Phenodigm > Diseases

Disease ID Disease name
DECIPHER:18 1P36 MICRODELETION SYNDROME
DECIPHER:20 22Q13 DELETION SYNDROME (PHELAN-MCDERMID SYNDROME)
DECIPHER:32 22Q11 DUPLICATION SYNDROME
DECIPHER:45 XQ28 (MECP2) DUPLICATION
DECIPHER:66 15Q24 RECURRENT MICRODELETION SYNDROME
DECIPHER:68 16P11.2-P12.2 MICRODELETION SYNDROME
DECIPHER:72 22Q11.2 DISTAL DELETION SYNDROME
DECIPHER:74 15Q13.3 MICRODELETION SYNDROME
DECIPHER:76 12Q14 MICRODELETION SYNDROME
DECIPHER:81 15Q26 OVERGROWTH SYNDROME
OMIM:100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT
OMIM:100070 AORTIC ANEURYSM, FAMILIAL ABDOMINAL, 1; AAA1
OMIM:100100 ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND
OMIM:100200 ABDUCENS PALSY
OMIM:100300 ADAMS-OLIVER SYNDROME 1; AOS1
OMIM:100600 ACANTHOSIS NIGRICANS
OMIM:100675 ACETAMINOPHEN METABOLISM
OMIM:100700 ACHARD SYNDROME
OMIM:100800 ACHONDROPLASIA; ACH
OMIM:101000 NEUROFIBROMATOSIS, TYPE II; NF2
OMIM:101120 ACROCEPHALOPOLYSYNDACTYLY TYPE III
OMIM:101200 APERT SYNDROME
OMIM:101400 SAETHRE-CHOTZEN SYNDROME; SCS
OMIM:101600 PFEIFFER SYNDROME
OMIM:101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1
OMIM:101805 ACROFACIAL DYSOSTOSIS, CATANIA TYPE
OMIM:101840 ACROKERATODERMA, HEREDITARY PAPULOTRANSLUCENT
OMIM:101850 KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE III; PPKP3
OMIM:101900 ACROKERATOSIS VERRUCIFORMIS; AKV
OMIM:102000 ACROLEUKOPATHY, SYMMETRIC
OMIM:102100 ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA
OMIM:102150 ACROMEGALOID FACIAL APPEARANCE SYNDROME
OMIM:102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING
OMIM:102300 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1; RLS1
OMIM:102350 ACROMIAL DIMPLES
OMIM:102370 ACROMICRIC DYSPLASIA; ACMICD
OMIM:102400 ACROOSTEOLYSIS
OMIM:102500 HAJDU-CHENEY SYNDROME; HJCYS
OMIM:102510 ACROPECTOROVERTEBRAL DYSPLASIA; ACRPV
OMIM:102520 ACRORENAL SYNDROME
OMIM:102530 SPERMATOGENIC FAILURE 6; SPGF6
OMIM:102650 ADACTYLIA, UNILATERAL
OMIM:102660 ADAMANTINOMA OF LONG BONES
OMIM:102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,
OMIM:102730 ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO
OMIM:102800 ADENOSINE TRIPHOSPHATASE DEFICIENCY, ANEMIA DUE TO
OMIM:102900 ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES
OMIM:103050 ADENYLOSUCCINASE DEFICIENCY
OMIM:103100 ADIE PUPIL
OMIM:103200 ADIPOSIS DOLOROSA
OMIM:103230 ADRENOCORTICAL HYPOFUNCTION, CHRONIC PRIMARY CONGENITAL
OMIM:103285 ADULT SYNDROME
OMIM:103300 HYPOGLOSSIA-HYPODACTYLIA
OMIM:103400 AINHUM
OMIM:103420 ALACRIMA, CONGENITAL
OMIM:103470 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS
OMIM:103500 TIETZ SYNDROME
OMIM:103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A
OMIM:103900 GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM; GRA
OMIM:103920 ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS, FAMILIAL
OMIM:104000 ALOPECIA AREATA 1
OMIM:104100 PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA, AUTOSOMAL DOMINANT
OMIM:104110 ALOPECIA, FAMILIAL FOCAL
OMIM:104130 ALOPECIA, PSYCHOMOTOR EPILEPSY, PYORRHEA, AND MENTAL SUBNORMALITY
OMIM:104200 ALPORT SYNDROME, AUTOSOMAL DOMINANT
OMIM:104290 ALTERNATING HEMIPLEGIA OF CHILDHOOD 1; AHC1
OMIM:104300 ALZHEIMER DISEASE; AD
OMIM:104310 ALZHEIMER DISEASE 2
OMIM:104350 AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM
OMIM:104400 AMELIA AND TERMINAL TRANSVERSE HEMIMELIA
OMIM:104500 AMELOGENESIS IMPERFECTA, TYPE IB; AI1B
OMIM:104510 AMELOGENESIS IMPERFECTA, TYPE IV; AI4
OMIM:104530 AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE
OMIM:104570 AMELOONYCHOHYPOHIDROTIC SYNDROME
OMIM:104600 AMENORRHEA-GALACTORRHEA SYNDROME
OMIM:105120 AMYLOIDOSIS, FINNISH TYPE
OMIM:105150 CEREBRAL AMYLOID ANGIOPATHY, CST3-RELATED
OMIM:105200 AMYLOIDOSIS, FAMILIAL VISCERAL
OMIM:105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
OMIM:105250 AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1; PLCA1
OMIM:105300 AMYOTROPHIC DYSTONIC PARAPLEGIA
OMIM:105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1
OMIM:105500 AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1
OMIM:105550 FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS; FTDALS
OMIM:105563 ANAL SPHINCTER DYSPLASIA; ASDP
OMIM:105565 ANAL SPHINCTER MYOPATHY, INTERNAL
OMIM:105580 ANAL CANAL CARCINOMA
OMIM:105600 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE III; CDAN3
OMIM:105650 DIAMOND-BLACKFAN ANEMIA; DBA
OMIM:105800 ANEURYSM, INTRACRANIAL BERRY, 1; ANIB1
OMIM:105805 ANEURYSM OF INTERVENTRICULAR SEPTUM
OMIM:105830 ANGELMAN SYNDROME; AS
OMIM:105835 ANGEL-SHAPED PHALANGOEPIPHYSEAL DYSPLASIA; ASPED
OMIM:106050 ANGIOMA SERPIGINOSUM, AUTOSOMAL DOMINANT
OMIM:106070 ANGIOMA, HEREDITARY NEUROCUTANEOUS
OMIM:106100 ANGIOEDEMA, HEREDITARY, TYPE I; HAE1
OMIM:106190 ANHIDROSIS, FAMILIAL GENERALIZED, WITH NORMAL SWEAT GLANDS
OMIM:106210 ANIRIDIA; AN
OMIM:106220 ANIRIDIA AND ABSENT PATELLA
OMIM:106230 ANIRIDIA, MICROCORNEA, AND SPONTANEOUSLY REABSORBED CATARACT
OMIM:106240 ANISOCORIA
OMIM:106250 ANKYLOBLEPHARON FILIFORME ADNATUM AND CLEFT PALATE; AFA
OMIM:106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE
OMIM:106280 ANKYLOGLOSSIA
OMIM:106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1
OMIM:106400 ANKYLOSING VERTEBRAL HYPEROSTOSIS WITH TYLOSIS
OMIM:106500 ANNULAR ERYTHEMA
OMIM:106600 TOOTH AGENESIS, SELECTIVE, 1; STHAG1
OMIM:106700 TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1; TAPVR1
OMIM:106750 ANONYCHIA WITH FLEXURAL PIGMENTATION
OMIM:106900 ANONYCHIA-ECTRODACTYLY
OMIM:106990 ANONYCHIA-ONYCHODYSTROPHY WITH BRACHYDACTYLY TYPE B AND ECTRODACTYLY
OMIM:106995 ANONYCHIA-ONYCHODYSTROPHY WITH HYPOPLASIA OR ABSENCE OF DISTAL PHALANGES
OMIM:107000 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 6; NDNC6
OMIM:107100 ANORECTAL ANOMALIES
OMIM:107200 ANOSMIA, ISOLATED CONGENITAL; ANIC
OMIM:107250 ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS; ASMD
OMIM:107320 ANTIPHOSPHOLIPID SYNDROME, FAMILIAL
OMIM:107480 TOWNES-BROCKS SYNDROME; TBS
OMIM:107500 AORTIC ARCH ANOMALY WITH PECULIAR FACIES AND MENTAL RETARDATION
OMIM:107550 AORTIC ARCH INTERRUPTION, FACIAL PALSY, AND RETINAL COLOBOMA
OMIM:107600 APLASIA CUTIS CONGENITA, NONSYNDROMIC; ACC
OMIM:107640 APNEA, CENTRAL SLEEP
OMIM:107650 APNEA, OBSTRUCTIVE SLEEP
OMIM:107700 APPENDICITIS, PRONENESS TO
OMIM:107900 ARMS, MALFORMATION OF
OMIM:107970 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1
OMIM:108010 ARTERIOVENOUS MALFORMATIONS OF THE BRAIN
OMIM:108050 ARTERITIS, FAMILIAL GRANULOMATOUS, WITH JUVENILE POLYARTHRITIS
OMIM:108100 ARTHRITIS, SACROILIAC
OMIM:108110 ARTHROGRYPOSIS MULTIPLEX CONGENITA; AMC
OMIM:108120 ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A
OMIM:108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5
OMIM:108200 ARTHROGRYPOSIS, DISTAL, TYPE 6; DA6
OMIM:108300 STICKLER SYNDROME, TYPE I; STL1
OMIM:108320 ARTICHOKE, MODIFICATION OF TASTE BY
OMIM:108450 ASYMMETRIC SHORT STATURE SYNDROME
OMIM:108500 EPISODIC ATAXIA, TYPE 2; EA2
OMIM:108600 SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1
OMIM:108650 SPASTIC ATAXIA 7, AUTOSOMAL DOMINANT; SPAX7
OMIM:108700 ATAXIA WITH FASCICULATIONS
OMIM:108720 ATELOSTEOGENESIS, TYPE I; AOI
OMIM:108721 ATELOSTEOGENESIS, TYPE III; AOIII
