Bilateral ulnar hypoplasia - HP:0005648
Cutaneous syndactyly between fingers 2 and 5 - HP:0005650
Cortical sclerosis - HP:0005652
Moderate generalized osteoporosis - HP:0005653
Multiple digital exostoses - HP:0005655
Positional foot deformity - HP:0005656
Thoracic kyphoscoliosis - HP:0005659
Salmonella osteomyelitis - HP:0005661
Massively thickened long bone cortices - HP:0005665
Os odontoideum - HP:0005667
Bilateral intracranial calcifications - HP:0005671
Rudimentary postaxial polydactyly of hands - HP:0005676
Anterior atlanto-occipital dislocation - HP:0005678
Dupuytren contracture - HP:0005679
Tongue-like lumbar vertebral deformities - HP:0005680
Juvenile rheumatoid arthritis - HP:0005681
Talocalcaneal synostosis - HP:0005682
Distal arthrogryposis - HP:0005684
Patchy osteosclerosis - HP:0005686
Deformed humeral heads - HP:0005687
Dysplastic distal thumb phalanges with a central hole - HP:0005688
Dermatoglyphic ridges abnormal - HP:0005689
Joint hyperflexibility - HP:0005692
Partial fusion of proximal row of carpal bones - HP:0005694
Postaxial polydactyly type A - HP:0005696
Increased bone density with cystic changes - HP:0005700
Multiple enchondromatosis - HP:0005701
Bilateral triphalangeal thumbs - HP:0005707
2-3 toe cutaneous syndactyly - HP:0005709
Flattened knee epiphyses - HP:0005715
Lethal skeletal dysplasia - HP:0005716
Shortening of all metacarpals - HP:0005720
Hyperextensible thumb - HP:0005722
Shoe-shaped sella turcica - HP:0005723
Nonopposable triphalangeal thumb - HP:0005725
Thumbs hypoplastic with bulbous tips - HP:0005726
Cortical irregularity - HP:0005731
Spinal stenosis with reduced interpedicular distance - HP:0005733
Short tibia - HP:0005736
Posterior subluxation of radial head - HP:0005739
Avascular necrosis of the capital femoral epiphysis - HP:0005743
obsolete Generalized osteoporosis with pathologic fractures - HP:0005744
Congenital foot contractures - HP:0005745
Osteosclerosis of the base of the skull - HP:0005746
Easily subluxated first metacarpophalangeal joints - HP:0005747
Contractures of the joints of the lower limbs - HP:0005750
Flattened moderately deformed vertebrae - HP:0005752
Neonatal epiphyseal stippling - HP:0005756
Basilar impression - HP:0005758
Small flat posterior fossa - HP:0005759
Polyarticular arthritis - HP:0005764
Sacral meningocele - HP:0005765
Disproportionate shortening of the tibia - HP:0005766
1-2 toe complete cutaneous syndactyly - HP:0005767
2-4 toe cutaneous syndactyly - HP:0005768
Fifth finger distal phalanx clinodactyly - HP:0005769
Aplasia/Hypoplasia of the tibia - HP:0005772
Short forearm - HP:0005773
Multiple skeletal anomalies - HP:0005775
Carpal bone malsegmentation - HP:0005776
Absent fourth finger distal interphalangeal crease - HP:0005780
Contractures of the large joints - HP:0005781
Lumbar platyspondyly - HP:0005787
Abnormal cervical myelogram - HP:0005788
Generalized osteosclerosis - HP:0005789
Short mandibular condyles - HP:0005790
Cortical thickening of long bone diaphyses - HP:0005791
Short humerus - HP:0005792
Shortening of all distal phalanges of the toes - HP:0005793
obsolete Arterial disease of legs - HP:0005794
Posterior radial head dislocation - HP:0005798
Coalescence of tarsal bones - HP:0005802
Absent distal phalanges - HP:0005807
Supernumerary ribs - HP:0005815
Postaxial polysyndactyly of foot - HP:0005817
Short middle phalanx of finger - HP:0005819
Superior rib anomalies - HP:0005820
Clinodactyly of the 2nd toe - HP:0005824
Mixed sclerosis of humeral metaphyses - HP:0005825
Transient pulmonary infiltrates - HP:0005828
Maldevelopment of radioulnar joint - HP:0005829
Flexion contracture of toe - HP:0005830
Type B brachydactyly - HP:0005831
Dysharmonic delayed bone age - HP:0005832
obsolete Joint swelling onset late infancy - HP:0005833
obsolete Thumbs hypo/aplastic - HP:0005834
obsolete Joint dislocations in young adult - HP:0005837
Calcific stippling of infantile cartilaginous skeleton - HP:0005841
Rounded middle phalanx of finger - HP:0005844
obsolete Bifid thumb distal phalanx - HP:0005848
Diffuse cerebral calcification - HP:0005849
Congenital talipes calcaneovalgus - HP:0005850
Limited elbow extension and supination - HP:0005852
Congenital foot contraction deformities - HP:0005853
Multiple prenatal fractures - HP:0005855
Ulnar radial head dislocation - HP:0005856
Cervical spina bifida - HP:0005857
Type E brachydactyly - HP:0005863
Pseudoarthrosis - HP:0005864
Opposable triphalangeal thumb - HP:0005866
Fused fourth and fifth metacarpals - HP:0005867
Metaphyseal enchondromatosis - HP:0005868
Metaphyseal chondrodysplasia - HP:0005871
Brachytelomesophalangy - HP:0005872
Polysyndactyly of hallux - HP:0005873
Increased dermatoglyphic whorls - HP:0005875
Progressive flexion contractures - HP:0005876
Multiple small vertebral fractures - HP:0005877
Enlarged sagittal diameter of the cervical canal - HP:0005878
Congenital finger flexion contractures - HP:0005879
Metacarpophalangeal synostosis - HP:0005880
Spinal instability - HP:0005881
Dermatoglyphic variants - HP:0005882
Absent ossification of cervical vertebral bodies - HP:0005885
Aphalangy of the hands - HP:0005886
Hyperostosis cranialis interna - HP:0005890
Progressive forearm bowing - HP:0005891
Proximal tibial and fibular fusion - HP:0005892
Double first metacarpals - HP:0005894
Radial deviation of thumb terminal phalanx - HP:0005895
Severe generalized osteoporosis - HP:0005897
Metaphyseal dysostosis - HP:0005899
Fifth metacarpal with ulnar notch - HP:0005900
obsolete Chronic recurrent multifocal osteomyelitis - HP:0005901
Abnormal cervical curvature - HP:0005905
Delayed pneumatization of the mastoid process - HP:0005906
Rhomboid or triangular shaped 5th finger middle phalanx - HP:0005910
Biliary atresia - HP:0005912
Abnormality of metacarpal epiphyses - HP:0005913
Aplasia/Hypoplasia involving the metacarpal bones - HP:0005914
Abnormal metacarpal morphology - HP:0005916
Supernumerary metacarpal bones - HP:0005917
Abnormal finger phalanx morphology - HP:0005918
Abnormal epiphysis morphology of the phalanges of the hand - HP:0005920
obsolete Abnormal ossification of hand bones - HP:0005921
Abnormal hand morphology - HP:0005922
Abnormalities of the metaphyses of the hand - HP:0005923
Abnormality of the epiphyses of the hand - HP:0005924
Abnormalities of the diaphyses of the hand - HP:0005925
Abnormality of hand cortical bone - HP:0005926
Aplasia/hypoplasia involving bones of the hand - HP:0005927
Synostosis involving the fibula - HP:0005928
Synostosis involving the tibia - HP:0005929
Abnormality of epiphysis morphology - HP:0005930
Abnormal renal corticomedullary differentiation - HP:0005932
Imperfect vocal cord adduction - HP:0005934
Abnormal respiratory motile cilium morphology - HP:0005938
Multiple bilateral pneumothoraces - HP:0005939
Intermittent hyperpnea at rest - HP:0005941
Desquamative interstitial pneumonitis - HP:0005942
Respiratory arrest - HP:0005943
Bilateral lung agenesis - HP:0005944
Laryngeal obstruction - HP:0005945
Ventilator dependence with inability to wean - HP:0005946
Decreased sensitivity to hypoxemia - HP:0005947
Multiple pulmonary cysts - HP:0005948
Apneic episodes in infancy - HP:0005949
Laryngeal web - HP:0005950
Progressive inspiratory stridor - HP:0005951
Decreased pulmonary function - HP:0005952
Pulmonary capillary hemangiomatosis - HP:0005954
Anteroposteriorly shortened larynx - HP:0005956
Breathing dysregulation - HP:0005957
Impaired gluconeogenesis - HP:0005959
Hypoargininemia - HP:0005961
Intermittent hypothermia - HP:0005964
Mixed respiratory and metabolic acidosis - HP:0005967
Temperature instability - HP:0005968
Respiratory acidosis - HP:0005972
Fructose intolerance - HP:0005973
Episodic ketoacidosis - HP:0005974
Hyperkalemic metabolic acidosis - HP:0005976
Hypochloremic metabolic alkalosis - HP:0005977
Type II diabetes mellitus - HP:0005978
Metabolic ketoacidosis - HP:0005979
Reduced phenylalanine hydroxylase activity - HP:0005982
Elevated maternal serum alpha-fetoprotein - HP:0005984
Limitation of neck motion - HP:0005986
Multinodular goiter - HP:0005987
Congenital muscular torticollis - HP:0005988
Redundant neck skin - HP:0005989
Thyroid hypoplasia - HP:0005990
Limited neck flexion - HP:0005991
Nodular goiter - HP:0005994
Decreased adipose tissue around neck - HP:0005995
Restricted neck movement due to contractures - HP:0005997
Ureteral atresia - HP:0005999
Ureteral obstruction - HP:0006000
Hypotrophy of the small hand muscles - HP:0006006
Unilateral brachydactyly - HP:0006008
Broad phalanx - HP:0006009
Cuboidal metacarpal - HP:0006011
Widened metacarpal shaft - HP:0006012
Abnormally shaped carpal bones - HP:0006014
Delayed phalangeal epiphyseal ossification - HP:0006016
Reduced proximal interphalangeal joint space - HP:0006019
Rounded epiphyses - HP:0006026
Metaphyseal cupping of metacarpals - HP:0006028
Cone-shaped epiphyses of phalanges 2 to 5 - HP:0006035
Long second metacarpal - HP:0006040
Y-shaped metacarpals - HP:0006042
Short pointed phalanges - HP:0006045
Distal widening of metacarpals - HP:0006048
Metacarpal periosteal thickening - HP:0006051
Ulnar deviated club hands - HP:0006055
Cone-shaped metacarpal epiphyses - HP:0006059
Tombstone-shaped proximal phalanges - HP:0006060
Limited interphalangeal movement - HP:0006064
Multiple carpal ossification centers - HP:0006067
Severe carpal ossification delay - HP:0006069
Metacarpophalangeal joint contracture - HP:0006070
Absent proximal finger flexion creases - HP:0006077
Thin metacarpal cortices - HP:0006086
1-5 finger complete cutaneous syndactyly - HP:0006088
Palmar hyperhidrosis - HP:0006089
Malaligned carpal bone - HP:0006092
Finger joint hypermobility - HP:0006094
Wide tufts of distal phalanges - HP:0006095
3-4 finger syndactyly - HP:0006097
Metacarpophalangeal joint hyperextensibility - HP:0006099
Finger syndactyly - HP:0006101
Absent trapezoid bone - HP:0006106
Fingerpad telangiectases - HP:0006107
Tapered metacarpals - HP:0006108
Absent phalangeal crease - HP:0006109
Shortening of all middle phalanges of the fingers - HP:0006110
Expanded phalanges with widened medullary cavities - HP:0006112
Multiple palmar creases - HP:0006114
Shortening of all distal phalanges of the fingers - HP:0006118
Proximal tapering of metacarpals - HP:0006119
Acral ulceration - HP:0006121
Long proximal phalanx of finger - HP:0006127
Drumstick terminal phalanges - HP:0006129
Enlarged metacarpal epiphyses - HP:0006134
Decreased finger mobility - HP:0006135
Bilateral postaxial polydactyly - HP:0006136
Premature fusion of phalangeal epiphyses - HP:0006140
Abnormal finger flexion creases - HP:0006143
Shortening of all proximal phalanges of the fingers - HP:0006144
Central Y-shaped metacarpal - HP:0006145
Broad metacarpal epiphyses - HP:0006146
Progressive fusion 2nd-5th pip joints - HP:0006147
Increased laxity of fingers - HP:0006149
Swan neck-like deformities of the fingers - HP:0006150
Proximal symphalangism of hands - HP:0006152
Disharmonious carpal bone - HP:0006153
Long phalanx of finger - HP:0006155
Ulnar deviation of thumb - HP:0006156
Prominent palmar flexion creases - HP:0006157
obsolete Finger joint hyperextensibility - HP:0006158
Mesoaxial hand polydactyly - HP:0006159
Irregular metacarpals - HP:0006160
Short metacarpals with rounded proximal ends - HP:0006161
Soft tissue swelling of interphalangeal joints - HP:0006162
Enlarged metacarpophalangeal joints - HP:0006163
Proportionate shortening of all digits - HP:0006165
Tubular metacarpal bones - HP:0006166
Prominent proximal interphalangeal joints - HP:0006167
Decreased mobility 3rd-5th fingers - HP:0006169
Chess-pawn distal phalanges - HP:0006170
Flattened, squared-off epiphyses of tubular bones - HP:0006172
Metacarpal diaphyseal endosteal sclerosis - HP:0006174
Proximal phalangeal periosteal thickening - HP:0006175
Two carpal ossification centers present at birth - HP:0006176
Pseudoepiphyses of second metacarpal - HP:0006179
Crowded carpal bones - HP:0006180
Decreased palmar creases - HP:0006184
Enlarged proximal interphalangeal joints - HP:0006185
Fusion of midphalangeal joints - HP:0006187
Prominent interdigital folds - HP:0006189
Radially deviated wrists - HP:0006190
Deep palmar crease - HP:0006191
Tapered phalanx of finger - HP:0006192
Thimble-shaped middle phalanges of hand - HP:0006193
Widened distal phalanges - HP:0006200
Hypermobility of distal interphalangeal joints - HP:0006201
Osteolysis of scaphoids - HP:0006202
Decreased movement range in interphalangeal joints - HP:0006203
Irregular phalanges - HP:0006205
Hypersegmentation of proximal phalanx of second finger - HP:0006206
Partial fusion of carpals - HP:0006207
Metaphyseal cupping of proximal phalanges - HP:0006208
Partial-complete absence of 5th phalanges - HP:0006209
Postaxial oligodactyly - HP:0006210
Thin proximal phalanges with broad epiphyses of the hand - HP:0006213
Single interphalangeal crease of fifth finger - HP:0006216
Limited mobility of proximal interphalangeal joint - HP:0006217
Tapering pointed ends of distal finger phalanges - HP:0006224
Osteoarthritis of the first carpometacarpal joint - HP:0006226
Valgus hand deformity - HP:0006228
Unilateral oligodactyly - HP:0006230
Expanded metacarpals with widened medullary cavities - HP:0006232
Osteoarthritis of the distal interphalangeal joint - HP:0006233
Osteolysis involving tarsal bones - HP:0006234
Slender metacarpals - HP:0006236
Prominent interphalangeal joints - HP:0006237
Shortening of all middle phalanges of the toes - HP:0006239
Phalangeal dislocation - HP:0006243
Enlarged interphalangeal joints - HP:0006247
Limited wrist movement - HP:0006248
Limited wrist extension - HP:0006251
Interphalangeal joint erosions - HP:0006252
Swelling of proximal interphalangeal joints - HP:0006253
Elevated alpha-fetoprotein - HP:0006254
Abnormality of hand joint mobility - HP:0006256
Abnormality of carpal bone ossification - HP:0006257
Abnormal phalangeal joint morphology of the hand - HP:0006261
Aplasia/Hypoplasia of the 5th finger - HP:0006262
Abnormality of the epiphyses of the 2nd finger - HP:0006263
Aplasia/Hypoplasia of the 2nd finger - HP:0006264
Aplasia/Hypoplasia of fingers - HP:0006265
Small placenta - HP:0006266
Large placenta - HP:0006267
Fluctuating splenomegaly - HP:0006268
Hypoplastic spleen - HP:0006270
Pancreatic lymphangiectasis - HP:0006273
Reduced pancreatic beta cells - HP:0006274
Hyperechogenic pancreas - HP:0006276
Pancreatic hyperplasia - HP:0006277
Ectopic pancreatic tissue - HP:0006278
Beta-cell dysfunction - HP:0006279
Chronic pancreatitis - HP:0006280
Generalized hypoplasia of dental enamel - HP:0006282
Multiple unerupted teeth - HP:0006283
Hypomineralization of enamel - HP:0006285
Yellow-brown discoloration of the teeth - HP:0006286
Advanced eruption of teeth - HP:0006288
Agenesis of central incisor - HP:0006289
Discolored lateral incisors - HP:0006290
Marked delay in eruption of permanent teeth - HP:0006291
Abnormality of dental eruption - HP:0006292
Agenesis of maxillary central incisor - HP:0006293
Hypoplasia of dental enamel - HP:0006297
Prolonged bleeding after dental extraction - HP:0006298
Dagger-shaped pulp calcifications - HP:0006302
Widely-spaced incisors - HP:0006304
Atrophy of alveolar ridges - HP:0006308
Generalized microdontia - HP:0006311
Widely spaced primary teeth - HP:0006313
Single median maxillary incisor - HP:0006315
Irregularly spaced teeth - HP:0006316
Multiple non-erupting secondary teeth - HP:0006321
Premature loss of primary teeth - HP:0006323
Buried teeth encased in mucopolysaccharide - HP:0006326
Alveolar process hypoplasia - HP:0006329
Rotated maxillary central incisors - HP:0006330
Supernumerary maxillary incisor - HP:0006332
Crowded maxillary incisors - HP:0006333
Hypoplasia of the primary teeth - HP:0006334
Persistence of primary teeth - HP:0006335
Short dental roots - HP:0006336
Premature eruption of permanent teeth - HP:0006337
Malformation of mandibular premolar - HP:0006338
Conical mandibular incisor - HP:0006339
Peg-shaped maxillary lateral incisors - HP:0006342
Abnormality of primary molar morphology - HP:0006344
Screwdriver-shaped incisors - HP:0006346
Microdontia of primary teeth - HP:0006347
Agenesis of permanent teeth - HP:0006349
Obliteration of the pulp chamber - HP:0006350
Failure of eruption of permanent teeth - HP:0006352
Hypoplasia of the tooth germ - HP:0006353
Agenesis of mandibular central incisor - HP:0006355
Premature loss of permanent teeth - HP:0006357
Shovel-shaped maxillary central incisors - HP:0006358
Irregular femoral epiphysis - HP:0006361
Varus deformity of humeral neck - HP:0006362
Adductor longus contractures - HP:0006366
Crumpled long bones - HP:0006367
Forearm reduction defects - HP:0006368
Irregular patellae - HP:0006369
Distal ulnar epiphyseal stippling - HP:0006370
Broad long bone diaphyses - HP:0006371
Dumbbell-shaped femur - HP:0006375
Limited elbow flexion - HP:0006376
Osteolysis of patellae - HP:0006378
Proximal tibial hypoplasia - HP:0006379
Knee flexion contracture - HP:0006380
Rudimentary fibula - HP:0006381
Progressive bowing of long bones - HP:0006383
Club-shaped distal femur - HP:0006384
Short lower limbs - HP:0006385
Hypoplastic distal radial epiphyses - HP:0006386
Wide distal femoral metaphysis - HP:0006387
Limited knee flexion - HP:0006389
Anterior tibial bowing - HP:0006390
Overtubulated long bones - HP:0006391
Increased density of long bones - HP:0006392
Limited pronation/supination of forearm - HP:0006394
Lateral displacement of patellae - HP:0006397
Flat distal femoral epiphysis - HP:0006398
Absent knee epiphyses - HP:0006400
Distal shortening of limbs - HP:0006402
Club-shaped proximal femur - HP:0006406
Irregular distal femoral epiphysis - HP:0006407
Distal tapering femur - HP:0006408
Progressive leg bowing - HP:0006409
Broad tibial metaphyses - HP:0006413
Distal tibial bowing - HP:0006414
Cortically dense long tubular bones - HP:0006415
Broad femoral metaphyses - HP:0006417
Asymmetric radial dysplasia - HP:0006420
Peg-like central prominence of distal tibial metaphyses - HP:0006423
Elongated radius - HP:0006424
Rudimentary to absent tibiae - HP:0006426
Broad femoral neck - HP:0006429
Proximal femoral metaphyseal abnormality - HP:0006431
Trapezoidal distal femoral condyles - HP:0006432
Radial dysplasia - HP:0006433
Hypoplasia of proximal radius - HP:0006434
obsolete Shortening of the tibia - HP:0006436
Disproportionate prominence of the femoral medial condyle - HP:0006437
Enlargement of the distal femoral epiphysis - HP:0006438
Radioulnar dislocation - HP:0006439
Increased density of long bone diaphyses - HP:0006440
Lateral humeral condyle aplasia - HP:0006441
Hypoplasia of proximal fibula - HP:0006442
Patellar aplasia - HP:0006443
Dysplastic patella - HP:0006446
Distal radial epiphyseal osteolysis - HP:0006449
Multicentric ossification of proximal femoral epiphyses - HP:0006450
Lateral displacement of the femoral head - HP:0006453
Delayed patellar ossification - HP:0006454
Irregular proximal tibial epiphyses - HP:0006456
Dorsal subluxation of ulna - HP:0006459
Increased laxity of ankles - HP:0006460
Proximal femoral epiphysiolysis - HP:0006461
Generalized bone demineralization - HP:0006462
Rickets of the lower limbs - HP:0006463
Periosteal thickening of long tubular bones - HP:0006465
Ankle flexion contracture - HP:0006466
Limited shoulder movement - HP:0006467
Thin long bone diaphyses - HP:0006470
Fixed elbow flexion - HP:0006471
Anterior bowing of long bones - HP:0006473
Abnormality of the pancreatic islet cells - HP:0006476
Abnormality of the alveolar ridges - HP:0006477
Abnormality of the dental pulp - HP:0006479
Premature loss of teeth - HP:0006480
Abnormality of primary teeth - HP:0006481
Abnormality of dental morphology - HP:0006482
Abnormal number of teeth - HP:0006483
Agenesis of incisor - HP:0006485
Abnormality of the dental root - HP:0006486
Bowing of the long bones - HP:0006487
Bowing of the arm - HP:0006488
Abnormality of the femoral metaphysis - HP:0006489
Abnormality of lower-limb metaphyses - HP:0006490
Abnormality of the tibial metaphysis - HP:0006491
Aplasia/Hypoplasia of the fibula - HP:0006492
Aplasia/hypoplasia involving bones of the lower limbs - HP:0006493
Aplasia/Hypoplasia involving bones of the feet - HP:0006494
Aplasia/Hypoplasia of the ulna - HP:0006495
Aplasia/hypoplasia involving bones of the upper limbs - HP:0006496
Aplasia/Hypoplasia of the patella - HP:0006498
Abnormality of femoral epiphysis - HP:0006499
Abnormality of lower limb epiphysis morphology - HP:0006500
Aplasia/Hypoplasia of the radius - HP:0006501
Aplasia/Hypoplasia involving the carpal bones - HP:0006502
Aplasia/hypoplasia involving forearm bones - HP:0006503
obsolete Anomaly of the limb diaphyses morphology - HP:0006504
Abnormality of limb epiphysis morphology - HP:0006505
Aplasia/hypoplasia of the humerus - HP:0006507
Abnormality of tibial epiphyses - HP:0006508
Diverticulosis of trachea - HP:0006509
Chronic obstructive pulmonary disease - HP:0006510
Laryngeal stridor - HP:0006511
Intraalveolar nodular calcifications - HP:0006514
Interstitial pneumonitis - HP:0006515
Hypersensitivity pneumonitis - HP:0006516
Alveolar proteinosis - HP:0006517
Pulmonary venous occlusion - HP:0006518
Alveolar cell carcinoma - HP:0006519
Progressive pulmonary function impairment - HP:0006520
Pulmonary lymphangiectasia - HP:0006521
Repeated pneumothoraces - HP:0006522
Tracheobronchial leiomyomatosis - HP:0006524
obsolete Lung segmentation defects - HP:0006525
Lymphoid interstitial pneumonia - HP:0006527
Chronic lung disease - HP:0006528
Abnormal pulmonary lymphatics - HP:0006529
Interstitial pulmonary abnormality - HP:0006530
Pleural lymphangiectasia - HP:0006531
Recurrent pneumonia - HP:0006532
Bronchodysplasia - HP:0006533
Recurrent intrapulmonary hemorrhage - HP:0006535
Obstructive lung disease - HP:0006536
Recurrent bronchopulmonary infections - HP:0006538
Bronchial cartilage hypoplasia - HP:0006539
Chronic obstructive airway disease from birth - HP:0006541
Cardiorespiratory arrest - HP:0006543
Extrapulmonary sequestrum - HP:0006544
Pulmonary arteriovenous malformation - HP:0006548
Unilateral primary pulmonary dysgenesis - HP:0006549
Fibrocystic lung disease - HP:0006552
Acute hepatic failure - HP:0006554
Diffuse hepatic steatosis - HP:0006555
Polycystic liver disease - HP:0006557
Decreased mitochondrial complex III activity in liver tissue - HP:0006558
Hepatic calcification - HP:0006559
Biliary hyperplasia - HP:0006560
Lipid accumulation in hepatocytes - HP:0006561
Viral hepatitis - HP:0006562
Malformation of the hepatic ductal plate - HP:0006563
Fluctuating hepatomegaly - HP:0006564
Increased hepatocellular lipid droplets - HP:0006565
Neonatal cholestatic liver disease - HP:0006566
