CUI Search Word Search


home
<< Browsing of OMIM terms >>
Title / ConceptCUI
CEREBRAL CHOLESTERINOSISC0238052
CTXC0238052
Chronic epididymitisC0238110
INCLUSION BODY MYOSITISC0238190
INCLUSION BODY MYOSITISC0238190
IBMC0238190
GASTROINTESTINAL STROMAL TUMORC0238198
GISTC0238198
Ectopic kidneyC0238207
Ectopic kidneysC0238207
Malrotation of kidneyC0238210
Malrotation of the kidneyC0238210
Liver hemangiomasC0238246
Hepatic angiomasC0238246
LYMPHEDEMA PRAECOXC0238261
LYMPHEDEMA, LATE-ONSETC0238261
LYMPHEDEMA, HEREDITARY, IIC0238261
MUCOLIPIDOSIS IVC0238286
ML4C0238286
ML IVC0238286
SIALOLIPIDOSISC0238286
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHYC0238288
MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERALC0238288
LANDOUZY-DEJERINE MUSCULAR DYSTROPHYC0238288
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1AC0238288
FSHMD1AC0238288
FSHD1AC0238288
FSHDC0238288
FMDC0238288
MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 1AC0238288
Nasolacrimal duct stenosisC0238300
NASOPHARYNGEAL CANCERC0238301
NASOPHARYNGEAL CARCINOMAC0238301
Chronic tubulointerstitial nephritisC0238304
PANCREATITIS, HEREDITARYC0238339
PANCREATITIS, CHRONICC0238339
HPC0238339
HPCC0238339
PCTTC0238339
PARALYSIS AGITANS, JUVENILE, OF HUNTC0238344
PARKINSON DISEASE, JUVENILE, OF HUNTC0238344
HYPERKALEMIC PERIODIC PARALYSISC0238357
HYPERKALEMIC PERIODIC PARALYSISC0238357
GAMSTORP DISEASEC0238357
GAMSTORP-WOHLFART SYNDROMEC0238357
HYPPC0238357
MYOKYMIA, MYOTONIA, MUSCLE WASTING, AND HYPERHIDROSISC0238357
ADYNAMIA EPISODICA HEREDITARIA WITH OR WITHOUT MYOTONIAC0238357
HYPOKALEMIC PERIODIC PARALYSISC0238358
HOKPPC0238358
HOKPP1C0238358
DIPC0238378
ILD, DESQUAMATIVEC0238378
INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIALC0238378
PNEUMONITIS, DESQUAMATIVE INTERSTITIAL, FAMILIALC0238378
INTERSTITIAL LUNG DISEASE, DESQUAMATIVEC0238378
PNEUMONIA, DESQUAMATIVE INTERSTITIAL, FAMILIALC0238378
Male pseudohermaphroditismC0238395
Pulmonary artery stenosisC0238397
Total anomalous pulmonary venous drainageC0238400
Total anomalous pulmonary venous connectionC0238400
Total anomalous pulmonary venous returnC0238400
PYKNODYSOSTOSISC0238402
PYCNODYSOSTOSISC0238402
PKNDC0238402
PYCDC0238402
Subglottic stenosisC0238441
Symphysis pubis diastasisC0238442
Diastasis of symphysis pubisC0238442
TERATOMA, TESTICULARC0238451
THYROID CARCINOMA, ANAPLASTICC0238461
LI-FRAUMENI SYNDROME, ARG273HISC0238461
TP53, ARG273HISC0238461
Medullary thyroid carcinomaC0238462
Papillary thyroid carcinomaC0238463
Thyroid papillary carcinomaC0238463
THYROID CARCINOMA, PAPILLARYC0238463
Papillary carcinoma of thyroidC0238463
PAPILLARY CARCINOMA OF THYROIDC0238463
PTCC0238463
TPCC0238463
PACTC0238463
FAMILIAL NONMEDULLARY THYROID CANCERC0238463
FNMTCC0238463
NONMEDULLARY THYROID CARCINOMAC0238463
NMTCC0238463
TRANSIENT ERYTHROBLASTOPENIA OF CHILDHOODC0238478
TECC0238478
ERYTHROBLASTOPENIA, TRANSIENTC0238478
ABDOMINAL WALL DEFECTSC0238577
Increased ACTHC0238597
AminoaciduriaC0238621
Ankle clonusC0238651
Foot clonusC0238651
Decreased antithrombin IIIC0238665
Ascending aortic dilationC0238666
Aortic root dilatationC0238669
BathrocephalyC0238755
Increased megakaryocytes (bone marrow)C0238800
Megaloblastic bone marrowC0238801
Chest deformitiesC0238983
Chest wall rigidityC0239006
Chewing difficultiesC0239043
Coloboma of choroidC0239054
Choroid colobomaC0239054
Difficulty walking up stairsC0239067
Difficulty climbing stairsC0239067
Conjunctival irritationC0239093
Telangiectasia, conjunctivalC0239105
Conjunctival telangiectasiaC0239105
Conjunctival telangiectasesC0239105
Enlargement of the costochondral junctionC0239129
Coxa valgaC0239137
COXA VARAC0239138
Coxa varaC0239138
High pitched cryC0239154
Late tooth eruptionC0239174
Delayed dentitionC0239174
Delayed tooth eruptionC0239174
Delayed teeth eruptionC0239174
Intermittent diarrheaC0239181
Dyspnea, progressiveC0239202
Low set earsC0239234
Low-set earsC0239234
Low-set earC0239234
Edema of the lower limbsC0239340
Short limbsC0239399
Upper extremity tremorC0239412
Eye deviationC0239421
Loss of eyebrow hairC0239441
Round faceC0239479
Facial erythemaC0239488
Facial pallorC0239513
Coarse faciesC0239539
Tongue fasciculationsC0239548
Decreased fetal activityC0239558
Short fingersC0239594
Subcutaneous nodules (fingers)C0239597
Finger swellingC0239598
Cylindrical fingersC0239606
Furrowing of foreheadC0239674
High foreheadC0239676
GrimacingC0239779
BLOND HAIRC0239801
Blond hairC0239801
Blonde hairC0239801
Red hairC0239803
Red HairC0239803
Clenched handsC0239815
Hand muscle atrophyC0239830
Hand muscle weaknessC0239831
Hand stiffnessC0239840
Hand tremorC0239842
`HARLEQUIN FETUS`C0239849
HARLEQUIN ICHTHYOSISC0239849
ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPEC0239849
Head tremorC0239882
Recurrent headachesC0239888
Increased hematocritC0239935
Microscopic hematuriaC0239937
Elevated fetal hemoglobinC0239941
Liver fibrosisC0239946
Hepatic fibrosisC0239946
HypoalbuminemiaC0239981
Decreased IgGC0239987
Decreased IgMC0239989
Elevated IgMC0239990
Increased IgMC0239990
Recurrent infectionsC0239998
Interstitial fibrosisC0240035
Interstitial pulmonary fibrosisC0240035
Intracranial calcificationsC0240041
Iris colobomaC0240063
Knee flexionC0240114
Hyperreflexia in kneesC0240116
Knee swellingC0240130
LeukonychiaC0240182
Lower lip droopC0240196
Lip swellingC0240211
Thickened lipsC0240214
Fractures of the long bonesC0240231
Mandibular hypoplasiaC0240295
Maxillary hypoplasiaC0240310
MicrodontiaC0240340
MicrographiaC0240341
Open mouthC0240379
Muscle weakness, progressiveC0240421
Nail deformitiesC0240434
Destruction of nailsC0240435
Nail hypoplasiaC0240439
Thickened nailsC0240444
Neck muscle weaknessC0240479
Beaked noseC0240538
Bulbous noseC0240543
Upturned noseC0240582
Short upturned noseC0240583
Short, upturned noseC0240583
Notched nostrilsC0240586
Nystagmus, rotaryC0240595
Rotary nystagmusC0240595
Orbital massC0240606
High arched palateC0240635
High, arched palateC0240635
High-arched palateC0240635
Palmar keratosisC0240641
PTT prolongedC0240671
Pelvic girdle muscle atrophyC0240679
Small penisC0240701
MicrophallusC0240701
Pericardial constrictionC0240709
Personality changeC0240735
Personality changesC0240735
Pharyngeal muscle weaknessC0240749
Elevated plasma reninC0240783
Retinal colobomaC0240896
Coloboma of retinaC0240896
Chorioretinal colobomaC0240896
Retinal exudatesC0240897
`Rocker-bottom` feetC0240912
`Rocker bottom` feetC0240912
Rocker bottom feetC0240912
Rocker-bottom feetC0240912
PES VALGUS, CONGENITAL CONVEXC0240912
Positive Romberg signC0240914
`Winged` scapulaeC0240953
Winging of scapulaC0240953
Winged scapulaeC0240953
White scleraeC0240961
Sebaceous gland hyperplasiaC0240987
Sensory ataxiaC0240991
Decreased serum cortisolC0241002
Increased serum cortisolC0241003
CREATINE PHOSPHOKINASE, ELEVATED SERUMC0241005
CREATINE PHOSPHOKINASE, ELEVATED SERUMC0241005
CREATINE PHOSPHOKINASE, ELEVATED SERUMC0241005
Increased serum creatine phosphokinaseC0241005
HYPERCKEMIA, IDIOPATHICC0241005
Elevated serum CPKC0241005
CPK, ELEVATED SERUMC0241005
Decreased serum estradiolC0241011
Decreased serum ferritinC0241012
Increased serum ferritinC0241013
Shoulder girdle muscle weaknessC0241035
Muscle weakness, shoulder-girdleC0241035
Stiff shouldersC0241042
Shoulder stiffnessC0241042
Cutaneous cystsC0241060
Skin erosionsC0241069
Skin hyperelasticityC0241074
Thickened skinC0241165
Skin thickeningC0241165
Velvety skinC0241178
Fragile skinC0241181
Smooth muscle antibody positiveC0241185
Speech delayC0241210
Difficulty standingC0241237
Difficulty in standingC0241237
Tall statureC0241240
Absence of subcutaneous fatC0241267
Hypoplastic testesC0241355
Small testesC0241355
Low testosteroneC0241357
Decreased testosteroneC0241357
High testosteroneC0241358
Absent thumbsC0241391
Absent thumbC0241391
Absent thumb(s)C0241391
Spatulate thumbsC0241395
Triphalangeal thumbC0241397
TRIPHALANGEAL THUMBC0241397
TRIPHALANGEAL THUMBC0241397
TRIPHALANGEAL THUMBC0241397
TRIPHALANGEAL THUMBC0241397
Triphalangeal thumb(s)C0241397
Triphalangeal thumbsC0241397
TPTC0241397
Leukoplakia (tongue)C0241435
Tongue muscle weaknessC0241437
Tongue nodulesC0241438
Tongue noduleC0241438
Tongue protrusionC0241442
Muscle weakness of the trunkC0241492
Trunk muscle weaknessC0241492
Ulnar deviation of the handsC0241521
Ulnar deviation of handsC0241521
Maple syrup urine odorC0241584
Vaginal cystsC0241619
Vaginal drynessC0241633
Vascular abnormalitiesC0241657
High pitched voiceC0241703
High-pitched voiceC0241703
High-pitchedC0241703
Micturition difficultiesC0241705
Delayed walkingC0241726
Wrist swellingC0241760
X-linkedC0241764
Absent deep tendon reflexesC0241772
Organic aciduriaC0241775
Diffuse brain atrophyC0241816
Exercise intoleranceC0241885
Generalized fatigueC0241898
HEMATURIA, BENIGN FAMILIALC0241908
BFHC0241908
HALOTHANE HEPATITISC0241913
HYPOGAMMAGLOBULINEMIA, X-LINKEDC0241932
Renal angiomyolipomaC0241961
HypoxiaC0242184
GallstonesC0242216
Coronary artery stenosisC0242231
ISAACS-MERTENS SYNDROMEC0242287
MCCUNE-ALBRIGHT SYNDROMEC0242292
ALBRIGHT SYNDROMEC0242292
POLYOSTOTIC FIBROUS DYSPLASIAC0242292
MASC0242292
POFDC0242292
PFDC0242292
PanhypopituitarismC0242343
ImpotenceC0242350
Congenital disorderC0242354
LUNG CANCERC0242379
MACULOPATHY, AGE-RELATEDC0242383
MACULAR DEGENERATION, SENILEC0242383
ARMD2C0242383
MACULOPATHY, AGE-RELATED, 2C0242383
MACULAR DEGENERATION, AGE-RELATED, 2C0242383
CrossbiteC0242385
MANDIBULOFACIAL DYSOSTOSISC0242387
TREACHER COLLINS SYNDROMEC0242387
TCSC0242387
TREACHER COLLINS-FRANCESCHETTI SYNDROMEC0242387
TCOFC0242387
MFD1C0242387
ParkinsonismC0242422
PARKINSONISMC0242422
AzotemiaC0242528
OpsoclonusC0242567
BARE LYMPHOCYTE SYNDROMEC0242583
BLSC0242583
SEVERE COMBINED IMMUNODEFICIENCY, HLA CLASS II-NEGATIVEC0242583
BLS, TYPE IIC0242583
SCID, HLA CLASS II-NEGATIVEC0242583
BARE LYMPHOCYTE SYNDROME, TYPE IIC0242583
Autoimmune thrombocytopeniaC0242584
REFETOFF SYNDROMEC0242604
THYROID-STIMULATING HORMONE, RESISTANCE TOC0242604
THYROID HORMONE UNRESPONSIVENESSC0242604
THYROID HORMONE UNRESPONSIVENESSC0242604
RESISTANCE TO THYROTROPINC0242604
RESISTANCE TO THYROTROPINC0242604
THYROTROPIN RESISTANCEC0242604
THYROTROPIN RESISTANCEC0242604
THYROTROPIN RESISTANCEC0242604
TSH RESISTANCEC0242604
GRTHC0242604
GRTHC0242604
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANTC0242604
HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONESC0242604
HYPOTHYROIDISM DUE TO UNRESPONSIVENESS TO THYROTROPINC0242604
HYPOTHYROIDISM, CONGENITAL, DUE TO TSH RESISTANCEC0242604
RTSHC0242604
RTSHC0242604
RTSHC0242604
CHNG1C0242604
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 3C0242604
CHNG3C0242604
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1C0242604
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVEC0242604
GTHRC0242604
GTHRC0242604
HYPOTHYROIDISM, NONAUTOIMMUNEC0242604
Protein S deficiencyC0242666
Pulmonary atresiaC0242855
ERBB2C0242957
HER2C0242957
NEUC0242957
NGLC0242957
ONCOGENE ERBB2C0242957
TKR1C0242957
TYROSINE KINASE-TYPE CELL SURFACE RECEPTOR HER2C0242957
V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 2C0242957
ONCOGENE NGL, NEUROBLASTOMA- OR GLIOBLASTOMA-DERIVEDC0242957
Genetic heterogeneityC0242960
Muscle fatigueC0242979
ERBA1C0242987
THRAC0242987
THRA1C0242987
THYROID HORMONE RECEPTOR, ALPHA-1C0242987
ERBA-ALPHAC0242987
ERBAC0242987
V-ERB-A AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 1C0242987
THYROID HORMONE RECEPTOR, CENTRAL NERVOUS SYSTEM FORMC0242987
EAR7C0242987
ERBA-RELATED 7C0242987
ONCOGENE ERBAC0242987
ERBA2C0242988
THRBC0242988
THYROID HORMONE RECEPTOR, BETAC0242988
ERBA-BETAC0242988
V-ERB-A AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 2C0242988
ONCOGENE ERBA2C0242988
Tricuspid atresiaC0243002
TRICUSPID ATRESIAC0243002
Systemic infectionsC0243026
p21C0249197
CIP1C0249197
WAF1C0249197
CYCLIN-DEPENDENT KINASE INHIBITOR 1AC0249197
CDK-INTERACTING PROTEIN 1C0249197
CDKN1AC0249197
WILDTYPE p53-ACTIVATED FRAGMENT 1C0249197
APO-DYSTROPHIN 1C0250863
FIBRILLIN 2C0252313
FBN2C0252313
BREVICANC0253426
Steatocystoma multiplexC0259771
STEATOCYSTOMA MULTIPLEXC0259771
SEBACEOUS CYSTS, MULTIPLEC0259771
Punctate keratitisC0259799
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANTC0259810
RTA, DISTAL TYPE, AUTOSOMAL DOMINANTC0259810
RENAL TUBULAR ACIDOSIS IC0259810
RTA, CLASSIC TYPEC0259810
RTA, GRADIENT TYPEC0259810
`Drop` attacksC0259813
XerosisC0259817
Multiple tumorsC0260037
Behavioral problemsC0260653
Anal stenosisC0262374
Bladder prolapseC0262393
Cerebellar degenerationC0262404
CARDIAC VALVULAR DYSPLASIA, X-LINKEDC0262436
VALVULAR HEART DISEASE, CONGENITALC0262436
CVD1C0262436
MYXOMATOUS VALVULAR DYSTROPHY, X-LINKEDC0262436
XMVDC0262436
Dental abnormalitiesC0262444
Facial wrinklingC0262478
Parathyroid adenomaC0262587
Short attention spanC0262630
Recurrent urinary tract infectionsC0262655
URTICARIA, AQUAGENICC0263334
KYRLE DISEASEC0263382
KERATOSIS PILARISC0263383
Keratosis pilarisC0263383
PIGMENTED PURPURIC ERUPTIONC0263396
Cutis marmorataC0263401
HYPERKERATOSIS LENTICULARIS PERSTANSC0263420
FLEGEL DISEASEC0263420
HLPC0263420
ATROPHODERMIA VERMICULATAC0263429
HONEYCOMB ATROPHYC0263429
FOLLICULITIS ULERYTHEMATOSAC0263429
ATROPHODERMIA RETICULATAC0263429
ATROPHODERMIA RETICULATA SYMMETRICA FACIEIC0263429
GRANULOSIS RUBRA NASIC0263471
HAIRY EARSC0263482
HYPERTRICHOSIS PINNAE AURISC0263482
DistrichiasisC0263483
Trichorrhexis nodosaC0263485
RINGED HAIRC0263489
Pili annulatiC0263489
PILI ANNULATIC0263489
Brittle hairC0263490
PILI TORTIC0263491
Pili tortiC0263491
TWISTED HAIRC0263491
Premature greyingC0263498
Premature grayingC0263498
ALOPECIA UNIVERSALISC0263505
AUC0263505
PERIFOLLICULITIS CAPITIS ABSCEDENS ET SUFFODIENS, FAMILIALC0263506
DISSECTING CELLULITIS OF THE SCALPC0263506
OnychorrhexisC0263530
OnychauxisC0263536
OnychogryposisC0263537
Nail lossC0263540
Complete nail lossC0263540
Ichthyosis hystrixC0263580
Subcutaneous calcificationC0263625
HAND OSTEOARTHRITISC0263746
HOAC0263746
Narrow intervertebral disc spacesC0263870
Narrow disk spaceC0263870
Narrow disk spacesC0263870
Atlantoaxial subluxationC0263905
KNUCKLE PADSC0264000
EOSINOPHILIC FASCIITISC0264005
OSTEOPOROSIS, JUVENILEC0264080
IDIOPATHIC JUVENILE OSTEOPOROSISC0264080
IJOC0264080
OSTEOARTHROPATHY OF FINGERS, FAMILIALC0264081
THIEMANN EPIPHYSEAL DISEASEC0264081
Wedged vertebraeC0264112
Broad handsC0264142
Saddle nose deformityC0264169
Barrel chestC0264172
Purulent rhinitisC0264272
LARYNGOMALACIAC0264303
LaryngomalaciaC0264303
Trachea calcificationsC0264324
Tracheal calcificationsC0264324
Bronchi calcificationsC0264350
BronchomalaciaC0264353
LYMPHOID INTERSTITIAL PNEUMONIAC0264511
LIPC0264511
Spastic dysphoniaC0264588
Dysphonia, spasmodicC0264588
Ventricular dilatationC0264733
Dilated ventriclesC0264733
CARDIAC CONDUCTION DEFECTC0264886
CARDIAC CONDUCTION DEFECTC0264886
Cardiac conduction defectsC0264886
ACCESSORY ATRIOVENTRICULAR PATHWAYSC0264897
Aortic dilatationC0265004
DE SANCTIS-CACCHIONE SYNDROMEC0265201
DE SANCTIS-CACCHIONE SYNDROMEC0265201
BIRD-HEADED DWARFISMC0265202
NANOCEPHALIC DWARFISMC0265202
SECKEL-TYPE DWARFISMC0265202
SCKL1C0265202
SCKLC0265202
MICROCEPHALIC PRIMORDIAL DWARFISM IC0265202
SECKEL SYNDROME 1C0265202
ROBINOW SYNDROME, AUTOSOMAL DOMINANTC0265205
FETAL FACE SYNDROMEC0265205
ACRAL DYSOSTOSIS WITH FACIAL AND GENITAL ABNORMALITIESC0265205
ROBINOW DWARFISMC0265205
WEAVER SYNDROMEC0265210
WEAVER-SMITH SYNDROMEC0265210
WSSC0265210
MARSHALL-SMITH SYNDROMEC0265211
MECKEL-GRUBER SYNDROMEC0265215
DYSENCEPHALIA SPLANCHNOCYSTICAC0265215
MESC0265215
MECKEL SYNDROME, TYPE 1C0265215
MKSC0265215
MECKEL-GRUBER SYNDROME, TYPE 1C0265215
GRUBER SYNDROMEC0265215
MECKEL SYNDROMEC0265215
MKS1C0265215
HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUSC0265216
HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUSC0265216
HYDROCEPHALUS, X-LINKEDC0265216
HSASC0265216
AQUEDUCTAL STENOSIS, X-LINKEDC0265216
XLASC0265216
HSAS1C0265216
HYCXC0265216
Aqueductal stenosisC0265216
AQUEDUCTAL STENOSISC0265216
NEU-LAXOVA SYNDROMEC0265218
NLSC0265218
MDSC0265219
MILLER-DIEKER LISSENCEPHALY SYNDROMEC0265219
MDLSC0265219
PALLISTER-HALL SYNDROMEC0265220
PHSC0265220
HYPOTHALAMIC HAMARTOBLASTOMA, HYPOPITUITARISM, IMPERFORATE ANUS, AND POSTAXIAL POLYDACTYLYC0265220
HYDROCEPHALUS, AGYRIA, AND RETINAL DYSPLASIAC0265221
HARD +/- E SYNDROMEC0265221
WARBURG SYNDROMEC0265221
WALKER-WARBURG SYNDROMEC0265221
CODC0265221
CHEMKE SYNDROMEC0265221
PAGON SYNDROMEC0265221
COD-MD SYNDROMEC0265221
CEREBROOCULAR DYSGENESISC0265221
HARD SYNDROMEC0265221
CEREBROOCULAR DYSPLASIA-MUSCULAR DYSTROPHY SYNDROMEC0265221
COHEN SYNDROMEC0265223
PEPPER SYNDROMEC0265223
HYPOTONIA, OBESITY, AND PROMINENT INCISORSC0265223
CHS1, FORMERLYC0265223
COH1C0265223
FREEMAN-SHELDON SYNDROMEC0265224
FSSC0265224
DA2AC0265224
ARTHROGRYPOSIS, DISTAL, TYPE 2AC0265224
CRANIOCARPOTARSAL DYSTROPHYC0265224
WHISTLING FACE-WINDMILL VANE HAND SYNDROMEC0265224
CRANIOCARPOTARSAL DYSPLASIAC0265224
TRISMUS-PSEUDOCAMPTODACTYLY SYNDROMEC0265226
TRISMUS-PSEUDOCAMPTODACTYLY SYNDROMEC0265226
HECHT SYNDROMEC0265226
ARTHROGRYPOSIS, DISTAL, TYPE 7C0265226
DA7C0265226
MOUTH, INABILITY TO OPEN COMPLETELY, AND SHORT FINGER-FLEXOR TENDONSC0265226
FRASER SYNDROMEC0265233
CRYPTOPHTHALMOS-SYNDACTYLY SYNDROMEC0265233
CRYPTOPHTHALMOS WITH OTHER MALFORMATIONSC0265233
BRANCHIOOTORENAL DYSPLASIAC0265234
MELNICK-FRASER SYNDROMEC0265234
BOR1C0265234
BRANCHIOOTORENAL SYNDROME 1C0265234
MARSHALL SYNDROMEC0265235
WILDERVANCK SYNDROMEC0265239
CERVICOOCULOACOUSTIC SYNDROMEC0265239
GOLDENHAR SYNDROMEC0265240
OCULOAURICULOVERTEBRAL DYSPLASIAC0265240
FAV SEQUENCEC0265240
OAVSC0265240
OAV DYSPLASIAC0265240
FACIOAURICULOVERTEBRAL SEQUENCEC0265240
OCULOAURICULOVERTEBRAL SPECTRUMC0265240
OTOCEPHALYC0265242
NAGER ACROFACIAL DYSOSTOSISC0265245
ACROFACIAL DYSOSTOSIS 1, NAGER TYPEC0265245
AFD, NAGER TYPEC0265245
MANDIBULOFACIAL DYSOSTOSIS, TREACHER COLLINS TYPE, WITH LIMB ANOMALIESC0265245
AFD1C0265245
TOWNES-BROCKS SYNDROMEC0265246
ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIESC0265246
TBSC0265246
REAR SYNDROMEC0265246
DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIESC0265246
RENAL-EAR-ANAL-RADIAL SYNDROMEC0265246
RUVALCABA SYNDROMEC0265248
MENTAL RETARDATION SYNDROME, MIETENS-WEBER TYPEC0265249
MIETENS-WEBER SYNDROMEC0265249
COFFIN-LOWRY SYNDROMEC0265252
CLSC0265252
STICKLER SYNDROME, TYPE IC0265253
ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVEC0265253
STL1C0265253
AOMC0265253
STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPEC0265253
STICKLER SYNDROME, VITREOUS TYPE 1C0265253
GENEE-WIEDEMANN SYNDROMEC0265257
MILLER SYNDROMEC0265257
POSTAXIAL ACROFACIAL DYSOSTOSISC0265257
POADSC0265257
POPLITEAL PTERYGIUM SYNDROMEC0265259
PPSC0265259
CLEFT LIP/PALATE, PARAMEDIAN MUCOUS CYSTS OF THE LOWER LIP, POPLITEAL PTERYGIUM, DIGITAL AND GENITAL ANOMALIESC0265259
FACIOGENITOPOPLITEAL SYNDROMEC0265259
CHONDRODYSPLASIA, GREBE TYPEC0265260
GREBE DYSPLASIAC0265260
AMDGC0265260
ACHONDROGENESIS, TYPE II, FORMERLYC0265260
ACHONDROGENESIS, BRAZILIANC0265260
ACROMESOMELIC DYSPLASIA, GREBE TYPEC0265260
GREBE CHONDRODYSPLASIAC0265260
MULTIPLE PTERYGIUM SYNDROMEC0265261
ESCOBAR SYNDROMEC0265261
PTERYGIUM COLLI SYNDROMEC0265261
PTERYGIUM COLLI SYNDROMEC0265261
PTERYGIUM SYNDROMEC0265261
PTERYGIUM UNIVERSALEC0265261
MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPEC0265261
MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANTC0265261
FEMORAL-FACIAL SYNDROMEC0265263
FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROMEC0265263
FHUFSC0265263
FFSC0265263
HOLT-ORAM SYNDROMEC0265264
HOSC0265264
HEART-HAND SYNDROMEC0265264
ATRIODIGITAL DYSPLASIAC0265264
HOS1C0265264
CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTSC0265267
CHILD SYNDROMEC0265267
ICHTHYOSIFORM ERYTHRODERMA, UNILATERAL, WITH IPSILATERAL MALFORMATIONS, ESPECIALLY ABSENCE DEFORMITY OF LIMBSC0265267
ADAMS-OLIVER SYNDROMEC0265268
AOSC0265268
CONGENITAL SCALP DEFECTS WITH DISTAL LIMB REDUCTION ANOMALIESC0265268
ABSENCE DEFECT OF LIMBS, SCALP, AND SKULLC0265268
APLASIA CUTIS CONGENITA WITH TERMINAL TRANSVERSE LIMB DEFECTSC0265268
LACRIMOAURICULODENTODIGITAL SYNDROMEC0265269
LEVY-HOLLISTER SYNDROMEC0265269
LADDC0265269
ACHONDROGENESIS, TYPE IAC0265273
ACHONDROGENESIS, HOUSTON-HARRIS TYPEC0265273
ACG1AC0265273
ACHONDROGENESIS, TYPE IBC0265274
ACHONDROGENESIS, TYPE IBC0265274
ACG1BC0265274
ACHONDROGENESIS, FRACCARO TYPEC0265274
JEUNE SYNDROMEC0265275
THORACIC-PELVIC-PHALANGEAL DYSTROPHYC0265275
ATD1C0265275
ASPHYXIATING THORACIC DYSTROPHY 1C0265275
CAMPTOMELIC DYSPLASIAC0265276
ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPEC0265278
ACROMESOMELIC DWARFISMC0265278
AMDHC0265278
KNIEST DYSPLASIAC0265279
METATROPIC DYSPLASIA IIC0265279
METATROPIC DWARFISM, TYPE IIC0265279
SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPEC0265280
SMD, KOZLOWSKI TYPEC0265280
METATROPIC DWARFISMC0265281
METATROPIC DYSPLASIA IC0265281
FIBROCHONDROGENESISC0265282
ATELOSTEOGENESIS, TYPE IC0265283
GIANT CELL CHONDRODYSPLASIAC0265283
AOIC0265283
SPONDYLOHUMEROFEMORAL HYPOPLASIAC0265283
DMCC0265286
DYGGVE-MELCHIOR-CLAUSEN DISEASEC0265286
DYGGVE-MELCHIOR-CLAUSEN DISEASEC0265286
ACROMICRIC DYSPLASIAC0265287
GELEOPHYSIC DYSPLASIAC0265287
METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPEC0265289
MCDSC0265289
SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPEC0265289
FRONTOMETAPHYSEAL DYSPLASIAC0265293
FMDC0265293
PYLE DISEASEC0265294
Metaphyseal dysplasiaC0265294
METAPHYSEAL DYSPLASIAC0265294
METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPEC0265295
METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPEC0265295
SCLEROSTEOSISC0265301
SOSTC0265301
CORTICAL HYPEROSTOSIS WITH SYNDACTYLYC0265301
ACROCEPHALOPOLYSYNDACTYLY TYPE IVC0265303
ACPS IVC0265303
GOODMAN SYNDROMEC0265303
GREIG CEPHALOPOLYSYNDACTYLY SYNDROMEC0265306
POLYSYNDACTYLY WITH PECULIAR SKULL SHAPEC0265306
GCPSC0265306
ANTLEY-BIXLER SYNDROMEC0265307
ANTLEY-BIXLER SYNDROMEC0265307
ANTLEY-BIXLER SYNDROMEC0265307
ANTLEY-BIXLER SYNDROMEC0265307
ANTLEY-BIXLER SYNDROMEC0265307
ABSC0265307
MULTISYNOSTOTIC OSTEODYSGENESIS WITH LONG BONE FRACTURESC0265307
OSTEODYSGENESIS, MULTISYNOSTOTIC, WITH FRACTURESC0265307
TRAPEZOIDOCEPHALY-SYNOSTOSIS SYNDROMEC0265307
BALLER-GEROLD SYNDROMEC0265308
CRANIOSYNOSTOSIS-RADIAL APLASIA SYNDROMEC0265308
BGSC0265308
CRANIOSYNOSTOSIS WITH RADIAL DEFECTSC0265308
LERI-WEILL DYSCHONDROSTEOSISC0265309
LERI-WEILL DYSCHONDROSTEOSISC0265309
LERI-WEILL DYSCHONDROSTEOSISC0265309
DYSCHONDROSTEOSISC0265309
DCOC0265309
LWDC0265309
NEVUS SEBACEUS OF JADASSOHNC0265318
SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROMEC0265318
JADASSOHN NEVUS PHAKOMATOSISC0265318
SEBACEOUS NEVUS SYNDROME, LINEARC0265318
LINEAR SEBACEOUS NEVUS SYNDROMEC0265318
ORGANOID NEVUS PHAKOMATOSISC0265318
JNPC0265318
SFM SYNDROMEC0265318
EPIDERMAL NEVUS SYNDROME, FORMERLYC0265318
