| 100050 |
AARSKOG SYNDROME, AUTOSOMAL DOMINANT |
| 100070 |
AORTIC ANEURYSM, FAMILIAL ABDOMINAL, 1; AAA1 |
| 100100 |
ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND CRYPTORCHIDISM |
| 100200 |
ABDUCENS PALSY |
| 100300 |
ADAMS-OLIVER SYNDROME 1; AOS1 |
| 100600 |
ACANTHOSIS NIGRICANS |
| 100675 |
ACETAMINOPHEN METABOLISM |
| 100700 |
ACHARD SYNDROME |
| 100800 |
ACHONDROPLASIA; ACH |
| 101000 |
NEUROFIBROMATOSIS, TYPE II; NF2 |
| 101120 |
ACROCEPHALOPOLYSYNDACTYLY TYPE III |
| 101200 |
APERT SYNDROME |
| 101400 |
SAETHRE-CHOTZEN SYNDROME; SCS |
| 101600 |
PFEIFFER SYNDROME |
| 101800 |
ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1 |
| 101840 |
ACROKERATODERMA, HEREDITARY PAPULOTRANSLUCENT |
| 101850 |
KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE III; PPKP3 |
| 101900 |
ACROKERATOSIS VERRUCIFORMIS; AKV |
| 102000 |
ACROLEUKOPATHY, SYMMETRIC |
| 102100 |
ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA |
| 102150 |
ACROMEGALOID FACIAL APPEARANCE SYNDROME |
| 102200 |
PITUITARY ADENOMA, GROWTH HORMONE-SECRETING |
| 102300 |
RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1; RLS1 |
| 102350 |
ACROMIAL DIMPLES |
| 102370 |
ACROMICRIC DYSPLASIA; ACMICD |
| 102400 |
ACROOSTEOLYSIS |
| 102500 |
HAJDU-CHENEY SYNDROME; HJCYS |
| 102510 |
ACROPECTOROVERTEBRAL DYSPLASIA; ACRPV |
| 102520 |
ACRORENAL SYNDROME |
| 102530 |
SPERMATOGENIC FAILURE 6; SPGF6 |
| 102650 |
ADACTYLIA, UNILATERAL |
| 102660 |
ADAMANTINOMA OF LONG BONES |
| 102700 |
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY |
| 102730 |
ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO |
| 102800 |
ADENOSINE TRIPHOSPHATASE DEFICIENCY, ANEMIA DUE TO |
| 102900 |
ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES |
| 103050 |
ADENYLOSUCCINASE DEFICIENCY |
| 103100 |
ADIE PUPIL |
| 103200 |
ADIPOSIS DOLOROSA |
| 103230 |
ADRENOCORTICAL HYPOFUNCTION, CHRONIC PRIMARY CONGENITAL |
| 103285 |
ADULT SYNDROME |
| 103300 |
HYPOGLOSSIA-HYPODACTYLIA |
| 103400 |
AINHUM |
| 103420 |
ALACRIMA, CONGENITAL |
| 103470 |
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS |
| 103500 |
TIETZ SYNDROME |
| 103580 |
PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A |
| 103900 |
GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM; GRA |
| 103920 |
ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS, FAMILIAL |
| 104000 |
ALOPECIA AREATA 1 |
| 104100 |
PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA, AUTOSOMAL DOMINANT |
| 104110 |
ALOPECIA, FAMILIAL FOCAL |
| 104130 |
ALOPECIA, PSYCHOMOTOR EPILEPSY, PYORRHEA, AND MENTAL SUBNORMALITY |
| 104200 |
ALPORT SYNDROME, AUTOSOMAL DOMINANT |
| 104290 |
ALTERNATING HEMIPLEGIA OF CHILDHOOD |
| 104300 |
ALZHEIMER DISEASE; AD |
| 104310 |
ALZHEIMER DISEASE 2 |
| 104350 |
AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM |
| 104400 |
AMELIA AND TERMINAL TRANSVERSE HEMIMELIA |
| 104500 |
AMELOGENESIS IMPERFECTA, TYPE IB; AI1B |
| 104510 |
AMELOGENESIS IMPERFECTA, TYPE IV; AI4 |
| 104530 |
AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE MICRODONTIA, GENERALIZED, INCLUDED |
| 104570 |
AMELOONYCHOHYPOHIDROTIC SYNDROME |
| 104600 |
AMENORRHEA-GALACTORRHEA SYNDROME |
| 105120 |
AMYLOIDOSIS, FINNISH TYPE |
| 105150 |
CEREBRAL AMYLOID ANGIOPATHY, CST3-RELATED |
| 105200 |
AMYLOIDOSIS, FAMILIAL VISCERAL |
| 105210 |
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED |
| 105250 |
AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1; PLCA1 |
| 105300 |
AMYOTROPHIC DYSTONIC PARAPLEGIA |
| 105400 |
AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1 |
| 105500 |
AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 |
| 105550 |
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS; FTDALS |
| 105563 |
ANAL SPHINCTER DYSPLASIA; ASDP |
| 105565 |
ANAL SPHINCTER MYOPATHY, INTERNAL |
| 105580 |
ANAL CANAL CARCINOMA CLOACOGENIC CARCINOMA, INCLUDED |
| 105600 |
ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE III; CDAN3 |
| 105650 |
DIAMOND-BLACKFAN ANEMIA; DBA |
| 105800 |
ANEURYSM, INTRACRANIAL BERRY, 1; ANIB1 |
| 105805 |
ANEURYSM OF INTERVENTRICULAR SEPTUM |
| 105830 |
ANGELMAN SYNDROME; AS |
| 105835 |
ANGEL-SHAPED PHALANGOEPIPHYSEAL DYSPLASIA; ASPED |
| 106050 |
ANGIOMA SERPIGINOSUM, AUTOSOMAL DOMINANT |
| 106070 |
ANGIOMA, HEREDITARY NEUROCUTANEOUS SPINAL ARTERIAL VENOUS MALFORMATIONS WITH CUTANEOUS HEMANGIOMAS, INCLUDED |
| 106100 |
ANGIOEDEMA, HEREDITARY, TYPE I; HAE1 |
| 106190 |
ANHIDROSIS, FAMILIAL GENERALIZED, WITH NORMAL SWEAT GLANDS |
| 106210 |
ANIRIDIA; AN |
| 106220 |
ANIRIDIA AND ABSENT PATELLA |
| 106230 |
ANIRIDIA, MICROCORNEA, AND SPONTANEOUSLY REABSORBED CATARACT |
| 106240 |
ANISOCORIA |
| 106250 |
ANKYLOBLEPHARON FILIFORME ADNATUM AND CLEFT PALATE; AFA |
| 106260 |
ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE |
| 106280 |
ANKYLOGLOSSIA |
| 106300 |
SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1 |
| 106400 |
ANKYLOSING VERTEBRAL HYPEROSTOSIS WITH TYLOSIS DIFFUSE IDIOPATHIC SKELETAL HYPEROSTOSIS, INCLUDED; DISH, INCLUDED |
| 106500 |
ANNULAR ERYTHEMA |
| 106600 |
TOOTH AGENESIS, SELECTIVE, 1; STHAG1 |
| 106700 |
TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1; TAPVR1 |
| 106750 |
ANONYCHIA WITH FLEXURAL PIGMENTATION |
| 106900 |
ANONYCHIA-ECTRODACTYLY |
| 106990 |
ANONYCHIA-ONYCHODYSTROPHY WITH BRACHYDACTYLY TYPE B AND ECTRODACTYLY |
| 106995 |
ANONYCHIA-ONYCHODYSTROPHY WITH HYPOPLASIA OR ABSENCE OF DISTAL PHALANGES |
| 107000 |
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 6; NDNC6 |
| 107100 |
ANORECTAL ANOMALIES |
| 107200 |
ANOSMIA, ISOLATED CONGENITAL; ANIC |
| 107250 |
ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS; ASMD |
| 107320 |
ANTIPHOSPHOLIPID SYNDROME, FAMILIAL |
| 107480 |
TOWNES-BROCKS SYNDROME; TBS |
| 107500 |
AORTIC ARCH ANOMALY WITH PECULIAR FACIES AND MENTAL RETARDATION |
| 107550 |
AORTIC ARCH INTERRUPTION, FACIAL PALSY, AND RETINAL COLOBOMA |
| 107600 |
APLASIA CUTIS CONGENITA, NONSYNDROMIC; ACC |
| 107640 |
APNEA, CENTRAL SLEEP |
| 107650 |
APNEA, OBSTRUCTIVE SLEEP |
| 107700 |
APPENDICITIS, PRONENESS TO |
| 107900 |
ARMS, MALFORMATION OF |
| 107970 |
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1 |
| 108000 |
ARTERIES, ANOMALIES OF |
| 108010 |
ARTERIOVENOUS MALFORMATIONS OF THE BRAIN |
| 108050 |
ARTERITIS, FAMILIAL GRANULOMATOUS, WITH JUVENILE POLYARTHRITIS |
| 108100 |
ARTHRITIS, SACROILIAC |
| 108110 |
ARTHROGRYPOSIS MULTIPLEX CONGENITA; AMC |
| 108120 |
ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A |
| 108145 |
ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5 |
| 108200 |
ARTHROGRYPOSIS, DISTAL, TYPE 6; DA6 |
| 108300 |
STICKLER SYNDROME, TYPE I; STL1 |
| 108320 |
ARTICHOKE, MODIFICATION OF TASTE BY |
| 108450 |
ASYMMETRIC SHORT STATURE SYNDROME |
| 108500 |
EPISODIC ATAXIA, TYPE 2; EA2 |
| 108600 |
SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1 |
| 108650 |
SPASTIC ATAXIA 7, AUTOSOMAL DOMINANT; SPAX7 |
| 108700 |
ATAXIA WITH FASCICULATIONS |
| 108720 |
ATELOSTEOGENESIS, TYPE I; AOI |
| 108721 |
ATELOSTEOGENESIS, TYPE III; AOIII |
| 108725 |
ATHEROSCLEROSIS SUSCEPTIBILITY; ATHS |
| 108760 |
ATRESIA OF EXTERNAL AUDITORY CANAL AND CONDUCTIVE DEAFNESS |
| 108770 |
ATRIAL STANDSTILL |
| 108800 |
ATRIAL SEPTAL DEFECT 1; ASD1 ATRIAL SEPTAL DEFECT, PRIMUM TYPE, INCLUDED |
| 108900 |
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS; ASD7 |
| 108950 |
ATRIAL TACHYARRHYTHMIA WITH SHORT PR INTERVAL |
| 108985 |
SVEINSSON CHORIORETINAL ATROPHY; SCRA |
| 109000 |
AURICULOOSTEODYSPLASIA |
| 109050 |
AUROCEPHALOSYNDACTYLY |
| 109100 |
AUTOIMMUNE DISEASE |
| 109120 |
AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES |
| 109130 |
AXIAL OSTEOMALACIA |
| 109150 |
MACHADO-JOSEPH DISEASE; MJD |
| 109160 |
AZOTEMIA, FAMILIAL |
| 109200 |
ALOPECIA, ANDROGENETIC, 1; AGA1 |
| 109300 |
BANKI SYNDROME |
| 109350 |
GASTROESOPHAGEAL REFLUX; GER |
| 109400 |
BASAL CELL NEVUS SYNDROME; BCNS |
| 109500 |
BASILAR IMPRESSION, PRIMARY |
| 109543 |
LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 2 |
| 109650 |
BEHCET SYNDROME |
| 109720 |
BILIARY CIRRHOSIS, PRIMARY, 1; PBC1 |
| 109730 |
AORTIC VALVE DISEASE |
| 109740 |
BIFID NOSE, AUTOSOMAL DOMINANT |
| 109800 |
BLADDER CANCER |
| 109820 |
BLADDER DIVERTICULUM |
| 109900 |
BLEPHAROCHALASIS AND DOUBLE LIP |
| 110000 |
BLEPHAROCHALASIS, SUPERIOR |
| 110050 |
BLEPHARONASOFACIAL MALFORMATION SYNDROME |
| 110100 |
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES BPES, TYPE I, INCLUDED |
| 110150 |
BLEPHAROPTOSIS, MYOPIA, AND ECTOPIA LENTIS |
| 110700 |
BLOOD GROUP, DUFFY SYSTEM; FY |
| 112200 |
BLUE RUBBER BLEB NEVUS |
| 112240 |
BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS, AND DISTINCTIVE FACIAL FEATURES |
| 112250 |
DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA; DMSMFH |
| 112270 |
BONE PAIN, PERIODIC |
| 112300 |
BOOK SYNDROME |
| 112310 |
BOOMERANG DYSPLASIA |
| 112350 |
BOWING OF LEGS, ANTERIOR, WITH DWARFISM |
| 112370 |
BRACHMANN-DE LANGE-LIKE FACIAL CHANGES WITH MICROCEPHALY, METATARSUS ADDUCTUS, AND DEVELOPMENTAL DELAY |
| 112410 |
HYPERTENSION WITH BRACHYDACTYLY |
| 112430 |
LONG-THUMB BRACHYDACTYLY SYNDROME |
| 112440 |
BRACHYDACTYLY, COMBINED B AND E TYPES |
| 112450 |
BRACHYDACTYLY, PREAXIAL, WITH HALLUX VARUS AND THUMB ABDUCTION |
| 112500 |
BRACHYDACTYLY, TYPE A1; BDA1 |
| 112600 |
BRACHYDACTYLY, TYPE A2; BDA2 |
| 112700 |
BRACHYDACTYLY, TYPE A3; BDA3 |
| 112800 |
BRACHYDACTYLY, TYPE A4; BDA4 |
| 112900 |
BRACHYDACTYLY, TYPE A5, WITH NAIL DYSPLASIA |
| 112910 |
BRACHYDACTYLY, TYPE A6; BDA6 |
| 113000 |
BRACHYDACTYLY, TYPE B1; BDB1 |
| 113100 |
BRACHYDACTYLY, TYPE C; BDC |
| 113200 |
BRACHYDACTYLY, TYPE D; BDD |
| 113300 |
BRACHYDACTYLY, TYPE E1; BDE1 |
| 113301 |
BRACHYDACTYLY, TYPE E, WITH ATRIAL SEPTAL DEFECT, TYPE II |
| 113310 |
BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA |
| 113400 |
BRACHYDACTYLY-NYSTAGMUS-CEREBELLAR ATAXIA |
| 113450 |
BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME |
| 113470 |
BRACHYMESOMELIA-RENAL SYNDROME |
| 113475 |
BRACHYMETATARSUS IV |
| 113477 |
BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME |
| 113480 |
BRACHYTELEPHALANGY WITH CHARACTERISTIC FACIES AND KALLMANN SYNDROME |
| 113500 |
BRACHYOLMIA TYPE 3 |
| 113600 |
BRANCHIAL CLEFT ANOMALIES BRANCHIAL CYSTS, INCLUDED |
| 113610 |
BRANCHIAL MYOCLONUS WITH SPASTIC PARAPARESIS AND CEREBELLAR ATAXIA |
| 113620 |
BRANCHIOOCULOFACIAL SYNDROME; BOFS |
| 113650 |
BRANCHIOOTORENAL SYNDROME 1; BOR1 |
| 113670 |
HYPERTROPHY OF THE BREAST, JUVENILE; JHB |
| 113700 |
BREASTS AND NIPPLES, ABSENCE OF |
| 113750 |
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 4; SHEP4 |
| 113800 |
EPIDERMOLYTIC HYPERKERATOSIS; EHK |
| 113900 |
PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A |
| 113950 |
BUNDLE BRANCH BLOCK, FAMILIAL ISOLATED COMPLETE RIGHT |
| 113970 |
BURKITT LYMPHOMA; BL |
| 114000 |
CAFFEY DISEASE |
| 114030 |
CAFE-AU-LAIT SPOTS, MULTIPLE |
| 114065 |
CALCIFIC AORTIC DISEASE WITH IMMUNOLOGIC ABNORMALITIES, FAMILIAL |
| 114100 |
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET |
| 114140 |
CALLOSITIES, HEREDITARY PAINFUL |
| 114150 |
CAMPTOBRACHYDACTYLY |
| 114200 |
CAMPTODACTYLY 1; CAMPD1 |
| 114290 |
CAMPOMELIC DYSPLASIA |
| 114300 |
ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3 |
| 114450 |
CANCER, FAMILIAL, WITH IN VITRO RADIORESISTANCE |
| 114480 |
BREAST CANCER |
| 114500 |
COLORECTAL CANCER; CRC |
| 114550 |
HEPATOCELLULAR CARCINOMA |
| 114580 |
CANDIDIASIS, FAMILIAL, 1; CANDF1 |
| 114600 |
CANINE TEETH, ABSENCE OF UPPER PERMANENT |
| 114620 |
CRANIOFACIOFRONTODIGITAL SYNDROME |
| 114650 |
CAR FACTOR DEFICIENCY |
| 114700 |
CARABELLI ANOMALY OF MAXILLARY MOLAR TEETH |
| 114900 |
CARCINOID TUMORS, INTESTINAL |
| 115000 |
CARDIAC ARRHYTHMIA |
| 115080 |
CARDIAC CONDUCTION DEFECT SUDDEN CARDIAC DEATH, INCLUDED; SCD, INCLUDED |
| 115150 |
CARDIOFACIOCUTANEOUS SYNDROME |
| 115195 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2 |
| 115196 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3; CMH3 |
| 115197 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4, SUSCEPTIBILITY TO, INCLUDED |
| 115200 |
CARDIOMYOPATHY, DILATED, 1A; CMD1A |
| 115210 |
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1 |
| 115250 |
COLLAGENOMA, FAMILIAL CUTANEOUS |
| 115300 |
HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT CAROTENOIDS, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 1, INCLUDED |
| 115310 |
PARAGANGLIOMAS 4; PGL4 |
| 115430 |
CARPAL TUNNEL SYNDROME; CTS1 |
| 115470 |
CAT EYE SYNDROME; CES |
| 115645 |
CATARACT, ABERRANT ORAL FRENULA, AND GROWTH RETARDATION |
| 115650 |
CATARACT, ANTERIOR POLAR, 1; CTAA1 |
| 115660 |
CATARACT, CONGENITAL, CERULEAN TYPE, 1; CCA1 |
| 115665 |
CATARACT, CONGENITAL, VOLKMANN TYPE; CCV |
| 115700 |
CATARACT, CRYSTALLINE ACULEIFORM |
| 115800 |
CATARACT, CRYSTALLINE CORALLIFORM |
| 115900 |
CATARACT, FLORIFORM |
| 116100 |
CATARACT, MEMBRANOUS |
| 116150 |
CATARACT-MICROCORNEA SYNDROME |
| 116200 |
CATARACT, ZONULAR PULVERULENT 1; CZP1 |
| 116300 |
CATARACT, NUCLEAR DIFFUSE NONPROGRESSIVE |
| 116400 |
CATARACT, NUCLEAR TOTAL |
| 116600 |
CATARACT, POSTERIOR POLAR, 1; CTPP1 |
| 116700 |
CATARACT, TOTAL CONGENITAL; CC |
| 116800 |
CATARACT, LAMELLAR |
| 116850 |
CATATRICHY |
| 116860 |
CEREBRAL CAVERNOUS MALFORMATIONS; CCM |
| 116870 |
CELIAC ARTERY STENOSIS FROM COMPRESSION BY MEDIAN ARCUATE LIGAMENT OF DIAPHRAGM |
| 116920 |
LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD |
| 117000 |
CENTRAL CORE DISEASE OF MUSCLE |
| 117100 |
CENTRALOPATHIC EPILEPSY |
| 117210 |
SPINOCEREBELLAR ATAXIA 31; SCA31 |
| 117300 |
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2 |
| 117360 |
SPINOCEREBELLAR ATAXIA 29; SCA29 |
| 117550 |
SOTOS SYNDROME 1; SOTOS1 |
| 117600 |
CEREBRAL SARCOMA |
| 117650 |
CEREBROCOSTOMANDIBULAR SYNDROME |
| 117800 |
APOCRINE GLAND SECRETION, VARIATION IN |
| 117850 |
CERVICAL HYPERTRICHOSIS WITH UNDERLYING KYPHOSCOLIOSIS |
| 117900 |
CERVICAL RIB |
| 118000 |
CERVICAL VERTEBRAL BRIDGE |
| 118005 |
CERVICAL VERTEBRAL DYSPLASIA |
| 118100 |
KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 |
| 118200 |
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B |
| 118210 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1 |
| 118220 |
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A |
| 118230 |
CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE |
| 118300 |
CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS |
| 118301 |
CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM |
| 118330 |
CHEILITIS GLANDULARIS |
| 118350 |
CHEMODECTOMA, INTRAABDOMINAL, WITH CUTANEOUS ANGIOLIPOMAS |
| 118400 |
CHERUBISM |
| 118420 |
CHIARI MALFORMATION TYPE I |
| 118430 |
CHLORPROPAMIDE-ALCOHOL FLUSHING; CPAF |
| 118450 |
ALAGILLE SYNDROME 1; ALGS1 |
| 118600 |
CHONDROCALCINOSIS 2; CCAL2 |
| 118610 |
CHONDROCALCINOSIS DUE TO APATITE CRYSTAL DEPOSITION |
| 118650 |
CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANT CHONDRODYSPLASIA PUNCTATA DUE TO VITAMIN K DEFICIENCY, INCLUDED |
| 118651 |
CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE |
| 118700 |
CHOREA, BENIGN HEREDITARY; BHC |
| 118750 |
CHOREOATHETOSIS, FAMILIAL INVERTED |
| 118800 |
PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1 |
| 118830 |
CHYLOMICRONEMIA, FAMILIAL, DUE TO CIRCULATING INHIBITOR OF LIPOPROTEIN LIPASE |
| 118865 |
CHOROIDAL OSTEOMA, BILATERAL |
| 118900 |
CIRRHOSIS, FAMILIAL |
| 118980 |
CLAVICLE, PSEUDARTHROSIS OF, CONGENITAL |
| 119000 |
CLEFT CHIN |
| 119100 |
SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1; SHFLD1 |
| 119300 |
VAN DER WOUDE SYNDROME 1; VWS1 |
| 119500 |
POPLITEAL PTERYGIUM SYNDROME; PPS |
| 119530 |
OROFACIAL CLEFT 1; OFC1 |
| 119540 |
CLEFT PALATE, ISOLATED; CPI |
| 119550 |
SYNGNATHIA |
| 119570 |
CLEFT SOFT PALATE |
| 119580 |
BLEPHAROCHEILODONTIC SYNDROME |
| 119600 |
CLEIDOCRANIAL DYSPLASIA; CCD |
| 119650 |
CLEIDORHIZOMELIC SYNDROME |
| 119800 |
CLUBFOOT, CONGENITAL; CCF |
| 119900 |
DIGITAL CLUBBING, ISOLATED CONGENITAL |
| 119915 |
CLUSTER HEADACHE, FAMILIAL |
| 120000 |
COARCTATION OF AORTA |
| 120040 |
COCHLEOSACCULAR DEGENERATION WITH PROGRESSIVE CATARACTS |
| 120100 |
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1 |
| 120200 |
COLOBOMA, OCULAR |
| 120300 |
COLOBOMA OF MACULA |
| 120330 |
PAPILLORENAL SYNDROME |
| 120400 |
COLOBOMA OF MACULA WITH TYPE B BRACHYDACTYLY |
| 120430 |
COLOBOMA OF OPTIC NERVE OPTIC NERVE HEAD PITS, BILATERAL CONGENITAL, INCLUDED |
| 120435 |
LYNCH SYNDROME I |
| 120440 |
COLONIC VARICES WITHOUT PORTAL HYPERTENSION |
| 120450 |
COMEDONES, FAMILIAL DYSKERATOTIC |
| 120500 |
COMMISSURAL LIP PITS |
| 120502 |
BRANCHIOOTIC SYNDROME 2 |
| 120790 |
COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF |
| 120970 |
CONE-ROD DYSTROPHY 2; CORD2 |
| 121050 |
ARTHROGRYPOSIS, DISTAL, TYPE 9; DA9 |
| 121070 |
ARTHROGRYPOSIS, DISTAL, TYPE 2E |
| 121200 |
SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1 EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED |
| 121201 |
SEIZURES, BENIGN FAMILIAL NEONATAL, 2; BFNS2 |
| 121210 |
FEBRILE SEIZURES, FAMILIAL, 1; FEB1 |
| 121270 |
COPPER DEFICIENCY, FAMILIAL BENIGN |
| 121300 |
COPROPORPHYRIA, HEREDITARY; HCP |
| 121350 |
CORACOCLAVICULAR JOINT, ANOMALOUS |
| 121390 |
CORNEA GUTTATA WITH ANTERIOR POLAR CATARACTS |
| 121400 |
CORNEA PLANA 1; CNA1 |
| 121450 |
CORNEAL DEGENERATION, RIBBONLIKE, WITH DEAFNESS |
| 121700 |
CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT; CHED1 |
| 121800 |
CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER |
| 121820 |
CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE; EBMD |
| 121850 |
CORNEAL DYSTROPHY, FLECK |
| 121900 |
CORNEAL DYSTROPHY, GROENOUW TYPE I; CDGG1 |
| 122000 |
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1; PPCD1 |
| 122100 |
CORNEAL DYSTROPHY, MEESMANN; MECD |
| 122200 |
CORNEAL DYSTROPHY, LATTICE TYPE I; LCD1 |
| 122400 |
EPITHELIAL RECURRENT EROSION DYSTROPHY; ERED |
| 122430 |
CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS, UNUSUAL FACIES, PERSISTENT DUCTUS ARTERIOSUS, AND MENTAL RETARDATION |
| 122440 |
CORNEODERMATOOSSEOUS SYNDROME |
| 122450 |
CORNEAL HYPESTHESIA, FAMILIAL |
| 122455 |
CORONARY ARTERY DISSECTION, SPONTANEOUS |
| 122460 |
HUMAN CORONAVIRUS SENSITIVITY; HCVS |
| 122470 |
CORNELIA DE LANGE SYNDROME 1; CDLS1 |
| 122580 |
COSTOCORACOID LIGAMENT, CONGENITALLY SHORT |
| 122600 |
SPONDYLOCOSTAL DYSOSTOSIS 5, AUTOSOMAL DOMINANT; SCDO5 |
| 122750 |
COXA VARA |
| 122780 |
COXOAURICULAR SYNDROME |
| 122850 |
CRANIOACROFACIAL SYNDROME |
| 122860 |
CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CDD |
| 122880 |
CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS |
| 122900 |
CRANIOFACIAL DYSOSTOSIS WITH DIAPHYSEAL HYPERPLASIA |
| 123000 |
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD |
| 123050 |
CRANIORHINY |
| 123100 |
CRANIOSYNOSTOSIS, TYPE 1; CRS1 |
| 123150 |
JACKSON-WEISS SYNDROME; JWS |
| 123155 |
HYDROCEPHALUS |
| 123320 |
CREATINE PHOSPHOKINASE, ELEVATED SERUM |
| 123400 |
CREUTZFELDT-JAKOB DISEASE; CJD |
| 123450 |
CRI-DU-CHAT SYNDROME |
| 123500 |
CROUZON SYNDROME |
| 123540 |
CRYOFIBRINOGENEMIA, FAMILIAL PRIMARY |
| 123550 |
CRYOGLOBULINEMIA, FAMILIAL MIXED |
| 123557 |
CRYPTOTIA, FAMILIAL |
| 123560 |
CRYPTOMICROTIA-BRACHYDACTYLY SYNDROME |
| 123570 |
CRYPTOPHTHALMOS, UNILATERAL OR BILATERAL, ISOLATED |
| 123700 |
CUTIS LAXA, AUTOSOMAL DOMINANT 1; ADCL1 |
| 123790 |
BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS |
| 124000 |
MITOCHONDRIAL COMPLEX III DEFICIENCY |
| 124100 |
DANUBIAN ENDEMIC FAMILIAL NEPHROPATHY |
| 124200 |
DARIER-WHITE DISEASE; DAR |
| 124300 |
DARWINIAN TUBERCLE OF PINNA |
| 124400 |
DARWINIAN TUBERCLE OF PINNA |
| 124480 |
DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT |
| 124490 |
DEAFNESS, CONDUCTIVE STAPEDIAL, WITH EAR MALFORMATION AND FACIAL PALSY |
| 124500 |
DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF FINGERS AND TOES |
| 124700 |
DEAFNESS, MID-TONE NEURAL |
| 124900 |
DEAFNESS, AUTOSOMAL DOMINANT 1; DFNA1 |
| 124950 |
DEAFNESS, SENSORINEURAL, WITH PERIPHERAL NEUROPATHY AND ARTERIAL DISEASE |
| 125000 |
DEAFNESS, UNILATERAL |
| 125050 |
DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA |
| 125230 |
DEAFNESS-CRANIOFACIAL SYNDROME |
| 125250 |
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY |
| 125260 |
DEFECTIVE INTERFERING PARTICLE INDUCTION, CONTROL OF |
| 125280 |
DENS EVAGINATUS |
| 125300 |
DENS IN DENTE AND PALATAL INVAGINATIONS |
| 125310 |
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY; CADASIL |
| 125320 |
DEMENTIA/PARKINSONISM WITH NON-ALZHEIMER AMYLOID PLAQUES |
| 125350 |
FAILURE OF TOOTH ERUPTION, PRIMARY; PFE |
| 125370 |
DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA |
| 125400 |
DENTIN DYSPLASIA, TYPE I; DTDP1 |
| 125420 |
DENTIN DYSPLASIA, TYPE II |
| 125440 |
DENTIN DYSPLASIA WITH SCLEROTIC BONES |
| 125480 |
MAJOR AFFECTIVE DISORDER 1; MAFD1 |
| 125490 |
DENTINOGENESIS IMPERFECTA 1; DGI1 |
| 125500 |
DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III |
| 125520 |
CAYLER CARDIOFACIAL SYNDROME |
| 125530 |
DERMAL RIDGES, NELSON SYNDROME |
| 125540 |
DERMAL RIDGES, PATTERNLESS |
| 125550 |
DERMAL RIDGES-OFF-THE-END; ROES |
| 125570 |
DERMATOGLYPHICS--ARCH ON ANY DIGIT |
| 125590 |
DERMATOGLYPHICS--FINGERPRINT PATTERN |
| 125595 |
DERMATOPATHIA PIGMENTOSA RETICULARIS; DPR |
| 125600 |
DERMATOSIS PAPULOSA NIGRA |
| 125630 |
DERMODISTORTIVE URTICARIA; DDU |
| 125635 |
DERMOGRAPHISM, FAMILIAL |
| 125640 |
DERMOODONTODYSPLASIA |
| 125700 |
DIABETES INSIPIDUS, NEUROHYPOPHYSEAL |
| 125800 |
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL |
| 125850 |
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1; MODY1 |
| 125851 |
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; MODY2 |
| 125852 |
DIABETES MELLITUS, INSULIN-DEPENDENT, 2 |
| 125853 |
DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM |
| 125900 |
DIASTEMA, DENTAL MEDIAL |
| 126050 |
DIGITOTALAR DYSMORPHISM |
| 126070 |
DILUTION, PIGMENTARY |
| 126100 |
DIMPLES, FACIAL |
| 126190 |
DISPROPORTIONATE SHORT STATURE WITH PTOSIS AND VALVULAR HEART LESIONS |
| 126200 |
MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS |
| 126250 |
DISTAL OSTEOSCLEROSIS |
| 126300 |
DISTICHIASIS |
| 126320 |
DISTICHIASIS WITH CONGENITAL ANOMALIES OF THE HEART AND PERIPHERAL VASCULATURE |
| 126600 |
DOYNE HONEYCOMB RETINAL DYSTROPHY; DHRD |
| 126700 |
BASAL LAMINAR DRUSEN |
| 126800 |
DUANE RETRACTION SYNDROME 1; DURS1 |
| 126840 |
DUODENAL ULCER DUE TO ANTRAL G-CELL HYPERFUNCTION |
| 126850 |
DUODENAL ULCER, HYPERPEPSINOGENEMIC I |
| 126900 |
DUPUYTREN CONTRACTURE DUPUYTREN CONTRACTURE 1, INCLUDED; DUPC1, INCLUDED |
| 126950 |
DWARFISM WITH TALL VERTEBRAE |
| 127000 |
KENNY-CAFFEY SYNDROME, TYPE 2 |
| 127100 |
DWARFISM, LEVI TYPE |
| 127200 |
DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIES |
| 127300 |
LERI-WEILL DYSCHONDROSTEOSIS; LWD |
| 127350 |
DYSCHONDROSTEOSIS AND NEPHRITIS |
| 127400 |
DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1 |
| 127500 |
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1; DUH1 |
| 127550 |
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; DKCA1 |
| 127600 |
DYSKERATOSIS, HEREDITARY BENIGN INTRAEPITHELIAL |
| 127700 |
DYSLEXIA, SUSCEPTIBILITY TO, 1; DYX1 |
| 127750 |
DEMENTIA, LEWY BODY; DLB |
| 127800 |
DYSPLASIA EPIPHYSEALIS HEMIMELICA |
| 127820 |
DYSPLASIA EPIPHYSEALIS HEMIMELICA WITH CHONDROMAS AND OSTEOCHONDROMAS |
| 128000 |
DYSTELEPHALANGY |
| 128100 |
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT; DYT1 |
| 128101 |
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT; DYT4 |
| 128200 |
EPISODIC KINESIGENIC DYSKINESIA 1; EKD1 |
| 128230 |
DYSTONIA, DOPA-RESPONSIVE; DRD |
| 128235 |
DYSTONIA 12; DYT12 |
| 128290 |
EAR ANTITRAGUS, TAG AT BASE OF |
| 128300 |
EAR EXOSTOSES |
| 128400 |
EAR FLARE |
| 128500 |
EAR FOLDING |
| 128600 |
EAR MALFORMATION |
| 128700 |
PREAURICULAR FISTULAE, CONGENITAL |
| 128710 |
EAR PITS, POSTERIOR HELICAL |
| 128800 |
EAR WITHOUT HELIX |
| 128900 |
EARLOBE ATTACHMENT, ATTACHED VS UNATTACHED |
| 128950 |
EARLOBE CREASE |
| 128980 |
EARLOBES, THICKENED, WITH CONDUCTIVE DEAFNESS FROM INCUDOSTAPEDIAL ABNORMALITIES |
| 129000 |
EARRING HOLES, NATURAL |
| 129100 |
EARS, ABILITY TO MOVE |
| 129150 |
ECHO VIRUS 11 SENSITIVITY; E11S |
| 129200 |
ADERMATOGLYPHIA WITH CONGENITAL FACIAL MILIA AND ACRAL BLISTERS, DIGITAL CONTRACTURES, AND NAIL ABNORMALITIES |
| 129400 |
RAPP-HODGKIN SYNDROME; RHS |
| 129490 |
ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT; HED |
| 129500 |
ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT |
| 129510 |
ECTODERMAL DYSPLASIA, TRICHOODONTOONYCHIAL TYPE |
| 129540 |
ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE AND PREAXIAL POLYDACTYLY OF FEET |
| 129550 |
ECTODERMAL DYSPLASIA WITH ADRENAL CYST |
| 129600 |
ECTOPIA LENTIS, ISOLATED, AUTOSOMAL DOMINANT; ECTOL1 |
| 129750 |
ECTOPIA PUPILLAE |
| 129810 |
ECTRODACTYLY AND ECTODERMAL DYSPLASIA WITHOUT CLEFT LIP/PALATE |
| 129830 |
ECTRODACTYLY-CLEFT PALATE SYNDROME |
| 129840 |
EDEMA, FAMILIAL IDIOPATHIC, PREPUBERTAL |
| 129850 |
EDINBURGH MALFORMATION SYNDROME |
| 129900 |
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1 |
| 130000 |
EHLERS-DANLOS SYNDROME, TYPE I |
| 130010 |
EHLERS-DANLOS SYNDROME, TYPE II |
| 130020 |
EHLERS-DANLOS SYNDROME, TYPE III |
| 130050 |
EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT |
| 130060 |
EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT |
| 130070 |
EHLERS-DANLOS SYNDROME, PROGEROID FORM |
| 130080 |
EHLERS-DANLOS SYNDROME, TYPE VIII |
| 130090 |
EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED |
| 130100 |
ELASTOSIS PERFORANS SERPIGINOSA; EPS |
| 130180 |
ELECTROENCEPHALOGRAM, LOW-VOLTAGE |
| 130190 |
ELECTROENCEPHALOGRAPHIC PATTERN, BETA FREQUENCY, QUANTITATIVE TRAIT LOCUS; EEGBQTL |
| 130200 |
ELECTROENCEPHALOGRAPHIC PECULIARITY: 14 AND 6 PER SEC. POSITIVE SPIKE PHENOMENON |
| 130300 |
ELECTROENCEPHALOGRAPHIC PECULIARITY: FRONTO-PRECENTRAL BETA WAVE GROUPS |
| 130400 |
ELECTROENCEPHALOGRAPHIC PECULIARITY: OCCIPITAL SLOW BETA WAVES |
| 130600 |
ELLIPTOCYTOSIS 2; EL2 |
| 130650 |
BECKWITH-WIEDEMANN SYNDROME; BWS |
| 130700 |
EMPHYSEMA, HEREDITARY PULMONARY |
| 130710 |
EMPHYSEMA, CONGENITAL LOBAR; CLE |
| 130720 |
LATERAL MENINGOCELE SYNDROME |
| 130900 |
AMELOGENESIS IMPERFECTA, TYPE III; AI3 |
| 130950 |
ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD |
| 131100 |
MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1 |
| 131200 |
ENDOMETRIOSIS, SUSCEPTIBILITY TO, 1 |
| 131300 |
CAMURATI-ENGELMANN DISEASE; CAEND |
| 131400 |
EOSINOPHILIA, FAMILIAL |
| 131430 |
EOSINOPHILOPENIA |
| 131440 |
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA |
| 131445 |
EPENDYMOMA |
| 131450 |
EPIBLEPHARON OF LOWER LID |
| 131460 |
EPIBLEPHARON OF UPPER LID |
| 131500 |
EPICANTHUS |
| 131600 |
EPIDERMOID CYSTS |
| 131705 |
TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN; TBDN |
| 131750 |
EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT; DDEB |
| 131760 |
EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE |
| 131800 |
EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED |
| 131850 |
EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL |
| 131880 |
EPIDERMOLYSIS BULLOSA WITH DEFICIENCY OF GALACTOSYLHYDROXYLYSYL GLUCOSYLTRANSFERASE |
| 131900 |
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED |
| 131950 |
EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE |
| 131960 |
EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION; EBS-MP |
| 132000 |
EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS |
| 132090 |
EPILEPSY, BENIGN OCCIPITAL; BOE |
| 132100 |
PHOTOPAROXYSMAL RESPONSE; PPR |
| 132300 |
EPILEPSY, READING |
| 132400 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1 |
| 132450 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS |
| 132500 |
EPISTAXIS, HEREDITARY |
| 132600 |
PILOMATRIXOMA |
| 132700 |
CYLINDROMATOSIS, FAMILIAL |
| 132800 |
MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO; MSSE |
| 132900 |
AORTIC ANEURYSM, FAMILIAL THORACIC 4; AAT4 |
| 132990 |
ERYTHEMA NODOSUM, FAMILIAL |
| 133000 |
ERYTHEMA PALMARE HEREDITARIUM |
| 133020 |
ERYTHERMALGIA, PRIMARY |
| 133100 |
ERYTHROCYTOSIS, FAMILIAL, 1; ECYT1 |
| 133180 |
ERYTHROLEUKEMIA, FAMILIAL |
| 133190 |
SPINOCEREBELLAR ATAXIA 34; SCA34 |
| 133200 |
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA; EKVP |
| 133239 |
ESOPHAGEAL CANCER ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SUSCEPTIBILITY TO, INCLUDED |
| 133240 |
ESOPHAGEAL RING, LOWER |
| 133500 |
EXCHONDROSIS OF PINNA, POSTERIOR |
| 133540 |
COCKAYNE SYNDROME, TYPE B; CSB |
| 133690 |
EXOSTOSES WITH ANETODERMIA AND BRACHYDACTYLY, TYPE E |
| 133700 |
EXOSTOSES, MULTIPLE, TYPE I |
| 133701 |
EXOSTOSES, MULTIPLE, TYPE II |
| 133705 |
EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICAL TALUS |
| 133750 |
EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATION AND MICROCEPHALY |
| 133780 |
EXUDATIVE VITREORETINOPATHY 1; EVR1 |
| 133800 |
EYEBROW, WHORL IN |
| 133900 |
HEMIFACIAL HYPERPLASIA |
| 134000 |
FACIAL HYPERTRICHOSIS |
| 134200 |
FACIAL PALSY, FAMILIAL RECURRENT PERIPHERAL |
| 134300 |
FACIAL SPASM |
| 134400 |
FACTOR V EXCESS WITH SPONTANEOUS THROMBOSIS |
| 134430 |
FACTOR VII AND FACTOR VIII, COMBINED DEFICIENCY OF |
| 134500 |
FACTOR VIII DEFICIENCY |
| 134520 |
FACTORS VIII, IX AND XI, COMBINED DEFICIENCY OF |
| 134600 |
FANCONI RENOTUBULAR SYNDROME 1; FRTS1 |
| 134610 |
FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT |
| 134700 |
FAVISM, SUSCEPTIBILITY TO |
| 134750 |
FELTY SYNDROME |
| 134780 |
FEMORAL-FACIAL SYNDROME; FFS |
| 134900 |
FIBRINOLYTIC DEFECT |
| 135100 |
FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP |
| 135150 |
BIRT-HOGG-DUBE SYNDROME; BHD |
| 135290 |
DESMOID DISEASE, HEREDITARY |
| 135300 |
FIBROMATOSIS, GINGIVAL, 1; GINGF1 |
| 135400 |
HYPERTRICHOSIS TERMINALIS, GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA |
| 135500 |
ZIMMERMANN-LABAND SYNDROME; ZLS |
| 135550 |
FIBROMATOSIS, GINGIVAL, WITH PROGRESSIVE DEAFNESS |
| 135580 |
FIBROMUSCULAR DYSPLASIA OF ARTERIES |
| 135700 |
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1; CFEOM1 |
| 135750 |
LAURIN-SANDROW SYNDROME |
| 135800 |
FIBULA, RECURRENT DISLOCATION OF HEAD OF |
| 135900 |
COFFIN-SIRIS SYNDROME; CSS |
| 135950 |
FINGER LOCKING, RECURRENT, WITH INTRAUTERINE GROWTH RETARDATION AND PROPORTIONATE SHORT STATURE |
| 136000 |
ADERMATOGLYPHIA; ADERM |
| 136100 |
FINGERS, RELATIVE LENGTH OF |
| 136120 |
FISH-EYE DISEASE; FED |
| 136140 |
FLOATING-HARBOR SYNDROME; FLHS |
| 136200 |
FLUSHING OF EARS AND SOMNOLENCE |
| 136300 |
FLYNN-AIRD SYNDROME |
| 136400 |
FOCAL EPITHELIAL HYPERPLASIA OF THE ORAL MUCOSA |
| 136480 |
FOURTH CRANIAL NERVE PALSY, FAMILIAL CONGENITAL |
| 136500 |
BRAUER SYNDROME |
| 136520 |
FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME FOVEAL HYPOPLASIA, ISOLATED, INCLUDED |
| 136550 |
MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE; MCDR1 |
| 136600 |
FRIEDREICH ATAXIA, SO-CALLED, WITH OPTIC ATROPHY AND SENSORINEURAL DEAFNESS |
| 136680 |
FRASIER SYNDROME |
| 136760 |
FRONTONASAL DYSPLASIA 1; FND1 |
| 136800 |
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1; FECD1 |
| 136880 |
FUNDUS ALBIPUNCTATUS RETINITIS PUNCTATA ALBESCENS, INCLUDED |
| 136900 |
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY; SFD |
| 137000 |
FUTCHER LINE |
| 137040 |
GALLBLADDER, AGENESIS OF |
| 137050 |
GAMMA-A-GLOBULIN, DEFECT IN ASSEMBLY OF |
| 137100 |
IMMUNOGLOBULIN A DEFICIENCY 1; IGAD1 |
| 137130 |
GASTRIC SNEEZING |
| 137200 |