OMIM:108725 ATHEROSCLEROSIS SUSCEPTIBILITY; ATHS
OMIM:108760 ATRESIA OF EXTERNAL AUDITORY CANAL AND CONDUCTIVE DEAFNESS
OMIM:108770 ATRIAL STANDSTILL
OMIM:108800 ATRIAL SEPTAL DEFECT 1; ASD1
OMIM:108900 ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION
OMIM:108950 ATRIAL TACHYARRHYTHMIA WITH SHORT PR INTERVAL
OMIM:108985 SVEINSSON CHORIORETINAL ATROPHY; SCRA
OMIM:109000 AURICULOOSTEODYSPLASIA
OMIM:109050 AUROCEPHALOSYNDACTYLY
OMIM:109100 AUTOIMMUNE DISEASE
OMIM:109120 AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE
OMIM:109130 AXIAL OSTEOMALACIA
OMIM:109150 MACHADO-JOSEPH DISEASE; MJD
OMIM:109160 AZOTEMIA, FAMILIAL
OMIM:109200 ALOPECIA, ANDROGENETIC, 1; AGA1
OMIM:109300 BANKI SYNDROME
OMIM:109350 GASTROESOPHAGEAL REFLUX; GER
OMIM:109400 BASAL CELL NEVUS SYNDROME; BCNS
OMIM:109500 BASILAR IMPRESSION, PRIMARY
OMIM:109543 LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 2
OMIM:109650 BEHCET SYNDROME
OMIM:109720 BILIARY CIRRHOSIS, PRIMARY, 1; PBC1
OMIM:109730 AORTIC VALVE DISEASE 1; AOVD1
OMIM:109740 BIFID NOSE, AUTOSOMAL DOMINANT
OMIM:109800 BLADDER CANCER
OMIM:109820 BLADDER DIVERTICULUM
OMIM:109900 BLEPHAROCHALASIS AND DOUBLE LIP
OMIM:110000 BLEPHAROCHALASIS, SUPERIOR
OMIM:110050 BLEPHARONASOFACIAL MALFORMATION SYNDROME
OMIM:110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES
OMIM:110150 BLEPHAROPTOSIS, MYOPIA, AND ECTOPIA LENTIS
OMIM:110700 BLOOD GROUP, DUFFY SYSTEM; FY
OMIM:110800 BLOOD GROUP--I SYSTEM; Ii
OMIM:111150 BLOOD GROUP--LUTHERAN INHIBITOR; INLU
OMIM:111620 RADIN BLOOD GROUP ANTIGEN; RD
OMIM:112200 BLUE RUBBER BLEB NEVUS
OMIM:112240 BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS,
OMIM:112250 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA;
OMIM:112270 BONE PAIN, PERIODIC
OMIM:112300 BOOK SYNDROME
OMIM:112310 BOOMERANG DYSPLASIA
OMIM:112350 WEISMANN-NETTER SYNDROME; WNS
OMIM:112370 BRACHMANN-DE LANGE-LIKE FACIAL CHANGES WITH MICROCEPHALY, METATARSUS
OMIM:112410 HYPERTENSION WITH BRACHYDACTYLY
OMIM:112430 LONG-THUMB BRACHYDACTYLY SYNDROME
OMIM:112440 BRACHYDACTYLY, COMBINED B AND E TYPES
OMIM:112450 BRACHYDACTYLY, PREAXIAL, WITH HALLUX VARUS AND THUMB ABDUCTION
OMIM:112500 BRACHYDACTYLY, TYPE A1; BDA1
OMIM:112600 BRACHYDACTYLY, TYPE A2; BDA2
OMIM:112700 BRACHYDACTYLY, TYPE A3; BDA3
OMIM:112800 BRACHYDACTYLY, TYPE A4; BDA4
OMIM:112910 BRACHYDACTYLY, TYPE A6; BDA6
OMIM:113000 BRACHYDACTYLY, TYPE B1; BDB1
OMIM:113100 BRACHYDACTYLY, TYPE C; BDC
OMIM:113200 BRACHYDACTYLY, TYPE D; BDD
OMIM:113300 BRACHYDACTYLY, TYPE E1; BDE1
OMIM:113301 BRACHYDACTYLY, TYPE E, WITH ATRIAL SEPTAL DEFECT, TYPE II
OMIM:113310 BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA
OMIM:113400 BRACHYDACTYLY-NYSTAGMUS-CEREBELLAR ATAXIA
OMIM:113450 BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME
OMIM:113470 BRACHYMESOMELIA-RENAL SYNDROME
OMIM:113475 BRACHYMETATARSUS IV
OMIM:113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME
OMIM:113480 BRACHYTELEPHALANGY WITH CHARACTERISTIC FACIES AND KALLMANN SYNDROME
OMIM:113500 BRACHYOLMIA TYPE 3
OMIM:113600 BRANCHIAL CLEFT ANOMALIES
OMIM:113610 BRANCHIAL MYOCLONUS WITH SPASTIC PARAPARESIS AND CEREBELLAR ATAXIA
OMIM:113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS
OMIM:113650 BRANCHIOOTORENAL SYNDROME 1; BOR1
OMIM:113670 HYPERTROPHY OF THE BREAST, JUVENILE; JHB
OMIM:113700 BREASTS AND NIPPLES, ABSENCE OF
OMIM:113750 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 4; SHEP4
OMIM:113800 EPIDERMOLYTIC HYPERKERATOSIS; EHK
OMIM:113900 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A
OMIM:113950 BUNDLE BRANCH BLOCK, FAMILIAL ISOLATED COMPLETE RIGHT
OMIM:113970 BURKITT LYMPHOMA; BL
OMIM:114000 CAFFEY DISEASE
OMIM:114030 CAFE-AU-LAIT SPOTS, MULTIPLE
OMIM:114065 CALCIFIC AORTIC DISEASE WITH IMMUNOLOGIC ABNORMALITIES, FAMILIAL
OMIM:114100 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET
OMIM:114140 CALLOSITIES, HEREDITARY PAINFUL
OMIM:114150 CAMPTOBRACHYDACTYLY
OMIM:114200 CAMPTODACTYLY 1; CAMPD1
OMIM:114290 CAMPOMELIC DYSPLASIA
OMIM:114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3
OMIM:114450 CANCER, FAMILIAL, WITH IN VITRO RADIORESISTANCE
OMIM:114480 BREAST CANCER
OMIM:114500 COLORECTAL CANCER; CRC
OMIM:114550 HEPATOCELLULAR CARCINOMA
OMIM:114580 CANDIDIASIS, FAMILIAL, 1; CANDF1
OMIM:114600 CANINE TEETH, ABSENCE OF UPPER PERMANENT
OMIM:114620 CRANIOFACIOFRONTODIGITAL SYNDROME
OMIM:114650 CAR FACTOR DEFICIENCY
OMIM:114700 CARABELLI ANOMALY OF MAXILLARY MOLAR TEETH
OMIM:114900 CARCINOID TUMORS, INTESTINAL
OMIM:115000 CARDIAC ARRHYTHMIA
OMIM:115080 CARDIAC CONDUCTION DEFECT
OMIM:115150 CARDIOFACIOCUTANEOUS SYNDROME
OMIM:115195 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2
OMIM:115196 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3; CMH3
OMIM:115197 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4
OMIM:115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A
OMIM:115210 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1
OMIM:115250 COLLAGENOMA, FAMILIAL CUTANEOUS
OMIM:115300 HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT
OMIM:115310 PARAGANGLIOMAS 4; PGL4
OMIM:115430 CARPAL TUNNEL SYNDROME; CTS1
OMIM:115470 CAT EYE SYNDROME; CES
OMIM:115645 CATARACT, ABERRANT ORAL FRENULA, AND GROWTH RETARDATION
OMIM:115650 CATARACT, ANTERIOR POLAR, 1; CTAA1
OMIM:115660 CATARACT, CONGENITAL, CERULEAN TYPE, 1; CCA1
OMIM:115665 CATARACT, CONGENITAL, VOLKMANN TYPE; CCV
OMIM:115700 CATARACT 4, MULTIPLE TYPES; CTRCT4
OMIM:115800 CATARACT, CRYSTALLINE CORALLIFORM
OMIM:115900 CATARACT, FLORIFORM
OMIM:116100 CATARACT, MEMBRANOUS
OMIM:116200 CATARACT 1, MULTIPLE TYPES; CTRCT1
OMIM:116300 CATARACT, NUCLEAR DIFFUSE NONPROGRESSIVE
OMIM:116400 CATARACT, NUCLEAR TOTAL
OMIM:116600 CATARACT, POSTERIOR POLAR, 1; CTPP1
OMIM:116700 CATARACT, TOTAL CONGENITAL; CC
OMIM:116800 CATARACT, LAMELLAR
OMIM:116850 CATATRICHY
OMIM:116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM
OMIM:116870 CELIAC ARTERY STENOSIS FROM COMPRESSION BY MEDIAN ARCUATE LIGAMENT
OMIM:116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD
OMIM:116950 TEMPERATURE-SENSITIVE AF8 COMPLEMENT; AF8T
OMIM:117000 CENTRAL CORE DISEASE OF MUSCLE
OMIM:117100 CENTRALOPATHIC EPILEPSY
OMIM:117210 SPINOCEREBELLAR ATAXIA 31; SCA31
OMIM:117300 CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2
OMIM:117360 SPINOCEREBELLAR ATAXIA 29; SCA29
OMIM:117550 SOTOS SYNDROME 1; SOTOS1
OMIM:117600 CEREBRAL SARCOMA
OMIM:117650 CEREBROCOSTOMANDIBULAR SYNDROME
OMIM:117800 APOCRINE GLAND SECRETION, VARIATION IN
OMIM:117850 CERVICAL HYPERTRICHOSIS WITH UNDERLYING KYPHOSCOLIOSIS
OMIM:117900 CERVICAL RIB
OMIM:118000 CERVICAL VERTEBRAL BRIDGE
OMIM:118005 CERVICAL VERTEBRAL DYSPLASIA
OMIM:118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1
OMIM:118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B
OMIM:118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1
OMIM:118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A
OMIM:118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE
OMIM:118300 CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS
OMIM:118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM
OMIM:118330 CHEILITIS GLANDULARIS
OMIM:118350 CHEMODECTOMA, INTRAABDOMINAL, WITH CUTANEOUS ANGIOLIPOMAS