Increased hepatic glycogen content - HP:0006568
Reduced number of intrahepatic bile ducts - HP:0006571
Subacute progressive viral hepatitis - HP:0006572
Acute hepatic steatosis - HP:0006573
Hepatic arteriovenous malformation - HP:0006574
Intrahepatic cholestasis with episodic jaundice - HP:0006575
Hepatic vascular malformations - HP:0006576
Macronodular cirrhosis - HP:0006577
Prolonged neonatal jaundice - HP:0006579
Portal fibrosis - HP:0006580
Depletion of mitochondrial DNA in liver - HP:0006581
Reye syndrome-like episodes - HP:0006582
Fatal liver failure in infancy - HP:0006583
Small abnormally formed scapulae - HP:0006584
Congenital pseudoarthrosis of the clavicle - HP:0006585
Straight clavicles - HP:0006587
Flaring of lower rib cage - HP:0006589
Premature sternal synostosis - HP:0006590
Absent glenoid fossa - HP:0006591
Anomalous rib insertion to vertebrae - HP:0006593
Scapulohumeral synostosis - HP:0006595
Restricted chest movement - HP:0006596
Diaphragmatic paralysis - HP:0006597
Irregular ossification at anterior rib ends - HP:0006598
Medial widening of clavicles - HP:0006599
Progressive calcification of costochondral cartilage - HP:0006600
Flared, irregular rib ends - HP:0006603
Irregular chondrocostal junctions - HP:0006606
Precocious costochondral ossification - HP:0006607
Midclavicular hypoplasia - HP:0006608
Wide intermamillary distance - HP:0006610
Decreased number of sternal ossification centers - HP:0006611
Absent in utero rib ossification - HP:0006615
Anterior rib punctate calcifications - HP:0006619
Costochondral joint sclerosis - HP:0006623
Multifocal breast carcinoma - HP:0006625
Absent sternal ossification - HP:0006628
Hypoplastic distal segments of scapulae - HP:0006631
Glenoid fossa hypoplasia - HP:0006633
Osteosclerosis of ribs - HP:0006634
Sternal punctate calcifications - HP:0006637
Midclavicular aplasia - HP:0006638
Multiple rib fractures - HP:0006640
Prominent floating ribs - HP:0006641
Large sternal ossification centers - HP:0006642
Fused sternal ossification centers - HP:0006643
Thoracic dysplasia - HP:0006644
Thin clavicles - HP:0006645
Costal cartilage calcification - HP:0006646
Congenital microthorax - HP:0006647
Costochondral pain - HP:0006649
Thickening of the lateral border of the scapula - HP:0006650
Rib segmentation abnormalities - HP:0006655
Hypoplasia of first ribs - HP:0006657
Internally rotated shoulders - HP:0006659
Aplastic clavicle - HP:0006660
Coat hanger sign of ribs - HP:0006665
Twelfth rib hypoplasia - HP:0006668
Impaired myocardial contractility - HP:0006670
Paroxysmal atrial tachycardia - HP:0006671
Reduced systolic function - HP:0006673
Prolonged QRS complex - HP:0006677
Granulomatous coronary arteritis - HP:0006679
Absent atrioventricular node - HP:0006681
Ventricular extrasystoles - HP:0006682
Abnormal ventricular filling - HP:0006683
Ventricular preexcitation with multiple accessory pathways - HP:0006684
Endocardial fibrosis - HP:0006685
Aortic tortuosity - HP:0006687
Paroxysmal tachycardia - HP:0006688
Bacterial endocarditis - HP:0006689
Myocardial calcification - HP:0006690
Pulmonic valve myxoma - HP:0006691
Short chordae tendineae of the tricuspid valve - HP:0006692
Myocardial steatosis - HP:0006693
Early progressive calcific cardiac valvular disease - HP:0006694
Atrioventricular canal defect - HP:0006695
Polymorphic and polytopic ventricular extrasystoles - HP:0006696
Dilatation of the ventricular cavity - HP:0006698
Premature atrial contractions - HP:0006699
Coronary artery dissection - HP:0006702
Aplasia/Hypoplasia of the lungs - HP:0006703
Abnormal coronary artery morphology - HP:0006704
Abnormal atrioventricular valve morphology - HP:0006705
Cystic liver disease - HP:0006706
Abnormality of the hepatic vasculature - HP:0006707
Aplasia/Hypoplasia of the nipples - HP:0006709
Aplasia/Hypoplasia of the clavicles - HP:0006710
Aplasia/Hypoplasia involving bones of the thorax - HP:0006711
Aplasia/Hypoplasia of the ribs - HP:0006712
Aplasia/Hypoplasia of the scapulae - HP:0006713
Aplasia/Hypoplasia of the sternum - HP:0006714
Glomus tympanicum paraganglioma - HP:0006715
Hereditary nonpolyposis colorectal carcinoma - HP:0006716
Peripheral neuroepithelioma - HP:0006717
Benign gastrointestinal tract tumors - HP:0006719
Acute lymphoblastic leukemia - HP:0006721
Small intestine carcinoid - HP:0006722
Intestinal carcinoid - HP:0006723
Pancreatic adenocarcinoma - HP:0006725
T-cell acute lymphoblastic leukemias - HP:0006727
Retroperitoneal chemodectomas - HP:0006729
Follicular thyroid carcinoma - HP:0006731
Papillary renal cell carcinoma type 2 - HP:0006732
Acute megakaryocytic leukemia - HP:0006733
Renal cortical adenoma - HP:0006735
Extraadrenal pheochromocytoma - HP:0006737
Squamous cell carcinoma of the skin - HP:0006739
Transitional cell carcinoma of the bladder - HP:0006740
Congenital neuroblastoma - HP:0006742
Embryonal rhabdomyosarcoma - HP:0006743
Adrenocortical carcinoma - HP:0006744
Ganglioneuroblastoma - HP:0006747
Adrenal pheochromocytoma - HP:0006748
Malignant gastrointestinal tract tumors - HP:0006749
Paraspinal neurofibromas - HP:0006751
Neoplasm of the stomach - HP:0006753
Cutaneous leiomyosarcoma - HP:0006755
Diffuse leiomyomatosis - HP:0006756
Malignant genitourinary tract tumor - HP:0006758
Renal pelvic carcinoma - HP:0006762
Anal canal squamous carcinoma - HP:0006763
Chondrosarcoma - HP:0006765
Papillary renal cell carcinoma - HP:0006766
Pituitary prolactin cell adenoma - HP:0006767
Localized neuroblastoma - HP:0006768
Myxoid subcutaneous tumors - HP:0006769
Clear cell renal cell carcinoma - HP:0006770
Duodenal adenocarcinoma - HP:0006771
Renal angiomyolipoma - HP:0006772
Cutaneous angiolipomas - HP:0006773
Ovarian papillary adenocarcinoma - HP:0006774
Multiple myeloma - HP:0006775
Benign genitourinary tract neoplasm - HP:0006778
Alveolar rhabdomyosarcoma - HP:0006779
Parathyroid carcinoma - HP:0006780
Hurthle cell thyroid adenoma - HP:0006781
Malignant eosinophil proliferation - HP:0006782
Posterior pharyngeal cleft - HP:0006783
Paranasal sinus hypoplasia - HP:0006784
Limb-girdle muscular dystrophy - HP:0006785
Mitochondrial encephalopathy - HP:0006789
Cerebral cortex with spongiform changes - HP:0006790
Loss of ability to walk in first decade - HP:0006794
Basal ganglia cysts - HP:0006799
Hyperactive deep tendon reflexes - HP:0006801
Abnormal anterior horn cell morphology - HP:0006802
Vivid hallucinations - HP:0006803
Cerebral hypomyelination - HP:0006808
White mater abnormalities in the posterior periventricular region - HP:0006812
Focal hemiclonic seizure - HP:0006813
Aplasia/Hypoplasia of the cerebellar vermis - HP:0006817
4-layered lissencephaly - HP:0006818
Frontal polymicrogyria - HP:0006821
Cranial nerve paralysis - HP:0006824
Pallor of dorsal columns of the spinal cord - HP:0006825
Atrophy of the spinal cord - HP:0006827
Severe muscular hypotonia - HP:0006829
obsolete Severe neonatal hypotonia in males - HP:0006830
Developmental stagnation at onset of seizures - HP:0006834
Congenital Horner syndrome - HP:0006837
Absent patellar reflexes - HP:0006844
Acute encephalopathy - HP:0006846
Hypodysplasia of the corpus callosum - HP:0006849
Hypoplasia of the ventral pons - HP:0006850
Symmetric spinal nerve root neurofibromas - HP:0006851
Episodic generalized hypotonia - HP:0006852
Cerebellar vermis atrophy - HP:0006855
Impaired distal proprioception - HP:0006858
Posterior leukoencephalopathy - HP:0006859
Severe expressive language delay - HP:0006863
Sensorimotor polyneuropathy affecting arms more than legs - HP:0006865
Midline central nervous system lipomas - HP:0006866
Lobar holoprosencephaly - HP:0006870
Cerebral hypoplasia - HP:0006872
Symmetrical progressive peripheral demyelination - HP:0006873
obsolete Mental retardation, in some - HP:0006877
Pontocerebellar atrophy - HP:0006879
Cerebellar hemangioblastoma - HP:0006880
Diffuse peripheral demyelination - HP:0006881
Severe hydrocephalus - HP:0006882
Impaired distal vibration sensation - HP:0006886
Intellectual disability, progressive - HP:0006887
Meningoencephalocele - HP:0006888
Intellectual disability, borderline - HP:0006889
Thick cerebral cortex - HP:0006891
Frontotemporal cerebral atrophy - HP:0006892
Severely dysplastic cerebellum - HP:0006893
Hypoplastic olfactory lobes - HP:0006894
Lower limb hypertonia - HP:0006895
Hypnopompic hallucinations - HP:0006896
Cranial nerve VI palsy - HP:0006897
Fusion of the cerebellar hemispheres - HP:0006899
Impaired thermal sensitivity - HP:0006901
Congenital peripheral neuropathy - HP:0006903
Late-onset spinocerebellar degeneration - HP:0006904
Congenital intracerebral calcification - HP:0006906
Frontal cortical atrophy - HP:0006913
Inability to walk by childhood/adolescence - HP:0006915
Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material - HP:0006916
Diffuse cerebral sclerosis - HP:0006918
Abnormal aggressive, impulsive or violent behavior - HP:0006919
Axial muscle stiffness - HP:0006921
Metachromatic leukodystrophy variant - HP:0006926
Unilateral polymicrogyria - HP:0006927
Hypoglycemic encephalopathy - HP:0006929
Frontoparietal cortical dysplasia - HP:0006930
Lipoma of corpus callosum - HP:0006931
Transient psychotic episodes - HP:0006932
Congenital nystagmus - HP:0006934
Impaired distal tactile sensation - HP:0006937
Impaired vibration sensation at ankles - HP:0006938
Diffuse spongiform leukoencephalopathy - HP:0006943
Abolished vibration sense - HP:0006944
Recurrent meningitis - HP:0006946
Episodic peripheral neuropathy - HP:0006949
Retrocerebellar cyst - HP:0006951
Olivopontocerebellar hypoplasia - HP:0006955
Dilation of lateral ventricles - HP:0006956
Loss of ability to walk - HP:0006957
Abnormal auditory evoked potentials - HP:0006958
Proximal spinal muscular atrophy - HP:0006959
Choroid plexus calcification - HP:0006960
Jerky head movements - HP:0006961
Gait instability, worse in the dark - HP:0006962
Cerebral cortical neurodegeneration - HP:0006964
Acute necrotizing encephalopathy - HP:0006965
Periventricular leukomalacia - HP:0006970
Necrotizing encephalopathy - HP:0006976
Grammar-specific speech disorder - HP:0006977
Dysmyelinating leukodystrophy - HP:0006978
Sleep-wake cycle disturbance - HP:0006979
Progressive leukoencephalopathy - HP:0006980
Slowly progressive spastic quadriparesis - HP:0006983
Distal sensory loss of all modalities - HP:0006984
Upper limb spasticity - HP:0006986
Alobar holoprosencephaly - HP:0006988
Dysplastic corpus callosum - HP:0006989
Myelin-dependent gliosis - HP:0006990
Anterior basal encephalocele - HP:0006992
Diffuse leukoencephalopathy - HP:0006994
Basal ganglia gliosis - HP:0006999
Morning myoclonic jerks - HP:0007000
Loss of Purkinje cells in the cerebellar vermis - HP:0007001
Motor axonal neuropathy - HP:0007002
Dorsal column degeneration - HP:0007006
Cavitation of the basal ganglia - HP:0007007
Central nervous system degeneration - HP:0007009
Poor fine motor coordination - HP:0007010
Fourth cranial nerve palsy - HP:0007011
Poor gross motor coordination - HP:0007015
Corticospinal tract hypoplasia - HP:0007016
Progressive forgetfulness - HP:0007017
Attention deficit hyperactivity disorder - HP:0007018
Progressive spastic paraplegia - HP:0007020
Pain insensitivity - HP:0007021
Antenatal intracerebral hemorrhage - HP:0007023
Pseudobulbar paralysis - HP:0007024
Poorly formed metencephalon - HP:0007027
Cerebral berry aneurysm - HP:0007029
Nonprogressive encephalopathy - HP:0007030
Cerebellar dysplasia - HP:0007033
Generalized hyperreflexia - HP:0007034
Anterior encephalocele - HP:0007035
Hypoplasia of olfactory tract - HP:0007036
Symmetric lesions of the basal ganglia - HP:0007039
Chronic lymphocytic meningitis - HP:0007041
Focal white matter lesions - HP:0007042
Midline brain calcifications - HP:0007045
Atrophy of the dentate nucleus - HP:0007047
Large basal ganglia - HP:0007048
Multifocal cerebral white matter abnormalities - HP:0007052
Hyperreflexia proximally - HP:0007054
Poor hand-eye coordination - HP:0007057
Generalized cerebral atrophy/hypoplasia - HP:0007058
Aplasia of the inferior half of the cerebellar vermis - HP:0007063
Progressive language deterioration - HP:0007064
Disorganization of the anterior cerebellar vermis - HP:0007065
Proximal limb muscle stiffness - HP:0007066
Distal peripheral sensory neuropathy - HP:0007067
Inferior vermis hypoplasia - HP:0007068
Profound static encephalopathy - HP:0007069
Thick corpus callosum - HP:0007074
Extrapyramidal muscular rigidity - HP:0007076
Decreased amplitude of sensory action potentials - HP:0007078
Late-onset muscular dystrophy - HP:0007081
Dilated third ventricle - HP:0007082
Hyperactive patellar reflex - HP:0007083
Social and occupational deterioration - HP:0007086
obsolete Involuntary jerking movements - HP:0007087
Facial-lingual fasciculations - HP:0007089
Frontoparietal polymicrogyria - HP:0007095
Hypoplasia of the optic tract - HP:0007096
Cranial nerve motor loss - HP:0007097
Paroxysmal choreoathetosis - HP:0007098
Arnold-Chiari type I malformation - HP:0007099
Progressive ventriculomegaly - HP:0007100
Hypointensity of cerebral white matter on MRI - HP:0007103
Prolonged somatosensory evoked potentials - HP:0007104
Infantile encephalopathy - HP:0007105
Segmental peripheral demyelination - HP:0007107
Demyelinating peripheral neuropathy - HP:0007108
Periventricular cysts - HP:0007109
Central hypoventilation - HP:0007110
Chronic hepatic encephalopathy - HP:0007111
Temporal cortical atrophy - HP:0007112
Orbital encephalocele - HP:0007115
Corticospinal tract atrophy - HP:0007117
Subcortical dementia - HP:0007123
Proximal amyotrophy - HP:0007126
Cerebellar medulloblastoma - HP:0007129
Acute demyelinating polyneuropathy - HP:0007131
Pallidal degeneration - HP:0007132
Progressive peripheral neuropathy - HP:0007133
Sensorimotor neuropathy - HP:0007141
Bilateral basal ganglia lesions - HP:0007146
Distal upper limb amyotrophy - HP:0007149
Progressive extrapyramidal movement disorder - HP:0007153
Asymmetric limb muscle stiffness - HP:0007156
Progressive extrapyramidal muscular rigidity - HP:0007158
Fluctuations in consciousness - HP:0007159
Diffuse demyelination of the cerebral white matter - HP:0007162
obsolete Corticospinal tract disease in lower limbs - HP:0007163
Slowed slurred speech - HP:0007164
Periventricular heterotopia - HP:0007165
Paroxysmal dyskinesia - HP:0007166
Motor polyneuropathy - HP:0007178
Absent smooth pursuit - HP:0007179
Interosseus muscle atrophy - HP:0007181
Peripheral hypomyelination - HP:0007182
Focal T2 hyperintense basal ganglia lesion - HP:0007183
Loss of consciousness - HP:0007185
Focal lissencephaly - HP:0007187
Congenital facial diplegia - HP:0007188
Neuronal loss in the cerebral cortex - HP:0007190
Generalized tonic-clonic seizures on awakening - HP:0007193
Progressive spastic paraparesis - HP:0007199
Episodic hypersomnia - HP:0007200
Cerebral artery atherosclerosis - HP:0007201
Diffuse white matter abnormalities - HP:0007204
Hemimegalencephaly - HP:0007206
Photosensitive tonic-clonic seizure - HP:0007207
Irregular myelin loops - HP:0007208
Facial paralysis - HP:0007209
Lower limb amyotrophy - HP:0007210
Periodic hyperkalemic paralysis - HP:0007215
Demyelinating motor neuropathy - HP:0007220
Progressive truncal ataxia - HP:0007221
Macrogyria - HP:0007227
Intracerebral periventricular calcifications - HP:0007229
Decreased distal sensory nerve action potential - HP:0007230
Spinocerebellar tract disease in lower limbs - HP:0007232
Clusters of axonal regeneration - HP:0007233
Recurrent subcortical infarcts - HP:0007236
Nonarteriosclerotic cerebral calcification - HP:0007238
Congenital encephalopathy - HP:0007239
Progressive gait ataxia - HP:0007240
Decreased number of small peripheral myelinated nerve fibers - HP:0007249
Recurrent external ophthalmoplegia - HP:0007250
Abnormal pyramidal sign - HP:0007256
Severe demyelination of the white matter - HP:0007258
Type II lissencephaly - HP:0007260
Symmetric peripheral demyelination - HP:0007262
Spinocerebellar atrophy - HP:0007263
Absent mesencephalon - HP:0007265
Cerebral dysmyelination - HP:0007266
Chronic axonal neuropathy - HP:0007267
Aprosencephaly - HP:0007268
Spinal muscular atrophy - HP:0007269
Atypical absence seizure - HP:0007270
Occipital myelomeningocele - HP:0007271
Progressive psychomotor deterioration - HP:0007272
Recurrent bacterial meningitis - HP:0007274
Paucity of anterior horn motor neurons - HP:0007277
Acute infantile spinal muscular atrophy - HP:0007280
Developmental stagnation - HP:0007281
Facial palsy secondary to cranial hyperostosis - HP:0007285
Horizontal jerk nystagmus - HP:0007286
Limb fasciculations - HP:0007289
Posterior fossa cyst - HP:0007291
Anterior sacral meningocele - HP:0007293
Chaotic rapid conjugate ocular movements - HP:0007295
Dysfunction of lateral corticospinal tracts - HP:0007299
Oromotor apraxia - HP:0007301
Bipolar affective disorder - HP:0007302
CNS demyelination - HP:0007305
Rapid neurologic deterioration - HP:0007307
Extrapyramidal dyskinesia - HP:0007308
Short stepped shuffling gait - HP:0007311
Cerebral degeneration - HP:0007313
obsolete White matter neuronal heterotopia - HP:0007314
obsolete Involuntary writhing movements - HP:0007316
Deep white matter hypodensities - HP:0007321
Generalized dystonia - HP:0007325
Progressive choreoathetosis - HP:0007326
Mixed demyelinating and axonal polyneuropathy - HP:0007327
Impaired pain sensation - HP:0007328
Frontal encephalocele - HP:0007330
Focal hemifacial clonic seizure - HP:0007332
Hypoplasia of the frontal lobes - HP:0007333
Bilateral tonic-clonic seizure with focal onset - HP:0007334
Recurrent encephalopathy - HP:0007335
Hypermetric saccades - HP:0007338
Lower limb muscle weakness - HP:0007340
Diffuse swelling of cerebral white matter - HP:0007341
Abnormal morphology of the limbic system - HP:0007343
Atrophy/Degeneration involving the spinal cord - HP:0007344
Subcortical white matter calcifications - HP:0007346
Hypoplasia of the pyramidal tract - HP:0007348
Hyperreflexia in upper limbs - HP:0007350
Upper limb postural tremor - HP:0007351
Cerebellar calcifications - HP:0007352
Amyotrophic lateral sclerosis - HP:0007354
Focal-onset seizure - HP:0007359
Aplasia/Hypoplasia of the cerebellum - HP:0007360
Abnormality of the pons - HP:0007361
Aplasia/Hypoplasia of the brainstem - HP:0007362
Aplasia/Hypoplasia of the pyramidal tract - HP:0007363
Aplasia/Hypoplasia of the cerebrum - HP:0007364
Aplasia/Hypoplasia involving the corticospinal tracts - HP:0007365
Atrophy/Degeneration affecting the brainstem - HP:0007366
Atrophy/Degeneration affecting the central nervous system - HP:0007367
Atrophy/Degeneration affecting the cerebrum - HP:0007369
Aplasia/Hypoplasia of the corpus callosum - HP:0007370
Corpus callosum atrophy - HP:0007371
Atrophy/Degeneration involving the corticospinal tracts - HP:0007372
Motor neuron atrophy - HP:0007373
Atrophy/Degeneration involving the caudate nucleus - HP:0007374
Abnormality of the septum pellucidum - HP:0007375
Abnormality of the choroid plexus - HP:0007376
Abnormality of somatosensory evoked potentials - HP:0007377
Neoplasm of the gastrointestinal tract - HP:0007378
Neoplasm of the genitourinary tract - HP:0007379
Facial telangiectasia - HP:0007380
Congenital exfoliative erythroderma - HP:0007381
Congenital localized absence of skin - HP:0007383
Aberrant melanosome maturation - HP:0007384
Aplasia cutis congenita of scalp - HP:0007385
Hypoplastic sweat glands - HP:0007387
Hyperkeratosis with erythema - HP:0007390
Excessive wrinkled skin - HP:0007392
Prominent superficial blood vessels - HP:0007394
Postnatal-onset ichthyosiform erythroderma - HP:0007395
Early cutaneous photosensitivity - HP:0007396
Axillary apocrine gland hypoplasia - HP:0007397
Asymmetric, linear skin defects - HP:0007398
Irregular hyperpigmentation - HP:0007400
Macular atrophy - HP:0007401
Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines - HP:0007402
Hypertrophy of skin of soles - HP:0007403
Nonepidermolytic palmoplantar keratoderma - HP:0007404
Hyperpigmentation of eyelids - HP:0007406
Excessive skin wrinkling on dorsum of hands and fingers - HP:0007407
Tegumentary leishmaniasis susceptibility - HP:0007408
obsolete Absence of subcutaneous fat over entire body except buttocks, hips, and thighs - HP:0007409
Palmoplantar hyperhidrosis - HP:0007410
Hypoplastic-absent sebaceous glands - HP:0007411
Macular hyperpigmented dermopathy - HP:0007412
Nevus flammeus of the forehead - HP:0007413
Neonatal wrinkled skin of hands and feet - HP:0007414
Discoid lupus rash - HP:0007417
Alopecia totalis - HP:0007418
Spontaneous hematomas - HP:0007420
Telangiectases of the cheeks - HP:0007421
Hyperextensible skin of face - HP:0007425
Reticulated skin pigmentation - HP:0007427
Telangiectasia of the oral mucosa - HP:0007428
Few cafe-au-lait spots - HP:0007429
Generalized edema - HP:0007430
Congenital ichthyosiform erythroderma - HP:0007431
Intermittent generalized erythematous papular rash - HP:0007432
Plaque-like facial hemangioma - HP:0007434
Diffuse palmoplantar keratoderma - HP:0007435
Hair-nail ectodermal dysplasia - HP:0007436
Multiple cutaneous leiomyomas - HP:0007437
Mottled pigmentation of the trunk and proximal extremities - HP:0007438
Generalized keratosis follicularis - HP:0007439
Generalized hyperpigmentation - HP:0007440
Hyperpigmented/hypopigmented macules - HP:0007441
Partial albinism - HP:0007443
Palmoplantar blistering - HP:0007446
Diffuse palmoplantar hyperkeratosis - HP:0007447
Hyperkeratosis over edematous areas - HP:0007448
Confetti-like hypopigmented macules - HP:0007449
Increased groin pigmentation with raindrop depigmentation - HP:0007450
Ipsilateral lack of facial sweating - HP:0007451
Midface capillary hemangioma - HP:0007452
Flexural lichenification - HP:0007453
Adermatoglyphia - HP:0007455
Progressive reticulate hyperpigmentation - HP:0007456
Prominent veins on trunk - HP:0007457
Focal hyperextensible skin - HP:0007458
Generalized anhidrosis - HP:0007459
Autoamputation of digits - HP:0007460
Hemangiomatosis - HP:0007461
Bitot spots of the conjunctiva - HP:0007462
Sparse facial hair - HP:0007464
Honeycomb palmoplantar keratoderma - HP:0007465
Midfrontal capillary hemangioma - HP:0007466
Perifollicular hyperkeratosis - HP:0007468
Palmoplantar cutis gyrata - HP:0007469
Periarticular subcutaneous nodules - HP:0007470
Axillary and groin hyperpigmentation and hypopigmentation - HP:0007471
Crusting erythematous dermatitis - HP:0007473
Congenital bullous ichthyosiform erythroderma - HP:0007475
Anhidrotic ectodermal dysplasia - HP:0007476
Abnormal dermatoglyphics - HP:0007477
Congenital nonbullous ichthyosiform erythroderma - HP:0007479
Decreased sweating due to autonomic dysfunction - HP:0007480