GAMSTORP-WOHLFART SYNDROME |
| 137210 |
GASTRIC VOLVULUS, INTRATHORACIC |
| 137215 |
GASTRIC CANCER, HEREDITARY DIFFUSE; HDGC |
| 137270 |
GASTROCUTANEOUS SYNDROME |
| 137280 |
GASTRITIS, FAMILIAL GIANT HYPERTROPHIC |
| 137370 |
GENU VALGUM, ST. HELENA FAMILIAL |
| 137400 |
GEOGRAPHIC TONGUE AND FISSURED TONGUE GLOSSITIS, BENIGN MIGRATORY, INCLUDED |
| 137440 |
GERSTMANN-STRAUSSLER DISEASE; GSD |
| 137550 |
GIANT PIGMENTED HAIRY NEVUS; GPHN |
| 137560 |
GIANT PLATELET SYNDROME WITH THROMBOCYTOPENIA |
| 137575 |
GIGANTIFORM CEMENTOMA, FAMILIAL |
| 137580 |
GILLES DE LA TOURETTE SYNDROME; GTS |
| 137600 |
IRIDOGONIODYSGENESIS, TYPE 2; IRID2 |
| 137700 |
GLAUCOMA WITH ELEVATED EPISCLERAL VENOUS PRESSURE |
| 137750 |
GLAUCOMA 1, OPEN ANGLE, A; GLC1A |
| 137760 |
GLAUCOMA, PRIMARY OPEN ANGLE; POAG GLAUCOMA 1, OPEN ANGLE, E, INCLUDED; GLC1E, INCLUDED |
| 137800 |
GLIOMA SUSCEPTIBILITY 1; GLM1 GLIOMA OF BRAIN, FAMILIAL, INCLUDED |
| 137900 |
GLOBULIN ANOMALY INVOLVING BETA (2A)-GLOBULIN |
| 137920 |
RENAL CYSTS AND DIABETES SYNDROME |
| 137940 |
GLOMERULONEPHRITIS WITH SPARSE HAIR AND TELANGIECTASES |
| 137950 |
GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 1; GFND1 |
| 138000 |
GLOMUVENOUS MALFORMATIONS; GVM |
| 138070 |
GLUCOGLYCINURIA |
| 138500 |
HYPERGLYCINURIA |
| 138770 |
GMS SYNDROME |
| 138790 |
GOITER, MULTINODULAR, CYSTIC RENAL DISEASE, AND DIGITAL ANOMALIES |
| 138800 |
GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS; MNG1 |
| 138900 |
URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1; UAQTL1 |
| 138920 |
GRANDDAD SYNDROME |
| 138930 |
GRANT SYNDROME |
| 138990 |
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL DOMINANT TYPE |
| 139000 |
GRANULOSIS RUBRA NASI |
| 139090 |
GRAY PLATELET SYNDROME; GPS |
| 139100 |
GRAYING OF HAIR, PRECOCIOUS |
| 139210 |
MYHRE SYNDROME; MYHRS |
| 139300 |
AROMATASE EXCESS SYNDROME; AEXS |
| 139393 |
GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS |
| 139400 |
HAIR WHORL |
| 139450 |
HAIR MORPHOLOGY 2; HRM2 |
| 139500 |
HAIRY EARS |
| 139600 |
HAIRY ELBOWS |
| 139630 |
HAIRY NOSE TIP |
| 139650 |
HAIRY PALMS AND SOLES |
| 139750 |
HAND AND FOOT DEFORMITY WITH FLAT FACIES |
| 140000 |
HAND-FOOT-UTERUS SYNDROME |
| 140300 |
HASHIMOTO THYROIDITIS |
| 140350 |
HAWKINSINURIA |
| 140400 |
PROGRESSIVE FAMILIAL HEART BLOCK, TYPE II; PFHB2 |
| 140450 |
HEART-HAND SYNDROME, SPANISH TYPE |
| 140500 |
HEART, MALFORMATION OF |
| 140600 |
OSTEOARTHRITIS SUSCEPTIBILITY 2; OS2 |
| 140700 |
HEINZ BODY ANEMIAS |
| 140850 |
HEMANGIOMAS, CAVERNOUS, OF FACE AND SUPRAUMBILICAL MIDLINE RAPHE |
| 140900 |
HEMANGIOMAS OF SMALL INTESTINE |
| 141000 |
HEMANGIOMA-THROMBOCYTOPENIA SYNDROME |
| 141200 |
HEMATURIA, BENIGN FAMILIAL; BFH |
| 141300 |
HEMIFACIAL ATROPHY, PROGRESSIVE; HFA |
| 141350 |
HEMIFACIAL HYPERPLASIA WITH STRABISMUS |
| 141400 |
HEMIFACIAL MICROSOMIA WITH RADIAL DEFECTS |
| 141500 |
MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1 |
| 141700 |
HEMOLYTIC POIKILOCYTIC ANEMIA DUE TO REDUCED ANKYRIN BINDING SITES |
| 141750 |
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED |
| 142309 |
HEMOGLOBIN--VARIANTS FOR WHICH THE CHAIN CARRYING THE MUTATION IS UNKNOWN OR UNCERTAIN |
| 142330 |
HEPATIC ADENOMAS, FAMILIAL |
| 142340 |
DIAPHRAGMATIC HERNIA, CONGENITAL |
| 142350 |
HERNIA, DOUBLE INGUINAL |
| 142395 |
HEPATITIS B VACCINE, RESPONSE TO |
| 142400 |
HERNIA, HIATUS |
| 142500 |
HETEROCHROMIA IRIDIS |
| 142623 |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1 |
| 142625 |
HIRSUTISM, SKELETAL DYSPLASIA, AND MENTAL RETARDATION |
| 142630 |
HISTIOCYTOSIS, PROGRESSIVE MUCINOUS |
| 142669 |
HIP DYSPLASIA, BEUKES TYPE |
| 142680 |
PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT |
| 142690 |
ACNE INVERSA, FAMILIAL, 1; ACNINV1 |
| 142700 |
ACETABULAR DYSPLASIA HIP, DISLOCATION OF, CONGENITAL, INCLUDED |
| 142900 |
HOLT-ORAM SYNDROME; HOS |
| 142945 |
HOLOPROSENCEPHALY 3; HPE3 |
| 142946 |
HOLOPROSENCEPHALY 4; HPE4 |
| 143000 |
HORNER SYNDROME, CONGENITAL |
| 143050 |
HUMERORADIAL SYNOSTOSIS |
| 143095 |
SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS |
| 143100 |
HUNTINGTON DISEASE; HD |
| 143200 |
WAGNER SYNDROME 1; WGN1 |
| 143400 |
MULTICYSTIC RENAL DYSPLASIA, BILATERAL; MCRD |
| 143465 |
ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD |
| 143470 |
HYPERALPHALIPOPROTEINEMIA 1; HALP1 |
| 143500 |
GILBERT SYNDROME |
| 143850 |
ORTHOSTATIC HYPOTENSIVE DISORDER, STREETEN TYPE |
| 143870 |
HYPERCALCIURIA, ABSORPTIVE, 2; HCA2 |
| 143880 |
HYPERCALCEMIA, INFANTILE |
| 143890 |
HYPERCHOLESTEROLEMIA, FAMILIAL |
| 144010 |
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B |
| 144050 |
HYPERHEPARINEMIA |
| 144100 |
HYPERHIDROSIS, GUSTATORY; HYPRG |
| 144110 |
HYPERHIDROSIS PALMARIS ET PLANTARIS; HYPRPP |
| 144120 |
HYPERIMMUNOGLOBULIN G1(A1) SYNDROME IMMUNOGLOBULIN HEAVY CHAIN REGULATOR, INCLUDED; IGHR |
| 144150 |
HYPERKERATOSIS LENTICULARIS PERSTANS; HLP |
| 144200 |
PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC; EPPK |
| 144250 |
HYPERLIPIDEMIA, FAMILIAL COMBINED; FCHL |
| 144300 |
HYPERLIPOPROTEINEMIA, TYPE II, AND DEAFNESS |
| 144600 |
HYPERLIPOPROTEINEMIA, TYPE IV |
| 144650 |
HYPERLIPOPROTEINEMIA, TYPE V |
| 144700 |
RENAL CELL CARCINOMA, NONPAPILLARY; RCC |
| 144750 |
HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS PALATINUS |
| 144755 |
HYPEROSTOSIS CRANIALIS INTERNA |
| 144800 |
HYPEROSTOSIS FRONTALIS INTERNA |
| 145000 |
HYPERPARATHYROIDISM 1; HRPT1 |
| 145001 |
HYPERPARATHYROIDISM 2; HRPT2 |
| 145100 |
HYPERPIGMENTATION OF EYELIDS |
| 145200 |
HYPERPIGMENTATION OF FULDAUER AND KUIJPERS |
| 145250 |
HYPERPIGMENTATION, FAMILIAL PROGRESSIVE, 2; FPH2 |
| 145260 |
PSEUDOHYPOALDOSTERONISM, TYPE IIA; PHA2A |
| 145290 |
HYPERREFLEXIA; HRX |
| 145295 |
HYPERSECRETION OF ADRENAL ANDROGENS, FAMILIAL |
| 145300 |
HYPERSENSITIVITY PNEUMONITIS, FAMILIAL |
| 145350 |
HYPERTAURINURIC CARDIOMYOPATHY |
| 145400 |
HYPERTELORISM |
| 145410 |
OPITZ GBBB SYNDROME, AUTOSOMAL DOMINANT |
| 145420 |
HYPERTELORISM, TEEBI TYPE |
| 145500 |
HYPERTENSION, ESSENTIAL |
| 145590 |
HYPERTHERMIA, CUTANEOUS, WITH HEADACHES AND NAUSEA |
| 145600 |
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 |
| 145650 |
THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY; PRTH |
| 145680 |
DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA |
| 145700 |
HYPERTRICHOSIS UNIVERSALIS |
| 145701 |
HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE; HTC1 |
| 145750 |
HYPERTRIGLYCERIDEMIA, FAMILIAL |
| 145800 |
HYPERTROPHIA MUSCULORUM VERA |
| 145900 |
HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS |
| 145980 |
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1 |
| 145981 |
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II; HHC2 |
| 146000 |
HYPOCHONDROPLASIA; HCH |
| 146110 |
HYPOGONADOTROPIC HYPOGONADISM |
| 146160 |
HYPOMELIA WITH MULLERIAN DUCT ANOMALIES |
| 146200 |
HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH |
| 146255 |
HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE; HDR |
| 146300 |
HYPOPHOSPHATASIA, ADULT |
| 146350 |
HYPOPHOSPHATEMIC BONE DISEASE; HBD |
| 146390 |
CHROMOSOME 18p DELETION SYNDROME |
| 146400 |
HYPOPLASIA OF TEETH ROOTS |
| 146450 |
HYPOSPADIAS 3, AUTOSOMAL; HYSP3 |
| 146500 |
MULTIPLE SYSTEM ATROPHY; MSA AUTONOMIC FAILURE, PURE, INCLUDED |
| 146510 |
PALLISTER-HALL SYNDROME; PHS |
| 146520 |
HYPOTRICHOSIS 2; HYPT2 |
| 146550 |
HYPOTRICHOSIS 4; HYPT4 |
| 146590 |
ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE; IHCM |
| 146600 |
ICHTHYOSIS HYSTRIX GRAVIOR |
| 146700 |
ICHTHYOSIS VULGARIS |
| 146720 |
ICHTHYOSIS--CHEEK--EYEBROW SYNDROME |
| 146750 |
ICHTHYOSIS, LAMELLAR, AUTOSOMAL DOMINANT |
| 146800 |
ICHTHYOSIS, BULLOUS TYPE |
| 146830 |
IMMUNE DEFICIENCY, FAMILIAL VARIABLE |
| 146840 |
IMMUNODEFICIENCY WITH DEFECTIVE LEUKOCYTE AND LYMPHOCYTE FUNCTION AND WITH RESPONSE TO HISTAMINE-1 ANTAGONIST |
| 146850 |
IMMUNE SUPPRESSION; IS |
| 147050 |
IgE RESPONSIVENESS, ATOPIC; IGER |
| 147060 |
HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT |
| 147250 |
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR; SMMCI |
| 147251 |
INCISORS, FUSED MANDIBULAR |
| 147300 |
INCISORS, LONG UPPER CENTRAL |
| 147330 |
INCISORS, LOWER CENTRAL, ABSENCE OF |
| 147350 |
INCISORS, ROTATION OF UPPER CENTRAL |
| 147400 |
INCISORS, SHOVEL-SHAPED |
| 147421 |
INCLUSION BODY MYOSITIS |
| 147430 |
INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL DOMINANT |
| 147480 |
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY; ICP |
| 147540 |
INSECT STINGS, HYPERSENSITIVITY TO |
| 147610 |
IRIS PIGMENT LAYER, CLEAVAGE OF |
| 147630 |
ISLET CELL ADENOMATOSIS |
| 147710 |
INTUSSUSCEPTION |
| 147750 |
IVIC SYNDROME |
| 147770 |
JOHNSON NEUROECTODERMAL SYNDROME |
| 147791 |
JACOBSEN SYNDROME; JBS |
| 147800 |
AASE-SMITH SYNDROME I |
| 147820 |
INTERNAL CAROTID ARTERY, SPONTANEOUS DISSECTION OF |
| 147891 |
SMALL PATELLA SYNDROME; SPS |
| 147900 |
JOINT LAXITY, FAMILIAL |
| 147920 |
KABUKI SYNDROME 1; KABUK1 |
| 147950 |
KALLMANN SYNDROME 2; KAL2 |
| 148000 |
KAPOSI SARCOMA |
| 148050 |
KBG SYNDROME; KBGS |
| 148100 |
KELOID FORMATION |
| 148190 |
KERATITIS, HEREDITARY |
| 148200 |
KERATITIS FUGAX HEREDITARIA |
| 148210 |
KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT |
| 148300 |
KERATOCONUS 1; KTCN1 |
| 148350 |
KERATODERMA, PALMOPLANTAR, WITH DEAFNESS |
| 148360 |
KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORY NEUROPATHY |
| 148370 |
KERATOLYTIC WINTER ERYTHEMA |
| 148390 |
KERATOSIS, FAMILIAL ACTINIC |
| 148500 |
TYLOSIS WITH ESOPHAGEAL CANCER; TOC |
| 148520 |
KERATOSIS PALMARIS ET PLANTARIS WITH CLINODACTYLY |
| 148600 |
KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE I; PPKP1 |
| 148700 |
KERATOSIS PALMOPLANTARIS STRIATA I; PPKS1 |
| 148730 |
KERATOSIS, FOCAL PALMOPLANTAR AND GINGIVAL |
| 148800 |
KLEEBLATTSCHAEDEL |
| 148820 |
WAARDENBURG SYNDROME, TYPE 3; WS3 |
| 148840 |
KLEINE-LEVIN HIBERNATION SYNDROME |
| 149000 |
KLIPPEL-TRENAUNAY-WEBER SYNDROME |
| 149100 |
KNUCKLE PADS |
| 149200 |
KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS |
| 149300 |
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 2; NDNC2 |
| 149400 |
HYPEREKPLEXIA, HEREDITARY 1; HKPX1 |
| 149500 |
KYRLE DISEASE |
| 149600 |
LABIA MINORA, INCOMPLETE ADHESION OF |
| 149700 |
LACRIMAL DUCT DEFECT |
| 149730 |
LACRIMOAURICULODENTODIGITAL SYNDROME; LADD |
| 150170 |
LACTIC ACIDOSIS, CHRONIC ADULT FORM |
| 150230 |
TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2 |
| 150250 |
LARSEN SYNDROME; LRS |
| 150260 |
LARYNGEAL ABDUCTOR PARALYSIS |
| 150270 |
LARYNGEAL ADDUCTOR PARALYSIS; LAP |
| 150280 |
LARYNGOMALACIA |
| 150300 |
LARYNX, CONGENITAL PARTIAL ATRESIA OF |
| 150360 |
LARYNGEAL WEB, FAMILIAL |
| 150400 |
TOOTH AGENESIS, SELECTIVE, 4; STHAG4 |
| 150500 |
LATTICE DEGENERATION OF RETINA LEADING TO RETINAL DETACHMENT |
| 150550 |
LAZY LEUKOCYTE SYNDROME |
| 150590 |
LEG ULCERS, FAMILIAL, OF JUVENILE ONSET |
| 150600 |
LEGG-CALVE-PERTHES DISEASE; LCPD |
| 150699 |
LEIOMYOMA, UTERINE; UL |
| 150700 |
LEIOMYOMA OF VULVA AND ESOPHAGUS |
| 150800 |
HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC |
| 150900 |
LENTIGINES |
| 151000 |
LENTIGINOSIS, CENTROFACIAL NEURODYSRAPHIC |
| 151001 |
LENTIGINOSIS, INHERITED PATTERNED |
| 151050 |
LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM |
| 151100 |
LEOPARD SYNDROME 1 |
| 151200 |
LERI PLEONOSTEOSIS |
| 151210 |
PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE; PLSDT |
| 151380 |
LEUKEMIA, ACUTE MONOCYTIC |
| 151400 |
LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL |
| 151590 |
LICHEN SCLEROSUS ET ATROPHICUS; LSA |
| 151600 |
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3; NDNC3 |
| 151610 |
LEVATOR-MEDIAL RECTUS SYNKINESIS |
| 151620 |
LICHEN PLANUS, FAMILIAL |
| 151623 |
LI-FRAUMENI SYNDROME 1; LFS1 |
| 151630 |
LIP, MEDIAN NODULE OF UPPER |
| 151640 |
LIP, HAMARTOMATOUS |
| 151660 |
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD2 |
| 151700 |
LIPOMA OF THE CONJUNCTIVA |
| 151800 |
LIPOMATOSIS, MULTIPLE SYMMETRIC; MSL |
| 151900 |
LIPOMATOSIS, MULTIPLE |
| 152420 |
LITHIUM TRANSPORT |
| 152550 |
LUMBAR STENOSIS, FAMILIAL |
| 152600 |
LUNULAE OF FINGERNAILS |
| 152700 |
SYSTEMIC LUPUS ERYTHEMATOSUS; SLE EXCESS LYMPHOCYTE LOW MOLECULAR WEIGHT DNA, INCLUDED |
| 152800 |
LYMPHANGIECTASIA, INTESTINAL |
| 152900 |
LYMPHEDEMA AND CEREBRAL ARTERIOVENOUS ANOMALY |
| 152950 |
MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR |
| 153100 |
LYMPHEDEMA, HEREDITARY, IA |
| 153200 |
LYMPHEDEMA, HEREDITARY, II |
| 153300 |
YELLOW NAIL SYNDROME |
| 153400 |
LYMPHEDEMA-DISTICHIASIS SYNDROME |
| 153470 |
MACROCEPHALY, BENIGN FAMILIAL |
| 153480 |
BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS |
| 153550 |
CHROMOSOME 5q DELETION SYNDROME |
| 153600 |
MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1; WM1 |
| 153630 |
MACROGLOSSIA |
| 153640 |
FECHTNER SYNDROME; FTNS |
| 153650 |
EPSTEIN SYNDROME |
| 153670 |
BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT; BSSA2 |
| 153700 |
MACULAR DYSTROPHY, VITELLIFORM; VMD |
| 153800 |
MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2 |
| 153840 |
MACULAR DYSTROPHY, ATYPICAL VITELLIFORM; VMD1 |
| 153870 |
MACULAR DYSTROPHY, CONCENTRIC ANNULAR |
| 153880 |
MACULAR EDEMA, CYSTOID |
| 153890 |
MACULAR DYSTROPHY, FENESTRATED SHEEN TYPE |
| 154000 |
MACULES, HEREDITARY CONGENITAL HYPOPIGMENTED AND HYPERPIGMENTED |
| 154020 |
HYPOMAGNESEMIA 2, RENAL; HOMG2 |
| 154230 |
46,XY SEX REVERSAL 4; SRXY4 |
| 154275 |
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2 |
| 154276 |
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3 |
| 154300 |
MALOCCLUSION DUE TO PROTUBERANT UPPER FRONT TEETH |
| 154400 |
ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1 |
| 154500 |
TREACHER COLLINS SYNDROME 1; TCS1 |
| 154600 |
MARCUS GUNN PHENOMENON |
| 154700 |
MARFAN SYNDROME; MFS |
| 154750 |
MARFANOID HYPERMOBILITY SYNDROME |
| 154780 |
MARSHALL SYNDROME; MRSHS |
| 154800 |
MAST CELL DISEASE |
| 154850 |
MASTICATORY MUSCLES, HYPERTROPHY OF |
| 155000 |
MAXILLOFACIAL DYSOSTOSIS |
| 155050 |
MAXILLONASAL DYSPLASIA, BINDER TYPE |
| 155100 |
MAY-HEGGLIN ANOMALY; MHA |
| 155140 |
MECKEL DIVERTICULUM |
| 155145 |
CLEFT, MEDIAN, OF UPPER LIP WITH POLYPS OF FACIAL SKIN AND NASAL MUCOSA |
| 155200 |
MEDIOSTERNAL DEPIGMENTATION LINE |
| 155240 |
THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC |
| 155255 |
MEDULLOBLASTOMA; MDB MEDULLOBLASTOMA, DESMOPLASTIC, INCLUDED |
| 155310 |
MEGADUODENUM AND/OR MEGACYSTIS PSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL |
| 155350 |
MEGALENCEPHALY |
| 155500 |
MEGALODACTYLY |
| 155600 |
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1; CMM1 |
| 155601 |
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2; CMM2 |
| 155700 |
MELANOMA, MALIGNANT FAMILIAL INTRAOCULAR |
| 155720 |
MELANOMA, UVEAL |
| 155755 |
MELANOMA-ASTROCYTOMA SYNDROME |
| 155800 |
MELANOSIS, UNIVERSAL |
| 155900 |
MELKERSSON-ROSENTHAL SYNDROME |
| 155950 |
MELORHEOSTOSIS, ISOLATED |
| 156000 |
MENIERE DISEASE |
| 156190 |
MENTAL AND GROWTH RETARDATION WITH AMBLYOPIA |
| 156200 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1 CHROMOSOME 2q23.1 DELETION SYNDROME, INCLUDED |
| 156230 |
MESOMELIC DWARFISM OF HYPOPLASTIC TIBIA AND RADIUS TYPE |
| 156232 |
MESOMELIC DYSPLASIA, KANTAPUTRA TYPE |
| 156240 |
MESOTHELIOMA, MALIGNANT; MESOM |
| 156250 |
METACHONDROMATOSIS; METCDS |
| 156310 |
METACHROMATIC LEUKODYSTROPHY, ADULT-ONSET, WITH NORMAL ARYLSULFATASE A |
| 156400 |
METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE |
| 156500 |
METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS |
| 156510 |
METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA AND BRACHYDACTYLY |
| 156520 |
METATARSUS VARUS, TYPE I |
| 156530 |
METATROPIC DYSPLASIA |
| 156550 |
KNIEST DYSPLASIA |
| 156580 |
MICROCEPHALY, AUTOSOMAL DOMINANT |
| 156600 |
MICROCORIA, CONGENITAL |
| 156610 |
SKIN CREASES, MULTIPLE BENIGN RING-SHAPED, OF LIMBS |
| 156620 |
MICROCEPHALY-DEAFNESS SYNDROME |
| 156700 |
MICROCORNEA, GLAUCOMA, AND ABSENT FRONTAL SINUSES |
| 156810 |
MICROGASTRIA-LIMB REDUCTION DEFECTS ASSOCIATION; MLRD |
| 156830 |
MICROMELIC BONE DYSPLASIA WITH CLOVERLEAF SKULL |
| 156850 |
MICROPHTHALMIA, ISOLATED, WITH CATARACT 1; MCOPCT1 |
| 156900 |
MICROPHTHALMIA, ISOLATED, WITH CORECTOPIA; MCOPCR |
| 157150 |
MICROSPHEROPHAKIA WITH HERNIA |
| 157151 |
MICROSPHEROPHAKIA-METAPHYSEAL DYSPLASIA |
| 157170 |
HOLOPROSENCEPHALY 2; HPE2 |
| 157200 |
MIDPHALANGEAL HAIR |
| 157300 |
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 |
| 157400 |
MILIA, MULTIPLE ERUPTIVE |
| 157600 |
MIRROR MOVEMENTS 1; MRMV1 |
| 157640 |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1; PEOA1 |
| 157700 |
MITRAL VALVE PROLAPSE, FAMILIAL; MVP |
| 157800 |
MITRAL REGURGITATION, CONDUCTIVE DEAFNESS, AND FUSION OF CERVICAL VERTEBRAE AND OF CARPAL AND TARSAL BONES |
| 157900 |
MOEBIUS SYNDROME; MBS |
| 157950 |
PERMANENT MOLARS, SECONDARY RETENTION OF |
| 157980 |
MOMO SYNDROME |
| 158000 |
MONILETHRIX |
| 158170 |
CHROMOSOME 9p DELETION SYNDROME |
| 158250 |
NONDISJUNCTION |
| 158300 |
ARTHROGRYPOSIS, DISTAL, TYPE 7; DA7 |
| 158310 |
MUCOEPITHELIAL DYSPLASIA, HEREDITARY |
| 158320 |
MUIR-TORRE SYNDROME; MRTES |
| 158330 |
MULLERIAN APLASIA AND HYPERANDROGENISM |
| 158345 |
MULTIPLE EXOSTOSES WITH SPASTIC TETRAPARESIS |
| 158350 |
COWDEN DISEASE; CD |
| 158400 |
MUSCLE CRAMPS, FAMILIAL |
| 158500 |
MUSCULAR ATROPHY, ATAXIA, RETINITIS PIGMENTOSA, AND DIABETES MELLITUS |
| 158580 |
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA; HMN7A |
| 158590 |
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA; HMN2A |
| 158600 |
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY, AUTOSOMAL DOMINANT; SMALED |
| 158650 |
MUSCULAR ATROPHY, MALIGNANT NEUROGENIC |
| 158800 |
MUSCULAR DYSTROPHY, BARNES TYPE |
| 158810 |
BETHLEM MYOPATHY |
| 158900 |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A |
| 159000 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A; LGMD1A |
| 159001 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B |
| 159050 |
MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC, WITH INTERNALIZED CAPILLARIES |
| 159100 |
MUSCULAR HYPOPLASIA, CONGENITAL UNIVERSAL, OF KRABBE |
| 159300 |
MUSICAL PERFECT PITCH |
| 159400 |
MYASTHENIA, LIMB-GIRDLE, AUTOIMMUNE |
| 159410 |
MYDRIATIC RESPONSE TO PHARMACOLOGIC AGENTS |
| 159420 |
MYDRIASIS, CONGENITAL |
| 159500 |
MYELINATED OPTIC NERVE FIBERS |
| 159550 |
MYELOCEREBELLAR DISORDER |
| 159580 |
MYELOPATHY, HTLV-1-ASSOCIATED; HAM |
| 159595 |
MYELOPROLIFERATIVE SYNDROME, TRANSIENT |
| 159600 |
MYOCLONIC EPILEPSY, HARTUNG TYPE |
| 159700 |
MYOCLONUS AND ATAXIA |
| 159800 |
MYOCLONUS, CEREBELLAR ATAXIA, AND DEAFNESS |
| 159900 |
MYOCLONIC DYSTONIA |
| 159950 |
SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY; SMAPME |
| 160010 |
MYOGLOBINURIA, AUTOSOMAL DOMINANT |
| 160120 |
EPISODIC ATAXIA, TYPE 1; EA1 |
| 160150 |
MYOPATHY, CENTRONUCLEAR, 1; CNM1 |
| 160300 |
MYOPATHY, DISTAL, WITH ONSET IN INFANCY |
| 160500 |
MYOPATHY, DISTAL, 1; MPD1 |
| 160565 |
MYOPATHY, TUBULAR AGGREGATE |
| 160570 |
MYOPATHY WITH STORAGE OF GLYCOPROTEINS AND GLYCOSAMINOGLYCANS |
| 160700 |
MYOPIA 2, AUTOSOMAL DOMINANT; MYP2 |
| 160750 |
MYOSITIS |
| 160800 |
MYOTONIA CONGENITA, AUTOSOMAL DOMINANT |
| 160900 |
MYOTONIC DYSTROPHY 1; DM1 |
| 160980 |
CARNEY COMPLEX, TYPE 1; CNC1 |
| 160990 |
MYOTONIC MYOPATHY WITH CYLINDRICAL SPIRALS |
| 161000 |
NAEGELI SYNDROME |
| 161050 |
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 1; NDNC1 |
| 161070 |
NAIL HIGH-SULFUR PROTEIN |
| 161080 |
NAIL LOW-SULFUR PROTEIN |
| 161100 |
NAILBEDS, PIGMENTATION OF |
| 161200 |
NAIL-PATELLA SYNDROME; NPS |
| 161400 |
NARCOLEPSY 1; NRCLP1 |
| 161470 |
NASAL ALAR COLLAPSE, BILATERAL |
| 161480 |
NASAL BONES, ABSENCE OF |
| 161500 |
NASAL GROOVE, FAMILIAL TRANSVERSE |
| 161530 |
NASAL HYPERPIGMENTATION, FAMILIAL TRANSVERSE |
| 161550 |
NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 2 |
| 161700 |
NECROTIZING ENCEPHALOMYELOPATHY, SUBACUTE, OF LEIGH, ADULT |
| 161800 |
NEMALINE MYOPATHY 3; NEM3 MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, INCLUDED |
| 161900 |
RENAL FAILURE, PROGRESSIVE, WITH HYPERTENSION |
| 161950 |
IgA NEPHROPATHY, SUSCEPTIBILITY TO, 1; IGAN1 |
| 162000 |
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1; HNFJ1 |
| 162091 |
SCHWANNOMATOSIS |
| 162100 |
AMYOTROPHY, HEREDITARY NEURALGIC; HNA |
| 162200 |
NEUROFIBROMATOSIS, TYPE I; NF1 |
| 162210 |
NEUROFIBROMATOSIS, FAMILIAL SPINAL |
| 162240 |
NEUROFIBROMATOSIS-PHEOCHROMOCYTOMA-DUODENAL CARCINOID SYNDROME |
| 162260 |
NEUROFIBROMATOSIS, TYPE III, MIXED CENTRAL AND PERIPHERAL; NF3A |
| 162270 |
NEUROFIBROMATOSIS, TYPE IV, OF RICCARDI; NF4 |
| 162300 |
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B |
| 162350 |
CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT; CLN4B |
| 162370 |
NEUROPATHY, CONGENITAL, WITH ARTHROGRYPOSIS MULTIPLEX |
| 162380 |
NEUROPATHY, HEREDITARY SENSORIMOTOR, WITH UPPER MOTOR NEURON, VISUAL PATHWAY AND AUTONOMIC DISTURBANCE |
| 162400 |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA; HSAN1A |
| 162500 |
NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP |
| 162600 |
NEUROPATHY, WITH PARAPROTEIN IN SERUM, CEREBROSPINAL FLUID AND URINE |
| 162700 |
NEUTROPENIA, CHRONIC FAMILIAL |
| 162800 |
CYCLIC NEUTROPENIA |
| 162820 |
NEUTROPHIL MIGRATION; NM |
| 162830 |
NEUTROPHILIA, HEREDITARY |
| 162900 |
NEVUS, EPIDERMAL |
| 163000 |
CAPILLARY MALFORMATIONS, CONGENITAL, 1 |
| 163050 |
NEVUS ANEMICUS |
| 163100 |
NEVUS FLAMMEUS OF NAPE OF NECK |
| 163200 |
SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME; SFM |
| 163400 |
NIEVERGELT SYNDROME |
| 163500 |
NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2; CSNBAD2 |
| 163600 |
NIPPLES INVERTED |
| 163700 |
NIPPLES, SUPERNUMERARY |
| 163800 |
SICK SINUS SYNDROME 2, AUTOSOMAL DOMINANT; SSS2 |
| 163850 |
NODULI CUTANEI, MULTIPLE, WITH URINARY TRACT ABNORMALITIES |
| 163950 |
NOONAN SYNDROME 1; NS1 |
| 164000 |
NOSE, ANOMALOUS SHAPE OF |
| 164100 |
NYSTAGMUS 2, CONGENITAL, AUTOSOMAL DOMINANT; NYS2 |
| 164150 |
NYSTAGMUS, HEREDITARY VERTICAL |
| 164170 |
NYSTAGMUS, VOLUNTARY |
| 164180 |
OCULOCEREBROCUTANEOUS SYNDROME |
| 164185 |
OCULAR CICATRICIAL PEMPHIGOID; OCP |
| 164200 |
OCULODENTODIGITAL DYSPLASIA; ODDD |
| 164210 |
HEMIFACIAL MICROSOMIA; HFM |
| 164220 |
SCHILBACH-ROTT SYNDROME |
| 164230 |
OBSESSIVE-COMPULSIVE DISORDER; OCD |
| 164280 |
FEINGOLD SYNDROME 1; FGLDS1 |
| 164300 |
OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD |
| 164310 |
OCULOPHARYNGODISTAL MYOPATHY; OPDM |
| 164330 |
ODONTOMA-DYSPHAGIA SYNDROME |
| 164400 |
SPINOCEREBELLAR ATAXIA 1; SCA1 |
| 164500 |
SPINOCEREBELLAR ATAXIA 7; SCA7 |
| 164680 |
ONYCHOGRYPOSIS, PEDAL, WITH KERATOSIS PLANTARIS AND COARSE HAIR |
| 164700 |
OLIVOPONTOCEREBELLAR ATROPHY V; OPCA V |
| 164745 |
OMODYSPLASIA 2; OMOD2 |
| 164750 |
OMPHALOCELE, AUTOSOMAL |
| 164800 |
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 5; NDNC5 |
| 164900 |
OPHTHALMOMANDIBULOMELIC DYSPLASIA |
| 165000 |
OPHTHALMOPLEGIA, FAMILIAL STATIC |
| 165098 |
OPHTHALMOPLEGIA, FAMILIAL TOTAL, WITH IRIS TRANSILLUMINATION |
| 165150 |
OPHTHALMOPLEGIA, PROGRESSIVE, WITH SCROTAL TONGUE AND MENTAL DEFICIENCY |
| 165199 |
OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMAL DOMINANT |
| 165200 |
OPTIC ATROPHY WITH DEMYELINATING DISEASE OF CNS |
| 165300 |
OPTIC ATROPHY 3, AUTOSOMAL DOMINANT |
| 165500 |
OPTIC ATROPHY 1; OPA1 |
| 165510 |
OPTIC ATROPHY WITH NEGATIVE ELECTRORETINOGRAMS |
| 165550 |
OPTIC NERVE HYPOPLASIA, BILATERAL OPTIC NERVE APLASIA, BILATERAL, INCLUDED |
| 165590 |
OROFACIODIGITAL SYNDROME X; OFD10 |
| 165600 |
ORBITAL MARGIN, HYPOPLASIA OF |
| 165660 |
OSLAM SYNDROME |
| 165670 |
OSSIFIED EAR CARTILAGES |
| 165680 |
OSSICULAR MALFORMATIONS, FAMILIAL |
| 165700 |
THIEMANN DISEASE |
| 165720 |
OSTEOARTHRITIS SUSCEPTIBILITY 1; OS1 |
| 165800 |
OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS; OD |
| 166000 |
ENCHONDROMATOSIS, MULTIPLE, OLLIER TYPE |
| 166200 |
OSTEOGENESIS IMPERFECTA, TYPE I |
| 166210 |
OSTEOGENESIS IMPERFECTA, TYPE II |
| 166220 |
OSTEOGENESIS IMPERFECTA, TYPE IV |
| 166230 |
OSTEOGENESIS IMPERFECTA WITH OPALESCENT TEETH, BLUE SCLERAE AND WORMIAN BONES, BUT WITHOUT FRACTURES |
| 166250 |
OSTEOGLOPHONIC DYSPLASIA; OGD |
| 166260 |
GNATHODIAPHYSEAL DYSPLASIA; GDD |
| 166300 |
MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; MCTO |
| 166350 |
OSSEOUS HETEROPLASIA, PROGRESSIVE; POH |
| 166400 |
OSTEOMAS OF MANDIBLE |
| 166450 |
OSTEOMESOPYKNOSIS |
| 166600 |
OSTEOPETROSIS, AUTOSOMAL DOMINANT 2; OPTA2 |
| 166700 |
BUSCHKE-OLLENDORFF SYNDROME; BOS |
| 166705 |
OSTEOPOIKILOSIS AND DACRYOCYSTITIS |
| 166710 |
OSTEOPOROSIS |
| 166740 |
OSTEOSCLEROSIS WITH ICHTHYOSIS AND FRACTURES |
| 166750 |
OTODENTAL DYSPLASIA |
| 166760 |
OTITIS MEDIA, SUSCEPTIBILITY TO |
| 166780 |
OTOFACIOCERVICAL SYNDROME |
| 166800 |
OTOSCLEROSIS 1; OTSC1 |
| 166900 |
OVALOCYTOSIS, HEREDITARY HEMOLYTIC |
| 166910 |
OVALOCYTOSIS, HEREDITARY HEMOLYTIC, WITH DEFECTIVE ERYTHROPOIESIS |
| 166950 |
TERATOMA, OVARIAN |
| 166970 |
OVARIAN FIBROMATA |
| 166990 |
OSTEOCHONDRODYSPLASIA, RHIZOMELIC, WITH CALLOSAL AGENESIS, THROMBOCYTOPENIA, HYDROCEPHALUS, AND HYPERTENSION |
| 167000 |
OVARIAN CANCER OVARIAN CANCER, EPITHELIAL, INCLUDED |
| 167030 |
NEPHROLITHIASIS, CALCIUM OXALATE |
| 167100 |
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT; PHOAD |
| 167200 |
PACHYONYCHIA CONGENITA, TYPE 1; PC1 |
| 167210 |
PACHYONYCHIA CONGENITA, TYPE 2; PC2 |
| 167220 |
PACMAN DYSPLASIA |
| 167250 |
PAGET DISEASE OF BONE 1; PDB1 |
| 167300 |
PAGET DISEASE, EXTRAMAMMARY |
| 167320 |
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD |
| 167400 |
PAROXYSMAL EXTREME PAIN DISORDER |
| 167500 |
PALATOPHARYNGEAL INCOMPETENCE |
| 167730 |
PALPEBRAL COLOBOMA-LIPOMA SYNDROME |
| 167750 |
PANCREAS, ANNULAR |
| 167800 |
PANCREATITIS, HEREDITARY; PCTT |
| 167850 |
PANCYTOPENIA AND OCCLUSIVE VASCULAR DISEASE |
| 167870 |
PANIC DISORDER 1; PAND1 |
| 167900 |
PAPILLOMATOSIS, CONFLUENT AND RETICULATED; CARP |
| 167950 |
PAPILLOMATOSIS, FLORID, OF NIPPLE |
| 168000 |
PARAGANGLIOMAS 1; PGL1 |
| 168100 |
PARALYSIS AGITANS, JUVENILE, OF HUNT |
| 168200 |
PARAMOLAR TUBERCLE OF BOLK |
| 168300 |
PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC |
| 168400 |
PARASTREMMATIC DWARFISM |
| 168500 |
PARIETAL FORAMINA; PFM |
| 168550 |
PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA; PFMCCD |
| 168600 |
PARKINSON DISEASE, LATE-ONSET; PD |
| 168605 |
PERRY SYNDROME |
| 168800 |
PAROTIDOMEGALY, HEREDITARY BILATERAL |
| 168830 |
PASSOVOY FACTOR DEFECT |
| 168850 |
PATELLA APLASIA, COXA VARA, AND TARSAL SYNOSTOSIS |
| 168860 |
PATELLA APLASIA-HYPOPLASIA; PTLAH |
| 168885 |
PAROXYSMAL TONIC UPGAZE, BENIGN CHILDHOOD, WITH ATAXIA |
| 168900 |
PATELLA, CHONDROMALACIA OF |
| 169000 |
PATELLA, FAMILIAL RECURRENT DISLOCATION OF |
| 169100 |
CHAR SYNDROME |
| 169150 |
PATTERNED DYSTROPHY OF RETINAL PIGMENT EPITHELIUM |
| 169170 |
PATTERSON PSEUDOLEPRECHAUNISM SYNDROME |
| 169200 |
PECHET FACTOR DEFICIENCY |
| 169300 |
PECTUS EXCAVATUM |
| 169400 |
PELGER-HUET ANOMALY; PHA |
| 169500 |
LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT; ADLD |
| 169545 |
PELVIC LIPOMATOSIS WITH CROSSED RENAL ECTOPIA |
| 169550 |
PELVIS-SHOULDER DYSPLASIA |
| 169600 |
BENIGN CHRONIC PEMPHIGUS; BCPM |
| 169610 |
PEMPHIGUS VULGARIS, FAMILIAL |
| 170100 |
PROLIDASE DEFICIENCY |
| 170390 |
ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS |
| 170400 |
HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1; HOKPP1 |
| 170500 |
HYPERKALEMIC PERIODIC PARALYSIS; HYPP |
| 170600 |
NORMOKALEMIC PERIODIC PARALYSIS |
| 170650 |
PERIODONTITIS, AGGRESSIVE, 1 |
| 170700 |
PERIPHERAL DYSOSTOSIS |
| 170900 |
PERNICIOUS ANEMIA |
| 171000 |
PEYRONIE DISEASE |
| 171200 |
THIOUREA TASTING PHENYLTHIOCARBAMIDE TASTING, INCLUDED |
| 171300 |
PHEOCHROMOCYTOMA PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO |
| 171400 |
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A |
| 171420 |
PHEOCHROMOCYTOMA--ISLET CELL TUMOR SYNDROME |
| 171450 |
PHLEBECTASIA OF LIPS |
| 171480 |
PHOCOMELIA-ECTRODACTYLY, EAR MALFORMATION, DEAFNESS, AND SINUS ARRHYTHMIA |
| 172150 |
6-@PHOSPHOGLUCONOLACTONASE DEFICIENCY |
| 172500 |
PHOTOMYOCLONUS, DIABETES MELLITUS, DEAFNESS, NEPHROPATHY, AND CEREBRAL DYSFUNCTION |
| 172700 |
PICK DISEASE OF BRAIN |
| 172800 |
PIEBALD TRAIT; PBT |
| 172850 |
PIEBALD TRAIT WITH NEUROLOGIC DEFECTS |
| 172870 |
PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY; PPCRA |
| 172880 |
PIERRE ROBIN SYNDROME AND OLIGODACTYLY |
| 172900 |
PIGMENTED PURPURIC ERUPTION |
| 173000 |
PILONIDAL SINUS |
| 173100 |
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II; IGHD2 |
| 173200 |
PITYRIASIS RUBRA PILARIS; PRP |
| 173400 |
PLATELET AGGREGATION, SPONTANEOUS |
| 173420 |
PLATELET DISORDER, UNDEFINED |
| 173450 |
PLATELET FACTOR 3 DEFICIENCY |
| 173580 |
PLATELET RESPONSIVENESS TO ADRENALINE, DEPRESSED |
| 173590 |
PLATELET SIGNAL PROCESSING DEFECT |
| 173600 |
PNEUMOTHORAX, PRIMARY SPONTANEOUS |
| 173650 |
KINDLER SYNDROME |
| 173700 |
POIKILODERMA, HEREDITARY SCLEROSING |
| 173800 |
POLAND SYNDROME |
| 173900 |
POLYCYSTIC KIDNEY DISEASE 1; PKD1 |
| 174000 |
MEDULLARY CYSTIC KIDNEY DISEASE 1; MCKD1 |
| 174050 |
POLYCYSTIC LIVER DISEASE; PCLD |
| 174200 |
POLYDACTYLY, POSTAXIAL, TYPE A1 |
| 174300 |
OROFACIODIGITAL SYNDROME V; OFD5 |
| 174310 |
POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA |
| 174400 |
POLYDACTYLY, PREAXIAL I |
| 174500 |
POLYDACTYLY, PREAXIAL II; PPD2 |
| 174600 |
POLYDACTYLY, PREAXIAL III |
| 174700 |
POLYDACTYLY, PREAXIAL IV |
| 174770 |
ACTINIC PRURIGO POLYMORPHIC LIGHT ERUPTION, HEREDITARY; HPLE |
| 174800 |
MCCUNE-ALBRIGHT SYNDROME; MAS |
| 174810 |
FAMILIAL EXPANSILE OSTEOLYSIS; FEO |
| 174900 |
JUVENILE POLYPOSIS SYNDROME; JPS |
| 175020 |
POLYPOSIS, GASTRIC |
| 175050 |
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT |
| 175100 |
FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1 |
| 175200 |
PEUTZ-JEGHERS SYNDROME; PJS |
| 175400 |
POLYPOSIS, INTESTINAL, SCATTERED AND DISCRETE |
| 175450 |
POLYPOSIS, INTESTINAL, WITH MULTIPLE EXOSTOSES |
| 175500 |
POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES |
| 175505 |
POLYPOSIS OF GASTRIC FUNDUS WITHOUT POLYPOSIS COLI |
| 175510 |
POLYPS, MULTIPLE AND RECURRENT INFLAMMATORY FIBROID, GASTROINTESTINAL |
| 175700 |
GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS |
| 175750 |
POPLITEAL CYST |
| 175780 |
PORENCEPHALY 1; POREN1 |
| 175800 |
POROKERATOSIS OF MIBELLI |
| 175850 |
POROKERATOSIS, PALMAR, PLANTAR, AND DISSEMINATED, 1; PPPD1 |
| 175860 |
KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE II; PPKP2 |
| 175900 |
POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1; DSAP1 |
| 176000 |
PORPHYRIA, ACUTE INTERMITTENT |
| 176090 |
PORPHYRIA CUTANEA TARDA, TYPE I |
| 176100 |
PORPHYRIA CUTANEA TARDA |
| 176200 |
PORPHYRIA VARIEGATA |
| 176240 |
POSTAXIAL OLIGODACTYLY, TETRAMELIC |
| 176250 |
POSTERIOR COLUMN ATAXIA |
| 176270 |
PRADER-WILLI SYNDROME; PWS |
| 176305 |
PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS |
| 176400 |
PRECOCIOUS PUBERTY, CENTRAL |
| 176410 |
PRECOCIOUS PUBERTY, MALE-LIMITED |
| 176430 |
PREMATURE CHROMATID SEPARATION TRAIT; PCS |
| 176450 |
CURRARINO SYNDROME |
| 176500 |
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 |
| 176600 |
PRESENILE DEMENTIA, KRAEPELIN TYPE |
| 176620 |
PRIAPISM, FAMILIAL IDIOPATHIC |
| 176630 |
PRIMARY RELEASE DISORDER OF PLATELETS |
| 176670 |
HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS |
| 176690 |
PROGEROID SHORT STATURE WITH PIGMENTED NEVI |
| 176700 |
PROGNATHISM, MANDIBULAR |
| 176780 |
PELVIC ORGAN PROLAPSE, SUSCEPTIBILITY TO |
| 176800 |
PRONATION-SUPINATION OF THE FOREARM, IMPAIRMENT OF |
| 176807 |
PROSTATE CANCER |
| 176860 |
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT; THPH3 |
| 176920 |
PROTEUS SYNDROME |
| 177000 |
PROTOPORPHYRIA, ERYTHROPOIETIC; EPP |
| 177050 |
PROTRUSIO ACETABULI |
| 177100 |
PRURITUS, HEREDITARY LOCALIZED |
| 177170 |
PSEUDOACHONDROPLASIA; PSACH |
| 177200 |
LIDDLE SYNDROME |
| 177300 |
PSEUDOARTHROGRYPOSIS |
| 177350 |
PSEUDOATROPHODERMA COLLI |
| 177650 |
EXFOLIATION SYNDROME; XFS |
| 177700 |
PSEUDOGLAUCOMA |
| 177720 |
PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK |
| 177820 |
PSEUDO-VON WILLEBRAND DISEASE; VWDP |
| 177850 |
PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS, INCLUDED |
| 177900 |
PSORIASIS SUSCEPTIBILITY 1; PSORS1 |
| 177980 |
PTERYGIA, MENTAL RETARDATION, AND DISTINCTIVE CRANIOFACIAL FEATURES |
| 177990 |
PTERYGIUM COLLI, ISOLATED |
| 178000 |
PTERYGIUM OF CONJUNCTIVA AND CORNEA |
| 178110 |
ARTHROGRYPOSIS, DISTAL, TYPE 8; DA8 |
| 178200 |
PTERYGIUM, ANTECUBITAL |
| 178300 |
PTOSIS, HEREDITARY CONGENITAL 1; PTOS1 |
| 178330 |
PTOSIS, STRABISMUS, AND ECTOPIC PUPILS |
| 178370 |
PULMONARY ATRESIA WITH VENTRICULAR SEPTAL DEFECT |
| 178400 |
PULMONARY EDEMA OF MOUNTAINEERS |
| 178500 |
PULMONARY FIBROSIS, IDIOPATHIC; IPF |
| 178550 |
PULMONARY HEMOSIDEROSIS |
| 178600 |
PULMONARY HYPERTENSION, PRIMARY, 1; PPH1 |
| 178610 |
PULMONARY NODULAR LYMPHOID HYPERPLASIA, FAMILIAL |
| 178650 |
PULMONIC STENOSIS, ATRIAL SEPTAL DEFECT, AND UNIQUE ELECTROCARDIOGRAPHIC ABNORMALITIES |
| 178651 |
PULMONIC STENOSIS AND DEAFNESS |
| 178800 |
PUPIL, EGG-SHAPED |
| 178900 |
PUPILLARY MEMBRANE, PERSISTENCE OF |
| 178995 |
PRURITIC URTICARIAL PAPULES AND PLAQUES OF PREGNANCY; PUPPP |
| 179000 |
PURPURA SIMPLEX |
| 179010 |
PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 1; IHPS1 |
| 179200 |
RADIAL HEADS, POSTERIOR DISLOCATION OF |
| 179250 |
RADIAL HYPOPLASIA, TRIPHALANGEAL THUMBS, HYPOSPADIAS, AND MAXILLARY DIASTEMA |
| 179270 |
RADIAL RAY HYPOPLASIA WITH CHOANAL ATRESIA |
| 179280 |
RADIAL-RENAL SYNDROME |
| 179300 |
RADIOULNAR SYNOSTOSIS |
| 179400 |
RADIUS, APLASIA OF, WITH CLEFT LIP/PALATE |
| 179450 |
RAGWEED SENSITIVITY |
| 179500 |
RAINDROP HYPOPIGMENTATION |
| 179613 |
RECOMBINANT CHROMOSOME 8 SYNDROME |
| 179650 |
RED CELL PERMEABILITY DEFECT |
| 179700 |
RED CELL PHOSPHOLIPID DEFECT WITH HEMOLYSIS |
| 179800 |
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT |
| 179830 |
RENAL TUBULAR ACIDOSIS, PROXIMAL |
| 179840 |
RETICULAR DYSTROPHY OF RETINAL PIGMENT EPITHELIUM |
| 179850 |
DOWLING-DEGOS DISEASE; DDD |
| 179900 |
RETINAL APLASIA |
| 180020 |
RETINAL CONE DYSTROPHY 1; RCD1 |
| 180050 |
RETINAL DETACHMENT |
| 180070 |
RETINAL NONATTACHMENT AND FALCIFORM DETACHMENT |
| 180080 |
RETINAL VENOUS BEADING |
| 180100 |
RETINITIS PIGMENTOSA 1; RP1 |
| 180104 |
RETINITIS PIGMENTOSA 9; RP9 |
| 180105 |
RETINITIS PIGMENTOSA 10; RP10 |
| 180200 |
RETINOBLASTOMA; RB1 |
| 180210 |
RETINOPATHY, PERICENTRAL PIGMENTARY, DOMINANT |
| 180270 |
RETINOSCHISIS, AUTOSOMAL DOMINANT |
| 180300 |
RHEUMATOID ARTHRITIS; RA |
| 180350 |
RHEUMATOID NODULOSIS |
| 180360 |
RHINY |
| 180500 |
AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1 |
| 180600 |
RINGED HAIR |
| 180700 |
ROBINOW SYNDROME, AUTOSOMAL DOMINANT; DRS |
| 180730 |
ROMBO SYNDROME |
| 180750 |
ROBINOW-SORAUF SYNDROME |
| 180800 |
ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA |
| 180849 |
RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 |
| 180860 |
SILVER-RUSSELL SYNDROME; SRS |
| 180870 |
RUVALCABA SYNDROME |
| 180900 |
RUTHERFURD SYNDROME |
| 180920 |
APLASIA OF LACRIMAL AND SALIVARY GLANDS; ALSG |
| 181000 |
SARCOIDOSIS, SUSCEPTIBILITY TO, 1; SS1 |
| 181010 |
SALIVARY DUCT CALCULI |
| 181030 |
SALIVARY GLAND ADENOMA, PLEOMORPHIC |
| 181180 |
SAY SYNDROME |
| 181250 |
SCALP DEFECTS AND POSTAXIAL POLYDACTYLY |
| 181270 |
SCALP-EAR-NIPPLE SYNDROME |
| 181350 |
EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT; EDMD2 |
| 181400 |
SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE; SCPNK |
| 181405 |
SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY; SPSMA |
| 181430 |
SCAPULOPERONEAL MYOPATHY, MYH7-RELATED; SPMM |
| 181440 |
SCHEUERMANN DISEASE |
| 181450 |
ULNAR-MAMMARY SYNDROME; UMS |
| 181460 |
SCHISTOSOMA MANSONI INFECTION, SUSCEPTIBILITY/RESISTANCE TO |
| 181500 |
SCHIZOPHRENIA; SCZD |
| 181510 |
SCHIZOPHRENIA 1; SCZD1 |
| 181515 |
SCHOLTE SYNDROME |
| 181600 |
SCLEROTYLOSIS |
| 181700 |
SCLEROCORNEA, AUTOSOMAL DOMINANT |
| 181750 |
SCLERODERMA, FAMILIAL PROGRESSIVE |
| 181800 |
SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 1; IS1 |
| 182000 |
KERATOSIS, SEBORRHEIC |
| 182150 |
SIMOSA CRANIOFACIAL SYNDROME |
| 182170 |
ANEMIA, SIDEROBLASTIC, AUTOSOMAL DOMINANT |
| 182190 |
SINUS NODE DISEASE AND MYOPIA |
| 182200 |
SELLA TURCICA, BRIDGED |
| 182210 |
SHPRINTZEN OMPHALOCELE SYNDROME |
| 182212 |
SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME |
| 182230 |
SEPTOOPTIC DYSPLASIA |
| 182250 |
SINGLETON-MERTEN SYNDROME |
| 182255 |
SKELETAL DYSPLASIA WITH DELAYED EPIPHYSEAL AND CARPAL BONE OSSIFICATION |
| 182260 |
SLIPPED FEMORAL CAPITAL EPIPHYSES |
| 182280 |
SMALL CELL CANCER OF THE LUNG |
| 182290 |
SMITH-MAGENIS SYNDROME; SMS |
| 182410 |
SNEDDON SYNDROME |
| 182600 |
SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A |
| 182601 |
SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4 |
| 182610 |
SPASTIC PARAPLEGIA, EPILEPSY, AND MENTAL RETARDATION; SPEMR |
| 182690 |
SPASTIC PARAPLEGIA, SENSORINEURAL DEAFNESS, MENTAL RETARDATION, AND PROGRESSIVE NEPHROPATHY |
| 182800 |
SPASTIC PARAPLEGIA WITH ASSOCIATED EXTRAPYRAMIDAL SIGNS |
| 182815 |
SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA |
| 182820 |
SPASTIC PARAPLEGIA WITH PRECOCIOUS PUBERTY |
| 182830 |
SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND DEMENTIA |
| 182875 |
SPEECH DEVELOPMENT, DELAYED, WITH FACIAL ASYMMETRY, STRABISMUS, AND TRANSVERSE EARLOBE CREASE |
| 182900 |
SPHEROCYTOSIS, TYPE 1; SPH1 |
| 182920 |
MYOPATHY, SPHEROID BODY |
| 182940 |
NEURAL TUBE DEFECTS |
| 182950 |
SPINAL ARACHNOIDITIS |
| 182960 |
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I; HMN1 |
| 182970 |
SPINAL MUSCULAR ATROPHY, FACIOSCAPULOHUMERAL TYPE |
| 182980 |
SPINAL MUSCULAR ATROPHY, PROXIMAL, ADULT, AUTOSOMAL DOMINANT SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE, INCLUDED |
| 182990 |
SPINAL INTRADURAL ARACHNOID CYSTS |
| 183020 |
SPINAL MUSCULAR ATROPHY, SEGMENTAL |
| 183050 |
SPINOCEREBELLAR ATAXIA WITH RIGIDITY AND PERIPHERAL NEUROPATHY |
| 183086 |
SPINOCEREBELLAR ATAXIA 6; SCA6 |
| 183090 |
SPINOCEREBELLAR ATAXIA 2; SCA2 |
| 183100 |
SPINOCEREBELLAR ATROPHY WITH PUPILLARY PARALYSIS |
| 183300 |
SPLENOGONADAL FUSION WITH LIMB DEFECTS AND MICROGNATHIA |
| 183350 |
SPLENOMEGALY SYNDROME WITH SPLENIC GERMINAL CENTER HYPOPLASIA AND REDUCED CIRCULATING T-HELPER CELLS |
| 183400 |
SPLIT LOWER LIP |
| 183500 |
SPLIT-HAND AND SPLIT-FOOT WITH HYPODONTIA |
| 183600 |
SPLIT-HAND/FOOT MALFORMATION 1; SHFM1 |
| 183700 |
SPLIT-FOOT DEFORMITY WITH MANDIBULOFACIAL DYSOSTOSIS |
| 183800 |
SPLIT-HAND WITH CONGENITAL NYSTAGMUS, FUNDAL CHANGES, AND CATARACTS |
| 183802 |
SPLIT-HAND WITH OBSTRUCTIVE UROPATHY, SPINA BIFIDA, AND DIAPHRAGMATIC DEFECTS |
| 183840 |
SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 2; SPDA2 |
| 183849 |
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS |
| 183850 |
SPONDYLOEPIPHYSEAL DYSPLASIA WITH PUNCTATE CORNEAL DYSTROPHY |
| 183900 |
SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC |
| 184000 |
SPONDYLOEPIPHYSEAL DYSPLASIA, MYOPIA, AND SENSORINEURAL DEAFNESS |
| 184095 |
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE |
| 184100 |
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL DOMINANT |
| 184200 |
SPONDYLOLISTHESIS |
| 184250 |
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE; SEMDSTWK |
| 184252 |
SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE; SMDK |
| 184253 |
SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE |
| 184255 |
SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE |
| 184260 |
SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA |
| 184300 |
SPONDYLOSIS, CERVICAL |
| 184400 |
SPRENGEL DEFORMITY |
| 184450 |
STUTTERING, FAMILIAL PERSISTENT, 1; STUT1 |
| 184460 |
STAPES ANKYLOSIS WITH BROAD THUMB AND TOES |
| 184500 |
STEATOCYSTOMA MULTIPLEX |
| 184510 |
STEATOCYSTOMA MULTIPLEX WITH NATAL TEETH |
| 184700 |
POLYCYSTIC OVARY SYNDROME 1; PCOS1 |
| 184705 |
STEINFELD SYNDROME |
| 184800 |
STERNUM, PREMATURE OBLITERATION OF SUTURES OF |
| 184840 |
STICKLER SYNDROME, TYPE III; STL3 |
| 184850 |
STIFF-PERSON SYNDROME; SPS |
| 184900 |
STIFF SKIN SYNDROME; SSKS |
| 185000 |
STOMATOCYTOSIS I |
| 185010 |
STOMATOCYTOSIS II |
| 185020 |
PSEUDOHYPERKALEMIA CARDIFF |
| 185050 |
STORAGE POOL PLATELET DISEASE |
| 185069 |
STORM SYNDROME |
| 185070 |
STORMORKEN SYNDROME |
| 185100 |
STRABISMUS, SUSCEPTIBILITY TO STRABISMUS, SUSCEPTIBILITY TO, 1, INCLUDED; STBMS1, INCLUDED |
| 185200 |
STRIAE DISTENSAE, FAMILIAL |
| 185300 |
STURGE-WEBER SYNDROME; SWS |
| 185460 |
SULFHEMOGLOBINEMIA, CONGENITAL |
| 185480 |
SUPRABULBAR PARESIS, CONGENITAL |
| 185500 |
SUPRAVALVULAR AORTIC STENOSIS; SVAS |
| 185600 |
SYMPHALANGISM OF TOES |
| 185650 |
SYMPHALANGISM, C. S. LEWIS TYPE |
| 185700 |
SYMPHALANGISM, DISTAL |
| 185750 |
SYMPHALANGISM WITH MULTIPLE ANOMALIES OF HANDS AND FEET |
| 185800 |
SYMPHALANGISM, PROXIMAL; SYM1 |
| 185900 |
SYNDACTYLY, TYPE I |
| 186000 |
SYNPOLYDACTYLY 1; SPD1 |
| 186100 |
SYNDACTYLY, TYPE III |
| 186200 |
SYNDACTYLY, TYPE IV |
| 186300 |
SYNDACTYLY, TYPE V |
| 186350 |
SYNDACTYLY-POLYDACTYLY-EARLOBE SYNDROME |
| 186400 |
SYNOSTOSES, TARSAL, CARPAL, AND DIGITAL |
| 186500 |
MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1 |
| 186550 |
SYNOSTOSIS, CARPAL, WITH DYSPLASTIC ELBOW JOINTS AND BRACHYDACTYLY |
| 186570 |
TARSAL-CARPAL COALITION SYNDROME; TCC SYNOSTOSIS OF TALUS AND CALCANEUS WITH SHORT STATURE, INCLUDED |
| 186575 |
SYNOVIAL CHONDROMATOSIS, FAMILIAL, WITH DWARFISM |
| 186580 |
BLAU SYNDROME |
| 186600 |
SYRINGOMAS, MULTIPLE |
| 186700 |
SYRINGOMYELIA, ISOLATED |
| 186750 |
TALONAVICULAR COALITION |
| 186850 |
TARSAL COALITION |
| 187000 |
TEETH, ODD SHAPES OF LOBODONTIA, INCLUDED |
| 187050 |
TEETH PRESENT AT BIRTH |
| 187100 |
TEETH, SUPERNUMERARY |
| 187260 |
TELANGIECTASIA, HEREDITARY BENIGN |
| 187300 |
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER; HHT |
| 187350 |
TELECANTHUS |
| 187360 |
TEMPORAL ARTERITIS |
| 187370 |
ARTHROGRYPOSIS, DISTAL, TYPE 10; DA10 |
| 187390 |
TENDONS, EXTENSOR, OF FINGERS, ANOMALOUS INSERTION OF |
| 187400 |
TESTICULAR TORSION |
| 187500 |
TETRALOGY OF FALLOT; TOF |
| 187501 |
TETRALOGY OF FALLOT AND GLAUCOMA |
| 187510 |
TETRAMELIC MONODACTYLY |
| 187550 |
THALASSEMIA, BETA+, SILENT ALLELE |
| 187600 |
THANATOPHORIC DYSPLASIA, TYPE I; TD1 |
| 187601 |
THANATOPHORIC DYSPLASIA, TYPE II; TD2 |
| 187750 |
THORACIC DYSOSTOSIS, ISOLATED |
| 187760 |
THORACOLARYNGOPELVIC DYSPLASIA; TLPD |
| 187770 |
THORACOPELVIC DYSOSTOSIS |
| 187800 |
GLANZMANN THROMBASTHENIA, AUTOSOMAL DOMINANT |
| 187900 |
THROMBASTHENIA-THROMBOCYTOPENIA, HEREDITARY |
| 187950 |
THROMBOCYTHEMIA 1; THCYT1 |
| 188000 |
THROMBOCYTOPENIA 2; THC2 |
| 188020 |
THROMBOCYTOPENIA, CYCLIC |
| 188025 |
THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT |
| 188030 |
THROMBOCYTOPENIC PURPURA, AUTOIMMUNE; AITP |
| 188050 |
THROMBOPHILIA DUE TO THROMBIN DEFECT; THPH1 |
| 188055 |
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE; THPH2 |
| 188100 |
THUMB DEFORMITY |
| 188150 |
THUMB DEFORMITY AND ALOPECIA |
| 188201 |
THUMBS, STIFF, WITH BRACHYDACTYLY TYPE A1 AND DEVELOPMENTAL DELAY |
| 188400 |
DIGEORGE SYNDROME; DGS |
| 188470 |
THYROID CARCINOMA, FOLLICULAR; FTC |
| 188550 |
THYROID CARCINOMA, PAPILLARY |
| 188560 |
THYROID HORMONE PLASMA MEMBRANE TRANSPORT DEFECT |
| 188570 |
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; GRTH |
| 188580 |
THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1; TTPP1 |
| 188700 |
BLOUNT DISEASE, INFANTILE |
| 188740 |
TIBIA, ABSENCE OF, WITH POLYDACTYLY |
| 188770 |
TIBIA, HYPOPLASIA OF, WITH POLYDACTYLY |
| 188800 |
TIBIAL TORSION, BILATERAL MEDIAL |
| 189150 |
TOE, ROTATED FIFTH |
| 189230 |
TOES, SPACE BETWEEN FIRST AND SECOND |
| 189300 |
TONGUE CURLING, FOLDING, OR ROLLING CLOVERLEAF TONGUE, INCLUDED |
| 189490 |
MALPOSITION OF TEETH WITH OR WITHOUT HYPODONTIA/OLIGODONTIA |
| 189500 |
WITKOP SYNDROME |
| 189600 |
TORTICOLLIS |
| 189700 |
TORUS PALATINUS AND TORUS MANDIBULARIS |
| 189800 |
PREECLAMPSIA/ECLAMPSIA 1; PEE1 |
| 189960 |
TRACHEOESOPHAGEAL FISTULA WITH OR WITHOUT ESOPHAGEAL ATRESIA |
| 189961 |
TRACHEOPATHIA OSTEOPLASTICA |
| 190100 |
GENIOSPASM 1; GSM1 |
| 190200 |
TREMOR OF INTENTION, ATAXIA, AND LIPOFUSCINOSIS |
| 190300 |
TREMOR, HEREDITARY ESSENTIAL, 1; ETM1 |
| 190310 |
TREMOR, NYSTAGMUS, AND DUODENAL ULCER |
| 190320 |
TRICHODENTOOSSEOUS SYNDROME |
| 190330 |
TRICHOMEGALY |
| 190340 |
TRICHODISCOMAS, FAMILIAL MULTIPLE |
| 190345 |
TRICHOEPITHELIOMAS, MULTIPLE DESMOPLASTIC |
| 190350 |
TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1 |
| 190351 |
TRICHORHINOPHALANGEAL SYNDROME, TYPE III; TRPS3 |
| 190360 |
TRICHODYSPLASIA-XERODERMA |
| 190410 |
TRIGGER THUMB |
| 190420 |
TRIGLYCERIDE STORAGE DISEASE, TYPE I |
| 190430 |
TRIGLYCERIDE STORAGE DISEASE, TYPE II |
| 190440 |
TRIGONOCEPHALY 1; TRIGNO1 |
| 190500 |
TRIPHALANGEAL THUMB WITH DOUBLE PHALANGES |
| 190600 |
TRIPHALANGEAL THUMB, NONOPPOSABLE |
| 190650 |
TRIPHALANGEAL THUMBS AND DISLOCATION OF PATELLA |
| 190680 |
TRIPHALANGEAL THUMBS WITH BRACHYECTRODACTYLY |
| 190685 |
DOWN SYNDROME TRISOMY 21, INCLUDED |
| 190800 |
TRISTICHIASIS |
| 190900 |
TRITANOPIA |
| 191000 |
TROCHLEA OF THE HUMERUS, APLASIA OF |
| 191100 |
TUBEROUS SCLEROSIS 1; TSC1 |
| 191150 |
TUFTSIN DEFICIENCY |
| 191200 |
TUNE DEAFNESS |
| 191390 |
INFLAMMATORY BOWEL DISEASE 11; IBD11 |
| 191400 |
ULNA AND FIBULA, HYPOPLASIA OF |
| 191420 |
ULNA METAPHYSEAL DYSPLASIA SYNDROME |
| 191440 |
ULNAR HYPOPLASIA |
| 191480 |
UNCOMBABLE HAIR SYNDROME |
| 191482 |
UNCOMBABLE HAIR, RETINAL PIGMENTARY DYSTROPHY, DENTAL ANOMALIES, AND BRACHYDACTYLY |
| 191500 |
UNDRITZ ANOMALY |
| 191520 |
UPINGTON DISEASE |
| 191540 |
URATE OXIDASE, PSEUDOGENE; UOX |
| 191550 |
URETER, BIFID OR DOUBLE |
| 191600 |
URETER, CANCER OF |
| 191650 |
URETEROCELE |
| 191700 |
UROLITHIASIS, URIC ACID, AUTOSOMAL DOMINANT |
| 191800 |
URINARY BLADDER, ATONY OF |
| 191830 |
RENAL ADYSPLASIA |
| 191850 |
URTICARIA, AQUAGENIC |
| 191900 |
MUCKLE-WELLS SYNDROME; MWS |
| 191950 |
URTICARIA, FAMILIAL LOCALIZED HEAT |
| 192000 |
UTERINE ANOMALIES |
| 192050 |
UTERUS BICORNIS BICOLLIS WITH PARTIAL VAGINAL SEPTUM AND UNILATERAL HEMATOCOLPOS WITH IPSILATERAL RENAL AGENESIS |
| 192100 |
UVULA, BIFID |
| 192200 |
VARICOSE VEINS |
| 192310 |
VASCULITIS, LYMPHOCYTIC, NODULAR |
| 192315 |
VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL |
| 192350 |
VATER ASSOCIATION VACTERL ASSOCIATION, INCLUDED |
| 192430 |
VELOCARDIOFACIAL SYNDROME |
| 192445 |
VENTRICULAR EXTRASYSTOLES WITH SYNCOPE, PERODACTYLY, AND ROBIN SEQUENCE |
| 192500 |
LONG QT SYNDROME 1; LQT1 |
| 192600 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1 |
| 192605 |
VENTRICULAR TACHYCARDIA, FAMILIAL |
| 192700 |
VENULAR INSUFFICIENCY, SYSTEMIC |
| 192800 |
VERTEBRAL FUSION, POSTERIOR LUMBOSACRAL, WITH BLEPHAROPTOSIS |
| 192900 |
VERTEBRAL HYPOPLASIA WITH LUMBAR KYPHOSIS |
| 192950 |
VERTICAL TALUS, CONGENITAL; CVT |
| 193000 |
VESICOURETERAL REFLUX 1; VUR1 |
| 193003 |
NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT; NYS4 |
| 193005 |
VESTIBULOCOCHLEAR DYSFUNCTION, PROGRESSIVE |
| 193007 |
VERTIGO, BENIGN RECURRENT; BRV |
| 193050 |
VIBRATORY ANGIOEDEMA |
| 193090 |
TRANSCOBALAMIN I DEFICIENCY |
| 193100 |
HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR |
| 193200 |
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6; VAMAS6 |
| 193220 |
VITREORETINOCHOROIDOPATHY; VRCP |
| 193230 |
VITREORETINAL DEGENERATION, SNOWFLAKE TYPE; SVD |
| 193235 |
VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY; VRNI |
| 193240 |
VOCAL CORD PARALYSIS AND PTOSIS |
| 193250 |
VOLVULUS OF MIDGUT |
| 193300 |
VON HIPPEL-LINDAU SYNDROME; VHL VON HIPPEL-LINDAU SYNDROME, MODIFIERS OF, INCLUDED |
| 193400 |
VON WILLEBRAND DISEASE, TYPE 1; VWD1 |
| 193450 |
VULVOVAGINITIS, ALLERGIC SEMINAL |
| 193500 |
WAARDENBURG SYNDROME, TYPE 1; WS1 |
| 193510 |
WAARDENBURG SYNDROME, TYPE 2A; WS2A |
| 193520 |
WATSON SYNDROME |
| 193530 |
WEYERS ACROFACIAL DYSOSTOSIS |
| 193670 |
WHIM SYNDROME |
| 193680 |
WHISPERING DYSPHONIA, HEREDITARY |
| 193700 |
ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A |
| 193900 |
WHITE SPONGE NEVUS; WSN |
| 194000 |
WIDOW'S PEAK |
| 194050 |
WILLIAMS-BEUREN SYNDROME; WBS |
| 194070 |
WILMS TUMOR 1; WT1 |
| 194071 |
WILMS TUMOR 2; WT2 |
| 194072 |
WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME; WAGR |
| 194080 |
DENYS-DRASH SYNDROME; DDS |
| 194090 |
WILMS TUMOR 3; WT3 |
| 194190 |
WOLF-HIRSCHHORN SYNDROME; WHS |
| 194200 |
WOLFF-PARKINSON-WHITE SYNDROME |
| 194300 |
WOOLLY HAIR, AUTOSOMAL DOMINANT; ADWH |
| 194320 |
WORONETS TRAIT |
| 194350 |
WT LIMB-BLOOD SYNDROME |
| 194380 |
DEHYDRATED HEREDITARY STOMATOCYTOSIS; DHS |
| 194400 |
XERODERMA PIGMENTOSUM, AUTOSOMAL DOMINANT, MILD |
| 200100 |
ABETALIPOPROTEINEMIA; ABL |
| 200110 |
ABLEPHARON-MACROSTOMIA SYNDROME |
| 200130 |
ABSENT EYEBROWS AND EYELASHES WITH MENTAL RETARDATION |
| 200150 |
CHOREOACANTHOCYTOSIS; CHAC |
| 200170 |
ACANTHOSIS NIGRICANS WITH MUSCLE CRAMPS AND ACRAL ENLARGEMENT |
| 200400 |
ACHALASIA, FAMILIAL ESOPHAGEAL |
| 200450 |
ACHALASIA-MICROCEPHALY SYNDROME |
| 200500 |
ACHEIROPODY |
| 200600 |
ACHONDROGENESIS, TYPE IA; ACG1A |
| 200610 |
ACHONDROGENESIS, TYPE II; ACG2 |
| 200700 |
CHONDRODYSPLASIA, GREBE TYPE |
| 200900 |
SHORT-LIMB SKELETAL DYSPLASIA WITH SEVERE COMBINED IMMUNODEFICIENCY |
| 200950 |
ACID PHOSPHATASE DEFICIENCY |
| 200970 |
ACKERMAN SYNDROME |
| 200980 |
ACRORENAL-MANDIBULAR SYNDROME |
| 200990 |
ACROCALLOSAL SYNDROME; ACLS |
| 200995 |
ACROCEPHALOPOLYDACTYLOUS DYSPLASIA |
| 201000 |
CARPENTER SYNDROME |
| 201020 |
ACROCEPHALOPOLYSYNDACTYLY TYPE IV |
| 201050 |
ACROCRANIOFACIAL DYSOSTOSIS |
| 201100 |
ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ |
| 201170 |
ACROFACIAL DYSOSTOSIS SYNDROME OF RODRIGUEZ |
| 201250 |
ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE |
| 201300 |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA; HSAN2A |
| 201310 |
ACRORENAL SYNDROME, AUTOSOMAL RECESSIVE |
| 201400 |
ACTH DEFICIENCY, ISOLATED; IAD |
| 201450 |
ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD |
| 201470 |
ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; ACADSD |
| 201475 |
ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD |
| 201550 |
ADDUCTED THUMBS SYNDROME |
| 201710 |
LIPOID CONGENITAL ADRENAL HYPERPLASIA; LCAH |
| 201750 |
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS; ABS1 |
| 201910 |
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY |
| 202010 |
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY |
| 202110 |
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY |
| 202150 |
ADRENAL HYPOPLASIA, CONGENITAL, WITH ABSENT PITUITARY LUTEINIZING HORMONE |
| 202155 |
ADRENAL HYPOPLASIA, CYTOMEGALIC TYPE |
| 202200 |
GLUCOCORTICOID DEFICIENCY 1; GCCD1 |
| 202300 |
ADRENOCORTICAL CARCINOMA, HEREDITARY; ADCC ADRENOCORTICAL CARCINOMA, PEDIATRIC, INCLUDED |
| 202355 |
ADRENOCORTICAL UNRESPONSIVENESS TO ACTH WITH POSTRECEPTOR DEFECT |
| 202370 |
ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM |
| 202400 |
AFIBRINOGENEMIA, CONGENITAL HYPOFIBRINOGENEMIA, CONGENITAL, INCLUDED |
| 202550 |
AGANGLIONOSIS, TOTAL INTESTINAL |
| 202600 |
AGENESIS OF CEREBRAL WHITE MATTER |
| 202650 |
AGNATHIA-OTOCEPHALY COMPLEX; AGOTC |
| 202700 |
NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT; SCN1 |
| 202900 |
ALANINURIA WITH MICROCEPHALY, DWARFISM, ENAMEL HYPOPLASIA, AND DIABETES MELLITUS |
| 203000 |
FRONTONASAL DYSPLASIA WITH ALAR CLEFTS |
| 203100 |
ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A |
| 203200 |
ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2 |
| 203290 |
ALBINISM, OCULOCUTANEOUS, TYPE III; OCA3 |
| 203300 |
HERMANSKY-PUDLAK SYNDROME 1; HPS1 |
| 203330 |
PSEUDOHYPOPARATHYROIDISM, TYPE II; PHP2 |
| 203400 |
CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY |
| 203450 |
ALEXANDER DISEASE |
| 203500 |
ALKAPTONURIA |
| 203550 |
ALOPECIA-CONTRACTURES-DWARFISM MENTAL RETARDATION SYNDROME |
| 203600 |
ALOPECIA-EPILEPSY-OLIGOPHRENIA SYNDROME OF MOYNAHAN |
| 203650 |
ALOPECIA-MENTAL RETARDATION SYNDROME 1; APMR1 |
| 203655 |
ALOPECIA UNIVERSALIS CONGENITA; ALUNC |
| 203700 |
MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE); MTDPS4A |
| 203740 |
ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY |
| 203750 |
ALPHA-METHYLACETOACETIC ACIDURIA |
| 203760 |
ALPHA-2-DEFICIENT COLLAGEN DISEASE |
| 203780 |
ALPORT SYNDROME, AUTOSOMAL RECESSIVE |
| 203800 |
ALSTROM SYNDROME; ALMS |
| 204000 |
LEBER CONGENITAL AMAUROSIS 1; LCA1 |
| 204100 |
LEBER CONGENITAL AMAUROSIS 2; LCA2 |
| 204110 |
AMAUROSIS CONGENITA, CONE-ROD TYPE, WITH CONGENITAL HYPERTRICHOSIS |
| 204200 |
CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3 |
| 204300 |
CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE; CLN4A |
| 204500 |
CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2 |
| 204650 |
AMELOGENESIS IMPERFECTA, TYPE IC; AI1C |
| 204690 |
ENAMEL-RENAL SYNDROME; ERS |
| 204700 |
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA1; AI2A1 |
| 204730 |
AMINO ACIDURIA WITH MENTAL DEFICIENCY, DWARFISM, MUSCULAR DYSTROPHY, OSTEOPOROSIS, AND ACIDOSIS |
| 204750 |
AMINOADIPIC ACIDURIA |
| 204850 |
AMYLOIDOSIS OF GINGIVA AND CONJUNCTIVA, WITH MENTAL RETARDATION |
| 204870 |
CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE; GDLD |
| 204900 |
AMYLOIDOSIS, CUTANEOUS BULLOUS |
| 205000 |
AMYOTONIA CONGENITA |
| 205100 |
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2 |
| 205200 |
AMYOTROPHIC LATERAL SCLEROSIS, JUVENILE, WITH DEMENTIA |
| 205250 |
AMYOTROPHIC LATERAL SCLEROSIS WITH POLYGLUCOSAN BODIES |
| 205400 |
TANGIER DISEASE; TGD |
| 205700 |
ANEMIA, AUTOIMMUNE HEMOLYTIC |
| 205950 |
ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE |
| 206000 |
ANEMIA, SIDEROBLASTIC, PYRIDOXINE-RESPONSIVE, AUTOSOMAL RECESSIVE |
| 206100 |
ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD |
| 206200 |
IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA |
| 206300 |
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, ASSOCIATED WITH ABNORMALITY OF RED CELL MEMBRANE |
| 206400 |
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, POSSIBLY DUE TO DEFECT IN PORPHYRIN METABOLISM |
| 206500 |
ANENCEPHALY |
| 206550 |
ANGIOLIPOMATOSIS, FAMILIAL |
| 206570 |
ANGIOMATOSIS, DIFFUSE CORTICOMENINGEAL, OF DIVRY AND VAN BOGAERT |
| 206600 |
ANHIDROSIS |
| 206700 |
ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL RETARDATION |
| 206750 |
ANIRIDIA, PARTIAL, WITH UNILATERAL RENAL AGENESIS AND PSYCHOMOTOR RETARDATION |
| 206780 |
ANODONTIA OF PERMANENT DENTITION |
| 206800 |
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4; NDNC4 |
| 206900 |
MICROPHTHALMIA, SYNDROMIC 3; MCOPS3 |
| 206920 |
MICROPHTHALMIA WITH LIMB ANOMALIES |
| 207000 |
ANOSMIA FOR ISOBUTYRIC ACID |
| 207300 |
ANTITHROMBIN, FAMILIAL HEMORRHAGIC DIATHESIS DUE TO |
| 207410 |
ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2 |
| 207500 |
ANUS, IMPERFORATE |
| 207600 |
TAKAYASU ARTERITIS |
| 207620 |
APHALANGY WITH HEMIVERTEBRAE |
| 207720 |
APNEA, CENTRAL SLEEP |
| 207731 |
APLASIA CUTIS CONGENITA WITH INTESTINAL LYMPHANGIECTASIA |
| 207740 |
APLASIA OF EXTENSOR MUSCLES OF FINGERS, UNILATERAL, WITH GENERALIZED POLYNEUROPATHY |
| 207750 |
APOLIPOPROTEIN C-II DEFICIENCY |
| 207770 |
APROSENCEPHALY SYNDROME |
| 207780 |
AREDYLD |
| 207790 |
ARACHNOID CYSTS, INTRACRANIAL |
| 207800 |
ARGININEMIA |
| 207900 |
ARGININOSUCCINIC ACIDURIA |
| 207950 |
CHIARI MALFORMATION TYPE II |
| 208000 |
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1 |
| 208050 |
ARTERIAL TORTUOSITY SYNDROME; ATS |
| 208060 |
ARTERIOSCLEROSIS, SEVERE JUVENILE |
| 208080 |
ARTHROGRYPOSIS, DISTAL, WITH HYPOPITUITARISM, MENTAL RETARDATION, AND FACIAL ANOMALIES |
| 208081 |
ARTHROGRYPOSIS, DISTAL, WITH MENTAL RETARDATION AND CHARACTERISTIC FACIES |
| 208085 |
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1; ARCS1 |
| 208100 |
ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC TYPE; AMCN |
| 208150 |
FETAL AKINESIA DEFORMATION SEQUENCE; FADS |
| 208155 |
ILLUM SYNDROME |
| 208200 |
ARTHROGRYPOSIS-LIKE DISORDER |
| 208230 |
ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD; PPAC |
| 208250 |
CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME; CACP |
| 208300 |
ASCITES, CHYLOUS |
| 208400 |
ASPARTYLGLUCOSAMINURIA; AGU |
| 208500 |
ASPHYXIATING THORACIC DYSTROPHY 1; ATD1 |
| 208530 |
ASPLENIA WITH CARDIOVASCULAR ANOMALIES |
| 208540 |
RENAL-HEPATIC-PANCREATIC DYSPLASIA; RHPD |
| 208550 |
ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE |
| 208600 |
ASTHMA, SHORT STATURE, AND ELEVATED IgA |
| 208700 |
ATAXIA WITH MYOCLONIC EPILEPSY AND PRESENILE DEMENTIA |
| 208750 |
ATAXIA, DEAFNESS, AND CARDIOMYOPATHY |
| 208850 |
ATAXIA-DEAFNESS-RETARDATION SYNDROME |
| 208870 |
ATAXIA-MICROCEPHALY-CATARACT SYNDROME |
| 208900 |
ATAXIA-TELANGIECTASIA; AT |
| 208910 |
ATAXIA-TELANGIECTASIA WITH GENERALIZED SKIN PIGMENTATION AND EARLY DEATH |
| 208920 |
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH |
| 209010 |
ATHEROSCLEROSIS, PREMATURE, WITH DEAFNESS, NEPHROPATHY, DIABETES MELLITUS, PHOTOMYOCLONUS, AND DEGENERATIVE NEUROLOGIC DISEASE |
| 209050 |
ATHROMBIA, ESSENTIAL |
| 209100 |
ATONIC-ASTATIC SYNDROME OF FOERSTER |
| 209300 |
ATRANSFERRINEMIA |
| 209500 |
ATRICHIA WITH PAPULAR LESIONS; APL |
| 209600 |
ATRIOVENTRICULAR DISSOCIATION |
| 209700 |
ATROPHODERMIA VERMICULATA |
| 209770 |
AURAL ATRESIA, MULTIPLE CONGENITAL ANOMALIES, AND MENTAL RETARDATION |
| 209800 |
AUSTRALIA ANTIGEN |
| 209850 |
AUTISM |
| 209880 |
CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS |
| 209900 |
BARDET-BIEDL SYNDROME; BBS BARDET-BIEDL SYNDROME 1, INCLUDED; BBS1, INCLUDED |
| 209920 |
BARE LYMPHOCYTE SYNDROME, TYPE II |
| 209950 |
ATYPICAL MYCOBACTERIOSIS, FAMILIAL |
| 209970 |
BEEMER LETHAL MALFORMATION SYNDROME |
| 210000 |
BEHR SYNDROME |
| 210050 |
BERRY ANEURYSM, CIRRHOSIS, PULMONARY EMPHYSEMA, AND CEREBRAL CALCIFICATION |
| 210100 |
BETA-AMINOISOBUTYRIC ACID, URINARY EXCRETION OF |
| 210200 |
3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY |
| 210210 |
3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY |
| 210250 |
SITOSTEROLEMIA |
| 210350 |
BIEMOND SYNDROME II |
| 210370 |
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY |
| 210400 |
BIFID NOSE, AUTOSOMAL RECESSIVE |
| 210500 |
BILIARY ATRESIA, EXTRAHEPATIC; EHBA |
| 210550 |
BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY |
| 210600 |
SECKEL SYNDROME 1; SCKL1 |
| 210700 |
MICROCEPHALIC PRIMORDIAL DWARFISM, MONTREAL TYPE |
| 210710 |
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I; MOPD1 |
| 210720 |
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2 |
| 210730 |
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III |
| 210740 |
BANGSTAD SYNDROME |
| 210745 |
BLEPHAROPHIMOSIS WITH PTOSIS, SYNDACTYLY, AND SHORT STATURE |
| 210750 |
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 6; SHEP6 |
| 210900 |
BLOOM SYNDROME; BLM |
| 211000 |
BLUE DIAPER SYNDROME |
| 211120 |
BONE DYSPLASIA, LETHAL, HOLMGREN TYPE |
| 211170 |
BORRONE DERMATOCARDIOSKELETAL SYNDROME |
| 211180 |
BOWEN-CONRADI SYNDROME; BWCNS |
| 211200 |
BOWEN SYNDROME OF MULTIPLE MALFORMATIONS |
| 211350 |
KYPHOMELIC DYSPLASIA |
| 211369 |
BRACHYDACTYLY, TYPE A2, WITH MICROCEPHALY |
| 211370 |
BRACHYMETAPODY-ANODONTIA-HYPOTRICHOSIS-ALBINOIDISM |
| 211380 |
BRACHIOSKELETOGENITAL SYNDROME |
| 211390 |
SABINAS BRITTLE HAIR SYNDROME |
| 211400 |
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1; BESC1 |
| 211480 |
BUERGER DISEASE |
| 211500 |
FAZIO-LONDE DISEASE |
| 211530 |
BROWN-VIALETTO-VAN LAERE SYNDROME 1; BVVLS1 |
| 211600 |
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1 |
| 211750 |
C SYNDROME |
| 211770 |
CAHMR SYNDROME |
| 211800 |
CALCIFICATION OF JOINTS AND ARTERIES; CALJA |
| 211890 |
CAMPOMELIA, CUMMING TYPE |
| 211900 |
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL; HFTC |
| 211910 |
CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I; GCS1 |
| 211920 |
CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE II |
| 211930 |
CAMPTODACTYLY WITH FIBROUS TISSUE HYPERPLASIA AND SKELETAL DYSPLASIA |
| 211960 |
CAMPTODACTYLY WITH MUSCULAR HYPOPLASIA, SKELETAL DYSPLASIA, AND ABNORMAL PALMAR CREASES |
| 211980 |
LUNG CANCER ALVEOLAR CELL CARCINOMA, INCLUDED |
| 211990 |
CAMPTOMELIC SYNDROME, LONG-LIMB TYPE |
| 212050 |
CANDIDIASIS, FAMILIAL, 2; CANDF2 |
| 212060 |
CARBIMAZOLE SENSITIVITY |
| 212065 |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A |
| 212066 |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; CDG2A |
| 212067 |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE I/IIx |
| 212070 |
CARBOXYPEPTIDASE N DEFICIENCY |
| 212080 |
CARDIAC LIPIDOSIS, FAMILIAL |
| 212090 |
CARDIAC SEPTAL DEFECTS WITH COARCTATION OF THE AORTA |
| 212093 |
CARDIAC VALVULAR DEFECT, DEVELOPMENTAL |
| 212100 |
CARDIOAUDITORY SYNDROME OF SANCHEZ CASCOS |
| 212112 |
CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM |
| 212130 |
CARDIOMYOPATHY ASSOCIATED WITH MYOPATHY AND SUDDEN DEATH |
| 212135 |
CARDIOSKELETAL SYNDROME, KUWAITI TYPE |
| 212138 |
CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY |
| 212140 |
CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP |
| 212160 |
CARNITINE DEFICIENCY, MYOPATHIC |
| 212200 |
CARNOSINEMIA |
| 212350 |
SENGERS SYNDROME |
| 212360 |
PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA, AUTOSOMAL RECESSIVE |
| 212400 |
CATARACT AND CONGENITAL ICHTHYOSIS |
| 212500 |
CATARACT, CONGENITAL OR JUVENILE CATARACT, JUVENILE, HUTTERITE TYPE, INCLUDED |
| 212540 |
CATARACT, MICROCEPHALY, FAILURE TO THRIVE, KYPHOSCOLIOSIS SYNDROME |
| 212550 |
MICROPHTHALMIA, ISOLATED, WITH CATARACT 2; MCOPCT2 |
| 212710 |
CATARACT-ATAXIA-DEAFNESS-RETARDATION SYNDROME |
| 212720 |
MARTSOLF SYNDROME |
| 212750 |
CELIAC DISEASE; CD |
| 212780 |
CENANI-LENZ SYNDACTYLY SYNDROME; CLSS |
| 212800 |
CEPHALIN LIPIDOSIS |
| 212835 |
CEREBELLAR ATAXIA AND ECTODERMAL DYSPLASIA |
| 212840 |
CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM |
| 212850 |
CEREBELLAR ATAXIA AND NEUROSENSORY DEAFNESS |
| 212890 |
CEREBELLAR ATAXIA, BENIGN, WITH THERMOANALGESIA |
| 213000 |
CEREBELLAR HYPOPLASIA |
| 213002 |
CEREBELLAR HYPOPLASIA WITH ENDOSTEAL SCLEROSIS |
| 213010 |
CEREBELLAR VERMIS APLASIA WITH ASSOCIATED FEATURES SUGGESTING SMITH-LEMLI-OPITZ SYNDROME AND MECKEL SYNDROME |
| 213100 |
CEREBELLOPARENCHYMAL DISORDER II; CPD2 |
| 213200 |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2; SCAR2 |
| 213300 |
JOUBERT SYNDROME; JBTS |
| 213400 |
CEREBELLOPARENCHYMAL DISORDER V; CPD5 |
| 213600 |
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1; IBGC1 |
| 213700 |
CEREBROTENDINOUS XANTHOMATOSIS; CTX |
| 213950 |
CEREBROCORTICAL DEGENERATION OF INFANCY |
| 213980 |
CEREBROFACIOTHORACIC DYSPLASIA |
| 214100 |
ZELLWEGER SYNDROME; ZS |