OMIM:118400 CHERUBISM
OMIM:118420 CHIARI MALFORMATION TYPE I
OMIM:118430 CHLORPROPAMIDE-ALCOHOL FLUSHING; CPAF
OMIM:118450 ALAGILLE SYNDROME 1; ALGS1
OMIM:118600 CHONDROCALCINOSIS 2; CCAL2
OMIM:118610 CHONDROCALCINOSIS DUE TO APATITE CRYSTAL DEPOSITION
OMIM:118650 CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANT
OMIM:118651 CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE
OMIM:118700 CHOREA, BENIGN HEREDITARY; BHC
OMIM:118750 CHOREOATHETOSIS, FAMILIAL INVERTED
OMIM:118800 PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1
OMIM:118830 CHYLOMICRONEMIA, FAMILIAL, DUE TO CIRCULATING INHIBITOR OF LIPOPROTEIN
OMIM:118865 CHOROIDAL OSTEOMA, BILATERAL
OMIM:118900 CIRRHOSIS, FAMILIAL
OMIM:118980 CLAVICLE, PSEUDARTHROSIS OF, CONGENITAL
OMIM:119000 CLEFT CHIN
OMIM:119100 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1; SHFLD1
OMIM:119300 VAN DER WOUDE SYNDROME 1; VWS1
OMIM:119500 POPLITEAL PTERYGIUM SYNDROME; PPS
OMIM:119530 OROFACIAL CLEFT 1; OFC1
OMIM:119540 CLEFT PALATE, ISOLATED; CPI
OMIM:119550 SYNGNATHIA
OMIM:119570 CLEFT SOFT PALATE
OMIM:119580 BLEPHAROCHEILODONTIC SYNDROME; BCDS
OMIM:119600 CLEIDOCRANIAL DYSPLASIA; CCD
OMIM:119650 CLEIDORHIZOMELIC SYNDROME
OMIM:119800 CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR
OMIM:119900 DIGITAL CLUBBING, ISOLATED CONGENITAL
OMIM:119915 CLUSTER HEADACHE, FAMILIAL
OMIM:120000 COARCTATION OF AORTA
OMIM:120040 COCHLEOSACCULAR DEGENERATION WITH PROGRESSIVE CATARACTS
OMIM:120050 COXSACKIEVIRUS B3 SUSCEPTIBILITY; CXB3S
OMIM:120100 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1
OMIM:120200 COLOBOMA, OCULAR
OMIM:120300 COLOBOMA OF MACULA
OMIM:120330 PAPILLORENAL SYNDROME
OMIM:120400 COLOBOMA OF MACULA WITH TYPE B BRACHYDACTYLY
OMIM:120430 COLOBOMA OF OPTIC NERVE
OMIM:120433 COLOBOMA, UVEAL, WITH CLEFT LIP AND PALATE AND MENTAL RETARDATION
OMIM:120435 LYNCH SYNDROME I
OMIM:120440 COLONIC VARICES WITHOUT PORTAL HYPERTENSION
OMIM:120450 COMEDONES, FAMILIAL DYSKERATOTIC
OMIM:120500 COMMISSURAL LIP PITS
OMIM:120502 BRANCHIOOTIC SYNDROME 2
OMIM:120790 COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF
OMIM:120970 CONE-ROD DYSTROPHY 2; CORD2
OMIM:121050 ARTHROGRYPOSIS, DISTAL, TYPE 9; DA9
OMIM:121070 ARTHROGRYPOSIS, DISTAL, TYPE 2E
OMIM:121200 SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1
OMIM:121201 SEIZURES, BENIGN FAMILIAL NEONATAL, 2; BFNS2
OMIM:121210 FEBRILE SEIZURES, FAMILIAL, 1; FEB1
OMIM:121270 COPPER DEFICIENCY, FAMILIAL BENIGN
OMIM:121300 COPROPORPHYRIA, HEREDITARY; HCP
OMIM:121350 CORACOCLAVICULAR JOINT, ANOMALOUS
OMIM:121390 CORNEA GUTTATA WITH ANTERIOR POLAR CATARACTS
OMIM:121400 CORNEA PLANA 1; CNA1
OMIM:121450 CORNEAL DEGENERATION, RIBBONLIKE, WITH DEAFNESS
OMIM:121700 CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT; CHED1
OMIM:121800 SCHNYDER CORNEAL DYSTROPHY; SCCD
OMIM:121820 CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE; EBMD
OMIM:121850 CORNEAL DYSTROPHY, FLECK
OMIM:121900 CORNEAL DYSTROPHY, GROENOUW TYPE I; CDGG1
OMIM:122000 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1; PPCD1
OMIM:122100 CORNEAL DYSTROPHY, MEESMANN; MECD
OMIM:122200 CORNEAL DYSTROPHY, LATTICE TYPE I; LCD1
OMIM:122400 EPITHELIAL RECURRENT EROSION DYSTROPHY; ERED
OMIM:122430 CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS,
OMIM:122440 CORNEODERMATOOSSEOUS SYNDROME
OMIM:122450 CORNEAL HYPESTHESIA, FAMILIAL
OMIM:122455 CORONARY ARTERY DISSECTION, SPONTANEOUS
OMIM:122460 HUMAN CORONAVIRUS SENSITIVITY; HCVS
OMIM:122470 CORNELIA DE LANGE SYNDROME 1; CDLS1
OMIM:122580 COSTOCORACOID LIGAMENT, CONGENITALLY SHORT
OMIM:122600 SPONDYLOCOSTAL DYSOSTOSIS 5, AUTOSOMAL DOMINANT; SCDO5
OMIM:122750 COXA VARA
OMIM:122780 COXOAURICULAR SYNDROME
OMIM:122850 CRANIOACROFACIAL SYNDROME
OMIM:122860 CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CDD
OMIM:122880 CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS
OMIM:122900 CRANIOFACIAL DYSOSTOSIS WITH DIAPHYSEAL HYPERPLASIA
OMIM:123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD
OMIM:123050 CRANIORHINY
OMIM:123100 CRANIOSYNOSTOSIS, TYPE 1; CRS1
OMIM:123150 JACKSON-WEISS SYNDROME; JWS
OMIM:123155 HYDROCEPHALUS, AUTOSOMAL DOMINANT; HDCPH1
OMIM:123270 CREATINE KINASE, BRAIN TYPE, ECTOPIC EXPRESSION OF; CKBE
OMIM:123320 CREATINE PHOSPHOKINASE, ELEVATED SERUM
OMIM:123400 CREUTZFELDT-JAKOB DISEASE; CJD
OMIM:123450 CRI-DU-CHAT SYNDROME
OMIM:123500 CROUZON SYNDROME
OMIM:123540 CRYOFIBRINOGENEMIA, FAMILIAL PRIMARY
OMIM:123550 CRYOGLOBULINEMIA, FAMILIAL MIXED
OMIM:123557 CRYPTOTIA, FAMILIAL
OMIM:123560 CRYPTOMICROTIA-BRACHYDACTYLY SYNDROME
OMIM:123570 CRYPTOPHTHALMOS, UNILATERAL OR BILATERAL, ISOLATED
OMIM:123700 CUTIS LAXA, AUTOSOMAL DOMINANT 1; ADCL1
OMIM:123790 BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS
OMIM:123853 CYPRUS FACIAL NEUROMUSCULOSKELETAL SYNDROME
OMIM:124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1; MC3DN1
OMIM:124100 DANUBIAN ENDEMIC FAMILIAL NEPHROPATHY
OMIM:124200 DARIER-WHITE DISEASE; DAR
OMIM:124300 DARWINIAN TUBERCLE OF PINNA
OMIM:124400 DARWINIAN TUBERCLE OF PINNA
OMIM:124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT; DDOD
OMIM:124490 DEAFNESS, CONDUCTIVE STAPEDIAL, WITH EAR MALFORMATION AND FACIAL PALSY
OMIM:124500 DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF
OMIM:124700 DEAFNESS, MID-TONE NEURAL
OMIM:124900 DEAFNESS, AUTOSOMAL DOMINANT 1; DFNA1
OMIM:124950 DEAFNESS, SENSORINEURAL, WITH PERIPHERAL NEUROPATHY AND ARTERIAL DISEASE
OMIM:125000 DEAFNESS, UNILATERAL
OMIM:125050 DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA
OMIM:125230 DEAFNESS-CRANIOFACIAL SYNDROME
OMIM:125250 OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY,
OMIM:125260 DEFECTIVE INTERFERING PARTICLE INDUCTION, CONTROL OF
OMIM:125280 DENS EVAGINATUS
OMIM:125300 DENS IN DENTE AND PALATAL INVAGINATIONS
OMIM:125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS
OMIM:125320 DEMENTIA/PARKINSONISM WITH NON-ALZHEIMER AMYLOID PLAQUES
OMIM:125350 FAILURE OF TOOTH ERUPTION, PRIMARY; PFE
OMIM:125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA
OMIM:125400 DENTIN DYSPLASIA, TYPE I; DTDP1
OMIM:125420 DENTIN DYSPLASIA, TYPE II
OMIM:125440 DENTIN DYSPLASIA WITH SCLEROTIC BONES
OMIM:125480 MAJOR AFFECTIVE DISORDER 1; MAFD1
OMIM:125490 DENTINOGENESIS IMPERFECTA 1; DGI1
OMIM:125500 DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III
OMIM:125520 CAYLER CARDIOFACIAL SYNDROME
OMIM:125530 DERMAL RIDGES, NELSON SYNDROME
OMIM:125540 DERMAL RIDGES, PATTERNLESS
OMIM:125550 DERMAL RIDGES-OFF-THE-END; ROES
OMIM:125570 DERMATOGLYPHICS--ARCH ON ANY DIGIT
OMIM:125590 DERMATOGLYPHICS--FINGERPRINT PATTERN
OMIM:125595 DERMATOPATHIA PIGMENTOSA RETICULARIS; DPR
OMIM:125600 DERMATOSIS PAPULOSA NIGRA
OMIM:125630 DERMODISTORTIVE URTICARIA; DDU
OMIM:125635 DERMOGRAPHISM, FAMILIAL
OMIM:125640 DERMOODONTODYSPLASIA
OMIM:125700 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL
OMIM:125800 DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL
OMIM:125850 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1; MODY1
OMIM:125851 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; MODY2
OMIM:125852 DIABETES MELLITUS, INSULIN-DEPENDENT, 2
OMIM:125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM
OMIM:125900 DIASTEMA, DENTAL MEDIAL
OMIM:126050 DIGITOTALAR DYSMORPHISM
OMIM:126070 DILUTION, PIGMENTARY
OMIM:126100 DIMPLES, FACIAL
OMIM:126190 DISPROPORTIONATE SHORT STATURE WITH PTOSIS AND VALVULAR HEART LESIONS
OMIM:126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS
OMIM:126250 DISTAL OSTEOSCLEROSIS
OMIM:126300 DISTICHIASIS
OMIM:126320 DISTICHIASIS WITH CONGENITAL ANOMALIES OF THE HEART AND PERIPHERAL
OMIM:126600 DOYNE HONEYCOMB RETINAL DYSTROPHY; DHRD
OMIM:126700 BASAL LAMINAR DRUSEN
OMIM:126800 DUANE RETRACTION SYNDROME 1; DURS1
OMIM:126840 DUODENAL ULCER DUE TO ANTRAL G-CELL HYPERFUNCTION
OMIM:126850 DUODENAL ULCER, HYPERPEPSINOGENEMIC I
OMIM:126900 DUPUYTREN CONTRACTURE
OMIM:126950 DWARFISM WITH TALL VERTEBRAE
OMIM:127000 KENNY-CAFFEY SYNDROME, TYPE 2
OMIM:127100 DWARFISM, LEVI TYPE
OMIM:127200 DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIES
OMIM:127300 LERI-WEILL DYSCHONDROSTEOSIS; LWD
OMIM:127350 DYSCHONDROSTEOSIS AND NEPHRITIS
OMIM:127400 DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1
OMIM:127500 DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1; DUH1
OMIM:127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; DKCA1
OMIM:127600 DYSKERATOSIS, HEREDITARY BENIGN INTRAEPITHELIAL
OMIM:127700 DYSLEXIA, SUSCEPTIBILITY TO, 1; DYX1
OMIM:127750 DEMENTIA, LEWY BODY; DLB
OMIM:127800 DYSPLASIA EPIPHYSEALIS HEMIMELICA
OMIM:127820 DYSPLASIA EPIPHYSEALIS HEMIMELICA WITH CHONDROMAS AND OSTEOCHONDROMAS
OMIM:128000 DYSTELEPHALANGY
OMIM:128100 DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT; DYT1
OMIM:128101 DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT; DYT4
OMIM:128200 EPISODIC KINESIGENIC DYSKINESIA 1; EKD1
OMIM:128230 DYSTONIA, DOPA-RESPONSIVE; DRD
OMIM:128235 DYSTONIA 12; DYT12
OMIM:128290 EAR ANTITRAGUS, TAG AT BASE OF
OMIM:128300 EAR EXOSTOSES
OMIM:128400 EAR FLARE
OMIM:128500 EAR FOLDING
OMIM:128600 EAR MALFORMATION
OMIM:128700 PREAURICULAR FISTULAE, CONGENITAL
OMIM:128710 EAR PITS, POSTERIOR HELICAL
OMIM:128800 EAR WITHOUT HELIX
OMIM:128900 EARLOBE ATTACHMENT, ATTACHED VS UNATTACHED
OMIM:128950 EARLOBE CREASE
OMIM:128980 EARLOBES, THICKENED, WITH CONDUCTIVE DEAFNESS FROM INCUDOSTAPEDIAL
OMIM:129000 EARRING HOLES, NATURAL
OMIM:129100 EARS, ABILITY TO MOVE
OMIM:129150 ECHO VIRUS 11 SENSITIVITY; E11S
OMIM:129200 ADERMATOGLYPHIA WITH CONGENITAL FACIAL MILIA AND ACRAL BLISTERS, DIGITAL
OMIM:129400 RAPP-HODGKIN SYNDROME; RHS
OMIM:129490 ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT;
OMIM:129500 CLOUSTON SYNDROME
OMIM:129510 ECTODERMAL DYSPLASIA, TRICHOODONTOONYCHIAL TYPE
OMIM:129540 ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE AND
OMIM:129550 ECTODERMAL DYSPLASIA WITH ADRENAL CYST
OMIM:129600 ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; ECTOL1
OMIM:129750 ECTOPIA PUPILLAE
OMIM:129810 ECTRODACTYLY AND ECTODERMAL DYSPLASIA WITHOUT CLEFT LIP/PALATE
OMIM:129830 ECTRODACTYLY-CLEFT PALATE SYNDROME
OMIM:129840 EDEMA, FAMILIAL IDIOPATHIC, PREPUBERTAL
OMIM:129850 EDINBURGH MALFORMATION SYNDROME
OMIM:129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME
OMIM:130000 EHLERS-DANLOS SYNDROME, TYPE I
OMIM:130010 EHLERS-DANLOS SYNDROME, TYPE II
OMIM:130020 EHLERS-DANLOS SYNDROME, TYPE III
OMIM:130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT
OMIM:130060 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT
OMIM:130070 EHLERS-DANLOS SYNDROME, PROGEROID FORM
OMIM:130080 EHLERS-DANLOS SYNDROME, TYPE VIII
OMIM:130090 EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED
OMIM:130100 ELASTOSIS PERFORANS SERPIGINOSA; EPS
OMIM:130180 ELECTROENCEPHALOGRAM, LOW-VOLTAGE
OMIM:130190 ELECTROENCEPHALOGRAPHIC PATTERN, BETA FREQUENCY, QUANTITATIVE TRAIT
OMIM:130200 ELECTROENCEPHALOGRAPHIC PECULIARITY: 14 AND 6 PER SEC. POSITIVE SPIKE
OMIM:130300 ELECTROENCEPHALOGRAPHIC PECULIARITY: FRONTO-PRECENTRAL BETA WAVE GROUPS
OMIM:130400 ELECTROENCEPHALOGRAPHIC PECULIARITY: OCCIPITAL SLOW BETA WAVES
OMIM:130600 ELLIPTOCYTOSIS 2; EL2
OMIM:130650 BECKWITH-WIEDEMANN SYNDROME; BWS
OMIM:130700 EMPHYSEMA, HEREDITARY PULMONARY
OMIM:130710 EMPHYSEMA, CONGENITAL LOBAR; CLE
OMIM:130720 LATERAL MENINGOCELE SYNDROME
OMIM:130900 AMELOGENESIS IMPERFECTA, TYPE III; AI3
OMIM:130950 ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD
OMIM:131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1
OMIM:131200 ENDOMETRIOSIS, SUSCEPTIBILITY TO, 1
OMIM:131300 CAMURATI-ENGELMANN DISEASE; CAEND
OMIM:131400 EOSINOPHILIA, FAMILIAL
OMIM:131430 EOSINOPHILOPENIA
OMIM:131440 MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA
OMIM:131450 EPIBLEPHARON OF LOWER LID
OMIM:131460 EPIBLEPHARON OF UPPER LID
OMIM:131500 EPICANTHUS
OMIM:131600 EPIDERMOID CYSTS
OMIM:131705 TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN; TBDN
OMIM:131750 EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT; DDEB
OMIM:131760 EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE
OMIM:131800 EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED
OMIM:131850 EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL
OMIM:131880 EPIDERMOLYSIS BULLOSA WITH DEFICIENCY OF GALACTOSYLHYDROXYLYSYL GLUCOSYLTRANSFERASE
OMIM:131900 EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED
OMIM:131950 EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE
OMIM:131960 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION; EBS-MP
OMIM:132000 EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND
OMIM:132090 EPILEPSY, BENIGN OCCIPITAL; BOE
OMIM:132100 PHOTOPAROXYSMAL RESPONSE; PPR
OMIM:132300 EPILEPSY, READING
OMIM:132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1
OMIM:132450 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS;
OMIM:132500 EPISTAXIS, HEREDITARY
OMIM:132600 PILOMATRIXOMA
OMIM:132700 CYLINDROMATOSIS, FAMILIAL
OMIM:132800 MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO; MSSE
OMIM:132900 AORTIC ANEURYSM, FAMILIAL THORACIC 4; AAT4
OMIM:132990 ERYTHEMA NODOSUM, FAMILIAL
OMIM:133000 ERYTHEMA PALMARE HEREDITARIUM
OMIM:133020 ERYTHERMALGIA, PRIMARY
OMIM:133100 ERYTHROCYTOSIS, FAMILIAL, 1; ECYT1
OMIM:133180 ERYTHROLEUKEMIA, FAMILIAL
OMIM:133190 SPINOCEREBELLAR ATAXIA 34; SCA34
OMIM:133200 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA; EKVP
OMIM:133239 ESOPHAGEAL CANCER
OMIM:133240 ESOPHAGEAL RING, LOWER
OMIM:133500 EXCHONDROSIS OF PINNA, POSTERIOR
OMIM:133540 COCKAYNE SYNDROME, TYPE B; CSB
OMIM:133690 EXOSTOSES WITH ANETODERMIA AND BRACHYDACTYLY, TYPE E
OMIM:133700 EXOSTOSES, MULTIPLE, TYPE I
OMIM:133701 EXOSTOSES, MULTIPLE, TYPE II
OMIM:133705 EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICAL
OMIM:133750 EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATION
OMIM:133780 EXUDATIVE VITREORETINOPATHY 1; EVR1
OMIM:133800 EYEBROW, WHORL IN
OMIM:133900 HEMIFACIAL HYPERPLASIA
OMIM:134000 FACIAL HYPERTRICHOSIS
OMIM:134200 FACIAL PALSY, FAMILIAL RECURRENT PERIPHERAL
OMIM:134300 FACIAL SPASM
OMIM:134400 FACTOR V EXCESS WITH SPONTANEOUS THROMBOSIS
OMIM:134430 FACTOR VII AND FACTOR VIII, COMBINED DEFICIENCY OF
OMIM:134500 FACTOR VIII DEFICIENCY
OMIM:134520 FACTORS VIII, IX AND XI, COMBINED DEFICIENCY OF
OMIM:134600 FANCONI RENOTUBULAR SYNDROME 1; FRTS1
OMIM:134610 FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT
OMIM:134700 FAVISM, SUSCEPTIBILITY TO
OMIM:134750 FELTY SYNDROME
OMIM:134780 FEMORAL-FACIAL SYNDROME; FFS
OMIM:134900 FIBRINOLYTIC DEFECT
OMIM:135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP
OMIM:135150 BIRT-HOGG-DUBE SYNDROME; BHD
OMIM:135290 DESMOID DISEASE, HEREDITARY
OMIM:135300 FIBROMATOSIS, GINGIVAL, 1; GINGF1
OMIM:135400 HYPERTRICHOSIS TERMINALIS, GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA
OMIM:135500 ZIMMERMANN-LABAND SYNDROME; ZLS
OMIM:135550 FIBROMATOSIS, GINGIVAL, WITH PROGRESSIVE DEAFNESS
OMIM:135580 FIBROMUSCULAR DYSPLASIA OF ARTERIES
OMIM:135700 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1; CFEOM1
OMIM:135750 LAURIN-SANDROW SYNDROME
OMIM:135800 FIBULA, RECURRENT DISLOCATION OF HEAD OF
OMIM:135900 COFFIN-SIRIS SYNDROME; CSS
OMIM:135950 FINGER LOCKING, RECURRENT, WITH INTRAUTERINE GROWTH RETARDATION AND
OMIM:136000 ADERMATOGLYPHIA; ADERM
OMIM:136100 FINGERS, RELATIVE LENGTH OF
OMIM:136120 FISH-EYE DISEASE; FED
OMIM:136140 FLOATING-HARBOR SYNDROME; FLHS
OMIM:136200 FLUSHING OF EARS AND SOMNOLENCE
OMIM:136300 FLYNN-AIRD SYNDROME
OMIM:136400 FOCAL EPITHELIAL HYPERPLASIA OF THE ORAL MUCOSA
OMIM:136480 FOURTH CRANIAL NERVE PALSY, FAMILIAL CONGENITAL
OMIM:136500 FOCAL FACIAL DERMAL DYSPLASIA 1, BRAUER TYPE; FFDD1
OMIM:136520 FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME
OMIM:136550 MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE; MCDR1
OMIM:136570 CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB
OMIM:136580 FRAGILE SITE 16q22; FRA16A
OMIM:136600 FRIEDREICH ATAXIA, SO-CALLED, WITH OPTIC ATROPHY AND SENSORINEURAL
OMIM:136610 FRAGILE SITE 2q11
OMIM:136630 MENTAL RETARDATION, FRA12A TYPE
OMIM:136680 FRASIER SYNDROME
OMIM:136760 FRONTONASAL DYSPLASIA 1; FND1
OMIM:136800 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1; FECD1
OMIM:136880 FUNDUS ALBIPUNCTATUS
OMIM:136900 FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY; SFD
OMIM:137000 FUTCHER LINE
OMIM:137040 GALLBLADDER, AGENESIS OF
OMIM:137050 GAMMA-A-GLOBULIN, DEFECT IN ASSEMBLY OF
OMIM:137100 IMMUNOGLOBULIN A DEFICIENCY 1; IGAD1
OMIM:137130 GASTRIC SNEEZING
OMIM:137200 NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE; NMAN
OMIM:137210 GASTRIC VOLVULUS, INTRATHORACIC
OMIM:137215 GASTRIC CANCER, HEREDITARY DIFFUSE; HDGC
OMIM:137245 GASTRIC LYMPHOMA, PRIMARY
OMIM:137270 GASTROCUTANEOUS SYNDROME
OMIM:137280 GASTRITIS, FAMILIAL GIANT HYPERTROPHIC
OMIM:137360 GENOCHONDROMATOSIS
OMIM:137370 GENU VALGUM, ST. HELENA FAMILIAL
OMIM:137400 GEOGRAPHIC TONGUE AND FISSURED TONGUE
OMIM:137440 GERSTMANN-STRAUSSLER DISEASE; GSD
OMIM:137550 GIANT PIGMENTED HAIRY NEVUS; GPHN
OMIM:137560 GIANT PLATELET SYNDROME WITH THROMBOCYTOPENIA
OMIM:137575 GIGANTIFORM CEMENTOMA, FAMILIAL
OMIM:137580 GILLES DE LA TOURETTE SYNDROME; GTS
OMIM:137600 IRIDOGONIODYSGENESIS, TYPE 2; IRID2
OMIM:137700 GLAUCOMA WITH ELEVATED EPISCLERAL VENOUS PRESSURE
OMIM:137750 GLAUCOMA 1, OPEN ANGLE, A; GLC1A
OMIM:137760 GLAUCOMA, PRIMARY OPEN ANGLE; POAG
OMIM:137763 GLAUCOMA AND SLEEP APNEA
OMIM:137800 GLIOMA SUSCEPTIBILITY 1; GLM1
OMIM:137900 GLOBULIN ANOMALY INVOLVING BETA (2A)-GLOBULIN
OMIM:137920 RENAL CYSTS AND DIABETES SYNDROME
OMIM:137940 GLOMERULONEPHRITIS WITH SPARSE HAIR AND TELANGIECTASES
OMIM:137950 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 1; GFND1
OMIM:138000 GLOMUVENOUS MALFORMATIONS; GVM
OMIM:138070 GLUCOGLYCINURIA
OMIM:138500 HYPERGLYCINURIA
OMIM:138770 GMS SYNDROME
OMIM:138790 GOITER, MULTINODULAR, CYSTIC RENAL DISEASE, AND DIGITAL ANOMALIES
OMIM:138800 GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS;
OMIM:138900 URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1; UAQTL1
OMIM:138920 GRANDDAD SYNDROME
OMIM:138930 GRANT SYNDROME
OMIM:138990 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL DOMINANT TYPE
OMIM:139000 GRANULOSIS RUBRA NASI
OMIM:139090 GRAY PLATELET SYNDROME; GPS
OMIM:139100 GRAYING OF HAIR, PRECOCIOUS
OMIM:139210 MYHRE SYNDROME; MYHRS
OMIM:139300 AROMATASE EXCESS SYNDROME; AEXS
OMIM:139393 GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS
OMIM:139400 HAIR WHORL
OMIM:139450 HAIR MORPHOLOGY 2; HRM2
OMIM:139500 HAIRY EARS
OMIM:139600 HAIRY ELBOWS
OMIM:139630 HAIRY NOSE TIP
OMIM:139650 HAIRY PALMS AND SOLES
OMIM:139750 HAND AND FOOT DEFORMITY WITH FLAT FACIES
OMIM:140000 HAND-FOOT-UTERUS SYNDROME
OMIM:140300 HASHIMOTO THYROIDITIS
OMIM:140350 HAWKINSINURIA
OMIM:140400 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE II; PFHB2
OMIM:140450 HEART-HAND SYNDROME, SPANISH TYPE
OMIM:140500 HEART, MALFORMATION OF
OMIM:140600 OSTEOARTHRITIS SUSCEPTIBILITY 2; OS2
OMIM:140700 HEINZ BODY ANEMIAS
OMIM:140850 HEMANGIOMAS, CAVERNOUS, OF FACE AND SUPRAUMBILICAL MIDLINE RAPHE
OMIM:140900 HEMANGIOMAS OF SMALL INTESTINE
OMIM:141000 HEMANGIOMA-THROMBOCYTOPENIA SYNDROME
OMIM:141200 HEMATURIA, BENIGN FAMILIAL; BFH
OMIM:141300 HEMIFACIAL ATROPHY, PROGRESSIVE; HFA
OMIM:141350 HEMIFACIAL HYPERPLASIA WITH STRABISMUS
OMIM:141400 HEMIFACIAL MICROSOMIA WITH RADIAL DEFECTS
OMIM:141405 HEMIFACIAL SPASM, FAMILIAL
OMIM:141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1
OMIM:141700 HEMOLYTIC POIKILOCYTIC ANEMIA DUE TO REDUCED ANKYRIN BINDING SITES
OMIM:141749 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1; HBFQTL1
OMIM:141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED
OMIM:142309 HEMOGLOBIN--VARIANTS FOR WHICH THE CHAIN CARRYING THE MUTATION IS
OMIM:142330 HEPATIC ADENOMAS, FAMILIAL
OMIM:142340 DIAPHRAGMATIC HERNIA, CONGENITAL
OMIM:142350 HERNIA, DOUBLE INGUINAL
OMIM:142395 HEPATITIS B VACCINE, RESPONSE TO
OMIM:142400 HERNIA, HIATUS
OMIM:142500 HETEROCHROMIA IRIDIS
OMIM:142623 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1
OMIM:142625 HIRSUTISM, SKELETAL DYSPLASIA, AND MENTAL RETARDATION
OMIM:142630 HISTIOCYTOSIS, PROGRESSIVE MUCINOUS
OMIM:142669 HIP DYSPLASIA, BEUKES TYPE
OMIM:142680 PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT
OMIM:142690 ACNE INVERSA, FAMILIAL, 1; ACNINV1
OMIM:142700 ACETABULAR DYSPLASIA
OMIM:142900 HOLT-ORAM SYNDROME; HOS
OMIM:142945 HOLOPROSENCEPHALY 3; HPE3
OMIM:142946 HOLOPROSENCEPHALY 4; HPE4
OMIM:143000 HORNER SYNDROME, CONGENITAL
OMIM:143050 HUMERORADIAL SYNOSTOSIS
OMIM:143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
OMIM:143100 HUNTINGTON DISEASE; HD
OMIM:143200 WAGNER VITREORETINOPATHY; WGVRP
OMIM:143400 MULTICYSTIC RENAL DYSPLASIA, BILATERAL; MCRD
OMIM:143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD
OMIM:143470 HYPERALPHALIPOPROTEINEMIA 1; HALP1
OMIM:143500 GILBERT SYNDROME
OMIM:143850 ORTHOSTATIC HYPOTENSIVE DISORDER, STREETEN TYPE
OMIM:143860 HYPERCHLORHIDROSIS, ISOLATED
OMIM:143870 HYPERCALCIURIA, ABSORPTIVE, 2; HCA2
OMIM:143880 HYPERCALCEMIA, INFANTILE
OMIM:143890 HYPERCHOLESTEROLEMIA, FAMILIAL
OMIM:144010 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B
OMIM:144050 HYPERHEPARINEMIA
OMIM:144100 HYPERHIDROSIS, GUSTATORY; HYPRG
OMIM:144110 HYPERHIDROSIS PALMARIS ET PLANTARIS; HYPRPP
OMIM:144120 HYPERIMMUNOGLOBULIN G1(A1) SYNDROME
OMIM:144150 HYPERKERATOSIS LENTICULARIS PERSTANS; HLP
OMIM:144190 HYPERKERATOSIS-HYPERPIGMENTATION SYNDROME
OMIM:144200 PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC; EPPK
OMIM:144250 HYPERLIPIDEMIA, FAMILIAL COMBINED; FCHL