Hyperpigmented nevi - HP:0007481
Generalized papillary lesions - HP:0007482
Depigmentation/hyperpigmentation of skin - HP:0007483
Absence of subcutaneous fat - HP:0007485
Cavernous hemangioma of the face - HP:0007486
Diffuse skin atrophy - HP:0007488
Diffuse telangiectasia - HP:0007489
Linear arrays of macular hyperkeratoses in flexural areas - HP:0007490
Discrete 2 to 5-mm hyper- and hypopigmented macules - HP:0007494
Prematurely aged appearance - HP:0007495
Focal friction-related palmoplantar hyperkeratosis - HP:0007497
Recurrent staphylococcal infections - HP:0007499
Decreased number of sweat glands - HP:0007500
Streaks of hyperkeratosis along each finger onto the palm - HP:0007501
Follicular hyperkeratosis - HP:0007502
Generalized ichthyosis - HP:0007503
Diffuse slow skin atrophy - HP:0007504
Progressive hyperpigmentation - HP:0007505
Congenital absence of skin of limbs - HP:0007506
Punctate palmar hyperkeratosis - HP:0007508
Patchy hypo- and hyperpigmentation - HP:0007509
Focal dermal aplasia/hypoplasia - HP:0007510
Mottled pigmentation of photoexposed areas - HP:0007511
Generalized hypopigmentation - HP:0007513
Edema of the dorsum of hands - HP:0007514
Hypoplastic pilosebaceous units - HP:0007515
Redundant skin on fingers - HP:0007516
Palmoplantar cutis laxa - HP:0007517
obsolete Lack of subcutaneous fatty tissue - HP:0007519
Irregular hyperpigmentation of back - HP:0007521
Increased number of skin folds - HP:0007522
Atypical neurofibromatosis - HP:0007524
Yellow subcutaneous tissue covered by thin, scaly skin - HP:0007525
Hypopigmented skin patches on arms - HP:0007526
Hidrotic ectodermal dysplasia - HP:0007529
Punctate palmoplantar hyperkeratosis - HP:0007530
Congenital posterior occipital alopecia - HP:0007534
Hypopigmented streaks - HP:0007535
Aplasia cutis congenita of midline scalp vertex - HP:0007536
Severe photosensitivity - HP:0007537
Frontal cutaneous lipoma - HP:0007541
Absent pigmentation of the ventral chest - HP:0007542
Epidermal hyperkeratosis - HP:0007543
Piebaldism - HP:0007544
Congenital palmoplantar keratosis - HP:0007545
Linear hyperpigmentation - HP:0007546
Palmoplantar keratosis with erythema and scale - HP:0007548
Desquamation of skin soon after birth - HP:0007549
Hypohidrosis or hyperhidrosis - HP:0007550
Abnormal subcutaneous fat tissue distribution - HP:0007552
Congenital symmetrical palmoplantar keratosis - HP:0007553
Confetti hypopigmentation pattern of lower leg skin - HP:0007554
Plantar hyperkeratosis - HP:0007556
Localized epidermolytic hyperkeratosis - HP:0007559
Unusual dermatoglyphics - HP:0007560
Telangiectases in sun-exposed and nonexposed skin - HP:0007561
Multiple cafe-au-lait spots - HP:0007565
Index finger dermatoglyphic radial loop - HP:0007566
Generalized seborrheic dermatitis - HP:0007569
Hyperkeratosis lenticularis perstans - HP:0007570
Hyperpigmented streaks - HP:0007572
Late onset atopic dermatitis - HP:0007573
Generalized bronze hyperpigmentation - HP:0007574
Palmar neurofibromas - HP:0007576
Mediosternal, longitudinal streak of hypopigmentation - HP:0007581
Telangiectasia macularis eruptiva perstans - HP:0007583
Skin fragility with non-scarring blistering - HP:0007585
Telangiectases producing 'marbled' skin - HP:0007586
Numerous pigmented freckles - HP:0007587
Reticular hyperpigmentation - HP:0007588
Aplasia cutis congenita on trunk or limbs - HP:0007589
Aplasia cutis congenita over posterior parietal area - HP:0007590
Aplasia/Hypoplastia of the eccrine sweat glands - HP:0007592
Redundant skin in infancy - HP:0007595
Painful subcutaneous lipomas - HP:0007596
Congenital palmoplantar keratodermia - HP:0007597
Bilateral single transverse palmar creases - HP:0007598
Generalized reticulate brown pigmentation - HP:0007599
Midline facial capillary hemangioma - HP:0007601
Complex palmar dermatoglyphic pattern - HP:0007602
Freckles in sun-exposed areas - HP:0007603
Excessive wrinkling of palmar skin - HP:0007605
Multiple cutaneous malignancies - HP:0007606
Hypohidrotic ectodermal dysplasia - HP:0007607
Abnormal palmar dermal ridges - HP:0007608
Hypoproteinemic edema - HP:0007609
Blotching pigmentation of the skin - HP:0007610
Spinous keratoses of palms and soles - HP:0007613
Nevus flammeus nuchae - HP:0007616
Fine, reticulate skin pigmentation - HP:0007617
Subcutaneous calcification - HP:0007618
Cutaneous leiomyoma - HP:0007620
Telangiectasia of extensor surfaces - HP:0007621
Pigmentation anomalies of sun-exposed skin - HP:0007623
Mandibular osteomyelitis - HP:0007626
Mandibular condyle aplasia - HP:0007627
Mandibular condyle hypoplasia - HP:0007628
Bilateral microphthalmos - HP:0007633
Nonarteritic anterior ischemic optic neuropathy - HP:0007634
Dyschromatopsia - HP:0007641
Congenital stationary night blindness - HP:0007642
Peripheral tractional retinal detachment - HP:0007643
Absent lower eyelashes - HP:0007646
Congenital extraocular muscle anomaly - HP:0007647
Punctate cataract - HP:0007648
Congenital hypertrophy of retinal pigment epithelium - HP:0007649
Progressive ophthalmoplegia - HP:0007650
Ectropion of lower eyelids - HP:0007651
obsolete Retinal striation - HP:0007654
Eversion of lateral third of lower eyelids - HP:0007655
Lacrimal gland aplasia - HP:0007656
Diffuse nuclear cataract - HP:0007657
Large hyperpigmented retinal spots - HP:0007658
obsolete Decreased retinal pigmentation with dispersion - HP:0007659
Abnormality of chorioretinal pigmentation - HP:0007661
Reduced visual acuity - HP:0007663
Curly eyelashes - HP:0007665
Peripheral cystoid retinal degeneration - HP:0007667
Impaired pursuit initiation and maintenance - HP:0007668
Abnormal vestibulo-ocular reflex - HP:0007670
Progressive night blindness - HP:0007675
Hypoplasia of the iris - HP:0007676
Vitelliform-like macular lesions - HP:0007677
Lacrimal duct stenosis - HP:0007678
Depigmented fundus - HP:0007680
Peripheral retinal avascularization - HP:0007685
Abnormal pupillary function - HP:0007686
Unilateral ptosis - HP:0007687
Undetectable light- and dark-adapted electroretinogram - HP:0007688
Map-dot-fingerprint corneal dystrophy - HP:0007690
obsolete Short curly eyelashes - HP:0007691
obsolete Nonnuclear polymorphic congenital cataract - HP:0007692
Abnormal pupillary light reflex - HP:0007695
Hypoplasia of the lower eyelids - HP:0007697
obsolete Retinal pigment epithelial atrophy - HP:0007698
Ocular anterior segment dysgenesis - HP:0007700
obsolete Pigmentary retinal deposits - HP:0007702
Abnormality of retinal pigmentation - HP:0007703
Paroxysmal involuntary eye movements - HP:0007704
Corneal degeneration - HP:0007705
Congenital aphakia - HP:0007707
Absent inner eyelashes - HP:0007708
Band-shaped corneal dystrophy - HP:0007709
Peripheral vitreous opacities - HP:0007710
obsolete Choroidal dystrophy - HP:0007712
obsolete Juvenile zonular cataracts - HP:0007713
Weak extraocular muscles - HP:0007715
Uveal melanoma - HP:0007716
Chronic irritative conjunctivitis - HP:0007717
Flat cornea - HP:0007720
Saccular conjunctival dilatations - HP:0007721
Retinal pigment epithelial atrophy - HP:0007722
Opacification of the corneal epithelium - HP:0007727
Congenital miosis - HP:0007728
Iris hypopigmentation - HP:0007730
Chorioretinal dysplasia - HP:0007731
Lacrimal gland hypoplasia - HP:0007732
Laterally curved eyebrow - HP:0007733
Enlarged lacrimal glands - HP:0007734
obsolete Pericentral retinal dystrophy - HP:0007736
Bone spicule pigmentation of the retina - HP:0007737
Uncontrolled eye movements - HP:0007738
obsolete Mildly reduced visual acuity - HP:0007739
Long eyelashes in irregular rows - HP:0007740
obsolete Iridoretinal coloboma - HP:0007744
Monocular horizontal nystagmus - HP:0007747
obsolete Irido-fundal coloboma - HP:0007748
Hypoplasia of the fovea - HP:0007750
Macular dystrophy - HP:0007754
Juvenile epithelial corneal dystrophy - HP:0007755
obsolete Slitlike anterior chamber angles in children - HP:0007756
obsolete Hypoplasia of choroid - HP:0007757
obsolete Congenital visual impairment - HP:0007758
Opacification of the corneal stroma - HP:0007759
Crystalline corneal dystrophy - HP:0007760
Pericentral scotoma - HP:0007761
Retinal telangiectasia - HP:0007763
Deep anterior chamber - HP:0007765
Optic disc hypoplasia - HP:0007766
Central retinal vessel vascular tortuosity - HP:0007768
Peripheral retinal degeneration - HP:0007769
Hypoplasia of the retina - HP:0007770
Impaired smooth pursuit - HP:0007772
Vitreoretinopathy - HP:0007773
Hypoplasia of the ciliary body - HP:0007774
Sparse lower eyelashes - HP:0007776
Chorioretinal scar - HP:0007777
Posterior retinal neovascularization - HP:0007778
Anterior segment of eye aplasia - HP:0007779
Cortical pulverulent cataract - HP:0007780
obsolete Peripheral retinal cone degeneration - HP:0007782
obsolete Butterfly retinal pigment epithelial dystrophy - HP:0007783
obsolete Lacunar retinal depigmentation - HP:0007786
Posterior subcapsular cataract - HP:0007787
Patchy atrophy of the retinal pigment epithelium - HP:0007791
Microsaccadic pursuit - HP:0007792
Granular macular appearance - HP:0007793
Anterior cortical cataract - HP:0007795
Retinal vascular malformation - HP:0007797
obsolete Foveal dystrophy - HP:0007798
Conjunctival whitish salt-like deposits - HP:0007799
Increased axial length of the globe - HP:0007800
obsolete Fishnet retinal pigmentation - HP:0007801
Granular corneal dystrophy - HP:0007802
Monochromacy - HP:0007803
Optic nerve compression - HP:0007807
obsolete Bilateral retinal coloboma - HP:0007808
Punctate corneal dystrophy - HP:0007809
obsolete Progressive bifocal chorioretinal atrophy - HP:0007810
Horizontal pendular nystagmus - HP:0007811
Herpetiform corneal ulceration - HP:0007812
Nongranulomatous uveitis - HP:0007813
Retinal pigment epithelial mottling - HP:0007814
Abnormal distribution of retinal arterioles and venules - HP:0007815
Horizontal supranuclear gaze palsy - HP:0007817
Central heterochromia - HP:0007818
Presenile cataracts - HP:0007819
Lacrimal punctal atresia - HP:0007820
Central retinal exudate - HP:0007822
Total ophthalmoplegia - HP:0007824
obsolete Cataracts develop in second or third decade - HP:0007825
Nodular corneal dystrophy - HP:0007827
obsolete Diffuse retinal cone degeneration - HP:0007829
Adult-onset night blindness - HP:0007830
Nonprogressive restrictive external ophthalmoplegia - HP:0007831
Pigmentation of the sclera - HP:0007832
Anterior chamber synechiae - HP:0007833
Progressive cataract - HP:0007834
S-shaped palpebral fissures - HP:0007835
Mosaic corneal dystrophy - HP:0007836
Progressive ptosis - HP:0007838
Long upper eyelashes - HP:0007840
Amyloid deposition in the vitreous humor - HP:0007841
Attenuation of retinal blood vessels - HP:0007843
Retinal vascular proliferation - HP:0007850
obsolete Temporal displacement of maculae - HP:0007851
obsolete Pericentral pigmentary retinopathy - HP:0007852
Glaucomatous visual field defect - HP:0007854
Punctate opacification of the cornea - HP:0007856
Chorioretinal lacunae - HP:0007858
Congenital horizontal nystagmus - HP:0007859
Retinal calcification - HP:0007862
Retinal infarction - HP:0007866
Restrictive partial external ophthalmoplegia - HP:0007867
obsolete Age-related macular degeneration - HP:0007868
obsolete Peripheral retinopathy - HP:0007869
Choroidal hemangioma - HP:0007872
Abnormally prominent line of Schwalbe - HP:0007873
Almond-shaped palpebral fissure - HP:0007874
Congenital blindness - HP:0007875
obsolete Juvenile cortical cataract - HP:0007876
Allergic conjunctivitis - HP:0007879
Marginal corneal dystrophy - HP:0007880
Central corneal dystrophy - HP:0007881
Slowed horizontal saccades - HP:0007885
Absent extraocular muscles - HP:0007886
Iridescent posterior subcapsular cataract - HP:0007889
Hypoplasia of the lacrimal punctum - HP:0007892
obsolete Progressive retinal degeneration - HP:0007893
Hypopigmentation of the fundus - HP:0007894
Exudative retinopathy - HP:0007898
Retinal nonattachment - HP:0007899
Hypoplastic lacrimal duct - HP:0007900
obsolete Retinal malformation - HP:0007901
Vitreous hemorrhage - HP:0007902
Paravenous chorioretinal atrophy - HP:0007903
Abnormal iris vasculature - HP:0007905
Ocular hypertension - HP:0007906
obsolete Nonprogressive congenital retinal dystrophy - HP:0007910
Congenital bilateral ptosis - HP:0007911
Reticular retinal dystrophy - HP:0007913
Polymorphous posterior corneal dystrophy - HP:0007915
obsolete Small anterior lens surface opacities - HP:0007916
Tractional retinal detachment - HP:0007917
obsolete Congenital chorioretinal dystrophy - HP:0007920
Hypermyelinated retinal nerve fibers - HP:0007922
obsolete Foveal hyperplasia - HP:0007923
Slow decrease in visual acuity - HP:0007924
Lacrimal duct aplasia - HP:0007925
Abnormal flash visual evoked potentials - HP:0007928
Peripheral retinal detachment - HP:0007929
obsolete Prominent epicanthal folds - HP:0007930
Bilateral congenital mydriasis - HP:0007932
Broad lateral eyebrow - HP:0007933
Juvenile posterior subcapsular lenticular opacities - HP:0007935
Restrictive external ophthalmoplegia - HP:0007936
Reticular pigmentary degeneration - HP:0007937
Blue cone monochromacy - HP:0007939
Limited extraocular movements - HP:0007941
Internal ophthalmoplegia - HP:0007942
Congenital stapes ankylosis - HP:0007943
Intermittent microsaccadic pursuits - HP:0007944
obsolete Choroidal degeneration - HP:0007945
Unilateral narrow palpebral fissure - HP:0007946
Pericentral retinitis pigmentosa - HP:0007947
Dense posterior cortical cataract - HP:0007948
obsolete Progressive macular scarring - HP:0007949
Peripapillary chorioretinal atrophy - HP:0007950
obsolete Bilateral choroid coloboma - HP:0007956
Corneal opacity - HP:0007957
Optic atrophy from cranial nerve compression - HP:0007958
obsolete Rarefaction of retinal pigmentation - HP:0007961
Speckled corneal dystrophy - HP:0007962
Pattern dystrophy of the retina - HP:0007963
Degenerative vitreoretinopathy - HP:0007964
Undetectable visual evoked potentials - HP:0007965
Remnants of the hyaloid vascular system - HP:0007968
Congenital ptosis - HP:0007970
Lamellar cataract - HP:0007971
Retinal dysplasia - HP:0007973
Hypometric horizontal saccades - HP:0007975
Cerulean cataract - HP:0007976
Gaze-evoked horizontal nystagmus - HP:0007979
Absent retinal pigment epithelium - HP:0007980
obsolete Concentric narrowing of visual field - HP:0007981
obsolete Central tapetoretinal dystrophy - HP:0007982
Electronegative electroretinogram - HP:0007984
Retinal arteriolar occlusion - HP:0007985
Increased retinal vascularity - HP:0007986
Progressive visual field defects - HP:0007987
Macular hypopigmentation - HP:0007988
Intraretinal exudate - HP:0007989
Hypoplastic iris stroma - HP:0007990
Lattice retinal degeneration - HP:0007992
Malformed lacrimal duct - HP:0007993
Peripheral visual field loss - HP:0007994
Decreased corneal reflex - HP:0008000
Foveal hyperpigmentation - HP:0008001
Abnormality of macular pigmentation - HP:0008002
Jerky ocular pursuit movements - HP:0008003
Congenital corneal dystrophy - HP:0008005
Primary congenital glaucoma - HP:0008007
obsolete Progressive central visual loss - HP:0008008
Three rows of eyelashes - HP:0008009
Peripheral opacification of the cornea - HP:0008011
obsolete Congenital myopia - HP:0008012
Central fundal arteriolar microaneurysms - HP:0008014
obsolete Depigmented lesions of the retinal pigment epithelium - HP:0008017
Superior lens subluxation - HP:0008019
Cone dystrophy - HP:0008020
obsolete Congenital nuclear cataract - HP:0008024
Horizontal opticokinetic nystagmus - HP:0008026
Cystoid macular degeneration - HP:0008028
Retinal arteritis - HP:0008030
Posterior Y-sutural cataract - HP:0008031
obsolete Congenital exotropia - HP:0008033
Abnormal iris pigmentation - HP:0008034
Retinitis pigmentosa inversa - HP:0008035
obsolete Rod-cone dystrophy - HP:0008036
Absent anterior chamber of the eye - HP:0008037
Aplastic/hypoplastic lacrimal glands - HP:0008038
Subepithelial corneal opacities - HP:0008039
Late onset congenital glaucoma - HP:0008041
Retinal arteriolar constriction - HP:0008043
Enlarged flash visual evoked potentials - HP:0008045
Abnormal retinal vascular morphology - HP:0008046
Abnormality of the vasculature of the eye - HP:0008047
Abnormality of the line of Schwalbe - HP:0008048
Abnormality of the extraocular muscles - HP:0008049
Abnormality of the palpebral fissures - HP:0008050
obsolete Abnormality of the retinal pigment epithelium - HP:0008051
Retinal fold - HP:0008052
Aplasia/Hypoplasia of the iris - HP:0008053
Abnormal morphology of the conjunctival vasculature - HP:0008054
Aplasia/Hypoplasia affecting the uvea - HP:0008055
Aplasia/Hypoplasia affecting the eye - HP:0008056
Aplasia/Hypoplasia affecting the fundus - HP:0008057
Aplasia/Hypoplasia of the optic nerve - HP:0008058
Aplasia/Hypoplasia of the macula - HP:0008059
Aplasia/Hypoplasia of the fovea - HP:0008060
Aplasia/Hypoplasia of the retina - HP:0008061
Aplasia/Hypoplasia affecting the anterior segment of the eye - HP:0008062
Aplasia/Hypoplasia of the lens - HP:0008063
Ichthyosis - HP:0008064
Aplasia/Hypoplasia of the skin - HP:0008065
Abnormal blistering of the skin - HP:0008066
Abnormally lax or hyperextensible skin - HP:0008067
Neoplasm of the skin - HP:0008069
Sparse hair - HP:0008070
Maternal hypertension - HP:0008071
Maternal virilization in pregnancy - HP:0008072
Low maternal serum estriol - HP:0008073
Metatarsal periosteal thickening - HP:0008074
Progressive pes cavus - HP:0008075
Osteoporotic tarsals - HP:0008076
Thin metatarsal cortices - HP:0008078
Absent fifth metatarsal - HP:0008079
Hallux varus - HP:0008080
Pes valgus - HP:0008081
Medial deviation of the foot - HP:0008082
2nd-5th toe middle phalangeal hypoplasia - HP:0008083
Nonossified fifth metatarsal - HP:0008087
Abnormality of the fifth metatarsal bone - HP:0008089
Ankylosis of feet small joints - HP:0008090
Short 4th toe - HP:0008093
Widely spaced toes - HP:0008094
Osteolysis of talus - HP:0008095
Medially deviated second toe - HP:0008096
Partial fusion of tarsals - HP:0008097
Expanded metatarsals with widened medullary cavities - HP:0008102
Delayed tarsal ossification - HP:0008103
Plantar crease between first and second toes - HP:0008107
Advanced tarsal ossification - HP:0008108
Equinovarus deformity - HP:0008110
Broad distal hallux - HP:0008111
Plantar flexion contractures - HP:0008112
Multiple plantar creases - HP:0008113
Metatarsal diaphyseal endosteal sclerosis - HP:0008114
Clinodactyly of the 3rd toe - HP:0008115
Flexion limitation of toes - HP:0008116
Shortening of the talar neck - HP:0008117
Deformed tarsal bones - HP:0008119
Calcaneonavicular fusion - HP:0008122
Talipes calcaneovarus - HP:0008124
Second metatarsal posteriorly placed - HP:0008125
Bipartite calcaneus - HP:0008127
Tarsal stippling - HP:0008131
Medial rotation of the medial malleolus - HP:0008132
Distal tapering of metatarsals - HP:0008133
Irregular tarsal ossification - HP:0008134
Equinus calcaneus - HP:0008138
Dislocation of toes - HP:0008141
Delayed calcaneal ossification - HP:0008142
Flattening of the talar dome - HP:0008144
Impaired epinephrine-induced platelet aggregation - HP:0008148
Elevated serum transaminases during infections - HP:0008150
Prolonged prothrombin time - HP:0008151
Periodic hypokalemic paresis - HP:0008153
Mucopolysacchariduria - HP:0008155
Hyperapobetalipoproteinemia - HP:0008158
3-hydroxydicarboxylic aciduria - HP:0008160
Absent leukocyte alkaline phosphatase - HP:0008161
Asymptomatic hyperammonemia - HP:0008162
Decreased circulating cortisol level - HP:0008163
Decreased proportion circulating T-helper cells - HP:0008165
Decreased beta-galactosidase activity - HP:0008166
Very long chain fatty acid accumulation - HP:0008167
Reduced factor VII activity - HP:0008169
Neonatal unconjugated hyperbilirubinemia - HP:0008176
Abnormal cartilage matrix - HP:0008178
Decreased Arden ratio of electrooculogram - HP:0008179
Mildly elevated creatine kinase - HP:0008180
Abetalipoproteinemia - HP:0008181
Adrenocortical hypoplasia - HP:0008182
Precocious puberty in males - HP:0008185
Adrenocortical cytomegaly - HP:0008186
Absence of secondary sex characteristics - HP:0008187
Thyroid dysgenesis - HP:0008188
Insulin insensitivity - HP:0008189
Thyroid agenesis - HP:0008191
Primary gonadal insufficiency - HP:0008193
Multiple pancreatic beta-cell adenomas - HP:0008194
Absence of pubertal development - HP:0008197
Congenital hypoparathyroidism - HP:0008198
Primary hyperparathyroidism - HP:0008200
Reduced circulating prolactin concentration - HP:0008202
Precocious puberty with Sertoli cell tumor - HP:0008204
Insulin-dependent but ketosis-resistant diabetes - HP:0008205
Primary adrenal insufficiency - HP:0008207
Parathyroid hyperplasia - HP:0008208
Premature ovarian insufficiency - HP:0008209
Parathyroid agenesis - HP:0008211
Gonadotropin deficiency - HP:0008213
Decreased serum estradiol - HP:0008214
Adrenal gland dysgenesis - HP:0008216
Adrenal hyperplasia - HP:0008221
Female infertility - HP:0008222
Compensated hypothyroidism - HP:0008223
Thyroid follicular hyperplasia - HP:0008225
Androgen insufficiency - HP:0008226
Pituitary resistance to thyroid hormone - HP:0008227
Thyroid lymphangiectasia - HP:0008229
obsolete Decreased testosterone in males - HP:0008230
Macronodular adrenal hyperplasia - HP:0008231
Elevated circulating follicle stimulating hormone level - HP:0008232
Decreased circulating progesterone - HP:0008233
Isosexual precocious puberty - HP:0008236
Hypothalamic hypothyroidism - HP:0008237
Adrenal medullary hypoplasia - HP:0008239
Secondary growth hormone deficiency - HP:0008240
Pseudohypoaldosteronism - HP:0008242
Congenital adrenal hypoplasia - HP:0008244
Pituitary hypothyroidism - HP:0008245
Euthyroid hyperthyroxinemia - HP:0008247
Thyroid hyperplasia - HP:0008249
Infantile hypercalcemia - HP:0008250
Congenital goiter - HP:0008251
Transient neonatal diabetes mellitus - HP:0008255
Adrenocortical adenoma - HP:0008256
Congenital adrenal hyperplasia - HP:0008258
Adrenocorticotropin receptor defect - HP:0008259
Pancreatic islet cell adenoma - HP:0008261
Thyroid defect in oxidation and organification of iodide - HP:0008263
Neutrophil inclusion bodies - HP:0008264
Mitochondrial lysine transport defect - HP:0008265
Increased red cell hemolysis by shear stress - HP:0008269
Abnormal cartilage collagen - HP:0008271
Renal tubular lysine transport defect - HP:0008272
Transient aminoaciduria - HP:0008273
Abnormal light-adapted electroretinogram - HP:0008275
Abnormal blood zinc concentration - HP:0008277
Cerebellar cortical atrophy - HP:0008278
Transient hyperlipidemia - HP:0008279
Acute hyperammonemia - HP:0008281
Unconjugated hyperbilirubinemia - HP:0008282
Fasting hyperinsulinemia - HP:0008283
Transient hypophosphatemia - HP:0008285