| 214110 |
CEREBROHEPATORENAL SYNDROME, VARIANT TYPES |
| 214150 |
CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1 |
| 214200 |
CEROID STORAGE DISEASE |
| 214290 |
CERVICAL VERTEBRAE, AGENESIS OF |
| 214300 |
KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE; KFS2 |
| 214350 |
CHANDS |
| 214370 |
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, MENTAL RETARDATION, AND ABSENT SENSORY LARGE MYELINATED FIBERS |
| 214400 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A |
| 214450 |
GRISCELLI SYNDROME, TYPE 1; GS1 |
| 214500 |
CHEDIAK-HIGASHI SYNDROME; CHS |
| 214700 |
DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL; DIAR1 |
| 214800 |
CHARGE SYNDROME |
| 214900 |
CHOLESTASIS-LYMPHEDEMA SYNDROME |
| 214950 |
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; CBAS4 |
| 214980 |
CHOLESTASIS WITH GALLSTONE, ATAXIA, AND VISUAL DISTURBANCE |
| 215030 |
CHOLESTEROL PNEUMONIA |
| 215045 |
CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD |
| 215050 |
CHONDRODYSPLASIA CALCIFICANS METAPHYSEALIS |
| 215100 |
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1 |
| 215140 |
HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA |
| 215150 |
OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; OSMED |
| 215250 |
CHONDROITIN-6-SULFATURIA, DEFECTIVE CELLULAR IMMUNITY, NEPHROTIC SYNDROME |
| 215400 |
CHORDOMA, SUSCEPTIBILITY TO; CHDM |
| 215450 |
CHOREA, BENIGN FAMILIAL |
| 215470 |
CHORIORETINAL DYSTROPHY, SPINOCEREBELLAR ATAXIA, AND HYPOGONADOTROPIC HYPOGONADISM |
| 215480 |
CHOROID PLEXUS CALCIFICATION AND MENTAL RETARDATION |
| 215500 |
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 1; CACD1 |
| 215510 |
CHROMOSOMAL INSTABILITY WITH TISSUE-SPECIFIC RADIOSENSITIVITY |
| 215518 |
CILIARY DISCOORDINATION DUE TO RANDOM CILIARY ORIENTATION |
| 215520 |
CILIARY DYSKINESIA WITH TRANSPOSITION OF CILIARY MICROTUBULES |
| 215550 |
CIRCUMVALLATE PLACENTA SYNDROME |
| 215600 |
CIRRHOSIS, FAMILIAL CIRRHOSIS, FAMILIAL, WITH PULMONARY HYPERTENSION, INCLUDED |
| 215700 |
CITRULLINEMIA, CLASSIC |
| 215720 |
CITRULLINE TRANSPORT DEFECT |
| 215800 |
CLEFT LARYNX, POSTERIOR STRIDOR, CONGENITAL, INCLUDED |
| 215850 |
CLEFT-LIMB-HEART MALFORMATION SYNDROME |
| 216100 |
CLEFT LIP/PALATE WITH ABNORMAL THUMBS AND MICROCEPHALY |
| 216300 |
CLEFT PALATE, DEAFNESS, AND OLIGODONTIA |
| 216330 |
CLEIDOCRANIAL DYSPLASIA, RECESSIVE FORM |
| 216340 |
CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA |
| 216360 |
COACH SYNDROME |
| 216400 |
COCKAYNE SYNDROME, TYPE A; CSA |
| 216411 |
COCKAYNE SYNDROME, TYPE III |
| 216550 |
COHEN SYNDROME; COH1 |
| 216700 |
COLLAGENOSIS, FAMILIAL REACTIVE PERFORATING; RPC |
| 216800 |
COLOBOMA OF MACULA AND SKELETAL ANOMALIES |
| 216820 |
COLOBOMA, OCULAR |
| 216900 |
ACHROMATOPSIA 2; ACHM2 |
| 216920 |
COMBINED INFLAMMATORY AND IMMUNOLOGIC DEFECT |
| 216950 |
COMPLEMENT COMPONENT C1r/C1s DEFICIENCY |
| 217000 |
COMPLEMENT COMPONENT 2 DEFICIENCY; C2D |
| 217080 |
JALILI SYNDROME |
| 217085 |
CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY |
| 217090 |
PLASMINOGEN DEFICIENCY, TYPE I LIGNEOUS CONJUNCTIVITIS, INCLUDED |
| 217095 |
CONOTRUNCAL HEART MALFORMATIONS; CTHM TRUNCUS ARTERIOSUS COMMUNIS, INCLUDED |
| 217100 |
CONSTRICTING BANDS, CONGENITAL |
| 217150 |
CONTRACTURES, CONGENITAL, TORTICOLLIS, AND MALIGNANT HYPERTHERMIA |
| 217200 |
CONVULSIVE DISORDER, FAMILIAL, WITH PRENATAL OR EARLY ONSET |
| 217300 |
CORNEA PLANA 2; CNA2 |
| 217400 |
CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS |
| 217500 |
CORNEAL DYSTROPHY, BAND-SHAPED |
| 217520 |
CORNEAL DEGENERATION, BAND-SHAPED SPHEROID |
| 217600 |
CENTRAL CLOUDY DYSTROPHY OF FRANCOIS; CCDF |
| 217700 |
CORNEAL ENDOTHELIAL DYSTROPHY 2, AUTOSOMAL RECESSIVE; CHED2 |
| 217800 |
MACULAR DYSTROPHY, CORNEAL, 1; MCDC1 |
| 217980 |
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE |
| 217990 |
CORPUS CALLOSUM, AGENESIS OF |
| 218000 |
AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN |
| 218010 |
CORTICAL BLINDNESS, RETARDATION, AND POSTAXIAL POLYDACTYLY |
| 218030 |
APPARENT MINERALOCORTICOID EXCESS; AME |
| 218040 |
COSTELLO SYNDROME |
| 218050 |
CRAMPS, FAMILIAL ADOLESCENT |
| 218100 |
CRANIAL NERVES, CONGENITAL PARESIS OF |
| 218200 |
CRANIAL NERVES, RECURRENT PARESIS OF |
| 218300 |
CRANIODIAPHYSEAL DYSPLASIA; CDD |
| 218330 |
CRANIOECTODERMAL DYSPLASIA 1; CED1 |
| 218340 |
CRANIOFACIAL DYSMORPHISM WITH OCULAR COLOBOMA, ABSENT CORPUS CALLOSUM, AND AORTIC DILATATION |
| 218400 |
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE; CMDR |
| 218450 |
CRANIOSTENOSIS, SAGITTAL, WITH CONGENITAL HEART DISEASE, MENTAL DEFICIENCY, AND MANDIBULAR ANKYLOSIS |
| 218530 |
CRANIOSYNOSTOSIS WITH ANOMALIES OF THE CRANIAL BASE AND DIGITS |
| 218550 |
CRANIOSYNOSTOSIS WITH FIBULAR APLASIA |
| 218600 |
BALLER-GEROLD SYNDROME; BGS |
| 218649 |
CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG |
| 218650 |
CRANIOSYNOSTOSIS-MENTAL RETARDATION-CLEFTING SYNDROME |
| 218670 |
CRANIOTELENCEPHALIC DYSPLASIA |
| 218700 |
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2 |
| 218800 |
CRIGLER-NAJJAR SYNDROME, TYPE I |
| 218900 |
CROME SYNDROME |
| 219000 |
FRASER SYNDROME |
| 219050 |
CRYPTORCHIDISM, UNILATERAL OR BILATERAL |
| 219070 |
CURVED NAIL OF FOURTH TOE |
| 219080 |
ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH |
| 219090 |
PITUITARY ADENOMA, ACTH-SECRETING |
| 219095 |
CUTANEOUS PHOTOSENSITIVITY AND COLITIS, LETHAL |
| 219100 |
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA; ARCL1A |
| 219150 |
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A |
| 219200 |
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A |
| 219250 |
CUTIS MARMORATA TELANGIECTATICA CONGENITA; CMTC |
| 219300 |
CUTIS VERTICIS GYRATA AND MENTAL RETARDATION; CVG/MR |
| 219400 |
CYANOSIS AND HEPATIC DISEASE |
| 219500 |
CYSTATHIONINURIA |
| 219550 |
CYSTEINE PEPTIDURIA |
| 219600 |
CYSTIC DISEASE OF LUNG |
| 219700 |
CYSTIC FIBROSIS; CF |
| 219721 |
CYSTIC FIBROSIS WITH HELICOBACTER PYLORI GASTRITIS, MEGALOBLASTIC ANEMIA, AND SUBNORMAL MENTALITY |
| 219730 |
VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE |
| 219750 |
CYSTINOSIS, ADULT NONNEPHROPATHIC |
| 219800 |
CYSTINOSIS, NEPHROPATHIC; CTNS |
| 219900 |
CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE |
| 220100 |
CYSTINURIA |
| 220110 |
MITOCHONDRIAL COMPLEX IV DEFICIENCY |
| 220111 |
LEIGH SYNDROME, FRENCH CANADIAN TYPE; LSFC |
| 220120 |
D-GLYCERIC ACIDURIA |
| 220150 |
HYPOURICEMIA, RENAL, 1; RHUC1 |
| 220200 |
DANDY-WALKER SYNDROME; DWS DANDY-WALKER MALFORMATION, INCLUDED; DWM, INCLUDED |
| 220210 |
DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT |
| 220219 |
DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, AND BRACHYTELEPHALANGY |
| 220220 |
DANDY-WALKER MALFORMATION WITH POSTAXIAL POLYDACTYLY |
| 220300 |
DEAFNESS, CONGENITAL, AND FAMILIAL MYOCLONIC EPILEPSY |
| 220400 |
JERVELL AND LANGE-NIELSEN SYNDROME 1; JLNS1 |
| 220500 |
DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, AND MENTAL RETARDATION SYNDROME |
| 220700 |
DEAFNESS, AUTOSOMAL RECESSIVE |
| 220900 |
DEAFNESS, CONGENITAL, WITH TOTAL ALBINISM |
| 221200 |
DEAFNESS, COCHLEAR, WITH MYOPIA AND INTELLECTUAL IMPAIRMENT |
| 221300 |
DEAFNESS, CONDUCTIVE, WITH MALFORMED EXTERNAL EAR |
| 221320 |
DEAFNESS, CONDUCTIVE, WITH PTOSIS AND SKELETAL ANOMALIES |
| 221350 |
DEAFNESS, CONGENITAL, WITH VITILIGO AND ACHALASIA |
| 221400 |
DEAFNESS, NERVE TYPE, WITH MESENTERIC DIVERTICULA OF SMALL BOWEL AND PROGRESSIVE SENSORY NEUROPATHY |
| 221500 |
DEAFNESS, NEURAL, CONGENITAL MODERATE |
| 221700 |
DEAFNESS, NEURAL, WITH ATYPICAL ATOPIC DERMATITIS |
| 221740 |
DEAFNESS-OLIGODONTIA SYNDROME |
| 221745 |
DEAFNESS, SENSORINEURAL, AUTOSOMAL-MITOCHONDRIAL TYPE |
| 221750 |
PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3 |
| 221760 |
DERMATOGLYPHICS--PALMAR TRIRADIUS d, ABSENCE OF |
| 221770 |
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY; PLOSL |
| 221780 |
DERMATOGLYPHICS--HYPOTHENAR RADIAL ARCH |
| 221790 |
DERMATOLEUKODYSTROPHY |
| 221800 |
DERMOCHONDROCORNEAL DYSTROPHY |
| 221810 |
DERMATOOSTEOLYSIS, KIRGHIZIAN TYPE |
| 221820 |
LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS; HDLS |
| 221900 |
RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL; RNANC |
| 221950 |
DEXTROCARDIA WITH UNUSUAL FACIES AND MICROPHTHALMIA |
| 222100 |
DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM |
| 222300 |
WOLFRAM SYNDROME 1; WFS1 |
| 222350 |
DIAMINOPENTANURIA |
| 222400 |
DIAPHRAGMATIC HERNIA 2; DIH2 |
| 222448 |
DONNAI-BARROW SYNDROME |
| 222470 |
TRICHOHEPATOENTERIC SYNDROME 1; THES1 |
| 222600 |
DIASTROPHIC DYSPLASIA |
| 222690 |
DIBASIC AMINO ACIDURIA I |
| 222700 |
LYSINURIC PROTEIN INTOLERANCE; LPI |
| 222730 |
DICARBOXYLICAMINO ACIDURIA |
| 222748 |
DIHYDROPYRIMIDINASE DEFICIENCY |
| 222765 |
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2; RCDP2 |
| 222800 |
BISPHOSPHOGLYCERATE MUTASE DEFICIENCY |
| 222900 |
SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID |
| 223000 |
LACTASE DEFICIENCY, CONGENITAL |
| 223100 |
LACTOSE INTOLERANCE, ADULT TYPE |
| 223200 |
DISORGANIZATION, MOUSE, HOMOLOG OF |
| 223320 |
DIVERTICULOSIS, SMALL-INTESTINAL |
| 223330 |
DIVERTICULOSIS OF BOWEL, HERNIA, AND RETINAL DETACHMENT |
| 223340 |
DK PHOCOMELIA SYNDROME |
| 223350 |
DOHLE BODIES AND LEUKEMIA |
| 223360 |
DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL |
| 223370 |
DUBOWITZ SYNDROME |
| 223400 |
DUODENAL ATRESIA |
| 223500 |
DWARFISM, LOW-BIRTH-WEIGHT TYPE, WITH UNRESPONSIVENESS TO GROWTH HORMONE |
| 223540 |
DWARFISM, MENTAL RETARDATION, AND EYE ABNORMALITY |
| 223550 |
DWARFISM, PROPORTIONATE, WITH HIP DISLOCATION |
| 223800 |
DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC |
| 223900 |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 |
| 224000 |
DYSAUTONOMIA-LIKE DISORDER |
| 224050 |
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1 |
| 224100 |
ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; CDAN2 |
| 224120 |
ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE I; CDAN1 |
| 224230 |
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 1; DKCB1 |
| 224250 |
DYSMYELINATION WITH JAUNDICE |
| 224300 |
DYSOSTEOSCLEROSIS |
| 224400 |
DYSSEGMENTAL DYSPLASIA, ROLLAND-DESBUQUOIS TYPE |
| 224410 |
DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE; DDSH |
| 224500 |
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE; DYT2 |
| 224550 |
DYSTONIA WITH RINGBINDEN |
| 224690 |
MEIER-GORLIN SYNDROME 1; MGORS1 |
| 224700 |
EBSTEIN ANOMALY |
| 224750 |
SCHOPF-SCHULZ-PASSARGE SYNDROME; SSPS |
| 224800 |
ECTODERMAL DYSPLASIA AND NEUROSENSORY DEAFNESS |
| 224900 |
ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL RECESSIVE |
| 225000 |
ROSSELLI-GULIENETTI SYNDROME |
| 225040 |
ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND AGENESIS OF THE CORPUS CALLOSUM |
| 225050 |
ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND CILIARY DYSKINESIA |
| 225060 |
CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME; CLPED1 |
| 225100 |
ECTOPIA LENTIS, ISOLATED, AUTOSOMAL RECESSIVE; ECTOL2 |
| 225200 |
ECTOPIA LENTIS ET PUPILLAE |
| 225250 |
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5; CHNG5 |
| 225280 |
EEM SYNDROME |
| 225290 |
ECTRODACTYLY-POLYDACTYLY |
| 225300 |
SPLIT-HAND/FOOT MALFORMATION 6; SHFM6 |
| 225310 |
EHLERS-DANLOS SYNDROME WITH PLATELET DYSFUNCTION FROM FIBRONECTIN ABNORMALITY |
| 225320 |
EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM |
| 225400 |
EHLERS-DANLOS SYNDROME, TYPE VI; EDS6 |
| 225410 |
EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE |
| 225450 |
ELLIPTOCYTOSIS, ATYPICAL |
| 225500 |
ELLIS-VAN CREVELD SYNDROME; EVC |
| 225700 |
ENCEPHALOMALACIA, MULTILOCULAR |
| 225740 |
ENCEPHALOPATHY, AXONAL, WITH NECROTIZING MYOPATHY, CARDIOMYOPATHY, AND CATARACTS |
| 225750 |
AICARDI-GOUTIERES SYNDROME 1; AGS1 |
| 225753 |
PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4 |
| 225755 |
ENCEPHALOPATHY WITH INTRACRANIAL CALCIFICATION, GROWTH HORMONE DEFICIENCY, MICROCEPHALY, AND RETINAL DEGENERATION |
| 225790 |
PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME; PVHH |
| 226000 |
ENDOCARDIAL FIBROELASTOSIS; EFE |
| 226100 |
ENDOCARDIAL FIBROELASTOSIS AND COARCTATION OF ABDOMINAL AORTA |
| 226150 |
ENTEROCOLITIS |
| 226200 |
ENTEROKINASE DEFICIENCY |
| 226300 |
ENTEROPATHY, PROTEIN-LOSING |
| 226350 |
EOSINOPHILIC FASCIITIS |
| 226400 |
EPIDERMODYSPLASIA VERRUCIFORMIS; EV |
| 226440 |
EPIDERMOLYSIS BULLOSA, LATE-ONSET LOCALIZED JUNCTIONAL, WITH MENTAL RETARDATION |
| 226500 |
EPIDERMOLYSIS BULLOSA DYSTROPHICA NEUROTROPHICA |
| 226600 |
EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE; RDEB |
| 226650 |
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE |
| 226670 |
EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY |
| 226700 |
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE |
| 226730 |
EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA |
| 226735 |
EPIDERMOLYSIS BULLOSA WITH DIAPHRAGMATIC HERNIA |
| 226750 |
KOHLSCHUTTER-TONZ SYNDROME; KTZS |
| 226800 |
EPILEPSY, PHOTOGENIC, WITH SPASTIC DIPLEGIA AND MENTAL RETARDATION |
| 226850 |
EPILEPSY-TELANGIECTASIA |
| 226900 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4; EDM4 |
| 226950 |
EPIPHYSEAL DYSPLASIA OF FEMORAL HEAD, MYOPIA, AND DEAFNESS |
| 226960 |
EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS |
| 226980 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS |
| 226990 |
EPSTEIN-BARR VIRUS, SUSCEPTIBILITY TO CHRONIC INFECTION BY |
| 227000 |
ERYTHEMA OF ACRAL REGIONS |
| 227010 |
ERMINE PHENOTYPE |
| 227050 |
TRANSIENT ERYTHROBLASTOPENIA OF CHILDHOOD; TEC |
| 227090 |
ERYTHRODERMA, LETHAL CONGENITAL |
| 227150 |
ETHANOLAMINOSIS |
| 227200 |
EUNUCHOIDISM, FAMILIAL HYPOGONADOTROPIC |
| 227210 |
EYEBROWS, DUPLICATION OF, WITH STRETCHABLE SKIN AND SYNDACTYLY |
| 227220 |
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1 |
| 227240 |
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5; SHEP5 |
| 227250 |
FACIAL ABNORMALITIES, KYPHOSCOLIOSIS, AND MENTAL RETARDATION |
| 227255 |
FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS |
| 227260 |
SETLEIS SYNDROME |
| 227270 |
FACIOCARDIOMELIC DYSPLASIA, LETHAL |
| 227280 |
FACIOCARDIORENAL SYNDROME |
| 227300 |
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1; F5F8D1 |
| 227310 |
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, WITH NORMAL PROTEIN C AND PROTEIN C INHIBITOR |
| 227320 |
FACIOTHORACOGENITAL SYNDROME |
| 227330 |
FACIODIGITOGENITAL SYNDROME, RECESSIVE |
| 227400 |
FACTOR V DEFICIENCY |
| 227500 |
FACTOR VII DEFICIENCY |
| 227600 |
FACTOR X DEFICIENCY |
| 227645 |
FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC |
| 227646 |
FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2 |
| 227650 |
FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA |
| 227810 |
FANCONI-BICKEL SYNDROME; FBS |
| 227850 |
FANCONI-LIKE SYNDROME |
| 228000 |
FARBER LIPOGRANULOMATOSIS |
| 228020 |
FASCIAL DYSTROPHY, CONGENITAL |
| 228100 |
VISCERAL STEATOSIS, CONGENITAL |
| 228250 |
FEMUR, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY |
| 228300 |
FERTILE EUNUCH SYNDROME |
| 228355 |
FETAL IODINE DEFICIENCY DISORDER; FIDD |
| 228400 |
FEVER, FAMILIAL LIFELONG PERSISTENT |
| 228520 |
FIBROCHONDROGENESIS 1; FBCG1 |
| 228560 |
FIBROMATOSIS, GINGIVAL, WITH DISTINCTIVE FACIES |
| 228600 |
FIBROMATOSIS, JUVENILE HYALINE |
| 228800 |
FIBROSCLEROSIS, MULTIFOCAL |
| 228900 |
FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY |
| 228930 |
FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY |
| 228940 |
FIBULOULNAR APLASIA OR HYPOPLASIA WITH RENAL ABNORMALITIES |
| 228960 |
HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY |
| 228980 |
FLECK RETINA, FAMILIAL BENIGN; FRFB |
| 228990 |
FLECK RETINA OF KANDORI |
| 229045 |
FOCAL EPITHELIAL HYPERPLASIA, ORAL |
| 229050 |
FOLATE MALABSORPTION, HEREDITARY |
| 229070 |
FOLLICLE-STIMULATING HORMONE DEFICIENCY, ISOLATED |
| 229100 |
FORMIMINOTRANSFERASE DEFICIENCY |
| 229120 |
FOUNTAIN SYNDROME |
| 229200 |
BRITTLE CORNEA SYNDROME 1; BCS1 |
| 229230 |
FRASER-LIKE SYNDROME |
| 229250 |
FREESIA FLOWERS, INABILITY TO SMELL |
| 229300 |
FRIEDREICH ATAXIA 1; FRDA |
| 229310 |
FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA |
| 229400 |
FRONTOFACIONASAL DYSPLASIA |
| 229500 |
FRUCTOSE AND GALACTOSE INTOLERANCE |
| 229600 |
FRUCTOSE INTOLERANCE, HEREDITARY |
| 229700 |
FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY |
| 229850 |
FRYNS SYNDROME; FRNS |
| 230000 |
FUCOSIDOSIS |
| 230200 |
GALACTOKINASE DEFICIENCY |
| 230300 |
GALACTORRHEA |
| 230350 |
GALACTOSE EPIMERASE DEFICIENCY |
| 230400 |
GALACTOSEMIA |
| 230450 |
GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO |
| 230500 |
GM1-GANGLIOSIDOSIS, TYPE I |
| 230600 |
GM1-GANGLIOSIDOSIS, TYPE II |
| 230650 |
GM1-GANGLIOSIDOSIS, TYPE III |
| 230740 |
GAPO SYNDROME |
| 230750 |
GASTROSCHISIS ABDOMINAL WALL DEFECTS, INCLUDED |
| 230800 |
GAUCHER DISEASE, TYPE I |
| 230900 |
GAUCHER DISEASE, TYPE II |
| 231000 |
GAUCHER DISEASE, TYPE III |
| 231005 |
GAUCHER DISEASE, TYPE IIIC |
| 231050 |
GELEOPHYSIC DYSPLASIA 1; GPHYSD1 |
| 231060 |
GENITOPALATOCARDIAC SYNDROME |
| 231070 |
GERODERMA OSTEODYSPLASTICUM; GO |
| 231080 |
GERMAN SYNDROME |
| 231090 |
HYDATIDIFORM MOLE, RECURRENT, 1; HYDM1 |
| 231095 |
GHOSAL HEMATODIAPHYSEAL DYSPLASIA; GHDD |
| 231100 |
HEMOCHROMATOSIS, NEONATAL |
| 231200 |
BERNARD-SOULIER SYNDROME; BSS |
| 231300 |
GLAUCOMA 3, PRIMARY CONGENITAL, A; GLC3A |
| 231530 |
3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY |
| 231550 |
ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAAS |
| 231630 |
GLUTAMATE MONOSODIUM SENSITIVITY |
| 231670 |
GLUTARIC ACIDEMIA I |
| 231680 |
MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD |
| 231690 |
GLUTARIC ACIDURIA III |
| 231900 |
GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO |
| 231950 |
GLUTATHIONURIA |
| 231970 |
GLUTEAL MUSCLES, ABSENCE OF |
| 232200 |
GLYCOGEN STORAGE DISEASE Ia |
| 232220 |
GLYCOGEN STORAGE DISEASE Ib |
| 232240 |
GLYCOGEN STORAGE DISEASE Ic |
| 232300 |
GLYCOGEN STORAGE DISEASE II |
| 232400 |
GLYCOGEN STORAGE DISEASE III |
| 232500 |
GLYCOGEN STORAGE DISEASE IV |
| 232600 |
GLYCOGEN STORAGE DISEASE V |
| 232700 |
GLYCOGEN STORAGE DISEASE VI |
| 232800 |
GLYCOGEN STORAGE DISEASE VII |
| 232900 |
GLYCOPROTEIN STORAGE DISEASE |
| 233100 |
RENAL GLUCOSURIA; GLYS1 |
| 233270 |
GOMBO SYNDROME |
| 233300 |
OVARIAN DYSGENESIS 1; ODG1 |
| 233400 |
PERRAULT SYNDROME; PRLTS |
| 233420 |
46,XY SEX REVERSAL 7; SRXY7 |
| 233430 |
GONADAL DYSGENESIS, XY TYPE, WITH ASSOCIATED ANOMALIES |
| 233450 |
GOODPASTURE SYNDROME |
| 233500 |
GORLIN-CHAUDHRY-MOSS SYNDROME |
| 233600 |
GRANULOCYTOPENIA WITH IMMUNOGLOBULIN ABNORMALITY |
| 233650 |
COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS; CCHIDG |
| 233670 |
GRANULOMATOUS DISEASE WITH DEFECT IN NEUTROPHIL CHEMOTAXIS |
| 233690 |
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE |
| 233700 |
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE I |
| 233710 |
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II |
| 233800 |
GROUPED PIGMENTATION OF THE MACULA |
| 233805 |
GROWTH FACTORS, COMBINED DEFECT OF |
| 233810 |
GROWTH RETARDATION, SMALL AND PUFFY HANDS AND FEET, AND ECZEMA |
| 233910 |
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B |
| 234030 |
HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION |
| 234050 |
TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1 |
| 234100 |
HALLERMANN-STREIFF SYNDROME; HSS |
| 234200 |
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1 |
| 234250 |
HALL-RIGGS MENTAL RETARDATION SYNDROME |
| 234280 |
HALLUX VARUS AND PREAXIAL POLYSYNDACTYLY |
| 234350 |
HALOTHANE HEPATITIS |
| 234500 |
HARTNUP DISORDER |
| 234580 |
HEARING LOSS, SENSORINEURAL, WITH ENAMEL HYPOPLASIA AND NAIL DEFECTS |
| 234700 |
HEART BLOCK, CONGENITAL |
| 234800 |
HEMANGIOMATOSIS, CUTANEOUS, WITH ASSOCIATED FEATURES |
| 234810 |
HEMANGIOMATOSIS, FAMILIAL PULMONARY CAPILLARY |
| 234820 |
HEMANGIOPERICYTOMA, MALIGNANT |
| 235000 |
HEMIHYPERPLASIA, ISOLATED; IH |
| 235200 |
HEMOCHROMATOSIS; HFE |
| 235255 |
MULLERIAN DERIVATIVES, PERSISTENCE OF, WITH LYMPHANGIECTASIA AND POSTAXIAL POLYDACTYLY |
| 235370 |
HEMOLYTIC ANEMIA WITH THERMAL SENSITIVITY OF RED CELLS |
| 235400 |
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1 |
| 235500 |
HEMOSIDEROSIS, PULMONARY, WITH DEFICIENCY OF GAMMA-A GLOBULIN |
| 235510 |
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME |
| 235550 |
HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY; VODI |
| 235555 |
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2; CBAS2 |
| 235700 |
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY |
| 235730 |
MOWAT-WILSON SYNDROME |
| 235740 |
HIRSCHSPRUNG DISEASE WITH POLYDACTYLY, RENAL AGENESIS, AND DEAFNESS |
| 235750 |
HIRSCHSPRUNG DISEASE WITH ULNAR POLYDACTYLY, POLYSYNDACTYLY OF BIG TOES, AND VENTRICULAR SEPTAL DEFECT |
| 235760 |
HIRSCHSPRUNG DISEASE WITH HYPOPLASTIC NAILS AND DYSMORPHIC FACIAL FEATURES |
| 235800 |
HISTIDINEMIA |
| 235830 |
HISTIDINURIA DUE TO A RENAL TUBULAR DEFECT |
| 235900 |
HISTIOCYTOSIS, FAMILIAL LIPOCHROME |
| 236000 |
LYMPHOMA, HODGKIN |
| 236100 |
HOLOPROSENCEPHALY |
| 236110 |
HOLZGREVE SYNDROME |
| 236130 |
HOMOCARNOSINOSIS |
| 236200 |
HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY |
| 236250 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY |
| 236270 |
HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE |
| 236300 |
HOOFT DISEASE |
| 236400 |
HUMERORADIAL SYNOSTOSIS HUMERORADIAL/MULTIPLE SYNOSTOSIS SYNDROME, INCLUDED |
| 236410 |
HUMERORADIAL SYNOSTOSIS WITH CRANIOFACIAL ANOMALIES |
| 236450 |
HUTTERITE CEREBROOSTEONEPHRODYSPLASIA SYNDROME |
| 236490 |
HYALINOSIS, INFANTILE SYSTEMIC |
| 236500 |
HYDRANENCEPHALY WITH RENAL APLASIA-DYSPLASIA |
| 236600 |
HYDROCEPHALUS |
| 236640 |
HYDROCEPHALUS WITH ASSOCIATED MALFORMATIONS |
| 236660 |
HYDROCEPHALUS, TALL STATURE, JOINT LAXITY, AND KYPHOSCOLIOSIS |
| 236670 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1 |
| 236680 |
HYDROLETHALUS SYNDROME 1; HLS1 |
| 236690 |
HYDROCEPHALUS, NORMAL-PRESSURE |
| 236700 |
MCKUSICK-KAUFMAN SYNDROME; MKKS |
| 236730 |
UROFACIAL SYNDROME; UFS |
| 236750 |
HYDROPS FETALIS, NONIMMUNE; NIHF HYDROPS FETALIS, ALPHA-THALASSEMIA-RELATED, INCLUDED |
| 236792 |
L-2-HYDROXYGLUTARIC ACIDURIA |
| 236795 |
3-@HYDROXYISOBUTYRIC ACIDURIA |
| 236800 |
HYDROXYKYNURENINURIA |
| 236900 |
HYDROXYLYSINURIA |
| 237000 |
HYDROXYPROLINEMIA |
| 237100 |
HYMEN, IMPERFORATE |
| 237300 |
CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO |
| 237310 |
N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY |
| 237400 |
HYPER-BETA-ALANINEMIA |
| 237450 |
HYPERBILIRUBINEMIA, ROTOR TYPE; HBLRR |
| 237500 |
DUBIN-JOHNSON SYNDROME; DJS |
| 237550 |
HYPERBILIRUBINEMIA, CONJUGATED, TYPE III |
| 237800 |
HYPERBILIRUBINEMIA, SHUNT |
| 237900 |
HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL; HBLRTFN |
| 238320 |
LEYDIG CELL HYPOPLASIA, TYPE I |
| 238340 |
HYPERLEUCINE-ISOLEUCINEMIA |
| 238350 |
HYPERLEXIA |
| 238600 |
HYPERLIPOPROTEINEMIA, TYPE I |
| 238700 |
HYPERLYSINEMIA |
| 238710 |
HYPERLYSINEMIA DUE TO DEFECT IN LYSINE TRANSPORT INTO MITOCHONDRIA |
| 238750 |
HYPERLYSINURIA WITH HYPERAMMONEMIA |
| 238950 |
HYPEROPIA, HIGH |
| 238970 |
HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME |
| 239000 |
PAGET DISEASE, JUVENILE |
| 239100 |
HYPEROSTOSIS CORTICALIS GENERALISATA |
| 239199 |
HYPERPARATHYROIDISM, NEONATAL SELF-LIMITED PRIMARY, WITH HYPERCALCIURIA |
| 239200 |
HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY; NSHPT |
| 239300 |
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1; HPMRS1 |
| 239350 |
HYPERPHOSPHATEMIA, POLYURIA, AND SEIZURES |
| 239400 |
HYPERPIPECOLATEMIA |
| 239500 |
HYPERPROLINEMIA, TYPE I; HPI |
| 239510 |
HYPERPROLINEMIA, TYPE II; HPII |
| 239710 |
ACROFRONTOFACIONASAL DYSOSTOSIS 2 |
| 239711 |
HYPERTELORISM AND TETRALOGY OF FALLOT |
| 239800 |
HYPERTELORISM, MICROTIA, FACIAL CLEFTING SYNDROME |
| 239840 |
HYPERTRICHOSIS, CONGENITAL ANTERIOR CERVICAL, WITH PERIPHERAL SENSORY AND MOTOR NEUROPATHY |
| 239850 |
HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA |
| 239900 |
HYPERTROPHIC NEUROPATHY AND CATARACT |
| 240000 |
HYPERURICEMIA, INFANTILE, WITH ABNORMAL BEHAVIOR AND NORMAL HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE |
| 240150 |
HYPERVITAMINOSIS A, SUSCEPTIBILITY TO |
| 240200 |
HYPOADRENOCORTICISM, FAMILIAL |
| 240300 |
AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I; APS1 |
| 240500 |
IMMUNODEFICIENCY, COMMON VARIABLE, 2; CVID2 |
| 240600 |
GLYCOGEN STORAGE DISEASE 0, LIVER |
| 240800 |
HYPOGLYCEMIA, LEUCINE-INDUCED; LIH |
| 240900 |
HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY; HIHGHH |
| 240950 |
HYPOGONADISM-CATARACT SYNDROME |
| 241000 |
HYPOGONADISM WITH LOW-GRADE MENTAL DEFICIENCY AND MICROCEPHALY |
| 241080 |
WOODHOUSE-SAKATI SYNDROME |
| 241090 |
HYPERGONADOTROPIC HYPOGONADISM AND PARTIAL ALOPECIA |
| 241100 |
HYPOGONADISM, MALE HYPOGONADISM AND TESTICULAR ATROPHY, INCLUDED |
| 241120 |
HYPOHIDROSIS WITH ABNORMAL PALMAR DERMAL RIDGES |
| 241150 |
HYPOKALEMIA, FAMILIAL |
| 241200 |
BARTTER SYNDROME, ANTENATAL, TYPE 2 |
| 241310 |
HYPOMANDIBULAR FACIOCRANIAL DYSOSTOSIS |
| 241410 |
HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRD |
| 241500 |
HYPOPHOSPHATASIA, INFANTILE |
| 241510 |
HYPOPHOSPHATASIA, CHILDHOOD |
| 241519 |
HYPOPHOSPHATEMIA, RENAL, WITH INTRACEREBRAL CALCIFICATIONS |
| 241520 |
HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 1; ARHR1 |
| 241530 |
HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH |
| 241550 |
HYPOPLASTIC LEFT HEART SYNDROME 1; HLHS1 |
| 241600 |
HYPOPROTEINEMIA, HYPERCATABOLIC |
| 241760 |
HYPOSPADIAS-MENTAL RETARDATION SYNDROME |
| 241800 |
HYPOTHALAMIC HAMARTOMAS CONGENITAL HYPOTHALAMIC HAMARTOMA SYNDROME, INCLUDED; CHHS, INCLUDED |
| 241850 |
HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE |
| 242050 |
HYPOURICEMIA, HYPERCALCINURIA, AND DECREASED BONE DENSITY |
| 242100 |
ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1; NCIE1 |
| 242150 |
ICHTHYOSIFORM ERYTHRODERMA, CORNEAL INVOLVEMENT, AND DEAFNESS |
| 242300 |
ICHTHYOSIS, LAMELLAR, 1; LI1 |
| 242500 |
ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE |
| 242510 |
ICHTHYOSIS WITH ALOPECIA, ECLABION, ECTROPION, AND MENTAL RETARDATION |
| 242520 |
ICHTHYOSIS, HEPATOSPLENOMEGALY, AND CEREBELLAR DEGENERATION |
| 242530 |
ICHTHYOSIS, MENTAL RETARDATION, DWARFISM, AND RENAL IMPAIRMENT |
| 242550 |
ICHTHYOSIS, SPLIT HAIRS, AND AMINO ACIDURIA |
| 242600 |
IMINOGLYCINURIA |
| 242670 |
CILIARY DYSKINESIA WITH DEFECTIVE RADIAL SPOKES |
| 242680 |
CILIARY DYSKINESIA WITH EXCESSIVELY LONG CILIA |
| 242700 |
IMMUNE DEFECT DUE TO ABSENCE OF THYMUS |
| 242840 |
IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM |
| 242850 |
IMMUNE DEFICIENCY DISEASE |
| 242860 |
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1; ICF1 |
| 242870 |
IMMUNODEFICIENCY, PARTIAL COMBINED, WITH ABSENCE OF HLA DETERMINANTS AND BETA-2-MICROGLOBULIN FROM LYMPHOCYTES |
| 242880 |
IMMUNOERYTHROMYELOID HYPOPLASIA |
| 242890 |
IMMUNOGLOBULIN D LEVEL IN PLASMA, LOW |
| 242900 |
IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE |
| 243000 |
INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE |
| 243050 |
INDOLYLACROYL GLYCINURIA WITH MENTAL RETARDATION |
| 243060 |
SPERMATOGENIC FAILURE 5; SPGF5 |
| 243080 |
INOSINE PHOSPHORYLASE DEFICIENCY, IMMUNE DEFECT DUE TO |
| 243100 |
INTERNAL CAROTID ARTERIES, HYPOPLASIA OF |
| 243110 |
IMMUNODEFICIENCY WITH DEFECTIVE T-CELL RESPONSE TO INTERLEUKIN 1 |
| 243150 |
INTESTINAL ATRESIA, MULTIPLE |
| 243180 |
VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL RECESSIVE |
| 243200 |
INTRACRANIAL HYPERTENSION, IDIOPATHIC |
| 243300 |
CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1 |
| 243310 |
BARAITSER-WINTER SYNDROME 1; BRWS1 |
| 243320 |
INTRINSIC FACTOR AND R BINDER, COMBINED CONGENITAL DEFICIENCY OF |
| 243440 |
ISOTRETINOIN EMBRYOPATHY-LIKE SYNDROME |
| 243450 |
ISOVALERIC ACID, INABILITY TO SMELL |
| 243500 |
ISOVALERIC ACIDEMIA; IVA |
| 243600 |
JEJUNAL ATRESIA |
| 243700 |
HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE |
| 243800 |
JOHANSON-BLIZZARD SYNDROME; JBS |
| 243910 |
ARIMA SYNDROME |
| 244200 |
KALLMANN SYNDROME 3; KAL3 |
| 244300 |
KAPUR-TORIELLO SYNDROME |
| 244400 |
CILIARY DYSKINESIA, PRIMARY, 1; CILD1 |
| 244450 |
KAUFMAN OCULOCEREBROFACIAL SYNDROME |
| 244460 |
KENNY-CAFFEY SYNDROME, TYPE 1; KCS1 |
| 244600 |
KERATOCONUS POSTICUS CIRCUMSCRIPTUS; KPC KPC WITH ASSOCIATED MALFORMATIONS, INCLUDED |
| 244850 |
KERATODERMA, PALMOPLANTAR, NORRBOTTEN RECESSIVE TYPE |
| 245000 |
PAPILLON-LEFEVRE SYNDROME; PALS |
| 245010 |
HAIM-MUNK SYNDROME; HMS |
| 245050 |
SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY |
| 245100 |
KETOACIDURIA WITH MENTAL DEFICIENCY AND OTHER FEATURES |
| 245130 |
KETOADIPICACIDURIA |
| 245150 |
KEUTEL SYNDROME |
| 245160 |
KNIEST-LIKE DYSPLASIA WITH PURSED LIPS AND ECTOPIA LENTIS |
| 245180 |
KIFAFA SEIZURE DISORDER |
| 245190 |
KNIEST-LIKE DYSPLASIA, LETHAL |
| 245200 |
KRABBE DISEASE |
| 245300 |
KURU, SUSCEPTIBILITY TO |
| 245340 |
ERYTHROCYTE LACTATE TRANSPORTER DEFECT |
| 245348 |
PYRUVATE DEHYDROGENASE E2 DEFICIENCY; PDHDD |
| 245349 |
PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY; PDHXD |
| 245400 |
MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA); MTDPS9 |
| 245450 |
LACTIC ACIDURIA DUE TO D-LACTIC ACID |
| 245480 |
SPECIFIC GRANULE DEFICIENCY; SGD |
| 245550 |
LAMBERT SYNDROME |
| 245552 |
LAMBOTTE SYNDROME |
| 245570 |
LANDAU-KLEFFNER SYNDROME; LKS |
| 245600 |
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS |
| 245650 |
LARSEN-LIKE SYNDROME, LETHAL TYPE |
| 245660 |
LARYNGOONYCHOCUTANEOUS SYNDROME; LOCS |
| 245800 |
LAURENCE-MOON SYNDROME |
| 245900 |
LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY |
| 246000 |
LEG, ABSENCE DEFORMITY OF, WITH CONGENITAL CATARACT |
| 246200 |
DONOHUE SYNDROME |
| 246300 |
LEPROSY, SUSCEPTIBILITY TO, 3; LPRS3 |
| 246400 |
LETTERER-SIWE DISEASE |
| 246450 |
3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY; HMGCLD |
| 246470 |
LEUKEMIA, ACUTE MYELOCYTIC, WITH POLYPOSIS COLI AND COLON CANCER |
| 246500 |
LEUKOMELANODERMA, INFANTILISM, MENTAL RETARDATION, HYPODONTIA, HYPOTRICHOSIS |
| 246550 |
LICHTENSTEIN SYNDROME |
| 246555 |
LIMB DEFECTS, DISTAL TRANSVERSE, WITH MENTAL RETARDATION AND SPASTICITY |
| 246560 |
SPLIT-HAND/FOOT MALFORMATION 3; SHFM3 |
| 246570 |
FIBULAR APLASIA, TIBIAL CAMPOMELIA, AND OLIGOSYNDACTYLY SYNDROME |
| 246700 |
CHYLOMICRON RETENTION DISEASE; CMRD |
| 247100 |
LIPOID PROTEINOSIS OF URBACH AND WIETHE |
| 247200 |
MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS |
| 247410 |
LYMPHEDEMA-HYPOPARATHYROIDISM SYNDROME |
| 247420 |
LUTHERAN NULL |
| 247430 |
LYMPHOBLASTIC TRANSFORMATION, INHIBITION OF |
| 247440 |
LYMPHEDEMA, CONGENITAL RECESSIVE |
| 247450 |
LYMPHOBLASTIC TRANSFORMATION, INTRINSIC DEFECT IN |
| 247610 |
LYMPHOID INTERSTITIAL PNEUMONIA; LIP |
| 247630 |
LYMPHOID SYSTEM DETERIORATION, PROGRESSIVE |
| 247640 |
LYMPHOBLASTIC LEUKEMIA, ACUTE, WITH LYMPHOMATOUS FEATURES; LALL |
| 247650 |
LYMPHOKINE DEFICIENCY |
| 247800 |
LYMPHOPENIC HYPERGAMMAGLOBULINEMIA, ANTIBODY DEFICIENCY, AUTOIMMUNE HEMOLYTIC ANEMIA, AND GLOMERULONEPHRITIS |
| 247950 |
LYSINE MALABSORPTION SYNDROME |
| 247990 |
MACDERMOT-WINTER SYNDROME |
| 248000 |
MACROCEPHALY |
| 248010 |
MACROEPIPHYSEAL DYSPLASIA WITH OSTEOPOROSIS, WRINKLED SKIN, AND AGED APPEARANCE |
| 248100 |
MACROSOMIA ADIPOSA CONGENITA |