ADENOMA SEBACEUMC0265319
Facial angiofibromasC0265319
TURCOT SYNDROMEC0265325
MALIGNANT TUMORS OF THE CENTRAL NERVOUS SYSTEM ASSOCIATED WITH FAMILIAL POLYPOSIS OF THE COLONC0265325
BANNAYAN-RILEY-RUVALCABA SYNDROMEC0265326
BANNAYAN-RILEY-RUVALCABA SYNDROMEC0265326
BANNAYAN-RILEY-RUVALCABA SYNDROMEC0265326
MACROCEPHALY, MULTIPLE LIPOMAS, AND HEMANGIOMATAC0265326
RILEY-SMITH SYNDROMEC0265326
BANNAYAN-ZONANA SYNDROMEC0265326
RMSSC0265326
RUVALCABA-MYHRE-SMITH SYNDROMEC0265326
BZSC0265326
MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATAC0265326
BRRSC0265326
TRICHODENTOOSSEOUS SYNDROMEC0265333
TDO SYNDROMEC0265333
COFFIN-SIRIS SYNDROMEC0265338
FIFTH DIGIT SYNDROMEC0265338
BORJESON-FORSSMAN-LEHMANN SYNDROMEC0265339
BORJESON SYNDROMEC0265339
BFLSC0265339
BORJC0265339
MENTAL DEFICIENCY, EPILEPSY, AND ENDOCRINE DISORDERSC0265339
Rieger anomalyC0265341
IRIDOGONIODYSGENESIS WITH SOMATIC ANOMALIESC0265341
RGSC0265341
RIEGER SYNDROME, TYPE 1C0265341
RIEGC0265341
RIEG1C0265341
CEREBROCOSTOMANDIBULAR SYNDROMEC0265342
CCMSC0265342
CCM SYNDROMEC0265342
RIB GAP DEFECTS WITH MICROGNATHIAC0265342
JARCHO-LEVIN SYNDROMEC0265343
Vertebral anomaliesC0265343
VERTEBRAL ANOMALIESC0265343
SPONDYLOTHORACIC DYSPLASIAC0265343
SCDO1C0265343
SPONDYLOTHORACIC DYSOSTOSISC0265343
COSTOVERTEBRAL DYSPLASIAC0265343
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 1C0265343
DONOHUE SYNDROMEC0265344
LEPRECHAUNISMC0265344
LYMPHEDEMA-DISTICHIASIS SYNDROMEC0265345
LYMPHEDEMA WITH DISTICHIASISC0265345
DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIESC0265349
MOORE-FEDERMAN SYNDROMEC0265349
POLYSPLENIA SYNDROMEC0265357
FETAL HYDANTOIN SYNDROMEC0265372
FHSC0265372
GERMAN SYNDROMEC0265373
MONOSOMY 9p SYNDROMEC0265425
PALLISTER-KILLIAN SYNDROMEC0265449
ISOCHROMOSOME 12p SYNDROMEC0265449
TETRASOMY 12p, MOSAICC0265449
PKSC0265449
POLYCYSTIN 1C0256073
CAT EYE SYNDROMEC0265493
CESC0265493
SCHMID-FRACCARO SYNDROMEC0265493
CHROMOSOME 22 PARTIAL TETRASOMYC0265493
INV DUP(22)(q11)C0265493
Osteopathia striataC0265513
BOSC0265514
BUSCHKE-OLLENDORFF SYNDROMEC0265514
OSTEOPATHIA CONDENSANS DISSEMINATAC0265514
DERMATOFIBROSIS LENTICULARIS DISSEMINATA WITH OSTEOPOIKILOSISC0265514
DERMATOOSTEOPOIKILOSISC0265514
DERMATOFIBROSIS, DISSEMINATED, WITH OSTEOPOIKILOSISC0265514
PlagiocephalyC0265529
ScaphocephalyC0265534
SCAPHOCEPHALYC0265534
SCAPHOCEPHALYC0265534
TrigonocephalyC0265535
Lacunar skullC0265537
Cranium bifidumC0265541
AnisomeliaC0265550
MEGALODACTYLYC0265552
MacrodactylyC0265552
MACRODACTYLYC0265552
EctrodactylyC0265554
ECTRODACTYLYC0265554
ECTRODACTYLYC0265554
ABSENCE OF FINGERSC0265554
ECDC0265554
SHFD1C0265554
SHFM1C0265554
SHSF1C0265554
SPLIT-HAND/FOOT MALFORMATION 1C0265554
SPLIT-HAND DEFORMITYC0265554
SPLIT-HAND/FOOT DEFORMITY 1C0265554
BrachyphalangiaC0265556
ACHEIROPODIAC0265559
ACHPC0265559
ACHEIROPODYC0265559
ACHEIROPODY, BRAZILIAN TYPEC0265559
CLAVICLE, PSEUDARTHROSIS OF, CONGENITALC0265565
Clubbed handC0265596
Bifid thumbC0265608
Supernumerary carpal bonesC0265609
ClinodactylyC0265610
Cubitus valgusC0265611
TIBIAL HEMIMELIAC0265633
TIBIA, ABSENCE OFC0265633
THMC0265633
Talipes equinovalgusC0265642
Talipes calcaneusC0265645
Metatarsus varusC0265647
Metatarsus adductusC0265648
Toe syndactylyC0265660
Absence of patellaC0265667
HemivertebraeC0265677
HemivertebraC0265677
Supernumerary vertebraeC0265681
Rib fusionC0265695
Bifid ribsC0265695
GastroschisisC0265706
GASTROSCHISISC0265706
LUNG AGENESISC0265780
Pulmonary agenesisC0265780
Pulmonary hypoplasiaC0265783
Lung hypoplasiaC0265783
EMPHYSEMA, CONGENITAL LOBARC0265797
CLEC0265797
Absent pulmonary valveC0265831
UHL ANOMALYC0265857
Overriding aortaC0265886
Absent pulmonary arteryC0265905
Pulmonary artery hypoplasiaC0265910
Persistent left superior vena cavaC0265931
ERYTHROKERATODERMIA VARIABILISC0265961
ERYTHROKERATODERMIA VARIABILISC0265961
ERYTHROKERATODERMIA FIGURATA, CONGENITAL FAMILIAL, IN PLAQUESC0265961
EKVC0265961
Ichthyosis linearis circumflexaC0265962
NETHERTON DISEASEC0265962
NETHERTON SYNDROMEC0265962
NSC0265962
NETHC0265962
MUTILATING KERATODERMAC0265964
KHMC0265964
DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF FINGERS AND TOESC0265964
KERATODERMA HEREDITARIUM MUTILANSC0265964
VOHWINKEL SYNDROMEC0265964
DYSKERATOSIS, HEREDITARY BENIGN INTRAEPITHELIALC0265966
DKBIC0265966
ACROKERATOSIS VERRUCIFORMISC0265971
AKVC0265971
HOPF DISEASEC0265971
CollagenomasC0265978
NEVUS ANEMICUSC0265982
ALOPECIA, CONGENITALC0265992
Congenital hypotrichosisC0265993
ANONYCHIAC0265998
AnonychiaC0265998
ANONYCHIA CONGENITAC0265998
HYPONYCHIA CONGENITAC0265998
Subungual fibromataC0266003
KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESSC0266004
BART-PUMPHREY SYNDROMEC0266004
BJORNSTAD SYNDROMEC0266006
PTDC0266006
BJSC0266006
PILI TORTI AND NERVE DEAFNESSC0266006
POLYMASTIAC0266010
POLYTHELIA, FAMILIALC0266010
Accessory nippleC0266011
ACCESSORY NIPPLESC0266011
Accessory nipplesC0266011
NIPPLES, SUPERNUMERARYC0266011
Supernumerary nipplesC0266011
Supernumerary nippleC0266011
Mammary gland hypoplasiaC0266013
Breast hypoplasiaC0266013
DENS EVAGINATUSC0266034
MacrodontiaC0266036
Peg-shaped teethC0266037
Conical teethC0266037
TAURODONTISMC0266039
TaurodontismC0266039
Neonatal teethC0266049
Retained deciduous teethC0266050
Persistent primary teethC0266050
Premature loss of primary teethC0266052
Premature tooth eruptionC0266054
Premature eruption of teethC0266054
Anterior crossbiteC0266058
Posterior crossbiteC0266059
Anterior openbiteC0266060
Open anterior biteC0266060
PROGNATHISM, MANDIBULARC0266075
Mandibular prognathismC0266075
Prominent chinC0266075
`HAPSBURG JAW`C0266075
`HABSBURG JAW`C0266075
Mandibular retrognathismC0266077
Absent uvulaC0266121
UVULA, BIFIDC0266122
Bifid uvulaC0266122
bifid uvulaC0266122
Cleft uvulaC0266122
UVULA, CLEFTC0266122
MicrogastriaC0266150
PYLORIC ATRESIAC0266159
DUODENAL ATRESIAC0266174
Duodenal atresiaC0266174
JEJUNAL ATRESIAC0266175
APPLE PEEL SYNDROMEC0266175
APPLE PEEL SMALL BOWEL SYNDROMEC0266175
APSBC0266175
COLONIC ATRESIAC0266190
MICROCOLONC0266200
MicrocolonC0266200
ANORECTAL ANOMALIESC0266215
Ectopic anusC0266231
GALLBLADDER, AGENESIS OFC0266251
Agenesis of the gallbladderC0266251
THYROID, ECTOPICC0266283
Lingual thyroidC0266284
Renal anomaliesC0266292
Solitary kidneyC0266294
Unilateral kidney agenesisC0266294
Unilateral renal agenesisC0266294
Renal hypoplasiaC0266295
Hypoplastic kidneyC0266295
Hypoplastic kidneysC0266295
Kidney duplicationC0266304
RENAL TUBULAR DYSGENESISC0266313
Renal dysplasiaC0266313
PRIMITIVE RENAL TUBULE SYNDROMEC0266313
Dysplastic kidneyC0266313
Dysplastic kidneysC0266313
RTDC0266313
Absence of uretersC0266326
Urethral valvesC0266345
Persistent urachusC0266357
HERMAPHRODITISM, TRUEC0266361
HERMAPHRODITISM, TRUEC0266361
OvotestisC0266361
Ambiguous genitaliaC0266362
Streak ovariesC0266371
UTERINE ANOMALIESC0266383
Uterine abnormalitiesC0266383
Agenesis of uterusC0266384
Bicornuate uterusC0266387
bicornuate uterusC0266387
Uterus didelphysC0266393
Uterine hypoplasiaC0266399
Double vaginaC0266410
Septate vaginaC0266411
Testicular hypoplasiaC0266425
TESTICULAR REGRESSION SYNDROMEC0266427
XY GONADAL AGENESIS SYNDROMEC0266427
TESTICULAR REGRESSION, EMBRYONICC0266427
TRSC0266427
ANORCHIA, FAMILIALC0266427
LEYDIG CELL AGENESISC0266432
MicropenisC0266435
MICROPENISC0266435
Atresia of the vas deferensC0266445
Brain malformationsC0266449
MeningoencephaloceleC0266456
LissencephalyC0266463
PolymicrogyriaC0266464
MicrogyriaC0266464
CEREBELLAR HYPOPLASIAC0266470
Cerebellar hypoplasiaC0266470
Hypoplasia of cerebellumC0266470
Aqueduct of Sylvius stenosisC0266476
COLLOID CYSTS OF THIRD VENTRICLEC0266481
NEUROEPITHELIAL CYSTS OF THIRD VENTRICLEC0266481
MegalencephalyC0266482
MEGALENCEPHALYC0266482
MEGALENCEPHALYC0266482
MACROCEPHALYC0266482
PachygyriaC0266483
MacrogyriaC0266483
SCHIZENCEPHALYC0266484
MARCUS GUNN PHENOMENONC0266521
JAW-WINKINGC0266521
MAXILLOPALPEBRAL SYNKINESISC0266521
NORRIE DISEASEC0266526
NDC0266526
ATROPHIA BULBORUM HEREDITARIAC0266526
EPISKOPI BLINDNESSC0266526
CTMC0266537
CATARACT, LAMELLARC0266537
CATARACT, ZONULARC0266537
PERINUCLEAR CATARACTC0266537
CATARACT, TOTAL CONGENITALC0266539
CCC0266539
MicrophakiaC0266541
MicrocorneaC0266544
MicrocorneasC0266544
Anterior chamber anomaliesC0266546
Axenfeld anomalyC0266548
Coloboma of irisC0266551
Absent eyelidsC0266574
EAR MALFORMATIONC0266589
Ear anomaliesC0266589
External auditory canal atresiaC0266597
Preauricular tagC0266609
Preauricular tagsC0266609
Preauricular pitC0266610
Preauricular pitsC0266610
Lop earsC0266614
Facial dysmorphismC0266617
Potter faciesC0266619
Preauricular sinusC0266625
Preauricular sinusesC0266625
Accessory spleenC0266631
Accessory spleensC0266631
PolyspleniaC0266631
Supernumerary spleenC0266631
Splenogonadal fusionC0266636
Situs abdominalis inversusC0266644
CYCLOPIAC0266667
SynophthalmiaC0266667
Short umbilical cordC0266786
VISCERAL MYOPATHY, FAMILIALC0266833
PERIODONTITIS, ADULTC0266929
Ankylosis of temporomandibular jointC0266940
Ankylosis of the temporomandibular jointsC0266940
Torus palatinusC0266981
CHEILITIS GLANDULARISC0267034
GlossoptosisC0267048
Intestinal bleedingC0267373
Mesenteric thrombosisC0267412
Mesenteric vein thrombosisC0267412
Diarrhea, secretoryC0267557
Perirectal abscessesC0267566
Rectal bleedingC0267596
DIARRHEA 1, SECRETORY CHLORIDE, CONGENITALC0267662
CHLORIDORRHEA, CONGENITALC0267662
DIAR1C0267662
DIARRHEA 3, SECRETORY SODIUM, CONGENITALC0267663
SODIUM DIARRHEA, CONGENITALC0267663
DIAR3C0267663
Paraesophageal herniaC0267725
CIRRHOSIS, CRYPTOGENICC0267809
Micronodular cirrhosisC0267812
Bile duct proliferationC0267818
Hepatic cystsC0267834
Pancreatic fibrosisC0267952
Exocrine pancreatic insufficiencyC0267963
HEMOCHROMATOSIS, NEONATALC0268059
NHC0268059
NHCC0268059
GIANT CELL HEPATITIS, FORMERLYC0268059
NEONATAL HEPATITIS, FORMERLYC0268059
HEMOCHROMATOSIS, JUVENILEC0268060
JHC0268060
HFE2C0268060
HEMOCHROMATOSIS, TYPE 2C0268060
IRON OVERLOAD IN AFRICAC0268063
BANTU SIDEROSISC0268063
AFRICAN IRON OVERLOADC0268063
Hepatic hemosiderosisC0268066
INDIAN CHILDHOOD CIRRHOSISC0268074
CIRRHOSIS, FAMILIAL, WITH PULMONARY HYPERTENSIONC0268074
ICCC0268074
HyperphosphaturiaC0268079
HYPERCALCEMIA, IDIOPATHIC, OF INFANCYC0268080
UricaciduriaC0268105
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILEC0268113
FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHYC0268113
NEPHROPATHY, FAMILIAL, WITH GOUTC0268113
GOUTY NEPHROPATHY, FAMILIAL JUVENILEC0268113
FJHNC0268113
HNFJC0268113
GOUT, HPRT-RELATEDC0268117
KELLEY-SEEGMILLER SYNDROMEC0268117
HPRT DEFICIENCY, PARTIALC0268117
HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1 DEFICIENCY, PARTIALC0268117
HPRT1 DEFICIENCY, PARTIALC0268117
XANTHINURIA, TYPE IC0268118
XANTHINE OXIDASE DEFICIENCYC0268118
XANTHINE DEHYDROGENASE DEFICIENCYC0268118
XDH DEFICIENCYC0268118
MOLYBDENUM COFACTOR DEFICIENCYC0268119
MOCODC0268119
SULFITE OXIDASE, XANTHINE DEHYDROGENASE, AND ALDEHYDE OXIDASE, COMBINED DEFICIENCY OFC0268119
APRT DEFICIENCYC0268120
NUCLEOSIDE PHOSPHORYLASE DEFICIENCYC0268125
ADENYLOSUCCINASE DEFICIENCYC0268126
ADENYLOSUCCINATE LYASE DEFICIENCYC0268126
OroticaciduriaC0268128
OROTIC ACIDURIA IIC0268131
OMP DECARBOXYLASE DEFICIENCYC0268131
OROTIDYLIC DECARBOXYLASE DEFICIENCYC0268131
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP BC0268136
XPBC0268136
XP, GROUP BC0268136
XPBCC0268136
XPB/CSC0268136
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP DC0268138
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP DC0268138
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP DC0268138
XP, GROUP DC0268138
XP4C0268138
XPDC0268138
XPDCC0268138
XERODERMA PIGMENTOSUM IVC0268138
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP FC0268140
XPFC0268140
XERODERMA PIGMENTOSUM VIC0268140
XP, GROUP FC0268140
XP6C0268140
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP GC0268141
XPGC0268141
XPGCC0268141
XP7C0268141
XERODERMA PIGMENTOSUM VIIC0268141
XP, GROUP GC0268141
GLUCOSE-6-PHOSPHATE TRANSPORT DEFECTC0268146
GLYCOGEN STORAGE DISEASE IbC0268146
GSD1BC0268146
FANCONI-BICKEL SYNDROMEC0268150
PSEUDO-PHLORIZIN DIABETESC0268150
FBSC0268150
HEPATIC GLYCOGENOSIS WITH AMINO ACIDURIA AND GLUCOSURIAC0268150
HEPATORENAL GLYCOGENOSIS WITH RENAL FANCONI SYNDROMEC0268150
GLYCOGENOSIS, FANCONI TYPEC0268150
FANCONI SYNDROME WITH INTESTINAL MALABSORPTION AND GALACTOSE INTOLERANCEC0268150
GLYCOGEN STORAGE DISEASE XIC0268150
HEPATIC GLYCOGENOSIS WITH FANCONI NEPHROPATHYC0268150
Galactose-1-phosphate uridyltransferase deficiencyC0268151
GALACTOKINASE DEFICIENCYC0268155
GALACTOSEMIA IIC0268155
GALK DEFICIENCYC0268155
GalactosuriaC0268157
PENTOSURIAC0268162
XYLITOL DEHYDROGENASE DEFICIENCYC0268162
L-XYLULOSE REDUCTASE DEFICIENCYC0268162
L-XYLULOSURIAC0268162
HYPEROXALURIA, PRIMARY, TYPE IC0268164
GLYCOLIC ACIDURIAC0268164
ALANINE-GLYOXYLATE AMINOTRANSFERASE DEFICIENCYC0268164
HP1C0268164
OXALOSIS IC0268164
SERINE:PYRUVATE AMINOTRANSFERASE DEFICIENCYC0268164
HEPATIC AGT DEFICIENCYC0268164
PEROXISOMAL ALANINE:GLYOXYLATE AMINOTRANSFERASE DEFICIENCYC0268164
HYPEROXALURIA, PRIMARY, TYPE IIC0268165
D-GLYCERATE DEHYDROGENASE DEFICIENCYC0268165
OXALOSIS IIC0268165
GLYCERIC ACIDURIAC0268165
GLYOXYLATE REDUCTASE/HYDROXYPYRUVATE REDUCTASE DEFICIENCYC0268165
HP2C0268165
LACTASE DEFICIENCY, CONGENITALC0268179
DISACCHARIDE INTOLERANCE IIC0268179
ALACTASIA, HEREDITARYC0268179
LACTASE NONPERSISTENCEC0268181
DISACCHARIDE INTOLERANCE IIIC0268181
ADULT LACTASE DEFICIENCYC0268181
GLUCOSE/GALACTOSE MALABSORPTIONC0268186
GMC0268186
MONOSACCHARIDE MALABSORPTIONC0268186
GGMC0268186
TREHALASE DEFICIENCYC0268187
DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCYC0268193
LACTIC ACIDOSIS, CONGENITAL INFANTILE, DUE TO LAD DEFICIENCYC0268193
AspartylglucosaminuriaC0268225
CHERRY RED SPOT--MYOCLONUS SYNDROMEC0268226
MYOCLONUS--CHERRY RED SPOT SYNDROMEC0268226
SIALIDASE DEFICIENCYC0268226
MUCOLIPIDOSIS IC0268226
NEURAMINIDASE DEFICIENCYC0268226
ML IC0268226
NEU1 DEFICIENCYC0268226
NEUG DEFICIENCYC0268226
NEU DEFICIENCYC0268226
SIALIDOSIS, TYPE IIC0268226
NEURAMINIDASE 1 DEFICIENCYC0268226
GLYCOPROTEIN NEURAMINIDASE DEFICIENCYC0268226
NEPHROSIALIDOSISC0268232
CYTOCHROME c OXIDASE DEFICIENCYC0268237
CYTOCHROME c OXIDASE DEFICIENCYC0268237
COX DEFICIENCYC0268237
MITOCHONDRIAL COMPLEX IV DEFICIENCYC0268237
MITOCHONDRIAL COMPLEX IV DEFICIENCYC0268237
MITOCHONDRIAL COMPLEX IV DEFICIENCYC0268237
MTCO1*COX6480AC0268237
CHANARIN-DORFMAN SYNDROMEC0268238
DORFMAN-CHANARIN SYNDROMEC0268238
CHANARIN-DORFMAN DISEASEC0268238
ICHTHYOTIC NEUTRAL LIPID STORAGE DISEASEC0268238
ICHTHYOSIFORM ERYTHRODERMA WITH LEUKOCYTE VACUOLATIONC0268238
CDSC0268238
DCSC0268238
TRIGLYCERIDE STORAGE DISEASE WITH IMPAIRED LONG-CHAIN FATTY ACID OXIDATIONC0268238
NEUTRAL LIPID STORAGE DISEASE WITH ICHTHYOSISC0268238
NLSDIC0268238
NIEMANN-PICK DISEASE, TYPE AC0268242
SPHINGOMYELIN LIPIDOSISC0268242
SPHINGOMYELINASE DEFICIENCYC0268242
NIEMANN-PICK DISEASE, TYPE BC0268243
NIEMANN-PICK DISEASE, TYPE DC0268247
NIEMANN-PICK DISEASE, TYPE EC0268248
GAUCHER DISEASE, TYPE IIC0268250
GAUCHER DISEASE, TYPE IIC0268250
GAUCHER DISEASE, TYPE IIC0268250
GAUCHER DISEASE, TYPE IIC0268250
GAUCHER DISEASE, TYPE IIC0268250
GAUCHER DISEASE, TYPE IIC0268250
GD IIC0268250
GAUCHER DISEASE, ACUTE NEURONOPATHIC TYPEC0268250
GAUCHER DISEASE, TYPE IIIC0268251
GAUCHER DISEASE, TYPE IIIC0268251
GAUCHER DISEASE, TYPE IIIC0268251
GAUCHER DISEASE, TYPE IIIC0268251
GAUCHER DISEASE, TYPE IIIC0268251
GAUCHER DISEASE, TYPE IIIC0268251
GAUCHER DISEASE, TYPE IIIC0268251
GAUCHER DISEASE, TYPE IIIC0268251
GAUCHER DISEASE, TYPE IIIC0268251
GD IIIC0268251
GAUCHER DISEASE, SUBACUTE NEURONOPATHIC TYPEC0268251
GAUCHER DISEASE, CHRONIC NEURONOPATHIC TYPEC0268251
GAUCHER DISEASE, JUVENILE AND ADULT, CEREBRALC0268251
SAP1 DEFICIENCYC0268262
SPHINGOLIPID ACTIVATOR PROTEIN 1, DEFICIENCY OFC0268262
SAPOSIN B DEFICIENCYC0268262
MULTIPLE SULFATASE DEFICIENCYC0268263
MUCOSULFATIDOSISC0268263
MSDC0268263
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 1C0268271
GM1-GANGLIOSIDOSIS, TYPE IC0268271
GM1-GANGLIOSIDOSIS, TYPE IC0268271
GM1-GANGLIOSIDOSIS, TYPE IC0268271
BETA-GALACTOSIDASE-1 DEFICIENCYC0268271
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE IC0268271
GLB1 DEFICIENCYC0268271
GANGLIOSIDOSIS, GENERALIZED GM1, INFANTILE FORMC0268271
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 2C0268272
GM1-GANGLIOSIDOSIS, TYPE IIC0268272
GANGLIOSIDOSIS, GENERALIZED GM1, JUVENILE TYPEC0268272
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE IIC0268272
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 3C0268273
GM1-GANGLIOSIDOSIS, TYPE IIIC0268273
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE IIIC0268273
GANGLIOSIDOSIS, GENERALIZED GM1, CHRONIC TYPEC0268273
GANGLIOSIDOSIS, GENERALIZED GM1, ADULT TYPEC0268273
NEURONAL CEROID LIPOFUSCINOSIS, INFANTILEC0268281
SANTAVUORI DISEASEC0268281
SANTAVUORI-HALTIA DISEASEC0268281
INCLC0268281
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCYC0268285
[email protected] DEFICIENCYC0268285
17,[email protected] DEFICIENCY, ISOLATEDC0268285
[email protected]/17,20-LYASE DEFICIENCY, COMBINED PARTIALC0268285
ADRENAL HYPERPLASIA VC0268285
[email protected]/17,20-LYASE DEFICIENCY, COMBINED COMPLETEC0268285
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCYC0268292
[email protected] DEFICIENCYC0268292
STEROID 11-BETA-HYDROXYLASE DEFICIENCYC0268292
ADRENAL HYPERPLASIA IVC0268292
ADRENAL HYPERPLASIA, HYPERTENSIVE FORMC0268292
P450C11B1 DEFICIENCYC0268292
CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCYC0268293
[email protected] DEFICIENCYC0268293
CMO I DEFICIENCYC0268293
CMO II DEFICIENCYC0268293
ALDOSTERONE DEFICIENCY DUE TO DEFICIENCY OF STEROID 18-OXIDASEC0268293
FHHA1BC0268293
[email protected] DEFICIENCYC0268293
ALDOSTERONE DEFICIENCY DUE TO DEFECT IN STEROID 18-HYDROXYLASEC0268293
ALDOSTERONE DEFICIENCY IIC0268293
HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 1C0268293
HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 1C0268293
FHHA1AC0268293
ALDOSTERONE DEFICIENCY IC0268293
STEROID [email protected] DEFICIENCYC0268293
STEROID 18-OXIDASE DEFICIENCYC0268293
CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCYC0268293
[email protected] HYDROXYSTEROID DEHYDROGENASE III DEFICIENCYC0268296
NEUTRAL 17-BETA-HYDROXYSTEROID OXIDOREDUCTASE DEFICIENCYC0268296
[email protected] DEFICIENCYC0268296
[email protected] REDUCTASE DEFICIENCY OF TESTISC0268296
PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIAC0268296
PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIASC0268297
FAMILIAL INCOMPLETE MALE PSEUDOHERMAPHRODITISM, TYPE 2C0268297
PPSHC0268297
MALE PSEUDOHERMAPHRODITISM DUE TO 5-ALPHA-REDUCTASE DEFICIENCYC0268297
REIFENSTEIN SYNDROMEC0268301
ANDROGEN INSENSITIVITY, PARTIALC0268301
ANDROGEN INSENSITIVITY, PARTIALC0268301
MET807THRC0268301
INFERTILE MALE SYNDROMEC0268302
AZOOSPERMIA OR SEVERE OLIGOSPERMIA IN OTHERWISE NORMAL MEN DUE TO ANDROGEN INSENSITIVITYC0268302
Conjugated hyperbilirubinemiaC0268307
CRIGLER-NAJJAR SYNDROME, TYPE IIC0268311
CRIGLER-NAJJAR SYNDROME, TYPE IIC0268311
CRIGLER-NAJJAR SYNDROME, TYPE IIC0268311
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1C0268312
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1C0268312
CHOLESTASIS, FATAL INTRAHEPATICC0268312
PFIC1C0268312
BYLER DISEASEC0268312
AAGENAES SYNDROMEC0268314
CHOLESTASIS-LYMPHEDEMA SYNDROMEC0268314
LYMPHEDEMA-CHOLESTASIS SYNDROMEC0268314
LCSC0268314
CHLSC0268314
LCS1C0268314
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCYC0268318
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCYC0268318
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCYC0268318
RECURRENT INTRAHEPATIC CHOLESTASIS OF PREGNANCYC0268318
RICPC0268318
ICPC0268318
CHOLESTASIS, PREGNANCY-RELATEDC0268318
PORPHYRIA, CHESTER TYPEC0268322
PORCC0268322
PORPHOBILINOGEN SYNTHASE DEFICIENCYC0268328
EHLERS-DANLOS SYNDROME, TYPE IC0268335
EHLERS-DANLOS SYNDROME, GRAVIS TYPEC0268335
EDS IC0268335
EDS1C0268335
EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPEC0268335
EHLERS-DANLOS SYNDROME, TYPE IIC0268336
EHLERS DANLOS SYNDROME, MITIS TYPEC0268336
EHLERS DANLOS SYNDROME, MILD CLASSIC TYPEC0268336
EDS2C0268336
EDS IIC0268336
EHLERS-DANLOS SYNDROME, TYPE IIIC0268337
BENIGN HYPERMOBILITY SYNDROMEC0268337
EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPEC0268337
EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPEC0268337
EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPEC0268337
EDS IIIC0268337
EDS3C0268337
EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANTC0268338
EDS IVC0268338
EHLERS-DANLOS SYNDROME, ECCHYMOTIC TYPEC0268338
EHLERS-DANLOS SYNDROME, VASCULAR TYPEC0268338
EDS4C0268338
EHLERS-DANLOS SYNDROME, ARTERIAL TYPEC0268338
EHLERS-DANLOS SYNDROME, SACK-BARABAS TYPEC0268338
EHLERS-DANLOS SYNDROME, TYPE VC0268341
EDS VC0268341
EDS5C0268341
EHLERS-DANLOS SYNDROME, TYPE VIC0268342
EDS VIC0268342
EDS6C0268342
EHLERS-DANLOS SYNDROME, TYPE VIAC0268342
EDS6AC0268342
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPEC0268342
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPEC0268342
EDS VIAC0268342
EHLERS-DANLOS SYNDROME, OCULOSCOLIOTIC TYPEC0268342
EHLERS-DANLOS SYNDROME, TYPE VIBC0268344
FRAGILITAS OCULI WITH JOINT HYPEREXTENSIBILITYC0268344
EDS VIBC0268344
CORNEAL FRAGILITY, KERATOGLOBUS, BLUE SCLERAE, JOINT HYPEREXTENSIBILITYC0268344
BRITTLE CORNEA SYNDROMEC0268344
EDS6BC0268344
EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVEC0268345
ARTHROCHALASIS MULTIPLEX CONGENITAC0268345
DERMATOSPARAXISC0268345
EDS VIIAC0268345
EDS7C0268345
EDS7B, FORMERLYC0268345
EDS8CC0268345
EDS VIICC0268345
EDS VIIB, FORMERLYC0268345
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPEC0268345
EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANTC0268345
EDS VII, MUTANT PROCOLLAGEN TYPEC0268345
EDS7AC0268345
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPEC0268345
EHLERS-DANLOS SYNDROME, TYPE VIIIC0268347
EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPEC0268347
EDS8C0268347
EHLERS-DANLOS SYNDROME, PERIODONTOSIS TYPEC0268347
EDS VIIIC0268347
JOINT LAXITY, FAMILIALC0268349
FAMILIAL JOINT INSTABILITY SYNDROMEC0268349
EDS11, FORMERLYC0268349
EDS XI, FORMERLYC0268349
ARTICULAR HYPERMOBILITY SYNDROMEC0268349
EHLERS-DANLOS SYNDROME, TYPE XI, FORMERLYC0268349
CUTIS LAXA, AUTOSOMAL DOMINANTC0268350
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC0268351
CUTIS LAXA, AUTOSOMAL RECESSIVEC0268351
HEMOLYTIC ANEMIA, CONGENITAL, WITH EMPHYSEMA AND CUTIS LAXAC0268352
CUTIS LAXA, EMPHYSEMA, AND HEMOLYTIC ANEMIAC0268352
EMPHYSEMA AND HEMOLYTIC ANEMIAC0268352
CUTIS LAXA, X-LINKEDC0268353
OHSC0268353
OCCIPITAL HORN SYNDROMEC0268353
EHLERS-DANLOS SYNDROME, OCCIPITAL HORN TYPE, FORMERLYC0268353
EDS IX, FORMERLYC0268353
EDS9, FORMERLYC0268353
CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATIONC0268354