Nonketotic hyperglycinemia - HP:0008288
Partial complement factor H deficiency - HP:0008290
Pituitary corticotropic cell adenoma - HP:0008291
Long-chain dicarboxylic aciduria - HP:0008293
Transient hyperphenylalaninemia - HP:0008297
Dermatan sulfate excretion in urine - HP:0008301
Olivary degeneration - HP:0008303
Exercise-induced myoglobinuria - HP:0008305
Abnormal iron deposition in mitochondria - HP:0008306
Medium chain dicarboxylic aciduria - HP:0008309
Spinal cord posterior columns myelin loss - HP:0008311
Decreased activity of mitochondrial complex II - HP:0008314
Decreased plasma free carnitine - HP:0008315
Abnormal mitochondria in muscle tissue - HP:0008316
Elevated leukocyte alkaline phosphatase - HP:0008318
Impaired collagen-induced platelet aggregation - HP:0008320
Reduced factor X activity - HP:0008321
Abnormal mitochondrial morphology - HP:0008322
Abnormal light- and dark-adapted electroretinogram - HP:0008323
Reduced circulating vitamin B6 level - HP:0008326
Microscopic nephrocalcinosis - HP:0008327
Reduced von Willebrand factor activity - HP:0008330
Elevated creatine kinase after exercise - HP:0008331
Renal aminoaciduria - HP:0008335
Complex organic aciduria - HP:0008336
Partial functional complement factor D deficiency - HP:0008338
Diaminoaciduria - HP:0008339
Distal renal tubular acidosis - HP:0008341
Elevated plasma branched chain amino acids - HP:0008344
Hypoplasia of the iris dilator muscle - HP:0008345
Increased red cell sickling tendency - HP:0008346
Decreased activity of mitochondrial complex IV - HP:0008347
Decreased circulating IgG2 level - HP:0008348
Impaired platelet adhesion - HP:0008352
Neutral hyperaminoaciduria - HP:0008353
Factor X activation deficiency - HP:0008354
obsolete Combined hyperlipidemia - HP:0008356
Reduced factor XIII activity - HP:0008357
Hyperprolinemia - HP:0008358
Neonatal hypoproteinemia - HP:0008360
Corticospinal tract pallor - HP:0008361
Aplasia/Hypoplasia of the hallux - HP:0008362
Aplasia/Hypoplasia of the tarsal bones - HP:0008363
Abnormality of the calcaneus - HP:0008364
Abnormality of the talus - HP:0008365
Contractures involving the joints of the feet - HP:0008366
Tarsal synostosis - HP:0008368
Abnormal tarsal ossification - HP:0008369
Abnormal metatarsal ossification - HP:0008371
Abnormality of vitamin A metabolism - HP:0008372
Puberty and gonadal disorders - HP:0008373
Nasal, dysarthic speech - HP:0008376
Slow-growing nails - HP:0008383
Aplasia/Hypoplasia of the nails - HP:0008386
Abnormal toenail morphology - HP:0008388
Recurrent loss of toenails and fingernails - HP:0008390
Dystrophic fingernails - HP:0008391
Subungual hyperkeratosis - HP:0008392
Congenital curved nail of fourth toe - HP:0008393
Congenital onychodystrophy - HP:0008394
Chronic monilial nail infection - HP:0008396
Hypoplastic fifth fingernail - HP:0008398
Circumungual hyperkeratosis - HP:0008399
Onycholysis of distal fingernails - HP:0008400
Onychogryposis of toenails - HP:0008401
Ridged fingernail - HP:0008402
Nail dystrophy - HP:0008404
Hyperconvex thumb nails - HP:0008407
Subungual hyperkeratotic fragments - HP:0008410
Lumbar kyphosis in infancy - HP:0008414
Six lumbar vertebrae - HP:0008416
Vertebral hypoplasia - HP:0008417
Squared-off platyspondyly - HP:0008418
Intervertebral disc degeneration - HP:0008419
Punctate vertebral calcifications - HP:0008420
Tall lumbar vertebral bodies - HP:0008421
Vertebral wedging - HP:0008422
Spinal dysplasia - HP:0008423
Hypoplastic 5th lumbar vertebrae - HP:0008424
Cuboid-shaped thoracolumbar vertebral bodies - HP:0008425
Vertebral clefting - HP:0008428
Anterior beaking of lumbar vertebrae - HP:0008430
Anterior wedging of L1 - HP:0008432
Reversed usual vertebral column curves - HP:0008433
Hypoplastic cervical vertebrae - HP:0008434
Absent in utero ossification of vertebral bodies - HP:0008435
Absent/hypoplastic coccyx - HP:0008436
Bifid thoracic vertebrae - HP:0008437
Vertebral arch anomaly - HP:0008438
Lumbar hemivertebrae - HP:0008439
C1-C2 vertebral abnormality - HP:0008440
Herniation of intervertebral nuclei - HP:0008441
Vertebral hyperostosis - HP:0008442
Spinal deformities - HP:0008443
Posterior wedging of vertebral bodies - HP:0008444
Cervical spinal canal stenosis - HP:0008445
Hypoplastic coccygeal vertebrae - HP:0008447
Progressive cervical vertebral spine fusion - HP:0008449
Narrow vertebral interpedicular distance - HP:0008450
Posterior vertebral hypoplasia - HP:0008451
Wafer-thin platyspondyly - HP:0008452
Congenital kyphoscoliosis - HP:0008453
Lumbar kyphosis - HP:0008454
Dysplastic sacrum - HP:0008455
C2-C3 subluxation - HP:0008456
Caudal interpedicular narrowing - HP:0008457
Progressive congenital scoliosis - HP:0008458
Cervical vertebral agenesis - HP:0008459
Hypoplastic spinal processes - HP:0008460
Cervical vertebral facet hypoplasia - HP:0008461
Cervical instability - HP:0008462
Central vertebral hypoplasia - HP:0008463
Absent spinous processes of lower thoracic and lumbar vertebrae - HP:0008464
Absent vertebra - HP:0008465
Thoracic hemivertebrae - HP:0008467
Abnormal sacral segmentation - HP:0008468
Cervical vertebral dysplasia - HP:0008469
Lower thoracic interpediculate narrowness - HP:0008470
Prominent protruding coccyx - HP:0008472
Narrow anterio-posterior vertebral body diameter - HP:0008473
Hypoplastic sacral vertebrae - HP:0008475
Irregular sclerotic endplates - HP:0008476
Poorly ossified cervical vertebrae - HP:0008477
Scheuermann-like vertebral changes - HP:0008478
Hypoplastic vertebral bodies - HP:0008479
Cervical spondylosis - HP:0008480
Asymmetry of spinal facet joints - HP:0008482
Cervical vertebral bodies with decreased anteroposterior diameter - HP:0008483
Thoracolumbar interpediculate narrowness - HP:0008484
Lumbar interpedicular narrowing - HP:0008486
Anterior rounding of vertebral bodies - HP:0008488
Spondylolisthesis at L5-S1 - HP:0008489
Sacral segmentation defect - HP:0008490
Premature anterior fontanel closure - HP:0008491
Inferior lens subluxation - HP:0008494
Multiple rows of eyelashes - HP:0008496
Congenital craniofacial dysostosis - HP:0008497
No permanent dentition - HP:0008498
High hypermetropia - HP:0008499
Median cleft lip and palate - HP:0008501
Moderate sensorineural hearing impairment - HP:0008504
Static ophthalmoparesis - HP:0008507
Aged leonine appearance - HP:0008509
Central posterior corneal opacity - HP:0008511
Bilateral conductive hearing impairment - HP:0008513
Aplasia/Hypoplasia of the vertebrae - HP:0008515
Abnormality of the vertebral spinous processes - HP:0008516
Aplasia/Hypoplasia of the sacrum - HP:0008517
Aplasia/Hypoplasia involving the vertebral column - HP:0008518
Abnormality of the coccyx - HP:0008519
Posterior helix pit - HP:0008523
Congenital sensorineural hearing impairment - HP:0008527
Long hairs growing from helix of pinna - HP:0008528
Absence of acoustic reflex - HP:0008529
Cleft at the superior portion of the pinna - HP:0008537
Superiorly displaced ears - HP:0008541
Low-frequency hearing loss - HP:0008542
Abnormally folded helix - HP:0008544
Microtia - HP:0008551
Cochlear malformation - HP:0008554
Absent vestibular function - HP:0008555
Hypoplastic superior helix - HP:0008559
Vestibular areflexia - HP:0008568
Microtia, second degree - HP:0008569
External ear malformation - HP:0008572
Low-frequency sensorineural hearing impairment - HP:0008573
Underfolded helix - HP:0008577
Underfolded superior helices - HP:0008583
Hypoplasia of the cochlea - HP:0008586
Mild neurosensory hearing impairment - HP:0008587
Slit-like opening of the exterior auditory meatus - HP:0008588
Hypoplastic helices - HP:0008589
Congenital conductive hearing impairment - HP:0008591
Prominent antitragus - HP:0008593
Postlingual sensorineural hearing impairment - HP:0008596
Mild conductive hearing impairment - HP:0008598
Unilateral external ear deformity - HP:0008605
Supraauricular pit - HP:0008606
Progressive conductive hearing impairment - HP:0008607
Hypertrophic auricular cartilage - HP:0008608
Morphological abnormality of the middle ear - HP:0008609
Infantile sensorineural hearing impairment - HP:0008610
Adult onset sensorineural hearing impairment - HP:0008615
Bilateral sensorineural hearing impairment - HP:0008619
Severe sensorineural hearing impairment - HP:0008625
Abnormality of the stapes - HP:0008628
Pulsatile tinnitus - HP:0008629
Ureteral dysgenesis - HP:0008631
Agonadism - HP:0008633
Hypertrophy of the urinary bladder - HP:0008635
Lobular glomerulopathy - HP:0008636
Gonadal hypoplasia - HP:0008639
Congenital macroorchidism - HP:0008640
Nephroblastomatosis - HP:0008643
Pubertal developmental failure in females - HP:0008647
Anteriorly displaced urethral meatus - HP:0008648
Uric acid urolithiasis independent of gout - HP:0008651
Autonomic erectile dysfunction - HP:0008652
Crescentic glomerulonephritis - HP:0008653
Aplasia/Hypoplasia of the fallopian tube - HP:0008655
Incomplete male pseudohermaphroditism - HP:0008656
Multiple small medullary renal cysts - HP:0008659
Renotubular dysgenesis - HP:0008660
Urethral stenosis - HP:0008661
Renal sarcoma - HP:0008663
Urethral sphincter sclerosis - HP:0008664
Clitoral hypertrophy - HP:0008665
Impaired histidine renal tubular absorption - HP:0008666
Gonadal dysgenesis, male - HP:0008668
Abnormal spermatogenesis - HP:0008669
Partial vaginal septum - HP:0008670
Calcium oxalate nephrolithiasis - HP:0008672
Enlarged polycystic ovaries - HP:0008675
Congenital megaureter - HP:0008676
Congenital nephrotic syndrome - HP:0008677
Renal hypoplasia/aplasia - HP:0008678
Renal tubular epithelial necrosis - HP:0008682
Enlarged labia minora - HP:0008683
Aplasia/hypoplasia of the uterus - HP:0008684
Hypoplasia of the prostate - HP:0008687
Bilateral cryptorchidism - HP:0008689
Solitary bladder diverticulum - HP:0008691
obsolete Hypertrophic labia minora - HP:0008694
Transient nephrotic syndrome - HP:0008695
Renal hamartoma - HP:0008696
Hypoplasia of the fallopian tube - HP:0008697
Absent internal genitalia - HP:0008702
Gonadal calcification - HP:0008703
Ureteral triplication - HP:0008705
Distal urethral duplication - HP:0008706
Absent scrotum - HP:0008707
Partial development of the penile shaft - HP:0008708
Benign prostatic hyperplasia - HP:0008711
Ureterovesical stenosis - HP:0008714
Testicular dysgenesis - HP:0008715
Urethrovaginal fistula - HP:0008716
Unilateral renal atrophy - HP:0008717
Unilateral renal dysplasia - HP:0008718
Primary testicular failure - HP:0008720
Urethral diverticulum - HP:0008722
Gonadal dysgenesis with female appearance, male - HP:0008723
Hypoplasia of the ovary - HP:0008724
Hypoplasia of the vagina - HP:0008726
Absence of labia majora - HP:0008729
Female external genitalia in individual with 46,XY karyotype - HP:0008730
Renal hypophosphatemia - HP:0008732
Dysplastic testes - HP:0008733
Decreased testicular size - HP:0008734
Hypoplasia of penis - HP:0008736
Partially duplicated kidney - HP:0008738
Labial pseudohypertrophy - HP:0008739
Longitudinal vaginal septum - HP:0008740
Prominent prostate median bar - HP:0008742
Coronal hypospadias - HP:0008743
Abnormality of the aryepiglottic fold - HP:0008744
Cartilaginous ossification of larynx - HP:0008747
Laryngeal hypoplasia - HP:0008749
Laryngeal atresia - HP:0008750
Laryngeal cleft - HP:0008751
Laryngeal cartilage malformation - HP:0008752
Aplasia of the epiglottis - HP:0008753
Laryngeal calcification - HP:0008754
Laryngotracheomalacia - HP:0008755
Bowing of the vocal cords - HP:0008756
Unilateral vocal cord paralysis - HP:0008757
Violent behavior - HP:0008760
Repetitive compulsive behavior - HP:0008762
No social interaction - HP:0008763
Auditory hallucinations - HP:0008765
Self-mutilation of tongue and lips due to involuntary movements - HP:0008767
Inappropriate sexual behavior - HP:0008768
Obsessive-compulsive trait - HP:0008770
Aplasia/Hypoplasia of the ear - HP:0008771
Aplasia/Hypoplasia of the external ear - HP:0008772
Aplasia/Hypoplasia of the middle ear - HP:0008773
Aplasia/Hypoplasia of the inner ear - HP:0008774
Abnormal prostate morphology - HP:0008775
Abnormal renal artery morphology - HP:0008776
Abnormal vocal cord morphology - HP:0008777
Congenital bilateral hip dislocation - HP:0008780
Wide proximal femoral metaphysis - HP:0008783
Wide capital femoral epiphyses - HP:0008784
Delayed ossification of pubic rami - HP:0008785
Iliac crest serration - HP:0008786
Delayed pubic bone ossification - HP:0008788
Cone-shaped capital femoral epiphysis - HP:0008789
Dysplastic iliac wings - HP:0008794
Externally rotated hips - HP:0008796
Early ossification of capital femoral epiphyses - HP:0008797
Widened greater sciatic notch - HP:0008798
Limited hip movement - HP:0008800
Hypoplasia of the lesser trochanter - HP:0008801
Hypoplasia of the femoral head - HP:0008802
obsolete Narrow sacroiliac notch - HP:0008803
Broad femoral head - HP:0008804
Acetabular dysplasia - HP:0008807
High iliac wings - HP:0008808
Flattened femoral head - HP:0008812
Aplastic pubic bones - HP:0008817
Large iliac wings - HP:0008818
Narrow femoral neck - HP:0008819
Absent ossification of capital femoral epiphysis - HP:0008820
Hypoplastic inferior ilia - HP:0008821
Hypoplastic ischiopubic rami - HP:0008822
Hypoplastic inferior pubic rami - HP:0008823
Hypoplastic iliac body - HP:0008824
Dislocation of the femoral head - HP:0008826
Delayed proximal femoral epiphyseal ossification - HP:0008828
Delayed femoral head ossification - HP:0008829
Hypoplastic pubic rami - HP:0008830
Irregular acetabular roof - HP:0008833
Multicentric femoral head ossification - HP:0008835
Stippled calcification proximal humeral epiphyses - HP:0008838
Hypoplastic pelvis - HP:0008839
Hip osteoarthritis - HP:0008843
Mesomelic short stature - HP:0008845
Severe intrauterine growth retardation - HP:0008846
Moderately short stature - HP:0008848
Severe postnatal growth retardation - HP:0008850
Moderate postnatal growth retardation - HP:0008855
Neonatal short-trunk short stature - HP:0008857
Failure to thrive secondary to recurrent infections - HP:0008866
Feeding difficulties in infancy - HP:0008872
Disproportionate short-limb short stature - HP:0008873
Mild intrauterine growth retardation - HP:0008883
Adipose tissue loss - HP:0008887
Severe short-limb dwarfism - HP:0008890
Postnatal growth retardation - HP:0008897
Rhizomelia - HP:0008905
Lethal short-limbed short stature - HP:0008909
Childhood-onset truncal obesity - HP:0008915
Neonatal short-limb short stature - HP:0008921
Childhood-onset short-trunk short stature - HP:0008922
Asymmetric short stature - HP:0008929
Generalized neonatal hypotonia - HP:0008935
Muscular hypotonia of the trunk - HP:0008936
Generalized lymphadenopathy - HP:0008940
Acute rhabdomyolysis - HP:0008942
Distal lower limb amyotrophy - HP:0008944
Loss of ability to walk in early childhood - HP:0008945
Pelvic girdle amyotrophy - HP:0008946
Infantile muscular hypotonia - HP:0008947
Proximal upper limb amyotrophy - HP:0008948
Shoulder muscle hypoplasia - HP:0008952
Pectoralis major hypoplasia - HP:0008953
Intrinsic hand muscle atrophy - HP:0008954
Progressive distal muscular atrophy - HP:0008955
Proximal lower limb amyotrophy - HP:0008956
Distal upper limb muscle weakness - HP:0008959
Calf muscle hypoplasia - HP:0008962
Tibialis muscle weakness - HP:0008963
Nonprogressive muscular atrophy - HP:0008964
Exercise-induced muscle stiffness - HP:0008967
Muscle hypertrophy of the lower extremities - HP:0008968
Leg muscle stiffness - HP:0008969
Scapulohumeral muscular dystrophy - HP:0008970
Decreased activity of mitochondrial respiratory chain - HP:0008972
Necrotizing myopathy - HP:0008978
Calf muscle hypertrophy - HP:0008981
Neck muscle hypoplasia - HP:0008984
Increased intramuscular fat - HP:0008985
Agenesis of the diaphragm - HP:0008986
Pelvic girdle muscle atrophy - HP:0008988
Exercise-induced leg cramps - HP:0008991
Increased intraabdominal fat - HP:0008993
Proximal muscle weakness in lower limbs - HP:0008994
Proximal muscle weakness in upper limbs - HP:0008997
Pectoralis hypoplasia - HP:0008998
Loss of truncal subcutaneous adipose tissue - HP:0009002
Increased subcutaneous truncal adipose tissue - HP:0009003
Hypoplasia of the musculature - HP:0009004
Weakness of the intrinsic hand muscles - HP:0009005
Biceps hypoplasia - HP:0009007
Hypoplasia of serratus anterior muscle - HP:0009011
Congenital absence of gluteal muscles - HP:0009013
Upper limb muscle hypoplasia - HP:0009016
Loss of gluteal subcutaneous adipose tissue - HP:0009017
Progressive loss of facial adipose tissue - HP:0009019
Exercise-induced muscle fatigue - HP:0009020
Abdominal wall muscle weakness - HP:0009023
Increased connective tissue - HP:0009025
Hypoplasia of latissimus dorsi muscle - HP:0009026
Foot dorsiflexor weakness - HP:0009027
Generalized weakness of limb muscles - HP:0009028
Amyotrophy of ankle musculature - HP:0009031
Segmental spinal muscular atrophy - HP:0009037
Marked muscular hypertrophy - HP:0009042
obsolete Hypoplasia of deltoid muscle - HP:0009044
Exercise-induced rhabdomyolysis - HP:0009045
Difficulty running - HP:0009046
Peroneal muscle atrophy - HP:0009049
Quadriceps muscle atrophy - HP:0009050
Increased muscle glycogen content - HP:0009051
Distal lower limb muscle weakness - HP:0009053
Scapuloperoneal myopathy - HP:0009054
Generalized limb muscle atrophy - HP:0009055
Loss of subcutaneous adipose tissue from upper limbs - HP:0009056
Increased muscle lipid content - HP:0009058
Congenital generalized lipodystrophy - HP:0009059
Scapular muscle atrophy - HP:0009060
Infantile axial hypotonia - HP:0009062
Progressive distal muscle weakness - HP:0009063
Generalized lipodystrophy - HP:0009064
Progressive spinal muscular atrophy - HP:0009067
Lethal infantile mitochondrial myopathy - HP:0009069
Inflammatory myopathy - HP:0009071
Decreased Achilles reflex - HP:0009072
Progressive proximal muscle weakness - HP:0009073
Weakness of long finger extensor muscles - HP:0009077
Midline notch of upper alveolar ridge - HP:0009084
Alveolar ridge overgrowth - HP:0009085
Posteriorly placed tongue - HP:0009087
Speech articulation difficulties - HP:0009088
obsolete Facial diplegic appearance - HP:0009090
Progressive alveolar ridge hypertropy - HP:0009092
Cleft lower alveolar ridge - HP:0009094
Chronic oral candidiasis - HP:0009098
Median cleft palate - HP:0009099
Thick anterior alveolar ridges - HP:0009100
Submucous cleft lip - HP:0009101
Anterior open-bite malocclusion - HP:0009102
Aplasia/Hypoplasia involving the pelvis - HP:0009103
Aplasia/Hypoplasia of the pubic bone - HP:0009104
Abnormal ossification of the pubic bone - HP:0009105
Abnormal pelvis bone ossification - HP:0009106
Abnormal ossification involving the femoral head and neck - HP:0009107
Aplasia/Hypoplasia involving the femoral head and neck - HP:0009108
Denervation of the diaphragm - HP:0009109
Diaphragmatic eventration - HP:0009110
Aplasia of the left hemidiaphragm - HP:0009112
Diaphragmatic weakness - HP:0009113
Aplasia/hypoplasia involving the skeleton - HP:0009115
Aplasia/Hypoplasia involving bones of the skull - HP:0009116
Aplasia/Hypoplasia of the maxilla - HP:0009117
Aplasia/Hypoplasia of the mandible - HP:0009118
Aplasia/Hypoplasia of the frontal sinuses - HP:0009119
Aplasia/Hypoplasia involving the sinuses - HP:0009120
Abnormal axial skeleton morphology - HP:0009121
Aplasia/hypoplasia affecting bones of the axial skeleton - HP:0009122
Mixed hypo- and hyperpigmentation of the skin - HP:0009123
Abnormal adipose tissue morphology - HP:0009124
Lipodystrophy - HP:0009125
Increased adipose tissue - HP:0009126
Abnormality of the musculature of the limbs - HP:0009127
Aplasia/Hypoplasia involving the musculature of the extremities - HP:0009128
Upper limb amyotrophy - HP:0009129
Hand muscle atrophy - HP:0009130
Abnormality of the musculature of the thorax - HP:0009131
Abnormal tarsal bone mineral density - HP:0009132
Osteolysis involving bones of the feet - HP:0009134
Duplication involving bones of the feet - HP:0009136
Synostosis involving bones of the lower limbs - HP:0009138
Osteolysis involving bones of the lower limbs - HP:0009139
Synostosis involving bones of the feet - HP:0009140
Depletion of mitochondrial DNA in muscle tissue - HP:0009141
Duplication of bones involving the upper extremities - HP:0009142
Supernumerary bones of the axial skeleton - HP:0009144
Abnormal cerebral artery morphology - HP:0009145
Enlarged epiphysis of the distal phalanx of the 5th finger - HP:0009147
Small epiphysis of the distal phalanx of the 5th finger - HP:0009148
Triangular epiphysis of the distal phalanx of the 5th finger - HP:0009149
Abnormality of the proximal phalanx of the 5th finger - HP:0009150
Abnormality of the epiphyses of the 5th finger - HP:0009152
Abnormality of the epiphysis of the proximal phalanx of the 5th finger - HP:0009153
Triangular epiphysis of the proximal phalanx of the 5th finger - HP:0009154
Cone-shaped epiphysis of the proximal phalanx of the 5th finger - HP:0009155
Ivory epiphysis of the proximal phalanx of the 5th finger - HP:0009157
Enlarged epiphysis of the proximal phalanx of the 5th finger - HP:0009158
Small epiphysis of the proximal phalanx of the 5th finger - HP:0009159
Absent epiphysis of the proximal phalanx of the 5th finger - HP:0009160
Aplasia/Hypoplasia of the middle phalanx of the 5th finger - HP:0009161
Absent middle phalanx of 5th finger - HP:0009162
obsolete Abnormal form of the 5th finger - HP:0009163
Abnormal calcification of the carpal bones - HP:0009164
Stippling of the epiphysis of the distal phalanx of the 5th finger - HP:0009165
Fragmentation of the epiphysis of the distal phalanx of the 5th finger - HP:0009166
Irregular epiphysis of the distal phalanx of the 5th finger - HP:0009167
Bullet-shaped middle phalanx of the 5th finger - HP:0009168
Broad middle phalanx of the 5th finger - HP:0009169
Osteolytic defects of the middle phalanx of the 5th finger - HP:0009170
Triangular epiphyses of the metacarpals - HP:0009171
Abnormal 4th finger phalanx morphology - HP:0009172
Curved middle phalanx of the 5th finger - HP:0009173
Abnormality of the epiphyses of the 4th finger - HP:0009174
Patchy sclerosis of the middle phalanx of the 5th finger - HP:0009175
Proximal/middle symphalangism of 5th finger - HP:0009177
Symphalangism of middle phalanx of 5th finger - HP:0009178
Deviation of the 5th finger - HP:0009179
Ulnar deviation of the 5th finger - HP:0009180
Triangular shaped middle phalanx of the 5th finger - HP:0009182
Joint contracture of the 5th finger - HP:0009183
Contracture of the distal interphalangeal joint of the 5th finger - HP:0009184
Contracture of the proximal interphalangeal joint of the 5th finger - HP:0009185
Contracture of the metacarpophalangeal joint of the 5th finger - HP:0009186
Bracket epiphysis of the distal phalanx of the 5th finger - HP:0009187