| 248110 |
MACROSOMIA WITH MICROPHTHALMIA, LETHAL |
| 248190 |
HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT; HOMG5 |
| 248200 |
STARGARDT DISEASE 1; STGD1 |
| 248250 |
HYPOMAGNESEMIA 3, RENAL; HOMG3 |
| 248300 |
MAL DE MELEDA |
| 248340 |
3MC SYNDROME 3; 3MC3 |
| 248360 |
MALONYL-CoA DECARBOXYLASE DEFICIENCY |
| 248370 |
MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA |
| 248390 |
TREACHER COLLINS SYNDROME 3; TCS3 |
| 248400 |
MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL DEFICIENCY |
| 248450 |
MANITOBA OCULOTRICHOANAL SYNDROME; MOTA |
| 248500 |
MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA |
| 248510 |
MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB |
| 248600 |
MAPLE SYRUP URINE DISEASE |
| 248700 |
MARDEN-WALKER SYNDROME |
| 248760 |
MARFANOID HABITUS WITH MICROCEPHALY AND GLOMERULONEPHRITIS |
| 248770 |
MARFANOID MENTAL RETARDATION SYNDROME, AUTOSOMAL |
| 248800 |
MARINESCO-SJOGREN SYNDROME; MSS |
| 248900 |
MAST SYNDROME |
| 248910 |
CUTANEOUS MASTOCYTOSIS, CONDUCTIVE HEARING LOSS AND MICROTIA |
| 248950 |
MCDONOUGH SYNDROME |
| 249000 |
MECKEL SYNDROME, TYPE 1; MKS1 |
| 249100 |
FAMILIAL MEDITERRANEAN FEVER; FMF |
| 249210 |
MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME |
| 249230 |
MEGAEPIPHYSEAL DWARFISM |
| 249240 |
MEGALENCEPHALY WITH DYSMYELINATION |
| 249270 |
THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; TRMA |
| 249310 |
MEGALOCORNEA-MENTAL RETARDATION SYNDROME |
| 249400 |
MELANOSIS, NEUROCUTANEOUS |
| 249420 |
FRANK-TER HAAR SYNDROME; FTHS |
| 249500 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1; MRT1 |
| 249599 |
MENTAL RETARDATION SYNDROME, BELGIAN TYPE |
| 249600 |
MENTAL RETARDATION SYNDROME, MIETENS-WEBER TYPE |
| 249620 |
OHDO SYNDROME |
| 249630 |
MENTAL RETARDATION, BUENOS AIRES TYPE |
| 249650 |
MERCAPTOLACTATE-CYSTEINE DISULFIDURIA; MCDU |
| 249660 |
MESANGIAL SCLEROSIS, DIFFUSE RENAL, WITH OCULAR ABNORMALITIES |
| 249670 |
MESOAXIAL HEXADACTYLY AND CARDIAC MALFORMATION |
| 249700 |
LANGER MESOMELIC DYSPLASIA; LMD |
| 249710 |
MESOMELIC LIMB SHORTENING AND BOWING |
| 249900 |
METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY |
| 250100 |
METACHROMATIC LEUKODYSTROPHY |
| 250215 |
METAPHYSEAL ACROSCYPHODYSPLASIA |
| 250220 |
SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE |
| 250230 |
METAPHYSEAL CHONDRODYSPLASIA, KAITILA TYPE |
| 250250 |
CARTILAGE-HAIR HYPOPLASIA; CHH |
| 250300 |
METAPHYSEAL CHONDRODYSPLASIA, PENA TYPE |
| 250400 |
METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE |
| 250410 |
METAPHYSEAL CHONDRODYSPLASIA WITH RETINITIS PIGMENTOSA |
| 250420 |
METAPHYSEAL DYSOSTOSIS, MENTAL RETARDATION, AND CONDUCTIVE DEAFNESS |
| 250450 |
METAPHYSEAL DYSPLASIA, ANETODERMA, AND OPTIC ATROPHY |
| 250460 |
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS |
| 250500 |
METAPHYSEAL MODELING ABNORMALITY, SKIN LESIONS, AND SPASTIC PARAPLEGIA |
| 250620 |
BETA-HYDROXYISOBUTYRYL CoA DEACYLASE DEFICIENCY |
| 250650 |
METHANE PRODUCTION |
| 250700 |
METHEMOGLOBIN REDUCTASE DEFICIENCY |
| 250790 |
METHEMOGLOBINEMIA TYPE IV |
| 250800 |
METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE |
| 250850 |
METHIONINE ADENOSYLTRANSFERASE DEFICIENCY |
| 250900 |
METHIONINE MALABSORPTION SYNDROME |
| 250940 |
METHYLCOBALAMIN DEFICIENCY, cblG TYPE |
| 250950 |
3-@METHYLGLUTACONIC ACIDURIA, TYPE I; MGCA1 |
| 250951 |
3-@METHYLGLUTACONIC ACIDURIA, TYPE IV; MGCA4 |
| 251000 |
METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY |
| 251100 |
METHYLMALONIC ACIDURIA, cblA TYPE |
| 251110 |
METHYLMALONIC ACIDURIA, cblB TYPE |
| 251120 |
METHYLMALONYL-CoA EPIMERASE DEFICIENCY |
| 251190 |
MICROCEPHALIC PRIMORDIAL DWARFISM, TORIELLO TYPE |
| 251200 |
MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE; MCPH1 |
| 251220 |
MICROCEPHALY-CARDIOMYOPATHY |
| 251230 |
MICROCEPHALY-MICROMELIA SYNDROME |
| 251240 |
MICROCEPHALY WITH CHEMOTACTIC DEFECT AND TRANSIENT HYPOGAMMAGLOBULINEMIA |
| 251250 |
MICROCEPHALY WITH CERVICAL SPINE FUSION ANOMALIES |
| 251255 |
JAWAD SYNDROME; JWDS |
| 251260 |
NIJMEGEN BREAKAGE SYNDROME |
| 251270 |
MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION, AUTOSOMAL RECESSIVE |
| 251280 |
MICROCEPHALY WITH SPASTIC QUADRIPLEGIA |
| 251290 |
BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA; BLCPMG |
| 251300 |
MICROCEPHALY, HIATAL HERNIA, AND NEPHROTIC SYNDROME |
| 251400 |
MICROCOLON |
| 251450 |
DESBUQUOIS DYSPLASIA; DBQD |
| 251505 |
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 4; MCOPCB4 |
| 251600 |
MICROPHTHALMIA, ISOLATED 1; MCOP1 |
| 251700 |
MICROPHTHALMIA WITH HYPEROPIA, RETINAL DEGENERATION, MACROPHAKIA, AND DENTAL ANOMALIES |
| 251800 |
MICROTIA WITH MEATAL ATRESIA AND CONDUCTIVE DEAFNESS |
| 251850 |
DIARRHEA 2, WITH MICROVILLUS ATROPHY; DIAR2 |
| 251880 |
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE); MTDPS3 |
| 251900 |
MITOCHONDRIAL MYOPATHY |
| 251945 |
MITOCHONDRIAL MYOPATHY WITH A DEFECT IN MITOCHONDRIAL-PROTEIN TRANSPORT |
| 251950 |
MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS |
| 252010 |
MITOCHONDRIAL COMPLEX I DEFICIENCY |
| 252011 |
MITOCHONDRIAL COMPLEX II DEFICIENCY |
| 252100 |
MOHR SYNDROME |
| 252150 |
MOLYBDENUM COFACTOR DEFICIENCY |
| 252250 |
MONOCYTE CHEMOTACTIC DISORDER |
| 252270 |
MONOSOMY 7 OF BONE MARROW |
| 252300 |
MORQUIO SYNDROME C |
| 252320 |
MOTOR NEUROPATHY, PERIPHERAL, WITH DYSAUTONOMIA |
| 252350 |
MOYAMOYA DISEASE 1; MYMY1 |
| 252500 |
MUCOLIPIDOSIS II ALPHA/BETA |
| 252600 |
MUCOLIPIDOSIS III ALPHA/BETA |
| 252605 |
MUCOLIPIDOSIS III GAMMA |
| 252650 |
MUCOLIPIDOSIS IV |
| 252700 |
MUCOPOLYSACCHARIDOSES, UNCLASSIFIED TYPES |
| 252900 |
MUCOPOLYSACCHARIDOSIS TYPE IIIA |
| 252920 |
MUCOPOLYSACCHARIDOSIS TYPE IIIB |
| 252930 |
MUCOPOLYSACCHARIDOSIS TYPE IIIC |
| 252940 |
MUCOPOLYSACCHARIDOSIS TYPE IIID |
| 253000 |
MUCOPOLYSACCHARIDOSIS TYPE IVA |
| 253010 |
MUCOPOLYSACCHARIDOSIS TYPE IVB |
| 253200 |
MUCOPOLYSACCHARIDOSIS TYPE VI |
| 253220 |
MUCOPOLYSACCHARIDOSIS TYPE VII |
| 253240 |
MUCUS INSPISSATION OF RESPIRATORY TRACT |
| 253250 |
MULIBREY NANISM |
| 253260 |
BIOTINIDASE DEFICIENCY MULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET |
| 253270 |
HOLOCARBOXYLASE SYNTHETASE DEFICIENCY |
| 253280 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3; MDDGA3 |
| 253290 |
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE; LMPS |
| 253300 |
SPINAL MUSCULAR ATROPHY, TYPE I; SMA1 |
| 253310 |
LETHAL CONGENITAL CONTRACTURE SYNDROME 1; LCCS1 |
| 253320 |
MULTICORE MYOPATHY WITH MENTAL RETARDATION, SHORT STATURE, AND HYPOGONADOTROPIC HYPOGONADISM |
| 253400 |
SPINAL MUSCULAR ATROPHY, TYPE III; SMA3 |
| 253550 |
SPINAL MUSCULAR ATROPHY, TYPE II; SMA2 |
| 253590 |
MUSCULAR DYSTROPHY, ADULT-ONSET, WITH LEUKOENCEPHALOPATHY |
| 253600 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A |
| 253601 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B |
| 253700 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C |
| 253800 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4 |
| 253900 |
MUSCULAR DYSTROPHY, CONGENITAL, PRODUCING ARTHROGRYPOSIS |
| 254000 |
MUSCULAR DYSTROPHY, CONGENITAL, WITH INFANTILE CATARACT AND HYPOGONADISM |
| 254090 |
ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD |
| 254100 |
MUSCULAR DYSTROPHY, CONGENITAL, WITH RAPID PROGRESSION |
| 254110 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H; LGMD2H |
| 254120 |
MUSCULAR HYPERTONIA, LETHAL |
| 254130 |
MIYOSHI MUSCULAR DYSTROPHY 1; MMD1 |
| 254150 |
MUSK, INABILITY TO SMELL |
| 254190 |
MYASTHENIA, CONGENITAL, REFRACTORY TO ACETYLCHOLINESTERASE INHIBITORS |
| 254200 |
MYASTHENIA GRAVIS; MG |
| 254210 |
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA |
| 254300 |
MYASTHENIA, LIMB-GIRDLE, FAMILIAL |
| 254400 |
MYCOSIS FUNGOIDES |
| 254450 |
MYELOFIBROSIS MYELOFIBROSIS WITH MYELOID METAPLASIA, INCLUDED; MMM, INCLUDED |
| 254600 |
MYELOPEROXIDASE DEFICIENCY; MPOD |
| 254700 |
MYELOPROLIFERATIVE DISEASE, AUTOSOMAL RECESSIVE |
| 254770 |
EPILEPSY, MYOCLONIC JUVENILE; EJM |
| 254780 |
MYOCLONIC EPILEPSY OF LAFORA |
| 254800 |
MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG |
| 254900 |
EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE; EPM4 |
| 254940 |
MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE |
| 254950 |
MYOPATHY, GRANULOVACUOLAR LOBULAR, WITH ELECTRICAL MYOTONIA |
| 254960 |
MYOPATHY DUE TO MALATE-ASPARTATE SHUTTLE DEFECT |
| 255100 |
MYOPATHY WITH ABNORMAL LIPID METABOLISM |
| 255110 |
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET |
| 255120 |
CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY |
| 255125 |
MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY; HML |
| 255140 |
MYOPATHY WITH GIANT ABNORMAL MITOCHONDRIA |
| 255160 |
MYOPATHY, HYALINE BODY, AUTOSOMAL RECESSIVE |
| 255200 |
MYOPATHY, CENTRONUCLEAR, 2; CNM2 |
| 255300 |
MYOPATHY, CONGENITAL |
| 255310 |
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD |
| 255320 |
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA |
| 255500 |
MYOPIA 18, AUTOSOMAL RECESSIVE; MYP18 |
| 255600 |
MYOSCLEROSIS, AUTOSOMAL RECESSIVE |
| 255700 |
MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE |
| 255710 |
MYOTONIA WITH SKELETAL ABNORMALITIES AND MENTAL RETARDATION |
| 255800 |
SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1 |
| 255900 |
MYXEDEMA |
| 255960 |
MYXOMA, INTRACARDIAC |
| 255980 |
NASODIGITOACOUSTIC SYNDROME |
| 255990 |
NATHALIE SYNDROME |
| 255995 |
NATIVE AMERICAN MYOPATHY; NAM |
| 256000 |
LEIGH SYNDROME; LS |
| 256020 |
NAIL-PATELLA-LIKE RENAL DISEASE |
| 256030 |
NEMALINE MYOPATHY 2; NEM2 |
| 256040 |
AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME; ALDD |
| 256050 |
ATELOSTEOGENESIS, TYPE II; AOII |
| 256100 |
NEPHRONOPHTHISIS 1; NPHP1 |
| 256120 |
NEPHROPATHY, DEAFNESS, AND HYPERPARATHYROIDISM |
| 256150 |
NEPHROSIALIDOSIS |
| 256200 |
NEPHROSIS WITH DEAFNESS AND URINARY TRACT AND DIGITAL MALFORMATIONS |
| 256300 |
NEPHROTIC SYNDROME, TYPE 1; NPHS1 |
| 256370 |
NEPHROTIC SYNDROME, TYPE 4; NPHS4 |
| 256450 |
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1 |
| 256500 |
NETHERTON SYNDROME; NETH |
| 256520 |
NEU-LAXOVA SYNDROME; NLS |
| 256540 |
GALACTOSIALIDOSIS; GSL |
| 256550 |
NEURAMINIDASE DEFICIENCY |
| 256600 |
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A |
| 256690 |
NEUROFACIODIGITORENAL SYNDROME |
| 256700 |
NEUROBLASTOMA, SUSCEPTIBILITY TO NEUROBLASTOMA, SUSCEPTIBILITY TO, 1, INCLUDED; NBLST1, INCLUDED |
| 256710 |
ELEJALDE DISEASE |
| 256720 |
NEUROLOGIC DISEASE, INFANTILE MULTISYSTEM, WITH OSSEOUS FRAGILITY |
| 256730 |
CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1 |
| 256731 |
CEROID LIPOFUSCINOSIS, NEURONAL, 5; CLN5 |
| 256800 |
INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA |
| 256810 |
MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE); MTDPS6 |
| 256840 |
NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE |
| 256850 |
GIANT AXONAL NEUROPATHY 1; GAN1 |
| 256860 |
NEUROPATHY, HEREDITARY SENSORY, ATYPICAL |
| 256870 |
NEUROPATHY, PAINFUL |
| 257100 |
NEUTROPENIA, LETHAL CONGENITAL, WITH EOSINOPHILIA |
| 257150 |
NEUTROPHIL ACTIN DYSFUNCTION; NAD |
| 257200 |
NIEMANN-PICK DISEASE, TYPE A |
| 257220 |
NIEMANN-PICK DISEASE, TYPE C1; NPC1 |
| 257270 |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B; CSNB1B |
| 257300 |
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 |
| 257320 |
LISSENCEPHALY 2; LIS2 |
| 257350 |
NUCHAL BLEB, FAMILIAL |
| 257400 |
NYSTAGMUS, CONGENITAL, AUTOSOMAL RECESSIVE |
| 257500 |
OBESITY-HYPOVENTILATION SYNDROME |
| 257550 |
OCULAR MOTOR APRAXIA |
| 257600 |
OCULAR MYOPATHY WITH CURARE SENSITIVITY |
| 257790 |
OCULOCEREBRAL HYPOPIGMENTATION SYNDROME OF PREUS |
| 257800 |
OCULOCEREBRAL SYNDROME WITH HYPOPIGMENTATION |
| 257850 |
OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE |
| 257910 |
OCULOPALATOCEREBRAL SYNDROME |
| 257920 |
3MC SYNDROME 1; 3MC1 |
| 257960 |
OCULOTRICHODYSPLASIA; OTD |
| 257970 |
OCULORENOCEREBELLAR SYNDROME |
| 257980 |
ODONTOONYCHODERMAL DYSPLASIA; OODD |
| 258040 |
OEIS COMPLEX |
| 258100 |
OGUCHI DISEASE 1 |
| 258150 |
SPERMATOGENIC FAILURE 1; SPGF1 |
| 258200 |
OLIVER SYNDROME |
| 258300 |
OLIVOPONTOCEREBELLAR ATROPHY II, AUTOSOMAL RECESSIVE |
| 258315 |
OMODYSPLASIA 1; OMOD1 |
| 258320 |
OMPHALOCELE-CLEFT PALATE SYNDROME, LETHAL |
| 258360 |
ONYCHOTRICHODYSPLASIA AND NEUTROPENIA |
| 258400 |
OPHTHALMOPLEGIA TOTALIS WITH PTOSIS AND MIOSIS |
| 258450 |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE; PEOB |
| 258470 |
OPHTHALMOPLEGIC NEUROMUSCULAR DISORDER WITH ABNORMAL MITOCHONDRIA |
| 258480 |
OPSISMODYSPLASIA |
| 258500 |
OPTIC ATROPHY 6; OPA6 |
| 258501 |
3-@METHYLGLUTACONIC ACIDURIA, TYPE III; MGCA3 |
| 258650 |
OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE |
| 258660 |
NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO |
| 258700 |
OPTICOCOCHLEODENTATE DEGENERATION |
| 258800 |
ORAL SENSIBILITY, DISTURBANCE OF |
| 258840 |
ORAL AND DIGITAL ANOMALIES WITH ICHTHYOSIS |
| 258850 |
OROFACIODIGITAL SYNDROME III; OFD3 |
| 258860 |
OROFACIODIGITAL SYNDROME IV; OFD4 |
| 258865 |
OROFACIODIGITAL SYNDROME IX; OFD9 |
| 258870 |
GYRATE ATROPHY OF CHOROID AND RETINA; GACR |
| 258900 |
OROTIC ACIDURIA |
| 259050 |
OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND BONY CHANGES |
| 259100 |
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1 |
| 259200 |
BLOUNT DISEASE, ADOLESCENT |
| 259270 |
OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI |
| 259410 |
OSTEOGENESIS IMPERFECTA CONGENITA, MICROCEPHALY, AND CATARACTS |
| 259420 |
OSTEOGENESIS IMPERFECTA, TYPE III |
| 259440 |
OSTEOGENESIS IMPERFECTA, TYPE IX |
| 259450 |
BRUCK SYNDROME 1; BRKS1 |
| 259500 |
OSTEOGENIC SARCOMA |
| 259600 |
TORG-WINCHESTER SYNDROME |
| 259610 |
OSTEOLYSIS SYNDROME, RECESSIVE |
| 259650 |
OSTEOMA OF MIDDLE EAR |
| 259660 |
OSTEOMALACIA, SCLEROSING, WITH CEREBRAL CALCIFICATION |
| 259680 |
CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS; CRMO |
| 259690 |
OSTEOPENIA AND SPARSE HAIR |
| 259700 |
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1 |
| 259710 |
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2 |
| 259720 |
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5 |
| 259730 |
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3 |
| 259750 |
OSTEOPOROSIS, JUVENILE |
| 259770 |
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; OPPG |
| 259775 |
RAINE SYNDROME; RNS |
| 259780 |
OTOONYCHOPERONEAL SYNDROME |
| 259900 |
HYPEROXALURIA, PRIMARY, TYPE I; HP1 |
| 260000 |
HYPEROXALURIA, PRIMARY, TYPE II |
| 260005 |
5-@OXOPROLINASE DEFICIENCY; OPLAHD |
| 260100 |
PA POLYMORPHISM OF ALPHA-2-GLOBULIN |
| 260130 |
PACHYONYCHIA CONGENITA, AUTOSOMAL RECESSIVE |
| 260150 |
PALANT CLEFT PALATE SYNDROME |
| 260200 |
PALLIDAL DEGENERATION, PROGRESSIVE, WITH RETINITIS PIGMENTOSA |
| 260300 |
PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK15 |
| 260370 |
PANCREATIC AGENESIS, CONGENITAL; PAGEN |
| 260400 |
SHWACHMAN-DIAMOND SYNDROME; SDS |
| 260450 |
PANCREATIC INSUFFICIENCY, COMBINED EXOCRINE |
| 260470 |
PANENCEPHALITIS, SUBACUTE SCLEROSING |
| 260480 |
PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX |
| 260500 |
PAPILLOMA OF CHOROID PLEXUS |
| 260530 |
PARANA HARD-SKIN SYNDROME |
| 260540 |
PARKINSON-DEMENTIA SYNDROME SUPRANUCLEAR PALSY, PROGRESSIVE, 1, ATYPICAL, INCLUDED |
| 260565 |
PEHO SYNDROME |
| 260570 |
PELGER-HUET-LIKE ANOMALY AND EPISODIC FEVER WITH ABDOMINAL PAIN |
| 260600 |
LEUKODYSTROPHY, HYPOMYELINATING, 3; HLD3 |
| 260650 |
PELLAGRA-LIKE SYNDROME |
| 260660 |
COUSIN SYNDROME |
| 260800 |
PENTOSURIA |
| 260900 |
PERICARDIAL EFFUSION, CHRONIC |
| 260910 |
PERIFOLLICULITIS CAPITIS ABSCEDENS ET SUFFODIENS, FAMILIAL |
| 260920 |
HYPER-IgD SYNDROME; HIDS |
| 260950 |
PERIODONTITIS, CHRONIC |
| 260970 |
PERIPHERAL NEUROPATHY, ATAXIA, FOCAL NECROTIZING ENCEPHALOPATHY, AND SPONGY DEGENERATION OF BRAIN |
| 261000 |
INTRINSIC FACTOR DEFICIENCY; IFD |
| 261100 |
MEGALOBLASTIC ANEMIA 1 |
| 261400 |
PERONEUS TERTIUS MUSCLE, ABSENCE OF |
| 261515 |
D-BIFUNCTIONAL PROTEIN DEFICIENCY |
| 261540 |
PETERS-PLUS SYNDROME |
| 261550 |
PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II; PMDS |
| 261560 |
PFEIFFER-PALM-TELLER SYNDROME |
| 261590 |
PHENFORMIN 4-HYDROXYLATION |
| 261600 |
PHENYLKETONURIA; PKU |
| 261630 |
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C |
| 261640 |
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A |
| 261650 |
PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, MITOCHONDRIAL |
| 261670 |
GLYCOGEN STORAGE DISEASE X; GSD10 |
| 261680 |
PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC |
| 261740 |
GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL |
| 261750 |
GLYCOGEN STORAGE DISEASE IXb; GSD9B |
| 261800 |
PIERRE ROBIN SYNDROME |
| 261900 |
PILI TORTI, EARLY-ONSET |
| 262000 |
BJORNSTAD SYNDROME; BJS |
| 262020 |
PILODENTAL DYSPLASIA WITH REFRACTIVE ERRORS |
| 262190 |
PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES |
| 262300 |
ACHROMATOPSIA 3; ACHM3 |
| 262400 |
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA; IGHD1A |
| 262500 |
LARON SYNDROME |
| 262600 |
PITUITARY HORMONE DEFICIENCY, COMBINED, 2; CPHD2 |
| 262650 |
KOWARSKI SYNDROME |
| 262700 |
PITUITARY HORMONE DEFICIENCY, COMBINED, 4; CPHD4 |
| 262710 |
PITUITARY DWARFISM WITH LARGE SELLA TURCICA |
| 262800 |
PLASMA CLOT RETRACTION FACTOR, DEFICIENCY OF |
| 262850 |
ALPHA-2-PLASMIN INHIBITOR DEFICIENCY |
| 262875 |
PLATELET PROSTACYCLIN RECEPTOR DEFECT |
| 262900 |
PLEOCONIAL MYOPATHY WITH SALT CRAVING |
| 263000 |
INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL; DIP |
| 263100 |
POLYCYSTIC KIDNEY, CATARACT, AND CONGENITAL BLINDNESS |
| 263200 |
POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD |
| 263210 |
POLYCYSTIC KIDNEY DISEASE, POTTER TYPE I, WITH MICROBRACHYCEPHALY, HYPERTELORISM, AND BRACHYMELIA |
| 263300 |
POLYCYTHEMIA VERA |
| 263400 |
ERYTHROCYTOSIS, FAMILIAL, 2; ECYT2 |
| 263450 |
POLYDACTYLY, POSTAXIAL |
| 263510 |
SHORT RIB-POLYDACTYLY SYNDROME, TYPE III |
| 263520 |
SHORT RIB-POLYDACTYLY SYNDROME, TYPE II |
| 263530 |
SHORT RIB-POLYDACTYLY SYNDROME, TYPE I; SRPS1 |
| 263540 |
POLYDACTYLY, POSTAXIAL, WITH DENTAL AND VERTEBRAL ANOMALIES |
| 263550 |
POLYMYOCLONUS, INFANTILE |
| 263570 |
POLYGLUCOSAN BODY DISEASE, ADULT FORM; APBD |
| 263610 |
POLYHYDRAMNIOS, CHRONIC IDIOPATHIC |
| 263630 |
POLYSYNDACTYLY WITH CARDIAC MALFORMATION |
| 263650 |
POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE |
| 263700 |
PORPHYRIA, CONGENITAL ERYTHROPOIETIC |
| 263750 |
POSTAXIAL ACROFACIAL DYSOSTOSIS; POADS |
| 263800 |
GITELMAN SYNDROME |
| 264010 |
PRADER-WILLI HABITUS, OSTEOPENIA, AND CAMPTODACTYLY |
| 264050 |
PRENATAL BOWING |
| 264060 |
PREPAPILLARY VASCULAR LOOPS |
| 264070 |
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D; HPABH4D |
| 264080 |
PROGESTERONE RESISTANCE |
| 264090 |
PROGEROID SYNDROME, NEONATAL |
| 264110 |
PROLACTIN DEFICIENCY, ISOLATED |
| 264120 |
PROLACTIN DEFICIENCY WITH OBESITY AND ENLARGED TESTES |
| 264140 |
PRUNE BELLY SYNDROME WITH PULMONIC STENOSIS, MENTAL RETARDATION, AND DEAFNESS |
| 264180 |
PSEUDODIASTROPHIC DYSPLASIA |
| 264270 |
PSEUDOHERMAPHRODITISM, FEMALE, WITH SKELETAL ANOMALIES |
| 264300 |
17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY |
| 264350 |
PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE; PHA1B |
| 264420 |
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, RECESSIVE FORM |
| 264470 |
PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY |
| 264475 |
PSEUDOPAPILLEDEMA, OCULAR HYPOTELORISM, BLEPHAROPHIMOSIS, AND HAND ANOMALIES |
| 264480 |
PSEUDOTRISOMY 13 SYNDROME |
| 264500 |
PSEUDOURIDINURIA AND MENTAL DEFECT |
| 264600 |
PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH |
| 264700 |
VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A; VDDR1A |
| 264800 |
PSEUDOXANTHOMA ELASTICUM; PXE |
| 265000 |
MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS |
| 265050 |
3MC SYNDROME 2; 3MC2 |
| 265100 |
PULMONARY ALVEOLAR MICROLITHIASIS |
| 265120 |
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1; SMDP1 |
| 265140 |
PULMONARY ARTERIOVENOUS FISTULAS |
| 265150 |
PULMONARY ATRESIA WITH INTACT VENTRICULAR SEPTUM |
| 265200 |
PULMONARY BULLAE CAUSING PNEUMOTHORAX |
| 265300 |
LYMPHANGIECTASIA, PULMONARY, CONGENITAL; CPL |
| 265380 |
ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS; ACDMPV |
| 265400 |
PULMONARY HYPERTENSION, PRIMARY, AUTOSOMAL RECESSIVE |
| 265430 |
LUNG AGENESIS |
| 265450 |
PULMONARY VENOOCCLUSIVE DISEASE; PVOD |
| 265500 |
PULMONIC STENOSIS |
| 265800 |
PYCNODYSOSTOSIS |
| 265850 |
PYGMY |
| 265880 |
PYKNOACHONDROGENESIS |
| 265900 |
PYLE DISEASE |
| 265950 |
PYLORIC ATRESIA |
| 266100 |
EPILEPSY, PYRIDOXINE-DEPENDENT; EPD |
| 266120 |
URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO |
| 266130 |
GLUTATHIONE SYNTHETASE DEFICIENCY |
| 266140 |
PYROPOIKILOCYTOSIS, HEREDITARY; HPP |
| 266150 |
PYRUVATE CARBOXYLASE DEFICIENCY |
| 266200 |
PYRUVATE KINASE DEFICIENCY OF RED CELLS |
| 266250 |
RADICULONEUROPATHY, FATAL NEONATAL |
| 266255 |
RADIOULNAR SYNOSTOSIS, UNILATERAL, WITH DEVELOPMENTAL RETARDATION AND HYPOTONIA |
| 266265 |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C |
| 266270 |
RAMON SYNDROME |
| 266280 |
RAPADILINO SYNDROME |
| 266300 |
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2; SHEP2 |
| 266350 |
RED SKIN PIGMENT ANOMALY OF NEW GUINEA |
| 266400 |
REESE RETINAL DYSPLASIA |
| 266500 |
REFSUM DISEASE, ADULT |
| 266510 |
REFSUM DISEASE, INFANTILE |
| 266600 |
INFLAMMATORY BOWEL DISEASE 1; IBD1 REGIONAL ENTERITIS, INCLUDED |
| 266810 |
RENAL AND MULLERIAN DUCT HYPOPLASIA |
| 266900 |
SENIOR-LOKEN SYNDROME 1; SLSN1 |
| 266910 |
RENAL DYSPLASIA-LIMB DEFECTS SYNDROME |
| 266920 |
MAINZER-SALDINO SYNDROME; MZSDS |
| 267000 |
PERLMAN SYNDROME; PRLMNS |
| 267200 |
RENAL TUBULAR ACIDOSIS III |
| 267300 |
RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS |
| 267400 |
RENAL, GENITAL, AND MIDDLE EAR ANOMALIES |
| 267430 |
RENAL TUBULAR DYSGENESIS; RTD |
| 267450 |
RESPIRATORY DISTRESS SYNDROME IN PREMATURE INFANTS |
| 267480 |
RESPIRATORY UNDERRESPONSIVENESS TO HYPOXIA AND HYPERCAPNIA |
| 267500 |
RETICULAR DYSGENESIS |
| 267700 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1 |
| 267730 |
RETICULUM CELL SARCOMA |
| 267740 |
RETINAL DEGENERATION AND EPILEPSY |
| 267750 |
KNOBLOCH SYNDROME 1; KNO1 |
| 267760 |
RETINAL DEGENERATION WITH NANOPHTHALMOS, CYSTIC MACULAR DEGENERATION, AND ANGLE CLOSURE GLAUCOMA |
| 267800 |
RETINAL DYSTROPHY, RETICULAR PIGMENTARY, OF POSTERIOR POLE |
| 267900 |
RETINAL TELANGIECTASIA AND HYPOGAMMAGLOBULINEMIA |
| 268000 |
RETINITIS PIGMENTOSA; RP |
| 268010 |
RETINITIS PIGMENTOSA INVERSA WITH DEAFNESS |
| 268020 |
RETINITIS PIGMENTOSA, DEAFNESS, MENTAL RETARDATION, AND HYPOGONADISM |
| 268025 |
RETINITIS PIGMENTOSA, LATE-ADULT ONSET |
| 268040 |
RETINOHEPATOENDOCRINOLOGIC SYNDROME |
| 268050 |
RETINOPATHY, PIGMENTARY, AND MENTAL RETARDATION |
| 268060 |
RETINOPATHY, PERICENTRAL PIGMENTARY, AUTOSOMAL RECESSIVE |
| 268080 |
RETINOSCHISIS OF FOVEA |
| 268100 |
ENHANCED S-CONE SYNDROME; ESCS GOLDMANN-FAVRE SYNDROME, INCLUDED |
| 268130 |
REVESZ SYNDROME |
| 268150 |
RH-NULL, REGULATOR TYPE; RHN RH DEFICIENCY SYNDROME, INCLUDED |
| 268200 |
MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE |
| 268210 |
RHABDOMYOSARCOMA 1; RMS1 |
| 268220 |
RHABDOMYOSARCOMA 2; RMS2 |
| 268240 |
RHEUMATIC FEVER-RELATED ANTIGEN RHEUMATIC FEVER, ACUTE, SUSCEPTIBILITY TO, INCLUDED |
| 268250 |
RHIZOMELIC SYNDROME |
| 268300 |
ROBERTS SYNDROME; RBS |
| 268305 |
ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES |
| 268310 |
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS |
| 268320 |
RODRIGUES BLINDNESS |
| 268400 |
ROTHMUND-THOMSON SYNDROME; RTS |
| 268500 |
ROWLEY-ROSENBERG SYNDROME |
| 268650 |
RUDIGER SYNDROME |
| 268700 |
SACCHAROPINURIA |
| 268800 |
SANDHOFF DISEASE |
| 268850 |
SAO PAULO MCA/MR SYNDROME |
| 268900 |
SARCOSINEMIA |
| 269000 |
SC PHOCOMELIA SYNDROME |
| 269150 |
SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME |
| 269200 |
AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE II; APS2 |
| 269250 |
SCHNECKENBECKEN DYSPLASIA |
| 269300 |
SCHWARTZ-LELEK SYNDROME |
| 269400 |
SCLEROCORNEA, AUTOSOMAL RECESSIVE |
| 269500 |
SCLEROSTEOSIS 1; SOST1 |
| 269600 |
SEA-BLUE HISTIOCYTE DISEASE |
| 269630 |
SECOND METATARSAL-METACARPAL SYNDROME |
| 269650 |
SECRETORY COMPONENT DEFICIENCY |
| 269700 |
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2 |
| 269720 |
SEIZURES, BENIGN FAMILIAL NEONATAL, AUTOSOMAL RECESSIVE |
| 269840 |
SEVERE COMBINED IMMUNODEFICIENCY, ATYPICAL |
| 269860 |
SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV |
| 269870 |
SHORT STATURE-OBESITY SYNDROME; SSOS |
| 269880 |
SHORT SYNDROME |
| 269920 |
INFANTILE SIALIC ACID STORAGE DISORDER |
| 269921 |
SIALURIA |
| 270100 |
HETEROTAXY, VISCERAL, 5, AUTOSOMAL; HTX5 |
| 270150 |
SJOGREN SYNDROME |
| 270200 |
SJOGREN-LARSSON SYNDROME; SLS |
| 270220 |
SJOGREN-LARSSON-LIKE ICHTHYOSIS WITHOUT CNS OR EYE INVOLVEMENT |
| 270300 |
PEELING SKIN SYNDROME |
| 270350 |
SKUNK N-BUTYLMERCAPTAN, INABILITY TO SMELL |
| 270400 |
SMITH-LEMLI-OPITZ SYNDROME; SLOS |
| 270420 |
DIARRHEA 3, SECRETORY SODIUM, CONGENITAL; DIAR3 |
| 270450 |
INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO |
| 270460 |
SONODA SYNDROME |
| 270500 |
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION |
| 270550 |
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS |
| 270600 |
SPASTIC DIPLEGIA, INFANTILE TYPE |
| 270685 |
SPASTIC PARAPLEGIA 17; SPG17 |
| 270700 |
SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE; SPG15 |
| 270710 |
FITZSIMMONS-GUILBERT SYNDROME |
| 270750 |
SPASTIC PARAPLEGIA 23; SPG23 |
| 270800 |
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A |
| 270850 |
SPASTIC PARESIS, GLAUCOMA, AND MENTAL RETARDATION |
| 270950 |
SPASTIC QUADRIPLEGIA, RETINITIS PIGMENTOSA, AND MENTAL RETARDATION |
| 270960 |
SPERMATOGENIC FAILURE 4; SPGF4 |
| 270970 |
SPHEROCYTOSIS, TYPE 3; SPH3 |
| 271109 |
SPINAL MUSCULAR ATROPHY WITH MENTAL RETARDATION |
| 271110 |
SPINAL MUSCULAR ATROPHY WITH MICROCEPHALY AND MENTAL SUBNORMALITY |
| 271150 |
SPINAL MUSCULAR ATROPHY, TYPE IV; SMA4 |
| 271200 |
SPINAL MUSCULAR ATROPHY, RYUKYUAN TYPE |
| 271220 |
SPINAL MUSCULAR ATROPHY, SCAPULOPERONEAL |
| 271225 |
SPINAL MUSCULAR ATROPHY, TYPE I, WITH CONGENITAL BONE FRACTURES |
| 271245 |
MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE); MTDPS7 |
| 271250 |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3; SCAR3 |
| 271270 |
SPINOCEREBELLAR ATAXIA WITH DYSMORPHISM |
| 271310 |
SPINOCEREBELLAR DEGENERATION AND CORNEAL DYSTROPHY |
| 271320 |
SPINOCEREBELLAR DEGENERATION WITH MACULAR CORNEAL DYSTROPHY, CONGENITAL CATARACTS, AND MYOPIA |
| 271322 |
SPINOCEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS; SDSEM |
| 271400 |
SPLENIC HYPOPLASIA |
| 271500 |
SPLENOPORTAL VASCULAR ANOMALIES |
| 271510 |
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE |
| 271520 |
SPONDYLOCOSTAL DYSOSTOSIS WITH ANAL ATRESIA AND UROGENITAL ANOMALIES |
| 271530 |
BRACHYOLMIA TYPE 1, HOBAEK TYPE |
| 271550 |
SPONDYLOENCHONDRODYSPLASIA; SPENCD |
| 271600 |
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE |
| 271620 |
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH MENTAL RETARDATION |
| 271630 |
BRACHYOLMIA TYPE 1, TOLEDO TYPE |
| 271640 |
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1; SEMDJL1 |
| 271650 |
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, IRAPA TYPE; SEMDIT |
| 271665 |
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE |
| 271700 |
SPONDYLOPERIPHERAL DYSPLASIA |
| 271900 |
CANAVAN DISEASE |
| 271930 |
STRIATONIGRAL DEGENERATION, INFANTILE; SNDI |
| 271950 |
SUBAORTIC STENOSIS, MEMBRANOUS |
| 271960 |
SUBAORTIC STENOSIS--SHORT STATURE SYNDROME |
| 271980 |
SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY |
| 272000 |
SUCROSURIA, HIATUS HERNIA AND MENTAL RETARDATION |
| 272100 |
SUDANOPHILIC CEREBRAL SCLEROSIS |
| 272120 |
SUDDEN INFANT DEATH SYNDROME |
| 272150 |
SUGARMAN BRACHYDACTYLY |
| 272200 |
MULTIPLE SULFATASE DEFICIENCY; MSD |
| 272300 |
SULFOCYSTEINURIA |
| 272350 |
SUMMITT SYNDROME |
| 272370 |
SUSCEPTIBILITY TO LYSIS BY ALLOREACTIVE NATURAL KILLER CELLS; EC1 |
| 272430 |
COLD-INDUCED SWEATING SYNDROME 1; CISS1 |
| 272440 |
SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION |
| 272450 |
SYNDESMODYSPLASIC DWARFISM |
| 272460 |
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME; SCT |
| 272600 |
TAPETORETINAL DEGENERATION WITH ATAXIA |
| 272650 |
TATSUMI FACTOR DEFICIENCY |
| 272700 |
TAURODONTISM |
| 272750 |
GM2-GANGLIOSIDOSIS, AB VARIANT |
| 272800 |
TAY-SACHS DISEASE; TSD |
| 272980 |
TEETH, CONGENITAL ABSENCE OF, WITH TAURODONTIA AND SPARSE HAIR |
| 273000 |
TEETH, FUSED |
| 273050 |
TEETH, NONERUPTION OF, WITH MAXILLARY HYPOPLASIA AND GENU VALGUM |
| 273120 |
TERATOMA, PINEAL |
| 273150 |
TESTES, RUDIMENTARY |
| 273250 |
TESTICULAR REGRESSION SYNDROME; TRS |
| 273300 |
TESTICULAR GERM CELL TUMOR; TGCT |
| 273390 |
TETRAAMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT ABNORMALITIES |
| 273395 |
TETRAAMELIA, AUTOSOMAL RECESSIVE |
| 273400 |
TETRAMELIC DEFICIENCIES, ECTODERMAL DYSPLASIA, DEFORMED EARS, AND OTHER ABNORMALITIES |
| 273600 |
THALIDOMIDE SUSCEPTIBILITY |
| 273680 |
THANATOPHORIC DYSPLASIA, GLASGOW VARIANT |
| 273730 |
THORACIC DYSPLASIA-HYDROCEPHALUS SYNDROME |
| 273740 |
THORACOMELIC DYSPLASIA |
| 273750 |
THREE M SYNDROME 1; 3M1 |
| 273770 |
THREONINEMIA |
| 273800 |
GLANZMANN THROMBASTHENIA; GT |
| 273900 |
THROMBOCYTOPENIA 3; THC3 |
| 274000 |
THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR |
| 274150 |
THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL; TTP |
| 274190 |
THUMB AGENESIS, SHORT STATURE, AND IMMUNODEFICIENCY |
| 274200 |
THUMB, DISTAL HYPEREXTENSIBILITY OF |
| 274205 |
THUMB, HYPOPLASTIC, WITH CHOROID COLOBOMA, POORLY DEVELOPED ANTIHELIX, AND DEAFNESS |
| 274210 |
THYMIC APLASIA WITH FETAL DEATH |
| 274230 |
THYMOMA, FAMILIAL |
| 274240 |
THYROCEREBRORETINAL SYNDROME |
| 274265 |
THYMIC-RENAL-ANAL-LUNG DYSPLASIA |
| 274270 |
DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY |
| 274300 |
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; GRTH |
| 274400 |
THYROID DYSHORMONOGENESIS 1; TDH1 |
| 274500 |
THYROID DYSHORMONOGENESIS 2A; TDH2A |
| 274600 |
PENDRED SYNDROME; PDS |
| 274700 |
THYROID DYSHORMONOGENESIS 3; TDH3 |
| 274800 |
THYROID DYSHORMONOGENESIS 4; TDH4 |
| 274900 |
THYROID DYSHORMONOGENESIS 5; TDH5 |
| 275000 |
GRAVES DISEASE |
| 275100 |
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4; CHNG4 |
| 275120 |
THYROTROPIN-RELEASING HORMONE DEFICIENCY |
| 275190 |
TIGLIC ACIDEMIA |
| 275200 |
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1 |
| 275210 |
RESTRICTIVE DERMOPATHY, LETHAL |
| 275230 |
TIBIA, ABSENCE OF, WITH CONGENITAL DEAFNESS |
| 275240 |
TINEA IMBRICATA, SUSCEPTIBILITY TO |
| 275250 |
TONGUE, PIGMENTED FUNGIFORM PAPILLAE OF |
| 275300 |
TRACHEOBRONCHOMEGALY |
| 275350 |
TRANSCOBALAMIN II DEFICIENCY |
| 275355 |
SQUAMOUS CELL CARCINOMA, HEAD AND NECK; HNSCC |
| 275370 |
TRICARBOXYLIC ACID CYCLE, DEFECT OF |
| 275400 |
TRICHOMEGALY WITH MENTAL RETARDATION, DWARFISM, AND PIGMENTARY DEGENERATION OF RETINA |
| 275450 |
TRICHOODONTOONYCHIAL DYSPLASIA WITH BONE DEFICIENCY |
| 275550 |
TRICHORRHEXIS NODOSA SYNDROME |
| 275595 |
TRIGONOBRACHYCEPHALY, BULBOUS BIFID NOSE, MICROGNATHIA, AND ABNORMALITIES OF THE HANDS AND FEET |
| 275630 |
CHANARIN-DORFMAN SYNDROME; CDS |
| 275900 |
SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20 |