DE BARSY SYNDROMEC0268354
PROGEROID SYNDROME OF DE BARSYC0268354
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC0268355
CUTIS LAXA WITH BONE DYSTROPHYC0268355
CUTIS LAXA WITH JOINT LAXITY AND RETARDED DEVELOPMENTC0268355
CUTIS LAXA WITH GROWTH AND DEVELOPMENTAL DELAYC0268355
OSTEOGENESIS IMPERFECTA WITH OPALESCENT TEETHC0268357
OSTEOGENESIS IMPERFECTA, TYPE I, WITH DENTINOGENESIS IMPERFECTAC0268357
OI TYPE IAC0268357
VROLIK TYPE OF OSTEOGENESIS IMPERFECTAC0268360
OSTEOGENESIS IMPERFECTA, TYPE IIAC0268360
OSTEOGENESIS IMPERFECTA CONGENITAC0268360
OI, TYPE IIC0268360
OSTEOGENESIS IMPERFECTA CONGENITA, PERINATAL LETHAL FORMC0268360
OICC0268360
OI, TYPE IIAC0268360
OI2AC0268360
OSTEOGENESIS IMPERFECTA, TYPE IIIC0268362
OSTEOGENESIS IMPERFECTA, TYPE IIIC0268362
OSTEOGENESIS IMPERFECTA, PROGRESSIVELY DEFORMING, WITH NORMAL SCLERAEC0268362
OI, TYPE IIIC0268362
OI3C0268362
OSTEOGENESIS IMPERFECTA, TYPE IVC0268363
OSTEOGENESIS IMPERFECTA, TYPE IVC0268363
OI4C0268363
OSTEOGENESIS IMPERFECTA WITH NORMAL SCLERAEC0268363
OI, TYPE IVC0268363
MARFANOID HYPERMOBILITY SYNDROMEC0268365
EPIDERMOLYSIS BULLOSA DYSTROPHICA NEUROTROPHICAC0268368
EPIDERMOLYSIS BULLOSA PROGRESSIVA, RECESSIVEC0268368
EPIDERMOLYSIS BULLOSA WITH CONGENITAL DEAFNESSC0268368
EBR3C0268368
EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILSC0268371
EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPEC0268371
EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGNC0268374
EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGNC0268374
EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGNC0268374
EPIDERMOLYSIS BULLOSA JUNCTIONALIS, DISENTIS TYPEC0268374
EPIDERMOLYSIS BULLOSA JUNCTIONALIS, PROGRESSIVEC0268374
EPIDERMOLYSIS BULLOSA JUNCTIONALIS, SEVERE NONLETHALC0268374
GABEBC0268374
PSEUDOCHOLINESTERASE DEFICIENCYC0268379
AMYLOIDOSIS, PRIMARYC0268381
ALC0268381
Renal amyloidosisC0268382
AMYLOIDOSIS, FAMILIAL VISCERALC0268389
AMYLOIDOSIS, FAMILIAL RENALC0268389
GERMAN TYPE AMYLOIDOSISC0268389
AMYLOIDOSIS VIIIC0268389
AMYLOIDOSIS, SYSTEMIC NONNEUROPATHICC0268389
OSTERTAG TYPE AMYLOIDOSISC0268389
MUCKLE-WELLS SYNDROMEC0268390
MUCKLE-WELLS SYNDROMEC0268390
MWSC0268390
UDA SYNDROMEC0268390
URTICARIA-DEAFNESS-AMYLOIDOSIS SYNDROMEC0268390
CEREBRAL HEMORRHAGE WITH AMYLOIDOSIS, HEREDITARY, DUTCH TYPEC0268394
HCHWADC0268394
AMYLOIDOSIS, PRIMARY CUTANEOUSC0268397
PRIMARY LOCALIZED CUTANEOUS AMYLOIDOSISC0268397
PLCAC0268397
LICHEN AMYLOIDOSIS, FAMILIALC0268398
AMYLOIDOSIS IXC0268398
AMYLOIDOSIS, FAMILIAL CUTANEOUS LICHENC0268398
AMYLOIDOSIS, CUTANEOUS BULLOUSC0268399
ACID PHOSPHATASE DEFICIENCYC0268410
HYPOPHOSPHATASIA, INFANTILEC0268412
PhosphoethanolaminuriaC0268412
PHOSPHOETHANOLAMINURIAC0268412
HOPSC0268412
HYPOPHOSPHATASIA, ADULT TYPEC0268413
HYPOPHOSPHATASIA, MILDC0268413
HYPOPHOSPHATASIA, MILDC0268413
HYPERPHOSPHATASEMIA, CHRONIC CONGENITAL IDIOPATHICC0268414
HYPEROSTOSIS CORTICALIS DEFORMANS JUVENILISC0268414
PAGET DISEASE, JUVENILEC0268414
JUVENILE PAGET DISEASEC0268414
OSTEOECTASIA, FAMILIALC0268414
HYPERPHOSPHATASIA, FAMILIAL IDIOPATHICC0268414
JPDC0268414
ENTEROKINASE DEFICIENCYC0268416
ENTEROPEPTIDASE DEFICIENCYC0268416
GLYCEROL KINASE DEFICIENCYC0268418
GK1 DEFICIENCYC0268418
HYPERGLYCEROLEMIAC0268418
GKDC0268418
GK DEFICIENCYC0268418
ACATALASIAC0268419
ACATALASEMIAC0268419
CATALASE DEFICIENCYC0268419
ETHANOLAMINOSISC0268423
ETHANOLAMINE KINASE DEFICIENCYC0268423
ALSTROM SYNDROMEC0268425
ALSSC0268425
ALMSC0268425
ROWLEY-ROSENBERG SYNDROMEC0268426
GROWTH RETARDATION, PULMONARY HYPERTENSION, AND AMINO ACIDURIAC0268426
Renal tubular acidosis, proximalC0268435
RENAL TUBULAR ACIDOSIS, PROXIMALC0268435
Proximal renal tubular acidosisC0268435
RTA, PROXIMAL TYPEC0268435
RENAL TUBULAR ACIDOSIS IIC0268435
RTA, RATE TYPEC0268435
LUDER-SHELDON SYNDROMEC0268440
HYPOKALEMIA, FAMILIALC0268444
GULLNER SYNDROMEC0268444
HYPOKALEMIC ALKALOSIS, FAMILIAL, WITH SPECIFIC RENAL TUBULOPATHYC0268444
NORMOKALEMIC PERIODIC PARALYSISC0268445
THYROTOXIC PERIODIC PARALYSISC0268446
HASHITOXIC PERIODIC PARALYSISC0268446
HYPOMAGNESEMIA 3, PRIMARYC0268448
HYPOMAGNESEMIA, FAMILIAL, WITH HYPERCALCIURIA AND NEPHROCALCINOSISC0268448
HYPOMAGNESEMIA, ISOLATED RENALC0268448
HOMG3C0268448
HYPOMAGNESEMIA, PRIMARY MAGNESIUM, DEFECT IN RENAL TUBULAR TRANSPORT OFC0268448
GITELMAN SYNDROMEC0268450
HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIAC0268450
POTASSIUM AND MAGNESIUM DEPLETIONC0268450
GTP CYCLOHYDROLASE I DEFICIENCYC0268467
HYPERPHENYLALANINEMIA WITH NEOPTERIN DEFICIENCYC0268467
GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I DEFICIENCYC0268467
PHENYLKETONURIA, ATYPICAL SEVERE, DUE TO GTP CYCLOHYDROLASE I DEFICIENCYC0268467
GCH1 DEFICIENCYC0268467
BIOPTERIN DEFICIENCYC0268468
TRYPTOPHANURIA WITH DWARFISMC0268473
HYDROXYKYNURENINURIAC0268474
XANTHURENIC ACIDURIAC0268475
KYNURENINASE DEFICIENCYC0268476
BLUE DIAPER SYNDROMEC0268478
HYPERCALCEMIA, FAMILIAL, WITH NEPHROCALCINOSIS AND INDICANURIAC0268478
HOOFT DISEASEC0268479
TyrosinemiaC0268483
TYROSINOSISC0268484
Ochronotic arthritisC0268493
ALBINISM, OCULOCUTANEOUS, TYPE IAC0268494
ALBINISM IC0268494
OCULOCUTANEOUS ALBINISM, TYROSINASE-NEGATIVEC0268494
OCA1AC0268494
OCA1C0268494
ATNC0268494
OCULOCUTANEOUS ALBINISM, TYPE IC0268494
OCULOCUTANEOUS ALBINISM, TYPE IIC0268495
ALBINISM, OCULOCUTANEOUS, TYPE IIC0268495
ALBINISM IIC0268495
OCULOCUTANEOUS ALBINISM, TYROSINASE-POSITIVEC0268495
OCA2C0268495
OCULOCEREBRAL SYNDROME WITH HYPOPIGMENTATIONC0268496
CROSS SYNDROMEC0268496
KRAMER SYNDROMEC0268496
BROWN OCULOCUTANEOUS ALBINISMC0268497
BROWN OCULOCUTANEOUS ALBINISMC0268497
BOCAC0268497
BLACK LOCKS WITH ALBINISM AND DEAFNESS SYNDROMEC0268501
BADS SYNDROMEC0268501
ALAND ISLAND EYE DISEASEC0268505
FORSIUS-ERIKSSON TYPE OCULAR ALBINISMC0268505
AIEDC0268505
AlbinoidismC0268506
UROCANASE DEFICIENCYC0268514
[email protected] DEFICIENCYC0268525
OXOPROLINURIA DUE TO OXOPROLINASE DEFICIENCYC0268525
PROLINE OXIDASE DEFICIENCYC0268529
HYPERPROLINEMIA, TYPE IC0268529
HYPERPROLINEMIA, TYPE IIC0268530
[email protected] DEHYDROGENASE DEFICIENCYC0268530
HYDROXYPROLINEMIAC0268531
[email protected] OXIDASE DEFICIENCYC0268531
PROLIDASE DEFICIENCYC0268532
ProlinuriaC0268534
GLUCOGLYCINURIAC0268536
Pipecolic acidemiaC0268537
HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROMEC0268540
HHHSC0268540
HHHC0268540
HHH SYNDROMEC0268540
ORNITHINE TRANSLOCASE DEFICIENCYC0268540
ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCYC0268542
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TOC0268542
OTC DEFICIENCYC0268542
N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCYC0268543
N-ACETYLGLUTAMATE SYNTHASE DEFICIENCYC0268543
NAGS DEFICIENCYC0268543
HYPERAMMONEMIA DUE TO N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCYC0268543
ARGININOSUCCINIC ACIDURIAC0268547
ARGININOSUCCINASE DEFICIENCYC0268547
ARGININOSUCCINATE LYASE DEFICIENCYC0268547
ASL DEFICIENCYC0268547
ARGININOSUCCINIC ACID LYASE DEFICIENCYC0268547
HYPERARGININEMIAC0268548
ARGINASE DEFICIENCYC0268548
ARGININEMIAC0268548
ARG1 DEFICIENCYC0268548
HYPERLYSINEMIAC0268553
L-LYSINE:NAD-OXIDO-REDUCTASE DEFICIENCYC0268553
LYSINE:ALPHA-KETOGLUTARATE REDUCTASE DEFICIENCYC0268553
ALPHA-AMINOADIPIC SEMIALDEHYDE SYNTHASE DEFICIENCYC0268553
HYPERLYSINEMIA, PERIODICC0268555
HYPERLYSINURIA WITH HYPERAMMONEMIAC0268555
SACCHAROPINURIAC0268556
SACCHAROPINE DEHYDROGENASE DEFICIENCYC0268556
ALPHA-AMINOADIPIC SEMIALDEHYDE SYNTHASE DEFICIENCYC0268556
HyperglycinemiaC0268559
HYPERGLYCINEMIA, TRANSIENT NEONATALC0268560
TNHC0268560
SARCOSINEMIAC0268563
SARCOSINE DEHYDROGENASE COMPLEX, DEFICIENCY OFC0268563
HYPERSARCOSINEMIAC0268563
SARC0268563
SARD DEFICIENCYC0268563
SARDH DEFICIENCYC0268563
MAPLE SYRUP URINE DISEASE, CLASSICC0268568
MAPLE SYRUP URINE DISEASE, INTERMITTENTC0268569
VALINEMIAC0268573
VALINE TRANSAMINASE DEFICIENCYC0268573
HYPERVALINEMIAC0268573
HYPERLEUCINE-ISOLEUCINEMIAC0268574
IsovalericacidemiaC0268575
ISOVALERIC ACID CoA DEHYDROGENASE DEFICIENCYC0268575
ISOVALERIC ACIDEMIAC0268575
IVAC0268575
IVD DEFICIENCYC0268575
PROPIONIC ACIDEMIAC0268579
Propionyl-CoA carboxylase deficiencyC0268579
PROPIONYL-CoA CARBOXYLASE DEFICIENCYC0268579
GLYCINEMIA, KETOTICC0268579
KETOTIC HYPERGLYCINEMIAC0268579
PCC DEFICIENCYC0268579
HYPERGLYCINEMIA WITH KETOACIDOSIS AND LEUKOPENIAC0268579
Holocarboxylase synthetase deficiencyC0268581
HOLOCARBOXYLASE SYNTHETASE DEFICIENCYC0268581
MULTIPLE CARBOXYLASE DEFICIENCY, NEONATAL FORMC0268581
MULTIPLE CARBOXYLASE DEFICIENCY, EARLY ONSETC0268581
HLCS DEFICIENCYC0268581
Methylmalonic acidemiaC0268583
Methylmalonic aciduriaC0268583
Methylmalonyl-CoA mutase deficiencyC0268584
GA IC0268595
Glutaryl-CoA dehydrogenase deficiencyC0268595
GLUTARYL-CoA DEHYDROGENASE DEFICIENCYC0268595
GLUTARIC ACIDEMIA IC0268595
GLUTARIC ACIDURIA IC0268595
ETHYLMALONIC-ADIPICACIDURIAC0268596
EMAC0268596
GA IIC0268596
MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCYC0268596
MADDC0268596
GLUTARIC ACIDURIA IIC0268596
ACETYL-CoA CARBOXYLASE DEFICIENCYC0268603
ACC DEFICIENCYC0268603
ACAC DEFICIENCYC0268603
ACC1 DEFICIENCYC0268603
ACACA DEFICIENCYC0268603
GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCYC0268609
FORMIMINOGLUTAMIC ACIDURIAC0268609
FORMIMINOTRANSFERASE DEFICIENCYC0268609
FIGLU-URIAC0268609
CYSTATHIONASE DEFICIENCYC0268616
HomocystinemiaC0268617
CystathioninemiaC0268618
MAT DEFICIENCYC0268621
HypermethioninemiaC0268621
MethioninemiaC0268621
METHIONINE ADENOSYLTRANSFERASE DEFICIENCYC0268621
MAT I/III DEFICIENCYC0268621
HYPERMETHIONINEMIA, ISOLATED PERSISTENTC0268621
METHIONINE MALABSORPTION SYNDROMEC0268622
OASTHOUSE URINE DISEASEC0268622
SMITH-STRANG DISEASEC0268622
TYROSINEMIA, TYPE IIIC0268623
[email protected] DIOXYGENASE DEFICIENCYC0268623
HAWKINSINURIAC0268623
HawkinsinuriaC0268623
[email protected] ACID OXIDASE DEFICIENCYC0268623
SULFOCYSTEINURIAC0268624
SULFITE OXIDASE DEFICIENCYC0268624
CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPEC0268626
CYSTINOSIS, INTERMEDIATEC0268626
HYPER-BETA-ALANINEMIAC0268630
HYPERALANINEMIAC0268630
SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCYC0268631
GAMMA-HYDROXYBUTYRIC ACIDURIAC0268631
GABA METABOLIC DEFECTC0268631
[email protected] ACIDURIAC0268631
SSADH DEFICIENCYC0268631
HOMOCARNOSINOSISC0268632
CARNOSINASE DEFICIENCYC0268632
CARNOSINEMIAC0268632
HOMOCARNOSINASE DEFICIENCYC0268632
Cystinuria, type IC0268643
LYSINURIC PROTEIN INTOLERANCEC0268647
DIBASICAMINO ACIDURIA IIC0268647
LPIC0268647
IMINOGLYCINURIAC0268654
[email protected] DEFICIENCYC0268689
VITAMIN D-DEPENDENT RICKETS, TYPE IC0268689
VDD1C0268689
[email protected] DEFICIENCYC0268689
PDDR IC0268689
VDDR IC0268689
[email protected], 25-HYDROXYVITAMIN D3 DEFICIENCY, SELECTIVEC0268689
PSEUDOVITAMIN D-DEFICIENCY RICKETS, TYPE IC0268689
VITAMIN D DEPENDENCY, TYPE 1C0268689
VITAMIN D-DEPENDENT RICKETS, TYPE IIC0268690
GENERALIZED RESISTANCE TO 1,25-DIHYDROXYVITAMIN DC0268690
VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROLC0268690
HVDRRC0268690
HYPOCALCEMIC VITAMIN D-RESISTANT RICKETSC0268690
PDDR IIC0268690
VDDR IIC0268690
PSEUDOVITAMIN D-DEFICIENCY, TYPE IIC0268690
Exercise myoglobinuriaC0268699
Membranoproliferative glomerulonephritis type IIC0268743
NEPHROTIC SYNDROME, EARLY-ONSET, WITH DIFFUSE MESANGIAL SCLEROSISC0268747
Diffuse mesangial sclerosisC0268747
MESANGIAL SCLEROSIS, DIFFUSEC0268747
DMSC0268747
MESANGIAL SCLEROSIS, ISOLATED DIFFUSEC0268747
IDMSC0268747
Renal cystC0268800
Renal cystsC0268800
Large penisC0269011
Enlarged penisC0269011
`Chocolate` cysts of ovaryC0269102
Ovarian endometriotic cystsC0269102
Urethrovaginal fistulaeC0269133
HydrometrocolposC0269209
Vulvar cystsC0269220
NIPPLES INVERTEDC0269269
Inverted nipplesC0269269
MAMMILLAE INVERTITAEC0269269
PRURITIC URTICARIAL PAPULES AND PLAQUES OF PREGNANCYC0269680
POLYMORPHIC ERUPTION OF PREGNANCYC0269680
PUPPPC0269680
HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATALC0270210
HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATALC0270210
HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATALC0270210
Neonatal hypoparathyroidismC0270227
BEDWETTINGC0270327
ENURESIS, NOCTURNAL, 1C0270327
ENUR1C0270327
LeukoencephalopathyC0270612
Porencephalic cystC0270675
Brain stem compressionC0270680
Cerebral calcificationsC0270685
Kluver-Bucy syndromeC0270707
RUDSC0270709
RUD SYNDROMEC0270709
NEUROAXONAL DYSTROPHY, INFANTILEC0270724
SEITELBERGER DISEASEC0270724
INADC0270724
INAD1C0270724
ALEXANDER DISEASEC0270726
Choreoathetosis, paroxysmalC0270740
MOUNT-REBACK SYNDROMEC0270740
PDCC0270740
CHOREOATHETOSIS, FAMILIAL PAROXYSMALC0270740
DYT8C0270740
FPD1C0270740
PAROXYSMAL DYSTONIC CHOREOATHETOSISC0270740
DYSTONIA 8C0270740
PNKD1C0270740
PAROXYSMAL NONKINESIGENIC DYSKINESIA 1C0270740
Lower motor neuron diseaseC0270764
QuadriparesisC0270790
TetraparesisC0270790
MonoparesisC0270795
EPILEPSY, IDIOPATHIC GENERALIZEDC0270850
IDIOPATHIC GENERALIZED EPILEPSYC0270850
IGEC0270850
EIGC0270850
EPILEPSY, JUVENILE MYOCLONICC0270853
EPILEPSY, JUVENILE MYOCLONICC0270853
JANZ SYNDROMEC0270853
PETIT MAL, IMPULSIVEC0270853
JMEC0270853
EJMC0270853
MYOCLONIC EPILEPSY, NEONATAL, WITH SUPPRESSION-BURST PATTERNC0270855
EARLY MYOCLONIC ENCEPHALOPATHYC0270855
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILEC0270855
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHYC0270855
EMEC0270855
EIEEC0270855
Facial myokymiaC0270871
PERONEAL MUSCULAR ATROPHYC0270912
HMSN IC0270912
CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 1BC0270912
HMSN IBC0270912
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1BC0270912
CMT1BC0270912
HEREDITARY MOTOR AND SENSORY NEUROPATHY IBC0270912
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1BC0270912
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1BC0270912
CHARCOT-MARIE-TOOTH DISEASE, SLOW NERVE CONDUCTION TYPE, LINKED TO DUFFYC0270912
HEREDITARY MOTOR AND SENSORY NEUROPATHY IC0270912
HMSN1BC0270912
HMSN1C0270912
Axonal neuropathyC0270921
Demyelinating peripheral neuropathyC0270922
Demyelinating neuropathyC0270922
OCULOPHARYNGEAL MUSCULAR DYSTROPHYC0270952
MUSCULAR DYSTROPHY, OCULOPHARYNGEALC0270952
OPMDC0270952
MYOTONIA LEVIORC0270959
MYOPATHY, CONGENITALC0270960
MYOPATHY, CONGENITALC0270960
ITGA7,C0270960
BATTEN-TURNER CONGENITAL MYOPATHYC0270960
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2HC0270968
SARCOTUBULAR MYOPATHYC0270968
LGMD2HC0270968
`Floppy` infantsC0270971
DE LANGE SYNDROMEC0270972
BRACHMANN-DE LANGE SYNDROMEC0270972
TYPUS DEGENERATIVUS AMSTELODAMENSISC0270972
CORNELIA DE LANGE SYNDROME 1C0270972
CDLSC0270972
CDLC0270972
CDLS1C0270972
BDLSC0270972
OCULOCRANIOSOMATIC SYNDROMEC0270979
OPHTHALMOPLEGIA-PLUS SYNDROMEC0270980
Absent anterior eye chamberC0271004
Phthisis bulbiC0271007
FUNDUS FLAVIMACULATUSC0271093
FUNDUS FLAVIMACULATUSC0271093
FFMC0271093
RETINITIS PIGMENTOSA-DEAFNESS SYNDROMEC0271097
RETINITIS PIGMENTOSA-DEAFNESS SYNDROMEC0271097
RP8, FORMERLYC0271097
RP21, FORMERLYC0271097
RETINITIS PIGMENTOSA 21, FORMERLYC0271097
RETINITIS PIGMENTOSA 8, FORMERLYC0271097
Iris translucencyC0271113
PUPILLARY MEMBRANE, PERSISTENCE OFC0271130
DyscoriaC0271134
CorectopiaC0271135
ECTOPIA PUPILLAEC0271135
Aphakic glaucomaC0271154
Cortical cataractC0271160
Severe myopiaC0271183
High myopiaC0271183
Centrocecal scotomaC0271196
FLECK RETINA OF KANDORIC0271257
COMAC0271270
Oculomotor apraxiaC0271270
OCULOMOTOR APRAXIA, COGAN TYPEC0271270
SACCADE INITIATION FAILURE, CONGENITALC0271270
OCULAR MOTOR APRAXIAC0271270
Ocular motor apraxiaC0271270
SCHNYDER CRYSTALLINE CORNEAL DYSTROPHYC0271287
CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDERC0271287
SCCDC0271287
Absent corneal sensationC0271291
Loss of eyelashesC0271321
Orbital encephaloceleC0271330
Optic nerve compressionC0271344
Lateral rectus palsyC0271355
Nystagmus, horizontalC0271385
Horizontal nystagmusC0271385
Nystagmus, pendularC0271388
Nystagmus, gaze-evokedC0271390
Gaze-evoked nystagmusC0271390
Acute otitis mediaC0271429
Chronic otitis mediaC0271441
AMENORRHEA-GALACTORRHEA SYNDROMEC0271556
Growth hormone deficiencyC0271561
GROWTH HORMONE DEFICIENCYC0271561
GHDC0271561
Isolated growth hormone deficiencyC0271563
SEXUAL ATELEIOTIC DWARFISMC0271564
PITUITARY DWARFISM DUE TO ISOLATED GROWTH HORMONE DEFICIENCY, AUTOSOMAL DOMINANTC0271567
GROWTH HORMONE DEFICIENCY, ISOLATED, AUTOSOMAL DOMINANTC0271567
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IIC0271567
IGHD IIC0271567
LARON SYNDROMEC0271568
GROWTH HORMONE INSENSITIVITY SYNDROMEC0271568
GROWTH HORMONE RECEPTOR DEFICIENCYC0271568
PITUITARY DWARFISM IIC0271568
PITUITARY DWARFISM WITH SMALL SELLA TURCICAC0271574
PITUITARY DWARFISM WITH LARGE SELLA TURCICAC0271575
GROWTH HORMONE DEFICIENCY WITH HYPOGAMMAGLOBULINEMIAC0271576
FERTILE EUNUCH SYNDROMEC0271582
FERTILE EUNUCH SYNDROMEC0271582
PROLACTIN DEFICIENCY, ISOLATEDC0271586
Primary ovarian failureC0271606
HYPERGONADOTROPIC HYPOGONADISM, FEMALEC0271606
HYPERGONADOTROPIC HYPOGONADISM, FEMALEC0271606
HYPERGONADOTROPIC HYPOGONADISM, FEMALEC0271606
HYPERGONADOTROPIC HYPOGONADISM, FEMALEC0271606
Hypogonadotropic hypogonadismC0271623
Hypogonadism, hypogonadotropicC0271623
HYPOGONADOTROPIC HYPOGONADISMC0271623
HYPOGONADOTROPIC HYPOGONADISMC0271623
Hypogonadotrophic hypogonadismC0271623
Gonadotropin deficiencyC0271623
HYPOGONADISM, ISOLATED HYPOGONADOTROPICC0271623
Impaired glucose toleranceC0271650
Glucose intoleranceC0271650
Motor polyneuropathyC0271683
INSULIN RECEPTOR, DEFECT INC0271689
DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANSC0271690
INSULIN RECEPTOR, DEFECT IN, WITH INSULIN-RESISTANT DIABETES MELLITUS AND ACANTHOSIS NIGRICANSC0271690
IRAN, TYPE AC0271690
DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS, TYPE AC0271690
PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIESC0271695
RABSON-MENDENHALL SYNDROMEC0271695
MENDENHALL SYNDROMEC0271695
Fasting hypoglycemiaC0271708
Hypoglycemia, reactiveC0271710
Hypoglycemia, postprandialC0271710
HYPOGLYCEMIA, LEUCINE-INDUCEDC0271714
LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCYC0271714
LIHC0271714
ADRENOCORTICAL HYPOFUNCTION, CHRONIC PRIMARY CONGENITALC0271740
ADDISON DISEASE, CONGENITALC0271740
GLUCOCORTICOID DEFICIENCY AND ACHALASIAC0271742
TRIPLE-A SYNDROMEC0271742
ADDISONIAN-ACHALASIA SYNDROMEC0271742
ALLGROVE SYNDROMEC0271742
AAAC0271742
ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROMEC0271742
ACTH-RESISTANT ADRENAL INSUFFICIENCY, ACHALASIA AND ALACRIMAC0271742
HYPOADRENALISM WITH ACHALASIAC0271742
ALACRIMA-ACHALASIA-ADRENAL INSUFFICIENCY NEUROLOGIC DISORDERC0271742
ALACRIMA-ACHALASIA-ADDISONIANISMC0271742
THYROTROPIN DEFICIENCY, ISOLATEDC0271789
TSH DEFICIENCYC0271789
PITUITARY CRETINISMC0271789
THYROID-STIMULATING HORMONE, DEFICIENCY OFC0271789
PENDRED SYNDROMEC0271829
PENDRED SYNDROMEC0271829
PENDRED SYNDROMEC0271829
GOITER-DEAFNESS SYNDROMEC0271829
PDSC0271829
DEAFNESS WITH GOITERC0271829
Parathyroid hyperplasiaC0271844
PSEUDOHYPOPARATHYROIDISM, TYPE IIC0271870
PHP IIC0271870
ANEMIA, HYPOCHROMIC MICROCYTICC0271901
Hypochromic, microcytic anemiaC0271901
HYPOCHROMIC MICROCYTIC ANEMIAC0271901
HBA2, LEU29PROC0271901
HEMOGLOBIN AGRINIO, LEU29PROC0271901
DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IC0271933
ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IC0271933
CDA IC0271933
DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IIIC0271934
ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IIIC0271934
CDA IIIC0271934
CDAN3C0271934
ANEMIA WITH MULTINUCLEATED ERYTHROBLASTSC0271934
XEROCYTOSIS, HEREDITARYC0272051
DHSC0272051
DEHYDRATED HEREDITARY STOMATOCYTOSISC0272051
DESICCYTOSIS, HEREDITARYC0272051
RH DEFICIENCY SYNDROMEC0272052
TN SYNDROMEC0272137
GALACTOSYLTRANSFERASE DEFICIENCYC0272137
RETICULAR DYSGENESIAC0272167
RETICULAR DYSGENESISC0272167
CONGENITAL ALEUKIAC0272167
DE VAAL DISEASEC0272167
HEMATOPOIETIC HYPOPLASIA, GENERALIZEDC0272167
IMMUNOERYTHROMYELOID HYPOPLASIAC0272167
SEVERE COMBINED IMMUNODEFICIENCY WITH LEUKOPENIAC0272167
LIPOMATOSIS OF PANCREAS, CONGENITALC0272170
SHWACHMAN-DIAMOND SYNDROMEC0272170
PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTIONC0272170
SDSC0272170
SHWACHMAN-BODIAN SYNDROMEC0272170
NEUTROPENIA, CHRONIC FAMILIALC0272172
LEUKOPENIA, BENIGN FAMILIALC0272172
LAZY LEUKOCYTE SYNDROMEC0272174
EOSINOPHILIA, FAMILIALC0272192
EOSC0272192
ERYTHROPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIALC0272199
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIALC0272199
HEMOPHAGOCYTIC RETICULOSIS, FAMILIALC0272199
RETICULOSIS, FAMILIAL HISTIOCYTICC0272199
FELC0272199
FHL1C0272199
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1C0272199
HPLH1C0272199
HPLHC0272199
FHLHC0272199
FHLC0272199
HLH1C0272199
HYPERHEPARINEMIAC0272273
Congenital thrombocytopeniaC0272278
THROMBOCYTOPENIA, CYCLICC0272282
Immune thrombocytopeniaC0272286
GRAY PLATELET SYNDROMEC0272302
GPSC0272302
PLATELET ALPHA-GRANULE DEFICIENCYC0272302
PURPURA SIMPLEXC0272309
DYSPROTHROMBINEMIAC0272317
FITZGERALD FACTOR DEFICIENCYC0272340
DYSFIBRINOGENEMIA, CONGENITALC0272350
Antithrombin III deficiencyC0272375
Tonsillar hypertrophyC0272386
Multiple rib fracturesC0272567
Bacterial cholangitisC0275553
Intermittent feverC0277799
Late closure of fontanelleC0277828
Flared nostrilsC0277873
Malar rashC0277942
Coarse hairC0277959
Sensory lossC0278134
FACIAL SPASMC0278151
Hemifacial spasmsC0278152
Scanning speechC0278184
EPILEPSY, READINGC0278193
Absent corneal reflexesC0278211
GlareC0278215
No speechC0278249
Gastric adenocarcinomaC0278701
ESOPHAGEAL SQUAMOUS CELL CARCINOMAC0279626
ESCCC0279626
ADENOCARCINOMA OF ESOPHAGUSC0279628
Transitional cell carcinoma of the bladderC0279680
OVARIAN TERATOMAC0280131
DERMOID CYSTC0280131
Uterine leiomyosarcomaC0280631
Pancreatic adenocarcinomaC0281361
Dysplastic teethC0281832
Laryngeal webC0281890
Laryngeal websC0281890
Optic degenerationC0281923
Joint subluxationC0281998
CONRADI-HUNERMANN SYNDROMEC0282102
CPXDC0282102
CDPX2C0282102
CONRADI-HUNERMANN-HAPPLE SYNDROMEC0282102
HAPPLE SYNDROMEC0282102
CDPXDC0282102
CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANTC0282102
Aplasia cutis congenitaC0282160
Cutis aplasiaC0282160
ACCC0282160
SCALP DEFECT, CONGENITALC0282160
CONGENITAL DEFECT OF SKULL AND SCALPC0282160
APLASIA CUTIS CONGENITA, NONSYNDROMICC0282160
PhosphaturiaC0282201
CRONKHITE-CANADA SYNDROMEC0282207
POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGESC0282207
SNEDDON SYNDROMEC0282492
LIVEDO RETICULARIS AND CEREBROVASCULAR ACCIDENTSC0282492
LANDAU-KLEFFNER SYNDROMEC0282512
LKSC0282512
APHASIA, ACQUIRED, WITH CONVULSIVE DISORDERC0282512
APHASIA, PRIMARY PROGRESSIVEC0282513
PPAC0282513
NEONATAL ADRENOLEUKODYSTROPHYC0282525
NEONATAL ADRENOLEUKODYSTROPHYC0282525
NEONATAL ADRENOLEUKODYSTROPHYC0282525
NEONATAL ADRENOLEUKODYSTROPHYC0282525
ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORMC0282525
NALDC0282525
HYPERPIPECOLIC ACIDEMIAC0282526