Pseudoepiphysis of the distal phalanx of the 5th finger - HP:0009188
Fragmentation of the metacarpal epiphyses - HP:0009189
Irregular epiphyses of the metacarpals - HP:0009190
Ivory epiphyses of the metacarpals - HP:0009191
Aplasia/Hypoplasia of the proximal phalanx of the 5th finger - HP:0009192
Pseudoepiphyses of the metacarpals - HP:0009193
Small epiphyses of the metacarpals - HP:0009194
Epiphyseal stippling of the metacarpals - HP:0009195
Absent metacarpal epiphyses - HP:0009196
Bracket epiphysis of the proximal phalanx of the 5th finger - HP:0009197
Abnormality of the epiphysis of the distal phalanx of the 5th finger - HP:0009198
Irregular epiphysis of the proximal phalanx of the 5th finger - HP:0009199
Pseudoepiphysis of the proximal phalanx of the 5th finger - HP:0009200
Stippling of the epiphysis of the proximal phalanx of the 5th finger - HP:0009201
Fragmentation of the epiphysis of the proximal phalanx of the 5th finger - HP:0009202
Absent epiphysis of the middle phalanx of the 5th finger - HP:0009203
Bracket epiphysis of the middle phalanx of the 5th finger - HP:0009204
Cone-shaped epiphysis of the middle phalanx of the 5th finger - HP:0009205
Enlarged epiphysis of the middle phalanx of the 5th finger - HP:0009206
Fragmentation of the epiphysis of the middle phalanx of the 5th finger - HP:0009207
Irregular epiphysis of the middle phalanx of the 5th finger - HP:0009208
Ivory epiphysis of the middle phalanx of the 5th finger - HP:0009209
Pseudoepiphysis of the middle phalanx of the 5th finger - HP:0009210
Small epiphysis of the middle phalanx of the 5th finger - HP:0009211
Stippling of the epiphysis of the middle phalanx of the 5th finger - HP:0009212
Triangular epiphysis of the middle phalanx of the 5th finger - HP:0009213
Absent epiphysis of the middle phalanx of the 4th finger - HP:0009214
Bracket epiphysis of the middle phalanx of the 4th finger - HP:0009215
Cone-shaped epiphysis of the middle phalanx of the 4th finger - HP:0009216
Enlarged epiphysis of the middle phalanx of the 4th finger - HP:0009217
Fragmentation of the epiphysis of the middle phalanx of the 4th finger - HP:0009218
Irregular epiphysis of the middle phalanx of the 4th finger - HP:0009219
Ivory epiphysis of the middle phalanx of the 4th finger - HP:0009220
Pseudoepiphysis of the middle phalanx of the 4th finger - HP:0009221
Small epiphysis of the middle phalanx of the 4th finger - HP:0009222
Stippling of the epiphysis of the middle phalanx of the 4th finger - HP:0009223
Triangular epiphysis of the middle phalanx of the 4th finger - HP:0009224
Aplasia of the proximal phalanx of the 5th finger - HP:0009225
Short proximal phalanx of the 5th finger - HP:0009226
Broad proximal phalanx of the 5th finger - HP:0009227
Bullet-shaped proximal phalanx of the 5th finger - HP:0009228
Curved proximal phalanx of the 5th finger - HP:0009229
Osteolytic defects of the proximal phalanx of the 5th finger - HP:0009230
Patchy sclerosis of the proximal phalanx of the 5th finger - HP:0009231
Symphalangism affecting the proximal phalanx of the 5th finger - HP:0009232
Triangular shaped proximal phalanx of the 5th finger - HP:0009233
Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal - HP:0009234
Rhomboid or triangular shaped 5th finger proximal phalanx - HP:0009236
Short 5th finger - HP:0009237
Aplasia of the 5th finger - HP:0009238
Aplasia/Hypoplasia of the distal phalanx of the 5th finger - HP:0009239
Broad distal phalanx of the 5th finger - HP:0009240
Bullet-shaped distal phalanx of the 5th finger - HP:0009241
Osteolytic defects of the distal phalanx of the 5th finger - HP:0009242
Patchy sclerosis of the distal phalanx of the 5th finger - HP:0009243
Distal/middle symphalangism of 5th finger - HP:0009244
Triangular shaped distal phalanx of the 5th finger - HP:0009245
Aplasia of the distal phalanx of the 5th finger - HP:0009246
Abnormality of the epiphysis of the middle phalanx of the 4th finger - HP:0009247
Abnormality of the epiphysis of the proximal phalanx of the 4th finger - HP:0009248
Abnormality of the epiphysis of the distal phalanx of the 4th finger - HP:0009249
Absent epiphysis of the distal phalanx of the 4th finger - HP:0009250
Bracket epiphysis of the distal phalanx of the 4th finger - HP:0009251
Cone-shaped epiphysis of the distal phalanx of the 4th finger - HP:0009252
Enlarged epiphysis of the distal phalanx of the 4th finger - HP:0009253
Fragmentation of the epiphysis of the distal phalanx of the 4th finger - HP:0009254
Irregular epiphysis of the distal phalanx of the 4th finger - HP:0009255
Ivory epiphysis of the distal phalanx of the 4th finger - HP:0009256
Pseudoepiphysis of the distal phalanx of the 4th finger - HP:0009257
Small epiphysis of the distal phalanx of the 4th finger - HP:0009258
Stippling of the epiphysis of the distal phalanx of the 4th finger - HP:0009259
Triangular epiphysis of the distal phalanx of the 4th finger - HP:0009260
Absent epiphysis of the proximal phalanx of the 4th finger - HP:0009261
Bracket epiphysis of the proximal phalanx of the 4th finger - HP:0009262
Cone-shaped epiphysis of the proximal phalanx of the 4th finger - HP:0009263
Enlarged epiphysis of the proximal phalanx of the 4th finger - HP:0009264
Fragmentation of the epiphysis of the proximal phalanx of the 4th finger - HP:0009265
Irregular epiphysis of the proximal phalanx of the 4th finger - HP:0009266
Ivory epiphysis of the proximal phalanx of the 4th finger - HP:0009267
Pseudoepiphysis of the proximal phalanx of the 4th finger - HP:0009268
Small epiphysis of the proximal phalanx of the 4th finger - HP:0009269
Stippling of the epiphysis of the proximal phalanx of the 4th finger - HP:0009270
Triangular epiphysis of the proximal phalanx of the 4th finger - HP:0009271
Aplasia/Hypoplasia of the 4th finger - HP:0009272
Deviation of the 4th finger - HP:0009273
Joint contracture of the 4th finger - HP:0009274
Contracture of the distal interphalangeal joint of the 4th finger - HP:0009275
Contracture of the proximal interphalangeal joint of the 4th finger - HP:0009276
Contracture of the metacarpophalangeal joint of the 4th finger - HP:0009277
Ulnar deviation of the 4th finger - HP:0009278
Radial deviation of the 4th finger - HP:0009279
Short 4th finger - HP:0009280
Aplasia of the 4th finger - HP:0009281
Abnormality of the distal phalanx of the 4th finger - HP:0009282
Abnormality of the middle phalanx of the 4th finger - HP:0009283
Abnormality of the proximal phalanx of the 4th finger - HP:0009284
Curved phalanges of the 4th finger - HP:0009285
Curved distal phalanx of the 4th finger - HP:0009286
Curved middle phalanx of the 4th finger - HP:0009287
Curved proximal phalanx of the 4th finger - HP:0009288
Aplasia/Hypoplasia of the distal phalanx of the 4th finger - HP:0009289
Short distal phalanx of the 4th finger - HP:0009290
Aplasia of the distal phalanx of the 4th finger - HP:0009291
Broad distal phalanx of the 4th finger - HP:0009292
Broad middle phalanx of the 4th finger - HP:0009293
Absent middle phalanx of 4th finger - HP:0009294
Short middle phalanx of the 4th finger - HP:0009295
Bullet-shaped middle phalanx of the 4th finger - HP:0009296
Osteolytic defects of the middle phalanx of the 4th finger - HP:0009297
Aplasia of the proximal phalanx of the 4th finger - HP:0009298
Aplasia/Hypoplasia of the middle phalanx of the 4th finger - HP:0009299
Aplasia/Hypoplasia of the proximal phalanx of the 4th finger - HP:0009300
Short proximal phalanx of the 4th finger - HP:0009301
Bullet-shaped distal phalanx of the 4th finger - HP:0009302
Osteolytic defects of the distal phalanx of the 4th finger - HP:0009303
Patchy sclerosis of the distal phalanx of the 4th finger - HP:0009304
Distal/middle symphalangism of 4th finger - HP:0009305
Triangular shaped distal phalanx of the 4th finger - HP:0009306
Patchy sclerosis of the middle phalanx of the 4th finger - HP:0009307
Symphalangism of middle phalanx of 4th finger - HP:0009308
Triangular shaped middle phalanx of the 4th finger - HP:0009309
Broad proximal phalanx of the 4th finger - HP:0009310
Bullet-shaped proximal phalanx of the 4th finger - HP:0009311
Osteolytic defects of the proximal phalanx of the 4th finger - HP:0009312
Patchy sclerosis of the proximal phalanx of the 4th finger - HP:0009313
Symphalangism affecting the proximal phalanx of the 4th finger - HP:0009314
Triangular shaped proximal phalanx of the 4th finger - HP:0009315
Abnormal 3rd finger phalanx morphology - HP:0009316
Deviation of the 3rd finger - HP:0009317
Aplasia/Hypoplasia of the 3rd finger - HP:0009318
Joint contracture of the 3rd finger - HP:0009319
Abnormality of the epiphyses of the 3rd finger - HP:0009320
Absent epiphysis of the middle phalanx of the 3rd finger - HP:0009321
Bracket epiphysis of the middle phalanx of the 3rd finger - HP:0009322
Cone-shaped epiphysis of the middle phalanx of the 3rd finger - HP:0009323
Enlarged epiphysis of the middle phalanx of the 3rd finger - HP:0009324
Fragmentation of the epiphysis of the middle phalanx of the 3rd finger - HP:0009325
Irregular epiphysis of the middle phalanx of the 3rd finger - HP:0009326
Ivory epiphysis of the middle phalanx of the 3rd finger - HP:0009327
Pseudoepiphysis of the middle phalanx of the 3rd finger - HP:0009328
Small epiphysis of the middle phalanx of the 3rd finger - HP:0009329
Stippling of the epiphysis of the middle phalanx of the 3rd finger - HP:0009330
Triangular epiphysis of the middle phalanx of the 3rd finger - HP:0009331
Abnormality of the epiphysis of the distal phalanx of the 3rd finger - HP:0009332
Abnormality of the epiphysis of the proximal phalanx of the 3rd finger - HP:0009333
Abnormality of the epiphysis of the middle phalanx of the 3rd finger - HP:0009334
Absent epiphysis of the distal phalanx of the 3rd finger - HP:0009335
Bracket epiphysis of the distal phalanx of the 3rd finger - HP:0009336
Cone-shaped epiphysis of the distal phalanx of the 3rd finger - HP:0009337
Enlarged epiphysis of the distal phalanx of the 3rd finger - HP:0009338
Fragmentation of the epiphysis of the distal phalanx of the 3rd finger - HP:0009339
Irregular epiphysis of the distal phalanx of the 3rd finger - HP:0009340
Ivory epiphysis of the distal phalanx of the 3rd finger - HP:0009341
Pseudoepiphysis of the distal phalanx of the 3rd finger - HP:0009342
Small epiphysis of the distal phalanx of the 3rd finger - HP:0009343
Stippling of the epiphysis of the distal phalanx of the 3rd finger - HP:0009344
Triangular epiphysis of the distal phalanx of the 3rd finger - HP:0009345
Absent epiphysis of the proximal phalanx of the 3rd finger - HP:0009346
Bracket epiphysis of the proximal phalanx of the 3rd finger - HP:0009347
Cone-shaped epiphysis of the proximal phalanx of the 3rd finger - HP:0009348
Enlarged epiphysis of the proximal phalanx of the 3rd finger - HP:0009349
Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger - HP:0009350
Irregular epiphysis of the proximal phalanx of the 3rd finger - HP:0009351
Ivory epiphysis of the proximal phalanx of the 3rd finger - HP:0009352
Pseudoepiphysis of the proximal phalanx of the 3rd finger - HP:0009353
Small epiphysis of the proximal phalanx of the 3rd finger - HP:0009354
Stippling of the epiphysis of the proximal phalanx of the 3rd finger - HP:0009355
Triangular epiphysis of the proximal phalanx of the 3rd finger - HP:0009356
Abnormality of the distal phalanx of the 3rd finger - HP:0009357
Abnormality of the proximal phalanx of the 3rd finger - HP:0009358
Type A brachydactyly - HP:0009370
Type A1 brachydactyly - HP:0009371
Type A2 brachydactyly - HP:0009372
Type C brachydactyly - HP:0009373
Broad phalanges of the 5th finger - HP:0009374
Bullet-shaped phalanges of the 5th finger - HP:0009375
Aplasia/Hypoplasia of the phalanges of the 5th finger - HP:0009376
Patchy sclerosis of 5th finger phalanx - HP:0009377
Triangular shaped phalanges of the 5th finger - HP:0009378
Rhomboid or triangular shaped 5th finger distal phalanx - HP:0009379
Aplasia of the fingers - HP:0009380
Short finger - HP:0009381
Absent epiphyses of the 5th finger - HP:0009382
Bracket epiphyses of the 5th finger - HP:0009383
Cone-shaped epiphyses of the 5th finger - HP:0009384
Enlarged epiphyses of the 5th finger - HP:0009385
Fragmentation of the epiphyses of the 5th finger - HP:0009386
Irregular epiphyses of the 5th finger - HP:0009387
Ivory epiphyses of the 5th finger - HP:0009388
Pseudoepiphyses of the 5th finger - HP:0009389
Small epiphyses of the 5th finger - HP:0009390
Stippling of the epiphyses of the 5th finger - HP:0009391
Triangular epiphyses of the 5th finger - HP:0009392
Absent epiphyses of the 4th finger - HP:0009393
Bracket epiphyses of the 4th finger - HP:0009394
Cone-shaped epiphyses of the 4th finger - HP:0009395
Enlarged epiphyses of the 4th finger - HP:0009396
Fragmentation of the epiphyses of the 4th finger - HP:0009397
Irregular epiphyses of the 4th finger - HP:0009398
Ivory epiphyses of the 4th finger - HP:0009399
Pseudoepiphyses of the 4th finger - HP:0009400
Small epiphyses of the 4th finger - HP:0009401
Stippling of the epiphyses of the 4th finger - HP:0009402
Triangular epiphyses of the 4th finger - HP:0009403
Broad phalanges of the 4th finger - HP:0009404
Bullet-shaped phalanges of the 4th finger - HP:0009405
Patchy sclerosis of 4th finger phalanx - HP:0009406
Triangular shaped phalanges of the 4th finger - HP:0009407
Aplasia/Hypoplasia of the phalanges of the 4th finger - HP:0009408
Absent epiphyses of the 3rd finger - HP:0009410
Bracket epiphyses of the 3rd finger - HP:0009411
Cone-shaped epiphyses of the 3rd finger - HP:0009412
Enlarged epiphyses of the 3rd finger - HP:0009413
Fragmentation of the epiphyses of the 3rd finger - HP:0009414
Irregular epiphyses of the 3rd finger - HP:0009415
Ivory epiphyses of the 3rd finger - HP:0009416
Pseudoepiphyses of the 3rd finger - HP:0009417
Small epiphyses of the 3rd finger - HP:0009418
Stippling of the epiphyses of the 3rd finger - HP:0009419
Triangular epiphyses of the 3rd finger - HP:0009420
Aplasia/Hypoplasia of the distal phalanx of the 3rd finger - HP:0009421
Broad distal phalanx of the 3rd finger - HP:0009422
Bullet-shaped distal phalanx of the 3rd finger - HP:0009423
Osteolytic defects of the distal phalanx of the 3rd finger - HP:0009424
Patchy sclerosis of the distal phalanx of the 3rd finger - HP:0009425
Distal/middle symphalangism of 3rd finger - HP:0009426
Triangular shaped distal phalanx of the 3rd finger - HP:0009427
Curved distal phalanx of the 3rd finger - HP:0009428
Aplasia of the distal phalanx of the 3rd finger - HP:0009429
Broad middle phalanx of the 3rd finger - HP:0009430
Bullet-shaped middle phalanx of the 3rd finger - HP:0009431
Curved middle phalanx of the 3rd finger - HP:0009432
Osteolytic defects of the middle phalanx of the 3rd finger - HP:0009433
Patchy sclerosis of the middle phalanx of the 3rd finger - HP:0009434
Symphalangism of middle phalanx of 3rd finger - HP:0009435
Triangular shaped middle phalanx of the 3rd finger - HP:0009436
Aplasia/Hypoplasia of the middle phalanx of the 3rd finger - HP:0009437
Absent middle phalanx of 3rd finger - HP:0009438
Short middle phalanx of the 3rd finger - HP:0009439
Broad phalanges of the 3rd finger - HP:0009440
Bullet-shaped phalanges of the 3rd finger - HP:0009441
Curved phalanges of the 3rd finger - HP:0009442
Osteolytic defects of the phalanges of the 3rd finger - HP:0009443
Patchy sclerosis of 3rd finger phalanx - HP:0009444
Symphalangism of the 3rd finger - HP:0009445
Triangular shaped phalanges of the 3rd finger - HP:0009446
Aplasia/Hypoplasia of the phalanges of the 3rd finger - HP:0009447
obsolete Aplasia of the phalanges of the 3rd finger - HP:0009448
obsolete Hypoplastic/small phalanges of the 3rd finger - HP:0009449
Broad proximal phalanx of the 3rd finger - HP:0009450
Bullet-shaped proximal phalanx of the 3rd finger - HP:0009451
Curved proximal phalanx of the 3rd finger - HP:0009452
Osteolytic defects of the proximal phalanx of the 3rd finger - HP:0009453
Patchy sclerosis of the proximal phalanx of the 3rd finger - HP:0009454
Symphalangism affecting the proximal phalanx of the 3rd finger - HP:0009455
Triangular shaped proximal phalanx of the 3rd finger - HP:0009456
Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger - HP:0009457
Aplasia of the proximal phalanx of the 3rd finger - HP:0009458
Short proximal phalanx of the 3rd finger - HP:0009459
Aplasia of the 3rd finger - HP:0009460
Short 3rd finger - HP:0009461
Radial deviation of the 3rd finger - HP:0009462
Ulnar deviation of the 3rd finger - HP:0009463
Ulnar deviation of the 2nd finger - HP:0009464
Ulnar deviation of finger - HP:0009465
Radial deviation of finger - HP:0009466
Radial deviation of the 2nd finger - HP:0009467
Deviation of the 2nd finger - HP:0009468
Contracture of the distal interphalangeal joint of the 3rd finger - HP:0009469
Contracture of the metacarpophalangeal joint of the 3rd finger - HP:0009470
Contracture of the proximal interphalangeal joint of the 3rd finger - HP:0009471
Joint contracture of the hand - HP:0009473
Proximal/middle symphalangism of 4th finger - HP:0009477
Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal - HP:0009478
Proximal/middle symphalangism of 3rd finger - HP:0009482
Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal - HP:0009483
Deviation of the hand or of fingers of the hand - HP:0009484
Radial deviation of the hand or of fingers of the hand - HP:0009485
Radial deviation of the hand - HP:0009486
Ulnar deviation of the hand - HP:0009487
Absent epiphyses of the 2nd finger - HP:0009488
Bracket epiphyses of the 2nd finger - HP:0009489
Cone-shaped epiphyses of the 2nd finger - HP:0009490
Enlarged epiphyses of the 2nd finger - HP:0009491
Fragmentation of the epiphyses of the 2nd finger - HP:0009492
Irregular epiphyses of the 2nd finger - HP:0009493
Ivory epiphyses of the 2nd finger - HP:0009494
Pseudoepiphyses of the 2nd finger - HP:0009495
Small epiphyses of the 2nd finger - HP:0009496
Stippling of the epiphyses of the 2nd finger - HP:0009497
Triangular epiphyses of the 2nd finger - HP:0009498
Abnormality of the epiphysis of the distal phalanx of the 2nd finger - HP:0009499
Abnormality of the epiphysis of the middle phalanx of the 2nd finger - HP:0009500
Abnormality of the epiphysis of the proximal phalanx of the 2nd finger - HP:0009501
Absent epiphysis of the distal phalanx of the 2nd finger - HP:0009502
Bracket epiphysis of the distal phalanx of the 2nd finger - HP:0009503
Cone-shaped epiphysis of the distal phalanx of the 2nd finger - HP:0009504
Enlarged epiphysis of the distal phalanx of the 2nd finger - HP:0009505
Fragmentation of the epiphysis of the distal phalanx of the 2nd finger - HP:0009506
Irregular epiphysis of the distal phalanx of the 2nd finger - HP:0009507
Ivory epiphysis of the distal phalanx of the 2nd finger - HP:0009508
Pseudoepiphysis of the distal phalanx of the 2nd finger - HP:0009509
Small epiphysis of the distal phalanx of the 2nd finger - HP:0009510
Stippling of the epiphysis of the distal phalanx of the 2nd finger - HP:0009511
Triangular epiphysis of the distal phalanx of the 2nd finger - HP:0009512
Absent epiphysis of the middle phalanx of the 2nd finger - HP:0009513
Bracket epiphysis of the middle phalanx of the 2nd finger - HP:0009514
Cone-shaped epiphysis of the middle phalanx of the 2nd finger - HP:0009515
Enlarged epiphysis of the middle phalanx of the 2nd finger - HP:0009516
Fragmentation of the epiphysis of the middle phalanx of the 2nd finger - HP:0009517
Irregular epiphysis of the middle phalanx of the 2nd finger - HP:0009518
Ivory epiphysis of the middle phalanx of the 2nd finger - HP:0009519
Pseudoepiphysis of the middle phalanx of the 2nd finger - HP:0009520
Small epiphysis of the middle phalanx of the 2nd finger - HP:0009521
Stippling of the epiphysis of the middle phalanx of the 2nd finger - HP:0009522
Triangular epiphysis of the middle phalanx of the 2nd finger - HP:0009523
Absent epiphysis of the proximal phalanx of the 2nd finger - HP:0009524
Bracket epiphysis of the proximal phalanx of the 2nd finger - HP:0009525
Cone-shaped epiphysis of the proximal phalanx of the 2nd finger - HP:0009526
Enlarged epiphysis of the proximal phalanx of the 2nd finger - HP:0009527
Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger - HP:0009528
Irregular epiphysis of the proximal phalanx of the 2nd finger - HP:0009529
Ivory epiphysis of the proximal phalanx of the 2nd finger - HP:0009530
Pseudoepiphysis of the proximal phalanx of the 2nd finger - HP:0009531
Small epiphysis of the proximal phalanx of the 2nd finger - HP:0009532
Stippling of the epiphysis of the proximal phalanx of the 2nd finger - HP:0009533
Triangular epiphysis of the proximal phalanx of the 2nd finger - HP:0009534
Aplasia of the 2nd finger - HP:0009535
Short 2nd finger - HP:0009536
Flexion contracture of the 2nd finger - HP:0009537
Contracture of the distal interphalangeal joint of the 2nd finger - HP:0009538
Contracture of the metacarpophalangeal joint of the 2nd finger - HP:0009539
Contracture of the proximal interphalangeal joint of the 2nd finger - HP:0009540
Abnormality of the phalanges of the 2nd finger - HP:0009541
Abnormality of the distal phalanx of the 2nd finger - HP:0009542
Abnormality of the middle phalanx of the 2nd finger - HP:0009543
Abnormality of the proximal phalanx of the 2nd finger - HP:0009544
Symphalangism of the 2nd finger - HP:0009545
Triangular shaped phalanges of the 2nd finger - HP:0009546
Broad phalanges of the 2nd finger - HP:0009547
Bullet-shaped phalanges of the 2nd finger - HP:0009548
Curved phalanges of the 2nd finger - HP:0009549
Osteolytic defects of the phalanges of the 2nd finger - HP:0009550
Patchy sclerosis of 2nd finger phalanx - HP:0009551
Aplasia/Hypoplasia of the phalanges of the 2nd finger - HP:0009552
Abnormality of the hairline - HP:0009553
Preauricular hair displacement - HP:0009554
Hypoplasia of the pharynx - HP:0009555
Absent tibia - HP:0009556
Aplasia/Hypoplasia of the distal phalanx of the 2nd finger - HP:0009557
Broad distal phalanx of the 2nd finger - HP:0009558
Bullet-shaped distal phalanx of the 2nd finger - HP:0009559
Curved distal phalanx of the 2nd finger - HP:0009560
Osteolytic defects of the distal phalanx of the 2nd finger - HP:0009561
Patchy sclerosis of the distal phalanx of the 2nd finger - HP:0009562
Distal/middle symphalangism of 2nd finger - HP:0009563
Triangular shaped distal phalanx of the 2nd finger - HP:0009564
Aplasia of the distal phalanx of the 2nd finger - HP:0009565
Short distal phalanx of the 2nd finger - HP:0009566
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger - HP:0009568
Broad middle phalanx of the 2nd finger - HP:0009569