| 276100 |
TRYPTOPHANURIA WITH DWARFISM |
| 276200 |
T-SUBSTANCE ANOMALY |
| 276300 |
MISMATCH REPAIR CANCER SYNDROME |
| 276600 |
TYROSINEMIA, TYPE II |
| 276700 |
TYROSINEMIA, TYPE I |
| 276710 |
TYROSINEMIA, TYPE III |
| 276800 |
TYROSINOSIS |
| 276820 |
ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY |
| 276821 |
ULNAR HYPOPLASIA WITH MENTAL RETARDATION |
| 276822 |
ULNAR AGENESIS AND ENDOCARDIAL FIBROELASTOSIS |
| 276880 |
UROCANASE DEFICIENCY |
| 276900 |
USHER SYNDROME, TYPE I; USH1 |
| 276901 |
USHER SYNDROME, TYPE IIA; USH2A |
| 276902 |
USHER SYNDROME, TYPE IIIA; USH3A |
| 276904 |
USHER SYNDROME, TYPE IC; USH1C |
| 276950 |
VACTERL ASSOCIATION WITH HYDROCEPHALUS |
| 277000 |
MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME |
| 277100 |
VALINEMIA |
| 277150 |
VAN BOGAERT-HOZAY SYNDROME |
| 277170 |
OROFACIODIGITAL SYNDROME VI; OFD6 |
| 277175 |
VASCULAR HYALINOSIS |
| 277180 |
VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD |
| 277200 |
RIGHT VENTRICULAR HYPOPLASIA, ISOLATED |
| 277300 |
SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE; SCDO1 |
| 277320 |
VISCERAL MYOPATHY, FAMILIAL, WITH EXTERNAL OPHTHALMOPLEGIA |
| 277350 |
HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL RECESSIVE |
| 277380 |
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE |
| 277400 |
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE |
| 277410 |
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE |
| 277440 |
VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A |
| 277450 |
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1; VKCFD1 |
| 277460 |
VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF; VED |
| 277465 |
VITILIGO, PROGRESSIVE, WITH MENTAL RETARDATION AND URETHRAL DUPLICATION |
| 277470 |
PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A |
| 277480 |
VON WILLEBRAND DISEASE, TYPE 3; VWD3 |
| 277580 |
WAARDENBURG SYNDROME, TYPE 4A; WS4A |
| 277590 |
WEAVER SYNDROME 1; WVS1 |
| 277600 |
WEILL-MARCHESANI SYNDROME 1; WMS1 |
| 277610 |
WEISSENBACHER-ZWEYMULLER SYNDROME; WZS |
| 277700 |
WERNER SYNDROME; WRN |
| 277720 |
WHISTLING FACE SYNDROME, RECESSIVE FORM |
| 277730 |
WERNICKE-KORSAKOFF SYNDROME |
| 277740 |
WHITE FORELOCK WITH MALFORMATIONS |
| 277900 |
WILSON DISEASE |
| 277970 |
WISKOTT-ALDRICH SYNDROME |
| 278000 |
LYSOSOMAL ACID LIPASE DEFICIENCY |
| 278100 |
WOLMAN DISEASE WITH HYPOLIPOPROTEINEMIA AND ACANTHOCYTOSIS |
| 278150 |
HYPOTRICHOSIS 8; HYPT8 |
| 278200 |
WOOLLY HAIR, HYPOTRICHOSIS, EVERTED LOWER LIP, AND OUTSTANDING EARS |
| 278250 |
WRINKLY SKIN SYNDROME; WSS |
| 278300 |
XANTHINURIA, TYPE I |
| 278700 |
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA |
| 278720 |
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC |
| 278730 |
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD |
| 278740 |
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E |
| 278750 |
XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV |
| 278760 |
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF |
| 278780 |
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG |
| 278800 |
DE SANCTIS-CACCHIONE SYNDROME |
| 278850 |
46,XX SEX REVERSAL 2; SRXX2 |
| 278900 |
XYLOSIDASE DEFICIENCY |
| 279000 |
YOUNG SYNDROME |
| 280000 |
COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME; CHIME |
| 300000 |
OPITZ GBBB SYNDROME, X-LINKED |
| 300004 |
CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA |
| 300009 |
DENT DISEASE 1 |
| 300018 |
46,XY SEX REVERSAL 2; SRXY2 |
| 300030 |
DEAFNESS, X-LINKED 3; DFNX3 |
| 300042 |
ALOPECIA, CONGENITAL |
| 300046 |
MENTAL RETARDATION, X-LINKED 23; MRX23 |
| 300047 |
MENTAL RETARDATION, X-LINKED 20; MRX20 |
| 300048 |
INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED |
| 300049 |
HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT |
| 300055 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC 13; MRXS13 MENTAL RETARDATION, X-LINKED 79; MRX79 |
| 300062 |
MENTAL RETARDATION, X-LINKED 14; MRX14 |
| 300064 |
MENTAL RETARDATION, X-LINKED, WITH CRANIOFACIAL DYSMORPHISM |
| 300066 |
DEAFNESS, X-LINKED 4; DFNX4 |
| 300067 |
LISSENCEPHALY, X-LINKED, 1; LISX1 |
| 300068 |
ANDROGEN INSENSITIVITY SYNDROME; AIS |
| 300071 |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A; CSNB2A |
| 300073 |
FETAL AKINESIA SYNDROME, X-LINKED |
| 300076 |
IMMUNONEUROLOGIC DISORDER, X-LINKED |
| 300085 |
CONE-ROD DYSTROPHY, X-LINKED, 2; CORDX2 |
| 300088 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9; EIEE9 |
| 300100 |
ADRENOLEUKODYSTROPHY; ALD |
| 300106 |
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED |
| 300125 |
MIGRAINE, FAMILIAL TYPICAL, SUSCEPTIBILITY TO, 2 |
| 300143 |
MENTAL RETARDATION, X-LINKED 21; MRX21 |
| 300166 |
MICROPHTHALMIA, SYNDROMIC 2; MCOPS2 |
| 300200 |
ADRENAL HYPOPLASIA, CONGENITAL; AHC |
| 300209 |
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 |
| 300215 |
LISSENCEPHALY, X-LINKED, 2; LISX2 |
| 300220 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC 10; MRXS10 |
| 300232 |
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH MENTAL DETERIORATION |
| 300238 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11 |
| 300240 |
HOYERAAL-HREIDARSSON SYNDROME; HHS |
| 300243 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; MRXSCH |
| 300245 |
PTOSIS, HEREDITARY CONGENITAL 2 |
| 300257 |
DANON DISEASE |
| 300258 |
ROIFMAN SYNDROME |
| 300260 |
LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL |
| 300266 |
SPASTIC PARAPLEGIA 16, X-LINKED; SPG16 |
| 300270 |
ADRENOMYODYSTROPHY |
| 300271 |
MENTAL RETARDATION, X-LINKED 72; MRX72 |
| 300273 |
GOITER, MULTINODULAR 2; MNG2 |
| 300280 |
URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME |
| 300299 |
NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; SCNX |
| 300310 |
AGAMMAGLOBULINEMIA, X-LINKED, TYPE 2; AGMX2 |
| 300322 |
LESCH-NYHAN SYNDROME; LNS |
| 300323 |
KELLEY-SEEGMILLER SYNDROME |
| 300331 |
THROMBOCYTHEMIA, X-LINKED; THCYTX |
| 300337 |
HYPOMELANOSIS OF ITO; HMI |
| 300352 |
CREATINE DEFICIENCY SYNDROME, X-LINKED |
| 300354 |
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT |
| 300360 |
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE |
| 300367 |
THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA; XLTDA |
| 300373 |
OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS |
| 300388 |
POLYMICROGYRIA, BILATERAL PERISYLVIAN; BPP |
| 300400 |
SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1 |
| 300423 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH |
| 300425 |
AUTISM, SUSCEPTIBILITY TO, X-LINKED 1; AUTSX1 |
| 300431 |
ATKIN-FLAITZ SYNDROME |
| 300436 |
MENTAL RETARDATION, X-LINKED 46; MRX46 |
| 300438 |
17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY |
| 300471 |
CUBITUS VALGUS WITH MENTAL RETARDATION AND UNUSUAL FACIES |
| 300472 |
CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA |
| 300486 |
MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE |
| 300488 |
MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 1; MENOQ1 |
| 300489 |
SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3; SMAX3 |
| 300491 |
EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS |
| 300494 |
ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1; ASPGX1 |
| 300495 |
AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2 MENTAL RETARDATION, X-LINKED, INCLUDED |
| 300496 |
AUTISM, SUSCEPTIBILITY TO, X-LINKED 3; AUTSX3 |
| 300497 |
ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2; ASPGX2 |
| 300500 |
ALBINISM, OCULAR, TYPE I; OA1 |
| 300523 |
ALLAN-HERNDON-DUDLEY SYNDROME; AHDS |
| 300534 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ |
| 300539 |
NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS; NSIAD |
| 300554 |
HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE |
| 300558 |
MENTAL RETARDATION, X-LINKED 30; MRX30 |
| 300559 |
GLYCOGEN STORAGE DISEASE, TYPE IXd; GSD9D |
| 300571 |
HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE |
| 300578 |
CHROMOSOME Xp11.3 DELETION SYNDROME |
| 300580 |
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION, X-LINKED; CFTDX |
| 300600 |
ALAND ISLAND EYE DISEASE; AIED |
| 300602 |
CLARK-BARAITSER SYNDROME |
| 300607 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8; EIEE8 |
| 300612 |
BROOKS-WISNIEWSKI-BROWN SYNDROME |
| 300614 |
DEAFNESS, X-LINKED 5; DFNX5 |
| 300619 |
CATARACT, ATAXIA, SHORT STATURE, AND MENTAL RETARDATION |
| 300623 |
FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS |
| 300624 |
FRAGILE X MENTAL RETARDATION SYNDROME |
| 300650 |
ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS; OASD |
| 300652 |
ANGIOMA SERPIGINOSUM, X-LINKED |
| 300653 |
PHOSPHOGLYCERATE KINASE 1 DEFICIENCY |
| 300659 |
MENTAL RETARDATION, X-LINKED 93; MRX93 |
| 300660 |
LEUKOENCEPHALOPATHY WITH METAPHYSEAL CHONDRODYSPLASIA; LKMCD |
| 300661 |
PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY |
| 300672 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2; EIEE2 |
| 300673 |
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS |
| 300676 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14 |
| 300695 |
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM |
| 300696 |
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY; XMPMA EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED, INCLUDED; EDMD6, INCLUDED |
| 300700 |
ALBINISM-DEAFNESS SYNDROME; ADFN |
| 300703 |
SPINOCEREBELLAR ATAXIA, X-LINKED 5; SCAX5 |
| 300712 |
CRANIOFACIOSKELETAL SYNDROME |
| 300717 |
MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE |
| 300718 |
MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET |
| 300719 |
DEAFNESS, CATARACT, RETINITIS PIGMENTOSA, AND SPERM ABNORMALITIES |
| 300750 |
SPASTIC PARAPLEGIA 34, X-LINKED; SPG34 |
| 300751 |
ANEMIA, SIDEROBLASTIC, X-LINKED; XLSA |
| 300755 |
AGAMMAGLOBULINEMIA, X-LINKED; XLA |
| 300801 |
CHROMOSOME Xp11.23-p11.22 DUPLICATION SYNDROME |
| 301000 |
WISKOTT-ALDRICH SYNDROME; WAS |
| 301040 |
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX |
| 301050 |
ALPORT SYNDROME, X-LINKED; ATS |
| 301200 |
AMELOGENESIS IMPERFECTA, TYPE IE; AI1E |
| 301201 |
AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 2 |
| 301220 |
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS; PDR |
| 301310 |
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; ASAT |
| 301410 |
NEURAL TUBE DEFECTS, X-LINKED SPINA BIFIDA, X-LINKED, INCLUDED |
| 301500 |
FABRY DISEASE |
| 301590 |
MICROPHTHALMIA, SYNDROMIC 4; MCOPS4 |
| 301700 |
ANOSMIA |
| 301790 |
SPINOCEREBELLAR ATAXIA, X-LINKED 3 |
| 301800 |
ANUS, IMPERFORATE |
| 301815 |
ARTHROGRYPOSIS, ECTODERMAL DYSPLASIA, CLEFT LIP/PALATE, AND DEVELOPMENTAL DELAY |
| 301830 |
SPINAL MUSCULAR ATROPHY, X-LINKED 2; SMAX2 |
| 301835 |
ARTS SYNDROME; ARTS |
| 301840 |
SPINOCEREBELLAR ATAXIA, X-LINKED 4 |
| 301845 |
BAZEX SYNDROME; BZX |
| 301900 |
BORJESON-FORSSMAN-LEHMANN SYNDROME; BFLS |
| 301940 |
BRACHYDACTYLY, MONONEN TYPE |
| 301950 |
BRANCHIAL ARCH SYNDROME, X-LINKED |
| 302000 |
BULLOUS DYSTROPHY, HEREDITARY MACULAR TYPE |
| 302030 |
CALVARIAL HYPEROSTOSIS |
| 302045 |
CARDIOMYOPATHY, DILATED, 3B; CMD3B |
| 302060 |
BARTH SYNDROME; BTHS |
| 302200 |
CATARACT, CONGENITAL, X-LINKED; CXN |
| 302300 |
MICROPHTHALMIA, ISOLATED, WITH CATARACT 3; MCOPCT3 |
| 302350 |
NANCE-HORAN SYNDROME; NHS |
| 302380 |
CATEL-MANZKE SYNDROME |
| 302400 |
CENTRAL INCISORS, ABSENCE OF |
| 302500 |
SPINOCEREBELLAR ATAXIA, X-LINKED 1; SCAX1 |
| 302600 |
SPINOCEREBELLAR ATAXIA, X-LINKED 2 |
| 302700 |
CEREBRAL SCLEROSIS, DIFFUSE, SCHOLZ TYPE |
| 302800 |
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1; CMTX1 |
| 302801 |
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2; CMTX2 |
| 302802 |
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3; CMTX3 |
| 302803 |
CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED, WITH APLASIA CUTIS CONGENITA |
| 302900 |
CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA, COMBINED |
| 302905 |
CHARGE-LIKE SYNDROME, X-LINKED |
| 302950 |
CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1 |
| 302960 |
CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2 |
| 303100 |
CHOROIDEREMIA; CHM |
| 303110 |
CHOROIDEREMIA, DEAFNESS, AND MENTAL RETARDATION |
| 303350 |
MASA SYNDROME |
| 303400 |
CLEFT PALATE, X-LINKED; CPX CLEFT PALATE WITH ANKYLOGLOSSIA, INCLUDED |
| 303600 |
COFFIN-LOWRY SYNDROME; CLS |
| 303650 |
COLONIC ATRESIA |
| 303700 |
BLUE CONE MONOCHROMACY; BCM |
| 303800 |
COLORBLINDNESS, PARTIAL, DEUTAN SERIES; CBD |
| 303900 |
COLORBLINDNESS, PARTIAL, PROTAN SERIES; CBP |
| 304020 |
CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1 |
| 304030 |
CONE DYSTROPHY, X-LINKED, WITH TAPETAL-LIKE SHEEN |
| 304050 |
AICARDI SYNDROME; AIC |
| 304100 |
CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED |
| 304110 |
CRANIOFRONTONASAL SYNDROME; CFNS |
| 304120 |
OTOPALATODIGITAL SYNDROME, TYPE II; OPD2 |
| 304150 |
OCCIPITAL HORN SYNDROME; OHS |
| 304200 |
CUTIS VERTICIS GYRATA, THYROID APLASIA, AND MENTAL RETARDATION |
| 304300 |
CYANIDE, INABILITY TO SMELL |
| 304340 |
DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES |
| 304400 |
DEAFNESS, X-LINKED 2; DFNX2 |
| 304500 |
DEAFNESS, X-LINKED 1; DFNX1 |
| 304590 |
DEAFNESS, HIGH-FREQUENCY SENSORINEURAL, X-LINKED |
| 304700 |
MOHR-TRANEBJAERG SYNDROME; MTS |
| 304730 |
DERMOIDS OF CORNEA; CND |
| 304790 |
IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED; IPEX |
| 304800 |
DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED |
| 304900 |
DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE |
| 304950 |
DYGGVE-MELCHIOR-CLAUSEN SYNDROME, X-LINKED |
| 305000 |
DYSKERATOSIS CONGENITA, X-LINKED; DKCX |
| 305100 |
ECTODERMAL DYSPLASIA, HYPOHIDROTIC, X-LINKED; XHED |
| 305200 |
EHLERS-DANLOS SYNDROME, TYPE V |
| 305350 |
EPIDERMODYSPLASIA VERRUCIFORMIS, X-LINKED; EDVX; EDV2 |
| 305390 |
EXUDATIVE VITREORETINOPATHY 2, X-LINKED; EVR2 |
| 305400 |
AARSKOG-SCOTT SYNDROME; AAS |
| 305450 |
OPITZ-KAVEGGIA SYNDROME; OKS |
| 305550 |
FINGERPRINT BODY MYOPATHY |
| 305600 |
FOCAL DERMAL HYPOPLASIA; FDH |
| 305620 |
FRONTOMETAPHYSEAL DYSPLASIA; FMD |
| 305690 |
GENITOURINARY TRACT ANOMALIES |
| 305700 |
SPERMATOGENIC FAILURE, X-LINKED, 1; SPGFX1 |
| 305800 |
MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS, X-LINKED |
| 306000 |
GLYCOGEN STORAGE DISEASE IXa1; GSD9A1 |
| 306300 |
GRANULOMAS, CONGENITAL CEREBRAL |
| 306400 |
GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGD |
| 306500 |
GYNECOMASTIA, FAMILIAL |
| 306700 |
HEMOPHILIA A; HEMA |
| 306800 |
HEMOPHILIA A WITH VASCULAR ABNORMALITY |
| 306900 |
HEMOPHILIA B; HEMB |
| 306950 |
HERNIA, ANTERIOR DIAPHRAGMATIC |
| 306955 |
HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1 |
| 306960 |
HHHH SYNDROME |
| 306980 |
HIRSCHSPRUNG DISEASE WITH TYPE D BRACHYDACTYLY |
| 306990 |
HOLOPROSENCEPHALY WITH FETAL AKINESIA/HYPOKINESIA SEQUENCE |
| 307000 |
HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS; HSAS |
| 307010 |
HYDROCEPHALUS WITH CEREBELLAR AGENESIS |
| 307030 |
HYPERGLYCEROLEMIA |
| 307150 |
HYPERTRICHOSIS, CONGENITAL GENERALIZED; HTC2 |
| 307200 |
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III; IGHD3 |
| 307300 |
HYPOGONADISM, MALE |
| 307500 |
HYPOGONADISM, MALE, WITH MENTAL RETARDATION AND SKELETAL ANOMALIES |
| 307700 |
HYPOPARATHYROIDISM, X-LINKED; HYPX |
| 307800 |
HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; XLHR |
| 307830 |
HYPOURICEMIA, FAMILIAL RENAL, DUE TO TUBULAR HYPERSECRETION |
| 308050 |
CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS |
| 308100 |
ICHTHYOSIS, X-LINKED; XLI |
| 308200 |
ICHTHYOSIS AND MALE HYPOGONADISM RUD SYNDROME, INCLUDED |
| 308205 |
IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME |
| 308220 |
IMMUNODEFICIENCY, X-LINKED, WITH DEFICIENCY OF 115,000 DALTON SURFACE GLYCOPROTEIN |
| 308230 |
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1 |
| 308240 |
LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1; XLP1 |
| 308250 |
IMMUNOGLOBULIN M, LEVEL OF |
| 308280 |
IMPACTED TEETH, MULTIPLE |
| 308300 |
INCONTINENTIA PIGMENTI; IP |
| 308350 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1; EIEE1 |
| 308500 |
IRIS HYPOPLASIA WITH GLAUCOMA; IHG |
| 308600 |
JAUNDICE, FAMILIAL OBSTRUCTIVE, OF INFANCY |
| 308700 |
KALLMANN SYNDROME 1; KAL1 |
| 308750 |
KALLMANN SYNDROME WITH SPASTIC PARAPLEGIA |
| 308800 |
KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED; KFSDX |
| 308830 |
KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY |
| 308850 |
LARYNGEAL ABDUCTOR PARALYSIS |
| 308905 |
LEBER OPTIC ATROPHY, SUSCEPTIBILITY TO |
| 308930 |
LEIGH SYNDROME, X-LINKED |
| 308940 |
LEIOMYOMATOSIS, DIFFUSE, WITH ALPORT SYNDROME; DL-ATS |
| 308950 |
LESCH-NYHAN PHENOTYPE WITH NORMAL HGPRT |
| 308960 |
LEUKEMIA, ACUTE, ?X-LINKED |
| 308990 |
PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS |
| 309000 |
LOWE OCULOCEREBRORENAL SYNDROME; OCRL |
| 309100 |
MACULAR DYSTROPHY, X-LINKED |
| 309120 |
SPERMATOGENIC FAILURE, X-LINKED, 2; SPGFX2 |
| 309200 |
MAJOR AFFECTIVE DISORDER 2; MAFD2 |
| 309300 |
MEGALOCORNEA; MGC1 |
| 309350 |
MELNICK-NEEDLES SYNDROME; MNS |
| 309400 |
MENKES DISEASE |
| 309480 |
MENTAL RETARDATION AND PSORIASIS |
| 309500 |
RENPENNING SYNDROME 1; RENS1 |
| 309510 |
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME; PRTS |
| 309520 |
LUJAN-FRYNS SYNDROME |
| 309530 |
MENTAL RETARDATION, X-LINKED 1; MRX1 |
| 309541 |
MENTAL RETARDATION, X-LINKED 3; MRX3 |
| 309545 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC 12; MRXS12 |
| 309548 |
MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXE |
| 309555 |
MENTAL RETARDATION WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES |
| 309560 |
MENTAL RETARDATION WITH SPASTIC PARAPLEGIA AND PALMOPLANTAR HYPERKERATOSIS |
| 309580 |
MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1 |
| 309583 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR |
| 309585 |
WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS |
| 309605 |
MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME; MCS |
| 309610 |
PRIETO X-LINKED MENTAL RETARDATION SYNDROME; PRS |
| 309620 |
MENTAL RETARDATION, SKELETAL DYSPLASIA, AND ABDUCENS PALSY; MRSD |
| 309630 |
METACARPAL 4-5 FUSION; MF4 |
| 309640 |
MENTAL RETARDATION WITH SPASTIC PARAPLEGIA |
| 309800 |
MICROPHTHALMIA, SYNDROMIC 1; MCOPS1 |
| 309801 |
MICROPHTHALMIA, SYNDROMIC 7; MCOPS7 |
| 309900 |
MUCOPOLYSACCHARIDOSIS TYPE II |
| 309930 |
MUSCULAR DYSTROPHY, CARDIAC TYPE |
| 309950 |
MUSCULAR DYSTROPHY, HEMIZYGOUS LETHAL TYPE |
| 310000 |
MUSCULAR DYSTROPHY, MABRY TYPE |
| 310095 |
MUSCULAR DYSTROPHY, PROGRESSIVE PECTORODORSAL |
| 310200 |
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD |
| 310300 |
EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1 |
| 310350 |
MYELOLYMPHATIC INSUFFICIENCY |
| 310370 |
MYOCLONIC EPILEPSY, PROGRESSIVE |
| 310400 |
MYOPATHY, CENTRONUCLEAR, X-LINKED; CNMX |
| 310440 |
MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX |
| 310460 |
MYOPIA 1, X-LINKED; MYP1 |
| 310465 |
N SYNDROME; NSX |
| 310468 |
NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE; XRN |
| 310470 |
NEUROPATHY, HEREDITARY SENSORY, X-LINKED |
| 310490 |
COWCHOCK SYNDROME |
| 310500 |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A; CSNB1A |
| 310600 |
NORRIE DISEASE; ND |
| 310700 |
NYSTAGMUS 1, CONGENITAL, X-LINKED; NYS1 |
| 310800 |
NYSTAGMUS, MYOCLONIC |
| 310900 |
OCCIPITAL HAIR, WHITE LOCK OF |
| 310980 |
OMPHALOCELE, X-LINKED |
| 311000 |
OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA; OPEM |
| 311050 |
OPTIC ATROPHY 2; OPA2 |
| 311070 |
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5 |
| 311100 |
OPTIC ATROPHY--SPASTIC PARAPLEGIA SYNDROME |
| 311150 |
OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA |
| 311200 |
OROFACIODIGITAL SYNDROME I; OFD1 |
| 311250 |
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO |
| 311300 |
OTOPALATODIGITAL SYNDROME, TYPE I; OPD1 |
| 311360 |
PREMATURE OVARIAN FAILURE 1; POF1 |
| 311400 |
PAINE SYNDROME |
| 311450 |
PALLISTER W SYNDROME |
| 311510 |
PARKINSONISM, EARLY-ONSET, WITH MENTAL RETARDATION |
| 311895 |
PIERRE ROBIN SEQUENCE WITH FACIAL AND DIGITAL ANOMALIES |
| 311900 |
TARP SYNDROME; TARPS |
| 312000 |
PANHYPOPITUITARISM, X-LINKED; PHPX |
| 312060 |
PROPERDIN DEFICIENCY, X-LINKED; CFPD |
| 312080 |
PELIZAEUS-MERZBACHER DISEASE; PMD |
| 312100 |
PSEUDOHERMAPHRODITISM, INCOMPLETE MALE, TYPE I |
| 312150 |
MULTIPLE PTERYGIUM SYNDROME, X-LINKED |
| 312170 |
PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD |
| 312190 |
RADIAL APLASIA, X-LINKED |
| 312200 |
RADIAL LOOP, PLAIN, ON RIGHT INDEX FINGER |
| 312210 |
RADIATION SENSITIVITY OF NATURAL KILLER ACTIVITY |
| 312300 |
ANDROGEN INSENSITIVITY, PARTIAL; PAIS |
| 312500 |
RETICULOENDOTHELIOSIS, X-LINKED |
| 312530 |
RETINAL DETACHMENT |
| 312550 |
RETINAL DYSPLASIA, PRIMARY; PRD |
| 312600 |
RETINITIS PIGMENTOSA 2; RP2 |
| 312612 |
RETINITIS PIGMENTOSA 6; RP6 |
| 312700 |
RETINOSCHISIS 1, X-LINKED, JUVENILE; RS1 |
| 312750 |
RETT SYNDROME; RTT |
| 312780 |
RUSSELL-SILVER SYNDROME, X-LINKED |
| 312830 |
SCARF SYNDROME |
| 312840 |
SCHIMKE X-LINKED MENTAL RETARDATION SYNDROME |
| 312860 |
SCOTT CRANIODIGITAL SYNDROME WITH MENTAL RETARDATION |
| 312863 |
COMBINED IMMUNODEFICIENCY, X-LINKED; CIDX |
| 312870 |
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1 |
| 312910 |
SPASTIC PARAPARESIS AND DEAFNESS |
| 312920 |
SPASTIC PARAPLEGIA 2, X-LINKED; SPG2 |
| 313200 |
SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 |
| 313350 |
SPLIT-HAND/FOOT MALFORMATION 2; SHFM2 |
| 313400 |
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT |
| 313420 |
SPONDYLOMETAPHYSEAL DYSPLASIA, X-LINKED |
| 313490 |
TAURODONTISM, MICRODONTIA, AND DENS INVAGINATUS |
| 313500 |
TOOTH AGENESIS, SELECTIVE, X-LINKED, 1; STHAGX1 |
| 313850 |
THORACOABDOMINAL SYNDROME; THAS |
| 313900 |
THROMBOCYTOPENIA 1; THC1 |
| 314000 |
THROMBOCYTOPENIA WITH ELEVATED SERUM IgA AND RENAL DISEASE |
| 314050 |
THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED; XLTT |
| 314240 |
TOOTH SIZE |
| 314250 |
DYSTONIA 3, TORSION, X-LINKED; DYT3 |
| 314300 |
TORTICOLLIS, KELOIDS, CRYPTORCHIDISM, AND RENAL DYSPLASIA; TKCR |
| 314320 |
TRIGONOCEPHALY WITH SHORT STATURE AND DEVELOPMENTAL DELAY |
| 314360 |
ULNAR HYPOPLASIA WITH LOBSTER-CLAW DEFORMITY OF FEET |
| 314380 |
UNIQUE GREEN PHENOMENON |
| 314390 |
VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX |
| 314400 |
CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVD1 |
| 314500 |
VAN DEN BOSCH SYNDROME |
| 314550 |
VESICOURETERAL REFLUX, X-LINKED; VURX |
| 314560 |
VON WILLEBRAND DISEASE, X-LINKED FORM |
| 314570 |
WIDOW'S PEAK SYNDROME |
| 314580 |
WIEACKER SYNDROME |
| 314600 |
WILDERVANCK SYNDROME |
| 315000 |
ZONULAR CATARACT AND NYSTAGMUS |
| 400043 |
DEAFNESS, Y-LINKED 1; DFNY1 |
| 415000 |
SPERMATOGENIC FAILURE, Y-LINKED, 2; SPGFY2 |
| 424500 |
GONADOBLASTOMA; GBY |
| 425500 |
HAIRY EARS, Y-LINKED |
| 475000 |
GROWTH CONTROL, Y-CHROMOSOME INFLUENCED; GCY |
| 500001 |
LEBER OPTIC ATROPHY AND DYSTONIA |
| 500002 |
MITOCHONDRIAL MYOPATHY WITH DIABETES |
| 500003 |
STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL |
| 500007 |
CYCLIC VOMITING SYNDROME; CVS CYCLIC VOMITING SYNDROME WITH NEUROMUSCULAR DISEASE, INCLUDED |
| 502500 |
ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL |
| 515000 |
CHLORAMPHENICOL TOXICITY |
| 520000 |
DIABETES-DEAFNESS SYNDROME, MATERNALLY TRANSMITTED |
| 530000 |
KEARNS-SAYRE SYNDROME; KSS |
| 535000 |
LEBER OPTIC ATROPHY |
| 540000 |
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS |
| 545000 |
MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF |
| 550500 |
MYOGLOBINURIA, RECURRENT |
| 551000 |
MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE; LIMM |
| 551500 |
NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA |
| 553000 |
ONCOCYTOMA |
| 557000 |
PEARSON MARROW-PANCREAS SYNDROME |
| 560000 |
RENAL TUBULOPATHY, DIABETES MELLITUS, AND CEREBELLAR ATAXIA |
| 580000 |
DEAFNESS, AMINOGLYCOSIDE-INDUCED |
| 598500 |
WOLFRAM SYNDROME, MITOCHONDRIAL FORM |
| 600000 |
SPONDYLOCAMPTODACTYLY |
| 600001 |
PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS; PACHD |
| 600002 |
EIKEN SKELETAL DYSPLASIA |
| 600057 |
EXSTROPHY OF BLADDER BLADDER EXSTROPHY AND EPISPADIAS COMPLEX, INCLUDED; BEEC, INCLUDED |
| 600059 |
RETINITIS PIGMENTOSA 13; RP13 |
| 600060 |
DEAFNESS, AUTOSOMAL RECESSIVE 2; DFNB2 |
| 600072 |
FATAL FAMILIAL INSOMNIA; FFI |
| 600080 |
MYELOCYTIC LEUKEMIA-LIKE SYNDROME, FAMILIAL, CHRONIC |
| 600081 |
VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B; VDDR1B |
| 600082 |
PROSTATIC HYPERPLASIA, BENIGN; BPH |
| 600089 |
PANCREATIC BETA CELL AGENESIS WITH NEONATAL DIABETES MELLITUS |
| 600092 |
CHONDRODYSPLASIA-PSEUDOHERMAPHRODITISM SYNDROME |
| 600093 |
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH CHARACTERISTIC FACIES |
| 600096 |
PUERTO RICAN INFANT HYPOTONIA SYNDROME |
| 600101 |
DEAFNESS, AUTOSOMAL DOMINANT 2A; DFNA2A |
| 600105 |
RETINITIS PIGMENTOSA 12; RP12 |
| 600110 |
STARGARDT DISEASE 3; STGD3 |
| 600116 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2 |
| 600117 |
DYSPHASIA, FAMILIAL DEVELOPMENTAL |
| 600118 |
WARBURG MICRO SYNDROME 1; WARBM1 |
| 600121 |
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3; RCDP3 |
| 600122 |
MALE PSEUDOHERMAPHRODITISM/MENTAL RETARDATION SYNDROME, VERLOES TYPE |
| 600123 |
ATRIOVENTRICULAR SEPTAL DEFECT WITH BLEPHAROPHIMOSIS AND ANAL AND RADIAL DEFECTS |
| 600131 |
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 1; ECA1 |
| 600132 |
RETINITIS PIGMENTOSA 14; RP14 |
| 600138 |
RETINITIS PIGMENTOSA 11; RP11 |
| 600142 |
CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY; CARASIL |
| 600143 |
CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8 |
| 600145 |
SACRAL DEFECT WITH ANTERIOR MENINGOCELE |
| 600146 |
SPASTIC PARAPLEGIA 5B, AUTOSOMAL RECESSIVE; SPG5B |
| 600155 |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2; HSCR2 |
| 600156 |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 5; HSCR5 |
| 600159 |
PTERYGIUM COLLI AND MENTAL RETARDATION WITH FACIAL AND DIGITAL ANOMALIES |
| 600165 |
NANOPHTHALMOS 1; NNO1 |
| 600166 |
HYPERPARATHYROIDISM, PRIMARY, CAUSED BY WATER CLEAR CELL HYPERPLASIA |
| 600171 |
GONADAL AGENESIS |
| 600175 |
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE |
| 600176 |
PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS |
| 600193 |
WAARDENBURG SYNDROME, TYPE 2B; WS2B |
| 600195 |
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL; VMCM |
| 600202 |
DYSLEXIA, SUSCEPTIBILITY TO, 2; DYX2 |
| 600204 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 2; EDM2 |
| 600208 |
MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS |
| 600209 |
EXOSTOSES, MULTIPLE, TYPE III; EXT3 |
| 600223 |
SPINOCEREBELLAR ATAXIA 4; SCA4 |
| 600224 |
SPINOCEREBELLAR ATAXIA 5; SCA5 |
| 600231 |
PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB |
| 600251 |
FACIAL CLEFTING, OBLIQUE, 1; OBLFC1 |
| 600252 |
LOWRY-MACLEAN SYNDROME |
| 600256 |
HYDROCEPHALUS, AUTOSOMAL DOMINANT |
| 600257 |
CHROMOSOME 8q12.1-q21.2 DELETION SYNDROME |
| 600263 |
HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO |
| 600268 |
APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS |
| 600269 |
SHORT TARSUS WITH ABSENCE OF LOWER EYELASHES; STALE |
| 600273 |
POLYCYSTIC KIDNEY DISEASE, INFANTILE SEVERE, WITH TUBEROUS SCLEROSIS; PKDTS |
| 600274 |
FRONTOTEMPORAL DEMENTIA; FTD |
| 600302 |
FRYNS MACROCEPHALY |
| 600309 |
ATRIOVENTRICULAR SEPTAL DEFECT 3; AVSD3 |
| 600316 |
DEAFNESS, AUTOSOMAL RECESSIVE 3; DFNB3 |
| 600325 |
AMINOPTERIN SYNDROME SINE AMINOPTERIN; ASSA |
| 600329 |
OSTEOPETROSIS AND INFANTILE NEUROAXONAL DYSTROPHY |
| 600331 |
PARC SYNDROME |
| 600332 |
RIPPLING MUSCLE DISEASE 1; RMD1 |
| 600333 |
MOTOR NEURON DISEASE WITH DEMENTIA AND OPHTHALMOPLEGIA |
| 600334 |
TIBIAL MUSCULAR DYSTROPHY, TARDIVE |
| 600335 |
SUCCINIC ACIDEMIA |
| 600343 |
PAROTID SALIVARY GLANDS, POLYCYSTIC DYSGENETIC DISEASE OF; PDDP |
| 600348 |
BAND HETEROTOPIA OF BRAIN |
| 600351 |
ENTEROPATHY, FAMILIAL, WITH VILLOUS EDEMA AND IMMUNOGLOBULIN G2 DEFICIENCY |
| 600360 |
APLASIA CUTIS CONGENITA OF LIMBS, AUTOSOMAL RECESSIVE |
| 600361 |
HEREDITARY MOTOR AND SENSORY NEUROPATHY V |
| 600363 |
SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT; SPG6 |
| 600373 |
CODAS SYNDROME |
| 600376 |
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2; HHT2 PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED, INCLUDED |
| 600383 |
MESOMELIA-SYNOSTOSES SYNDROME |
| 600384 |
APHALANGIA, PARTIAL, WITH SYNDACTYLY AND DUPLICATION OF METATARSAL IV |
| 600399 |
PECTUS EXCAVATUM, MACROCEPHALY, SHORT STATURE, AND DYSPLASTIC NAILS |
| 600416 |
MUSCULAR DYSTROPHY, SCAPULOHUMERAL |
| 600419 |
ANGIOKERATOMA CORPORIS DIFFUSUM WITH ARTERIOVENOUS FISTULAS |
| 600430 |
BRACHYDACTYLY-MENTAL RETARDATION SYNDROME; BDMR |
| 600457 |
HYPERTRICHOSIS, ANTERIOR CERVICAL |
| 600458 |
ADENOMYOSIS |
| 600459 |
ARTERIAL DISSECTION WITH LENTIGINOSIS |
| 600460 |
CLEFT PALATE, CARDIAC DEFECT, GENITAL ANOMALIES, AND ECTRODACTYLY |
| 600461 |
HEMOLYTIC ANEMIA, LETHAL CONGENITAL NONSPHEROCYTIC, WITH GENITAL AND OTHER ABNORMALITIES |
| 600462 |
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1; MLASA1 |
| 600467 |
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 4 |
| 600496 |
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3; MODY3 |
| 600501 |
ABCD SYNDROME; ABCDS |
| 600510 |
GLAUCOMA-RELATED PIGMENT DISPERSION SYNDROME; GPDS1 |
| 600512 |
EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1 |
| 600513 |
EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1 |
| 600546 |
INTRAUTERINE GROWTH RETARDATION WITH INCREASED MITOMYCIN C SENSITIVITY |
| 600559 |
HYDROCEPHALUS, ENDOCARDIAL FIBROELASTOSIS, AND CATARACTS |
| 600561 |
SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY |
| 600593 |
CRANIOSYNOSTOSIS, ADELAIDE TYPE; CRSA |
| 600598 |
SETTING-SUN PHENOMENON, FAMILIAL BENIGN |
| 600624 |
CONE-ROD DYSTROPHY 1; CORD1 |
| 600625 |
OROFACIAL CLEFT 11; OFC11 |
| 600627 |
HYPERTRYPTOPHANEMIA, FAMILIAL |
| 600628 |
LOOSE ANAGEN HAIR SYNDROME |
| 600630 |
UV-SENSITIVE SYNDROME 1; UVSS1 |
| 600631 |
ENURESIS, NOCTURNAL, 1; ENUR1 |
| 600634 |
PITUITARY ADENOMA, PROLACTIN-SECRETING |
| 600638 |
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT; CFEOM3A |
| 600643 |
CAROLI DISEASE, ISOLATED |
| 600649 |
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE |
| 600652 |
DEAFNESS, AUTOSOMAL DOMINANT 4A; DFNA4A |
| 600666 |
POLYCYSTIC KIDNEY DISEASE 3, AUTOSOMAL DOMINANT; PKD3 |
| 600668 |
CHONDROCALCINOSIS 1; CCAL1 |
| 600669 |
EPILEPSY, IDIOPATHIC GENERALIZED; EIG |
| 600670 |
VARICELLA, SEVERE RECURRENT |
| 600674 |
MICROTIA-ANOTIA |
| 600679 |
DERMOID CYSTS, FAMILIAL FRONTONASAL |
| 600705 |
SATOYOSHI SYNDROME |
| 600706 |
PROXIMAL MYOPATHY WITH FOCAL DEPLETION OF MITOCHONDRIA |
| 600721 |
D-2-@HYDROXYGLUTARIC ACIDURIA 1 |
| 600736 |
VELOFACIOSKELETAL SYNDROME |
| 600737 |
INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE; IBM2 |
| 600740 |
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III; HHC3 |
| 600757 |
OROFACIAL CLEFT 3; OFC3 |
| 600771 |
DWARFISM, FAMILIAL, WITH MUSCLE SPASMS |
| 600775 |
LAMBDOID SYNOSTOSIS |
| 600776 |
FRYNS MICROPHTHALMIA SYNDROME |
| 600785 |
VITAMIN D-DEPENDENT RICKETS, TYPE 2B, WITH NORMAL VITAMIN D RECEPTOR; VDDR2B |
| 600790 |
CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL |
| 600791 |
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT; DFNB4 |
| 600792 |
DEAFNESS, AUTOSOMAL RECESSIVE 5; DFNB5 |
| 600794 |
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA; HMN5A |