OMIM:144300 HYPERLIPOPROTEINEMIA, TYPE II, AND DEAFNESS
OMIM:144600 HYPERLIPOPROTEINEMIA, TYPE IV
OMIM:144650 HYPERLIPOPROTEINEMIA, TYPE V
OMIM:144700 RENAL CELL CARCINOMA, NONPAPILLARY; RCC
OMIM:144750 HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS
OMIM:144755 HYPEROSTOSIS CRANIALIS INTERNA
OMIM:144800 HYPEROSTOSIS FRONTALIS INTERNA
OMIM:145000 HYPERPARATHYROIDISM 1; HRPT1
OMIM:145001 HYPERPARATHYROIDISM 2; HRPT2
OMIM:145100 HYPERPIGMENTATION OF EYELIDS
OMIM:145200 HYPERPIGMENTATION OF FULDAUER AND KUIJPERS
OMIM:145250 HYPERPIGMENTATION, FAMILIAL PROGRESSIVE, 2; FPH2
OMIM:145260 PSEUDOHYPOALDOSTERONISM, TYPE IIA; PHA2A
OMIM:145290 HYPERREFLEXIA; HRX
OMIM:145295 HYPERSECRETION OF ADRENAL ANDROGENS, FAMILIAL
OMIM:145300 HYPERSENSITIVITY PNEUMONITIS, FAMILIAL
OMIM:145350 HYPERTAURINURIC CARDIOMYOPATHY
OMIM:145400 HYPERTELORISM
OMIM:145410 OPITZ GBBB SYNDROME, AUTOSOMAL DOMINANT
OMIM:145420 HYPERTELORISM, TEEBI TYPE
OMIM:145500 HYPERTENSION, ESSENTIAL
OMIM:145590 HYPERTHERMIA, CUTANEOUS, WITH HEADACHES AND NAUSEA
OMIM:145600 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1
OMIM:145650 THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY; PRTH
OMIM:145680 DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA
OMIM:145700 HYPERTRICHOSIS UNIVERSALIS
OMIM:145701 HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE; HTC1
OMIM:145750 HYPERTRIGLYCERIDEMIA, FAMILIAL
OMIM:145800 HYPERTROPHIA MUSCULORUM VERA
OMIM:145900 HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
OMIM:145980 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1
OMIM:145981 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II; HHC2
OMIM:146000 HYPOCHONDROPLASIA; HCH
OMIM:146110 HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA; HH7
OMIM:146160 HYPOMELIA WITH MULLERIAN DUCT ANOMALIES
OMIM:146200 HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH
OMIM:146255 HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE; HDR
OMIM:146300 HYPOPHOSPHATASIA, ADULT
OMIM:146350 HYPOPHOSPHATEMIC BONE DISEASE; HBD
OMIM:146390 CHROMOSOME 18p DELETION SYNDROME
OMIM:146400 HYPOPLASIA OF TEETH ROOTS
OMIM:146450 HYPOSPADIAS 3, AUTOSOMAL; HYSP3
OMIM:146500 MULTIPLE SYSTEM ATROPHY; MSA
OMIM:146510 PALLISTER-HALL SYNDROME; PHS
OMIM:146520 HYPOTRICHOSIS 2; HYPT2
OMIM:146550 HYPOTRICHOSIS 4; HYPT4
OMIM:146590 ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE; IHCM
OMIM:146600 ICHTHYOSIS HYSTRIX GRAVIOR
OMIM:146700 ICHTHYOSIS VULGARIS
OMIM:146720 ICHTHYOSIS--CHEEK--EYEBROW SYNDROME
OMIM:146750 ICHTHYOSIS, LAMELLAR, AUTOSOMAL DOMINANT
OMIM:146800 ICHTHYOSIS, BULLOUS TYPE
OMIM:146830 IMMUNE DEFICIENCY, FAMILIAL VARIABLE
OMIM:146840 IMMUNODEFICIENCY WITH DEFECTIVE LEUKOCYTE AND LYMPHOCYTE FUNCTION
OMIM:146850 IMMUNE SUPPRESSION; IS
OMIM:147050 IgE RESPONSIVENESS, ATOPIC; IGER
OMIM:147060 HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT
OMIM:147250 SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR; SMMCI
OMIM:147251 INCISORS, FUSED MANDIBULAR
OMIM:147300 INCISORS, LONG UPPER CENTRAL
OMIM:147330 INCISORS, LOWER CENTRAL, ABSENCE OF
OMIM:147350 INCISORS, ROTATION OF UPPER CENTRAL
OMIM:147400 INCISORS, SHOVEL-SHAPED
OMIM:147421 INCLUSION BODY MYOSITIS
OMIM:147430 INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL DOMINANT
OMIM:147480 CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1; ICP1
OMIM:147530 INSENSITIVITY TO PAIN WITH HYPERPLASTIC MYELINOPATHY
OMIM:147540 INSECT STINGS, HYPERSENSITIVITY TO
OMIM:147610 IRIS PIGMENT LAYER, CLEAVAGE OF
OMIM:147630 ISLET CELL ADENOMATOSIS
OMIM:147710 INTUSSUSCEPTION
OMIM:147750 IVIC SYNDROME
OMIM:147770 JOHNSON NEUROECTODERMAL SYNDROME
OMIM:147791 JACOBSEN SYNDROME; JBS
OMIM:147800 AASE-SMITH SYNDROME I
OMIM:147820 INTERNAL CAROTID ARTERY, SPONTANEOUS DISSECTION OF
OMIM:147891 SMALL PATELLA SYNDROME; SPS
OMIM:147900 JOINT LAXITY, FAMILIAL
OMIM:147920 KABUKI SYNDROME 1; KABUK1
OMIM:147950 HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2
OMIM:148000 KAPOSI SARCOMA, SUSCEPTIBILITY TO
OMIM:148050 KBG SYNDROME; KBGS
OMIM:148100 KELOID FORMATION
OMIM:148190 KERATITIS, HEREDITARY
OMIM:148200 KERATITIS FUGAX HEREDITARIA
OMIM:148210 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT
OMIM:148300 KERATOCONUS 1; KTCN1
OMIM:148350 KERATODERMA, PALMOPLANTAR, WITH DEAFNESS
OMIM:148360 KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORY
OMIM:148370 KERATOLYTIC WINTER ERYTHEMA
OMIM:148390 KERATOSIS, FAMILIAL ACTINIC
OMIM:148500 TYLOSIS WITH ESOPHAGEAL CANCER; TOC
OMIM:148520 KERATOSIS PALMARIS ET PLANTARIS WITH CLINODACTYLY
OMIM:148600 KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE IA; PPKP1A
OMIM:148700 KERATOSIS PALMOPLANTARIS STRIATA I; PPKS1
OMIM:148730 KERATOSIS, FOCAL PALMOPLANTAR AND GINGIVAL
OMIM:148800 KLEEBLATTSCHAEDEL
OMIM:148820 WAARDENBURG SYNDROME, TYPE 3; WS3
OMIM:148840 KLEINE-LEVIN HIBERNATION SYNDROME
OMIM:149000 KLIPPEL-TRENAUNAY-WEBER SYNDROME
OMIM:149100 KNUCKLE PADS
OMIM:149200 KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS
OMIM:149300 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 2; NDNC2
OMIM:149400 HYPEREKPLEXIA, HEREDITARY 1; HKPX1
OMIM:149500 KYRLE DISEASE
OMIM:149600 LABIA MINORA, INCOMPLETE ADHESION OF
OMIM:149700 LACRIMAL DUCT DEFECT
OMIM:149730 LACRIMOAURICULODENTODIGITAL SYNDROME; LADD
OMIM:150170 LACTIC ACIDOSIS, CHRONIC ADULT FORM
OMIM:150230 TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2
OMIM:150250 LARSEN SYNDROME; LRS
OMIM:150260 LARYNGEAL ABDUCTOR PARALYSIS
OMIM:150270 LARYNGEAL ADDUCTOR PARALYSIS; LAP
OMIM:150280 LARYNGOMALACIA
OMIM:150300 LARYNX, CONGENITAL PARTIAL ATRESIA OF
OMIM:150360 LARYNGEAL WEB, FAMILIAL
OMIM:150400 TOOTH AGENESIS, SELECTIVE, 4; STHAG4
OMIM:150500 LATTICE DEGENERATION OF RETINA LEADING TO RETINAL DETACHMENT
OMIM:150550 LAZY LEUKOCYTE SYNDROME
OMIM:150590 LEG ULCERS, FAMILIAL, OF JUVENILE ONSET
OMIM:150600 LEGG-CALVE-PERTHES DISEASE; LCPD
OMIM:150699 LEIOMYOMA, UTERINE; UL
OMIM:150700 LEIOMYOMA OF VULVA AND ESOPHAGUS
OMIM:150800 HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC
OMIM:150900 LENTIGINES
OMIM:151000 LENTIGINOSIS, CENTROFACIAL NEURODYSRAPHIC
OMIM:151001 LENTIGINOSIS, INHERITED PATTERNED
OMIM:151050 LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM
OMIM:151100 LEOPARD SYNDROME 1
OMIM:151200 LERI PLEONOSTEOSIS
OMIM:151210 PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE; PLSDT
OMIM:151380 LEUKEMIA, ACUTE MONOCYTIC
OMIM:151400 LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL
OMIM:151590 LICHEN SCLEROSUS ET ATROPHICUS; LSA
OMIM:151600 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3; NDNC3
OMIM:151610 LEVATOR-MEDIAL RECTUS SYNKINESIS
OMIM:151620 LICHEN PLANUS, FAMILIAL
OMIM:151623 LI-FRAUMENI SYNDROME 1; LFS1
OMIM:151630 LIP, MEDIAN NODULE OF UPPER
OMIM:151640 LIP, HAMARTOMATOUS
OMIM:151660 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD2
OMIM:151700 LIPOMA OF THE CONJUNCTIVA
OMIM:151800 LIPOMATOSIS, MULTIPLE SYMMETRIC; MSL
OMIM:151900 LIPOMATOSIS, MULTIPLE
OMIM:152420 LITHIUM TRANSPORT
OMIM:152550 LUMBAR STENOSIS, FAMILIAL
OMIM:152600 LUNULAE OF FINGERNAILS
OMIM:152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE
OMIM:152800 LYMPHANGIECTASIA, INTESTINAL