Bullet-shaped middle phalanx of the 2nd finger - HP:0009570
Curved middle phalanx of the 2nd finger - HP:0009571
Osteolytic defects of the middle phalanx of the 2nd finger - HP:0009572
Patchy sclerosis of the middle phalanx of the 2nd finger - HP:0009573
Symphalangism of middle phalanx of 2nd finger - HP:0009574
Triangular shaped middle phalanx of the 2nd finger - HP:0009575
Absent middle phalanx of 2nd finger - HP:0009576
Short middle phalanx of the 2nd finger - HP:0009577
Proximal/middle symphalangism of the 2nd finger - HP:0009579
Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger - HP:0009580
Broad proximal phalanx of the 2nd finger - HP:0009581
Bullet-shaped proximal phalanx of the 2nd finger - HP:0009582
Curved proximal phalanx of the 2nd finger - HP:0009583
Osteolytic defects of the proximal phalanx of the 2nd finger - HP:0009584
Patchy sclerosis of the proximal phalanx of the 2nd finger - HP:0009585
Symphalangism affecting the proximal phalanx of the 2nd finger - HP:0009586
Triangular shaped proximal phalanx of the 2nd finger - HP:0009587
Vestibular Schwannoma - HP:0009588
Bilateral vestibular Schwannoma - HP:0009589
Unilateral vestibular Schwannoma - HP:0009590
Abnormality of the vestibulocochlear nerve - HP:0009591
Astrocytoma - HP:0009592
Peripheral Schwannoma - HP:0009593
Retinal hamartoma - HP:0009594
Occasional neurofibromas - HP:0009595
Aplasia of the proximal phalanx of the 2nd finger - HP:0009596
Short proximal phalanx of the 2nd finger - HP:0009597
Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal - HP:0009598
Abnormality of thumb epiphysis - HP:0009599
Flexion contracture of thumb - HP:0009600
Aplasia/Hypoplasia of the thumb - HP:0009601
Abnormality of thumb phalanx - HP:0009602
Deviation of the thumb - HP:0009603
Complete duplication of distal phalanx of the thumb - HP:0009606
Complete duplication of proximal phalanx of the thumb - HP:0009608
Duplication of the 1st metacarpal - HP:0009609
Bifid distal phalanx of the thumb - HP:0009611
Duplication of the distal phalanx of the thumb - HP:0009612
Duplication of the proximal phalanx of the thumb - HP:0009613
Bifid proximal phalanx of the thumb - HP:0009614
Complete duplication of the first metacarpal - HP:0009615
Bifid first metacarpal - HP:0009616
Abnormality of the distal phalanx of the thumb - HP:0009617
Abnormality of the proximal phalanx of the thumb - HP:0009618
obsolete Radial deviation of the thumb - HP:0009620
obsolete Ulnar deviation of the thumb - HP:0009621
Distally placed thumb - HP:0009622
Proximal placement of thumb - HP:0009623
Contractures of the carpometacarpal joint of the thumb - HP:0009624
Contractures of the metacarpophalangeal joint of the thumb - HP:0009625
Contractures of the interphalangeal joint of the thumb - HP:0009626
Aplasia/Hypoplasia of the proximal phalanx of the thumb - HP:0009629
Broad proximal phalanx of the thumb - HP:0009630
Bullet-shaped proximal phalanx of the thumb - HP:0009631
Curved proximal phalanx of the thumb - HP:0009632
Osteolytic defect of the proximal phalanx of the thumb - HP:0009633
Patchy sclerosis of the proximal phalanx of the thumb - HP:0009634
Synostosis of thumb phalanx - HP:0009635
Triangular shaped proximal phalanx of the thumb - HP:0009636
Absent proximal phalanx of thumb - HP:0009637
Short proximal phalanx of thumb - HP:0009638
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal - HP:0009640
Aplasia/Hypoplasia of the distal phalanx of the thumb - HP:0009641
Broad distal phalanx of the thumb - HP:0009642
Bullet-shaped distal phalanx of the thumb - HP:0009643
Curved distal phalanx of the thumb - HP:0009644
Osteolytic defect of the distal phalanx of the thumb - HP:0009645
Patchy sclerosis of the distal phalanx of the thumb - HP:0009646
Triangular shaped distal phalanx of the thumb - HP:0009648
Aplasia of the distal phalanx of the thumb - HP:0009649
Short distal phalanx of the thumb - HP:0009650
Bullet-shaped thumb phalanx - HP:0009652
Curved thumb phalanx - HP:0009653
Osteolytic defect of thumb phalanx - HP:0009654
Patchy sclerosis of thumb phalanx - HP:0009655
Symphalangism of the thumb - HP:0009656
Triangular shaped thumb phalanx - HP:0009657
Aplasia/Hypoplasia of the phalanges of the thumb - HP:0009658
Partial absence of thumb - HP:0009659
Short phalanx of the thumb - HP:0009660
Abnormality of the epiphysis of the distal phalanx of the thumb - HP:0009662
Abnormality of the epiphysis of the proximal phalanx of the thumb - HP:0009663
Absent epiphysis of the proximal phalanx of the thumb - HP:0009664
Bracket epiphysis of the proximal phalanx of the thumb - HP:0009665
Cone-shaped epiphysis of the proximal phalanx of the thumb - HP:0009666
Enlarged epiphysis of the proximal phalanx of the thumb - HP:0009667
Fragmentation of the epiphysis of the proximal phalanx of the thumb - HP:0009668
Irregular epiphysis of the proximal phalanx of the thumb - HP:0009669
Ivory epiphysis of the proximal phalanx of the thumb - HP:0009670
Pseudoepiphysis of the proximal phalanx of the thumb - HP:0009671
Small epiphysis of the proximal phalanx of the thumb - HP:0009672
Stippling of the epiphysis of the proximal phalanx of the thumb - HP:0009673
Triangular epiphysis of the proximal phalanx of the thumb - HP:0009674
Absent epiphysis of the distal phalanx of the thumb - HP:0009675
Bracket epiphysis of the distal phalanx of the thumb - HP:0009676
Cone-shaped epiphysis of the distal phalanx of the thumb - HP:0009677
Enlarged epiphysis of the distal phalanx of the thumb - HP:0009678
Fragmentation of the epiphysis of the distal phalanx of the thumb - HP:0009679
Irregular epiphysis of the distal phalanx of the thumb - HP:0009680
Ivory epiphysis of the distal phalanx of the thumb - HP:0009681
Pseudoepiphysis of the distal phalanx of the thumb - HP:0009682
Small epiphysis of the distal phalanx of the thumb - HP:0009683
Stippling of the epiphysis of the distal phalanx of the thumb - HP:0009684
Triangular epiphysis of the distal phalanx of the thumb - HP:0009685
Absent epiphyses of the thumb - HP:0009686
Bracket epiphyses of the thumb - HP:0009687
Cone-shaped epiphysis of the thumb - HP:0009688
Enlarged thumb epiphysis - HP:0009689
Fragmentation of thumb epiphysis - HP:0009690
Irregular thumb epiphysis - HP:0009691
Ivory epiphysis of the thumb - HP:0009692
Pseudoepiphysis of the thumb - HP:0009693
Small thumb epiphysis - HP:0009694
Stippling of thumb epiphysis - HP:0009695
Triangular epiphyses of the thumb - HP:0009696
Contracture of the distal interphalangeal joint of the fingers - HP:0009697
Osteolytic defects of the hand bones - HP:0009699
Finger symphalangism - HP:0009700
Metacarpal synostosis - HP:0009701
Carpal synostosis - HP:0009702
Synostosis involving the 1st metacarpal - HP:0009703
Chronic CSF lymphocytosis - HP:0009704
Synostosis involving the 2nd metacarpal - HP:0009705
Synostosis involving the 3rd metacarpal - HP:0009706
Synostosis involving the 4th metacarpal - HP:0009707
Synostosis involving the 5th metacarpal - HP:0009708
Increased CSF interferon alpha - HP:0009709
Chilblains - HP:0009710
Retinal capillary hemangioma - HP:0009711
Spinal hemangioblastoma - HP:0009713
Abnormality of the epididymis - HP:0009714
Papillary cystadenoma of the epididymis - HP:0009715
Subependymal nodules - HP:0009716
Cortical tubers - HP:0009717
Subependymal giant-cell astrocytoma - HP:0009718
Hypomelanotic macule - HP:0009719
Adenoma sebaceum - HP:0009720
Shagreen patch - HP:0009721
Dental enamel pits - HP:0009722
Abnormality of the subungual region - HP:0009723
Subungual fibromas - HP:0009724
Bladder neoplasm - HP:0009725
Renal neoplasm - HP:0009726
Achromatic retinal patches - HP:0009727
Neoplasm of striated muscle - HP:0009728
Cardiac rhabdomyoma - HP:0009729
Rhabdomyoma - HP:0009730
Cerebral hamartoma - HP:0009731
Plexiform neurofibroma - HP:0009732
Glioma - HP:0009733
Optic nerve glioma - HP:0009734
Spinal neurofibromas - HP:0009735
Tibial pseudoarthrosis - HP:0009736
Lisch nodules - HP:0009737
Abnormality of the antihelix - HP:0009738
Hypoplasia of the antihelix - HP:0009739
Aplasia of the parotid gland - HP:0009740
Nephrosclerosis - HP:0009741
Stiff shoulders - HP:0009742
Distichiasis - HP:0009743
Abnormal spinal dura mater morphology - HP:0009744
Spinalarachnoid cyst - HP:0009745
Thick nasal septum - HP:0009746
Lumbosacral hirsutism - HP:0009747
Large earlobe - HP:0009748
Aplasia of the pectoralis major muscle - HP:0009751
Cleft in skull base - HP:0009752
Fibrous syngnathia - HP:0009754
Ankyloblepharon - HP:0009755
Popliteal pterygium - HP:0009756
Intercrural pterygium - HP:0009757
Pyramidal skinfold extending from the base to the top of the nails - HP:0009758
Neck pterygia - HP:0009759
Antecubital pterygium - HP:0009760
Anterior clefting of vertebral bodies - HP:0009761
Facial wrinkling - HP:0009762
Limb pain - HP:0009763
Low hanging columella - HP:0009765
Aplasia/Hypoplasia of the phalanges of the hand - HP:0009767
Broad phalanges of the hand - HP:0009768
Bullet-shaped phalanges of the hand - HP:0009769
Curved phalanges of the hand - HP:0009770
Osteolytic defects of the phalanges of the hand - HP:0009771
Patchy sclerosis of finger phalanx - HP:0009772
Symphalangism affecting the phalanges of the hand - HP:0009773
Triangular shaped phalanges of the hand - HP:0009774
Amniotic constriction ring - HP:0009775
Adactyly - HP:0009776
Absent thumb - HP:0009777
Short thumb - HP:0009778
3-4 toe syndactyly - HP:0009779
Iliac horns - HP:0009780
Lester's sign - HP:0009781
Aplasia/Hypoplasia of the biceps - HP:0009782
Biceps aplasia - HP:0009783
Aplasia/Hypoplasia of the triceps - HP:0009784
Triceps aplasia - HP:0009785
Aplasia/Hypoplasia of the musculature of the thigh - HP:0009786
Aplasia/Hypoplasia of the quadriceps - HP:0009787
Quadriceps aplasia - HP:0009788
Perianal abscess - HP:0009789
Hemisacrum - HP:0009790
Bifid sacrum - HP:0009791
Teratoma - HP:0009792
Presacral teratoma - HP:0009793
Branchial anomaly - HP:0009794
Branchial fistula - HP:0009795
Branchial cyst - HP:0009796
Cholesteatoma - HP:0009797
Euthyroid goiter - HP:0009798
Supernumerary spleens - HP:0009799
Maternal diabetes - HP:0009800
Aplasia of the phalanges of the hand - HP:0009802
Short phalanx of finger - HP:0009803
Reduced number of teeth - HP:0009804
Low-output congestive heart failure - HP:0009805
Nephrogenic diabetes insipidus - HP:0009806
Anomaly of the upper limb diaphyses - HP:0009808
Abnormality of upper limb metaphysis - HP:0009809
Abnormality of upper limb joint - HP:0009810
Abnormality of the elbow - HP:0009811
Amelia involving the upper limbs - HP:0009812
Upper limb phocomelia - HP:0009813
Upper limb peromelia - HP:0009814
Aplasia/hypoplasia of the extremities - HP:0009815
Lower limb undergrowth - HP:0009816
Aplasia involving bones of the lower limbs - HP:0009817
Amelia involving the lower limbs - HP:0009818
Lower limb phocomelia - HP:0009819
Lower limb peromelia - HP:0009820
Forearm undergrowth - HP:0009821
Aplasia involving forearm bones - HP:0009822
Aplasia involving bones of the upper limbs - HP:0009823
Upper limb undergrowth - HP:0009824
Aplasia involving bones of the extremities - HP:0009825
Limb undergrowth - HP:0009826
Amelia - HP:0009827
Peromelia - HP:0009828
Phocomelia - HP:0009829
Peripheral neuropathy - HP:0009830
Mononeuropathy - HP:0009831
Abnormal distal phalanx morphology of finger - HP:0009832
Abnormal middle phalanx morphology of the hand - HP:0009833
Abnormal proximal phalanx morphology of the hand - HP:0009834
Aplasia/Hypoplasia of the distal phalanges of the hand - HP:0009835
Broad distal phalanx of finger - HP:0009836
Bullet-shaped distal phalanges of the hand - HP:0009837
Curved distal phalanges of the hand - HP:0009838
Osteolytic defects of the distal phalanges of the hand - HP:0009839
Patchy sclerosis of distal phalanx of finger - HP:0009840
Aplasia/Hypoplasia of the middle phalanges of the hand - HP:0009843
Broad middle phalanx of finger - HP:0009844
Bullet-shaped middle phalanges of the hand - HP:0009845
Curved middle phalanges of the hand - HP:0009846
Osteolytic defects of the middle phalanges of the hand - HP:0009847
Patchy sclerosis of middle phalanx of finger - HP:0009848
Symphalangism of middle phalanx of finger - HP:0009849
Triangular shaped middle phalanges of the hand - HP:0009850
Aplasia/Hypoplasia of the proximal phalanges of the hand - HP:0009851
Broad proximal phalanges of the hand - HP:0009852
Bullet-shaped proximal phalanges of the hand - HP:0009853
Curved proximal phalanges of the hand - HP:0009854
Osteolytic defects of the proximal phalanges of the hand - HP:0009855
Patchy sclerosis of proximal phalanx of finger - HP:0009856
Symphalangism affecting the proximal phalanges of the hand - HP:0009857
Triangular shaped proximal phalanges of the hand - HP:0009858
Triangular shaped distal phalanges of the hand - HP:0009875
Cerebellar ataxia associated with quadrupedal gait - HP:0009878
Simplified gyral pattern - HP:0009879
Broad distal phalanges of all fingers - HP:0009880
Aplasia of the distal phalanges of the hand - HP:0009881
Short distal phalanx of finger - HP:0009882
Duplication of the distal phalanx of hand - HP:0009883
Tapered distal phalanges of finger - HP:0009884
obsolete Prenatal short stature - HP:0009885
Trichorrhexis nodosa - HP:0009886
Abnormality of hair pigmentation - HP:0009887
Abnormality of secondary sexual hair - HP:0009888
Localized hirsutism - HP:0009889
High anterior hairline - HP:0009890
Underdeveloped supraorbital ridges - HP:0009891
Anotia - HP:0009892
Telangiectasia of the ear - HP:0009893
Thickened ears - HP:0009894
Abnormality of the crus of the helix - HP:0009895
Abnormality of the antitragus - HP:0009896
Horizontal crus of helix - HP:0009897
Underdeveloped crus of the helix - HP:0009898
Prominent crus of helix - HP:0009899
Unilateral deafness - HP:0009900
Crumpled ear - HP:0009901
Cleft helix - HP:0009902
Conjunctival nodule - HP:0009903
Prominent ear helix - HP:0009904
Thin ear helix - HP:0009905
Aplasia/Hypoplasia of the earlobes - HP:0009906
Attached earlobe - HP:0009907
Anterior creases of earlobe - HP:0009908
Uplifted earlobe - HP:0009909
Aplasia of the middle ear ossicles - HP:0009910
Abnormal temporal bone morphology - HP:0009911
Abnormality of the tragus - HP:0009912
Aplasia/Hypoplasia of the tragus - HP:0009913
Cyclopia - HP:0009914
Corneal asymmetry - HP:0009915
Anisocoria - HP:0009916
Persistent pupillary membrane - HP:0009917
Ectopia pupillae - HP:0009918
Retinoblastoma - HP:0009919
Nevus of Ota - HP:0009920
Duane anomaly - HP:0009921
Vascular remnant arising from the disc - HP:0009922
Aplasia/Hypoplasia involving the nose - HP:0009924
Epiphora - HP:0009926
Aplasia of the nose - HP:0009927
Thick nasal alae - HP:0009928
Abnormality of the columella - HP:0009929
Asymmetry of the nares - HP:0009930
Enlarged naris - HP:0009931
Single naris - HP:0009932
Narrow naris - HP:0009933
Supernumerary naris - HP:0009934
Aplasia/Hypoplasia of the nasal septum - HP:0009935
Narrow nasal septum - HP:0009936
Facial hirsutism - HP:0009937
Sunken cheeks - HP:0009938
Mandibular aplasia - HP:0009939
Asymmetry of the mandible - HP:0009940
Asymmetry of the mouth - HP:0009941
Duplication of thumb phalanx - HP:0009942
Complete duplication of thumb phalanx - HP:0009943
Partial duplication of thumb phalanx - HP:0009944
Duplication of phalanx of 2nd finger - HP:0009945
Polydactyly affecting the 2nd finger - HP:0009946
Duplication of the proximal phalanx of the 2nd finger - HP:0009947
Duplication of the distal phalanx of the 2nd finger - HP:0009948
Duplication of the middle phalanx of the 2nd finger - HP:0009949
Complete duplication of the distal phalanx of the 2nd finger - HP:0009950
Partial duplication of the distal phalanx of the 2nd finger - HP:0009951
Complete duplication of the middle phalanx of the 2nd finger - HP:0009952
Partial duplication of the middle phalanx of the 2nd finger - HP:0009953
Complete duplication of the proximal phalanx of the 2nd finger - HP:0009954
Partial duplication of the proximal phalanx of the 2nd finger - HP:0009955
Partial duplication of the phalanges of the 2nd finger - HP:0009956
Complete duplication of the phalanges of the 2nd finger - HP:0009957
Polydactyly affecting the 3rd finger - HP:0009958
Duplication of phalanx of 3rd finger - HP:0009959
Complete duplication of the phalanges of the 3rd finger - HP:0009960
Partial duplication of the phalanges of the 3rd finger - HP:0009961
Duplication of the distal phalanx of the 3rd finger - HP:0009962
Duplication of the middle phalanx of the 3rd finger - HP:0009963
Duplication of the proximal phalanx of the 3rd finger - HP:0009964
Complete duplication of the distal phalanx of the 3rd finger - HP:0009965
Complete duplication of the middle phalanx of the 3rd finger - HP:0009966
Complete duplication of the proximal phalanx of the 3rd finger - HP:0009967
Partial duplication of the distal phalanx of the 3rd finger - HP:0009968
Partial duplication of the middle phalanx of the 3rd finger - HP:0009969
Partial duplication of the proximal phalanx of the 3rd finger - HP:0009970
Polydactyly affecting the 4th finger - HP:0009971
Duplication of phalanx of 4th finger - HP:0009972
Complete duplication of the phalanges of the 4th finger - HP:0009973
Partial duplication of the phalanges of the 4th finger - HP:0009974
Duplication of the distal phalanx of the 4th finger - HP:0009975
Duplication of the middle phalanx of the 4th finger - HP:0009976
Duplication of the proximal phalanx of the 4th finger - HP:0009977
Complete duplication of the distal phalanx of the 4th finger - HP:0009978
Complete duplication of the middle phalanx of the 4th finger - HP:0009979
Complete duplication of the proximal phalanx of the 4th finger - HP:0009980
Partial duplication of the distal phalanx of the 4th finger - HP:0009981
Partial duplication of the middle phalanx of the 4th finger - HP:0009982
Partial duplication of the proximal phalanx of the 4th finger - HP:0009983
Duplication of phalanx of 5th finger - HP:0009985
Complete duplication of the phalanges of the 5th finger - HP:0009986
Partial duplication of the phalanges of the 5th finger - HP:0009987
Duplication of the distal phalanx of the 5th finger - HP:0009988
Duplication of the middle phalanx of the 5th finger - HP:0009989
Duplication of the proximal phalanx of the 5th finger - HP:0009990
Complete duplication of the distal phalanx of the 5th finger - HP:0009991
Complete duplication of the middle phalanx of the 5th finger - HP:0009992
Complete duplication of the proximal phalanx of the 5th finger - HP:0009993
Partial duplication of the distal phalanx of the 5th finger - HP:0009994
Partial duplication of the middle phalanx of the 5th finger - HP:0009995
Partial duplication of the proximal phalanx of the 5th finger - HP:0009996
Duplication of phalanx of hand - HP:0009997
Complete duplication of phalanx of hand - HP:0009998
Partial duplication of the phalanx of hand - HP:0009999
Complete duplication of the proximal phalanges of the hand - HP:0010000
Complete duplication of the distal phalanges of the hand - HP:0010001
Complete duplication of the middle phalanges of the hand - HP:0010002
Partial duplication of the proximal phalanges of the hand - HP:0010003
Partial duplication of the distal phalanges of the hand - HP:0010004
Partial duplication of the middle phalanges of the hand - HP:0010005
Duplication of the proximal phalanx of hand - HP:0010006
Duplication of the middle phalanx of hand - HP:0010008
Abnormality of the 1st metacarpal - HP:0010009
Abnormality of the 2nd metacarpal - HP:0010010
Abnormality of the 3rd metacarpal - HP:0010011
Abnormality of the 4th metacarpal - HP:0010012
Abnormality of the 5th metacarpal - HP:0010013
Abnormality of the epiphysis of the 1st metacarpal - HP:0010014
Absent epiphysis of the 1st metacarpal - HP:0010015
Bracket epiphysis of the 1st metacarpal - HP:0010016
Cone-shaped epiphysis of the 1st metacarpal - HP:0010017
Enlarged epiphysis of the 1st metacarpal - HP:0010018
Fragmentation of the epiphysis of the 1st metacarpal - HP:0010019
Irregular epiphysis of the 1st metacarpal - HP:0010020
Ivory epiphysis of the 1st metacarpal - HP:0010021
Pseudoepiphysis of the 1st metacarpal - HP:0010022
Small epiphysis of the 1st metacarpal - HP:0010023
Epiphyseal stippling of the first metacarpal - HP:0010024
Triangular epiphysis of the 1st metacarpal - HP:0010025
Aplasia/Hypoplasia of the 1st metacarpal - HP:0010026
Broad 1st metacarpal - HP:0010027
Bullet-shaped 1st metacarpal - HP:0010028
Curved 1st metacarpal - HP:0010029
Osteolytic defects of the 1st metacarpal - HP:0010030
Patchy sclerosis of the 1st metacarpal - HP:0010031
Triangular shaped 1st metacarpal - HP:0010033
Short 1st metacarpal - HP:0010034
Aplasia of the 1st metacarpal - HP:0010035
Aplasia/Hypoplasia of the 2nd metacarpal - HP:0010036
Aplasia of the 2nd metacarpal - HP:0010037
Short 2nd metacarpal - HP:0010038
Aplasia/Hypoplasia of the 3rd metacarpal - HP:0010039
Aplasia of the 3rd metacarpal - HP:0010040
Short 3rd metacarpal - HP:0010041
Aplasia/Hypoplasia of the 4th metacarpal - HP:0010042
Aplasia of the 4th metacarpal - HP:0010043
Short 4th metacarpal - HP:0010044
Aplasia/Hypoplasia of the 5th metacarpal - HP:0010045
Aplasia of the 5th metacarpal - HP:0010046
Short 5th metacarpal - HP:0010047
Aplasia of metacarpal bones - HP:0010048
Short metacarpal - HP:0010049
Deviation of the hallux - HP:0010051
Abnormal morphology of the proximal phalanx of the hallux - HP:0010052
Abnormality of the distal phalanx of the hallux - HP:0010053
Abnormality of the first metatarsal bone - HP:0010054
Broad hallux - HP:0010055
Abnormality of the epiphyses of the hallux - HP:0010056
Abnormality of the phalanges of the hallux - HP:0010057
Aplasia/Hypoplasia of the phalanges of the hallux - HP:0010058
Broad hallux phalanx - HP:0010059
Bullet-shaped hallux phalanx - HP:0010060
Curved hallux phalanx - HP:0010061
Osteolytic defects of the phalanges of the hallux - HP:0010062
Patchy sclerosis of hallux phalanx - HP:0010063
Symphalangism affecting the phalanges of the hallux - HP:0010064
Triangular shaped phalanges of the hallux - HP:0010065
Duplication of phalanx of hallux - HP:0010066
Aplasia/hypoplasia of the 1st metatarsal - HP:0010067
Broad first metatarsal - HP:0010068
Bullet-shaped 1st metatarsal - HP:0010069
Curved 1st metatarsal - HP:0010070
Osteolytic defects of the 1st metatarsal - HP:0010071
Patchy sclerosis of the 1st metatarsal - HP:0010072
Synostosis involving the 1st metatarsal - HP:0010073
Triangular shaped 1st metatarsal - HP:0010074
Duplication of the 1st metatarsal - HP:0010075
Aplasia/Hypoplasia of the distal phalanx of the hallux - HP:0010076
Broad distal phalanx of the hallux - HP:0010077
Bullet-shaped distal phalanx of the hallux - HP:0010078