| 600795 |
FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED; FTD3 |
| 600803 |
GALLBLADDER DISEASE 1; GBD1 |
| 600807 |
ASTHMA, SUSCEPTIBILITY TO |
| 600808 |
ENURESIS, NOCTURNAL, 2; ENUR2 |
| 600852 |
RETINITIS PIGMENTOSA 17; RP17 |
| 600858 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6; CMH6 |
| 600880 |
BUDD-CHIARI SYNDROME; BDCHS MEMBRANOUS OBSTRUCTION OF INFERIOR VENA CAVA, INCLUDED; MOVC, INCLUDED |
| 600881 |
CATARACT, CONGENITAL ZONULAR, WITH SUTURAL OPACITIES; CCZS |
| 600882 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B; CMT2B |
| 600884 |
CARDIOMYOPATHY, DILATED, 1B; CMD1B |
| 600886 |
HYPERFERRITINEMIA-CATARACT SYNDROME |
| 600901 |
FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE |
| 600903 |
WISKOTT-ALDRICH SYNDROME, AUTOSOMAL DOMINANT FORM |
| 600906 |
ECTODERMAL DYSPLASIA WITH MENTAL RETARDATION AND SYNDACTYLY |
| 600907 |
ENAMEL HYPOPLASIA, CATARACTS, AND AQUEDUCTAL STENOSIS |
| 600908 |
AGONADISM, 46,XY, WITH MENTAL RETARDATION, SHORT STATURE, RETARDED BONE AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS |
| 600919 |
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED |
| 600920 |
VAN DEN ENDE-GUPTA SYNDROME; VDEGS |
| 600955 |
PROPROTEIN CONVERTASE 1/3 DEFICIENCY |
| 600962 |
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK |
| 600964 |
REFSUM DISEASE WITH INCREASED PIPECOLIC ACIDEMIA; RDPA |
| 600965 |
DEAFNESS, AUTOSOMAL DOMINANT 6; DFNA6 |
| 600969 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; EDM3 EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, WITH MYOPATHY, INCLUDED |
| 600972 |
ACHONDROGENESIS, TYPE IB; ACG1B |
| 600974 |
DEAFNESS, AUTOSOMAL RECESSIVE 7; DFNB7 |
| 600975 |
GLAUCOMA 3, PRIMARY INFANTILE, B; GLC3B |
| 600977 |
CONE-ROD DYSTROPHY 5; CORD5 |
| 600987 |
CARDIAC MALFORMATION, CLEFT LIP-PALATE, MICROCEPHALY AND DIGITAL ANOMALIES |
| 600989 |
INFUNDIBULOPELVIC DYSGENESIS |
| 600991 |
HYDROCEPHALUS, SKELETAL ANOMALIES, AND MENTAL DISTURBANCE |
| 600994 |
DEAFNESS, AUTOSOMAL DOMINANT 5; DFNA5 |
| 600995 |
NEPHROTIC SYNDROME, TYPE 2; NPHS2 |
| 600996 |
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2; ARVD2 |
| 601001 |
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE |
| 601003 |
BRODY MYOPATHY |
| 601004 |
PORTAL VEIN, CAVERNOUS TRANSFORMATION OF |
| 601005 |
TIMOTHY SYNDROME; TS |
| 601016 |
MIDLINE MALFORMATIONS, MULTIPLE, WITH LIMB ABNORMALITIES AND HYPOPITUITARISM |
| 601027 |
TIBIA, ABSENCE OR HYPOPLASIA OF, WITH POLYDACTYLY, RETROCEREBELLAR ARACHNOID CYST, AND OTHER ANOMALIES |
| 601039 |
ICHTHYOSIS-MENTAL RETARDATION SYNDROME WITH LARGE KERATOHYALIN GRANULES IN THE SKIN |
| 601042 |
CHOREOATHETOSIS/SPASTICITY, EPISODIC; CSE |
| 601067 |
USHER SYNDROME, TYPE ID; USH1D USHER SYNDROME, TYPE ID/F, CDH23/PCDH15, DIGENIC, INCLUDED |
| 601068 |
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1; FAME1 |
| 601071 |
DEAFNESS, AUTOSOMAL RECESSIVE 9; DFNB9 |
| 601072 |
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8; DFNB8 |
| 601075 |
APLASIA CUTIS CONGENITA, HIGH MYOPIA, AND CONE-ROD DYSFUNCTION |
| 601076 |
MULLERIAN DUCT APLASIA, UNILATERAL RENAL AGENESIS, AND CERVICOTHORACIC SOMITE ANOMALIES; MURCS |
| 601085 |
ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, AUTOSOMAL DOMINANT; RESDAD |
| 601086 |
LATERALITY DEFECTS, AUTOSOMAL DOMINANT |
| 601088 |
CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKE FACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION |
| 601095 |
HARROD SYNDROME |
| 601096 |
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MICROMELIC |
| 601098 |
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C; CMT1C |
| 601104 |
SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1 |
| 601110 |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; CDG1D |
| 601127 |
FALLOT COMPLEX WITH SEVERE MENTAL AND GROWTH RETARDATION |
| 601144 |
BRUGADA SYNDROME 1; BRGDA1 |
| 601152 |
HEREDITARY MOTOR AND SENSORY NEUROPATHY VI |
| 601154 |
CARDIOMYOPATHY, DILATED, 1E; CMD1E |
| 601160 |
LISSENCEPHALY TYPE III AND BONE DYSPLASIA |
| 601161 |
TRISOMY 18-LIKE SYNDROME |
| 601162 |
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; SPG9 |
| 601163 |
DIAPHRAGMATIC DEFECTS, LIMB DEFICIENCIES, AND OSSIFICATION DEFECTS OF SKULL |
| 601165 |
CLEFT LIP/PALATE WITH CHARACTERISTIC FACIES, INTESTINAL MALROTATION, AND LETHAL CONGENITAL HEART DISEASE |
| 601170 |
MUSCULAR DYSTROPHY, CONGENITAL, WITH SEVERE CENTRAL NERVOUS SYSTEM ATROPHY AND ABSENCE OF LARGE MYELINATED FIBERS |
| 601186 |
MICROPHTHALMIA, SYNDROMIC 9; MCOPS9 |
| 601187 |
GURRIERI SYNDROME |
| 601200 |
PLEUROPULMONARY BLASTOMA; PPB |
| 601202 |
CATARACT, ANTERIOR POLAR, 2; CTAA2 |
| 601214 |
NAXOS DISEASE |
| 601216 |
PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA |
| 601217 |
ALOPECIA-MENTAL RETARDATION SYNDROME WITH CONVULSIONS AND HYPERGONADOTROPIC HYPOGONADISM |
| 601220 |
OSTEOPOROSIS AND OCULOCUTANEOUS HYPOPIGMENTATION SYNDROME; OOCH |
| 601222 |
CRANIOSYNOSTOSIS, PHILADELPHIA TYPE |
| 601224 |
POTOCKI-SHAFFER SYNDROME |
| 601228 |
POLYPOSIS SYNDROME, HEREDITARY MIXED, 1; HMPS1 |
| 601230 |
DERMATITIS HERPETIFORMIS, FAMILIAL |
| 601238 |
CEREBELLAR ATAXIA, CAYMAN TYPE; ATCAY |
| 601277 |
ICHTHYOSIS, LAMELLAR, 2; LI2 |
| 601286 |
CATARACT, NONNUCLEAR POLYMORPHIC CONGENITAL, AUTOSOMAL DOMINANT |
| 601316 |
DEAFNESS, AUTOSOMAL DOMINANT 10; DFNA10 |
| 601317 |
DEAFNESS, AUTOSOMAL DOMINANT 11; DFNA11 |
| 601319 |
ODONTOMICRONYCHIAL DYSPLASIA |
| 601321 |
NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS |
| 601322 |
PORENCEPHALY, CEREBELLAR HYPOPLASIA, AND INTERNAL MALFORMATIONS |
| 601331 |
RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO; CYSRD |
| 601338 |
CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS |
| 601341 |
ATROPHIA MACULOSA VARIOLIFORMIS CUTIS, FAMILIAL; AMVC |
| 601344 |
SPINAL DYSPLASIA, ANHALT TYPE |
| 601345 |
ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE |
| 601346 |
PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA, WITH OR WITHOUT TRACHEOESOPHAGEAL FISTULA |
| 601347 |
MYELODYSPLASIA, IMMUNODEFICIENCY, FACIAL DYSMORPHISM, SHORT STATURE, AND PSYCHOMOTOR DELAY |
| 601348 |
ECTRODACTYLY OF LOWER LIMBS, CONGENITAL HEART DEFECT, AND MICROGNATHIA |
| 601349 |
MICROPHTHALMIA, SYNDROMIC 8; MCOPS8 |
| 601350 |
SHORT STATURE SYNDROME, BRUSSELS TYPE |
| 601351 |
GROWTH RETARDATION, DEAFNESS, FEMORAL EPIPHYSEAL DYSPLASIA, AND LACRIMAL DUCT OBSTRUCTION |
| 601352 |
MENTAL RETARDATION, MICROCEPHALY, EPILEPSY, AND COARSE FACE |
| 601353 |
BRACHYCEPHALY, DEAFNESS, CATARACT, MICROSTOMIA, AND MENTAL RETARDATION |
| 601355 |
MICROCEPHALY, CONGENITAL HEART DISEASE, UNILATERAL RENAL AGENESIS, AND HYPOSEGMENTED LUNGS |
| 601356 |
LETHAL SHORT-LIMB SKELETAL DYSPLASIA, AL GAZALI TYPE |
| 601357 |
BRACHIAL AMELIA, CLEFT LIP, AND HOLOPROSENCEPHALY; ACLH |
| 601358 |
NICOLAIDES-BARAITSER SYNDROME; NCBRS |
| 601360 |
AMELIA, AUTOSOMAL RECESSIVE |
| 601363 |
WILMS TUMOR 4 |
| 601367 |
STROKE, ISCHEMIC |
| 601370 |
HOLOPROSENCEPHALY, SEMILOBAR, WITH CRANIOSYNOSTOSIS |
| 601371 |
CATARACT, AGE-RELATED NUCLEAR |
| 601372 |
CHOREA, REMITTING, WITH NYSTAGMUS AND CATARACT |
| 601374 |
APROSENCEPHALY AND CEREBELLAR DYSGENESIS |
| 601375 |
ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE |
| 601376 |
CHONDRODYSPLASIA, LETHAL, WITH LONG BONE ANGULATION AND MIXED BONE DENSITY |
| 601378 |
CRISPONI SYNDROME |
| 601379 |
HUNTER-MCALPINE CRANIOSYNOSTOSIS SYNDROME |
| 601382 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1; CMT4B1 |
| 601386 |
DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12 |
| 601389 |
CERVICAL RIBS, SPRENGEL ANOMALY, ANAL ATRESIA, AND URETHRAL OBSTRUCTION |
| 601399 |
PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY |
| 601410 |
DIABETES MELLITUS, TRANSIENT NEONATAL, 1 |
| 601412 |
DEAFNESS, AUTOSOMAL DOMINANT 7; DFNA7 |
| 601414 |
RETINITIS PIGMENTOSA 18; RP18 |
| 601419 |
MYOPATHY, MYOFIBRILLAR, 1; MFM1 |
| 601420 |
MICROCEPHALY, CORPUS CALLOSUM DYSGENESIS, AND CLEFT LIP/PALATE |
| 601427 |
ANTERIOR CHAMBER CLEAVAGE DISORDER, CEREBELLAR HYPOPLASIA, HYPOTHYROIDISM, AND TRACHEAL STENOSIS |
| 601438 |
RHIZOMELIC DYSPLASIA, PATTERSON-LOWRY TYPE |
| 601449 |
DEAFNESS, PROGRESSIVE, WITH STAPES FIXATION |
| 601450 |
DISLOCATION OF HIP, CONGENITAL, WITH HYPEREXTENSIBILITY OF FINGERS AND FACIAL DYSMORPHISM |
| 601451 |
NEVO SYNDROME |
| 601453 |
TRICHODENTAL DYSPLASIA |
| 601455 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D; CMT4D |
| 601457 |
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE |
| 601462 |
MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL; SCCMS |
| 601466 |
PATENT DUCTUS VENOSUS; PDV |
| 601471 |
FACIAL PARESIS, HEREDITARY CONGENITAL, 1; HCFP1 |
| 601472 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D |
| 601477 |
RIBBING DISEASE |
| 601492 |
MUCOPOLYSACCHARIDOSIS TYPE IX |
| 601493 |
CARDIOMYOPATHY, DILATED, 1C; CMD1C CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION, INCLUDED |
| 601494 |
CARDIOMYOPATHY, DILATED, 1D; CMD1D |
| 601499 |
AXENFELD-RIEGER SYNDROME, TYPE 2; RIEG2 |
| 601518 |
PROSTATE CANCER, HEREDITARY, 1; HPC1 |
| 601543 |
DEAFNESS, AUTOSOMAL DOMINANT 12; DFNA12 |
| 601544 |
DEAFNESS, AUTOSOMAL DOMINANT 3A; DFNA3A |
| 601549 |
ALACRIMA, CONGENITAL |
| 601552 |
ECTOPIA LENTIS, SPONTANEOUS FILTERING BLEBS, AND CRANIOFACIAL DYSMORPHISM |
| 601553 |
HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY; HJMD |
| 601559 |
STUVE-WIEDEMANN SYNDROME |
| 601560 |
MULTIPLE EPIPHYSEAL DYSPLASIA WITH ROBIN PHENOTYPE |
| 601561 |
DYSSEGMENTAL DYSPLASIA WITH GLAUCOMA |
| 601583 |
WILMS TUMOR 5; WT5 |
| 601596 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; CMT4C |
| 601606 |
TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1 |
| 601608 |
SPASTIC PARAPLEGIA AND EVANS SYNDROME |
| 601612 |
LUNG AGENESIS, CONGENITAL HEART DEFECTS, AND THUMB ANOMALIES SYNDROME; LACHT |
| 601616 |
IRIS PIGMENT EPITHELIUM ANOMALIES |
| 601626 |
LEUKEMIA, ACUTE MYELOID; AML |
| 601631 |
IRIDOGONIODYSGENESIS, TYPE 1; IRID1 |
| 601650 |
PARAGANGLIOMAS 2; PGL2 |
| 601665 |
OBESITY LEANNESS, INCLUDED |
| 601666 |
DIABETES MELLITUS, INSULIN-DEPENDENT, 15; IDDM15 |
| 601668 |
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION; SEMDAD |
| 601675 |
TRICHOTHIODYSTROPHY, PHOTOSENSITIVE; TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION, INCLUDED |
| 601678 |
BARTTER SYNDROME, ANTENATAL, TYPE 1 |
| 601680 |
ARTHROGRYPOSIS, DISTAL, TYPE 2B; DA2B |
| 601682 |
GLAUCOMA 1, OPEN ANGLE, C; GLC1C |
| 601700 |
SEBACEOUS GLAND HYPERPLASIA, FAMILIAL PRESENILE |
| 601701 |
ARTHROGRYPOSIS AND ECTODERMAL DYSPLASIA |
| 601705 |
T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY |
| 601706 |
YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME |
| 601707 |
CRANIOFACIAL MALFORMATIONS, ASYMMETRIC, WITH POLYSYNDACTYLY AND ABNORMAL SKIN AND GUT DEVELOPMENT |
| 601708 |
SUPERIOR TRANSVERSE SCAPULAR LIGAMENT, CALCIFICATION OF, FAMILIAL |
| 601709 |
QUEBEC PLATELET DISORDER; QPD |
| 601759 |
PREAXIAL HALLUCAL POLYDACTYLY |
| 601764 |
SEIZURES, BENIGN FAMILIAL INFANTILE, 1; BFIS1 |
| 601776 |
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE |
| 601777 |
CONE-ROD DYSTROPHY 6; CORD6 |
| 601780 |
CEROID LIPOFUSCINOSIS, NEURONAL, 6; CLN6 |
| 601794 |
COLOBOMA-OBESITY-HYPOGENITALISM-MENTAL RETARDATION SYNDROME |
| 601803 |
PALLISTER-KILLIAN SYNDROME; PKS |
| 601808 |
CHROMOSOME 18q DELETION SYNDROME |
| 601809 |
SPONDYLOSPINAL THORACIC DYSOSTOSIS |
| 601811 |
PREMATURE AGING SYNDROME, OKAMOTO TYPE |
| 601812 |
PREMATURE AGING SYNDROME, PENTTINEN TYPE |
| 601813 |
EXUDATIVE VITREORETINOPATHY 4; EVR4 |
| 601815 |
PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY |
| 601816 |
BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; BILIQTL1 |
| 601820 |
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2; HHF2 |
| 601829 |
ACROFACIAL DYSOSTOSIS, PALAGONIA TYPE |
| 601846 |
VACUOLAR NEUROMYOPATHY |
| 601847 |
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2; PFIC2 |
| 601853 |
CEREBELLOTRIGEMINAL DERMAL DYSPLASIA |
| 601859 |
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; ALPS |
| 601868 |
DEAFNESS, AUTOSOMAL DOMINANT 13; DFNA13 |
| 601884 |
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1; BMND1 HIGH BONE MASS, INCLUDED; HBM, INCLUDED |
| 601894 |
GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2; GFND2 |
| 601927 |
LYMPHEDEMA, CARDIAC SEPTAL DEFECTS, AND CHARACTERISTIC FACIES |
| 601941 |
DIABETES MELLITUS, INSULIN-DEPENDENT, 6; IDDM6 |
| 601942 |
DIABETES MELLITUS, INSULIN-DEPENDENT, 10; IDDM10 |
| 601952 |
KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA |
| 601954 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G; LGMD2G |
| 601957 |
ODONTOTRICHOUNGUAL-DIGITAL-PALMAR SYNDROME |
| 601976 |
OTOFACIOOSSEOUS-GONADAL SYNDROME |
| 601977 |
THROMBOCYTHEMIA 2; THCYT2 |
| 601979 |
HYPERZINCEMIA WITH FUNCTIONAL ZINC DEPLETION |
| 601992 |
FRIEDREICH ATAXIA 2 |
| 602014 |
HYPOMAGNESEMIA 1, INTESTINAL; HOMG1 |
| 602025 |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9; BMIQ9 |
| 602032 |
ECTODERMAL DYSPLASIA, 'PURE' HAIR-NAIL TYPE |
| 602066 |
CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS; ICCA |
| 602068 |
LEISHMANIASIS, TEGUMENTARY, SUSCEPTIBILITY TO |
| 602071 |
BROAD TERMINAL PHALANGES, FAMILIAL |
| 602078 |
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2; CFEOM2 |
| 602079 |
TRIMETHYLAMINURIA; TMAU |
| 602080 |
PAGET DISEASE OF BONE; PDB |
| 602081 |
SPEECH-LANGUAGE DISORDER 1; SPCH1 |
| 602082 |
CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE II; CDB2 |
| 602083 |
USHER SYNDROME, TYPE IF; USH1F |
| 602085 |
POLYDACTYLY, POSTAXIAL, TYPE A2 |
| 602086 |
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 3; ARVD3 |
| 602087 |
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 4; ARVD4 |
| 602088 |
NEPHRONOPHTHISIS 2; NPHP2 |
| 602089 |
HEMANGIOMA, CAPILLARY INFANTILE |
| 602092 |
DEAFNESS, AUTOSOMAL RECESSIVE 18; DFNB18 |
| 602093 |
CONE DYSTROPHY 3; COD3 |
| 602096 |
ALZHEIMER DISEASE 5 |
| 602097 |
USHER SYNDROME, TYPE IE; USH1E |
| 602099 |
AMYOTROPHIC LATERAL SCLEROSIS 5; ALS5 |
| 602107 |
NEUROPATHY, HEREDITARY THERMOSENSITIVE |
| 602111 |
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE |
| 602114 |
NEPHROPATHY, PROGRESSIVE TUBULOINTERSTITIAL, WITH CHOLESTATIC LIVER DISEASE |
| 602124 |
DYSTONIA 7, TORSION; DYT7 |
| 602134 |
TREMOR, HEREDITARY ESSENTIAL, 2; ETM2 |
| 602152 |
RHYNS SYNDROME |
| 602196 |
PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES |
| 602199 |
MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY |
| 602200 |
VENTRICULOMEGALY WITH DEFECTS OF THE RADIUS AND KIDNEY |
| 602247 |
XANTHOMATOSIS, SUSCEPTIBILITY TO |
| 602248 |
MALIGNANT ATROPHIC PAPULOSIS |
| 602249 |
PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES |
| 602271 |
SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL |
| 602347 |
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3; PFIC3 |
| 602398 |
DESMOSTEROLOSIS |
| 602418 |
WEYERS ULNAR RAY/OLIGODACTYLY SYNDROME |
| 602433 |
AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE; ALS4 |
| 602440 |
AMYOTROPHY, MONOMELIC |
| 602450 |
SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION |
| 602471 |
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES |
| 602473 |
ENCEPHALOPATHY, ETHYLMALONIC; EE |
| 602475 |
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE; OPLL |
| 602477 |
FEBRILE SEIZURES, FAMILIAL, 2; FEB2 |
| 602481 |
MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2 |
| 602482 |
AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3 |
| 602483 |
AURICULOCONDYLAR SYNDROME 1; ARCND1 |
| 602485 |
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3; HHF3 |
| 602501 |
MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME; MCAP |
| 602522 |
BARTTER SYNDROME, TYPE 4A |
| 602535 |
MARSHALL-SMITH SYNDROME; MRSHSS |
| 602554 |
TORSION DYSTONIA WITH ONSET IN INFANCY |
| 602557 |
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE |
| 602579 |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B |
| 602588 |
BRANCHIOOTIC SYNDROME 1; BOS1 |
| 602613 |
SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION, LETHAL |
| 602629 |
DYSTONIA 6, TORSION; DYT6 |
| 602668 |
MYOTONIC DYSTROPHY 2; DM2 |
| 602771 |
RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1 |
| 602849 |
MUENKE SYNDROME; MNKES |
| 602875 |
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM ST. HELENA DYSPLASIA, INCLUDED |
| 603034 |
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY; EAD |
| 603041 |
MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE); MTDPS1 |
| 603116 |
CDAGS SYNDROME |
| 603147 |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic; CDG1C |
| 603165 |
DERMATITIS, ATOPIC |
| 603218 |
HUNTINGTON DISEASE-LIKE 1; HDL1 |
| 603221 |
MYOPIA 3, AUTOSOMAL DOMINANT; MYP3 |
| 603233 |
PSEUDOHYPOPARATHYROIDISM, TYPE IB; PHP1B |
| 603284 |
CEREBRAL CAVERNOUS MALFORMATIONS 2; CCM2 |
| 603463 |
HYPOSPADIAS, HYPERTELORISM, UPPER LID COLOBOMA, AND MIXED-TYPE HEARING LOSS |
| 603511 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E; LGMD1E |
| 603513 |
CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1; CPSQ1 |
| 603516 |
SPINOCEREBELLAR ATAXIA 10; SCA10 |
| 603543 |
LIMB-MAMMARY SYNDROME; LMS |
| 603546 |
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 2; SEMDJL2 |
| 603554 |
OMENN SYNDROME |
| 603563 |
SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT; SPG8 |
| 603585 |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf; CDG2F |
| 603622 |
DEAFNESS, AUTOSOMAL DOMINANT 17; DFNA17 COCHLEOSACCULAR DEGENERATION, INCLUDED |
| 603641 |
NEUROENDOCRINE CARCINOMA OF SALIVARY GLANDS, SENSORINEURAL HEARING LOSS, AND ENAMEL HYPOPLASIA |
| 603671 |
ACROMELIC FRONTONASAL DYSOSTOSIS |
| 603830 |
LONG QT SYNDROME 3; LQT3 LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED |
| 603896 |
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM |
| 603909 |
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A |
| 604004 |
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1; MLC1 |
| 604129 |
EPIDERMOLYSIS BULLOSA PRURIGINOSA |
| 604168 |
CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY |
| 604185 |
FACIAL PARESIS, HEREDITARY CONGENITAL, 2; HCFP2 |
| 604187 |
SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; SPG10 |
| 604218 |
ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES; FENIB |
| 604229 |
PETERS ANOMALY |
| 604271 |
SHORT STATURE, IDIOPATHIC, AUTOSOMAL |
| 604273 |
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE |
| 604278 |
RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION |
| 604286 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E |
| 604290 |
ACERULOPLASMINEMIA HYPOCERULOPLASMINEMIA, INCLUDED |
| 604292 |
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; EEC3 |
| 604314 |
BLEPHAROPHIMOSIS WITH FACIAL AND GENITAL ANOMALIES AND MENTAL RETARDATION |
| 604320 |
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1; DSMA1 |
| 604326 |
SPINOCEREBELLAR ATAXIA 12; SCA12 |
| 604348 |
ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL |
| 604352 |
FEBRILE SEIZURES, FAMILIAL, 4; FEB4 |
| 604360 |
SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11 |
| 604367 |
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; FPLD3 |
| 604369 |
SIALURIA, FINNISH TYPE |
| 604370 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1 BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1, INCLUDED |
| 604377 |
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY |
| 604381 |
PATENT DUCTUS ARTERIOSUS AND BICUSPID AORTIC VALVE WITH HAND ANOMALIES |
| 604387 |
NEPHRONOPHTHISIS 3; NPHP3 |
| 604393 |
LEBER CONGENITAL AMAUROSIS 4; LCA4 RETINITIS PIGMENTOSA, JUVENILE, AIPL1-RELATED, INCLUDED |
| 604403 |
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2; GEFSP2 |
| 604416 |
PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE |
| 604432 |
SPINOCEREBELLAR ATAXIA 11; SCA11 |
| 604484 |
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE |
| 604498 |
AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL; CAMT |
| 604563 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2; CMT4B2 |
| 604571 |
BARE LYMPHOCYTE SYNDROME, TYPE I |
| 604717 |
DEAFNESS, AUTOSOMAL DOMINANT 20; DFNA20 |
| 604801 |
MUSCULAR DYSTROPHY, CONGENITAL, 1B; MDC1B |
| 604802 |
HUNTINGTON DISEASE-LIKE 3; HDL3 |
| 604804 |
MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE; MCPH3 |
| 604805 |
SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT; SPG12 |
| 604827 |
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 7; EIG7 MYOCLONIC EPILEPSY, JUVENILE, 2, INCLUDED; EJM2, INCLUDED |
| 604841 |
STICKLER SYNDROME, TYPE II; STL2 |
| 604864 |
OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA |
| 604922 |
CORTICAL DEFECTS, WORMIAN BONES, AND DENTINOGENESIS IMPERFECTA |
| 605013 |
MICROHYDRANENCEPHALY; MHAC |
| 605021 |
MYOCLONIC EPILEPSY, FAMILIAL INFANTILE; FIME |
| 605039 |
BOHRING-OPITZ SYNDROME; BOPS |
| 605041 |
BROOKE-SPIEGLER SYNDROME; BRSS |
| 605055 |
ALZHEIMER DISEASE, FAMILIAL EARLY-ONSET, WITH COEXISTING AMYLOID AND PRION PATHOLOGY |
| 605229 |
SPASTIC PARAPLEGIA 14, AUTOSOMAL RECESSIVE; SPG14 |
| 605249 |
SEBASTIAN SYNDROME; SBS |
| 605253 |
NEUROPATHY, CONGENITAL HYPOMYELINATING |
| 605258 |
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2; HIGM2 |
| 605259 |
SPINOCEREBELLAR ATAXIA 13; SCA13 |
| 605274 |
MESOMELIC DYSPLASIA, SAVARIRAYAN TYPE |
| 605280 |
SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT; SPG13 |
| 605285 |
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE |
| 605309 |
MACROCEPHALY/AUTISM SYNDROME |
| 605321 |
FRONTOOCULAR SYNDROME |
| 605355 |
NEMALINE MYOPATHY 5; NEM5 |
| 605361 |
SPINOCEREBELLAR ATAXIA 14; SCA14 |
| 605373 |
PARAGANGLIOMAS 3; PGL3 |
| 605388 |
CEREBRAL PALSY, ATAXIC, AUTOSOMAL RECESSIVE |
| 605407 |
SEGAWA SYNDROME, AUTOSOMAL RECESSIVE |
| 605419 |
SCHIZOPHRENIA 10; SCZD10 |
| 605432 |
RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA |
| 605472 |
USHER SYNDROME, TYPE IIC; USH2C USHER SYNDROME, TYPE IIC, GPR98/PDZD7, DIGENIC, INCLUDED |
| 605479 |
CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2; BRIC2 |
| 605543 |
PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4 |
| 605588 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1; CMT2B1 |
| 605589 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2; CMT2B2 |
| 605594 |
DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1 |
| 605627 |
CEREBROOCULONASAL SYNDROME |
| 605670 |
LATE-ONSET RETINAL DEGENERATION; LORD |
| 605685 |
CUTIS VERTICIS GYRATA, RETINITIS PIGMENTOSA, AND SENSORINEURAL DEAFNESS |
| 605714 |
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED |
| 605726 |
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2; DSMA2 |
| 605735 |
BLEEDING DISORDER, PLATELET-TYPE, 12; BDPLT12 |
| 605751 |
SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2 |
| 605779 |
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 7; NDNC7 |
| 605808 |
BIRDSHOT CHORIORETINOPATHY |
| 605809 |
MYASTHENIA, FAMILIAL INFANTILE, 1 |
| 605814 |
CITRULLINEMIA, TYPE II, NEONATAL-ONSET |
| 605820 |
NONAKA MYOPATHY; NM |
| 605827 |
BASALOID FOLLICULAR HAMARTOMA SYNDROME, GENERALIZED, AUTOSOMAL DOMINANT |
| 605850 |
DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY; DMGDHD |
| 605899 |
GLYCINE ENCEPHALOPATHY; GCE |
| 605909 |
PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6 |
| 606002 |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1; SCAR1 |
| 606053 |
AUTISM, SUSCEPTIBILITY TO, 5; AUTS5 |
| 606054 |
PROPIONIC ACIDEMIA |
| 606056 |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb; CDG2B |
| 606070 |
MYOPATHY, DISTAL, 2; MPD2 |
| 606071 |
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC; HMSN2C |
| 606072 |
RIPPLING MUSCLE DISEASE; RMD RIPPLING MUSCLE DISEASE 2, INCLUDED; RMD2, INCLUDED |
| 606155 |
FRYNS-AFTIMOS SYNDROME |
| 606156 |
SENER SYNDROME |
| 606159 |
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3; NBIA3 |
| 606170 |
GENITOPATELLAR SYNDROME; GTPTS |
| 606176 |
DIABETES MELLITUS, PERMANENT NEONATAL; PNDM |
| 606183 |
LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY |
| 606217 |
ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2; AVSD2 ATRIOVENTRICULAR SEPTAL DEFECT, PARTIAL, WITH HETEROTAXY SYNDROME, INCLUDED |
| 606232 |
CHROMOSOME 22q13.3 DELETION SYNDROME |
| 606242 |
MENTAL RETARDATION, MICROCEPHALY, GROWTH RETARDATION, JOINT CONTRACTURES, AND FACIAL DYSMORPHISM |
| 606324 |
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7 |
| 606353 |
PRIMARY LATERAL SCLEROSIS, JUVENILE; PLSJ |
| 606369 |
EPILEPTIC ENCEPHALOPATHY, LENNOX-GASTAUT TYPE |
| 606407 |
HYPOTONIA-CYSTINURIA SYNDROME |
| 606408 |
EHLERS-DANLOS-LIKE SYNDROME DUE TO TENASCIN-X DEFICIENCY |
| 606438 |
HUNTINGTON DISEASE-LIKE 2; HDL2 |
| 606482 |
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B; CMTDIB |
| 606483 |
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A; CMTDIA |
| 606519 |
PHACE ASSOCIATION |
| 606528 |
HOMOZYGOUS 11p15-p14 DELETION SYNDROME |
| 606552 |
EPISODIC ATAXIA, TYPE 4; EA4 |
| 606554 |
EPISODIC ATAXIA, TYPE 3; EA3 |
| 606595 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F; CMT2F |
| 606612 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5; MDDGB5 |
| 606658 |
SPINOCEREBELLAR ATAXIA 15; SCA15 SPINOCEREBELLAR ATAXIA 16, FORMERLY; SCA16, FORMERLY |
| 606664 |
GLYCINE N-METHYLTRANSFERASE DEFICIENCY |
| 606688 |
SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES |
| 606693 |
KUFOR-RAKEB SYNDROME; KRS |
| 606703 |
DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA; FDFM |
| 606711 |
SPECIFIC LANGUAGE IMPAIRMENT 1; SLI1 |
| 606712 |
SPECIFIC LANGUAGE IMPAIRMENT 2; SLI2 |
| 606719 |
MELANOMA-PANCREATIC CANCER SYNDROME |
| 606721 |
LIPODYSTROPHY WITH CONGENITAL CATARACTS AND NEURODEGENERATION |
| 606762 |
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6; HHF6 |
| 606764 |
GASTROINTESTINAL STROMAL TUMOR; GIST |
| 606768 |
MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET; DMAT |
| 606772 |
MENTAL RETARDATION, OBESITY, MANDIBULAR PROGNATHISM, AND EYE AND SKIN ANOMALIES |
| 606777 |
GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1 |
| 606785 |
CRIGLER-NAJJAR SYNDROME, TYPE II |
| 606798 |
BLEPHAROSPASM, BENIGN ESSENTIAL |
| 606812 |
FUMARASE DEFICIENCY |
| 606824 |
GLUCOSE/GALACTOSE MALABSORPTION; GGM |
| 606835 |
DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL; FDAB |
| 606840 |
PARASOMNIA, SLEEP BRUXISM TYPE; PSMNSB |
| 606842 |
CARDIONEUROMYOPATHY WITH HYALINE MASSES AND NEMALINE RODS |
| 606843 |
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3; HIGM3 |
| 606851 |
CREE MENTAL RETARDATION SYNDROME |
| 606854 |
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL |
| 606889 |
ALZHEIMER DISEASE 4 |
| 606895 |
SYMPHALANGISM, DISTAL, WITH MICRODONTIA, DENTAL PULP STONES, AND NARROWED ZYGOMATIC ARCH |
| 606937 |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5; SCAR5 |
| 606943 |
USHER SYNDROME, TYPE IG; USH1G |
| 606966 |
NEPHRONOPHTHISIS 4; NPHP4 |
| 606995 |
SENIOR-LOKEN SYNDROME 3; SLSN3 |
| 606996 |
SENIOR-LOKEN SYNDROME 4; SLSN4 |
| 607004 |
BRACHYDACTYLY, TYPE A1, B |
| 607014 |
HURLER SYNDROME |
| 607060 |
PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8 |
| 607078 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5; EDM5 |
| 607080 |
46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY |
| 607088 |
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 3; DSMA3 |
| 607091 |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId; CDG2D |
| 607095 |
ANAUXETIC DYSPLASIA |
| 607136 |
SPINOCEREBELLAR ATAXIA 17; SCA17 |
| 607152 |
SPASTIC PARAPLEGIA 19, AUTOSOMAL DOMINANT; SPG19 |
| 607155 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5 |
| 607174 |
MENINGIOMA, FAMILIAL |
| 607200 |
THYROID DYSHORMONOGENESIS 6; TDH6 |
| 607208 |
DRAVET SYNDROME |
| 607225 |
SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP |
| 607236 |
HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION |
| 607259 |
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG7 |
| 607271 |
CASPASE 8 DEFICIENCY |
| 607313 |
GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS; HGPPS OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL, AND SCOLIOSIS, INCLUDED |
| 607317 |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4; SCAR4 |
| 607323 |
DUANE-RADIAL RAY SYNDROME; DRRS |
| 607326 |
SMITH-MCCORT DYSPLASIA; SMC |
| 607330 |
LATHOSTEROLOSIS |
| 607341 |
FOCAL CORTICAL DYSPLASIA OF TAYLOR; FCDT |
| 607346 |
SPINOCEREBELLAR ATAXIA 19; SCA19 |
| 607364 |
BARTTER SYNDROME, TYPE 3 |
| 607371 |
DYSTONIA, JUVENILE-ONSET |
| 607373 |
AUTISM, SUSCEPTIBILITY TO, 8; AUTS8 |
| 607398 |
GLUCOCORTICOID DEFICIENCY 2; GCCD2 |
| 607417 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2; MRT2 |
| 607426 |
COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1 |
| 607432 |
LISSENCEPHALY 1; LIS1 |
| 607450 |
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; ARVD8 |
| 607454 |
SPINOCEREBELLAR ATAXIA 21; SCA21 |
| 607458 |
SPINOCEREBELLAR ATAXIA 18; SCA18 |
| 607459 |
SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO |
| 607475 |
BOTHNIA RETINAL DYSTROPHY |
| 607483 |
THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE); THMD2 |
| 607485 |
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED |
| 607488 |
DYSTONIA 15, MYOCLONIC; DYT15 |
| 607498 |
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 3 |
| 607499 |
BULIMIA NERVOSA, SUSCEPTIBILITY TO, 1; BULN1 |
| 607501 |
MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO, 4 |
| 607508 |
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 5 |
| 607516 |
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 6 |
| 607541 |
CORNEAL DYSTROPHY, AVELLINO TYPE; CDA |
| 607552 |
MINICORE MYOPATHY, ANTENATAL ONSET, WITH ARTHROGRYPOSIS |
| 607554 |
ATRIAL FIBRILLATION, FAMILIAL, 3; ATFB3 |
| 607565 |
SPASTIC PARAPLEGIA, ATAXIA, AND MENTAL RETARDATION |
| 607569 |
MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT |
| 607578 |
BREATH-HOLDING SPELLS |
| 607584 |
SPASTIC PARAPLEGIA 24, AUTOSOMAL RECESSIVE; SPG24 |
| 607594 |
IMMUNODEFICIENCY, COMMON VARIABLE, 1; CVID1 |
| 607595 |
BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE |
| 607596 |
PONTOCEREBELLAR HYPOPLASIA, TYPE 1A; PCH1A |
| 607597 |
MICROPHTHALMIA WITH CYST, BILATERAL FACIAL CLEFTS, AND LIMB ANOMALIES |
| 607598 |
LETHAL CONGENITAL CONTRACTURE SYNDROME 2; LCCS2 |
| 607602 |
ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS |
| 607616 |
NIEMANN-PICK DISEASE, TYPE B NIEMANN-PICK DISEASE, TYPE E, INCLUDED |
| 607624 |
GRISCELLI SYNDROME, TYPE 2; GS2 |
| 607625 |
NIEMANN-PICK DISEASE, TYPE C2 |
| 607626 |
ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS |
| 607628 |
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11; EIG11 EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8, INCLUDED; EJM8, INCLUDED |
| 607631 |
EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1; EJA1 |
| 607634 |
OSTEOPETROSIS, AUTOSOMAL DOMINANT 1; OPTA1 |
| 607636 |
VAN BUCHEM DISEASE, TYPE 2 |
| 607641 |
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB; HMN7B |
| 607655 |
SKIN FRAGILITY-WOOLLY HAIR SYNDROME; SFWHS |
| 607665 |
TUBULOINTERSTITIAL NEPHRITIS WITH UVEITIS; TINU ACUTE TUBULOINTERSTITIAL NEPHRITIS, INCLUDED; ATIN, INCLUDED |
| 607671 |
DYSTONIA 13, TORSION; DYT13 |
| 607674 |
CATARACT, CONGENITAL, WITH MENTAL IMPAIRMENT AND DENTATE GYRUS ATROPHY |
| 607677 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I; CMT2I |
| 607678 |
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D |
| 607681 |