HYPERPIPECOLATEMIAC0282526
INFANTILE PHYTANIC ACID STORAGE DISEASEC0282527
REFSUM DISEASE, INFANTILE FORMC0282527
REFSUM DISEASE, INFANTILE FORMC0282527
IRDC0282527
MAMMASTATINC0286172
BCL2-RELATED PROTEIN, LONG ISOFORMC0288330
BCLXLC0288330
BCL2-RELATED PROTEIN, SHORT ISOFORMC0288331
BCLXSC0288331
ANGIOSTATINC0290149
PRELAMIN AC0291592
ERG1C0295291
ERG2C0295291
CAUDAL REGRESSION SYNDROMEC0300948
Increased osmotic fragilityC0302114
Tuberous xanthomaC0302164
HexadactylyC0302246
Juvenile cataractC0302254
Juvenile cataractsC0302254
Osteolytic lesionsC0302313
XanthomaC0302314
XanthomasC0302314
XanthomataC0302314
XanthelasmaC0302314
Cervical carcinomaC0302592
Fulminant hepatitisC0302809
Premature graying of hairC0302842
Elevated MCVC0302845
EUTHYROID GOITERC0302859
Reactive airway diseaseC0302862
Testicular dysgenesisC0302885
CryptophthalmosC0311249
Central obesityC0311277
Truncal obesityC0311277
PORPHOBILINOGEN DEAMINASE DEFICIENCYC0311292
PBGD DEFICIENCYC0311292
AIPC0311292
UROPORPHYRINOGEN SYNTHASE DEFICIENCYC0311292
UPS DEFICIENCYC0311292
FUNDUS ALBIPUNCTATUSC0311338
FUNDUS ALBIPUNCTATUSC0311338
Retinal pigmentary dystrophyC0311338
GOITER, ADENOMATOUSC0311361
Difficulty walkingC0311394
Difficulty in walkingC0311394
Walking difficultiesC0311394
METABOLICC0311400
HyperbilirubinemiaC0311468
Increased bilirubinC0311468
HypersexualityC0312420
Anti dsDNA antibodyC0312612
TCRAC0314712
T-CELL ANTIGEN RECEPTOR, ALPHA SUBUNITC0314712
Fibrous nodulesC0332561
Elfin faciesC0332606
Myopathic faciesC0332615
Congenital contracturesC0332878
HemihypertrophyC0332890
Enteric cystC0333000
Flexion contracturesC0333068
NarrowC0333164
StricturesC0333187
Blind fistulasC0333339
Colloid bodiesC0333440
Granulovacuolar degenerationC0333454
Segmental demyelinationC0333457
Spongiform changesC0333462
Amyloid plaquesC0333463
AtrophyC0333641
Rimmed vacuolesC0333773
Pappenheimer bodiesC0333814
`Sea-blue` histiocytesC0333836
`Sea blue` histiocytesC0333836
Gaucher cellsC0333837
Giant plateletsC0333864
Lymphoid hyperplasiaC0333997
PachydermaC0334008
PachydermiaC0334008
OSTEOMA CUTISC0334041
POHC0334041
ECTOPIC OSSIFICATION, FAMILIALC0334041
OSSEOUS HETEROPLASIA, PROGRESSIVEC0334041
OSSEOUS HETEROPLASIA, PROGRESSIVEC0334041
Epidermal neviC0334082
CONNECTIVE TISSUE NEVUSC0334083
Hamartomatous polypsC0334092
HISTIOCYTOSIS, FAMILIAL LIPOCHROMEC0334125
Bridging fibrosisC0334160
PseudoainhumC0334166
CLOACOGENIC CARCINOMAC0334273
HEMANGIOPERICYTOMA, MALIGNANTC0334542
ADAMANTINOMA OF LONG BONESC0334556
Pilocytic astrocytomaC0334583
Sebaceous epitheliomasC0334683
Colon adenocarcinomaC0338106
Frontotemporal dementiaC0338451
DEMENTIA, FRONTOTEMPORALC0338451
FRONTOTEMPORAL DEMENTIAC0338451
MSTDC0338451
WLDC0338451
DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISMC0338451
FRONTOTEMPORAL DEMENTIA WITH PARKINSONISMC0338451
WILHELMSEN-LYNCH DISEASEC0338451
DDPACC0338451
DISINHIBITION-DEMENTIA-PARKINSONISM-AMYOTROPHY COMPLEXC0338451
FTDP17C0338451
FRONTOTEMPORAL LOBE DEMENTIAC0338451
MULTIPLE SYSTEM TAUOPATHY WITH PRESENILE DEMENTIAC0338451
FLDEMC0338451
FTDC0338451
Facial ticsC0338467
Neuroaxonal dystrophyC0338473
Migraine without auraC0338480
ALTERNATING HEMIPLEGIA OF CHILDHOODC0338488
Optic nerve hypoplasiaC0338502
OAKC0338508
KJER-TYPE OPTIC ATROPHYC0338508
OPTIC ATROPHY, KJER TYPEC0338508
OPA1C0338508
OPTIC ATROPHY 1C0338508
OPTIC ATROPHY, JUVENILEC0338508
Choroid plexus cystC0338597
Psychotic episodesC0338614
Cognitive declineC0338656
Cognitive dysfunctionC0338656
Cognitive impairmentC0338656
Impaired cognitionC0338656
BLEPHAROCHALASIS AND DOUBLE LIPC0339085
ASCHER SYNDROMEC0339085
AMYLOIDOSIS, CORNEALC0339273
CORNEAL DYSTROPHY, JUVENILE EPITHELIAL, OF MEESMANNC0339277
REIS-BUCKLERS CORNEAL DYSTROPHYC0339278
CDB1C0339278
CDRBC0339278
CORNEAL DYSTROPHY, REIS-BUCKLERS TYPEC0339278
RBCDC0339278
CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE IC0339278
CORNEAL DYSTROPHY, GEOGRAPHICC0339278
GRANULAR CORNEAL DYSTROPHY, TYPE IIIC0339278
POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHYC0339284
PPCDC0339284
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1C0339284
CORNEAL DYSTROPHY, HEREDITARY POLYMORPHOUS POSTERIORC0339284
PPCD1C0339284
Neurotrophic keratitisC0339296
Iris anomaliesC0339309
ChorioretinopathyC0339383
Choroidal foldsC0339429
Lipemia retinalisC0339477
MACULAR DYSTROPHY, VITELLIFORMC0339510
BMDC0339510
VITELLIFORM MACULAR DYSTROPHY, JUVENILE-ONSETC0339510
MACULAR DEGENERATION, POLYMORPHIC VITELLINEC0339510
BEST MACULAR DYSTROPHYC0339510
VITELLIFORM MACULAR DYSTROPHY, EARLY-ONSETC0339510
VMDC0339510
BULL`S EYE MACULAR DYSTROPHYC0339512
MCDR2C0339512
MACULAR DYSTROPHY, RETINAL, 2, BULL`S EYEC0339512
AMAUROSIS CONGENITA OF LEBER IC0339527
RETINAL BLINDNESS, CONGENITALC0339527
LCAC0339527
Leber congenital amaurosisC0339527
LCA1C0339527
CRBC0339527
LEBER CONGENITAL AMAUROSIS, TYPE IC0339527
BLUE CONE MONOCHROMATISMC0339537
BCMC0339537
COLORBLINDNESS, BLUE-MONO-CONE-MONOCHROMATIC TYPEC0339537
CBBMC0339537
GOLDMANN-FAVRE SYNDROMEC0339541
Retinal astrocytomaC0339554
Congenital hypertrophy of retinal pigment epithelium (CHRPE)C0339555
GLAUCOMA, PRIMARY OPEN ANGLEC0339573
POAGC0339573
Secondary esotropiaC0339624
Secondary exotropiaC0339636
Gaze palsy, horizontalC0339651
Marcus-Gunn pupilC0339662
NYSTAGMUS, VOLUNTARYC0339667
Congenital sensorineural deafnessC0339789
EPISTAXIS, HEREDITARYC0339819
RADIAL RAY HYPOPLASIA WITH CHOANAL ATRESIAC0339838
NASAL BONES, ABSENCE OFC0339851
NASAL CARTILAGES, AGENESIS OFC0339851
CHYLOTHORAX, CONGENITALC0340014
HYDROTHORAX, CONGENITALC0340014
IMMOTILE CILIA SYNDROME DUE TO DEFECTIVE RADIAL SPOKESC0340035
IMMOTILE CILIA SYNDROME DUE TO EXCESSIVELY LONG CILIAC0340036
YOUNG SYNDROMEC0340037
AZOOSPERMIA, OBSTRUCTIVE, AND CHRONIC SINOPULMONARY INFECTIONSC0340037
BARRY-PERKINS-YOUNG SYNDROMEC0340037
SINUSITIS-INFERTILITY SYNDROMEC0340037
CILIARY DISCOORDINATION DUE TO RANDOM CILIARY ORIENTATIONC0340038
RUTLAND CILIARY DISORIENTATION SYNDROMEC0340038
PULMONARY EDEMA OF MOUNTAINEERSC0340100
TracheobronchomalaciaC0340231
BRONCHOMALACIAC0340231
WILLIAMS-CAMPBELL SYNDROMEC0340231
HYPERTENSION, PREGNANCY-INDUCEDC0340274
Ventricular hypertrophyC0340279
Subaortic stenosisC0340375
CARDIOMYOPATHY, FAMILIAL RESTRICTIVEC0340429
VENTRICULAR TACHYCARDIA, FAMILIALC0340485
VENTRICULAR TACHYCARDIA, FAMILIAL POLYMORPHICC0340485
VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIALC0340493
VFC0340493
Idiopathic ventricular fibrillationC0340493
BUNDLE BRANCH BLOCK, FAMILIAL ISOLATED COMPLETE RIGHTC0340504
HIGH ALTITUDE PULMONARY HYPERTENSIONC0340552
HAPHC0340552
Aortic dissectionC0340643
CAPILLARY MALFORMATIONS, CONGENITAL, 1C0340803
CAPILLARY MALFORMATIONSC0340803
CMALC0340803
CMC1C0340803
SPLENOPORTAL VASCULAR ANOMALIESC0340826
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROMEC0340834
HEMANGIOMATOSIS, FAMILIAL PULMONARY CAPILLARYC0340848
Severe congenital neutropeniaC0340970
Autoimmune neutropeniaC0340971
MAY-HEGGLIN ANOMALYC0340978
MHAC0340978
DOHLE LEUKOCYTE INCLUSIONS WITH GIANT PLATELETSC0340978
MACROTHROMBOCYTOPENIA WITH LEUKOCYTE INCLUSIONSC0340978
Lip pitsC0341059
ESOPHAGITIS, EOSINOPHILICC0341106
EEC0341106
ESOPHAGEAL RING, LOWERC0341137
DIARRHEA 2, WITH MICROVILLOUS ATROPHYC0341306
MICROVILLOUS ATROPHY, CONGENITALC0341306
DAVIDSON DISEASEC0341306
MICROVILLOUS INCLUSION DISEASEC0341306
CONGENITAL FAMILIAL PROTRACTED DIARRHEA WITH ENTEROCYTE BRUSH-BORDER ABNORMALITIESC0341306
INTRACTABLE DIARRHEA OF INFANCYC0341306
DIAR2C0341306
FATTY METAMORPHOSIS OF VISCERAC0341447
WHITE LIVER DISEASEC0341447
STEATOSIS OF LIVERC0341447
VISCERAL STEATOSISC0341447
Impaired renal functionC0341697
ADULT FANCONI SYNDROMEC0341703
GlycinuriaC0341706
Bladder hemorrhageC0341750
Bifid scrotumC0341787
bifid scrotumC0341787
ADENOMYOSISC0341858
Hypothyroidism (autoimmune)C0342158
HYPOTHYROIDISM, AUTOIMMUNEC0342158
DYSPREALBUMINEMIC EUTHYROIDAL HYPERTHYROXINEMIAC0342187
THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3C0342194
THYROID HORMONE COUPLING DEFECTC0342194
HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 3C0342194
THYROID HORMONOGENESIS, GENETIC DEFECT IN, 4C0342195
IODOTYROSINE DEHALOGENASE DEFICIENCYC0342195
DEIODINASE DEFICIENCYC0342195
HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 4C0342195
THYROID HORMONOGENESIS, GENETIC DEFECT IN, 5C0342196
THYROGLOBULIN SYNTHESIS DEFECTC0342196
HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 5C0342196
Congenital hypothyroidismC0342200
ENDEMIC CRETINISMC0342200
FIDDC0342200
FETAL IODINE DEFICIENCY DISORDERC0342200
MODYC0342276
MASON-TYPE DIABETESC0342276
MATURITY-ONSET DIABETES OF THE YOUNGC0342276
DIABETES MELLITUS, TYPE II, AUTOSOMAL DOMINANTC0342277
DIABETES MELLITUS, TYPE II, AUTOSOMAL DOMINANTC0342277
AREDYLDC0342280
ACRORENAL FIELD DEFECT, ECTODERMAL DYSPLASIA, AND LIPOATROPHIC DIABETESC0342280
MUSCULAR ATROPHY, ATAXIA, RETINITIS PIGMENTOSA, AND DIABETES MELLITUSC0342281
MULTIPLE SYNOSTOSES SYNDROME 1C0342282
SYMPHALANGISM-BRACHYDACTYLY SYNDROMEC0342282
DEAFNESS-SYMPHALANGISM SYNDROME OF HERRMANNC0342282
FACIOAUDIOSYMPHALANGISM SYNDROMEC0342282
WL SYNDROMEC0342282
SYNS1C0342282
SYNOSTOSES, MULTIPLE, WITH BRACHYDACTYLYC0342282
HYPERPROINSULINEMIAC0342283
BIRD-HEADED DWARFISM WITH PROGRESSIVE ATAXIA, INSULIN-RESISTANT DIABETES, GOITER, AND PRIMARY GONADAL INSUFFICIENCYC0342284
BANGSTAD SYNDROMEC0342284
HYPOGONADISM, ALOPECIA, DIABETES MELLITUS, MENTAL RETARDATION, AND EXTRAPYRAMIDAL SYNDROMEC0342286
WOODHOUSE-SAKATI SYNDROMEC0342286
EXTRAPYRAMIDAL DISORDER, PROGRESSIVE, WITH PRIMARY HYPOGONADISM, MENTAL RETARDATION, AND ALOPECIAC0342286
THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROMEC0342287
MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESSC0342287
ROGERS SYNDROMEC0342287
THIAMINE-RESPONSIVE ANEMIA SYNDROMEC0342287
THIAMINE-RESPONSIVE MYELODYSPLASIAC0342287
TRMAC0342287
DIABETES MELLITUS, CONGENITAL INSULIN-DEPENDENT, WITH FATAL SECRETORY DIARRHEAC0342288
XPIDC0342288
X-LINKED AUTOIMMUNITY-ALLERGIC DYSREGULATION SYNDROMEC0342288
IDDM-SECRETORY DIARRHEA SYNDROMEC0342288
POLYENDOCRINOPATHY, IMMUNE DYSFUNCTION, AND DIARRHEA, X-LINKEDC0342288
XLAADC0342288
IMMUNODEFICIENCY, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, FORMERLYC0342288
DMSDC0342288
ENTEROPATHY, AUTOIMMUNE, WITH HEMOLYTIC ANEMIA AND POLYENDOCRINOPATHYC0342288
AUTOIMMUNITY-IMMUNODEFICIENCY SYNDROME, X-LINKEDC0342288
IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKEDC0342288
IPEXC0342288
DIARRHEA, POLYENDOCRINOPATHY, FATAL INFECTION SYNDROME, X-LINKEDC0342288
DIABETES-DEAFNESS SYNDROME, MATERNALLY TRANSMITTEDC0342289
DIABETES-DEAFNESS SYNDROME, MATERNALLY TRANSMITTEDC0342289
DIABETES-DEAFNESS SYNDROME, MATERNALLY TRANSMITTEDC0342289
BALLINGER-WALLACE SYNDROMEC0342289
MIDDC0342289
DIABETES AND DEAFNESS, MATERNALLY INHERITEDC0342289
DIABETES MELLITUS, TYPE II, WITH DEAFNESSC0342289
NONINSULIN-DEPENDENT DIABETES MELLITUS WITH DEAFNESSC0342289
NIDDM WITH DEAFNESSC0342289
HYPOPARATHYROIDISM, X-LINKEDC0342344
HYPXC0342344
HYPOPARATHYROIDISM, AUTOSOMAL DOMINANTC0342345
HYPOCALCEMIA, AUTOSOMAL DOMINANTC0342345
HYPOCALCEMIA, FAMILIALC0342345
HYPERCALCIURIC HYPOCALCEMIA, FAMILIALC0342345
PANHYPOPITUITARISM, X-LINKEDC0342376
PANHYPOPITUITARISMC0342376
PHPC0342376
PHPXC0342376
PITUITARY DWARFISM IV, FORMERLYC0342376
IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISMC0342384
IHHC0342384
ACTH DEFICIENCYC0342388
ADRENOCORTICOTROPIC HORMONE DEFICIENCYC0342388
HYPOTHALAMIC HAMARTOMASC0342418
Hypothalamic hamartomaC0342418
LIPOID CONGENITAL ADRENAL HYPERPLASIAC0342474
ADRENAL HYPERPLASIA IC0342474
LIPOID HYPERPLASIA, CONGENITAL, OF ADRENAL CORTEX WITH MALE PSEUDOHERMAPHRODITISMC0342474
Small adrenal glandsC0342491
Macronodular adrenal hyperplasiaC0342495
Enlarged adrenal glandsC0342499
Premature adrenarcheC0342546
PRECOCIOUS PUBERTY, MALE-LIMITEDC0342549
SEXUAL PRECOCITY, FAMILIAL, GONADOTROPIN-INDEPENDENTC0342549
TESTOTOXICOSIS, FAMILIALC0342549
PITUITARY DWARFISM IC0342573
PRIMORDIAL DWARFISMC0342573
GROWTH HORMONE DEFICIENCY, ISOLATED, AUTOSOMAL RECESSIVEC0342573
IGHD IBC0342573
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IBC0342573
AMYLOIDOSIS, VAN ALLEN TYPEC0342608
AMYLOIDOSIS IV, FORMERLYC0342608
APOA1, GLY26ARGC0342608
AMYLOID POLYNEUROPATHY-NEPHROPATHY, IOWA TYPE, GLY26ARGC0342608
AMYLOIDOSIS, OHIO TYPEC0342609
AMYLOIDOSIS VIIC0342609
AMYLOIDOSIS, LEPTOMENINGEALC0342609
AMYLOIDOSIS, MENINGOCEREBROVASCULARC0342609
SENILE SYSTEMIC AMYLOIDOSISC0342623
Neonatal hypocalcemiaC0342634
HYPERCALCIURIA, FAMILIAL IDIOPATHICC0342639
HCA2C0342639
HYPERCALCIURIA, ABSORPTIVE, 2C0342639
HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANTC0342642
ADHRC0342642
HYPOPHOSPHATEMIA, AUTOSOMAL DOMINANTC0342642
VITAMIN D-RESISTANT RICKETS, AUTOSOMAL DOMINANTC0342642
HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVEC0342643
ARHPC0342643
HYPOPHOSPHATEMIA, AUTOSOMAL RECESSIVEC0342643
ARHRC0342643
HYPERCALCIURIC RICKETSC0342645
HHRHC0342645
HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARYC0342645
VDDR II WITH ALOPECIAC0342646
RICKETS-ALOPECIA SYNDROMEC0342646
VITAMIN D-DEPENDENT RICKETS, TYPE II, WITHOUT ALOPECIAC0342647
Vascular calcificationsC0342649
HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIAC0342658
HYPOMAGNESEMIC TETANYC0342658
HOMGC0342658
HSHC0342658
HYPOMAGNESEMIA, INTESTINAL, WITH SECONDARY HYPOCALCEMIAC0342658
RUFOUS OCULOCUTANEOUS ALBINISMC0342683
RUFOUS OCULOCUTANEOUS ALBINISMC0342683
XANTHISMC0342683
ROCAC0342683
ALBINISM, OCULOCUTANEOUS, TYPE III, 1-BP DEL, FS384TERC0342683
TYRP1, 1-BP DEL, FS384TERC0342683
Transcobalamin II deficiencyC0342701
FOLIC ACID, TRANSPORT DEFECT INVOLVINGC0342705
FOLATE MALABSORPTION, HEREDITARYC0342705
[email protected] ACIDURIA, TYPE IC0342727
[email protected] ACIDURIAC0342727
MGA, TYPE IC0342727
MGA1C0342727
[email protected] DEFICIENCYC0342727
[email protected] HYDRATASE DEFICIENCYC0342727
BETA-KETOTHIOLASE DEFICIENCYC0342733
[email protected] ACIDURIAC0342737
BETA-HYDROXYISOBUTYRYL CoA DEACYLASE, DEFICIENCY OFC0342738
[email protected] HYDROLASE DEFICIENCYC0342738
METHACRYLIC ACID TOXICITYC0342738
VALINE METABOLIC DEFECTC0342738
HIBCH DEFICIENCYC0342738
METHACRYLIC ACIDURIAC0342738
TRIMETHYLAMINURIAC0342739
FISH-ODOR SYNDROMEC0342739
TMAUC0342739
GLYCOGEN STORAGE DISEASE IcC0342749
GLYCOGEN STORAGE DISEASE IcC0342749
GLYCOGEN STORAGE DISEASE IcC0342749
GLYCOGEN STORAGE DISEASE IcC0342749
GSD1CC0342749
GLYCOGEN STORAGE DISEASE IdC0342750
GSD1DC0342750
FUMARASE DEFICIENCYC0342770
Fumaric aciduriaC0342770
FUMARIC ACIDURIAC0342770
PEARSON MARROW-PANCREAS SYNDROMEC0342773
SIDEROBLASTIC ANEMIA WITH MARROW CELL VACUOLIZATION AND EXOCRINE PANCREATIC DYSFUNCTIONC0342773
ATPAF2 DEFICIENCYC0342779
ATP SYNTHASE DEFICIENCYC0342779
COMPLEX V, MITOCHONDRIAL RESPIRATORY CHAIN, ATPAF2 SUBUNIT, DEFICIENCY OFC0342779
ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OFC0342783
LIPID-STORAGE MYOPATHY SECONDARY TO SHORT-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCYC0342783
SCAD DEFICIENCYC0342783
ACADS DEFICIENCYC0342783
SCADH DEFICIENCYC0342783
ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OFC0342784
VLCAD DEFICIENCYC0342784
LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCYC0342786
MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCYC0342786
TRIFUNCTIONAL PROTEIN DEFICIENCYC0342786
LCHAD DEFICIENCYC0342786
CUDC0342788
SYSTEMIC CARNITINE DEFICIENCYC0342788
CARNITINE UPTAKE DEFECTC0342788
CARNITINE DEFICIENCY, PRIMARYC0342788
SCDC0342788
CDSPC0342788
CARNITINE TRANSPORTER, PLASMA-MEMBRANE, DEFICIENCY OFC0342788
CARNITINE DEFICIENCY, SYSTEMIC PRIMARYC0342788
CARNITINE DEFICIENCY, SYSTEMIC, DUE TO DEFECT IN RENAL REABSORPTION OF CARNITINEC0342788
CARNITINE PALMITOYLTRANSFERASE I DEFICIENCYC0342789
CPT I DEFICIENCYC0342789
CPT DEFICIENCY, HEPATIC, TYPE IC0342789
CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCYC0342789
CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCYC0342791
SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCYC0342792
SUCCINYL-CoA:ACETOACETATE TRANSFERASE DEFICIENCYC0342792
SUCCINYL-CoA:3-KETOACID CoA-TRANSFERASE DEFICIENCYC0342792
SCOT DEFICIENCYC0342792
KETOACIDOSIS DUE TO SCOT DEFICIENCYC0342792
MALONYL-CoA DECARBOXYLASE DEFICIENCYC0342793
THIOPURINE S-METHYLTRANSFERASE DEFICIENCYC0342801
TPMT DEFICIENCYC0342801
THIOPURINES, POOR METABOLISM OFC0342801
DIHYDROPYRIMIDINASE DEFICIENCYC0342803
BETA-MANNOSIDOSISC0342849
BETA-MANNOSIDASE DEFICIENCYC0342849
MANNOSIDOSIS, BETA A, LYSOSOMALC0342849
LYSOSOMAL BETA-MANNOSIDASE DEFICIENCYC0342849
SIALURIAC0342853
SIALURIA, FRENCH TYPEC0342853
D-BIFUNCTIONAL PROTEIN DEFICIENCYC0342870
PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCYC0342870
[email protected] DEHYDROGENASE IV DEFICIENCYC0342870
PBFE DEFICIENCYC0342870
DBP DEFICIENCYC0342870
GLUTARYL-CoA OXIDASE DEFICIENCYC0342873
GA IIIC0342873
GLUTARIC ACIDURIA IIIC0342873
HYPERALPHALIPOPROTEINEMIAC0342883
FISH-EYE DISEASEC0342895
FEDC0342895
ALPHA-LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCYC0342895
ALPHA-LCAT DEFICIENCYC0342895
DYSLIPOPROTEINEMIC CORNEAL DYSTROPHYC0342895
LCATA DEFICIENCYC0342895
SITOSTEROLEMIAC0342907
PHYTOSTEROLEMIAC0342907
STSLC0342907
KERATOSIS FOLLICULARIS SPINULOSA DECALVANSC0343057
KERATOSIS FOLLICULARIS SPINULOSA DECALVANS CUM OPHIASIC0343057
KFSDC0343057
COLD URTICARIA, FAMILIALC0343068
FCASC0343068
FAMILIAL COLD AUTOINFLAMMATORY SYNDROMEC0343068
FAMILIAL COLD AUTOINFLAMMATORY SYNDROMEC0343068
FCUC0343068
COLD-INDUCED AUTOINFLAMMATORY SYNDROME, FAMILIALC0343068
COLD HYPERSENSITIVITYC0343068
Woolly hairC0343073
MILIA, MULTIPLE ERUPTIVEC0343079
POIKILODERMA, HEREDITARY SCLEROSINGC0343094
FLYNN-AIRD SYNDROMEC0343108
NAEGELI SYNDROMEC0343111
NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROMEC0343111
NFJSC0343111
NFJ SYNDROMEC0343111
Knee effusionC0343166
Hypotonia (neonatal)C0343239
Hypotonia, neonatalC0343239
Neonatal hypotoniaC0343239
Candidal diaper rashC0343874
Blurred visionC0344232
Irregular nystagmusC0344240
Lenticonus posteriorC0344263
Vitreoretinal degenerationC0344290
vitreoretinal degenerationC0344290
Choroidal sclerosisC0344297
CHOROIDAL SCLEROSISC0344297
CHOROIDAL SCLEROSISC0344297
CHOROIDAL DYSTROPHY, CENTRAL AREOLARC0344297
CACDC0344297
White forelockC0344312
DepressionC0344315
Nocturnal dyspneaC0344357
Incomplete bladder emptyingC0344365
Hypoplasia of corpus callosumC0344482
Hypoplasia of the corpus callosumC0344482
SPINAL INTRADURAL ARACHNOID CYSTSC0344485
Absent sacrumC0344490
SACRAL AGENESISC0344490
ALACRIMAC0344505
AlacrimaC0344505
MEGALOCORNEAC0344530
MEGALOCORNEAC0344530
MegalocorneaC0344530
KeratoglobusC0344530
MGC1C0344530
MGCNC0344530
Hypoplastic irisC0344539
Iris hypoplasiaC0344539
Hypoplasia of the irisC0344539
PolycoriaC0344544
PETERS ANOMALYC0344559
PETERS ANOMALYC0344559
Peters anomalyC0344559
Peter`s anomalyC0344559
PATENT DUCTUS VENOSUSC0344688
PORTOSYSTEMIC VENOUS SHUNT, CONGENITALC0344688
PSVSC0344688
PDVC0344688
Atrioventricular septal defect, partialC0344735
ATRIOVENTRICULAR SEPTAL DEFECTC0344783
ATRIOVENTRICULAR SEPTAL DEFECTC0344783
ATRIOVENTRICULAR SEPTAL DEFECTC0344783
atrioventricular septal defectC0344783
AVSDC0344783
Right ventricular dilatationC0344893
Perimembranous ventricular septal defectC0344925
PULMONARY ATRESIA WITH INTACT VENTRICULAR SEPTUMC0344975
PULMONARY ATRESIA WITH VENTRICULAR SEPTAL DEFECTC0344976
Peripheral pulmonary artery stenosisC0345030
ANEURYSM, THORACIC AORTICC0345050
ANNULOAORTIC ECTASIAC0345050
AORTIC DISSECTION, FAMILIALC0345050
AAT1C0345050
AORTIC ANEURYSM, FAMILIAL THORACICC0345050
AORTIC ANEURYSM, FAMILIAL THORACIC 1C0345050
FAA1C0345050
Pseudocoarctation of the aortaC0345088
Cloacal exstrophyC0345217
Hirschsprung disease, long-segmentC0345238
AGANGLIONOSIS, TOTAL INTESTINALC0345240
INTESTINAL MALROTATION, FAMILIALC0345255
Multicystic dysplastic kidneyC0345335
Multicystic kidneyC0345335
Multicystic kidneysC0345335
Preaxial polydactylyC0345354
Polydactyly, preaxialC0345354
Hypoplasia of the lower limbsC0345371
GORLIN-CHAUDHRY-MOSS SYNDROMEC0345382
CRANIOFACIAL DYSOSTOSIS, HYPERTRICHOSIS, HYPOPLASIA OF LABIA MAJORA,C0345382
DENTAL AND EYE ANOMALIES, PATENT DUCTUS ARTERIOSUS, AND NORMAL INTELLIGENCEC0345382
GCM SYNDROMEC0345382
Absent coccyxC0345396
Supernumerary ribsC0345397
Extra ribsC0345397
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3C0345407
OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSISC0345407
CARBONIC ANHYDRASE II DEFICIENCYC0345407
MARBLE BRAIN DISEASEC0345407
GUIBAUD-VAINSEL SYNDROMEC0345407
OPTB3C0345407
CUTIS MARMORATA TELANGIECTATICA CONGENITAC0345419
CMTCC0345419
COMEDONES, FAMILIAL DYSKERATOTICC0345424
JUVENILE POLYPOSIS SYNDROMEC0345893
JPSC0345893
JIPC0345893
JUVENILE INTESTINAL POLYPOSISC0345893
POLYPOSIS, JUVENILE INTESTINALC0345893
PJIC0345893
POLYPOSIS, FAMILIAL, OF ENTIRE GASTROINTESTINAL TRACTC0345893
HEPATOCELLULAR CARCINOMAC0345904
HEPATOMAC0345904
LIVER CELL CARCINOMAC0345904
LIVER CANCERC0345904
HCCC0345904
CANCER, HEPATOCELLULARC0345904
LCCC0345904
MESOTHELIOMA, MALIGNANTC0345967
MiliaC0345996
BIRT-HOGG-DUBE SYNDROMEC0346010
BHDC0346010
FIBROFOLLICULOMAS WITH TRICHODISCOMAS AND ACROCHORDONSC0346010
FibrofolliculomasC0346011
Cutaneous leiomyosarcomaC0346067
BLUE RUBBER BLEB NEVUSC0346072
BEAN SYNDROMEC0346072
ANGIOMA, TUFTEDC0346073
TUFTED ANGIOMAC0346073
BAZEX SYNDROMEC0346104
BAZEX-DUPRE-CHRISTOL SYNDROMEC0346104
BDCSC0346104
FOLLICULAR ATROPHODERMA AND BASAL CELL CARCINOMASC0346104
BZXC0346104
BREAST CANCER, FAMILIALC0346153
OVARIAN GERM CELL CANCERC0346180
Ureteral polypsC0346269
Optic gliomaC0346326
Optic gliomasC0346326
Choroidal hemangiomataC0346390
Pancreatic cancerC0346647
PANCREATIC CANCERC0346647
Scalp lipomaC0347425
Lactic acidemiaC0347959
Spinal arteriovenous malformationC0348023
Steal syndromeC0349422
WERNICKE-KORSAKOFF SYNDROMEC0349464
TRANSKETOLASE DEFECTC0349464
ALCOHOL-INDUCED ENCEPHALOPATHYC0349464
PhotosensitivityC0349506
PHOTOSENSITIVITYC0349506
Sun sensitivityC0349506
Skin photosensitivityC0349506
PPRC0349506
PHOTOPAROXYSMAL RESPONSEC0349506
PHOTOCONVULSIVE REACTIONC0349506
CARCINOID TUMORS, INTESTINALC0349535
Short statureC0349588
short statureC0349588
PRE-B-CELL ACUTE LYMPHOBLASTIC LEUKEMIAC0349636
PRE-B-CELL ACUTE LYMPHOBLASTIC LEUKEMIAC0349636
PRE-B-CELL ACUTE LYMPHOBLASTIC LEUKEMIAC0349636
JUVENILE MYELOMONOCYTIC LEUKEMIAC0349639
LEUKEMIA, JUVENILE MYELOMONOCYTICC0349639
LEUKEMIA, JUVENILE MYELOMONOCYTICC0349639
JMMLC0349639
JAEKEN SYNDROMEC0349653
CDG1AC0349653
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IaC0349653
CDG IaC0349653
CDGIaC0349653
PHOSPHOMANNOMUTASE 2 DEFICIENCYC0349653
CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE Ia, FORMERLYC0349653
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaC0349654
CDGIIaC0349654
CDG IIaC0349654
CDG2AC0349654
CDGS2, FORMERLYC0349654
CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE II, FORMERLYC0349654