OMIM:152900 LYMPHEDEMA AND CEREBRAL ARTERIOVENOUS ANOMALY
OMIM:152950 MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL
OMIM:153100 LYMPHEDEMA, HEREDITARY, IA
OMIM:153200 LYMPHEDEMA, HEREDITARY, II
OMIM:153300 YELLOW NAIL SYNDROME
OMIM:153400 LYMPHEDEMA-DISTICHIASIS SYNDROME
OMIM:153470 MACROCEPHALY, BENIGN FAMILIAL
OMIM:153480 BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS
OMIM:153550 CHROMOSOME 5q DELETION SYNDROME
OMIM:153600 MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1; WM1
OMIM:153630 MACROGLOSSIA
OMIM:153640 FECHTNER SYNDROME; FTNS
OMIM:153650 EPSTEIN SYNDROME
OMIM:153670 BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT; BSSA2
OMIM:153700 MACULAR DYSTROPHY, VITELLIFORM; VMD
OMIM:153800 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2
OMIM:153840 MACULAR DYSTROPHY, ATYPICAL VITELLIFORM; VMD1
OMIM:153870 MACULAR DYSTROPHY, CONCENTRIC ANNULAR
OMIM:153880 MACULAR EDEMA, CYSTOID
OMIM:153890 MACULAR DYSTROPHY, FENESTRATED SHEEN TYPE
OMIM:154000 MACULES, HEREDITARY CONGENITAL HYPOPIGMENTED AND HYPERPIGMENTED
OMIM:154020 HYPOMAGNESEMIA 2, RENAL; HOMG2
OMIM:154230 46,XY SEX REVERSAL 4; SRXY4
OMIM:154275 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2
OMIM:154276 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3
OMIM:154300 MALOCCLUSION DUE TO PROTUBERANT UPPER FRONT TEETH
OMIM:154400 ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1
OMIM:154500 TREACHER COLLINS SYNDROME 1; TCS1
OMIM:154600 MARCUS GUNN PHENOMENON
OMIM:154700 MARFAN SYNDROME; MFS
OMIM:154750 MARFANOID HYPERMOBILITY SYNDROME
OMIM:154780 MARSHALL SYNDROME; MRSHS
OMIM:154800 MAST CELL DISEASE
OMIM:154850 MASTICATORY MUSCLES, HYPERTROPHY OF
OMIM:155000 MAXILLOFACIAL DYSOSTOSIS
OMIM:155050 MAXILLONASAL DYSPLASIA, BINDER TYPE
OMIM:155100 MAY-HEGGLIN ANOMALY; MHA
OMIM:155140 MECKEL DIVERTICULUM
OMIM:155145 CLEFT, MEDIAN, OF UPPER LIP WITH POLYPS OF FACIAL SKIN AND NASAL MUCOSA
OMIM:155200 MEDIOSTERNAL DEPIGMENTATION LINE
OMIM:155240 THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC
OMIM:155255 MEDULLOBLASTOMA; MDB
OMIM:155310 MEGADUODENUM AND/OR MEGACYSTIS
OMIM:155350 MEGALENCEPHALY
OMIM:155500 MEGALODACTYLY
OMIM:155600 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1; CMM1
OMIM:155601 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2; CMM2
OMIM:155700 MELANOMA, MALIGNANT FAMILIAL INTRAOCULAR
OMIM:155720 MELANOMA, UVEAL
OMIM:155755 MELANOMA-ASTROCYTOMA SYNDROME
OMIM:155800 MELANOSIS, UNIVERSAL
OMIM:155900 MELKERSSON-ROSENTHAL SYNDROME
OMIM:155950 MELORHEOSTOSIS, ISOLATED
OMIM:155980 MEMBRANOUS CRANIAL OSSIFICATION, DELAYED
OMIM:156000 MENIERE DISEASE
OMIM:156190 MENTAL AND GROWTH RETARDATION WITH AMBLYOPIA
OMIM:156200 MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1
OMIM:156230 MESOMELIC DWARFISM OF HYPOPLASTIC TIBIA AND RADIUS TYPE
OMIM:156232 MESOMELIC DYSPLASIA, KANTAPUTRA TYPE
OMIM:156240 MESOTHELIOMA, MALIGNANT; MESOM
OMIM:156250 METACHONDROMATOSIS; METCDS
OMIM:156310 METACHROMATIC LEUKODYSTROPHY, ADULT-ONSET, WITH NORMAL ARYLSULFATASE
OMIM:156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE
OMIM:156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS
OMIM:156510 METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY;
OMIM:156520 METATARSUS VARUS, TYPE I
OMIM:156530 METATROPIC DYSPLASIA
OMIM:156550 KNIEST DYSPLASIA
OMIM:156580 MICROCEPHALY, AUTOSOMAL DOMINANT
OMIM:156600 MICROCORIA, CONGENITAL
OMIM:156610 SKIN CREASES, MULTIPLE BENIGN RING-SHAPED, OF LIMBS
OMIM:156620 MICROCEPHALY-DEAFNESS SYNDROME
OMIM:156700 MICROCORNEA, GLAUCOMA, AND ABSENT FRONTAL SINUSES
OMIM:156810 MICROGASTRIA-LIMB REDUCTION DEFECTS ASSOCIATION; MLRD
OMIM:156830 MICROMELIC BONE DYSPLASIA WITH CLOVERLEAF SKULL
OMIM:156850 MICROPHTHALMIA, ISOLATED, WITH CATARACT 1; MCOPCT1
OMIM:156900 MICROPHTHALMIA, ISOLATED, WITH CORECTOPIA; MCOPCR
OMIM:157150 MICROSPHEROPHAKIA WITH HERNIA
OMIM:157151 MICROSPHEROPHAKIA-METAPHYSEAL DYSPLASIA
OMIM:157170 HOLOPROSENCEPHALY 2; HPE2
OMIM:157200 MIDPHALANGEAL HAIR
OMIM:157300 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
OMIM:157400 MILIA, MULTIPLE ERUPTIVE
OMIM:157600 MIRROR MOVEMENTS 1; MRMV1
OMIM:157640 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,
OMIM:157700 MITRAL VALVE PROLAPSE, FAMILIAL; MVP
OMIM:157800 MITRAL REGURGITATION, CONDUCTIVE DEAFNESS, AND FUSION OF CERVICAL
OMIM:157900 MOEBIUS SYNDROME; MBS
OMIM:157950 PERMANENT MOLARS, SECONDARY RETENTION OF
OMIM:157980 MOMO SYNDROME
OMIM:158000 MONILETHRIX
OMIM:158170 CHROMOSOME 9p DELETION SYNDROME
OMIM:158250 NONDISJUNCTION
OMIM:158300 ARTHROGRYPOSIS, DISTAL, TYPE 7; DA7
OMIM:158310 MUCOEPITHELIAL DYSPLASIA, HEREDITARY
OMIM:158320 MUIR-TORRE SYNDROME; MRTES
OMIM:158330 MULLERIAN APLASIA AND HYPERANDROGENISM
OMIM:158345 MULTIPLE EXOSTOSES WITH SPASTIC TETRAPARESIS
OMIM:158350 COWDEN SYNDROME 1; CWS1
OMIM:158400 MUSCLE CRAMPS, FAMILIAL
OMIM:158500 MUSCULAR ATROPHY, ATAXIA, RETINITIS PIGMENTOSA, AND DIABETES MELLITUS
OMIM:158580 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA; HMN7A
OMIM:158590 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA; HMN2A
OMIM:158600 SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY, AUTOSOMAL DOMINANT; SMALED
OMIM:158650 MUSCULAR ATROPHY, MALIGNANT NEUROGENIC
OMIM:158800 MUSCULAR DYSTROPHY, BARNES TYPE
OMIM:158810 BETHLEM MYOPATHY
OMIM:158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1
OMIM:159000 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A; LGMD1A
OMIM:159001 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B
OMIM:159050 MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC, WITH INTERNALIZED CAPILLARIES
OMIM:159100 MUSCULAR HYPOPLASIA, CONGENITAL UNIVERSAL, OF KRABBE
OMIM:159300 MUSICAL PERFECT PITCH
OMIM:159400 MYASTHENIA, LIMB-GIRDLE, AUTOIMMUNE
OMIM:159410 MYDRIATIC RESPONSE TO PHARMACOLOGIC AGENTS
OMIM:159420 MYDRIASIS, CONGENITAL
OMIM:159500 MYELINATED OPTIC NERVE FIBERS
OMIM:159550 MYELOCEREBELLAR DISORDER
OMIM:159580 MYELOPATHY, HTLV-1-ASSOCIATED; HAM
OMIM:159595 MYELOPROLIFERATIVE SYNDROME, TRANSIENT
OMIM:159600 MYOCLONIC EPILEPSY, HARTUNG TYPE
OMIM:159700 MYOCLONUS AND ATAXIA
OMIM:159800 MYOCLONUS, CEREBELLAR ATAXIA, AND DEAFNESS
OMIM:159900 MYOCLONIC DYSTONIA
OMIM:159950 SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY; SMAPME
OMIM:160010 MYOGLOBINURIA, AUTOSOMAL DOMINANT
OMIM:160120 EPISODIC ATAXIA, TYPE 1; EA1
OMIM:160150 MYOPATHY, CENTRONUCLEAR, 1; CNM1
OMIM:160300 MYOPATHY, DISTAL, WITH ONSET IN INFANCY
OMIM:160500 MYOPATHY, DISTAL, 1; MPD1
OMIM:160565 MYOPATHY, TUBULAR AGGREGATE; TAM
OMIM:160570 MYOPATHY WITH STORAGE OF GLYCOPROTEINS AND GLYCOSAMINOGLYCANS
OMIM:160700 MYOPIA 2, AUTOSOMAL DOMINANT; MYP2
OMIM:160750 MYOSITIS
OMIM:160800 MYOTONIA CONGENITA, AUTOSOMAL DOMINANT
OMIM:160900 MYOTONIC DYSTROPHY 1; DM1
OMIM:160980 CARNEY COMPLEX, TYPE 1; CNC1
OMIM:160990 MYOTONIC MYOPATHY WITH CYLINDRICAL SPIRALS
OMIM:161000 NAEGELI SYNDROME
OMIM:161050 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 1; NDNC1
OMIM:161070 NAIL HIGH-SULFUR PROTEIN
OMIM:161080 NAIL LOW-SULFUR PROTEIN
OMIM:161100 NAILBEDS, PIGMENTATION OF
OMIM:161200 NAIL-PATELLA SYNDROME; NPS
OMIM:161400 NARCOLEPSY 1; NRCLP1
OMIM:161470 NASAL ALAR COLLAPSE, BILATERAL