Curved distal phalanx of the hallux - HP:0010079
Osteolytic defects of the distal phalanx of the hallux - HP:0010080
Patchy sclerosis of the distal phalanx of the hallux - HP:0010081
Symphalangism affecting the distal phalanx of the hallux - HP:0010082
Triangular shaped distal phalanx of the hallux - HP:0010083
Duplication of the distal phalanx of the hallux - HP:0010084
Aplasia/Hypoplasia of the proximal phalanx of the hallux - HP:0010085
Broad proximal phalanx of the hallux - HP:0010086
Bullet-shaped proximal phalanx of the hallux - HP:0010087
Curved proximal phalanx of the hallux - HP:0010088
Osteolytic defects of the proximal phalanx of the hallux - HP:0010089
Patchy sclerosis of the proximal phalanx of the hallux - HP:0010090
Symphalangism affecting the proximal phalanx of the hallux - HP:0010091
Triangular shaped proximal phalanx of the hallux - HP:0010092
Duplication of the proximal phalanx of the hallux - HP:0010093
Complete duplication of the proximal phalanx of the hallux - HP:0010094
Partial duplication of the proximal phalanx of the hallux - HP:0010095
Complete duplication of the distal phalanx of the hallux - HP:0010096
Partial duplication of the distal phalanx of the hallux - HP:0010097
Complete duplication of the 1st metatarsal - HP:0010098
Partial duplication of the 1st metatarsal - HP:0010099
Complete duplication of hallux phalanx - HP:0010100
Partial duplication of the phalanges of the hallux - HP:0010101
Aplasia of the distal phalanx of the hallux - HP:0010102
Short distal phalanx of hallux - HP:0010103
Absent first metatarsal - HP:0010104
Short first metatarsal - HP:0010105
Aplasia of the proximal phalanx of the hallux - HP:0010106
Short proximal phalanx of hallux - HP:0010107
Short hallux - HP:0010109
Aplasia of the phalanges of the hallux - HP:0010110
Short phalanx of hallux - HP:0010111
Mesoaxial foot polydactyly - HP:0010112
Absent hallux epiphysis - HP:0010113
Bracket epiphyses of the hallux - HP:0010114
Cone-shaped epiphyses of the hallux - HP:0010115
Enlarged epiphyses of the hallux - HP:0010116
Fragmentation of the epiphyses of the hallux - HP:0010117
Irregular epiphyses of the hallux - HP:0010118
Ivory epiphyses of the hallux - HP:0010119
Pseudoepiphyses of the hallux - HP:0010120
Small epiphyses of the hallux - HP:0010121
Stippling of the epiphyses of the hallux - HP:0010122
Triangular epiphyses of the hallux - HP:0010123
Abnormality of the epiphysis of the distal phalanx of the hallux - HP:0010124
Abnormality of the epiphysis of the 1st metatarsal - HP:0010125
Abnormality of the epiphysis of the proximal phalanx of the hallux - HP:0010126
Absent epiphysis of the proximal phalanx of the hallux - HP:0010127
Bracket epiphysis of the proximal phalanx of the hallux - HP:0010128
Cone-shaped epiphysis of the proximal phalanx of the hallux - HP:0010129
Enlarged epiphysis of the proximal phalanx of the hallux - HP:0010130
Fragmentation of the epiphysis of the proximal phalanx of the hallux - HP:0010131
Irregular epiphysis of the proximal phalanx of the hallux - HP:0010132
Ivory epiphysis of the proximal phalanx of the hallux - HP:0010133
Pseudoepiphysis of the proximal phalanx of the hallux - HP:0010134
Small epiphysis of the proximal phalanx of the hallux - HP:0010135
Stippling of the epiphysis of the proximal phalanx of the hallux - HP:0010136
Triangular epiphysis of the proximal phalanx of the hallux - HP:0010137
Absent epiphysis of the distal phalanx of the hallux - HP:0010138
Bracket epiphysis of the distal phalanx of the hallux - HP:0010139
Cone-shaped epiphysis of the distal phalanx of the hallux - HP:0010140
Enlarged epiphysis of the distal phalanx of the hallux - HP:0010141
Fragmentation of the epiphysis of the distal phalanx of the hallux - HP:0010142
Irregular epiphysis of the distal phalanx of the hallux - HP:0010143
Ivory epiphysis of the distal phalanx of the hallux - HP:0010144
Pseudoepiphysis of the distal phalanx of the hallux - HP:0010145
Small epiphysis of the distal phalanx of the hallux - HP:0010146
Stippling of the epiphysis of the distal phalanx of the hallux - HP:0010147
Triangular epiphysis of the distal phalanx of the hallux - HP:0010148
Absent epiphysis of the 1st metatarsal - HP:0010149
Bracket epiphysis of the 1st metatarsal - HP:0010150
Cone-shaped epiphysis of the 1st metatarsal - HP:0010151
Enlarged epiphysis of the 1st metatarsal - HP:0010152
Fragmentation of the epiphysis of the 1st metatarsal - HP:0010153
Irregular epiphysis of the 1st metatarsal - HP:0010154
Ivory epiphysis of the 1st metatarsal - HP:0010155
Pseudoepiphysis of the 1st metatarsal - HP:0010156
Small epiphysis of the 1st metatarsal - HP:0010157
Stippling of the epiphysis of the 1st metatarsal - HP:0010158
Triangular epiphysis of the 1st metatarsal - HP:0010159
Abnormality of the epiphyses of the toes - HP:0010160
Abnormality of the phalanges of the toes - HP:0010161
Absent epiphyses of the toes - HP:0010162
Bracket epiphyses of the toes - HP:0010163
Cone-shaped epiphyses of the toes - HP:0010164
Enlarged epiphyses of the toes - HP:0010165
Fragmentation of the epiphyses of the toes - HP:0010166
Irregular epiphyses of the toes - HP:0010167
Ivory epiphyses of the toes - HP:0010168
Pseudoepiphyses of the toes - HP:0010169
Small epiphyses of the toes - HP:0010170
Epiphyseal stippling of toe phalanges - HP:0010171
Triangular epiphyses of the toes - HP:0010172
Aplasia/Hypoplasia of the phalanges of the toes - HP:0010173
Broad phalanx of the toes - HP:0010174
Bullet-shaped toe phalanx - HP:0010175
Curved toe phalanx - HP:0010176
Osteolytic defects of the phalanges of the toes - HP:0010177
Patchy sclerosis of toe phalanx - HP:0010178
Symphalangism affecting the phalanges of the toes - HP:0010179
Triangular shaped phalanges of the toes - HP:0010180
Duplication of phalanx of toe - HP:0010181
Abnormality of the distal phalanges of the toes - HP:0010182
Abnormality of the middle phalanges of the toes - HP:0010183
Abnormality of toe proximal phalanx - HP:0010184
Aplasia/Hypoplasia of the distal phalanges of the toes - HP:0010185
Broad distal phalanx of the toes - HP:0010186
Bullet-shaped distal toe phalanx - HP:0010187
Curved distal toe phalanx - HP:0010188
Osteolytic defects of the distal phalanges of the toes - HP:0010189
Patchy sclerosis of distal toe phalanx - HP:0010190
Symphalangism affecting the distal phalanges of the toes - HP:0010191
Triangular shaped distal phalanges of the toes - HP:0010192
Duplication of distal phalanx of toe - HP:0010193
Aplasia/Hypoplasia of the middle phalanges of the toes - HP:0010194
Broad middle phalanges of the toes - HP:0010195
Bullet-shaped middle toe phalanx - HP:0010196
Curved middle toe phalanx - HP:0010197
Osteolytic defects of the middle phalanges of the toes - HP:0010198
Patchy sclerosis of middle toe phalanx - HP:0010199
Symphalangism affecting the middle phalanges of the toes - HP:0010200
Triangular shaped middle phalanges of the toes - HP:0010201
Duplication of middle phalanx of toe - HP:0010202
Aplasia/hypoplasia of proximal toe phalanx - HP:0010203
Broad proximal phalanx of toe - HP:0010204
Bullet-shaped proximal toe phalanx - HP:0010205
Curved proximal toe phalanx - HP:0010206
Osteolytic defect of the proximal toe phalanx - HP:0010207
Patchy sclerosis of proximal toe phalanx - HP:0010208
Symphalangism affecting the proximal phalanges of the toes - HP:0010209
Triangular shaped proximal phalanges of the toes - HP:0010210
Duplication of proximal phalanx of toe - HP:0010211
Flexion contracture of the hallux - HP:0010212
Contracture of the tarsometatarsal joint of the hallux - HP:0010213
Contracture of the interphalangeal joint of the hallux - HP:0010214
Contractures of the metatarsophalangeal joint of the hallux - HP:0010215
Structural foot deformity - HP:0010219
Abnormality of the epiphysis of the 2nd metacarpal - HP:0010220
obsolete Pseudoepiphysis of the 2nd metacarpal - HP:0010221
Abnormality of the epiphysis of the 3rd metacarpal - HP:0010222
Pseudoepiphysis of the 3rd metacarpal - HP:0010223
Abnormality of the epiphysis of the 4th metacarpal - HP:0010224
Pseudoepiphysis of the 4th metacarpal - HP:0010225
Abnormality of the epiphysis of the 5th metacarpal - HP:0010226
Pseudoepiphysis of the 5th metacarpal - HP:0010227
Absent epiphyses of the phalanges of the hand - HP:0010228
Bracket epiphyses of the phalanges of the hand - HP:0010229
Cone-shaped epiphyses of the phalanges of the hand - HP:0010230
Enlarged epiphyses of the phalanges of the hand - HP:0010231
Fragmentation of the epiphyses of the phalanges of the hand - HP:0010232
Irregular epiphyses of the phalanges of the hand - HP:0010233
Ivory epiphyses of the phalanges of the hand - HP:0010234
Pseudoepiphyses of the phalanges of the hand - HP:0010235
Small epiphyses of the phalanges of the hand - HP:0010236
Epiphyseal stippling of finger phalanges - HP:0010237
Triangular epiphyses of the phalanges of the hand - HP:0010238
Aplasia of the middle phalanx of the hand - HP:0010239
Short proximal phalanx of finger - HP:0010241
Aplasia of the proximal phalanges of the hand - HP:0010242
Abnormality of the epiphyses of the distal phalanx of finger - HP:0010243
Abnormality of the epiphyses of the middle phalanges of the hand - HP:0010244
Abnormality of the epiphyses of the proximal phalanges of the hand - HP:0010245
Absent epiphyses of the distal phalanges of the hand - HP:0010246
Bracket epiphyses of the distal phalanges of the hand - HP:0010247
Cone-shaped epiphyses of the distal phalanges of the hand - HP:0010248
Enlarged epiphyses of the distal phalanges of the hand - HP:0010249
Fragmentation of the epiphyses of the distal phalanges of the hand - HP:0010250
Irregular epiphyses of the distal phalanges of the hand - HP:0010251
Ivory epiphyses of the distal phalanges of the hand - HP:0010252
Pseudoepiphyses of the distal phalanges of the hand - HP:0010253
Small epiphyses of the distal phalanges of the hand - HP:0010254
Stippling of the epiphyses of the distal phalanges of the hand - HP:0010255
Triangular epiphyses of the distal phalanges of the hand - HP:0010256
Absent epiphyses of the middle phalanges of the hand - HP:0010257
Bracket epiphyses of the middle phalanges of the hand - HP:0010258
Cone-shaped epiphyses of the middle phalanges of the hand - HP:0010259
Enlarged epiphyses of the middle phalanges of the hand - HP:0010260
Fragmentation of the epiphyses of the middle phalanges of the hand - HP:0010261
Irregular epiphyses of the middle phalanges of the hand - HP:0010262
Ivory epiphyses of the middle phalanges of the hand - HP:0010263
Pseudoepiphyses of the middle phalanges of the hand - HP:0010264
Small epiphyses of the middle phalanges of the hand - HP:0010265
Stippling of the epiphyses of the middle phalanges of the hand - HP:0010266
Triangular epiphyses of the middle phalanges of the hand - HP:0010267
Absent epiphyses of the proximal phalanges of the hand - HP:0010268
Bracket epiphyses of the proximal phalanges of the hand - HP:0010269
Cone-shaped epiphyses of the proximal phalanges of the hand - HP:0010270
Enlarged epiphyses of the proximal phalanges of the hand - HP:0010271
Fragmentation of the epiphyses of the proximal phalanges of the hand - HP:0010272
Irregular epiphyses of the proximal phalanges of the hand - HP:0010273
Ivory epiphyses of the proximal phalanges of the hand - HP:0010274
Pseudoepiphyses of the proximal phalanges of the hand - HP:0010275
Small epiphyses of the proximal phalanges of the hand - HP:0010276
Stippling of the epiphyses of the proximal phalanges of the hand - HP:0010277
Triangular epiphyses of the proximal phalanges of the hand - HP:0010278
Stomatitis - HP:0010280
Cleft lower lip - HP:0010281
Thin lower lip vermilion - HP:0010282
Intra-oral hyperpigmentation - HP:0010284
Oral synechia - HP:0010285
Abnormal salivary gland morphology - HP:0010286
Abnormality of the submandibular glands - HP:0010287
Abnormality of the sublingual glands - HP:0010288
Cleft of alveolar ridge of maxilla - HP:0010289
Short hard palate - HP:0010290
Prominent palatine ridges - HP:0010291
Absent uvula - HP:0010292
Aplasia/Hypoplasia of the uvula - HP:0010293
Palate fistula - HP:0010294
Aplasia/Hypoplasia of the tongue - HP:0010295
Ankyloglossia - HP:0010296
Bifid tongue - HP:0010297
Smooth tongue - HP:0010298
Abnormality of dentin - HP:0010299
Abnormally low-pitched voice - HP:0010300
Spinal dysraphism - HP:0010301
Spinal cord tumor - HP:0010302
Abnormal spinal meningeal morphology - HP:0010303
Spinal meningeal diverticulum - HP:0010304
Absence of the sacrum - HP:0010305
Short thorax - HP:0010306
Stridor - HP:0010307
Asternia - HP:0010308
Bifid sternum - HP:0010309
Chylothorax - HP:0010310
Aplasia/Hypoplasia of the breasts - HP:0010311
Asymmetry of the breasts - HP:0010312
Breast hypertrophy - HP:0010313
Premature thelarche - HP:0010314
Aplasia/Hypoplasia of the diaphragm - HP:0010315
Ebstein anomaly of the tricuspid valve - HP:0010316
Scapular aplasia - HP:0010317
Aplasia/Hypoplasia of the abdominal wall musculature - HP:0010318
Abnormality of the 2nd toe - HP:0010319
Abnormality of the 3rd toe - HP:0010320
Abnormality of the 4th toe - HP:0010321
Abnormality of the 5th toe - HP:0010322
Abnormality of the epiphyses of the 2nd toe - HP:0010323
Abnormality of phalanx of the 2nd toe - HP:0010324
Aplasia/Hypoplasia of the 2nd toe - HP:0010325
Deviation of the 2nd toe - HP:0010326
Flexion contracture of the 2nd toe - HP:0010327
Polydactyly affecting the 2nd toe - HP:0010328
Abnormality of the epiphyses of the 3rd toe - HP:0010329
Abnormality of the phalanges of the 3rd toe - HP:0010330
Aplasia/Hypoplasia of the 3rd toe - HP:0010331
Deviation of the 3rd toe - HP:0010332
Flexion contracture of 3rd toe - HP:0010333
Polydactyly affecting the 3rd toe - HP:0010334
Abnormality of the epiphyses of the 4th toe - HP:0010335
Abnormality of the phalanges of the 4th toe - HP:0010336
Aplasia/Hypoplasia of the 4th toe - HP:0010337
Deviation of the 4th toe - HP:0010338
Flexion contracture of the 4th toe - HP:0010339
Polydactyly affecting the 4th toe - HP:0010340
Abnormality of the epiphyses of the 5th toe - HP:0010341
Abnormality of the phalanges of the 5th toe - HP:0010342
Aplasia/Hypoplasia of the 5th toe - HP:0010343
Deviation of the 5th toe - HP:0010344
Flexion contracture of the 5th toe - HP:0010345
Aplasia/Hypoplasia of the phalanges of the 2nd toe - HP:0010347
Broad phalanges of the 2nd toe - HP:0010348
Bullet-shaped 2nd toe phalanx - HP:0010349
Curved 2nd toe phalanx - HP:0010350
Osteolytic defects of the phalanges of the 2nd toe - HP:0010351
Patchy sclerosis of 2nd toe phalanx - HP:0010352
Symphalangism affecting the phalanges of the 2nd toe - HP:0010353
Triangular shaped phalanges of the 2nd toe - HP:0010354
Duplication of the phalanges of the 2nd toe - HP:0010355
Abnormality of the distal phalanx of the 2nd toe - HP:0010356
Abnormality of the middle phalanx of the 2nd toe - HP:0010357
Abnormality of the proximal phalanx of the 2nd toe - HP:0010358
Aplasia/Hypoplasia of the phalanges of the 3rd toe - HP:0010359
Broad phalanges of the 3rd toe - HP:0010360
Bullet-shaped 3rd toe phalanx - HP:0010361
Curved 3rd toe phalanx - HP:0010362
Osteolytic defects of the phalanges of the 3rd toe - HP:0010363
Patchy sclerosis of 3rd toe phalanx - HP:0010364
Symphalangism affecting the phalanges of the 3rd toe - HP:0010365
Triangular shaped phalanges of the 3rd toe - HP:0010366
Duplication of phalanx of the 3rd toe - HP:0010367
Abnormality of the distal phalanx of the 3rd toe - HP:0010368
Abnormality of the middle phalanx of the 3rd toe - HP:0010369
Abnormality of the proximal phalanx of the 3rd toe - HP:0010370
Aplasia/Hypoplasia of the phalanges of the 4th toe - HP:0010371
Broad phalanges of the 4th toe - HP:0010372
Bullet-shaped 4th toe phalanx - HP:0010373
Curved 4th toe phalanx - HP:0010374
Osteolytic defects of the phalanges of the 4th toe - HP:0010375
Patchy sclerosis of 4th toe phalanx - HP:0010376
Symphalangism affecting the phalanges of the 4th toe - HP:0010377
Triangular shaped phalanges of the 4th toe - HP:0010378
Duplication of phalanx of the 4th toe - HP:0010379
Abnormality of the distal phalanx of the 4th toe - HP:0010380
Abnormality of the middle phalanx of the 4th toe - HP:0010381
Abnormality of the proximal phalanx of the 4th toe - HP:0010382
Aplasia/Hypoplasia of the phalanges of the 5th toe - HP:0010383
Broad phalanges of the 5th toe - HP:0010384
Bullet-shaped 5th toe phalanx - HP:0010385
Curved 5th toe phalanx - HP:0010386
Osteolytic defects of the phalanges of the 5th toe - HP:0010387
Patchy sclerosis of 5th toe phalanx - HP:0010388
Symphalangism affecting the phalanges of the 5th toe - HP:0010389
Triangular shaped phalanges of the 5th toe - HP:0010390
Duplication of the phalanges of the 5th toe - HP:0010391
Abnormality of the distal phalanx of the 5th toe - HP:0010392
Abnormality of the middle phalanx of the 5th toe - HP:0010393
Abnormality of the proximal phalanx of the 5th toe - HP:0010394
Aplasia/hypoplasia of the proximal phalanx of the 2nd toe - HP:0010395
Broad proximal phalanx of the 2nd toe - HP:0010396
Bullet-shaped proximal phalanx of the 2nd toe - HP:0010397
Curved proximal phalanx of the 2nd toe - HP:0010398
Osteolytic defects of the proximal phalanx of the 2nd toe - HP:0010399
Patchy sclerosis of the proximal phalanx of the 2nd toe - HP:0010400
Symphalangism affecting the proximal phalanx of the 2nd toe - HP:0010401
Triangular shaped proximal phalanx of the 2nd toe - HP:0010402
Duplication of the proximal phalanx of the 2nd toe - HP:0010403
Aplasia/Hypoplasia of the middle phalanx of the 2nd toe - HP:0010404
Broad middle phalanx of the 2nd toe - HP:0010405
Bullet-shaped middle phalanx of the 2nd toe - HP:0010406
Curved middle phalanx of the 2nd toe - HP:0010407
Osteolytic defects of the middle phalanx of the 2nd toe - HP:0010408
Patchy sclerosis of the middle phalanx of the 2nd toe - HP:0010409
Symphalangism affecting the middle phalanx of the 2nd toe - HP:0010410
Triangular shaped middle phalanx of the 2nd toe - HP:0010411
Duplication of the middle phalanx of the 2nd toe - HP:0010412
Aplasia/Hypoplasia of the distal phalanx of the 2nd toe - HP:0010413
Broad distal phalanx of the 2nd toe - HP:0010414
Bullet-shaped distal phalanx of the 2nd toe - HP:0010415
Curved distal phalanx of the 2nd toe - HP:0010416
Osteolytic defects of the distal phalanx of the 2nd toe - HP:0010417
Patchy sclerosis of the distal phalanx of the 2nd toe - HP:0010418
Symphalangism affecting the distal phalanx of the 2nd toe - HP:0010419
Triangular shaped distal phalanx of the 2nd toe - HP:0010420
Duplication of the distal phalanx of the 2nd toe - HP:0010421
Complete duplication of the proximal phalanx of the 2nd toe - HP:0010422
Partial duplication of the proximal phalanx of the 2nd toe - HP:0010423
Complete duplication of the distal phalanx of the 2nd toe - HP:0010424
Partial duplication of the distal phalanx of the 2nd toe - HP:0010425
Complete duplication of the middle phalanx of the 2nd toe - HP:0010426
Partial duplication of the middle phalanx of the 2nd toe - HP:0010427
Partial duplication of phalanx of the 2nd toe - HP:0010428
Complete duplication of the phalanges of the 2nd toe - HP:0010429
Aplasia of the phalanges of the 2nd toe - HP:0010430
Short phalanx of the 2nd toe - HP:0010431
Absent distal phalanx of the 2nd toe - HP:0010432
Short distal phalanx of the 2nd toe - HP:0010433
Aplasia of the middle phalanx of the 2nd toe - HP:0010434
Short middle phalanx of the 2nd toe - HP:0010435
Aplasia of the proximal phalanx of the 2nd toe - HP:0010436
Short proximal phalanx of the 2nd toe - HP:0010437
Abnormal ventricular septum morphology - HP:0010438
Ectopic accesory toe-like appendage - HP:0010440
Ectopic accessory finger-like appendage - HP:0010441
Polydactyly - HP:0010442
Bifid femur - HP:0010443
Pulmonary insufficiency - HP:0010444
Primum atrial septal defect - HP:0010445
Tricuspid stenosis - HP:0010446
Anal fistula - HP:0010447
Colonic atresia - HP:0010448
Esophageal stenosis - HP:0010450
Aplasia/Hypoplasia of the spleen - HP:0010451
Ectopia of the spleen - HP:0010452
Pelvic bone asymmetry - HP:0010453
Acetabular spurs - HP:0010454
Steep acetabular roof - HP:0010455
Abnormal greater sciatic notch morphology - HP:0010456
obsolete Widening of the sacrosciatic notch - HP:0010457
Female pseudohermaphroditism - HP:0010458
True hermaphroditism - HP:0010459
Abnormality of the female genitalia - HP:0010460
Abnormality of the male genitalia - HP:0010461
Aplasia/Hypoplasia of the ovary - HP:0010462
Aplasia of the ovary - HP:0010463
Streak ovary - HP:0010464
Precocious puberty in females - HP:0010465
Aplasia/Hypoplasia of the testes - HP:0010468
Absent testis - HP:0010469
Supernumerary testes - HP:0010470
Oligosacchariduria - HP:0010471
Abnormal circulating porphyrin concentration - HP:0010472
Porphyrinuria - HP:0010473
Bladder stones - HP:0010474
Cloacal exstrophy - HP:0010475
Aplasia/Hypoplasia of the bladder - HP:0010476
Aplasia of the bladder - HP:0010477
Abnormality of the urachus - HP:0010478
Patent urachus - HP:0010479
Urethral fistula - HP:0010480
Urethral valve - HP:0010481
Acromelia of the upper limbs - HP:0010482
Amniotic constriction rings of arms - HP:0010483
Hypertrophy of the upper limb - HP:0010484
Hyperextensibility at elbow - HP:0010485
Abnormality of the hypothenar eminence - HP:0010486
Small hypothenar eminence - HP:0010487
Aplasia/Hypoplasia of the palmar creases - HP:0010488
Absent palmar crease - HP:0010489
Abnormality of the palmar creases - HP:0010490
Digital constriction ring - HP:0010491
Osseous finger syndactyly - HP:0010492
Long metacarpals - HP:0010493
Acromelia of the lower limbs - HP:0010494
Amniotic constriction rings of legs - HP:0010495
Hypertrophy of the lower limb - HP:0010496
Sirenomelia - HP:0010497
Bipartite patella - HP:0010498
Patellar subluxation - HP:0010499
Hyperextensibility of the knee - HP:0010500
Limitation of knee mobility - HP:0010501
Fibular bowing - HP:0010502
Fibular duplication - HP:0010503
Increased length of the tibia - HP:0010504
Limitation of movement at ankles - HP:0010505
Abnormal plantar dermatoglyphics - HP:0010506
Foot asymmetry - HP:0010507
Metatarsus valgus - HP:0010508
Aplasia of the tarsal bones - HP:0010509
Hypermobility of toe joints - HP:0010510
Long toe - HP:0010511
Adrenal calcification - HP:0010512
Pituitary calcification - HP:0010513
Hyperpituitarism - HP:0010514
Aplasia/Hypoplasia of the thymus - HP:0010515
Thymus hyperplasia - HP:0010516
Ectopic thymus tissue - HP:0010517
Thyroglossal cyst - HP:0010518
Increased fetal movement - HP:0010519
Gait apraxia - HP:0010521
Dyslexia - HP:0010522
Alexia - HP:0010523
Agnosia - HP:0010524
Finger agnosia - HP:0010525
Dysgraphia - HP:0010526