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE I/IIxC0349655
CDG-xC0349655
Sertoli cell testicular tumorsC0349671
Corneal scarringC0349702
AspirationC0349707
Arrhythmogenic right ventricular dysplasiaC0349788
vCJDC0376329
CREUTZFELDT-JAKOB DISEASE, VARIANTC0376329
MEROSINC0376333
PROSTATE CANCERC0376358
Prostate cancerC0376358
GRONBLAD-STRANDBERG SYNDROMEC0376359
Gingival overgrowthC0376480
BCL2C0376515
ONCOGENE B-CELL LEUKEMIA 2C0376515
B-CELL CLL/LYMPHOMA 2C0376515
HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROMEC0376524
LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROMEC0376524
BOFSC0376524
BRANCHIOOCULOFACIAL SYNDROMEC0376524
BOF SYNDROMEC0376524
BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATE NASOLACRIMAL DUCT, AND PREMATURE AGINGC0376524
ECTC0376532
BENIGN ROLANDIC EPILEPSYC0376532
TEMPORAL-CENTRAL FOCAL EPILEPSYC0376532
CENTRALOPATHIC EPILEPSYC0376532
CENTROTEMPORAL EPILEPSYC0376532
BENIGN EPILEPSY OF CHILDHOOD WITH CENTROTEMPORAL SPIKESC0376532
BECTSC0376532
BRCA1C0376571
BREAST CANCER 1 GENEC0376571
BREAST CANCER 1, EARLY-ONSETC0376571
P-GLYCOPROTEIN 1C0376622
MULTIDRUG RESISTANCE 1C0376622
PGY1C0376622
ABCB1C0376622
GP170C0376622
MDR1C0376622
ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 1C0376622
DOXORUBICIN RESISTANCEC0376622
RHOMBOTIN 2C0380093
LMO2C0380093
T-CELL TRANSLOCATION GENE 2C0380093
LIM DOMAIN ONLY 2C0380093
RBTN2C0380093
RHOMBOTIN-LIKE 1C0380093
RBTNL1C0380093
RHOM2C0380093
TTG2C0380093
BLUE CONE PIGMENTC0381986
BCPC0381986
NOCICEPTINC0382336
p14(ARF)C0384826
POLYCYSTIN 2C0390154
TIETZ SYNDROMEC0391816
TIETZ ALBINISM-DEAFNESS SYNDROMEC0391816
ALBINISM-DEAFNESS OF TIETZC0391816
HYPOPIGMENTATION/DEAFNESS OF TIETZC0391816
Lhermitte-Duclos diseaseC0391826
LHERMITTE-DUCLOS DISEASEC0391826
DYSPLASTIC GANGLIOCYTOMA OF THE CEREBELLUMC0391826
LDDC0391826
P2 PHENOTYPEC0391848
Corneal erosionsC0392163
Schizophrenia, atypicalC0392322
Decreased plateletsC0392386
ROBERTS SYNDROMEC0392475
RBSC0392475
SC PHOCOMELIA SYNDROMEC0392475
SC PSEUDOTHALIDOMIDE SYNDROMEC0392475
LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATEC0392475
Epiphyseal dysplasiaC0392476
HEMOCHROMATOSIS, HEREDITARYC0392514
HEMOCHROMATOSIS, HEREDITARYC0392514
NephrolithiasisC0392525
Cauda equina syndromeC0392548
Infantile hemiplegiaC0392550
Abnormal involuntary movementsC0392702
AtopyC0392707
ERDHEIM CYSTIC MEDIAL NECROSIS OF AORTAC0392775
DERMATOFIBROSARCOMA PROTUBERANSC0392784
DERMATOFIBROSARCOMA PROTUBERANSC0392784
DFSPC0392784
PDGFB/COL1A1 FUSIONC0392784
Chronic lymphocytic meningitisC0393441
CEREBELLAR ATAXIA, EARLY-ONSET, WITH RETAINED TENDON REFLEXESC0393520
EOCAC0393520
Progressive cerebellar ataxiaC0393525
Cerebellar ataxia, progressiveC0393525
SPINAL MUSCULAR ATROPHY, TYPE IIC0393538
SPINAL MUSCULAR ATROPHY, TYPE IIC0393538
SPINAL MUSCULAR ATROPHY, TYPE IIC0393538
SMA2C0393538
MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORMC0393538
MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPEC0393538
SMA IIC0393538
BULBAR PALSY, PROGRESSIVE, OF CHILDHOODC0393540
FAZIO-LONDE DISEASEC0393540
TROYER SYNDROMEC0393559
SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVEC0393559
SPG20C0393559
SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, TROYER TYPEC0393559
SPASTIC PARAPARESIS, CHILDHOOD-ONSET, WITH DISTAL MUSCLE WASTINGC0393559
CHOREOACANTHOCYTOSISC0393576
CHOREOACANTHOCYTOSISC0393576
NEUROACANTHOCYTOSISC0393576
ACANTHOCYTOSIS WITH NEUROLOGIC DISORDERC0393576
LEVINE-CRITCHLEY SYNDROMEC0393576
CHACC0393576
CHOREA-ACANTHOCYTOSISC0393576
Pallidal degenerationC0393577
CHOREA, BENIGN HEREDITARYC0393584
BCHC0393584
HEREDITARY PROGRESSIVE CHOREA WITHOUT DEMENTIAC0393584
BHCC0393584
Dystonia, paroxysmalC0393588
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1C0393590
FERROCALCINOSIS, CEREBROVASCULARC0393590
BSPDCC0393590
STRIOPALLIDODENTATE CALCINOSIS, BILATERALC0393590
FAHR DISEASE, FAMILIAL, FORMERLYC0393590
STRIOPALLIDODENTATE CALCINOSIS, AUTOSOMAL DOMINANT, ADULT-ONSETC0393590
CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC, IDIOPATHIC, ADULT-ONSETC0393590
IBGC1C0393590
AICARDI-GOUTIERES SYNDROME 2C0393591
AGS2C0393591
DystoniaC0393593
EPILEPSY WITH GRAND MAL SEIZURES ON AWAKENINGC0393697
EPILEPSY WITH GRAND MAL SEIZURES ON AWAKENINGC0393697
EGMAC0393697
EPILEPSY, PHOTOGENICC0393720
HEADACHE ASSOCIATED WITH SEXUAL ACTIVITYC0393754
HSAC0393754
BSHC0393754
BENIGN SEXUAL HEADACHEC0393754
DELAYED SLEEP PHASE SYNDROMEC0393770
DSPSC0393770
ANOSMIA, CONGENITALC0393778
ANOSMIA, ISOLATED CONGENITALC0393778
ANICC0393778
MORNING GLORY DISCC0393782
HEREDITARY MOTOR AND SENSORY NEUROPATHY VIC0393807
HEREDITARY MOTOR AND SENSORY NEUROPATHY VIC0393807
HMSN VIC0393807
PERIPHERAL NEUROPATHY AND OPTIC ATROPHYC0393807
CMT6C0393807
HMSN6C0393807
CHARCOT-MARIE-TOOTH DISEASE, TYPE 6C0393807
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED, 1C0393808
HEREDITARY MOTOR AND SENSORY NEUROPATHY, X-LINKEDC0393808
CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED, 1C0393808
CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKEDC0393808
CMTXC0393808
CMT2, FORMERLYC0393808
CMTX1C0393808
HMSN, X-LINKEDC0393808
TOMACULOUS NEUROPATHYC0393814
HNPPC0393814
NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIESC0393814
NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIESC0393814
POLYNEUROPATHY, FAMILIAL RECURRENTC0393814
NEUROPATHY, CONGENITAL HYPOMYELINATINGC0393818
CONGENITAL HYPOMYELINATING NEUROPATHYC0393818
CHNC0393818
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4EC0393818
CMT4EC0393818
HYPOMYELINATION, SEVERE CONGENITALC0393818
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4EC0393818
CIDPC0393819
POLYNEUROPATHY, INFLAMMATORY DEMYELINATING, CHRONICC0393819
MYASTHENIA, FAMILIAL INFANTILEC0393929
FIMC0393929
CONGENITAL MYASTHENIC SYNDROME TYPE IaC0393929
CMS-EAC0393929
CMS IaC0393929
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEAC0393929
FIMG2, FORMERLYC0393929
CMS1AC0393929
MYASTHENIA GRAVIS, FAMILIAL INFANTILE, 2, FORMERLYC0393929
MYASTHENIC SYNDROME, PRESYNAPTIC, CONGENITAL, ASSOCIATED WITH EPISODIC APNEAC0393929
ATAXIC CEREBRAL PALSYC0394005
ACPC0394005
CEREBRAL PALSY, ATAXIC, AUTOSOMAL RECESSIVEC0394005
DYSEQUILIBRIUM SYNDROMEC0394006
DESC0394006
CEREBELLAR DISORDER, NONPROGRESSIVE, WITH MENTAL RETARDATIONC0394006
CEREBELLAR HYPOPLASIA, VLDLR-ASSOCIATEDC0394006
VLDLRCHC0394006
External auditory canal stenosisC0395837
CHOLESTEATOMA, CONGENITALC0395886
Mondini defectC0395941
LARYNGEAL ABDUCTOR PARALYSISC0396059
LARYNGEAL ABDUCTOR PARALYSISC0396059
GERHARDT SYNDROMEC0396059
PLOTT SYNDROMEC0396059
VOCAL CORD DYSFUNCTION, FAMILIALC0396059
VOCAL CORD DYSFUNCTION, FAMILIALC0396059
LABDC0396059
LARYNGEAL ADDUCTOR PARALYSISC0396060
LAPC0396060
VOCAL CORD DYSFUNCTION, ADDUCTOR TYPEC0396060
Bowing of the vocal cordsC0396064
Obliteration of frontal sinusesC0396261
Distal intestinal obstruction syndromeC0398349
HypoventilationC0398353
ADENYLATE KINASE DEFICIENCYC0398564
MCLEOD SYNDROMEC0398568
SPECIFIC GRANULE DEFICIENCYC0398593
SGDC0398593
MYELOPEROXIDASE DEFICIENCYC0398595
MPO DEFICIENCYC0398595
THROMBOPHILIAC0398623
Protein C deficiencyC0398625
THROMBOXANE SYNTHETASE DEFICIENCYC0398635
Amegakaryocytic thrombocytopeniaC0398639
EPSTEIN SYNDROMEC0398641
EPSTEIN SYNDROMEC0398641
EPSTEIN SYNDROMEC0398641
MACROTHROMBOCYTOPATHY, NEPHRITIS, AND DEAFNESSC0398641
POSTTRANSFUSION PURPURAC0398648
POSTTRANSFUSION PURPURAC0398648
POSTTRANSFUSION PURPURAC0398648
PTPC0398648
HYPER-IgM SYNDROMEC0398689
HYPER-IgM IMMUNODEFICIENCY, X-LINKEDC0398689
HIGM1C0398689
HYPER-IgM SYNDROME 1C0398689
XHIMC0398689
IHISC0398689
HIGMC0398689
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1C0398689
HIDSC0398691
PERIODIC FEVER, DUTCH TYPEC0398691
HYPERIMMUNOGLOBULINEMIA D AND PERIODIC FEVER SYNDROMEC0398691
HYPER-IgD SYNDROMEC0398691
SECRETORY COMPONENT DEFICIENCYC0398709
IgA DEFICIENCY, SECRETORYC0398709
TUFTSIN DEFICIENCYC0398741
NEUTROPHIL LACTOFERRIN DEFICIENCYC0398744
LACTOFERRIN-DEFICIENT NEUTROPHILSC0398744
GLUTATHIONE SYNTHETASE DEFICIENCYC0398746
[email protected]C0398746
PYROGLUTAMIC ACIDURIAC0398746
FACTOR D DEFICIENCYC0398764
COMPLEMENT FACTOR H DEFICIENCYC0398777
FACTOR H DEFICIENCYC0398777
CFH DEFICIENCYC0398777
CARBOXYPEPTIDASE N DEFICIENCYC0398782
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROMEC0398788
CENTROMERIC INSTABILITY, IMMUNODEFICIENCY SYNDROMEC0398788
IMMUNODEFICIENCY SYNDROME, VARIABLEC0398788
ICF SYNDROMEC0398788
IMMUNE DEFICIENCY, VARIABLE, WITH CENTROMERIC INSTABILITY OF CHROMOSOMES 1, 9, AND 16C0398788
CIIDC0398788
NIJMEGEN BREAKAGE SYNDROMEC0398791
BBSC0398791
SEEMANOVA SYNDROME IIC0398791
NBSC0398791
AT-V1C0398791
BERLIN BREAKAGE SYNDROMEC0398791
MICROCEPHALY WITH NORMAL INTELLIGENCE, IMMUNODEFICIENCY, AND LYMPHORETICULAR MALIGNANCIESC0398791
ATAXIA-TELANGIECTASIA VARIANT V1C0398791
IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITYC0398791
NONSYNDROMAL MICROCEPHALY, AUTOSOMAL RECESSIVE, WITH NORMAL INTELLIGENCEC0398791
AnodontiaC0399352
Talon cuspsC0399357
AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPEC0399367
Amelogenesis imperfecta, hypoplasticC0399367
MICRODONTIA, GENERALIZEDC0399367
DENTINOGENESIS IMPERFECTA, SHIELDS TYPE IIIC0399378
DENTINOGENESIS IMPERFECTA, SHIELDS TYPE IIIC0399378
BRANDYWINE TYPE DENTINOGENESIS IMPERFECTAC0399378
DGI-IIIC0399378
DENTIN DYSPLASIA, TYPE IC0399379
RADICULAR DENTIN DYSPLASIAC0399379
ROOTLESS TEETHC0399379
DENTIN DYSPLASIA, TYPE IIC0399380
ANOMALOUS DYSPLASIA OF DENTINC0399380
CORONAL DENTIN DYSPLASIAC0399380
DENTIN DYSPLASIA, SHIELDS TYPE IIC0399380
PULPAL DYSPLASIAC0399380
DTDP2C0399380
FIBROMATOSIS, GINGIVAL, HEREDITARYC0399440
HGFC0399440
FIBROMATOSIS, GINGIVAL, 1C0399440
GGF1C0399440
GINGF1C0399440
GINGFC0399440
Buccal mucosa leukoplakiaC0399470
Mandibular condyle aplasiaC0399570
Mandibular condyle hypoplasiaC0399572
COMMISSURAL LIP PITSC0399605
Commissural lip pitsC0399605
HYPERBILIRUBINEMIA, CONJUGATED, TYPE IIIC0400964
BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCYC0400972
CHOLESTATIC JAUNDICE AND RENAL TUBULAR INSUFFICIENCYC0400972
BILE ACID, SYNTHETIC DEFECT OFC0400973
ICHTHYOSIS CONGENITA WITH BILIARY ATRESIAC0400974
Chronic constipationC0401149
Diarrhea, chronicC0401151
Chronic diarrheaC0401151
FINNISH CONGENITAL NEPHROSISC0403399
CNFC0403399
NEPHROSIS, CONGENITALC0403399
NPHS1C0403399
NEPHROTIC SYNDROME, TYPE 1C0403399
NEPHROSIS 1, CONGENITAL, FINNISH TYPEC0403399
MESANGIAL SCLEROSIS, FAMILIALC0403400
THIN MEMBRANE NEPHROPATHYC0403440
THIN-BASEMENT-MEMBRANE NEPHROPATHYC0403440
TMNC0403440
RENAL FAILURE, PROGRESSIVE, WITH HYPERTENSIONC0403443
NEPHROPATHY, FAMILIALC0403443
AORFC0403443
RENAL FAILURE, ADULT-ONSETC0403443
RFH1C0403443
NEPHRITIS, FAMILIAL, WITHOUT DEAFNESS OR OCULAR DEFECTC0403443
ALPORT SYNDROME-LIKE HEREDITARY NEPHRITISC0403444
ASLHNC0403444
ASLNC0403444
FECHTNER SYNDROMEC0403445
FECHTNER SYNDROMEC0403445
MACROTHROMBOCYTOPATHY, NEPHRITIS, DEAFNESS, AND LEUKOCYTE INCLUSIONSC0403445
ALPORT SYNDROME WITH LEUKOCYTE INCLUSIONS AND MACROTHROMBOCYTOPENIAC0403445
FTNSC0403445
GOODPASTURE SYNDROMEC0403529
NAIL-PATELLA-LIKE RENAL DISEASEC0403548
GLOMERULAR BASEMENT MEMBRANE DISEASE, NAIL-PATELLA SYNDROME TYPEC0403548
ENAMEL-RENAL SYNDROMEC0403549
AMELOGENESIS IMPERFECTA AND NEPHROCALCINOSISC0403549
ERSC0403549
AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE, IGC0403549
AI1GC0403549
PRUNE BELLY SYNDROME WITH PULMONIC STENOSIS, MENTAL RETARDATION, AND DEAFNESSC0403551
PULMONIC STENOSIS AND CONGENITAL NEPHROSISC0403552
SENIOR-LOKEN SYNDROME 1C0403553
SENIOR-LOKEN SYNDROME 1C0403553
RENAL DYSPLASIA AND RETINAL APLASIAC0403553
SENIOR-LOKEN SYNDROMEC0403553
LOKEN-SENIOR SYNDROMEC0403553
JUVENILE NEPHRONOPHTHISIS WITH LEBER AMAUROSISC0403553
RENAL-RETINAL SYNDROMEC0403553
SLSN1C0403553
RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESSC0403554
RENAL TUBULAR ACIDOSIS WITH PROGRESSIVE NERVE DEAFNESSC0403554
RTA WITH PROGRESSIVE NERVE DEAFNESSC0403554
RENAL TUBULAR ACIDOSIS, AUTOSOMAL RECESSIVE, WITH PROGRESSIVE NERVE DEAFNESSC0403554
OCHOA SYNDROMEC0403555
UROFACIAL SYNDROMEC0403555
FACIAL PALSY, PARTIAL, WITH URINARY ABNORMALITIESC0403555
HYDRONEPHROSIS WITH PECULIAR FACIAL EXPRESSIONC0403555
UFSC0403555
INVERTED SMILE AND OCCULT NEUROPATHIC BLADDERC0403555
LOBULAR GLOMERULOPATHY, FAMILIALC0403556
GLOMERULOPATHY WITH GIANT FIBRILLAR DEPOSITSC0403557
URINARY BLADDER, ATONY OFC0403645
Retrograde ejaculationC0403673
Uric acid urolithiasisC0403719
URIC ACID UROLITHIASISC0403719
URIC ACID UROLITHIASISC0403719
NEPHROLITHIASIS, URIC ACIDC0403719
UANC0403719
URIC ACID NEPHROLITHIASIS, SUSCEPTIBILITY TOC0403719
NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILUREC0403720
XRNC0403720
NEPHROLITHIASIS 1C0403720
NEPHROLITHIASIS, X-LINKED RECESSIVE, TYPE 1C0403720
NPHL1C0403720
OLIGOSYNAPTIC INFERTILITYC0403810
OLIGOCHIASMIC INFERTILITYC0403810
MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOAC0403812
INFERTILITY ASSOCIATED WITH MULTI-TAILED SPERMATOZOA AND EXCESSIVE DNAC0403812
VAS DEFERENS, CONGENITAL BILATERAL APLASIA OFC0403814
CBAVDC0403814
CAVDC0403814
AsthenospermiaC0403823
GLOBOZOOSPERMIAC0403825
ROUND-HEADED SPERMATOZOAC0403825
SPERMATOZOA, ROUND-HEADEDC0403825
ACROSOME MALFORMATION OF SPERMATOZOAC0403825
ACTINIC PRURIGOC0406217
TWENTY-NAIL DYSTROPHYC0406443
Diffuse alopeciaC0406458
LOOSE ANAGEN HAIR SYNDROMEC0406468
TELANGIECTASIA, HEREDITARY BENIGNC0406502
HBTC0406502
POIKILODERMA, CONGENITAL, WITH BULLAE, WEARY TYPEC0406556
POIKILODERMA, HEREDITARY ACROKERATOTICC0406556
KINDLER SYNDROMEC0406557
BULLOUS ACROKERATOTIC POIKILODERMA OF KINDLER AND WEARYC0406557
PSEUDOATROPHODERMA COLLIC0406561
Follicular atrophodermaC0406563
FIBROMATOSIS, JUVENILE HYALINEC0406578
PURETIC SYNDROMEC0406578
JHFC0406578
HYALINOSIS, SYSTEMIC JUVENILEC0406578
GIANT CELL FIBROBLASTOMAC0406579
HYALINOSIS, INFANTILE SYSTEMICC0406582
INFANTILE SYSTEMIC HYALINOSISC0406582
ISHC0406582
ACROGERIA, GOTTRON TYPEC0406584
METAGERIAC0406584
ACROMETAGERIAC0406584
TIGHT SKIN CONTRACTURE SYNDROME, LETHALC0406585
RESTRICTIVE DERMOPATHY, LETHALC0406585
RESTRICTIVE DERMOPATHY, LETHALC0406585
FETAL HYPOKINESIA SEQUENCE DUE TO RESTRICTIVE DERMOPATHYC0406585
HYPERKERATOSIS-CONTRACTURE SYNDROMEC0406585
WIEDEMANN-RAUTENSTRAUCH SYNDROMEC0406586
PROGEROID SYNDROME, NEONATALC0406586
WRINKLY SKIN SYNDROMEC0406587
WSSC0406587
ENCEPHALOCRANIOCUTANEOUS LIPOMATOSISC0406612
ECCLC0406612
ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL RECESSIVEC0406702
ECTODERMAL DYSPLASIA, ANHIDROTICC0406702
RUDIGER SYNDROMEC0406704
ECTODERMAL DYSPLASIA, ABSENT DERMATOGLYPHIC PATTERN, CHANGES IN NAILS, AND SIMIAN CREASEC0406707
BASAN SYNDROMEC0406707
ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATEC0406709
AEC SYNDROMEC0406709
HAY-WELLS SYNDROMEC0406709
WOOLLY HAIR, HYPOTRICHOSIS, EVERTED LOWER LIP, AND OUTSTANDING EARSC0406718
SALAMON SYNDROMEC0406718
GAPO SYNDROMEC0406723
GROWTH RETARDATION, ALOPECIA, PSEUDOANODONTIA, AND OPTIC ATROPHYC0406723
ODONTOTRICHOMELIC SYNDROMEC0406723
TETRAMELIC DEFICIENCIES, ECTODERMAL DYSPLASIA, DEFORMED EARS, AND OTHER ABNORMALITIESC0406723
OROFACIODIGITAL SYNDROME IIIC0406726
SUGARMAN SYNDROMEC0406726
OFD SYNDROME IIIC0406726
OFD3C0406726
ORAL-FACIAL-DIGITAL SYNDROME, TYPE IIIC0406726
OROFACIODIGITAL SYNDROME IVC0406727
BARAITSER-BURN SYNDROMEC0406727
ORAL-FACIAL-DIGITAL SYNDROME, TYPE IVC0406727
OFD SYNDROME, BARAITSER-BURN TYPEC0406727
OFD4C0406727
OFD SYNDROME IVC0406727
OFD SYNDROME WITH TIBIAL DEFECTSC0406727
CHANDSC0406733
CURLY HAIR-ANKYLOBLEPHARON-NAIL DYSPLASIA SYNDROMEC0406733
TNSC0406735
WITKOP SYNDROMEC0406735
TOOTH-AND-NAIL SYNDROMEC0406735
DYSPLASIA OF NAILS WITH HYPODONTIAC0406735
KOHLSCHUTTER-TONZ SYNDROMEC0406740
KOHLSCHUTTER SYNDROMEC0406740
EPILEPSY, DEMENTIA, AND AMELOGENESIS IMPERFECTAC0406740
EPILEPSY AND YELLOW TEETHC0406740
KERATOLYTIC WINTER ERYTHEMAC0406756
KWEC0406756
OUDTSHOORN SKINC0406756
HURIEZ SYNDROMEC0406767
SCLEROTYLOSISC0406767
SCLEROATROPHIC AND KERATOTIC DERMATOSIS OF LIMBSC0406767
TYSC0406767
HRZC0406767
RETICULATE ACROPIGMENTATION OF DOHIC0406775
DYSCHROMATOSIS SYMMETRICA HEREDITARIAC0406775
DSH1C0406775
DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1C0406775
DSHC0406775
SYMMETRIC DYSCHROMATOSIS OF THE EXTREMITIESC0406775
CANTU SYNDROMEC0406777
DERMATOPATHIA PIGMENTOSA RETICULARISC0406778
DPRC0406778
CARNEY SYNDROMEC0406810
CARC0406810
CARNEY COMPLEXC0406810
CARNEY MYXOMA-ENDOCRINE COMPLEXC0406810
MYXOMA, SPOTTY PIGMENTATION, AND ENDOCRINE OVERACTIVITYC0406810
NAME SYNDROMEC0406810
CNC1C0406810
CARNEY COMPLEX, TYPE 1C0406810
LAMB SYNDROMEC0406810
RETICULATE ACROPIGMENTATION OF KITAMURAC0406811
KITAMURA RETICULATE ACROPIGMENTATIONC0406811
DDDC0406811
DOWLING-DEGOS-KITAMURA DISEASEC0406811
RETICULAR PIGMENT ANOMALY OF FLEXURESC0406811
DOWLING-DEGOS DISEASEC0406811
COLLAGENOMA, FAMILIAL CUTANEOUSC0406817
Jaw fixationC0407800
Arthritis (hip)C0409207
Ochronotic arthropathyC0409224
Flexion contractures (elbow)C0409338
Elbow flexion contracturesC0409338
Elbow flexion contractureC0409338
Flexion contracture (elbow)C0409338
Flexion contractures of proximal interphalangeal jointsC0409348
Hip flexion contracturesC0409354
Flexion contracture (hip)C0409354
Flexion contracture of hipsC0409354
Flexion contractures (hips)C0409354
Flexion contractures of hipsC0409354
Knee flexion contractureC0409355
Flexion contracture of kneesC0409355
Flexion contractures (knees)C0409355
Knee flexion contracturesC0409355
Recurrent joint subluxationC0409373
Knee ankylosisC0409473
Protrusio acetabuliC0409495
PROTRUSIO ACETABULIC0409495
CINCA SYNDROMEC0409818
CINCAC0409818
CHRONIC NEUROLOGIC CUTANEOUS AND ARTICULAR SYNDROMEC0409818
OSTEOARTHRITIS OF DISTAL INTERPHALANGEAL JOINTSC0409957
OADIPC0409957
DIPOAC0409957
Knee osteoarthritisC0409959
TRIGGER THUMBC0410060
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2CC0410173
SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR DYSTROPHY, NORTH AFRICAN TYPEC0410173
DMDAC0410173
MAGHREBIAN MYOPATHYC0410173
SCARMDC0410173
DMDA1C0410173
DUCHENNE-LIKE MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE, TYPE 1C0410173
ADHALIN DEFICIENCY, SECONDARYC0410173
SARCOGLYCAN, GAMMA, DEFICIENCY OFC0410173
LGMD2CC0410173
MUSCULAR DYSTROPHY, DUCHENNE-LIKEC0410173
FUKUYAMA CONGENITAL MUSCULAR DYSTROPHYC0410174
MUSCULAR DYSTROPHY, CONGENITAL, WITH CENTRAL NERVOUS SYSTEM INVOLVEMENTC0410174
MUSCULAR DYSTROPHY, CONGENITAL PROGRESSIVE, WITH MENTAL RETARDATIONC0410174
MICROPOLYGYRIA WITH MUSCULAR DYSTROPHYC0410174
CEREBROMUSCULAR DYSTROPHY, FUKUYAMA TYPEC0410174
MUSCULAR DYSTROPHY, CONGENITAL, FUKUYAMA TYPEC0410174
FCMDC0410174
ULLRICH CONGENITAL MUSCULAR DYSTROPHYC0410179
ULLRICH DISEASEC0410179
ULLRICH SCLEROATONIC MUSCULAR DYSTROPHYC0410179
UCMDC0410179
MUSCULAR DYSTROPHY, SCLEROATONICC0410179
MUSCULAR DYSTROPHY, CONGENITAL, EICHSFELD TYPEC0410180
RSSC0410180
RSMD1C0410180
MULTIMINICORE DISEASE, SEVERE CLASSIC FORMC0410180
RIGID SPINE SYNDROMEC0410180
DESMIN-RELATED MYOPATHY WITH MALLORY BODIESC0410180
MULTICORE MYOPATHY, SEVERE CLASSIC FORMC0410180
MYOPATHY, DESMIN-RELATED, ASSOCIATED WITH MUTATION IN THE SEPN1 GENEC0410180
MINICORE MYOPATHY, SEVERE CLASSIC FORMC0410180
RIGID SPINE MUSCULAR DYSTROPHY 1C0410180
MDRS1C0410180
MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE, WITH EARLY SPINE RIGIDITYC0410180
MUSCULAR DYSTROPHY, HUTTERITE TYPEC0410182
EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANTC0410190
EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANTC0410190
HAUPTMANN-THANNHAUSER MUSCULAR DYSTROPHYC0410190
EMERY-DREIFUSS MUSCULAR DYSTROPHY 2C0410190
SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHYC0410190
EMD2C0410190
MUSCULAR DYSTROPHY WITH EARLY CONTRACTURES AND CARDIOMYOPATHY, AUTOSOMAL DOMINANTC0410190
EDMD2C0410190
MUSCULAR DYSTROPHY, SCAPULOHUMERALC0410192
Myopathy, proximalC0410198
MYOPATHY, CENTRONUCLEARC0410203
MYOTUBULAR MYOPATHY, X-LINKEDC0410203
MYOTUBULAR MYOPATHY 1C0410203
CNMC0410203
XLMTMC0410203
MTMXC0410203
MTM1C0410203
MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVEC0410204
MYOTUBULAR MYOPATHY, AUTOSOMAL RECESSIVEC0410204
MYOPATHY, TUBULAR AGGREGATEC0410207
TUBULAR AGGREGATE MYOPATHYC0410207
MYOPATHY WITH ABNORMAL LIPID METABOLISMC0410214
Lipid storage myopathyC0410214
LIPID STORAGE MYOPATHYC0410214
Achilles tendon contracturesC0410264
Contractures of the Achilles tendonC0410264
Hamstring contracturesC0410266
OSTEOMYELITIS, CHRONIC MULTIFOCALC0410422
OCMC0410422
CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITISC0410422
CRMOC0410422
Avascular necrosis of femoral headC0410480
FEMORAL HEAD, AVASCULAR NECROSIS OFC0410480
ISCHEMIC NECROSIS OF FEMORAL HEADC0410480
OSTEONECROSIS OF FEMORAL HEADC0410480
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARYC0410480
ANFHC0410480
HYPOCHONDROPLASIAC0410529
HCHC0410529
METACHONDROMATOSISC0410530
PSEUDOACHONDROPLASIAC0410538
PSEUDOACHONDROPLASTIC DYSPLASIAC0410538
PSACHC0410538
SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTICC0410538
CRANIODIAPHYSEAL DYSPLASIAC0410539
CDDC0410539
Vertebral collapseC0410550
Schmorl`s nodesC0410632
Atlantoaxial instabilityC0410653
ADOLESCENT IDIOPATHIC SCOLIOSISC0410702
AISC0410702
Neonatal deathC0410916
Wide cranial suturesC0410935
OCULAR DOMINANCEC0422883
Primitive reflexesC0422895
OscillopsiaC0422980
Hypometric saccadesC0423082
Hypermetric saccadesC0423083
Upward-slanting palpebral fissuresC0423109
Upward slanting of palpebral fissuresC0423109
Upward slanting palpebral fissuresC0423109
Downward-slanting palpebral fissuresC0423110
Downward slanting palpebral fissuresC0423110
Short palpebral fissureC0423112
Short palpebral fissuresC0423112
short palpebral fissuresC0423112
TELECANTHUSC0423113
TelecanthusC0423113
TearingC0423153
HETEROCHROMIA IRIDISC0423318
Heterochromia iridisC0423318
Iris atrophyC0423319
Narrowing of retinal vesselsC0423389
RETINAL VENOUS BEADINGC0423397
Macular atrophyC0423421
Macular scarringC0423428
Choroidal atrophyC0423450
Ankle arthralgiaC0423660
Wrist arthralgiaC0423667
High pain thresholdC0423727
Thin skinC0423757
Palmar pitsC0423776
Easy bruisabilityC0423798
Easy bruisingC0423798
Short nailsC0423808
Nail groovingC0423818
Grooved nailsC0423818
Nail ridgingC0423820
Thin nailsC0423823
Punctate leukonychiaC0423830
DistichiasisC0423848
DISTICHIASISC0423848
EYELASHES, TWO ROWS OFC0423848
Fine hairC0423867
Thin hairC0423867
Normal intelligenceC0423900
Hypnopompic hallucinationsC0424082
Social withdrawalC0424095
Motor retardationC0424230
Psychomotor retardationC0424230
Hyperactive behaviorC0424295
HyperactivityC0424295
HyperkinesisC0424295
DisinhibitionC0424296
Inappropriate laughterC0424304
Violent behaviorC0424323
Mask-like faciesC0424448
Masklike faciesC0424448
Full lipsC0424485
Everted lipsC0424485
Dysmorphic faciesC0424503
Delayed developmentC0424605