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; ECA2 |
| 607682 |
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; EIG9 EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6, INCLUDED; EJM6, INCLUDED |
| 607684 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E; CMT2E |
| 607685 |
HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC; HES |
| 607706 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE |
| 607731 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2H; CMT2H |
| 607734 |
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F; CMT1F |
| 607736 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J; CMT2J |
| 607745 |
SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3 |
| 607765 |
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1; CBAS1 |
| 607778 |
ACROCAPITOFEMORAL DYSPLASIA; ACFD |
| 607791 |
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D; CMTDID |
| 607801 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C; LGMD1C |
| 607812 |
CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD |
| 607822 |
ALZHEIMER DISEASE 3 |
| 607823 |
HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME; HLTS |
| 607829 |
MITRAL VALVE PROLAPSE, MYXOMATOUS 2; MMVP2 |
| 607831 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; CMT2K |
| 607850 |
OSTEOARTHRITIS SUSCEPTIBILITY 3; OS3 |
| 607855 |
MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A |
| 607859 |
ANGIOMA, TUFTED |
| 607872 |
CHROMOSOME 1p36 DELETION SYNDROME |
| 607876 |
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2 |
| 607932 |
MICROPHTHALMIA, SYNDROMIC 6; MCOPS6 |
| 607944 |
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI |
| 608013 |
GAUCHER DISEASE, PERINATAL LETHAL |
| 608022 |
DIAPHANOSPONDYLODYSOSTOSIS |
| 608027 |
PONTOCEREBELLAR HYPOPLASIA, TYPE 3; PCH3 |
| 608028 |
THAI SYMPHALANGISM SYNDROME |
| 608029 |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 6; SCAR6 |
| 608033 |
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO; IIAE3 |
| 608049 |
AUTISM, SUSCEPTIBILITY TO, 3; AUTS3 |
| 608051 |
MACULAR DYSTROPHY, RETINAL, 2; MCDR2 |
| 608088 |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, WITH COUGH AND GASTROESOPHAGEAL REFLUX |
| 608091 |
JOUBERT SYNDROME 2; JBTS2 |
| 608093 |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J |
| 608096 |
EPILEPSY, FAMILIAL TEMPORAL LOBE, 2; ETL2 |
| 608099 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D; LGMD2D |
| 608105 |
EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND WRITER'S CRAMP; EPRPDC |
| 608106 |
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5; HIGM5 |
| 608115 |
OVARIAN HYPERSTIMULATION SYNDROME |
| 608118 |
ZINC IN BREAST MILK, REDUCED ZINC DEFICIENCY, NEONATAL, DUE TO LOW BREAST MILK ZINC, INCLUDED |
| 608154 |
LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT STATURE, AND SLENDER BONES |
| 608156 |
NABLUS MASK-LIKE FACIAL SYNDROME; NMLFS |
| 608180 |
SYNPOLYDACTYLY 2; SPD2 |
| 608184 |
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 4; HIGM4 |
| 608189 |
TROPICAL CALCIFIC PANCREATITIS |
| 608217 |
SEIZURES, BENIGN FAMILIAL NEONATAL, 3; BFNS3 |
| 608219 |
DEAFNESS, AUTOSOMAL RECESSIVE 38; DFNB38 |
| 608227 |
CRANIOFACIAL ABNORMALITIES, CATARACTS, CONGENITAL HEART DISEASE, SACRAL NEURAL TUBE DEFECTS, AND GROWTH AND DEVELOPMENTAL RETARDATION |
| 608233 |
HERMANSKY-PUDLAK SYNDROME 2; HPS2 |
| 608236 |
SLOWED NERVE CONDUCTION VELOCITY, AUTOSOMAL DOMINANT |
| 608244 |
OTOSCLEROSIS 3; OTSC3 |
| 608257 |
MANDIBULOFACIAL DYSOSTOSIS WITH PTOSIS, AUTOSOMAL DOMINANT |
| 608264 |
DEAFNESS, AUTOSOMAL RECESSIVE 40; DFNB40 |
| 608265 |
DEAFNESS, AUTOSOMAL RECESSIVE 39; DFNB39 |
| 608278 |
GROWTH FAILURE, MICROCEPHALY, MENTAL RETARDATION, CATARACTS, LARGE JOINT CONTRACTURES, OSTEOPOROSIS, CORTICAL DYSPLASIA, AND CEREBELLAR ATROPHY |
| 608279 |
CRANIOSYNOSTOSIS WITH OCULAR ABNORMALITIES AND HALLUCAL DEFECTS |
| 608320 |
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1; ADCAD1 |
| 608323 |
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C; CMTDIC |
| 608328 |
WEILL-MARCHESANI SYNDROME 2; WMS2 |
| 608340 |
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A; CMTRIA |
| 608345 |
NYSTAGMUS 3, CONGENITAL, AUTOSOMAL DOMINANT; NYS3 |
| 608358 |
MYOPATHY, MYOSIN STORAGE |
| 608361 |
SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE |
| 608363 |
CHROMOSOME 22q11.2 DUPLICATION SYNDROME |
| 608367 |
MYOPIA 17, AUTOSOMAL DOMINANT; MYP17 |
| 608372 |
DEAFNESS, AUTOSOMAL DOMINANT 49; DFNA49 |
| 608390 |
MYOTONIA, POTASSIUM-AGGRAVATED |
| 608393 |
MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE; MCPH6 |
| 608404 |
PLATELET GLYCOPROTEIN IV DEFICIENCY |
| 608406 |
VATER-LIKE DEFECTS WITH PULMONARY HYPERTENSION, LARYNGEAL WEBS, AND GROWTH DEFICIENCY |
| 608423 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F; LGMD1F |
| 608432 |
CRANIOSYNOSTOSIS, CALCIFICATION OF BASAL GANGLIA, AND FACIAL DYSMORPHISM |
| 608443 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3; MRT3 |
| 608454 |
KNOBLOCH SYNDROME 2; KNO2 |
| 608471 |
CORNEAL DYSTROPHY, LATTICE TYPE IIIA; CDL3A |
| 608474 |
MYOPIA 5, AUTOSOMAL DOMINANT; MYP5 |
| 608540 |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K |
| 608545 |
LARSEN-LIKE SYNDROME |
| 608567 |
SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE; SSS1 |
| 608571 |
ULNAR/FIBULAR RAY DEFECT AND BRACHYDACTYLY |
| 608572 |
BURN-MCKEOWN SYNDROME |
| 608583 |
ATRIAL FIBRILLATION, FAMILIAL, 1; ATFB1 |
| 608591 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G; CMT2G |
| 608594 |
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 |
| 608600 |
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 1; FPLD1 |
| 608611 |
RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY |
| 608612 |
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB |
| 608622 |
HYPERTENSION, DIASTOLIC, RESISTANCE TO |
| 608624 |
MIDFACE HYPOPLASIA, OBESITY, DEVELOPMENTAL DELAY, AND NEONATAL HYPOTONIA |
| 608629 |
JOUBERT SYNDROME 3; JBTS3 |
| 608631 |
ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2 |
| 608634 |
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB; HMN2B |
| 608636 |
CHROMOSOME 15q11-q13 DUPLICATION SYNDROME |
| 608638 |
ASPERGER SYNDROME, SUSCEPTIBILITY TO, 1 |
| 608641 |
DEAFNESS, AUTOSOMAL DOMINANT 28; DFNA28 |
| 608643 |
AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY |
| 608654 |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V; HSAN5 |
| 608673 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L; CMT2L |
| 608687 |
SPINOCEREBELLAR ATAXIA 20; SCA20 |
| 608688 |
AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY |
| 608703 |
SPINOCEREBELLAR ATAXIA 25; SCA25 |
| 608709 |
LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO; APLD |
| 608716 |
MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5 |
| 608720 |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, ADULT-ONSET, WITH ANOSMIA |
| 608728 |
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED |
| 608747 |
INSULIN-LIKE GROWTH FACTOR I DEFICIENCY |
| 608763 |
EHLERS-DANLOS SYNDROME, BEASLEY-COHEN TYPE |
| 608768 |
SPINOCEREBELLAR ATAXIA 8; SCA8 |
| 608782 |
PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY; PDHPD |
| 608799 |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E |
| 608800 |
SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME; SIDDT |
| 608804 |
LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2 |
| 608807 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J; LGMD2J |
| 608809 |
LEUKOENCEPHALOPATHY, ARTHRITIS, COLITIS, AND HYPOGAMMAGLOBULINEMA; LACH |
| 608810 |
MYOPATHY, MYOFIBRILLAR, 2, MFM2 |
| 608836 |
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL |
| 608840 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6; MDDGB6 |
| 608864 |
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6 |
| 608890 |
WAARDENBURG SYNDROME, TYPE 2D; WS2D |
| 608902 |
DRUG METABOLISM, POOR, CYP2D6-RELATED DRUG METABOLISM, ULTRARAPID, CYP2D6-RELATED, INCLUDED |
| 608930 |
MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL |
| 608931 |
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY |
| 608940 |
SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY |
| 608957 |
CD8 DEFICIENCY, FAMILIAL |
| 608984 |
ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1 |
| 608995 |
DYSLEXIA, SUSCEPTIBILITY TO, 8; DYX8 |
| 609008 |
MARFANOID HABITUS WITH SITUS INVERSUS |
| 609015 |
TRIFUNCTIONAL PROTEIN DEFICIENCY |
| 609021 |
PERIPHERAL CONE DYSTROPHY |
| 609029 |
EMANUEL SYNDROME |
| 609033 |
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA; AXPC1 |
| 609037 |
MENTAL RETARDATION WITH OPTIC ATROPHY, FACIAL DYSMORPHISM, MICROCEPHALY, AND SHORT STATURE |
| 609039 |
NARCOLEPSY 3; NRCLP3 |
| 609040 |
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; ARVD9 |
| 609041 |
SPASTIC PARAPLEGIA 27, AUTOSOMAL RECESSIVE; SPG27 |
| 609048 |
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3; CMM3 |
| 609049 |
PIERSON SYNDROME |
| 609052 |
SPONDYLOMETAPHYSEAL DYSPLASIA, TYPE A4 |
| 609055 |
CEROID LIPOFUSCINOSIS, NEURONAL, 9; CLN9 |
| 609056 |
AMISH INFANTILE EPILEPSY SYNDROME |
| 609060 |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1; COXPD1 |
| 609115 |
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G; LGMD1G |
| 609129 |
AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1; AUNA1 |
| 609136 |
PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE; PCWH |
| 609152 |
HYPERTHYROIDISM, NONAUTOIMMUNE |
| 609161 |
STRIATAL DEGENERATION, AUTOSOMAL DOMINANT; ADSD |
| 609162 |
CZECH DYSPLASIA |
| 609166 |
BRANCHIOGENIC-DEAFNESS SYNDROME |
| 609192 |
LOEYS-DIETZ SYNDROME, TYPE 1A; LDS1A |
| 609195 |
SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE; SPG26 |
| 609197 |
GLUCOCORTICOID DEFICIENCY 3; GCCD3 |
| 609200 |
MYOPATHY, MYOFIBRILLAR, 3; MFM3 |
| 609220 |
BRUCK SYNDROME 2; BRKS2 |
| 609222 |
DANDY-WALKER MALFORMATION WITH OCCIPITAL CEPHALOCELE, AUTOSOMAL DOMINANT; ADDWOC |
| 609223 |
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE, LEROY-SPRANGER TYPE |
| 609227 |
GRISCELLI SYNDROME, TYPE 3; GS3 |
| 609241 |
SCHINDLER DISEASE, TYPE I |
| 609242 |
KANZAKI DISEASE |
| 609253 |
FEBRILE SEIZURES, FAMILIAL, 6; FEB6 |
| 609254 |
SENIOR-LOKEN SYNDROME 5; SLSN5 |
| 609255 |
FEBRILE SEIZURES, FAMILIAL, 5; FEB5 |
| 609260 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2; CMT2A2 |
| 609270 |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7; SCAR7 |
| 609283 |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 2; PEOA2 |
| 609284 |
NEMALINE MYOPATHY 1; NEM1 CAP MYOPATHY, TPM3-RELATED, INCLUDED |
| 609285 |
NEMALINE MYOPATHY 4; NEM4 CAP MYOPATHY, TPM2-RELATED, INCLUDED |
| 609286 |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3; PEOA3 |
| 609304 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3; EIEE3 |
| 609306 |
SPINOCEREBELLAR ATAXIA 26; SCA26 |
| 609307 |
SPINOCEREBELLAR ATAXIA 27; SCA27 |
| 609308 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MDDGC1 |
| 609311 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H |
| 609322 |
RHABDOID TUMOR PREDISPOSITION SYNDROME 1; RTPS1 |
| 609324 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH SEVERE PROXIMAL FEMORAL DYSPLASIA |
| 609325 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MINIEPIPHYSES |
| 609340 |
SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE; SPG28 |
| 609384 |
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3C; CFEOM3C |
| 609425 |
CHROMOSOME 3q29 DELETION SYNDROME |
| 609428 |
TUKEL SYNDROME |
| 609432 |
SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION; MSSD |
| 609438 |
MENTAL RETARDATION, KERATOCONUS, FEBRILE SEIZURES, AND SINOATRIAL BLOCK |
| 609439 |
DEAFNESS, AUTOSOMAL RECESSIVE 48; DFNB48 |
| 609441 |
CHONDRODYSPLASIA, ACROMESOMELIC, WITH GENITAL ANOMALIES |
| 609446 |
GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA; GEPD |
| 609452 |
MYOPATHY, MYOFIBRILLAR, 4; MFM4 |
| 609454 |
SUPRANUCLEAR PALSY, PROGRESSIVE, 2; PSNP2 |
| 609456 |
MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE |
| 609460 |
GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME |
| 609500 |
MYOPATHY, AUTOPHAGIC VACUOLAR, INFANTILE-ONSET |
| 609524 |
MYOPATHY, MYOFIBRILLAR, 5; MFM5 |
| 609528 |
CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME |
| 609533 |
DEAFNESS, AUTOSOMAL RECESSIVE 23; DFNB23 |
| 609541 |
SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY; SPOAN |
| 609560 |
MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE); MTDPS2 |
| 609566 |
PARIETAL FORAMINA 3; PFM3 |
| 609583 |
JOUBERT SYNDROME 4; JBTS4 |
| 609597 |
PARIETAL FORAMINA 2; PFM2 |
| 609616 |
SPONDYLOMEGAEPIPHYSEAL DYSPLASIA WITH UPPER LIMB MESOMELIA, PUNCTATE CALCIFICATIONS, AND DEAFNESS |
| 609625 |
CHROMOSOME 10q26 DELETION SYNDROME |
| 609634 |
MIGRAINE, FAMILIAL HEMIPLEGIC, 3; FHM3 |
| 609636 |
ALZHEIMER DISEASE 10 |
| 609637 |
HOLOPROSENCEPHALY 5; HPE5 |
| 609638 |
EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC |
| 609646 |
DEAFNESS, AUTOSOMAL RECESSIVE 42; DFNB42 |
| 609647 |
DEAFNESS, AUTOSOMAL RECESSIVE 46; DFNB46 |
| 609649 |
TRICHILEMMAL CYST 1; TRICY1 |
| 609654 |
SHORT STATURE AND FACIOAURICULOTHORACIC MALFORMATIONS |
| 609655 |
TALO-PATELLO-SCAPHOID OSTEOLYSIS, SYNOVITIS, AND SHORT FOURTH METACARPALS |
| 609727 |
SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT; SPG29 |
| 609796 |
PEELING SKIN SYNDROME, ACRAL TYPE |
| 609800 |
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 4; GEFSP4 |
| 609808 |
HAMARTOMA, PRECALCANEAL CONGENITAL FIBROLIPOMATOUS |
| 609814 |
COMPLEMENT FACTOR H DEFICIENCY; CFHD |
| 609820 |
ERYTHROCYTOSIS, FAMILIAL, 3; ECYT3 |
| 609821 |
BLEEDING DISORDER, PLATELET-TYPE, 8; BDPLT8 |
| 609823 |
DEAFNESS, AUTOSOMAL RECESSIVE 28; DFNB28 |
| 609924 |
AMINOACYLASE 1 DEFICIENCY |
| 609941 |
DEAFNESS, AUTOSOMAL RECESSIVE 51; DFNB51 |
| 609943 |
HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES |
| 609944 |
ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVE FACIAL FEATURES |
| 609945 |
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA |
| 609968 |
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5; HHF5 |
| 609975 |
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4; HHF4 |
| 610003 |
CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT |
| 610006 |
2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY |
| 610021 |
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7 |
| 610031 |
POLYMICROGYRIA, ASYMMETRIC |
| 610090 |
PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY |
| 610099 |
MYOPATHY, DISTAL, 3; MPD3 |
| 610100 |
GIANT AXONAL NEUROPATHY, AUTOSOMAL DOMINANT |
| 610127 |
CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10 |
| 610131 |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 4; PEOA4 |
| 610140 |
HEART-HAND SYNDROME, SLOVENIAN TYPE |
| 610143 |
DEAFNESS, AUTOSOMAL RECESSIVE 62; DFNB62 |
| 610153 |
DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49 |
| 610154 |
DEAFNESS, AUTOSOMAL RECESSIVE 44; DFNB44 |
| 610156 |
MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS |
| 610168 |
LOEYS-DIETZ SYNDROME, TYPE 1B; LDS1B |
| 610185 |
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2 |
| 610188 |
JOUBERT SYNDROME 5; JBTS5 |
| 610189 |
SENIOR-LOKEN SYNDROME 6; SLSN6 |
| 610193 |
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; ARVD10 |
| 610198 |
3-@METHYLGLUTACONIC ACIDURIA, TYPE V; MGCA5 |
| 610202 |
CATARACT, PULVERULENT, JUVENILE-ONSET CATARACT, CONGENITAL, CERULEAN TYPE, 4, INCLUDED; CCA4, INCLUDED |
| 610204 |
PONTOCEREBELLAR HYPOPLASIA, TYPE 5; PCH5 |
| 610208 |
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 10 |
| 610209 |
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 11 |
| 610217 |
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; NBIA2B |
| 610244 |
SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT; SPG33 |
| 610246 |
SPINOCEREBELLAR ATAXIA 28; SCA28 |
| 610248 |
DEAFNESS, AUTOSOMAL RECESSIVE 65; DFNB65 |
| 610250 |
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT; SPG31 |
| 610253 |
KLEEFSTRA SYNDROME |
| 610256 |
APHAKIA, CONGENITAL PRIMARY |
| 610279 |
PACHYGYRIA, FRONTOTEMPORAL |
| 610282 |
RETINITIS PIGMENTOSA 35; RP35 |
| 610283 |
CONE-ROD DYSTROPHY 10; CORD10 |
| 610293 |
GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY |
| 610313 |
COLD-INDUCED SWEATING SYNDROME 2; CISS2 |
| 610319 |
RHIZOMELIC DYSPLASIA, SCOLIOSIS, AND RETINITIS PIGMENTOSA |
| 610338 |
RIGHT PULMONARY ARTERY, ANOMALOUS ORIGIN OF, FAMILIAL |
| 610353 |
EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4 |
| 610357 |
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE; SPG30 |
| 610370 |
DIARRHEA 4, MALABSORPTIVE, CONGENITAL; DIAR4 |
| 610377 |
MEVALONIC ACIDURIA MEVALONATE KINASE DEFICIENCY, INCLUDED |
| 610419 |
DEAFNESS, AUTOSOMAL RECESSIVE 68; DFNB68 |
| 610420 |
PREAURICULAR TAG, ISOLATED, AUTOSOMAL DOMINANT, 1 |
| 610422 |
ALOPECIA-MENTAL RETARDATION SYNDROME 2; APMR2 |
| 610442 |
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE |
| 610443 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17; MRD17 |
| 610445 |
NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1; CSNBAD1 |
| 610448 |
CHILBLAIN LUPUS 1; CHBL1 |
| 610455 |
TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL; NFTC |
| 610474 |
CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME |
| 610475 |
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2 |
| 610476 |
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; ARVD11 |
| 610489 |
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1 |
| 610498 |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2; COXPD2 |
| 610505 |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3; COXPD3 |
| 610532 |
LEUKODYSTROPHY, HYPOMYELINATING, 5; HLD5 |
| 610535 |
GLAUCOMA 1, OPEN ANGLE, M; GLC1M |
| 610536 |
MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY; MFDM |
| 610542 |
MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 1; CMSTA1 |
| 610543 |
CHROMOSOME 16p13.3 DELETION SYNDROME, PROXIMAL |
| 610600 |
CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY |
| 610634 |
CATARACT, POSTERIOR POLAR, 5; CTPP5 |
| 610651 |
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB |
| 610655 |
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 4; HHT4 |
| 610680 |
HOLOPROSENCEPHALY, RECURRENT INFECTIONS, AND MONOCYTOSIS |
| 610682 |
OSTEOGENESIS IMPERFECTA, TYPE VII |
| 610688 |
JOUBERT SYNDROME 6; JBTS6 |
| 610706 |
DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA |
| 610708 |
OPTIC ATROPHY 5; OPA5 |
| 610725 |
NEPHROTIC SYNDROME, TYPE 3; NPHS3 |
| 610738 |
NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3 |
| 610755 |
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV; MEN4 |
| 610765 |
ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE |
| 610768 |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M |
| 610797 |
EPIPHYSEAL DYSPLASIA, BAUMANN TYPE |
| 610798 |
IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN |
| 610828 |
HOLOPROSENCEPHALY 7; HPE7 |
| 610829 |
HOLOPROSENCEPHALY 9; HPE9 |
| 610840 |
MITRAL VALVE PROLAPSE, MYXOMATOUS 3; MMVP3 |
| 610852 |
CILIARY DYSKINESIA, PRIMARY, 6; CILD6 |
| 610883 |
POTOCKI-LUPSKI SYNDROME; PTLS |
| 610910 |
PULMONARY ALVEOLAR PROTEINOSIS, ACQUIRED |
| 610913 |
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2; SMDP2 |
| 610915 |
OSTEOGENESIS IMPERFECTA, TYPE VIII |
| 610921 |
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3; SMDP3 |
| 610951 |
CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7 |
| 610954 |
PITT-HOPKINS SYNDROME; PTHS |
| 610967 |
OSTEOGENESIS IMPERFECTA, TYPE V |
| 610968 |
OSTEOGENESIS IMPERFECTA, TYPE XI; OI11 |
| 610978 |
CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS |
| 610984 |
COMPLEMENT FACTOR I DEFICIENCY; CFID |
| 610992 |
PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY |
| 611022 |
DEAFNESS, AUTOSOMAL RECESSIVE 24; DFNB24 |
| 611031 |
EPISODIC KINESIGENIC DYSKINESIA 2; EKD2 |
| 611038 |
MICROPHTHALMIA, ISOLATED 3; MCOP3 |
| 611040 |
MICROPHTHALMIA, ISOLATED 5; MCOP5 |
| 611067 |
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4; DSMA4 |
| 611102 |
DEAFNESS, SENSORINEURAL, AND MALE INFERTILITY |
| 611126 |
ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF |
| 611131 |
RETINITIS PIGMENTOSA 37; RP37 |
| 611147 |
PAROXYSMAL NONKINESIGENIC DYSKINESIA 2; PNKD2 |
| 611225 |
SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE; SPG18 |
| 611252 |
SPASTIC PARAPLEGIA 32, AUTOSOMAL RECESSIVE; SPG32 |
| 611263 |
ASPHYXIATING THORACIC DYSTROPHY 2; ATD2 |
| 611284 |
DYSTONIA, FOCAL, TASK-SPECIFIC; FTSD MUSICIAN'S DYSTONIA, INCLUDED |
| 611302 |
SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE; SPAX2 |
| 611307 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L; LGMD2L |
| 611364 |
MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 4; EJM4 |
| 611376 |
MUNGAN SYNDROME; MGS |
| 611377 |
BRACHYDACTYLY, TYPE B2; BDB2 |
| 611390 |
SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE; SPAX3 |
| 611426 |
TENTED EYEBROWS |
| 611431 |
LEGIUS SYNDROME |
| 611489 |
CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY |
| 611528 |
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12 |
| 611561 |
MECKEL SYNDROME, TYPE 5; MKS5 |
| 611571 |
OTOSCLEROSIS 4; OTSC4 |
| 611572 |
OTOSCLEROSIS 7; OTSC7 |
| 611584 |
WAARDENBURG SYNDROME, TYPE 2E; WS2E |
| 611588 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4; MDDGC4 |
| 611597 |
CATARACT, AUTOSOMAL DOMINANT, MULTIPLE TYPES 1 |
| 611603 |
LISSENCEPHALY 3; LIS3 |
| 611615 |
CARDIOMYOPATHY, DILATED, 1X; CMD1X |
| 611630 |
EPILEPSY, FAMILIAL TEMPORAL LOBE, 3; ETL3 |
| 611631 |
EPILEPSY, FAMILIAL TEMPORAL LOBE, 4; ETL4 |
| 611634 |
FEBRILE SEIZURES, FAMILIAL, 9; FEB9 |
| 611637 |
PRIMARY LATERAL SCLEROSIS, ADULT, 1; PLSA1 |
| 611638 |
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5; MCOPCB5 |
| 611694 |
DYSTONIA WITH CEREBELLAR ATROPHY; DYTCA |
| 611702 |
SPONDYLOMETAPHYSEAL DYSPLASIA, EAST AFRICAN TYPE |
| 611705 |
MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY |
| 611717 |
SPONDYLOEPIPHYSEAL DYSPLASIA-BRACHYDACTYLY AND DISTINCTIVE SPEECH |
| 611719 |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5; COXPD5 |
| 611721 |
COMBINED SAPOSIN DEFICIENCY |
| 611722 |
KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY |
| 611726 |
EPILEPSY, PROGRESSIVE MYOCLONIC 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3 |
| 611808 |
TREMOR, HEREDITARY ESSENTIAL, AND IDIOPATHIC NORMAL PRESSURE HYDROCEPHALUS; ETINPH |
| 611812 |
46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS; SERKAL |
| 611816 |
TEMPLE-BARAITSER SYNDROME |
| 611867 |
CHROMOSOME 22q11.2 DELETION SYNDROME, DISTAL |
| 611881 |
GLYCOGEN STORAGE DISEASE XII; GSD12 |
| 611884 |
CILIARY DYSKINESIA, PRIMARY, 7; CILD7 |
| 611907 |
EPISODIC ATAXIA, TYPE 7; EA7 |
| 611926 |
IMMUNODEFICIENCY, OVARIAN DYSGENESIS, AND PULMONARY FIBROSIS |
| 611929 |
CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE III |
| 611936 |
CHROMOSOME 3q29 DUPLICATION SYNDROME |
| 611944 |
LYMPHEDEMA, HEREDITARY, IB |
| 611945 |
SPASTIC PARAPLEGIA 37, AUTOSOMAL DOMINANT; SPG37 |
| 611961 |
STEVENSON-CAREY SYNDROME |
| 611962 |
HUNTER-MACDONALD SYNDROME |
| 612001 |
CHROMOSOME 15q13.3 DELETION SYNDROME |
| 612067 |
DYSTONIA 16; DYT16 |
| 612073 |
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH METHYLMALONIC ACIDURIA); MTDPS5 |
| 612079 |
ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME |
| 612089 |
HYPOPHOSPHATEMIC RICKETS AND HYPERPARATHYROIDISM |
| 612095 |
RETINITIS PIGMENTOSA 41; RP41 |
| 612096 |
OTOSCLEROSIS 8; OTSC8 |
| 612097 |
DEAFNESS, UNILATERAL, WITH DELAYED ENDOLYMPHATIC HYDROPS |
| 612098 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11; CMH11 |
| 612119 |
TREHALASE DEFICIENCY |
| 612124 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12; CMH12 |
| 612132 |
ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT |
| 612138 |
EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA |
| 612164 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4 |
| 612198 |
DIASTASIS RECTI AND WEAKNESS OF THE LINEA ALBA |
| 612199 |
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS; CRMCC |
| 612201 |
ATRIAL FIBRILLATION, FAMILIAL, 6; ATFB6 |
| 612227 |
DIABETES MELLITUS, KETOSIS-PRONE; KPD |
| 612229 |
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3; CRCS3 |
| 612233 |
LEUKODYSTROPHY, HYPOMYELINATING, 4; HLD4 |
| 612285 |
JOUBERT SYNDROME 9; JBTS9 JOUBERT SYNDROME 9/15, DIGENIC, INCLUDED |
| 612286 |
NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1; NPHLOP1 |
| 612287 |
NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2; NPHLOP2 |
| 612290 |
MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE |
| 612304 |
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE; THPH4 |
| 612319 |
SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE; SPG35 |
| 612335 |
SPASTIC PARAPLEGIA 38, AUTOSOMAL DOMINANT; SPG38 |
| 612336 |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT; THPH5 |
| 612350 |
SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE |
| 612356 |
HEPARIN COFACTOR II DEFICIENCY |
| 612379 |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq; CDG1Q |
| 612394 |
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS |
| 612406 |
DYSTONIA 17, TORSION, AUTOSOMAL RECESSIVE; DYT17 |
| 612437 |
EPILEPSY, PROGRESSIVE MYOCLONIC 1B; EPM1B |
| 612438 |
LEUKODYSTROPHY, HYPOMYELINATING, 6; HLD6 |
| 612447 |
SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION |
| 612462 |
PSEUDOHYPOPARATHYROIDISM, TYPE IC; PHP1C |
| 612463 |
PSEUDOPSEUDOHYPOPARATHYROIDISM; PPHP |
| 612475 |
CHROMOSOME 1q21.1 DUPLICATION SYNDROME |
| 612513 |
CHROMOSOME 2p16.1-p15 DELETION SYNDROME |
| 612530 |
CHROMOSOME 1q41-q42 DELETION SYNDROME |
| 612539 |
SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT; SPG42 |
| 612540 |
MYOPATHY, CONGENITAL, COMPTON-NORTH |
| 612541 |
NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4 DURSUN SYNDROME, INCLUDED |
| 612555 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BROVCA2 BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2, INCLUDED |
| 612582 |
CHROMOSOME 6pter-p24 DELETION SYNDROME |
| 612626 |
CHROMOSOME 15q26-qter DELETION SYNDROME |
| 612651 |
ENDOCRINE-CEREBROOSTEODYSPLASIA; ECO |
| 612674 |
POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT; PHARC |
| 612713 |
KAHRIZI SYNDROME; KHRZ |
| 612714 |
EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS |
| 612716 |
DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY |
| 612717 |
MYOPIA 15, AUTOSOMAL DOMINANT; MYP15 |
| 612726 |
HARDIKAR SYNDROME |
| 612731 |
FACIOCARDIOMELIC SYNDROME |
| 612736 |
GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY |
| 612740 |
PORPHYRIA, ACUTE HEPATIC |
| 612776 |
HYPOGLOSSIA WITH SITUS INVERSUS HYPOGLOSSIA, ISOLATED, INCLUDED |
| 612780 |
SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE; SESAMES |
| 612782 |
IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT 1 |
| 612783 |
IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT 2 |
| 612813 |
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE |
| 612840 |
LEUKOCYTE ADHESION DEFICIENCY, TYPE III; LAD3 |
| 612843 |
KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT; KFSD |
| 612847 |
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAKISTANI TYPE |
| 612913 |
OROFACIODIGITAL SYNDROME XI; OFD11 |
| 612917 |
GIACHETI SYNDROME |
| 612932 |
GLYCOGEN STORAGE DISEASE XIII; GSD13 |
| 612933 |
GLYCOGEN STORAGE DISEASE XI; GSD11 |
| 612934 |
GLYCOGEN STORAGE DISEASE XIV; GSD14 |
| 612936 |
SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50 |
| 612938 |
GROWTH RETARDATION, DEVELOPMENTAL DELAY, COARSE FACIES, AND EARLY DEATH; GDFD |
| 612940 |
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB; ARCL2B |
| 612946 |
HADZISELIMOVIC SYNDROME |
| 612947 |
MICROCEPHALY, GROWTH RETARDATION, CATARACT, HEARING LOSS, AND UNUSUAL APPEARANCE |
| 612948 |
STARGARDT MACULAR DEGENERATION, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, MENTAL RETARDATION, AND DYSMORPHIC FEATURES |
| 612949 |
HYPOMYELINATION, GLOBAL CEREBRAL |
| 612951 |
LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY |
| 612954 |
MYOPATHY, MYOFIBRILLAR 6, MFM6 |
| 612998 |
EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT; EDMD4 |
| 612999 |
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT; EDMD5 |
| 613005 |
SANTOS SYNDROME |
| 613011 |
LYMPHOPROLIFERATIVE SYNDROME, EBV-ASSOCIATED, AUTOSOMAL, 1 |
| 613021 |
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2; BESC2 |
| 613026 |
CHROMOSOME 19q13.11 DELETION SYNDROME |
| 613027 |
GLYCOGEN STORAGE DISEASE IXc; GSD9C |
| 613038 |
PITUITARY HORMONE DEFICIENCY, COMBINED, 1; CPHD1 |
| 613068 |
NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY |
| 613070 |
LIVER FAILURE, INFANTILE, TRANSIENT; LFIT |
| 613071 |
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3; BESC3 |
| 613090 |
BARTTER SYNDROME, TYPE 4B |
| 613093 |
CONE DYSTROPHY 4; COD4 ACHROMATOPSIA 5, INCLUDED; ACHM5, INCLUDED |
| 613094 |
MICROPHTHALMIA, ISOLATED 4; MCOP4 |
| 613096 |
SPASTIC PARAPLEGIA 36, AUTOSOMAL DOMINANT; SPG36 |
| 613097 |
TOOTH AGENESIS, SELECTIVE, 6; STHAG6 |
| 613105 |
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2; CACD2 |
| 613115 |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB; HSAN2B |
| 613124 |
HYDROPS FETALIS, NONIMMUNE, WITH GRACILE BONES AND DYSMORPHIC FEATURES |
| 613135 |
PARKINSONISM-DYSTONIA, INFANTILE; PKDYS |
| 613161 |
BETA-UREIDOPROPIONASE DEFICIENCY |
| 613162 |
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE; SPG45 |
| 613163 |
GABA-TRANSAMINASE DEFICIENCY |
| 613174 |
CHROMOSOME 5p13 DUPLICATION SYNDROME |
| 613179 |
PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY |
| 613180 |
POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA |
| 613217 |
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL; DIAR5 |
| 613225 |
FACTOR XIII, A SUBUNIT, DEFICIENCY OF |
| 613227 |
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3; CAMRQ3 |
| 613229 |
TRICHOTILLOMANIA; TTM |
| 613235 |
FACTOR XIII, B SUBUNIT, DEFICIENCY OF |
| 613254 |
TUBEROUS SCLEROSIS 2; TSC2 TSC2 ANGIOMYOLIPOMAS, RENAL, MODIFIER OF, INCLUDED |
| 613265 |
WAARDENBURG SYNDROME, TYPE 4B; WS4B |
| 613266 |
WAARDENBURG SYNDROME, TYPE 4C; WS4C |
| 613319 |
MIYOSHI MUSCULAR DYSTROPHY 3; MMD3 |
| 613320 |
CHONDRODYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE |
| 613327 |
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4 |
| 613328 |
ROIFMAN-CHITAYAT SYNDROME |
| 613329 |
PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY |
| 613339 |
EPILEPSY, HOT WATER, 1; HWE1 |
| 613341 |
LEBER CONGENITAL AMAUROSIS 14; LCA14 RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED, INCLUDED |
| 613345 |
HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2; HOKPP2 |
| 613353 |
MONONEUROPATHY OF THE MEDIAN NERVE, MILD; MNMN |
| 613355 |
CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME |
| 613376 |
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC; HMN2C |
| 613382 |
BRACHYDACTYLY, TYPE E2; BDE2 |
| 613391 |
DEAFNESS, AUTOSOMAL RECESSIVE 84; DFNB84 |
| 613406 |
CHROMOSOME 15q24 DELETION SYNDROME CHROMOSOME 15q24 DUPLICATION SYNDROME, INCLUDED |
| 613424 |
CARDIOMYOPATHY, DILATED, 1R; CMD1R LEFT VENTRICULAR NONCOMPACTION 4, INCLUDED; LVNC4, INCLUDED |
| 613470 |
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY |
| 613675 |
CHROMOSOME 17q11.2 DELETION SYNDROME, 1.4-MB |
| 613697 |
CARDIOMYOPATHY, DILATED, 1V; CMD1V |
| 613703 |
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6 |
| 613731 |
RETINITIS PIGMENTOSA 4; RP4 |
| 613752 |
HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY |
