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Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
ORPHA:95699 · Disease · Disorder
HPO 表現型（共 108 項）
Very frequent (99-80%)(2)
- Abnormal response to ACTH stimulation testHP:0031074
- Abnormality of the skeletal systemHP:0000924
Frequent (79-30%)(21)
- Abnormal circulating pregnenolone concentrationHP:0031187
- Abnormal external genitalia morphologyHP:0000811
- Abnormal female external genitalia morphologyHP:0000055
- Abnormal male external genitalia morphologyHP:0000032
- Abnormal ovarian morphologyHP:0031065
- Abnormal response to human chorionic gonadotrophin stimulation testHP:0031083
- Abnormality of skeletal maturationHP:0000927
- Adrenal hyperplasiaHP:0008221
- Decreased circulating cortisol levelHP:0008163
- Decreased circulating dehydroepiandrosterone-sulfate concentrationHP:0031215
- Decreased fertilityHP:0000144
- Decreased serum estradiolHP:0008214
- Elbow ankylosisHP:0003070
- Elbow flexion contractureHP:0002987
- Elevated circulating 17-hydroxyprogesterone concentrationHP:0031213
- HirsutismHP:0001007
- Increased circulating ACTH levelHP:0003154
- Increased circulating progesteroneHP:0031216
- Limited elbow extensionHP:0001377
- OligozoospermiaHP:0000798
- Polycystic ovariesHP:0000147
Occasional (29-5%)(73)
- Abnormal antihelix morphologyHP:0009738
- Abnormal earlobe morphologyHP:0000363
- Abnormal facial shapeHP:0001999
- Abnormal foot morphologyHP:0001760
- Abnormal metacarpal epiphysis morphologyHP:0005913
- Abnormal metacarpophalangeal joint morphologyHP:0011911
- Abnormal pinna morphologyHP:0000377
- Abnormal rib morphologyHP:0000772
- Abnormal vertebral morphologyHP:0003468
- Abnormality of the handHP:0001155
- Abnormality of the wristHP:0003019
- Ambiguous genitaliaHP:0000062
- ArachnodactylyHP:0001166
- Bowing of the long bonesHP:0006487
- BrachycephalyHP:0000248
- BrachydactylyHP:0001156
- Bulbous noseHP:0000414
- CamptodactylyHP:0012385
- Choanal atresiaHP:0000453
- Choanal stenosisHP:0000452
- ClinodactylyHP:0030084
- Conductive hearing impairmentHP:0000405
- CraniosynostosisHP:0001363
- CryptorchidismHP:0000028
- Cubitus valgusHP:0002967
- Decreased circulating androgen concentrationHP:0030349
- Decreased circulating inhibin B concentrationHP:0031100
- Delayed fine motor developmentHP:0010862
- Delayed pubertyHP:0000823
- Delayed speech and language developmentHP:0000750
- Depressed nasal bridgeHP:0005280
- Disproportionate tall statureHP:0001519
- Elevated circulating follicle stimulating hormone levelHP:0008232
- Elevated circulating luteinizing hormone levelHP:0011969
- Enlarged polycystic ovariesHP:0008675
- Femoral bowingHP:0002980
- Flexion contractureHP:0001371
- Frontal bossingHP:0002007
- Fused labia majoraHP:0025486
- High, narrow palateHP:0002705
- Humeroradial synostosisHP:0003041
- HydrocephalusHP:0000238
- HypertensionHP:0000822
- Hypoplastic scapulaeHP:0000882
- HypospadiasHP:0000047
- Increased circulating corticosterone levelHP:0032362
- Increased size of the clitorisHP:0040253
- Limitation of joint mobilityHP:0001376
- Long palmHP:0011302
- Low-set earsHP:0000369
- Maternal virilization in pregnancyHP:0008072
- Metacarpal synostosisHP:0009701
- Metatarsal synostosisHP:0001440
- MicropenisHP:0000054
- Midface retrusionHP:0011800
- Narrow chestHP:0000774
- Narrow mouthHP:0000160
- Narrow pelvis boneHP:0003275
- Primary amenorrheaHP:0000786
- Radioulnar dislocationHP:0006439
- Radioulnar synostosisHP:0002974
- Rocker bottom footHP:0001838
- ScoliosisHP:0002650
- Short metacarpalHP:0010049
- Short noseHP:0003196
- Shortening of all distal phalanges of the fingersHP:0006118
- Stenosis of the external auditory canalHP:0000402
- StillbirthHP:0003826
- TalipesHP:0001883
- Talipes equinovarusHP:0001762
- TurricephalyHP:0000262
- Ulnar deviation of the wristHP:0003049
- Wide anterior fontanelHP:0000260
Very rare (<4-1%)(12)
- Abnormal umbilical cord blood vessel morphologyHP:0011403
- Abnormality of the urinary systemHP:0000079
- Anteriorly placed anusHP:0001545
- Chiari malformationHP:0002308
- ConstipationHP:0002019
- Dilatation of the renal pelvisHP:0010946
- Gastroesophageal refluxHP:0002020
- Midfrontal capillary hemangiomaHP:0007466
- Proximal tibial and fibular fusionHP:0005892
- Tarsal synostosisHP:0008368
- Unilateral renal agenesisHP:0000122
- Vesicoureteral refluxHP:0000076