Developmental delayC0424605
developmental delayC0424605
Broad skullC0424693
HypotelorismC0424711
Single transverse palmar creaseC0424731
Single transverse palmar creasesC0424731
Simian creaseC0424731
Cold feetC0424741
Learning difficultiesC0424939
Poor mobilityC0425258
Premature thelarcheC0425772
Asymmetric breastC0425779
Small breastC0425785
Peau d`orangeC0425791
Absent nipplesC0425795
Large areolaeC0425806
Small clitorisC0425843
Double cervixC0425885
Absent uterusC0425913
Small noseC0426414
Large noseC0426415
Wide nasal bridgeC0426421
Narrow noseC0426422
Narrow nasal bridgeC0426422
Bifid nasal tipC0426428
Broad nasal tipC0426429
Flattened noseC0426431
Wide nostrilsC0426440
Normal teethC0426482
Small tongueC0426492
Voracious appetiteC0426584
Absent kidneysC0426706
Small prostateC0426733
Narrow thoraxC0426790
Shield shaped chestC0426792
Hypoplasia of clavicleC0426799
Clavicular hypoplasiaC0426799
Hypoplastic clavicleC0426799
Hypoplastic claviclesC0426799
Broad claviclesC0426801
Hooked claviclesC0426805
Short claviclesC0426807
Long claviclesC0426808
Pseudoarthrosis of clavicleC0426811
Missing ribsC0426816
Short ribsC0426817
Thin ribsC0426818
Thick ribsC0426820
Wide ribsC0426820
Rachitic rosaryC0426824
Beaded ribsC0426824
Sacral dimpleC0426848
Short armsC0426857
Large handsC0426870
Trident handC0426874
Long, thin fingersC0426884
Tapering fingersC0426886
Tapered fingersC0426886
Broad thumbsC0426891
Broad thumbC0426891
Tibial torsionC0426900
Short legsC0426901
Large, broad feetC0426912
Missing toesC0426934
Muscle pseudohypertrophyC0426941
Dystonic posturingC0426961
Spastic quadriplegiaC0426970
Spastic tetraplegiaC0426970
StiffnessC0427008
`Stiffness`C0427008
Facial muscle weaknessC0427055
Weakness of the facial musclesC0427055
Facial weaknessC0427055
Shoulder girdle weaknessC0427063
Pelvic girdle weaknessC0427064
Pelvic girdle muscle weaknessC0427064
Distal muscle weaknessC0427065
Muscle weakness, distalC0427065
Involuntary movementsC0427086
Steppage gaitC0427149
`Steppage` gaitC0427149
Truncal ataxiaC0427190
Rheumatoid factor negativeC0427391
Negative rheumatoid factorC0427391
Normal serum folateC0427422
Platelet count normalC0427564
Normal platelet countC0427564
Normal platelet countsC0427564
MacrothrombocytesC0427566
CSF lymphocytosisC0427877
Normal sweat testC0428133
Normal alpha fetoproteinC0428522
Aortic valve calcificationC0428791
AORTIC VALVE, CALCIFICATION OFC0428791
AORTIC STENOSIS, CALCIFICC0428791
Pulmonary artery dilatationC0428851
Right-to-left shuntC0428871
BradycardiaC0428977
Pentagastrin stimulation testC0430136
Negative direct antiglobulin (Coombs) testC0430261
Frontal encephaloceleC0431289
Lobar holoprosencephalyC0431362
Partial agenesis of corpus callosumC0431368
Corpus callosum agenesis, partialC0431368
Atrophy of the corpus callosumC0431370
Absence of septum pellucidumC0431371
Agenesis of the septum pellucidumC0431371
Septum pellucidum cystC0431372
Type II lissencephalyC0431376
Lissencephaly type IIC0431376
Cortical dysplasiaC0431380
ColpocephalyC0431384
Agenesis of cerebellar vermisC0431399
JOUBERT-BOLTSHAUSER SYNDROMEC0431399
CEREBELLOPARENCHYMAL DISORDER IVC0431399
JOUBERT SYNDROME 1C0431399
CORS1C0431399
CEREBELLOOCULORENAL SYNDROME 1C0431399
JBTS1C0431399
CPD4C0431399
GILLESPIE SYNDROMEC0431401
DEPRESSOR ANGULI ORIS MUSCLE, HYPOPLASIA OFC0431406
ASYMMETRIC CRYING FACIESC0431406
FACIAL PARESIS, PARTIAL, UNILATERALC0431406
ACFC0431406
CAYLER CARDIOFACIAL SYNDROMEC0431406
CHIARI MALFORMATION TYPE IC0431411
CM1C0431411
SynophrysC0431447
Absent eyebrowsC0431448
Posteriorly-rotated earsC0431478
Posteriorly rotated earsC0431478
`Simple` earsC0431483
Simple earsC0431483
Laryngeal hypoplasiaC0431527
Cleft tongueC0431560
Lobulated tongueC0431564
Lobulate tongueC0431564
Tongue hamartomaC0431565
BILIARY ATRESIA, EXTRAHEPATICC0431594
EHBAC0431594
MULLERIAN APLASIAC0431637
MULLERIAN DUCT FAILUREC0431637
Hypoplastic scrotumC0431659
Cryptorchidism, bilateralC0431663
Bilateral cryptorchidismC0431663
GLOMERULOCYSTIC KIDNEY, FAMILIAL HYPOPLASTICC0431693
MODY5C0431693
FJHN, ATYPICALC0431693
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, ATYPICALC0431693
RENAL CYSTS AND DIABETES SYNDROMEC0431693
GLOMERULOCYSTIC KIDNEY DISEASE, HYPOPLASTIC TYPEC0431693
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VC0431693
RCADC0431693
Multiple renal cystsC0431718
HUMERORADIAL SYNOSTOSISC0431800
HUMERORADIAL SYNOSTOSISC0431800
Humeroradial synostosisC0431800
Carpal synostosisC0431863
THUMBS, CONGENITAL CLASPEDC0431886
THUMBS, CONGENITAL CLASPEDC0431886
ADDUCTED THUMBS SYNDROMEC0431886
ADDUCTED THUMBS SYNDROMEC0431886
Thumb hypoplasiaC0431890
Hypoplastic thumbsC0431890
Hypoplastic thumb(s)C0431890
VERTICAL TALUS, CONGENITALC0431979
ROCKER-BOTTOM FOOTC0431979
Vertical talusC0431979
CVTC0431979
Autosomal recessiveC0441748
Bilateral hilar adenopathyC0442838
NeuropathyC0442874
Autosomal dominantC0443147
Ridged teethC0447361
Penile urethraC0447590
Interdigital skin websC0448885
Ulnar deviationC0449752
UrolithiasisC0451641
Hearing loss, sensorineural, bilateralC0452138
Perineal hypospadiasC0452148
Hypernasal voiceC0454555
Spastic dysarthriaC0454596
Articulation defectsC0454633
Expressive language delayC0454641
Word-finding difficultiesC0454643
Delayed language developmentC0454644
Small scrotumC0455792
Hydrops fetalis, non-immuneC0455988
HYDROPS FETALIS, IDIOPATHICC0455988
Hydrops fetalis, nonimmuneC0455988
Nonimmune hydrops fetalisC0455988
HYDROPS FETALIS, NONIMMUNEC0455988
Delayed growthC0456070
Large for gestational ageC0456091
Large fontanelleC0456132
Large fontanellesC0456132
Large fontanelsC0456132
Large fontanelC0456132
Wide fontanellesC0456132
Enlarged fontanellesC0456132
Small fontanellesC0456133
Normal birth weightC0456136
Sliding herniaC0456274
Lack of motivationC0456814
PULMONARY HYPOPLASIA, PRIMARYC0456891
BlindnessC0456909
Loss of visionC0456909
CURRY-HALL SYNDROMEC0457013
BOOK SYNDROMEC0457014
PHC SYNDROMEC0457014
MUSCLE-EYE-BRAIN DISEASEC0457133
MEBC0457133
Absent teethC0457756
Foot callusC0457978
AirwaysC0458827
HEAD AND NECKC0460004
HEMANGIOMAS, CAVERNOUS, OF FACE AND SUPRAUMBILICAL MIDLINE RAPHEC0472694
RAPHE, SUPRAUMBILICAL MIDLINE, WITH CAVERNOUS FACIAL HEMANGIOMASC0472694
STERNAL NONUNION WITH SUPRAUMBILICAL RAPHEC0472694
HYPOGAMMAGLOBULINEMIA AND ISOLATED GROWTH HORMONE DEFICIENCY, X-LINKEDC0472813
FLEISHER SYNDROMEC0472813
AGAMMAGLOBULINEMIA AND ISOLATED GROWTH HORMONE DEFICIENCY, X-LINKEDC0472813
IGHD IIIC0472813
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IIIC0472813
WHIM SYNDROMEC0472817
WARTS, HYPOGAMMAGLOBULINEMIA, INFECTIONS, AND MYELOKATHEXISC0472817
Protracted diarrheaC0473133
HYPOURICEMIA, RENALC0473219
RENAL HYPOURICEMIAC0473219
DALMATIAN HYPOURICEMIAC0473219
HypoalphalipoproteinemiaC0473527
VIBRATORY ANGIOEDEMAC0473546
ANGIOEDEMA, VIBRATORYC0473546
TELANGIECTASIA, GENERALIZED ESSENTIALC0473555
SKIN CREASES, MULTIPLE BENIGN RING-SHAPED, OF LIMBSC0473586
MICHELIN TIRE BABY SYNDROMEC0473586
Intramuscular hematomasC0473767
THROMBOCYTOPENIA, NEONATAL ALLOIMMUNEC0473780
THROMBOCYTOPENIA, NEONATAL ALLOIMMUNEC0473780
THROMBOCYTOPENIA, NEONATAL ALLOIMMUNEC0473780
THROMBOCYTOPENIA, NEONATAL ALLOIMMUNEC0473780
THROMBOCYTOPENIA, NEONATAL ALLOIMMUNEC0473780
NAITC0473780
Inappropriate sexual behaviorC0474420
HALO NEVIC0474824
LEUKODERMA ACQUISITUM CENTRIFUGUM OF SUTTONC0474824
CEREBROSIDE SULFATASE ACTIVATORC0475344
HYPERCALCEMIA, INFANTILEC0475732
ENDOMETRIAL CANCERC0476089
Abnormal head movementsC0476217
Respiratory distressC0476273
BREATH-HOLDING SPELLSC0476287
BHSC0476287
Abnormal echocardiogramC0476369
Abnormal ERGC0476397
Abnormal electroretinogramC0476397
Reduced vital capacityC0476408
Generalized lymphadenopathyC0476486
Osteomalacia in adultsC0477680
Split footC0432028
2-3 toe syndactylyC0432040
Syndactyly (2-3 toe)C0432040
Syndactyly (toes 2-3)C0432040
Syndactyly of toes 2 and 3C0432040
2,3 toe syndactylyC0432040
Bifid digitsC0432050
2-3 finger syndactylyC0432055
Syndactyly, 2-3 fingerC0432055
CLEFT SOFT PALATEC0432098
Cleft soft palateC0432098
Submucous cleft palateC0432103
MIDLINE CLEFT SYNDROMEC0432107
TRIGONOCEPHALY, NONSYNDROMICC0432122
CRANIOSYNOSTOSIS, METOPICC0432122
KLEEBLATTSCHAEDEL SYNDROMEC0432126
CLOVERLEAF SKULL SYNDROMEC0432126
Lumbar hemivertebraeC0432149
Thoracic hemivertebraeC0432152
CERVICAL VERTEBRAE, AGENESIS OFC0432160
Vertebral segmentation defectsC0432163
Rib anomaliesC0432172
SCHNECKENBECKEN DYSPLASIAC0432194
CHONDRODYSPLASIA, LETHAL NEONATAL, WITH SNAIL-LIKE PELVISC0432194
SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIIC0432197
SRPS, TYPE IIIC0432197
VERMA-NAUMOFF SYNDROMEC0432197
POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE IIIC0432197
SHORT RIB-POLYDACTYLY SYNDROME, TYPE IVC0432198
SHORT RIB SYNDROME, BEEMER TYPEC0432198
SRPS IVC0432198
BEEMER-LANGER SYNDROMEC0432198
BOOMERANG DYSPLASIAC0432201
PSEUDODIASTROPHIC DYSPLASIAC0432206
DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPEC0432208
DYSSEGMENTAL DWARFISM, SILVERMAN-HANDMAKER TYPEC0432208
ANISOSPONDYLIC CAMPTOMICROMELIC DWARFISM, SILVERMAN-HANDMAKER TYPEC0432208
DDSHC0432208
DYSSEGMENTAL DYSPLASIA, ROLLAND-DESBUQUOIS TYPEC0432209
ANISOSPONDYLIC CAMPTOMICROMELIC DWARFISM, ROLLAND-DESBUQUOIS TYPEC0432209
DYSSEGMENTAL DWARFISM, ROLLAND-DESBUQUOIS TYPEC0432209
DDRDC0432209
OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIAC0432210
OSMEDC0432210
NANCE-INSLEY SYNDROMEC0432210
NANCE-SWEENEY CHONDRODYSPLASIAC0432210
CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESSC0432210
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, IRAPA TYPEC0432213
SEMDITC0432213
PROGRESSIVE PSEUDORHEUMATOID DYSPLASIAC0432215
PPDC0432215
PPACC0432215
ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOODC0432215
PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOODC0432215
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHYC0432215
SEDT-PAC0432215
EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUSC0432217
WOLCOTT-RALLISON SYNDROMEC0432217
IDDM-MED SYNDROMEC0432217
MED-IDDM SYNDROMEC0432217
OPSISMODYSPLASIAC0432219
SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPEC0432221
SPONDYLOMETAPHYSEAL DYSPLASIA, SUTCLIFFE TYPEC0432221
SPONDYLOENCHONDRODYSPLASIAC0432222
SEMC0432222
SPONDYLOENCHONDROMATOSISC0432222
SPONDYLOMETAPHYSEAL DYSPLASIA WITH ENCHONDROMATOUS CHANGESC0432222
SPENCDC0432222
CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPEC0432224
CHONDRODYSPLASIA PUNCTATA, MT TYPEC0432224
METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPEC0432225
METAPHYSEAL ANADYSPLASIAC0432226
BRACHYRACHIAC0432227
BRACHYOLMIAC0432228
LANGER MESOMELIC DYSPLASIAC0432230
DYSCHONDROSTEOSIS, HOMOZYGOUSC0432230
MESOMELIC DWARFISM OF THE HYPOPLASTIC ULNA, FIBULA, AND MANDIBLE TYPEC0432230
NIEVERGELT SYNDROMEC0432231
MESOMELIC DYSPLASIA, NIEVERGELT TYPEC0432231
TRICHORHINOPHALANGEAL SYNDROME, TYPE IC0432233
TRPS IC0432233
TRPS1C0432233
CRANIOECTODERMAL DYSPLASIAC0432235
SENSENBRENNER SYNDROMEC0432235
LEVIN SYNDROME IC0432235
KYPHOMELIC DYSPLASIAC0432239
BOWING, CONGENITAL, WITH SHORT BONESC0432239
DESBUQUOIS SYNDROMEC0432242
MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATIONC0432242
DBQDC0432242
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITYC0432243
SEMDJLC0432243
OSTEOGENESIS IMPERFECTA, TYPE IIBC0432250
OI2BC0432250
OI, TYPE IIBC0432250
OSTEOGENESIS IMPERFECTA, PERINATAL LETHAL, AUTOSOMAL RECESSIVEC0432250
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROMEC0432252
OPSC0432252
OPPGC0432252
OSTEOGENESIS IMPERFECTA, OCULAR FORMC0432252
SINGLETON-MERTEN SYNDROMEC0432254
GERODERMA OSTEODYSPLASTICAC0432255
GOC0432255
WALT DISNEY DWARFISMC0432255
GERODERMIA OSTEODYSPLASTICAC0432255
DYSOSTEOSCLEROSISC0432262
CRANIOFACIAL DYSOSTOSIS WITH DIAPHYSEAL HYPERPLASIAC0432263
OSTEOSCLEROSIS, STANESCU TYPEC0432263
OSTEOMESOPYKNOSISC0432264
AXIAL OSTEOSCLEROSISC0432264
ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATIONC0432267
TAY SYNDROMEC0432267
OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSISC0432268
OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSISC0432268
HYPEROSTOSIS GENERALISATA WITH STRIATIONSC0432268
OSCSC0432268
OSCSC0432268
LENZ-MAJEWSKI HYPEROSTOTIC DWARFISMC0432269
VAN BUCHEM DISEASEC0432272
HYPEROSTOSIS CORTICALIS GENERALISATAC0432272
HYPERPHOSPHATASEMIA TARDAC0432272
VBCHC0432272
ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL RECESSIVEC0432272
OSTEOSCLEROSIS, AUTOSOMAL DOMINANTC0432273
HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS PALATINUSC0432273
ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANTC0432273
DYSPLASIA EPIPHYSEALIS HEMIMELICAC0432282
TREVOR DISEASEC0432282
OSTEOGLOPHONIC DYSPLASIAC0432283
OSTEOGLOPHONIC DWARFISMC0432283
OGDC0432283
MYOFIBROMATOSIS, INFANTILEC0432284
FIBROMATOSIS, CONGENITAL GENERALIZEDC0432284
CGFC0432284
DERMOCHONDROCORNEAL DYSTROPHYC0432288
FRANCOIS SYNDROMEC0432288
WINCHESTER SYNDROMEC0432289
CRANIOMANDIBULAR DERMATODYSOSTOSISC0432291
MADAC0432291
LIPODYSTROPHY, TYPE A, ASSOCIATED WITH MANDIBULOACRAL DYSPLASIAC0432291
MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHYC0432291
EXPANSILE OSTEOLYSIS, FAMILIALC0432292
OSTEOLYSIS, FAMILIAL EXPANSILEC0432292
FAMILIAL EXPANSILE OSTEOLYSISC0432292
FEOC0432292
EOFC0432292
POLYOSTOTIC OSTEOLYTIC DYSPLASIA, HEREDITARY EXPANSILEC0432292
HEPODC0432292
MCCABE DISEASEC0432292
OFEC0432292
ICHTHYOSIS, LAMELLAR, AUTOSOMAL DOMINANTC0432304
LAMELLAR ICHTHYOSIS, AUTOSOMAL DOMINANTC0432304
ICHTHYOSIS BULLOSA OF SIEMENSC0432306
IBSC0432306
ICHTHYOSIS, BULLOUS TYPEC0432306
ICHTHYOSIS HYSTRIX GRAVIORC0432311
PORCUPINE MANC0432311
LAMBERT TYPE ICHTHYOSISC0432311
EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATIONC0432316
SPECKLED HYPERPIGMENTATION WITH PUNCTATE PALMOPLANTAR KERATOSES AND CHILDHOOD BLISTERINGC0432316
EBS-MPC0432316
EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPEC0432317
EBS1C0432317
EBSOC0432317
EPIDERMOLYSIS BULLOSA SIMPLEX 1C0432317
EPIDERMOLYSIS BULLOSA, PRETIBIALC0432321
EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPEC0432322
ALBOPAPULOID DOMINANT DYSTROPHIC EBC0432322
EBDDC0432322
NEONATAL CUTIS LAXA WITH MARFANOID PHENOTYPEC0432335
PSEUDOMONILETHRIXC0432346
UNCOMBABLE HAIR SYNDROMEC0432347
PILI TRIANGULI ET CANALICULIC0432347
Spun-glass hairC0432347
FOCAL FACIAL DERMAL DYSPLASIAC0432353
BRAUER SYNDROMEC0432353
BITEMPORAL APLASIA CUTIS CONGENITAC0432353
FFDD, TYPE IC0432353
HEREDITARY SYMMETRICAL APLASTIC NEVI OF TEMPLESC0432353
Nipple hypoplasiaC0432355
Small nipplesC0432356
AMASTIAC0432357
Shagreen patchC0432363
CHROMOSOME 18p DELETION SYNDROMEC0432442
18p- SYNDROMEC0432442
CHROMOSOME 18q DELETION SYNDROMEC0432443
18q- SYNDROMEC0432443
CHROMOSOME 18q- SYNDROMEC0432443
Dislocation of radial headC0434609
Dislocation of the radial headC0434609
Radial head dislocationC0434609
Dislocation of toesC0434717
Knee subluxationC0434792
Normal liver function testC0438235
Normal liver function testsC0438235
Elevated transaminasesC0438717
Increased transaminasesC0438717
HeightC0489786
Seizures, tonic-clonicC0494475
Seizures, generalized tonic-clonicC0494475
Generalized tonic-clonic seizuresC0494475
Generalized clonic-tonic seizuresC0494475
Generalized tonic clonic seizuresC0494475
Generalized tonic-clonic seizures (GTCS)C0494475
FIBROSCLEROSIS, MULTIFOCALC0494949
RETROPERITONEAL FIBROSIS, FAMILIALC0494949
MEDIASTINAL FIBROSIS, FAMILIALC0494949
Abnormal sweatingC0497130
Lymph node hyperplasiaC0497156
Abnormal eye movementC0497202
Abnormal eye movementsC0497202
DementiaC0497327
Benign gastrointestinal tract tumorsC0497538
Tooth abscessesC0518988
Chronic active hepatitisC0520463
Hepatitis, chronic activeC0520463
TRACHEOPATHIA OSTEOPLASTICAC0520538
TRACHEOBRONCHOPATHIA OSTEOCHONDROPLASTICAC0520538
Hepatic arteriovenous malformationC0520557
Liver arteriovenous malformationC0520557
Obstructive sleep apneaC0520679
APNEA, OBSTRUCTIVE SLEEPC0520679
OBSTRUCTIVE SLEEP APNEA SYNDROMEC0520679
OSAC0520679
OSASC0520679
SLEEP APNEA/HYPOPNEA SYNDROMEC0520679
SAHSC0520679
OSAHSC0520679
APNEA, CENTRAL SLEEPC0520680
APNEA, CENTRAL SLEEPC0520680
Central apneaC0520680
SLEEP APNEA, LETHAL CENTRALC0520680
OPTICOCOCHLEODENTATE DEGENERATIONC0520711
PALLIDOPONTONIGRAL DEGENERATIONC0520716
PPNDC0520716
PYROPOIKILOCYTOSIS, HEREDITARYC0520739
PYROPOIKILOCYTOSIS, HEREDITARYC0520739
PYROPOIKILOCYTOSIS, HEREDITARYC0520739
PYROPOIKILOCYTOSIS, HEREDITARYC0520739
HPPC0520739
Decreased vital capacityC0520831
ATRIOVENTRICULAR CONDUCTION TIMEC0520877
PR INTERVALC0520877
Decreased fertilityC0520927
Late menarcheC0520930
Normal psychomotor developmentC0520948
IncoordinationC0520966
Impaired coordinationC0520966
SKELETALC0521324
RESPIRATORYC0521346
GastrointestinalC0521362
GASTROINTESTINALC0521362
ENDOCRINEC0521425
MitochondrialC0521451
Short neckC0521525
Short trunkC0521527
Diaphragmatic weaknessC0521532
Eyelid colobomasC0521573
Eyelid colobomaC0521573
Lid colobomaC0521573
Congenital strabismusC0521579
Perianal skin tagsC0521605
Peritoneal fibrosisC0521607
Ureteral stenosisC0521618
Pelviureteric junction obstructionC0521619
HydroureterC0521620
HydrouretersC0521620
MegaureterC0521620
Ureteral dilatationC0521620
Chorioretinal atrophyC0521683
chorioretinal atrophyC0521683
Retinal atrophyC0521694
Bilateral cataractsC0521707
CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANEC0521723
COGAN CORNEAL DYSTROPHYC0521723
EBMDC0521723
CORNEAL DYSTROPHY, MICROCYSTICC0521723
CORNEAL DYSTROPHY, ANTERIOR BASEMENT MEMBRANEC0521723
CORNEAL DYSTROPHY, MAP-DOT-FINGERPRINT TYPEC0521723
DEAFNESS, UNILATERALC0521785
DYSPLASMINOGENEMIAC0521808
Susceptibility to infectionC0521978
Abnormal electrocardiogramC0522055
Abnormal EKGC0522055
Abnormal visual-evoked potentialsC0522214
Abnormal visual evoked potentialsC0522214
Abnormal auditory evoked potentialsC0522216
ParalysisC0522224
Normal reflexesC0522225
Brisk tendon reflexesC0522227
Dysconjugate gazeC0522335
CATARACT, MEMBRANOUSC0524524
Pervasive developmental disorderC0524528
MULIBREY NANISMC0524582
PERHEENTUPA SYNDROMEC0524582
MUSCLE-LIVER-BRAIN-EYE NANISMC0524582
PERICARDIAL CONSTRICTION AND GROWTH FAILUREC0524582
Aseptic necrosis of femoral headC0524595
METABOLIC SYNDROME XC0524620
ABDOMINAL OBESITY-METABOLIC SYNDROMEC0524620
AOMS1C0524620
TCRBC0524891
T-CELL ANTIGEN RECEPTOR, BETA SUBUNITC0524891
T-CELL REARRANGING GENE, GAMMAC0524892
TRGC0524892
TCRGC0524892
T-CELL ANTIGEN RECEPTOR, GAMMA SUBUNITC0524892
TCRDC0524893
T-CELL ANTIGEN RECEPTOR, DELTA SUBUNITC0524893
CDK4 INHIBITORC0525037
p16(INK4)C0525037
p16(INK4A)C0525037
MULTIPLE TUMOR SUPPRESSOR 1C0525037
CDKN2C0525037
MTS1C0525037
TP16C0525037
CYCLIN-DEPENDENT KINASE INHIBITOR 2AC0525037
CDKN2AC0525037
Mood disordersC0525045
ACTIVIN BETA-AC0532964
METAVINCULINC0533666
ENDOSTATINC0534628
UGT1A1C0537026
GNT1C0537026
UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1C0537026
UGT1C0537026
UDP-GLYCOSYLTRANSFERASE 1C0537026
URIDINE DIPHOSPHATE GLUCURONOSYLTRANSFERASE, BILIRUBIN/PHENOLC0537026
URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 1C0537026
URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1C0537026
PHENOL/BILIRUBIN UDP-GLUCURONOSYLTRANSFERASEC0537026
Increased androgensC0541730
Liver adenomasC0541760
HEPATIC ADENOMAC0541760
Delayed bone ageC0541764
Retarded bone ageC0541764
Abnormal platelet aggregationC0541767
Increased serum gamma-globulinC0541985
Loss of speechC0542223
Behavioral changesC0542299
SomniloquismC0542313
PERIODONTITIS, PREPUBERTALC0542324
PERIODONTITIS, JUVENILEC0542324
PPPC0542324
JPC0542324
JPDC0542324
PERIODONTITIS, AGGRESSIVE, 1C0542324
Narrow palpebral fissuresC0542354
ForgetfulnessC0542476
Blue scleraC0542514
Blue scleraeC0542514
Large kidneysC0542518
Enlarged kidneysC0542518
Renal agenesisC0542519
Absent kidneyC0542519
Posterior urethral valvesC0542520
Facial edemaC0542571
Edema of the faceC0542571
GLYCINURIA WITH OR WITHOUT OXALATE UROLITHIASISC0543541
IMINOGLYCINURIA TYPE IIC0543541
NEUTROPHILIA, HEREDITARYC0543669
STORAGE POOL PLATELET DISEASEC0543679
SCHIZOPHRENIA 10C0543918
CATATONIA, PERIODICC0543918
SCZD10C0543918
SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 15q-RELATEDC0543918
Genu varumC0544755
Leg bowingC0544755
Bowed legsC0544755
Bowing of legsC0544755
Bowing of the legsC0544755
Genu varusC0544755
BowlegC0544755
HypomyelinationC0544820
LEUKONYCHIA TOTALISC0544855
PORCELAIN NAILSC0544855
MELANOSIS, NEUROCUTANEOUSC0544862
Somatic mutationC0544886
Autophagic vacuolesC0544966
ACROKERATOELASTOIDOSISC0545044
COLLAGENOUS PLAQUES OF HANDS AND FEETC0545044
PALMOPLANTAR ECTODERMAL DYSPLASIA TYPE IIIC0545044
KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE IIIC0545044
AKEC0545044
Advanced bone ageC0545053
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTIONC0546264
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTIONC0546264
FIBER-TYPE DISPROPORTION MYOPATHY, CONGENITALC0546264
CFTDC0546264
CFTDMC0546264
MEMBRANOUS OBSTRUCTION OF INFERIOR VENA CAVAC0546323
MOVCC0546323
Cystoid macular degenerationC0546382
Lung cystsC0546483
FACIAL ASYMMETRYC0546952
Facial asymmetryC0546952
HEMIFACIAL MICROSOMIAC0546952
FACIAL HEMIHYPERTROPHYC0546952
HEMIFACIAL HYPERPLASIAC0546952
HFMC0546952
Brittle nailsC0546956
Genu recurvatumC0546964
MONILETHRIXC0546966
MONILETHRIXC0546966
Posterior embryotoxonC0546967
Branchial cleft fistulaeC0546968
PREAURICULAR FISTULAE, CONGENITALC0546969
EAR PITSC0546969
PAFCC0546969
Visual disturbancesC0547030
Low frustration toleranceC0548883
Frontal lobe syndromeC0549117
HypermobileC0549185
MesomeliaC0549306
Deviated nasal septumC0549397
Increased LDL cholesterolC0549399
Increased LDLC0549399
Low APGAR scoresC0549400
Skin fragilityC0549419
Increased hemoglobinC0549448
CHOLESTEROL PNEUMONIAC0549472
Thyroid carcinomaC0549473
Thyroid cancerC0549473
Placenta & Umbilical CordC0553522
Placenta and umbilical cordC0553522
Decreased IgAC0553533
EWING SARCOMAC0553580
Ewing sarcomaC0553580
ESC0553580
WATSON SYNDROMEC0553586
WATSON SYNDROMEC0553586
NEUROFIBROMATOSIS WITH NOONAN PHENOTYPEC0553586
NEUROFIBROMATOSIS-NOONAN SYNDROMEC0553586
NOONAN-NEUROFIBROMATOSIS SYNDROMEC0553586
NFNSC0553586
CAFE-AU-LAIT SPOTS WITH PULMONIC STENOSISC0553586
PULMONIC STENOSIS WITH CAFE-AU-LAIT SPOTSC0553586
Rheumatoid arthritis, juvenileC0553662
HypofibrinogenemiaC0553681
Hemorrhagic strokeC0553692
SpherocytosisC0553720
Decreased sweatingC0553721
Squamous cell carcinoma of the skinC0553723
Muscular paralysisC0553727
ChondrocalcinosisC0553730
Endomyocardial fibrosisC0553980
Impaired left ventricular functionC0553982
Villous atrophyC0554101
Fat malabsorptionC0554103
Ischiopubic synchondrosisC0554603
Pale optic discC0554970
Pale optic discsC0554970
Pale optic disksC0554970
Pale optic diskC0554970
Pallor of optic discsC0554970
Large earsC0554972
Aggressive outburstsC0554985
GIGANTIFORM CEMENTOMA, FAMILIALC0555197
CEMENTAL DYSPLASIA, PERIAPICALC0555197
