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Fanconi anemia
ORPHA:84 · Malformation syndrome · Disorder
HPO 表現型（共 106 項）
Very frequent (99-80%)(13)
- Abnormal skin pigmentationHP:0001000
- Abnormal thumb morphologyHP:0001172
- Abnormality of blood and blood-forming tissuesHP:0001871
- Abnormality of chromosome stabilityHP:0003220
- Abnormality of the upper limbHP:0002817
- AnemiaHP:0001903
- Aplasia/Hypoplasia of the radiusHP:0006501
- Decreased total leukocyte countHP:0001882
- Hypopigmented skin patchesHP:0001053
- Irregular hyperpigmentationHP:0007400
- Pyridoxine-responsive sideroblastic anemiaHP:0005522
- Short statureHP:0004322
- ThrombocytopeniaHP:0001873
Frequent (79-30%)(10)
- Abnormal cardiac septum morphologyHP:0001671
- Abnormal renal morphologyHP:0012210
- Abnormality of the urinary systemHP:0000079
- Almond-shaped palpebral fissureHP:0007874
- Global developmental delayHP:0001263
- Intellectual disabilityHP:0001249
- MicrocephalyHP:0000252
- NeoplasmHP:0002664
- ScoliosisHP:0002650
- Short palpebral fissureHP:0012745
Occasional (29-5%)(83)
- Abnormal aortic morphologyHP:0001679
- Abnormal aortic valve morphologyHP:0001646
- Abnormal carotid artery morphologyHP:0005344
- Abnormal eyelid morphologyHP:0000492
- Abnormal femur morphologyHP:0002823
- Abnormal foot morphologyHP:0001760
- Abnormal localization of kidneyHP:0100542
- Abnormal morphology of ulnaHP:0040071
- Abnormal nervous system morphologyHP:0012639
- Abnormal pinna morphologyHP:0000377
- Abnormal preputium morphologyHP:0100587
- Abnormal testis morphologyHP:0000035
- Abnormality of the eyeHP:0000478
- Abnormality of the hypothalamus-pituitary axisHP:0000864
- Abnormality of the liverHP:0001392
- Abnormality of the uterusHP:0000130
- Abnormality of visionHP:0000504
- Absent testisHP:0010469
- Aganglionic megacolonHP:0002251
- Anal atresiaHP:0002023
- Aplasia/Hypoplasia of fingersHP:0006265
- Aplasia/Hypoplasia of the irisHP:0008053
- Aplasia/Hypoplasia of the uvulaHP:0010293
- Arteriovenous malformationHP:0100026
- AstigmatismHP:0000483
- Atrial septal defectHP:0001631
- AzoospermiaHP:0000027
- Bicornuate uterusHP:0000813
- CataractHP:0000518
- Choanal atresiaHP:0000453
- Cleft palateHP:0000175
- Clinodactyly of the 5th fingerHP:0004209
- Clubbing of toesHP:0100760
- Cranial nerve paralysisHP:0006824
- CryptorchidismHP:0000028
- Decreased fertility in malesHP:0012041
- DolichocephalyHP:0000268
- Duodenal stenosisHP:0100867
- EpicanthusHP:0000286
- Facial asymmetryHP:0000324
- Finger syndactylyHP:0006101
- Frontal bossingHP:0002007
- Growth delayHP:0001510
- Hearing abnormalityHP:0000364
- Hearing impairmentHP:0000365
- High palateHP:0000218
- Hip dislocationHP:0002827
- HydrocephalusHP:0000238
- HydroureterHP:0000072
- HyperreflexiaHP:0001347
- HypertelorismHP:0000316
- Hypertrophic cardiomyopathyHP:0001639
- HypogonadismHP:0000135
- Hypoplasia of the ulnaHP:0003022
- HypospadiasHP:0000047
- Intrauterine growth retardationHP:0001511
- Meckel diverticulumHP:0002245
- MicrognathiaHP:0000347
- MicrophthalmiaHP:0000568
- Multiple cafe-au-lait spotsHP:0007565
- MyelodysplasiaHP:0002863
- NystagmusHP:0000639
- OligohydramniosHP:0001562
- Patent ductus arteriosusHP:0001643
- Pes planusHP:0001763
- ProptosisHP:0000520
- PtosisHP:0000508
- Recurrent urinary tract infectionsHP:0000010
- Reduced bone mineral densityHP:0004349
- Renal hypoplasia/aplasiaHP:0008678
- Renal insufficiencyHP:0000083
- Sloping foreheadHP:0000340
- Spina bifidaHP:0002414
- StrabismusHP:0000486
- Tetralogy of FallotHP:0001636
- Toe syndactylyHP:0001770
- Tracheoesophageal fistulaHP:0002575
- Triphalangeal thumbHP:0001199
- Umbilical herniaHP:0001537
- Upslanted palpebral fissureHP:0000582
- VentriculomegalyHP:0002119
- Visual impairmentHP:0000505
- Weight lossHP:0001824