Astereognosia - HP:0010527
Prosopagnosia - HP:0010528
Echolalia - HP:0010529
Palatal myoclonus - HP:0010530
Spinal myoclonus - HP:0010531
Paroxysmal vertigo - HP:0010532
Spasmus nutans - HP:0010533
Transient global amnesia - HP:0010534
Sleep apnea - HP:0010535
Central sleep apnea - HP:0010536
Wide cranial sutures - HP:0010537
Small sella turcica - HP:0010538
Thin calvarium - HP:0010539
Advanced pneumatization of cranial sinuses - HP:0010540
Cutis gyrata of scalp - HP:0010541
Vestibular nystagmus - HP:0010542
Opsoclonus - HP:0010543
Vertical nystagmus - HP:0010544
Downbeat nystagmus - HP:0010545
Muscle fibrillation - HP:0010546
Muscle flaccidity - HP:0010547
Percussion myotonia - HP:0010548
Weakness due to upper motor neuron dysfunction - HP:0010549
Paraplegia - HP:0010550
Paraplegia/paraparesis - HP:0010551
Oculogyric crisis - HP:0010553
Cutaneous finger syndactyly - HP:0010554
Overlapping fingers - HP:0010557
Abnormality of the clivus - HP:0010558
Vertical clivus - HP:0010559
Undulate clavicles - HP:0010560
Undulate ribs - HP:0010561
Keloids - HP:0010562
Bifid epiglottis - HP:0010564
Aplasia/Hypoplasia of the Epiglottis - HP:0010565
Hamartoma - HP:0010566
Y-shaped metatarsals - HP:0010567
Hamartoma of the eye - HP:0010568
Elevated 7-dehydrocholesterol - HP:0010569
Low maternal serum alpha-fetoprotein - HP:0010570
Elevated levels of phytanic acid - HP:0010571
Abnormality of the epiphysis of the femoral head - HP:0010574
Dysplasia of the femoral head - HP:0010575
Intracranial cystic lesion - HP:0010576
Absent epiphyses - HP:0010577
Bracket epiphyses - HP:0010578
Cone-shaped epiphysis - HP:0010579
Enlarged epiphyses - HP:0010580
Irregular epiphyses - HP:0010582
Ivory epiphyses - HP:0010583
Pseudoepiphyses - HP:0010584
Small epiphyses - HP:0010585
Triangular epiphyses - HP:0010587
Premature epimetaphyseal fusion - HP:0010588
Abnormality of the distal femoral epiphysis - HP:0010590
Abnormality of the proximal tibial epiphysis - HP:0010591
Abnormality of the distal tibial epiphysis - HP:0010592
Abnormality of fibular epiphyses - HP:0010593
Abnormality of the proximal fibular epiphysis - HP:0010594
Abnormality of the distal fibular epiphysis - HP:0010595
Abnormality of the proximal radial epiphysis - HP:0010596
Abnormality of the distal radial epiphysis - HP:0010597
Abnormality of the proximal humeral epiphysis - HP:0010598
Abnormality of the distal humeral epiphysis - HP:0010599
Abnormality of the distal ulnar epiphysis - HP:0010600
Abnormality of the proximal ulnar epiphysis - HP:0010601
Type 2 muscle fiber predominance - HP:0010602
Odontogenic keratocysts of the jaw - HP:0010603
Cyst of the eyelid - HP:0010604
Chalazion - HP:0010605
Hordeolum - HP:0010606
Hordeolum externum - HP:0010607
Hordeolum internum - HP:0010608
Skin tags - HP:0010609
Palmar pits - HP:0010610
Plantar pits - HP:0010612
Fibroma - HP:0010614
Angiofibromas - HP:0010615
Lung fibroma - HP:0010616
Cardiac fibroma - HP:0010617
Ovarian fibroma - HP:0010618
Fibroadenoma of the breast - HP:0010619
Malar prominence - HP:0010620
Cutaneous syndactyly of toes - HP:0010621
Neoplasm of the skeletal system - HP:0010622
Aplastic/hypoplastic toenail - HP:0010624
Anterior pituitary dysgenesis - HP:0010625
Anterior pituitary agenesis - HP:0010626
Anterior pituitary hypoplasia - HP:0010627
Facial palsy - HP:0010628
Abnormal morphology of the cortex of the humerus - HP:0010629
Abnormality of metatarsal epiphysis - HP:0010630
Abnormality of the epiphyses of the feet - HP:0010631
Total anosmia - HP:0010632
Partial anosmia - HP:0010633
Total hyposmia - HP:0010634
Partial hyposmia - HP:0010635
Schizencephaly - HP:0010636
Conjunctival amyloidosis - HP:0010637
Elevated alkaline phosphatase of hepatic origin - HP:0010638
Elevated alkaline phosphatase of bone origin - HP:0010639
Abnormality of the nasal cavity - HP:0010640
Abnormality of the midnasal cavity - HP:0010641
Midnasal atresia - HP:0010643
Midnasal stenosis - HP:0010644
Aplasia of the distal phalanges of the toes - HP:0010645
Cervical spine instability - HP:0010646
Abnormal elasticity of skin - HP:0010647
Dermal translucency - HP:0010648
Flat nasal alae - HP:0010649
Hypoplasia of the premaxilla - HP:0010650
Abnormal meningeal morphology - HP:0010651
Abnormal dura mater morphology - HP:0010652
Abnormality of the falx cerebri - HP:0010653
Aplasia of the falx cerebri - HP:0010654
Epiphyseal stippling - HP:0010655
Abnormal epiphyseal ossification - HP:0010656
Patchy reduction of bone mineral density - HP:0010657
Patchy changes of bone mineral density - HP:0010658
Patchy variation in bone mineral density - HP:0010659
Abnormal hand bone ossification - HP:0010660
Absence of the third cerebral ventricle - HP:0010661
Abnormality of the diencephalon - HP:0010662
Abnormality of thalamus morphology - HP:0010663
Fusion of the left and right thalami - HP:0010664
Bilateral coxa valga - HP:0010665
Hypoplasia of the anterior nasal spine - HP:0010666
Aplasia of the maxilla - HP:0010667
Abnormality of the zygomatic bone - HP:0010668
Hypoplasia of the zygomatic bone - HP:0010669
Abnormality of the third metatarsal bone - HP:0010672
Abnormality of the curvature of the vertebral column - HP:0010674
Abnormal foot bone ossification - HP:0010675
Mechanical ileus - HP:0010676
Enuresis nocturna - HP:0010677
Enuresis diurna - HP:0010678
Elevated tissue non-specific alkaline phosphatase - HP:0010679
Elevated alkaline phosphatase of renal origin - HP:0010680
Elevated intestinal alkaline phosphatase - HP:0010681
Elevated placental alkaline phosphatase - HP:0010682
Low tissue non-specific alkaline phosphatase - HP:0010683
Low alkaline phosphatase of bone origin - HP:0010684
Low alkaline phosphatase of renal origin - HP:0010685
Low alkaline phosphatase of hepatic origin - HP:0010686
Low intestinal alkaline phosphatase - HP:0010687
Low placental alkaline phosphatase - HP:0010688
Mirror image polydactyly - HP:0010689
Mirror image hand polydactyly - HP:0010690
Mirror image foot polydactyly - HP:0010691
2-5 finger syndactyly - HP:0010692
Pulverulent cataract - HP:0010693
Lamellar pulverulent cataract - HP:0010694
Sutural cataract - HP:0010695
Polar cataract - HP:0010696
Anterior pyramidal cataract - HP:0010697
Nuclear pulverulent cataract - HP:0010698
Triangular nuclear cataract - HP:0010699
obsolete Total cataract - HP:0010700
Abnormal immunoglobulin level - HP:0010701
Increased antibody level in blood - HP:0010702
1-2 finger syndactyly - HP:0010704
4-5 finger syndactyly - HP:0010705
1-3 finger syndactyly - HP:0010706
1-4 finger syndactyly - HP:0010707
1-5 finger syndactyly - HP:0010708
2-4 finger syndactyly - HP:0010709
3-5 finger syndactyly - HP:0010710
1-2 toe syndactyly - HP:0010711
1-4 toe syndactyly - HP:0010712
1-5 toe syndactyly - HP:0010713
2-4 toe syndactyly - HP:0010714
2-5 toe syndactyly - HP:0010715
3-5 toe syndactyly - HP:0010716
Osseous syndactyly of toes - HP:0010717
Abnormality of hair texture - HP:0010719
Abnormal hair pattern - HP:0010720
Abnormal hair whorl - HP:0010721
Asymmetry of the ears - HP:0010722
Cystic lesions of the pinnae - HP:0010723
Advanced pneumatization of the mastoid process - HP:0010724
Prominent corneal nerve fibers - HP:0010726
Spontaneous rupture of the globe - HP:0010727
Aplasia of the retina - HP:0010728
Cherry red spot of the macula - HP:0010729
Double eyebrow - HP:0010730
Extension of eyebrows towards upper eyelid - HP:0010731
Nodular changes affecting the eyelids - HP:0010732
Naevus flammeus of the eyelid - HP:0010733
Fibrous dysplasia of the bones - HP:0010734
Polyostotic fibrous dysplasia - HP:0010735
Monostotic fibrous dysplasia - HP:0010736
Osteopoikilosis - HP:0010739
Osteopathia striata - HP:0010740
Pedal edema - HP:0010741
Edema of the upper limbs - HP:0010742
Short metatarsal - HP:0010743
Absent metatarsal bone - HP:0010744
Aplasia of the phalanges of the toes - HP:0010745
Hypoplasia of the phalanges of the toes - HP:0010746
Medial flaring of the eyebrow - HP:0010747
Ectopic lacrimal punctum - HP:0010748
Blepharochalasis - HP:0010749
Dermatochalasis - HP:0010750
Dimple chin - HP:0010751
Cleft mandible - HP:0010752
Midline defect of mandible - HP:0010753
Abnormality of the temporomandibular joint - HP:0010754
Asymmetry of the maxilla - HP:0010755
Aplasia/Hypoplasia of the premaxilla - HP:0010756
Aplasia of the premaxilla - HP:0010757
Abnormality of the premaxilla - HP:0010758
Prominence of the premaxilla - HP:0010759
Absent toe - HP:0010760
Broad columella - HP:0010761
Chordoma - HP:0010762
Low insertion of columella - HP:0010763
Short eyelashes - HP:0010764
Palmar hyperkeratosis - HP:0010765
Ectopic calcification - HP:0010766
Sacrococcygeal pilonidal abnormality - HP:0010767
Pilonidal sinus - HP:0010769
Pilonidal fistula - HP:0010770
Pilonidal abscess - HP:0010771
Anomalous pulmonary venous return - HP:0010772
Partial anomalous pulmonary venous return - HP:0010773
Cor triatriatum - HP:0010774
Vascular ring - HP:0010775
Tracheobronchmegaly - HP:0010776
Bronchomegaly - HP:0010777
Tracheomegaly - HP:0010778
Large pelvis bone - HP:0010779
Hyperacusis - HP:0010780
Skin dimple - HP:0010781
Shoulder dimple - HP:0010782
Erythema - HP:0010783
Uterine neoplasm - HP:0010784
Gonadal neoplasm - HP:0010785
Urinary tract neoplasm - HP:0010786
Genital neoplasm - HP:0010787
Testicular neoplasm - HP:0010788
Abnormality of the Leydig cells - HP:0010789
Hyoplasia of the Leydig cells - HP:0010790
Hyperplasia of the Leydig cells - HP:0010791
Bifid nail - HP:0010793
Impaired visuospatial constructive cognition - HP:0010794
Cerebellar glioma - HP:0010795
Brainstem glioma - HP:0010796
Hemangioblastoma - HP:0010797
Lip freckle - HP:0010798
Pinealoma - HP:0010799
Absent cupid's bow - HP:0010800
Underdeveloped nasolabial fold - HP:0010801
Perioral hyperpigmentation - HP:0010802
Everted upper lip vermilion - HP:0010803
Tented upper lip vermilion - HP:0010804
Upturned corners of mouth - HP:0010805
U-Shaped upper lip vermilion - HP:0010806
Open bite - HP:0010807
Protruding tongue - HP:0010808
Broad uvula - HP:0010809
Long uvula - HP:0010810
Narrow uvula - HP:0010811
Short uvula - HP:0010812
Abnormal number of hair whorls - HP:0010813
Abnormal position of hair whorl - HP:0010814
Nevus sebaceous - HP:0010815
Epidermal nevus - HP:0010816
Linear nevus sebaceous - HP:0010817
Generalized tonic seizure - HP:0010818
Atonic seizure - HP:0010819
Focal emotional seizure with crying - HP:0010820
Focal emotional seizure with laughing - HP:0010821
Scintillating scotoma - HP:0010822
Ridged cranial sutures - HP:0010823
Abnormal fifth cranial nerve morphology - HP:0010824
Abnormality of the eleventh cranial nerve - HP:0010825
Abnormality of the twelfth cranial nerve - HP:0010826
Abnormality of the seventh cranial nerve - HP:0010827
Hemifacial spasm - HP:0010828
Impaired temperature sensation - HP:0010829
Impaired tactile sensation - HP:0010830
Impaired proprioception - HP:0010831
Abnormality of pain sensation - HP:0010832
Spontaneous pain sensation - HP:0010833
Trophic changes related to pain - HP:0010834
Dissociated sensory loss - HP:0010835
Abnormal circulating copper concentration - HP:0010836
Decreased serum ceruloplasmin - HP:0010837
High nonceruloplasmin-bound serum copper - HP:0010838
Increased urinary copper concentration - HP:0010839
Multifocal epileptiform discharges - HP:0010841
EEG with focal slow activity - HP:0010843
EEG with multifocal slow activity - HP:0010844
EEG with generalized slow activity - HP:0010845
EEG with persistent abnormal rhythmic activity - HP:0010846
EEG with spike-wave complexes (<2.5 Hz) - HP:0010847
EEG with spike-wave complexes (2.5-3.5 Hz) - HP:0010848
EEG with spike-wave complexes (>3.5 Hz) - HP:0010849
EEG with spike-wave complexes - HP:0010850
EEG with burst suppression - HP:0010851
EEG with photoparoxysmal response - HP:0010852
EEG with periodic lateralized epileptiform discharges - HP:0010853
EEG with generalized low amplitude activity - HP:0010854
EEG with localized low amplitude activity - HP:0010855
EEG with periodic complexes - HP:0010856
EEG with periodic abnormalities - HP:0010857
EEG with hyperventilation-induced epileptiform discharges - HP:0010858
Frank breech presentation - HP:0010859
Complete breech presentation - HP:0010860
Incomplete breech presentation - HP:0010861
Delayed fine motor development - HP:0010862
Receptive language delay - HP:0010863
Intellectual disability, severe - HP:0010864
Oppositional defiant disorder - HP:0010865
Abdominal wall defect - HP:0010866
Dyssynergia - HP:0010867
Ocular dyssynergia - HP:0010868
Asynergia - HP:0010869
Sensory ataxia - HP:0010871
T-wave inversion - HP:0010872
Cervical spinal cord atrophy - HP:0010873
Tendon xanthomatosis - HP:0010874
Chaddock reflex - HP:0010875
Abnormal circulating protein level - HP:0010876
Monocular strabismus - HP:0010877
Fetal cystic hygroma - HP:0010878
Postnatal cystic hygroma - HP:0010879
Increased nuchal translucency - HP:0010880
Abnormality of the umbilical cord - HP:0010881
Pulmonary valve atresia - HP:0010882
Aortic valve atresia - HP:0010883
Acromelia - HP:0010884
Avascular necrosis - HP:0010885
Osteochondritis Dissecans - HP:0010886
Morbus Koehler - HP:0010888
Morbus Kienboeck - HP:0010889
Morbus Osgood-Schlatter - HP:0010890
Morbus Scheuermann - HP:0010891
Abnormal circulating branched chain amino acid concentration - HP:0010892
Abnormal circulating phenylalanine concentration - HP:0010893
Abnormal circulating serine family amino acid concentration - HP:0010894
Abnormal circulating glycine concentration - HP:0010895
Hypersarcosinemia - HP:0010896
Hypersarcosinuria - HP:0010897
Abnormal circulating sarcosine concentration - HP:0010898
Abnormal circulating aspartate family amino acid concentration - HP:0010899
Abnormal circulating threonine concentration - HP:0010900
Abnormal circulating methionine concentration - HP:0010901
Abnormal circulating glutamine family amino acid concentration - HP:0010902
Abnormal circulating glutamine concentration - HP:0010903
Abnormal circulating histidine concentration - HP:0010904
obsolete Abnormality of histidine metabolism - HP:0010905
Hyperhistidinemia - HP:0010906
Abnormal circulating proline concentration - HP:0010907
Abnormal circulating lysine concentration - HP:0010908
Abnormal circulating arginine concentration - HP:0010909
Hypervalinemia - HP:0010910
Hyperleucinemia - HP:0010911
Abnormal circulating isoleucine concentration - HP:0010912
Hyperisoleucinemia - HP:0010913
Abnormal circulating valine concentration - HP:0010914
Abnormal circulating pyruvate family amino acid concentration - HP:0010915
Abnormal circulating alanine concentration - HP:0010916
Abnormal circulating tyrosine concentration - HP:0010917
Abnormal circulating cysteine concentration - HP:0010918
Abnormal circulating homocysteine concentration - HP:0010919
Zonular cataract - HP:0010920
Coralliform cataract - HP:0010921
Membranous cataract - HP:0010922
Anterior subcapsular cataract - HP:0010923
Posterior cortical cataract - HP:0010924
Nuclear punctate cataract - HP:0010925
Aculeiform cataract - HP:0010926
Abnormal blood inorganic cation concentration - HP:0010927
obsolete Increased urinary orotic acid concentration - HP:0010928
Abnormal blood cation concentration - HP:0010929
Abnormal blood monovalent inorganic cation concentration - HP:0010930
Abnormal blood sodium concentration - HP:0010931
Abnormal circulating nucleobase concentration - HP:0010932
Hyperxanthinemia - HP:0010933
Xanthinuria - HP:0010934
Abnormality of the upper urinary tract - HP:0010935
Abnormality of the lower urinary tract - HP:0010936
Abnormality of the nasal skeleton - HP:0010937
Abnormality of the external nose - HP:0010938
Abnormality of the nasal bone - HP:0010939
Aplasia/Hypoplasia of the nasal bone - HP:0010940
Aplasia of the nasal bone - HP:0010941
Echogenic intracardiac focus - HP:0010942
Echogenic fetal bowel - HP:0010943
Abnormal renal pelvis morphology - HP:0010944
Fetal pyelectasis - HP:0010945
Dilatation of the renal pelvis - HP:0010946
Abnormality of ductus venosus blood flow - HP:0010947
Abnormality of the fetal cardiovascular system - HP:0010948
Abnormality of umbilical vein blood flow - HP:0010949
Abnormality of the fourth ventricle - HP:0010950
Abnormality of the third ventricle - HP:0010951
Mild fetal ventriculomegaly - HP:0010952
Noncommunicating hydrocephalus - HP:0010953
Hypoplastic right heart - HP:0010954
Dilatation of the bladder - HP:0010955
Fetal megacystis - HP:0010956
Congenital posterior urethral valve - HP:0010957
Bilateral renal agenesis - HP:0010958
Congenital cystic adenomatoid malformation of the lung - HP:0010959
Bronchopulmonary sequestration - HP:0010960
Intralobar sequestration - HP:0010961
Extralobar sequestration - HP:0010962
Absence of stomach bubble on fetal sonography - HP:0010963
Abnormal circulating long-chain fatty-acid concentration - HP:0010964
Abnormal circulating phytanic acid level - HP:0010965
Abnormal circulating fatty-acid anion concentration - HP:0010966
Abnormal circulating carnitine concentration - HP:0010967
Abnormality of liposaccharide metabolism - HP:0010968
Abnormality of glycolipid metabolism - HP:0010969
Blood group antigen abnormality - HP:0010970
Absence of Lutheran antigen on erythrocytes - HP:0010971
Anemia of inadequate production - HP:0010972
Abnormal myeloid leukocyte morphology - HP:0010974
Abnormal B cell count - HP:0010975
B lymphocytopenia - HP:0010976
Abnormal phagocytosis - HP:0010977
Abnormality of immune system physiology - HP:0010978
Abnormality of lipoprotein cholesterol concentration - HP:0010979
Hyperlipoproteinemia - HP:0010980
Hypolipoproteinemia - HP:0010981
Polygenic inheritance - HP:0010982
Oligogenic inheritance - HP:0010983
Digenic inheritance - HP:0010984
Abnormal cellular immune system morphology - HP:0010987
Abnormality of the extrinsic pathway - HP:0010988
Abnormality of the intrinsic pathway - HP:0010989
Abnormality of the common coagulation pathway - HP:0010990
Abnormal morphology of the abdominal musculature - HP:0010991
Stress urinary incontinence - HP:0010992
Abnormality of the cerebral subcortex - HP:0010993
Abnormal corpus striatum morphology - HP:0010994
Abnormal circulating dicarboxylic acid concentration - HP:0010995
Abnormal circulating monocarboxylic acid cocentration - HP:0010996
Chromosomal breakage induced by ionizing radiation - HP:0010997
Increased susceptibility to spontaneous sister chromatid exchange - HP:0010998
Aplasia of the optic tract - HP:0010999
Aplasia/Hypoplasia of the optic tract - HP:0011000
Increased bone mineral density - HP:0011001
Osteopetrosis - HP:0011002
High myopia - HP:0011003
Abnormal systemic arterial morphology - HP:0011004
Mixed cirrhosis - HP:0011005
Abnormal morphology of the musculature of the neck - HP:0011006
Temporal pattern - HP:0011008
Acute - HP:0011009
Chronic - HP:0011010
Subacute - HP:0011011
Abnormal circulating polysaccharide concentration - HP:0011012
Abnormal circulating carbohydrate concentration - HP:0011013
Abnormal glucose homeostasis - HP:0011014
Abnormal blood glucose concentration - HP:0011015
Abnormality of urine glucose concentration - HP:0011016
Abnormal cellular physiology - HP:0011017
Abnormality of the cell cycle - HP:0011018
Abnormality of chromosome condensation - HP:0011019
Abnormality of mucopolysaccharide metabolism - HP:0011020
Abnormality of circulating enzyme level - HP:0011021
Abnormal circulating unsaturated fatty acid concentration - HP:0011022
Abnormal circulating prostaglandin circulation - HP:0011023
Abnormality of the gastrointestinal tract - HP:0011024
Abnormal cardiovascular system physiology - HP:0011025
Aplasia/Hypoplasia of the vagina - HP:0011026
Abnormal fallopian tube morphology - HP:0011027
Abnormality of blood circulation - HP:0011028
Internal hemorrhage - HP:0011029
Abnormal blood transition element cation concentration - HP:0011030
Abnormality of iron homeostasis - HP:0011031
Abnormality of fluid regulation - HP:0011032
Impairment of fructose metabolism - HP:0011033
Amyloidosis - HP:0011034
Abnormal renal cortex morphology - HP:0011035
Abnormality of renal excretion - HP:0011036
Decreased urine output - HP:0011037
Abnormality of renal resorption - HP:0011038
Abnormality of the helix - HP:0011039
Abnormality of the intrahepatic bile duct - HP:0011040
Aplasia/Hypoplasia of the cervical spine - HP:0011041
Abnormal blood potassium concentration - HP:0011042
Abnormality of circulating adrenocorticotropin level - HP:0011043
Abnormal number of permanent teeth - HP:0011044
Agenesis of permanent maxillary central incisor - HP:0011045
Agenesis of primary maxillary central incisor - HP:0011046
Agenesis of primary mandibular central incisor - HP:0011047
Agenesis of permanent mandibular central incisor - HP:0011048
Agenesis of primary maxillary lateral incisor - HP:0011049
Agenesis of permanent maxillary lateral incisor - HP:0011050
Agenesis of premolar - HP:0011051
Agenesis of maxillary premolar - HP:0011052
Agenesis of mandibular premolar - HP:0011053
Agenesis of molar - HP:0011054
Agenesis of permanent molar - HP:0011055
Agenesis of first permanent molar tooth - HP:0011056
Agenesis of second permanent molar - HP:0011057
Generalized periodontitis - HP:0011058
Localized periodontitis - HP:0011059
Dentinogenesis imperfecta limited to primary teeth - HP:0011060
Abnormality of dental structure - HP:0011061
Misalignment of incisors - HP:0011062
Abnormality of incisor morphology - HP:0011063
Abnormal number of incisors - HP:0011064
Conical incisor - HP:0011065
Mesiodens - HP:0011067
Odontoma - HP:0011068
Increased number of teeth - HP:0011069
Abnormality of molar morphology - HP:0011070
Abnormality of permanent molar morphology - HP:0011071
Rootless teeth - HP:0011072
Abnormality of dental color - HP:0011073
Localized hypoplasia of dental enamel - HP:0011074
Green teeth - HP:0011075
Abnormality of premolar - HP:0011076
Abnormality of molar - HP:0011077
Abnormality of canine - HP:0011078
Impacted tooth - HP:0011079
Abnormality of premolar morphology - HP:0011080
Incisor macrodontia - HP:0011081
Conical primary incisor - HP:0011082
Conical maxillary incisor - HP:0011083
Hypocalcification of dental enamel - HP:0011084
Hypomature dental enamel - HP:0011085
Dentinogenesis imperfecta of primary and permanent teeth - HP:0011086
Talon cusp - HP:0011087
Dens in dente - HP:0011088
Double tooth - HP:0011089
Fused teeth - HP:0011090
Gemination - HP:0011091
Mulberry molar - HP:0011092
Molarization of premolar - HP:0011093
Overbite - HP:0011094
Overjet - HP:0011095
Peripheral demyelination - HP:0011096
Epileptic spasm - HP:0011097
Speech apraxia - HP:0011098
Spastic hemiparesis - HP:0011099
Intestinal atresia - HP:0011100
Ileal atresia - HP:0011102
Abnormal left ventricular outflow tract morphology - HP:0011103<