CEMENTOMAS, FAMILIAL MULTIPLEC0555197
CHIARI MALFORMATION TYPE IIC0555206
ARNOLD-CHIARI MALFORMATIONC0555206
CM2C0555206
Uterine atresiaC0555225
Absence of fibulaC0555245
Absence of the fibulaC0555245
Global developmental delayC0557874
Developmental delay, globalC0557874
HAIR, CURLYC0558165
Curly hairC0558165
Taut skinC0558242
Tight skinC0558242
PansinusitisC0558362
Absent ankle reflexesC0558845
Absent ankle jerksC0558845
Sacrococcygeal teratomaC0559459
PENTALOGY OF CANTRELLC0559483
Inability to walkC0560046
Difficulty runningC0560346
Inability to standC0560885
Loss of the outer third of the eyebrowsC0561728
Perineal fistulaC0561921
ANAL CANAL CARCINOMAC0563211
Poor coordinationC0563243
Difficulty in opening mouthC0563350
Protruding tongueC0563387
Avoidant personality traitsC0564537
Nasal voiceC0566620
Unintelligible speechC0566625
Wide sacrosciatic notchC0566887
Narrow sacrosciatic notchC0566888
Narrow sacrosciatic notchesC0566888
Narrowed sacrosciatic notchC0566888
Small labia majoraC0566899
Small uterusC0567041
Absent ovaryC0567250
Absent ovariesC0567250
Normal breastC0567498
GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCYC0574080
BARTH SYNDROMEC0574083
BTHSC0574083
CARDIOSKELETAL MYOPATHY WITH NEUTROPENIA AND ABNORMAL MITOCHONDRIAC0574083
MGA, TYPE IIC0574083
[email protected] ACIDURIA, TYPE IIC0574083
MGA2C0574083
COSTEFF SYNDROMEC0574084
MGA3C0574084
OPTIC ATROPHY, INFANTILE, WITH CHOREA AND SPASTIC PARAPLEGIAC0574084
[email protected] ACIDURIA, TYPE IIIC0574084
MGA, TYPE IIIC0574084
IRAQI-JEWISH `OPTIC ATROPHY PLUS`C0574084
OPTIC ATROPHY PLUS SYNDROMEC0574084
OPA3, AUTOSOMAL RECESSIVEC0574084
OPTIC ATROPHY 3, AUTOSOMAL RECESSIVEC0574084
METACHROMATIC LEUKODYSTROPHY DUE TO DEFICIENCY OF CEREBROSIDE SULFATASE ACTIVATORC0574134
Normal nailsC0574760
SacroiliitisC0574960
Cervical spine hypermobilityC0574967
Finger joint hypermobilityC0574974
Finger joint laxityC0574992
Positive Gowers signC0575071
Gait abnormalitiesC0575081
Gait difficultiesC0575081
Abnormal gaitC0575081
Gait disorderC0575081
Gait disturbanceC0575081
Gait disturbancesC0575081
Balance impairmentC0575090
Impaired balanceC0575090
Spinal deformitiesC0575157
KyphoscoliosisC0575158
Cervical kyphosisC0575170
Small thoraxC0575483
Short sternumC0575497
Small scapulaC0575530
Small scapulaeC0575530
Small handsC0575802
Radial deviation of handsC0575803
THUMB DEFORMITYC0575897
Genu valgumC0576093
Genu valgaC0576093
Genua valgaC0576093
Genua valgumC0576093
Genu valgusC0576093
Small feetC0576224
Long feetC0576225
short feetC0576226
Short feetC0576226
Narrow feetC0576227
Poor feedingC0576456
Impaired joint position senseC0576694
Normal sensationC0576709
Absent tonsilsC0576999
Absent gallbladderC0577063
Absent bladderC0577176
Absent vas deferensC0577229
Normal fertilityC0577275
Quadriceps weaknessC0577655
Absent peripheral pulsesC0577850
Normal handsC0578014
Normal growthC0578019
Thin lipsC0578038
Blue iridesC0578626
Sparse eyebrowsC0578682
Loss of eyebrowsC0578682
Thin eyebrowsC0578682
Difficulty in schoolC0580094
Poor visual acuityC0580104
Normal EMGC0580356
Decreased prothrombin timeC0580413
Normal serum acid phosphataseC0580465
Decreased serum albuminC0580493
Normal blood glucoseC0580545
Loss of judgementC0580938
Knee flexion deformitiesC0581324
Recurrent sinusitisC0581354
Recurrent upper respiratory tract infectionsC0581381
Limited hip motionC0582203
Adenocarcinoma of the ileumC0582430
Small pinnaeC0584784
Choanal stenosisC0584837
Difficulty writingC0584995
Writing difficultiesC0584995
ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROMEC0585216
HEMOGLOBIN H DISEASE, ACQUIREDC0585216
ATMDSC0585216
Nystagmus, downbeatC0585544
Upbeat nystagmusC0585545
tongue polypsC0585631
Recurrent chest infectionsC0585953
LaryngotracheomalaciaC0585984
Absent patellaC0586734
Absent patellaeC0586734
Bladder polypsC0586737
Difficulty readingC0586742
Normal heightC0587053
Limb weaknessC0587246
COSTELLO SYNDROMEC0587248
COSTELLO SYNDROMEC0587248
FACIOCUTANEOSKELETAL SYNDROMEC0587248
FCS SYNDROMEC0587248
Increased reticulocytesC0595863
StillbirthC0595939
HANHART SYNDROMEC0595985
Laryngeal carcinomaC0595989
Absent uretersC0595994
IS1C0595995
SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO,C0595995
Flexion deformities of fingersC0596017
ARYL HYDROCARBON RECEPTORC0596123
AHRC0596123
Islets of Langerhans hyperplasiaC0597167
BRCA2 GENEC0598034
BRCA2C0598034
FANCD1C0598034
BREAST CANCER 2, EARLY-ONSETC0598034
FANCD1 GENEC0598034
EncephalomyelopathyC0598106
Diffuse cerebral atrophyC0598275
Loss of neuronsC0598940
Gastrointestinal refluxC0599290
ERGC0599295
V-ETS AVIAN ERYTHROBLASTOSIS VIRUS E26 ONCOGENE RELATEDC0599295
SPASTIC PSEUDOSCLEROSISC0599464
CORTICOPALLIDODEGENERATIONC0599464
DISSEMINATED ENCEPHALOMYELOPATHYC0599464
MICROPHTHALMIA WITH LIMB ANOMALIESC0599973
WAARDENBURG ANOPHTHALMIA SYNDROMEC0599973
OPHTHALMOACROMELIC SYNDROMEC0599973
ANOPHTHALMIA-SYNDACTYLYC0599973
p PHENOTYPEC0599990
Absent nailsC0600021
Congenital aspleniaC0600031
AspleniaC0600031
Splenic agenesisC0600031
Obsessive-compulsive behaviorC0600104
APC RESISTANCEC0600433
Genetic anticipationC0600498
Choroidal neovascularizationC0600518
XH ANTIGENC0604085
SENSORY AND MOTOR NEURON-DERIVED FACTORC0626201
SMDFC0626201
PROTEIN 4.1 PRESLESC0655902
PACAP-RELATED PEPTIDEC0667675
PRPC0667675
NITRIC OXIDE SYNTHASE, NEURONALC0669368
OREXIN AC0671870
HYPOCRETIN 1C0671870
HCRT1C0671870
OREXIN BC0671872
HYPOCRETIN 2C0671872
HCRT2C0671872
Inspiratory stridorC0677600
HASHIMOTO THYROIDITISC0677607
Hashimoto thyroiditisC0677607
HASHIMOTO STRUMAC0677607
HTC0677607
OVARIAN CANCER, EPITHELIALC0677886
EPITHELIAL OVARIAN CANCERC0677886
EOCC0677886
MAGE3C0677907
MAGEA3C0677907
MELANOMA ANTIGEN, FAMILY A, 3C0677907
Anemia, dyserythropoieticC0678199
REGIONAL ENTERITISC0678202
CROHN DISEASEC0678202
IBD1C0678202
INFLAMMATORY BOWEL DISEASE 1C0678202
Breast carcinomaC0678222
EPICANTHUSC0678230
EpicanthusC0678230
Rare disorderC0678236
ALCOHOL SENSITIVITYC0678306
Cognitive deficitsC0679466
Intellectual impairmentC0683322
MyokymiaC0684219
MYOKYMIAC0684219
HypsarrhythmiaC0684276
HypsarrythmiaC0684276
NEUROEPITHELIOMA, PERIPHERALC0684337
PNEC0684337
CAMPTODACTYLYC0685409
CamptodactylyC0685409
Hypoplasia of the fibulaC0685428
Rib hypoplasiaC0685624
ThoracoschisisC0685639
Single naresC0685682
Abnormal lung lobationC0685695
Cleft mandibleC0685786
Facial cleftsC0685787
OVARIAN DYSGENESIS 1C0685838
OVARIAN FAILURE, HYPERGONADOTROPICC0685838
PERRAULT SYNDROMEC0685838
GONADAL DYSGENESIS, XX TYPEC0685838
XX GONADAL DYSGENESISC0685838
GONADAL DYSGENESIS, XX TYPE, WITH DEAFNESSC0685838
OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESSC0685838
OVARIAN DYSGENESIS, HYPERGONADOTROPIC, AUTOSOMAL RECESSIVEC0685838
XXGDC0685838
ODG1C0685838
OVARIAN DYSGENESIS, HYPERGONADOTROPIC, WITH NORMAL KARYOTYPEC0685838
Thymus hypoplasiaC0685891
Thymic hypoplasiaC0685891
Thymic aplasiaC0685894
THYMIC APLASIAC0685894
TARDIVE DYSKINESIAC0686347
Lack of ossificationC0686761
NephronophthisisC0687120
Medullary cystic diseaseC0687120
NEPHRONOPHTHISIS, FAMILIAL JUVENILEC0687120
NPHP1C0687120
NPH1C0687120
NEPHRONOPHTHISIS 1C0687120
Pure gonadal dysgenesisC0687149
PARATHYROID CARCINOMAC0687150
PARATHYROID CARCINOMAC0687150
Parathyroid carcinomasC0687150
PRTCC0687150
Gastrointestinal infectionsC0687715
Central diabetes insipidusC0687720
DIABETES INSIPIDUS, PRIMARY CENTRALC0687720
DIABETES INSIPIDUS, CRANIAL TYPEC0687720
DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPEC0687720
DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPEC0687720
AcanthocytosisC0687751
Moderate obesityC0694533
Obesity, moderateC0694533
Pneumonia, recurrentC0694550
Recurrent pneumoniaC0694550
Polyarticular arthritisC0694562
Excessive daytime sleepinessC0694563
Migratory arthritisC0694577
E-CADHERINC0694872
LIVER CELL ADHESION MOLECULEC0694872
UVOMORULINC0694872
CADHERIN 1C0694872
CALCIUM-DEPENDENT ADHESION PROTEIN, EPITHELIALC0694872
ECADC0694872
UVOC0694872
CDH1C0694872
CADHERIN, EPITHELIALC0694872
CDHEC0694872
LCAMC0694872
CYCLIN-DEPENDENT KINASE 4C0694873
CDK4C0694873
PSK-J3C0694873
CELL DIVISION KINASE 4C0694873
EXT1C0694878
EXOSTOSIN 1C0694878
EXTC0694878
EXT2C0694879
EXOSTOSIN 2C0694879
SERINE/THREONINE PROTEIN KINASE 11C0694883
LKB1C0694883
STK11C0694883
MEN1 GENEC0694884
MEA IC0694884
MEN IC0694884
WERMER SYNDROMEC0694884
ENDOCRINE ADENOMATOSIS, MULTIPLEC0694884
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IC0694884
MEN1C0694884
PHOSPHATASE AND TENSIN HOMOLOGC0694888
PTEN1C0694888
MUTATED IN MULTIPLE ADVANCED CANCERS 1C0694888
MMAC1C0694888
PTENC0694888
PHOSPHATASE AND TENSIN HOMOLOG DELETED ON CHROMOSOME 10C0694888
RB1 GENEC0694889
RETINOBLASTOMAC0694889
RBC0694889
RB1C0694889
RETC0694890
REARRANGED DURING TRANSFECTION PROTOONCOGENEC0694890
RET PROTOONCOGENEC0694890
HIRSCHSPRUNG DISEASE, PROTECTION AGAINSTC0694890
DPC4C0694891
SMAD4C0694891
MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4C0694891
SMA- AND MAD-RELATED PROTEIN 4C0694891
MADH4C0694891
DELETED IN PANCREATIC CARCINOMA 4C0694891
TSC1 GENEC0694894
HAMARTINC0694894
TSC1C0694894
TSC2 GENEC0694895
TUBERINC0694895
TSC2C0694895
TSC4 GENE, FORMERLYC0694895
TSC4, FORMERLYC0694895
VHL GENEC0694897
VHLC0694897
WILMS TUMOR 1 GENEC0694898
WT1C0694898
WT2C0694899
MTACR1C0694899
MULTIPLE TUMOR-ASSOCIATED CHROMOSOME REGION 1C0694899
WILMS TUMOR 2C0694899
Rib fracturesC0695648
Congenital muscular dystrophyC0699743
Muscular dystrophy, congenitalC0699743
Colon carcinomaC0699790
Colon cancerC0699790
COLON CANCERC0699790
Bladder carcinomaC0699885
Anxiety attacksC0700031
Decreased deep tendon reflexesC0700078
Multiple neviC0700199
Nevi, multipleC0700199
Sleep disturbanceC0700201
Secondary scoliosisC0700208
Increased serum creatinineC0700225
Arterial hypoxemiaC0700292
HEINZ BODY ANEMIASC0700299
THYROID AUTOANTIBODIESC0700384
Primary hypothyroidismC0700502
DiaphoresisC0700590
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPEC0700635
Spondylometaphyseal dysplasiaC0700635
SPONDYLOMETAPHYSEAL DYSPLASIAC0700635
SEMD, STRUDWICK TYPEC0700635
SEMDCC0700635
SMDC0700635
SPONDYLOMETAEPIPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPEC0700635
STRUDWICK SYNDROMEC0700635
DAPPLED METAPHYSIS SYNDROMEC0700635
SMED, STRUDWICK TYPEC0700635
SMED, TYPE IC0700635
Perinatal deathC0701826
AnotiaC0702139
AcneC0702166
Plasma cholinesteraseC0728810
INHERITANCEC0728826
OligodactylyC0728895
PRETERM PREMATURE RUPTURE OF THE MEMBRANESC0729264
PPROMC0729264
FLOATING-HARBOR SYNDROMEC0729582
Choroidal dystrophyC0730291
Macular dystrophyC0730292
MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPEC0730294
CAPEDC0730294
NORTH CAROLINA MACULAR DYSTROPHYC0730294
CENTRAL AREOLAR PIGMENT EPITHELIAL DYSTROPHYC0730294
MCDR1C0730294
RETINAL PIGMENT EPITHELIAL DYSTROPHY, CENTRALC0730294
FOVEAL DYSTROPHY, PROGRESSIVEC0730294
NCMDC0730294
FACTOR VIII-VON WILLEBRAND FACTORC0732093
F8VWFC0732093
Hypophosphatemic ricketsC0733682
HYPOPHOSPHATEMIA, X-LINKEDC0733682
XLHC0733682
VITAMIN D-RESISTANT RICKETS, X-LINKEDC0733682
HYPC0733682
HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANTC0733682
HPDRC0733682
HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETSC0733682
Cerebellar atrophyC0740279
5q- SYNDROMEC0740302
MARC0740302
CHROMOSOME 5q DELETION SYNDROMEC0740302
MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5q DELETIONC0740302
Wrist deformityC0740335
TRICHOTHIODYSTROPHYC0740342
HAIR-BRAIN SYNDROMEC0740342
BIDS SYNDROMEC0740342
ABHSC0740342
AMISH BRITTLE HAIR BRAIN SYNDROMEC0740342
Decreased cortisolC0740379
HyperuricemiaC0740394
Auditory and visual hallucinationsC0740399
Lower extremity weaknessC0740428
Increased unconjugated bilirubinC0740435
KIDNEY CANCERC0740457
Upper airway obstructionC0740852
Hypochloremic metabolic alkalosisC0740895
Hypokalemic hypochloremic metabolic alkalosisC0740896
Hypokalemic metabolic alkalosisC0740898
Elevated maternal serum alpha-fetoproteinC0740927
Increased serum ammoniaC0740942
Autonomic dysfunctionC0741307
Increased total bilirubinC0741494
Abnormal bleedingC0741553
Recurrent bronchitisC0741796
Cardiac defectsC0741916
Increased cardiac enzymesC0741921
Cerebellar vermis atrophyC0742028
Atrophy of cerebellar vermisC0742028
Cerebellar signsC0742038
High-output congestive heart failureC0742747
Difficult deliveryC0743013
Dementia, progressiveC0743039
Progressive dementiaC0743039
Insulin resistant diabetes mellitusC0743125
Insulin-resistant diabetes mellitusC0743125
Dysphagia, progressiveC0743319
Prolong QT interval on EKGC0743431
Prolonged QT interval on EKGC0743431
Exertional fatigueC0743838
Increased ferritinC0743912
Genital abnormalitiesC0744356
Gibbus deformityC0744400
HypereosinophiliaC0745091
HYPERLIPOPROTEINEMIA, TYPE IIAC0745103
Hypoglycemia, acuteC0745150
Hypoglycemic episodesC0745153
Chronic lung diseaseC0746102
Chronic malnutritionC0746367
Paraspinal massesC0746413
Recurrent meningitisC0746495
Generalized muscle weaknessC0746674
Muscle weakness, generalizedC0746674
Focal neurologic deficitsC0746857
Hyperpigmented neviC0746889
Generalized osteopeniaC0747078
Recurrent otitis mediaC0747085
Pleural effusions, chronicC0747636
Recurrent aspiration pneumoniaC0747651
Progressive renal failureC0748318
Renal insufficiency, progressiveC0748318
Respiratory impairmentC0748358
ARTHRITIS, SACROILIACC0748473
Nocturnal seizuresC0748605
Recurrent seizuresC0748607
Shoulder weaknessC0748691
Psoriasiform skin lesionsC0748814
StillbornC0749019
Thoracolumbar scoliosisC0749379
THYROID AGENESISC0749420
THYROID CARCINOMA, HURTHLE CELLC0749424
HURTHLE CELL THYROID NEOPLASIAC0749424
Upper motor neuron signsC0749870
Recurrent upper respiratory infectionsC0749871
Biconcave vertebraeC0750210
Intractable vomitingC0750323
COUMARIN RESISTANCEC0750384
WARFARIN RESISTANCEC0750384
COUMARIN, POOR METABOLISM OFC0750384
Increased serum alkaline phosphataseC0750857
Alzheimer disease, early-onsetC0750901
DEVELOPMENTAL VERBAL DYSPRAXIAC0750927
DVDC0750927
SPCH1C0750927
SPEECH AND LANGUAGE DISORDER WITH OROFACIAL DYSPRAXIAC0750927
SPEECH-LANGUAGE DISORDER 1C0750927
Arnold Chiari type I malformationC0750929
Arnold-Chiari type I malformationC0750929
Limb ataxiaC0750937
COCKAYNE SYNDROME, TYPE IIIC0751037
CS, TYPE CC0751037
COCKAYNE SYNDROME, TYPE BC0751038
CKN2C0751038
CSBC0751038
COCKAYNE SYNDROME, TYPE AC0751039
CSAC0751039
CKN1C0751039
Developmental disorder of communicationC0751050
FRONTOTEMPORAL LOBAR DEGENERATIONC0751072
FTLDC0751072
Diplopia, intermittentC0751078
Limb dystoniaC0751093
SEVERE MYOCLONIC EPILEPSY OF INFANCYC0751122
MYOCLONIC EPILEPSY, SEVERE, OF INFANCYC0751122
MYOCLONIC EPILEPSY, SEVERE, OF INFANCYC0751122
SMEC0751122
DRAVET SYNDROMEC0751122
SMEIC0751122
GALACTOSE EPIMERASE DEFICIENCYC0751161
GALACTOSEMIA IIIC0751161
UDP-GALACTOSE-4-EPIMERASE DEFICIENCYC0751161
GALE DEFICIENCYC0751161
AstrocytosisC0751171
Cystathionine beta-synthase deficiencyC0751202
Hypothalamic dysfunctionC0751230
CREUTZFELDT-JAKOB DISEASE, FAMILIALC0751254
CREUTZFELDT-JAKOB DISEASEC0751254
CJDC0751254
Learning disabilitiesC0751265
METACHROMATIC LEUKODYSTROPHY, JUVENILEC0751276
METACHROMATIC LEUKODYSTROPHY, LATE INFANTILEC0751278
METACHROMATIC LEUKODYSTROPHY, ADULTC0751279
METACHROMATIC LEUKODYSTROPHY, ADULTC0751279
METACHROMATIC LEUKODYSTROPHY, ADULTC0751279
MAPLE SYRUP URINE DISEASE, THIAMINE-RESPONSIVEC0751285
MEDULLOBLASTOMA, DESMOPLASTICC0751291
Memory lossC0751295
SPINAL MUSCULAR ATROPHY, SCAPULOPERONEALC0751335
SCAPULOPERONEAL SPINAL MUSCULAR ATROPHYC0751335
AMYOTROPHY, NEUROGENIC SCAPULOPERONEAL, NEW ENGLAND TYPEC0751335
SPSMAC0751335
EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKEDC0751337
SCAPULOPERONEAL MUSCULAR DYSTROPHYC0751337
SPMC0751337
HUMEROPERONEAL NEUROMUSCULAR DISEASE, FORMERLYC0751337
SCAPULOPERONEAL MYOPATHYC0751337
EDMD1C0751337
EMD1C0751337
SPMDC0751337
EDMDC0751337
MUSCULAR DYSTROPHY, TARDIVE, DREIFUSS-EMERY TYPE, WITH CONTRACTURESC0751337
SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPEC0751337
SCAPULOPERONEAL SYNDROME, X-LINKED, FORMERLYC0751337
Percussion myotoniaC0751359
BECKER DISEASEC0751360
MYOTONIA, GENERALIZEDC0751360
MYOTONIA CONGENITA, AUTOSOMAL RECESSIVEC0751360
VOGT-SPIELMEYER DISEASEC0751383
BATTEN DISEASEC0751383
NEURONAL CEROID LIPOFUSCINOSIS, JUVENILEC0751383
CLN3C0751383
CEROID LIPOFUSCINOSIS, NEURONAL, 3C0751383
SPIELMEYER-SJOGREN DISEASEC0751383
JNCLC0751383
OphthalmoparesisC0751401
Phenylalanine hydroxylase deficiencyC0751434
HyperphenylalaninemiaC0751435
PhonophobiaC0751466
PALMOMENTAL REFLEXC0751470
Decreased gag reflexC0751476
Seizures, focalC0751495
Syncopal episodesC0751534
MORVAN DISEASEC0751540
NEUROPATHY, CONGENITAL SENSORYC0751540
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIC0751540
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC0751540
HSAN2C0751540
NEUROPATHY, PROGRESSIVE SENSORY, OF CHILDRENC0751540
ACROOSTEOLYSIS, GIACCAI TYPEC0751540
HSAN IIC0751540
HSN IIC0751540
HSN2C0751540
ACROOSTEOLYSIS, NEUROGENICC0751540
NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVEC0751540
Pill rolling tremorC0751564
Unilateral paralysis of the vocal cordC0751575
Vocal cord paresisC0751576
ARACHNOID CYSTS, INTRACRANIALC0751615
Semilobar holoprosencephalyC0751617
LYMPHANGIOLEIOMYOMATOSISC0751674
LAMC0751674
LYMPHANGIOMYOMATOSISC0751674
Malignant schwannomaC0751690
NEUROAXONAL DYSTROPHY, LATE INFANTILEC0751718
HYPERGLYCINEMIA, NONKETOTICC0751748
NKHC0751748
GCEC0751748
GLYCINE ENCEPHALOPATHYC0751748
CPS I DEFICIENCYC0751753
CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCYC0751753
CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TOC0751753
MYOCLONIC EPILEPSY, PROGRESSIVEC0751778
Myoclonic epilepsy, progressiveC0751778
ACTION MYOCLONUS-RENAL FAILURE SYNDROMEC0751779
MYOCLONUS-NEPHROPATHY SYNDROMEC0751779
AMRFC0751779
DENTATORUBRAL-PALLIDOLUYSIAN ATROPHYC0751781
MYOCLONIC EPILEPSY WITH CHOREOATHETOSISC0751781
NAITO-OYANAGI DISEASEC0751781
NODC0751781
DRPLAC0751781
LAFORA DISEASEC0751783
LAFORA BODY DISEASEC0751783
MYOCLONIC EPILEPSY OF LAFORAC0751783
EPILEPSY, PROGRESSIVE MYOCLONIC 2AC0751783
EPM2C0751783
MELFC0751783
EPM2AC0751783
LBDC0751783
PROGRESSIVE MYOCLONIC EPILEPSYC0751785
BALTIC MYOCLONIC EPILEPSYC0751785
PMEC0751785
EPM1C0751785
MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORGC0751785
ULDC0751785
EPILEPSY, PROGRESSIVE MYOCLONIC 1C0751785
Gait ataxiaC0751837
Ataxic gaitC0751837
PROSOPAGNOSIA, DEVELOPMENTALC0751842
PROSOPAGNOSIA, CONGENITALC0751842
FACE BLINDNESSC0751842
PROSOPAGNOSIA, HEREDITARYC0751842
MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNELC0751885
CMS IIaC0751885
MYASTHENIC SYNDROME, CONGENITAL, POSTSYNAPTIC SLOW-CHANNELC0751885
MYASTHENIC SYNDROME, CONGENITAL, TYPE IIaC0751885
SCCMSC0751885
CMS2AC0751885
Motor `tics`C0751900
CENTRAL CORE DISEASEC0751951
CENTRAL CORE DISEASEC0751951
Acute strokeC0751956
ONCOGENE SISC0751995
PDGF2C0751995
PDGFBC0751995
SIMIAN SARCOMA VIRAL ONCOGENE HOMOLOGC0751995
V-SIS PLATELET-DERIVED GROWTH FACTOR, BETA POLYPEPTIDEC0751995
PLATELET-DERIVED GROWTH FACTOR, B CHAINC0751995
PDGF, B CHAINC0751995
PLATELET-DERIVED GROWTH FACTOR, BETA POLYPEPTIDEC0751995
SSVC0751995
OLIVOPONTOCEREBELLAR ATROPHY IC0752120
SPINOCEREBELLAR ATAXIA 1C0752120
OLIVOPONTOCEREBELLAR ATROPHY IVC0752120
SCA1C0752120
MENZEL TYPE OPCAC0752120
OPCA4C0752120
CEREBELLOPARENCHYMAL DISORDER IC0752120
OPCA IVC0752120
OPCA IC0752120
SCHUT-HAYMAKER TYPE OPCAC0752120
CPD1C0752120
SPINOCEREBELLAR ATROPHY IC0752120
OPCA1C0752120
SPINOCEREBELLAR ATAXIA 2C0752121
SCA2C0752121
SDSEMC0752121
SDSEMC0752121
OLIVOPONTOCEREBELLAR ATROPHY IIC0752121
SPINOCEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTSC0752121
SPINOCEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTSC0752121
WADIA-SWAMI SYNDROMEC0752121
SPINOCEREBELLAR ATROPHY IIC0752121
CEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTSC0752121
SPINOCEREBELLAR ATAXIA, CUBAN TYPEC0752121
OLIVOPONTOCEREBELLAR ATROPHY, HOLGUIN TYPEC0752121
OPCA2C0752121
SPINOCEREBELLAR ATAXIA 4C0752122
SPINOCEREBELLAR ATAXIA, AUTOSOMAL DOMINANT, WITH SENSORY AXONAL NEUROPATHYC0752122
SCA4C0752122
SPINOCEREBELLAR ATAXIA 5C0752123
SCA5C0752123
SPINOCEREBELLAR ATAXIA 6C0752124
SPINOCEREBELLAR ATAXIA 6C0752124
SPINOCEREBELLAR ATAXIA 6C0752124
SCA6C0752124
SPINOCEREBELLAR ATAXIA 7C0752125
OPCA3C0752125
AUTOSOMAL DOMINANT CEREBELLAR ATAXIA, TYPE IIC0752125
ADCA, TYPE IIC0752125
OPCA IIIC0752125
OLIVOPONTOCEREBELLAR ATROPHY IIIC0752125
OPCA WITH RETINAL DEGENERATIONC0752125
SCA7C0752125
OPCA WITH MACULAR DEGENERATION AND EXTERNAL OPHTHALMOPLEGIAC0752125
BARDET-BIEDL SYNDROMEC0752166
BBSC0752166
CHIMERIN, ALPHA-2C0752230
NERVE GROWTH FACTOR, ALPHA SUBUNITC0752316
NGFAC0752316
Focal clonic seizuresC0752323
DIFFUSE LEWY BODY DISEASEC0752347
LEWY BODY DEMENTIAC0752347
DEMENTIA, LEWY BODYC0752347
DEMENTIA, LEWY BODYC0752347
DLBC0752347
PROXIMAL MYOTONIC MYOPATHYC0752354
MYOTONIC MYOPATHY, PROXIMALC0752354
DM2C0752354
DYSTROPHIA MYOTONICA 2C0752354
MYOTONIC DYSTROPHY 2C0752354
PROMMC0752354
RICKER SYNDROMEC0752354
MYOTONIA FLUCTUANSC0752355
MYOTONIA FLUCTUANSC0752355
MYOTONIA CONGENITA, ATYPICALC0752355
MYOTONIA CONGENITA, ACETAZOLAMIDE-RESPONSIVEC0752355
MYOTONIA PERMANENSC0752355
SODIUM CHANNEL MUSCLE DISEASEC0752355
MYOTONIA, POTASSIUM-AGGRAVATEDC0752355
FLICE2C0758959
FADD-LIKE ICE 2C0758959
CITC0759909
CITRONC0759909
TRANSCRIPTIONAL COACTIVATOR p52C0761476
NUP96C0767633
NUCLEOPORIN, 96-KDC0767633
OmphaloceleC0795690
OMPHALOCELEC0795690
OMPHALOCELEC0795690
Increased blood lactateC0795692
Increased blood lactic acidC0795692
CHORIORETINAL DYSPLASIA-MICROCEPHALY-MENTAL RETARDATION SYNDROMEC0795793
CHORIORETINAL DYSPLASIA-MICROCEPHALY-MENTAL RETARDATION SYNDROMEC0795793
RECOMBINANT CHROMOSOME 8 SYNDROMEC0795822
REC8 SYNDROMEC0795822
SAN LUIS VALLEY SYNDROMEC0795822
CHROMOSOME 9q SUBTELOMERIC DELETION SYNDROMEC0795833
9q- SYNDROMEC0795833
9q SUBTELOMERIC DELETION SYNDROMEC0795833
CHROMOSOME 10q DELETION SYNDROMEC0795839
TERMINAL CHROMOSOME 10q DELETION SYNDROMEC0795839
JACOBSEN SYNDROMEC0795841
PARTIAL 11q MONOSOMY SYNDROMEC0795841
JBSC0795841
CHROMOSOME 11q DELETION SYNDROMEC0795841
SMITH-MAGENIS SYNDROMEC0795864
SMSC0795864
ALLAN-HERNDON-DUDLEY SYNDROMEC0795889
ALLAN-HERNDON SYNDROMEC0795889
AHDSC0795889
MENTAL RETARDATION, X-LINKED, WITH HYPOTONIAC0795889
MENTAL RETARDATION AND MUSCULAR ATROPHYC0795889
MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCYC0795889
T3 RESISTANCEC0795889
TRIIODOTHYRONINE RESISTANCEC0795889
ALOPECIA-CONTRACTURES-DWARFISM MENTAL RETARDATION SYNDROMEC0795895
ACD MENTAL RETARDATION SYNDROMEC0795895
CLEFT PALATE-LATERAL SYNECHIA SYNDROMEC0795898
CPLS SYNDROMEC0795898
ALOPECIA-EPILEPSY-OLIGOPHRENIA SYNDROME OF MOYNAHANC0795901
MOYNAHAN ALOPECIA SYNDROMEC0795901
HYPERTRICHOTIC OSTEOCHONDRODYSPLASIAC0795905
CANTU SYNDROMEC0795905
CONOTRUNCAL ANOMALY FACE SYNDROMEC0795907
CAFSC0795907
COWCHOCK SYNDROMEC0795910
NADMRC0795910
CHARCOT-MARIE-TOOTH DISEASE WITH DEAFNESS AND MENTAL RETARDATIONC0795910
CMTX4C0795910
NEUROPATHY, AXONAL MOTOR-SENSORY, WITH DEAFNESS AND MENTAL RETARDATIONC0795910
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4C0795910
NAMSDC0795910
CROME SYNDROMEC0795914
CRANIOFACIAL MALFORMATIONS, ASYMMETRIC, WITH POLYSYNDACTYLY AND ABNORMAL SKIN AND GUT DEVELOPMENTC0795915
CURRY-JONES SYNDROMEC0795915
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, DELETION-TYPEC0795917
HEMOGLOBIN H-RELATED MENTAL RETARDATIONC0795917
ATR-16 SYNDROMEC0795917
HBHRC0795917
MENTAL RETARDATION WITH HEMOGLOBIN HC0795917
ATR, DELETION-TYPEC0795917
EDINBURGH MALFORMATION SYNDROMEC0795933
DIGITORENOCEREBRAL SYNDROMEC0795934
ERONEN SYNDROMEC0795934
BRACHYDACTYLY DUE TO ABSENCE OF DISTAL PHALANGESC0795934
DRC SYNDROMEC0795934
FACIOCARDIORENAL SYNDROMEC0795936
EASTMAN-BIXLER SYNDROMEC0795936
AMINOPTERIN SYNDROME SINE AMINOPTERINC0795939
PSEUDOAMINOPTERIN SYNDROMEC0795939
ASSAC0795939
SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATIONC0795940
FILIPPI SYNDROMEC0795940
BRACHYCEPHALY, DEAFNESS, CATARACT, MICROSTOMIA, AND MENTAL RETARDATIONC0795941
FINE-LUBINSKY SYNDROMEC0795941
FITZSIMMONS-GUILBERT SYNDROMEC0795942
FITZSIMMONS SYNDROMEC0795942
FITZSIMMONS SYNDROMEC0795942
SPASTIC PARAPLEGIA ASSOCIATED WITH BRACHYDACTYLY TYPE EC0795942
MENTAL RETARDATION WITH SPASTIC PARAPLEGIA AND PALMOPLANTAR HYPERKERATOSISC0795942
FOUNTAIN SYNDROMEC0795944
MENTAL RETARDATION, SENSORINEURAL DEAFNESS, SKELETAL ABNORMALITIES, AND COARSE FACE WITH FULL LIPSC0795944
SUBAORTIC STENOSIS--SHORT STATURE SYNDROMEC0795947
ONAT SYNDROMEC0795947
MICROCEPHALY, HIATUS HERNIA, AND NEPHROTIC SYNDROMEC0795949
GALLOWAY-MOWAT SYNDROMEC0795949
GALLOWAY SYNDROMEC0795949
NEPHROSIS-NEURONAL DYSMIGRATION SYNDROMEC0795949
NEPHROSIS-MICROCEPHALY SYNDROMEC0795949
AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHYC0795950
ANDERMANN SYNDROMEC0795950
CHARLEVOIX DISEASEC0795950
POLYNEUROPATHY, SENSORIMOTOR, WITH OR WITHOUT AGENESIS OF THE CORPUS CALLOSUMC0795950
CORPUS CALLOSUM, AGENESIS OF, WITH NEURONOPATHYC0795950
ACCPNC0795950
APROSENCEPHALY SYNDROMEC0795952
GARCIA-LURIE SYNDROMEC0795952
XK SYNDROMEC0795952
MASA SYNDROMEC0795953
MASA SYNDROMEC0795953
GAREIS-MASON SYNDROMEC0795953
ADDUCTED THUMB WITH MENTAL RETARDATIONC0795953
MENTAL RETARDATION, APHASIA, SHUFFLING GAIT, AND ADDUCTED THUMBSC0795953
SPG1C0795953
CRASH SYNDROMEC0795953
THUMB, CONGENITAL CLASPED, WITH MENTAL RETARDATIONC0795953
CLASPED THUMB AND MENTAL RETARDATIONC0795953
SPASTIC PARAPLEGIA, TYPE 1C0795953
CHYLOMICRON RETENTION DISEASEC0795956
ANDERSON DISEASEC0795956
HYPOBETALIPOPROTEINEMIA WITH ACCUMULATION OF APOLIPOPROTEIN B-LIKE PROTEIN IN INTESTINAL CELLSC0795956
ANDDC0795956
LIPID TRANSPORT DEFECT OF INTESTINEC0795956
CMRDC0795956
GOLABI-ITO-HALL SYNDROMEC0795958
CEREBELLOTRIGEMINAL DERMAL DYSPLASIAC0795959
GOMEZ-LOPEZ-HERNANDEZ SYNDROMEC0795959
MENTAL RETARDATION WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURESC0795965
GUSTAVSON SYNDROMEC0795965
GUSTC0795965
HARROD SYNDROMEC0795970
EPIDERMOLYSIS BULLOSA, MACULAR TYPEC0795974
BULLOUS DYSTROPHY, HEREDITARY MACULAR TYPEC0795974
EBMC0795974
HIRSUTISM--SKELETAL DYSPLASIA--MENTAL RETARDATION SYNDROMEC0795976
HYPOSPADIAS-MENTAL RETARDATION SYNDROMEC0795989
STRIATONIGRAL DEGENERATION, INFANTILEC0795996
STRIATAL DEGENERATION, FAMILIALC0795996
BILATERAL STRIATAL NECROSIS, INFANTILEC0795996
INFANTILE BILATERAL STRIATAL NECROSISC0795996
IBSNC0795996
SNDIC0795996
JACKSON-WEISS SYNDROMEC0795998
JACKSON-WEISS SYNDROMEC0795998
JACKSON-WEISS SYNDROMEC0795998
JACKSON-WEISS SYNDROMEC0795998
CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIESC0795998
JWSC0795998
JOHNSON NEUROECTODERMAL SYNDROMEC0796002
ALOPECIA-ANOSMIA-DEAFNESS-HYPOGONADISM SYNDROMEC0796002
JOHNSON-MCMILLIN SYNDROMEC0796002
AADH SYNDROMEC0796002
JUBERG-MARSIDI SYNDROMEC0796003
JMSC0796003
MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1C0796003
SMITH-FINEMAN-MYERS SYNDROME 1C0796003
CARPENTER-WAZIRI SYNDROMEC0796003
SFM1C0796003
MENTAL RETARDATION, X-LINKED, WITH GROWTH RETARDATION, DEAFNESS, AND MICROGENITALISMC0796003
CHUDLEY-LOWRY SYNDROMEC0796003
HOLMES-GANG SYNDROMEC0796003
MRXHF1C0796003
XLMR-HYPOTONIC FACIES SYNDROMEC0796003
SFMSC0796003
KABUKI MAKE-UP SYNDROMEC0796004
KMSC0796004
KABUKI SYNDROMEC0796004
NIIKAWA-KUROKI SYNDROMEC0796004
KAPUR-TORIELLO SYNDROMEC0796005
LONG COLUMELLA WITH CLEFT LIP/PALATE AND EYE, HEART, AND INTESTINAL ANOMALIESC0796005
KIFAFA SEIZURE DISORDERC0796010
PETERS-PLUS SYNDROMEC0796012
KRAUSE-KIVLIN SYNDROMEC0796012
PETERS ANOMALY WITH SHORT-LIMB DWARFISMC0796012
ZIMMERMANN-LABAND SYNDROMEC0796013
LABAND SYNDROMEC0796013
ZLSC0796013
FIBROMATOSIS, GINGIVAL, WITH ABNORMAL FINGERS, FINGERNAILS, NOSE AND EARS, AND SPLENOMEGALYC0796013
MICROPHTHALMIA, SYNDROMIC 1C0796016
LENZ DYSPLASIAC0796016
LENZ MICROPHTHALMIA SYNDROMEC0796016
MAA, FORMERLYC0796016
MCOPS1C0796016
SPASTIC PARAPLEGIA 23C0796019
LISON SYNDROMEC0796019
SPASTIC PARAPLEGIA WITH PIGMENTARY ABNORMALITIESC0796019
SPG23C0796019
SPASTIC PARAPARESIS, VITILIGO, PREMATURE GRAYING, CHARACTERISTIC FACIESC0796019
LOWRY-MACLEAN SYNDROMEC0796020
EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUSC0796021
LOWRY-WOOD SYNDROMEC0796021
LWSC0796021
LUJAN-FRYNS SYNDROMEC0796022
MENTAL RETARDATION, X-LINKED, WITH MARFANOID HABITUSC0796022
LYSINE MALABSORPTION SYNDROMEC0796023
MACDERMOT-WINTER SYNDROMEC0796024
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISIONC0796028
ARTSC0796028
ARTS SYNDROMEC0796028
CARDIOMYOPATHY, CONGESTIVE, WITH HYPERGONADOTROPIC HYPOGONADISMC0796031
MALOUF SYNDROMEC0796031
MALPUECH FACIAL CLEFTING SYNDROMEC0796032
FACIAL CLEFTING SYNDROME, GYPSY TYPEC0796032
MARDEN-WALKER SYNDROMEC0796033
MWSC0796033
MARTSOLF SYNDROMEC0796037
CATARACT-MENTAL RETARDATION-HYPOGONADISMC0796037
MCDONOUGH SYNDROMEC0796038
ATAXIA-DEAFNESS-RETARDATION SYNDROMEC0796045
ADR SYNDROMEC0796045
GURRIERI SYNDROMEC0796046
MERCAPTOLACTATE-CYSTEINE DISULFIDURIAC0796055
DISULFIDURIA, MIXEDC0796055
MCDUC0796055
ATAXIA-MICROCEPHALY-CATARACT SYNDROMEC0796056
AMC SYNDROMEC0796056
MESOAXIAL HEXADACTYLY AND CARDIAC MALFORMATIONC0796057
MEXICAN CARDIOMELIC DYSPLASIAC0796057
OCULOPALATOSKELETAL SYNDROMEC0796059
MICHELS SYNDROMEC0796059
CRANIOSYNOSTOSIS WITH LID ANOMALIESC0796059
MICROCEPHALY-DEAFNESS SYNDROMEC0796062
MICROCEPHALY WITH CERVICAL SPINE FUSION ANOMALIESC0796066
FEINGOLD SYNDROMEC0796068
FEINGOLD SYNDROMEC0796068
MICROCEPHALY-OCULO-DIGITO-ESOPHAGEAL-DUODENAL SYNDROMEC0796068
ODEDC0796068
MODEDC0796068
OCULODIGITOESOPHAGODUODENAL SYNDROMEC0796068
ODED SYNDROMEC0796068
MICROCEPHALY, MENTAL RETARDATION, AND TRACHEOESOPHAGEAL FISTULA SYNDROMEC0796068
MMT SYNDROMEC0796068
DIGITAL ANOMALIES WITH SHORT PALPEBRAL FISSURES AND ATRESIA OF ESOPHAGUS, OR DUODENUMC0796068
MICROPHTHALMIA, SYNDROMIC 7C0796070
MLSC0796070
MICROPHTHALMIA WITH LINEAR SKIN DEFECTSC0796070
MICROPHTHALMIA, DERMAL APLASIA, AND SCLEROCORNEAC0796070
MCOPS7C0796070
MIDAS SYNDROMEC0796070
RETINOPATHY, PIGMENTARY, AND MENTAL RETARDATIONC0796072
MIRHOSSEINI-HOLMES-WALTON SYNDROMEC0796072
MOHR-TRANEBJAERG SYNDROMEC0796074
DDPC0796074
DDSC0796074
MTSC0796074
DYSTONIA-DEAFNESS SYNDROMEC0796074
DEAFNESS SYNDROME, PROGRESSIVE, WITH BLINDNESS, DYSTONIA, FRACTURES, AND MENTAL DEFICIENCYC0796074
DEAFNESS-DYSTONIA-OPTIC ATROPHY SYNDROMEC0796074
AXENFELD-RIEGER SYNDROMEC0796075
DWARFISM, MENTAL RETARDATION, AND EYE ABNORMALITYC0796076
MOLLICA SYNDROMEC0796076
MUCOPOLYSACCHARIDOSIS TYPE VIIIC0796079
GLUCOSAMINE-6-SULFATE SULFATASE DEFICIENCYC0796079
DIFERRANTE SYNDROMEC0796079
MPS VIIIC0796079
MENTAL RETARDATION, BUENOS AIRES TYPEC0796080
MUTCHINICK SYNDROMEC0796080
GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHREC0796081
MYHRE SYNDROMEC0796081
CARDIOGENITAL SYNDROMEC0796083
NAJJAR SYNDROMEC0796083
GENITAL ANOMALY WITH CARDIOMYOPATHYC0796083
NANCE-HORAN SYNDROMEC0796085
CATARACT-DENTAL SYNDROMEC0796085
CATARACT, X-LINKED, WITH HUTCHINSONIAN TEETHC0796085
MESIODENS-CATARACT SYNDROMEC0796085
NHSC0796085
MEGALOCORNEA-MENTAL RETARDATION SYNDROMEC0796086
NEUHAUSER SYNDROMEC0796086
MMR SYNDROMEC0796086
NEUROFACIODIGITORENAL SYNDROMEC0796088
NFDR SYNDROMEC0796088
LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPEC0796089
LIS2C0796089
LISSENCEPHALY 2C0796089
OCULOCEREBROCUTANEOUS SYNDROMEC0796092
OCCSC0796092
DELLEMAN SYNDROMEC0796092
ORBITAL CYST WITH CEREBRAL AND FOCAL DERMAL MALFORMATIONSC0796092
ODONTOONYCHODERMAL DYSPLASIAC0796093
OODDC0796093
MENTAL RETARDATION, CONGENITAL HEART DISEASE, BLEPHAROPHIMOSIS, BLEPHAROPTOSIS, AND HYPOPLASTIC TEETHC0796094
OHDO BLEPHAROPHIMOSIS SYNDROMEC0796094
C SYNDROMEC0796095
OPITZ TRIGONOCEPHALY SYNDROMEC0796095
TRIGONOCEPHALY SYNDROMEC0796095
VARADI-PAPP SYNDROMEC0796099
JUBERG-HAYWARD SYNDROMEC0796099
OROFACIODIGITAL SYNDROME VIC0796099
JHSC0796099
CLEFT LIP/PALATE WITH ABNORMAL THUMBS AND MICROCEPHALYC0796099
ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIC0796099
OFD6C0796099
POLYDACTYLY, CLEFT LIP/PALATE OR LINGUAL LUMP, AND PSYCHOMOTOR RETARDATIONC0796099
OROCRANIODIGITAL SYNDROMEC0796099
OFD SYNDROME VIC0796099
OROFACIODIGITAL SYNDROME VIIC0796100
WHELAN SYNDROMEC0796100
OFD7C0796100
OFD SYNDROME VIIC0796100
ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIIC0796100
OROFACIODIGITAL SYNDROME VIIIC0796101
OFD8C0796101
ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIIIC0796101
ORAL-FACIAL-DIGITAL SYNDROME WITH HYPOPLASTIC EPIGLOTTISC0796101
OFDS VIIIC0796101
OROFACIODIGITAL SYNDROME IXC0796102
ORAL-FACIAL-DIGITAL SYNDROME WITH RETINAL ABNORMALITIESC0796102
OFD9C0796102
OFDS IXC0796102
ORAL-FACIAL-DIGITAL SYNDROME, TYPE IXC0796102
OROFACIODIGITAL SYNDROME WITH RETINAL ABNORMALITIESC0796102
PALLISTER W SYNDROMEC0796110
W SYNDROMEC0796110
RENAL HAMARTOMAS, NEPHROBLASTOMATOSIS, AND FETAL GIGANTISMC0796113
PERLMAN SYNDROMEC0796113
NEPHROBLASTOMATOSIS, FETAL ASCITES, MACROSOMIA, AND WILMS TUMORC0796113
PITT-ROGERS-DANKS SYNDROMEC0796117
PITT SYNDROMEC0796117
PRDSC0796117
MENTAL RETARDATION, UNUSUAL FACIES, AND INTRAUTERINE GROWTH RETARDATIONC0796117
OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND BONY CHANGESC0796121
PRIMROSE SYNDROMEC0796121
CATARACT-ATAXIA-DEAFNESS-RETARDATION SYNDROMEC0796123
POLYNEUROPATHY-CATARACT-DEAFNESS SYNDROMEC0796123
CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIAC0796124
PROUD SYNDROMEC0796124
ACC WITH ABNORMAL GENITALIAC0796124
ABSENT EYEBROWS AND EYELASHES WITH MENTAL RETARDATIONC0796125
PSEUDOPROGERIA SYNDROMEC0796125
AICARDI-GOUTIERES SYNDROME 1C0796126
AGSC0796126
PSEUDOTOXOPLASMOSIS SYNDROMEC0796126
AGS1C0796126
CREE ENCEPHALITISC0796126
ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSISC0796126
PSEUDO-TORCH SYNDROMEC0796126
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIcC0796132
RHSC0796132
RAMBAM-HASHARON SYNDROMEC0796132
LAD2C0796132
LEUKOCYTE ADHESION DEFICIENCY, TYPE IIC0796132
CDGIIcC0796132
CDG IIcC0796132
CDG2CC0796132
RAMON SYNDROMEC0796133
CHERUBISM, GINGIVAL FIBROMATOSIS, EPILEPSY, MENTAL DEFICIENCY, HYPERTRICHOSIS, AND STUNTED GROWTHC0796133
RENPENNING SYNDROME 1C0796135
MENTAL RETARDATION, X-LINKED 55C0796135
SUTHERLAND-HAAN X-LINKED MENTAL RETARDATION SYNDROMEC0796135
SHSC0796135
MENTAL RETARDATION, X-LINKED, RENPENNING TYPEC0796135
MENTAL RETARDATION, X-LINKED, SYNDROMIC 3C0796135
MRX55C0796135
MRXS8C0796135
MRXS3C0796135
RENS1C0796135
MENTAL RETARDATION, X-LINKED, WITH SPASTIC DIPLEGIAC0796135
MENTAL RETARDATION, X-LINKED, SYNDROMIC 8C0796135
KETOACIDURIA WITH MENTAL DEFICIENCY AND OTHER FEATURESC0796136
ATAXIA-DEAFNESS-RETARDATION SYNDROME WITH KETOACIDURIAC0796136
RICHARDS-RUNDLE SYNDROMEC0796136
DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECTC0796137
RITSCHER-SCHINZEL SYNDROMEC0796137
CRANIOCEREBELLOCARDIAC DYSPLASIAC0796137
[email protected] SYNDROMEC0796137
ROSSELLI-GULIENETTI SYNDROMEC0796139
ZLOTOGORA-OGUR SYNDROMEC0796139
CLPED1C0796139
ECTODERMAL DYSPLASIA, CLEFT LIP AND PALATE, MENTAL RETARDATION, AND SYNDACTYLYC0796139
ECTODERMAL DYSPLASIA, MARGARITA ISLAND TYPEC0796139
ECTODERMAL DYSPLASIA, TYPE 4C0796139
CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROMEC0796139
ED4C0796139
RUTHERFURD SYNDROMEC0796140
GINGIVAL HYPERTROPHY WITH CORNEAL DYSTROPHYC0796140
CORNEAL DYSTROPHY WITH GUM HYPERTROPHYC0796140
SAO PAULO MCA/MR SYNDROMEC0796142
ACLSC0796147
ACROCALLOSAL SYNDROMEC0796147
SCHINZEL ACROCALLOSAL SYNDROMEC0796147
HALLUX DUPLICATION, POSTAXIAL POLYDACTYLY, AND ABSENCE OF CORPUS CALLOSUMC0796147
SCOTT SYNDROMEC0796149
PROTHROMBIN CONVERSION DEFECT, FAMILIALC0796149
BLEEDING ABNORMALITY DUE TO DEFICIENCY OF PLATELET BINDING OF FACTOR XC0796149
PROTHROMBIN CONSUMPTION DEFICIENCYC0796149
PROTHROMBIN CONSUMPTION INHIBITOR, FAMILIALC0796149
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1C0796154
SIMPSON DYSMORPHIA SYNDROMEC0796154
DYSPLASIA GIGANTISM SYNDROME, X-LINKEDC0796154
GOLABI-ROSEN SYNDROMEC0796154
DGSXC0796154
SGBS1C0796154
SGBSC0796154
BULLDOG SYNDROMEC0796154
SDYSC0796154
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPEC0796160
SRSC0796160
SNYDER-ROBINSON SYNDROMEC0796160
SONODA SYNDROMEC0796162
ROUND FACE WITH DEPRESSED NASAL BRIDGE AND SMALL MOUTH, CONGENITAL HEART DEFECT, AND RETARDED DEVELOPMENTC0796162
SPONDYLOMETAPHYSEAL DYSPLASIA, X-LINKEDC0796172
SPONDYLOMETAPHYSEAL DYSPLASIA, RICHMOND TYPEC0796172
SPONDYLOPERIPHERAL DYSPLASIAC0796173
SPONDYLOPERIPHERAL DYSPLASIA WITH SHORT ULNAC0796173
STUVE-WIEDEMANN SYNDROMEC0796176
SWSC0796176
STWSC0796176
SJS2C0796176
STUVE-WIEDEMANN/SCHWARTZ-JAMPEL TYPE 2 SYNDROMEC0796176
SCHWARTZ-JAMPEL SYNDROME, NEONATALC0796176
SCHWARTZ-JAMPEL SYNDROME, TYPE 2C0796176
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCEC0796184
TORIELLO-CAREY SYNDROMEC0796184
PRADER-WILLI HABITUS, OSTEOPENIA, AND CAMPTODACTYLYC0796189
URBAN-ROGERS-MEYER SYNDROMEC0796189
VAN DEN BOSCH SYNDROMEC0796192
WAISMAN SYNDROMEC0796195
PARKINSONISM, EARLY-ONSET, WITH MENTAL RETARDATIONC0796195
BASAL GANGLION DISORDER WITH MENTAL RETARDATIONC0796195
WSNC0796195
BGMRC0796195
BLEPHARONASOFACIAL MALFORMATION SYNDROMEC0796197
PASHAYAN SYNDROMEC0796197
WIEACKER-WOLFF SYNDROMEC0796200
WIEACKER SYNDROMEC0796200
WWSC0796200
CONTRACTURES OF FEET, MUSCLE ATROPHY, AND OCULOMOTOR APRAXIAC0796200
APRAXIA, OCULOMOTOR, WITH CONGENITAL CONTRACTURES AND MUSCLE ATROPHYC0796200
WITTWER SYNDROMEC0796202
WTRSC0796202
SUPRABULBAR PARESIS, CONGENITALC0796204
WORSTER-DROUGHT SYNDROMEC0796204
SPINOCEREBELLAR ATAXIA, X-LINKED 1C0796205
OLIVOPONTOCEREBELLAR ATROPHY, X-LINKEDC0796205
OPCAXC0796205
SCAX1C0796205
OPCA, X-LINKEDC0796205
ATKIN-FLAITZ SYNDROMEC0796206
ATKIN SYNDROMEC0796206
MENTAL RETARDATION, X-LINKED 2C0796207
MRX2C0796207
MENTAL RETARDATION, X-LINKED 3C0796208
MRX3C0796208
MENTAL RETARDATION, X-LINKED 9C0796215
MENTAL RETARDATION, X-LINKED 44C0796215
MRX44C0796215
MRX9C0796215
MENTAL RETARDATION, X-LINKED 14C0796220
MRX14C0796220
MENTAL RETARDATION, X-LINKED 16C0796222
MRX16C0796222
MENTAL RETARDATION, X-LINKED 19C0796225
MRX19C0796225
MENTAL RETARDATION, X-LINKED 20C0796226
MRX20C0796226
MENTAL RETARDATION, X-LINKED 21C0796227
MRX21C0796227
MENTAL RETARDATION, X-LINKED 23C0796229
MRX23C0796229
C-LIKE SYNDROMEC0796232
BOHRING SYNDROMEC0796232
OPITZ TRIGONOCEPHALY-LIKE SYNDROMEC0796232
BOHRING-OPITZ SYNDROMEC0796232
MENTAL RETARDATION, X-LINKED 29C0796236
MRX29C0796236
MENTAL RETARDATION, X-LINKED 30C0796237
MRX30C0796237
MENTAL RETARDATION, X-LINKED 34C0796241
MRX34C0796241
ACROFACIAL DYSOSTOSIS, CATANIA TYPEC0796243
AFD, CATANIA TYPEC0796243
MENTAL RETARDATION, X-LINKED 54C0796244
MENTAL RETARDATION, X-LINKED 36C0796244
MENTAL RETARDATION, X-LINKED 36C0796244
MENTAL RETARDATION, X-LINKED 43C0796244
MENTAL RETARDATION, X-LINKED 43C0796244
MRX36C0796244
MRX43C0796244
MRX54C0796244
MENTAL RETARDATION, X-LINKED 41C0796248
MRX41C0796248
MENTAL RETARDATION, X-LINKED 47C0796249
MRX47C0796249
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROMEC0796250
PRTSC0796250
PARTINGTON SYNDROMEC0796250
PARTINGTON SYNDROMEC0796250
MENTAL RETARDATION, X-LINKED, SYNDROMIC 1C0796250
MRXS1C0796250
MENTAL RETARDATION, X-LINKED, WITH DYSTONIC MOVEMENTS, ATAXIA, AND SEIZURESC0796250
DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURESC0796254
PGSC0796254
PETTIGREW SYNDROMEC0796254
MENTAL RETARDATION, X-LINKED, SYNDROMIC 5C0796254
MENTAL RETARDATION, X-LINKED, WITH DANDY-WALKER MALFORMATION, BASAL GANGLIA DISEASE, AND SEIZURESC0796254
MRXS5C0796254
SABINAS BRITTLE HAIR SYNDROMEC0796271
BRITTLE HAIR AND MENTAL DEFICITC0796271
BROOKS-WISNIEWSKI-BROWN SYNDROMEC0796272
BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESSC0796274
BROWN-VIALETTO-VAN LAERE SYNDROMEC0796274
PONTOBULBAR PALSY WITH DEAFNESSC0796274
BRUNNER SYNDROMEC0796275
CARNEVALE SYNDROMEC0796279
PTOSIS OF EYELIDS WITH DIASTASIS RECTI AND HIP DYSPLASIAC0796279
OSA SYNDROMEC0796279
OCULO-SKELETAL-ABDOMINAL SYNDROMEC0796279
ACROMEGALOID FACIAL APPEARANCE SYNDROMEC0796280
AFA SYNDROMEC0796280
THICK LIPS AND ORAL MUCOSAC0796280
CAHMR SYNDROMEC0796282
CATARACT, HYPERTRICHOSIS, MENTAL RETARDATION SYNDROMEC0796282
ACRORENAL SYNDROMEC0796290
TAL1C0796355
SCLC0796355
TCL5C0796355
STEM CELL LEUKEMIA HEMATOPOIETIC TRANSCRIPTION FACTORC0796355
T-CELL ACUTE LYMPHOCYTIC LEUKEMIA 1C0796355
T-CELL LEUKEMIA/LYMPHOMA 5C0796355
N-ACETYLTRANSFERASE 2C0796518
NAT2C0796518
AAC2C0796518
INH INACTIVATIONC0796518
ISONIAZID INACTIVATIONC0796518
ACETYLATOR PHENOTYPEC0796518
ARYLAMIDE ACETYLASE 2C0796518
N-ACETYLTRANSFERASE POLYMORPHISMC0796518
TRANSLOCATION, ETS, LEUKEMIAC0796520
ETS VARIANT GENE 6C0796520
ETV6C0796520
TEL1 ONCOGENEC0796520
TELC0796520
PROTEIN C COFACTORC0807519
PCCFC0807519
VIRAL INTEGRATION REGION FLI1, MOUSE, HOMOLOG OFC0808900
FRIEND LEUKEMIA VIRUS INTEGRATION 1C0808900
FLI1C0808900
EWSC0808901
EWING SARCOMA BREAKPOINT REGION 1C0808901
EWSR1C0808901
EWS GENEC0808901
p15(INK4B)C0809183
MULTIPLE TUMOR SUPPRESSOR 2C0809183
CDK4B INHIBITORC0809183
MTS2C0809183
TP15C0809183
CYCLIN-DEPENDENT KINASE INHIBITOR 2BC0809183
CDKN2BC0809183
NRASC0809246
ONCOGENE NRASC0809246
NRAS1C0809246
NEUROBLASTOMA RAS VIRAL ONCOGENE HOMOLOGC0809246
BCL2-ASSOCIATED X PROTEINC0812198
BAXC0812198
V-ETS AVIAN ERYTHROBLASTOSIS VIRUS E26 ONCOGENE HOMOLOG 1C0812201
ETS1C0812201
ETS1 ONCOGENEC0812201
ONCOGENE ETS1C0812201
V-ETS AVIAN ERYTHROBLASTOSIS VIRUS E26 ONCOGENE HOMOLOG 2C0812202
ETS2C0812202
ETS2 ONCOGENEC0812202
ONCOGENE ETS2C0812202
NDPKAC0812204
NM23C0812204
NUCLEOSIDE DIPHOSPHATE KINASE-AC0812204
METASTASIS INHIBITION FACTOR NM23C0812204
NME1C0812204
NM23H1C0812204
NONMETASTATIC PROTEIN 23C0812204
NONMETASTATIC CELLS 1, PROTEIN EXPRESSED INC0812204
AWD, DROSOPHILA, HOMOLOG OFC0812204
GAADC0812204
NONMETASTATIC PROTEIN 23, HOMOLOG 1C0812204
AWDC0812204
GZMA-ACTIVATED DNaseC0812204
MCF.2 CELL LINE-DERIVED TRANSFORMING SEQUENCEC0812211
DBLC0812211
ONCOGENE DBLC0812211
MCF2C0812211
ONCOGENE MCF2C0812211
ONCOGENE PIM 1C0812214
PIMC0812214
PIM1C0812214
SERINE/THREONINE PROTEIN KINASE PIM1C0812214
V-RAF-1 MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1C0812215
ONCOGENE MILC0812215
ONCOGENE RAF1C0812215
RAF1C0812215
CRAFC0812215
TRANSFORMING REPLICATION-DEFECTIVE MURINE RETROVIRUS 3611-MSVC0812215
p53-BINDING PROTEIN MDM2C0812222
HDM2C0812222
MDM2C0812222
MOUSE DOUBLE MINUTE 2 HOMOLOGC0812222
ONCOPROTEIN MDM2C0812222
INT3C0812223
NOTCH4C0812223
NOTCH, DROSOPHILA, HOMOLOG OF, 4C0812223
NOTCH3, FORMERLYC0812223
ONCOGENE INT3C0812223
NOTCH, DROSOPHILA, HOMOLOG OF, 3, FORMERLYC0812223
EIF3-p48C0812224
EIF3EC0812224
INT6C0812224
EUKARYOTIC TRANSLATION INITIATION FACTOR 3, 48-KDC0812224
ONCOGENE INT6C0812224
EIF3S6, FORMERLYC0812224
EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT 6, FORMERLYC0812224
EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT EC0812224
RAC SERINE/THREONINE PROTEIN KINASEC0812228
PROTEIN KINASE B-ALPHAC0812228
PKB-ALPHAC0812228
V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 1C0812228
AKT1C0812228
ONCOGENE AKT1C0812228
WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 5AC0812229
WNT5AC0812229
ONCOGENE WNT5AC0812229
V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 2C0812230
AKT2C0812230
PROTEIN KINASE B, BETAC0812230
PKB-BETAC0812230
ONCOGENE AKT2C0812230
PKBBC0812230
IRPC0812231
WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 2C0812231
WNT2C0812231
ONCOGENE INT1-LIKE 1C0812231
INT1L1C0812231
INT1-RELATED PROTEINC0812231
WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 1C0812233
INT1C0812233
WNT1C0812233
ONCOGENE INT1C0812233
RAS HOMOLOG GENE FAMILY, MEMBER AC0812234
ARH12C0812234
RHOAC0812234
RHOH12C0812234
APLYSIA RAS-RELATED HOMOLOG 12C0812234
ARHAC0812234
RHO12C0812234
ONCOGENE RHO H12C0812234
ARH6C0812235
RAS HOMOLOG GENE FAMILY, MEMBER BC0812235
RHOBC0812235
RHOH6C0812235
ARHBC0812235
ONCOGENE RHO H6C0812235
APLYSIA RAS-RELATED HOMOLOG 6C0812235
ARH9C0812236
RAS HOMOLOG GENE FAMILY, MEMBER CC0812236
RHOH9C0812236
APLYSIA RAS-RELATED HOMOLOG 9C0812236
ARHCC0812236
RHOCC0812236
ONCOGENE RHO H9C0812236
AXL RECEPTOR TYROSINE KINASEC0812237
AXLC0812237
AXL TRANSFORMING GENEC0812237
ONCOGENE AXLC0812237
BCL3C0812238
B-CELL LEUKEMIA/LYMPHOMA 3C0812238
BCL4, FORMERLYC0812238
VAV2 ONCOGENEC0812239
ONCOGENE VAV2C0812239
VAV2C0812239
V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1C0812241
BRAFC0812241
RAFB1C0812241
BRAF1C0812241
ONCOGENE BRAFC0812241
CBLC0812242
ONCOGENE CBL2C0812242
ONCOGENE CBLC0812242
CAS-BR-M MURINE ECOTROPIC RETROVIRAL TRANSFORMING SEQUENCE HOMOLOGC0812242
TP73C0812244
p53-RELATED PROTEIN p73C0812244
TUMOR PROTEIN p73C0812244
p73C0812244
53BP2C0812245
TP53BP2C0812245
TUMOR PROTEIN p53-BINDING PROTEIN 2C0812245
ASPP2C0812245
APOPTOSIS-STIMULATING PROTEIN OF p53, 2C0812245
CACHECTINC0812246
TUMOR NECROSIS FACTORC0812246
TUMOR NECROSIS FACTOR, ALPHAC0812246
TNFC0812246
TNFAC0812246
TNF, MACROPHAGE-DERIVEDC0812246
TNF, MONOCYTE-DERIVEDC0812246
T-CELL LYMPHOMA INVASION AND METASTASIS 1C0812248
TIAM1C0812248
CHECKPOINT SUPPRESSOR 1C0812250
CHES1C0812250
V-CRK AVIAN SARCOMA VIRUS CT10 ONCOGENE HOMOLOGC0812252
CRKC0812252
ONCOGENE CRKC0812252
CRKIIC0812252
V-CRK AVIAN SARCOMA VIRUS CT10 ONCOGENE HOMOLOG-LIKEC0812253
CRKLC0812253
ONCOGENE CRKLC0812253
HLR2C0812257
ONCOGENE RCKC0812257
DDX6C0812257
p54C0812257
DEAD/H BOX 6C0812257
HELICASE, RNA, NUCLEAR 2C0812257
RNA HELICASE, 54-KDC0812257
TRANSCRIPTION FACTOR E2FC0812258
E2F TRANSCRIPTION FACTOR 1C0812258
E2F1C0812258
NUCLEAR RECEPTOR COACTIVATOR 4C0812260
ARA70C0812260
ELE1C0812260
NCOA4C0812260
ANDROGEN RECEPTOR COACTIVATOR, 70-KDC0812260
RET-ACTIVATING GENE ELE1C0812260
CORTACTINC0812261
EMS1C0812261
ONCOGENE EMS1C0812261
EPHTC0812262
EPHT1C0812262
RECEPTOR TYROSINE KINASE EPHC0812262
EPH TYROSINE KINASE 1C0812262
EPHRIN RECEPTOR EphA1C0812262
EPHA1C0812262
EPH TYROSINE KINASE/ERYTHROPOIETIN-PRODUCING HEPATOMA AMPLIFIED SEQUENCEC0812262
 
home
<< Browsing of OMIM terms >>