OMIM:161480 NASAL BONES, ABSENCE OF
OMIM:161500 NASAL GROOVE, FAMILIAL TRANSVERSE
OMIM:161530 NASAL HYPERPIGMENTATION, FAMILIAL TRANSVERSE
OMIM:161550 NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 2
OMIM:161700 NECROTIZING ENCEPHALOMYELOPATHY, SUBACUTE, OF LEIGH, ADULT
OMIM:161800 NEMALINE MYOPATHY 3; NEM3
OMIM:161900 RENAL FAILURE, PROGRESSIVE, WITH HYPERTENSION; RFH1
OMIM:161950 IgA NEPHROPATHY, SUSCEPTIBILITY TO, 1; IGAN1
OMIM:162000 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1; HNFJ1
OMIM:162091 SCHWANNOMATOSIS
OMIM:162100 AMYOTROPHY, HEREDITARY NEURALGIC; HNA
OMIM:162200 NEUROFIBROMATOSIS, TYPE I; NF1
OMIM:162210 NEUROFIBROMATOSIS, FAMILIAL SPINAL
OMIM:162240 NEUROFIBROMATOSIS-PHEOCHROMOCYTOMA-DUODENAL CARCINOID SYNDROME
OMIM:162260 NEUROFIBROMATOSIS, TYPE III, MIXED CENTRAL AND PERIPHERAL; NF3A
OMIM:162270 NEUROFIBROMATOSIS, TYPE IV, OF RICCARDI; NF4
OMIM:162300 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B
OMIM:162350 CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT; CLN4B
OMIM:162370 NEUROPATHY, CONGENITAL, WITH ARTHROGRYPOSIS MULTIPLEX
OMIM:162380 NEUROPATHY, HEREDITARY SENSORIMOTOR, WITH UPPER MOTOR NEURON, VISUAL
OMIM:162400 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA; HSAN1A
OMIM:162500 NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP
OMIM:162600 NEUROPATHY, WITH PARAPROTEIN IN SERUM, CEREBROSPINAL FLUID AND URINE
OMIM:162700 NEUTROPENIA, CHRONIC FAMILIAL
OMIM:162800 CYCLIC NEUTROPENIA
OMIM:162820 NEUTROPHIL MIGRATION; NM
OMIM:162830 NEUTROPHILIA, HEREDITARY
OMIM:162900 NEVUS, EPIDERMAL
OMIM:163000 CAPILLARY MALFORMATIONS, CONGENITAL, 1
OMIM:163050 NEVUS ANEMICUS
OMIM:163100 NEVUS FLAMMEUS OF NAPE OF NECK
OMIM:163200 SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME; SFM
OMIM:163400 NIEVERGELT SYNDROME
OMIM:163500 NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2; CSNBAD2
OMIM:163600 NIPPLES INVERTED
OMIM:163700 NIPPLES, SUPERNUMERARY
OMIM:163800 SICK SINUS SYNDROME 2, AUTOSOMAL DOMINANT; SSS2
OMIM:163850 NODULI CUTANEI, MULTIPLE, WITH URINARY TRACT ABNORMALITIES
OMIM:163950 NOONAN SYNDROME 1; NS1
OMIM:164000 NOSE, ANOMALOUS SHAPE OF
OMIM:164100 NYSTAGMUS 2, CONGENITAL, AUTOSOMAL DOMINANT; NYS2
OMIM:164150 NYSTAGMUS, HEREDITARY VERTICAL
OMIM:164170 NYSTAGMUS, VOLUNTARY
OMIM:164180 OCULOCEREBROCUTANEOUS SYNDROME
OMIM:164185 OCULAR CICATRICIAL PEMPHIGOID; OCP
OMIM:164200 OCULODENTODIGITAL DYSPLASIA; ODDD
OMIM:164210 HEMIFACIAL MICROSOMIA; HFM
OMIM:164220 SCHILBACH-ROTT SYNDROME
OMIM:164230 OBSESSIVE-COMPULSIVE DISORDER; OCD
OMIM:164280 FEINGOLD SYNDROME 1; FGLDS1
OMIM:164300 OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD
OMIM:164310 OCULOPHARYNGODISTAL MYOPATHY; OPDM
OMIM:164330 ODONTOMA-DYSPHAGIA SYNDROME
OMIM:164400 SPINOCEREBELLAR ATAXIA 1; SCA1
OMIM:164500 SPINOCEREBELLAR ATAXIA 7; SCA7
OMIM:164680 ONYCHOGRYPOSIS, PEDAL, WITH KERATOSIS PLANTARIS AND COARSE HAIR
OMIM:164700 OLIVOPONTOCEREBELLAR ATROPHY V; OPCA V
OMIM:164745 OMODYSPLASIA 2; OMOD2
OMIM:164750 OMPHALOCELE, AUTOSOMAL
OMIM:164800 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 5; NDNC5
OMIM:164900 OPHTHALMOMANDIBULOMELIC DYSPLASIA
OMIM:165000 OPHTHALMOPLEGIA, FAMILIAL STATIC
OMIM:165098 OPHTHALMOPLEGIA, FAMILIAL TOTAL, WITH IRIS TRANSILLUMINATION
OMIM:165150 OPHTHALMOPLEGIA, PROGRESSIVE, WITH SCROTAL TONGUE AND MENTAL DEFICIENCY
OMIM:165199 OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMAL
OMIM:165200 OPTIC ATROPHY WITH DEMYELINATING DISEASE OF CNS
OMIM:165300 OPTIC ATROPHY 3, AUTOSOMAL DOMINANT
OMIM:165500 OPTIC ATROPHY 1; OPA1
OMIM:165510 OPTIC ATROPHY WITH NEGATIVE ELECTRORETINOGRAMS
OMIM:165550 OPTIC NERVE HYPOPLASIA, BILATERAL
OMIM:165590 OROFACIODIGITAL SYNDROME X; OFD10
OMIM:165600 ORBITAL MARGIN, HYPOPLASIA OF
OMIM:165660 OSLAM SYNDROME
OMIM:165670 OSSIFIED EAR CARTILAGES
OMIM:165680 OSSICULAR MALFORMATIONS, FAMILIAL
OMIM:165700 THIEMANN DISEASE
OMIM:165720 OSTEOARTHRITIS SUSCEPTIBILITY 1; OS1
OMIM:165800 OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS;
OMIM:166000 ENCHONDROMATOSIS, MULTIPLE, OLLIER TYPE
OMIM:166200 OSTEOGENESIS IMPERFECTA, TYPE I
OMIM:166210 OSTEOGENESIS IMPERFECTA, TYPE II
OMIM:166220 OSTEOGENESIS IMPERFECTA, TYPE IV
OMIM:166230 OSTEOGENESIS IMPERFECTA WITH OPALESCENT TEETH, BLUE SCLERAE AND WORMIAN
OMIM:166250 OSTEOGLOPHONIC DYSPLASIA; OGD
OMIM:166260 GNATHODIAPHYSEAL DYSPLASIA; GDD
OMIM:166300 MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; MCTO
OMIM:166350 OSSEOUS HETEROPLASIA, PROGRESSIVE; POH
OMIM:166400 OSTEOMAS OF MANDIBLE
OMIM:166450 OSTEOMESOPYKNOSIS
OMIM:166600 OSTEOPETROSIS, AUTOSOMAL DOMINANT 2; OPTA2
OMIM:166700 BUSCHKE-OLLENDORFF SYNDROME; BOS
OMIM:166705 OSTEOPOIKILOSIS AND DACRYOCYSTITIS
OMIM:166710 OSTEOPOROSIS
OMIM:166740 OSTEOSCLEROSIS WITH ICHTHYOSIS AND FRACTURES
OMIM:166750 OTODENTAL DYSPLASIA
OMIM:166760 OTITIS MEDIA, SUSCEPTIBILITY TO
OMIM:166780 OTOFACIOCERVICAL SYNDROME
OMIM:166800 OTOSCLEROSIS 1; OTSC1
OMIM:166900 OVALOCYTOSIS, HEREDITARY HEMOLYTIC
OMIM:166910 OVALOCYTOSIS, HEREDITARY HEMOLYTIC, WITH DEFECTIVE ERYTHROPOIESIS
OMIM:166950 TERATOMA, OVARIAN
OMIM:166970 OVARIAN FIBROMATA
OMIM:166990 OSTEOCHONDRODYSPLASIA, RHIZOMELIC, WITH CALLOSAL AGENESIS, THROMBOCYTOPENIA,
OMIM:167000 OVARIAN CANCER
OMIM:167030 NEPHROLITHIASIS, CALCIUM OXALATE
OMIM:167100 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT; PHOAD
OMIM:167200 PACHYONYCHIA CONGENITA, TYPE 1; PC1
OMIM:167210 PACHYONYCHIA CONGENITA, TYPE 2; PC2
OMIM:167220 PACMAN DYSPLASIA
OMIM:167250 PAGET DISEASE OF BONE 1; PDB1
OMIM:167300 PAGET DISEASE, EXTRAMAMMARY
OMIM:167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL
OMIM:167400 PAROXYSMAL EXTREME PAIN DISORDER
OMIM:167500 PALATOPHARYNGEAL INCOMPETENCE
OMIM:167730 PALPEBRAL COLOBOMA-LIPOMA SYNDROME
OMIM:167750 PANCREAS, ANNULAR
OMIM:167755 PANCREAS, DORSAL, AGENESIS OF
OMIM:167800 PANCREATITIS, HEREDITARY; PCTT
OMIM:167850 PANCYTOPENIA AND OCCLUSIVE VASCULAR DISEASE
OMIM:167870 PANIC DISORDER 1; PAND1
OMIM:167900 PAPILLOMATOSIS, CONFLUENT AND RETICULATED; CARP
OMIM:167950 PAPILLOMATOSIS, FLORID, OF NIPPLE
OMIM:168000 PARAGANGLIOMAS 1; PGL1
OMIM:168100 PARALYSIS AGITANS, JUVENILE, OF HUNT
OMIM:168200 PARAMOLAR TUBERCLE OF BOLK
OMIM:168300 PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC
OMIM:168400 PARASTREMMATIC DWARFISM
OMIM:168500 PARIETAL FORAMINA; PFM
OMIM:168550 PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA; PFMCCD
OMIM:168600 PARKINSON DISEASE, LATE-ONSET; PD
OMIM:168601 PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1
OMIM:168605 PERRY SYNDROME
OMIM:168800 PAROTIDOMEGALY, HEREDITARY BILATERAL
OMIM:168830 PASSOVOY FACTOR DEFECT
OMIM:168850 PATELLA APLASIA, COXA VARA, AND TARSAL SYNOSTOSIS
OMIM:168860 PATELLA APLASIA-HYPOPLASIA; PTLAH
OMIM:168885 PAROXYSMAL TONIC UPGAZE, BENIGN CHILDHOOD, WITH ATAXIA
OMIM:168900 PATELLA, CHONDROMALACIA OF
OMIM:169000 PATELLA, FAMILIAL RECURRENT DISLOCATION OF
OMIM:169100 CHAR SYNDROME
OMIM:169150 PATTERNED DYSTROPHY OF RETINAL PIGMENT EPITHELIUM
OMIM:169170 PATTERSON PSEUDOLEPRECHAUNISM SYNDROME
OMIM:169200 PECHET FACTOR DEFICIENCY
OMIM:169300 PECTUS EXCAVATUM
OMIM:169400 PELGER-HUET ANOMALY; PHA
OMIM:169500 LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT; ADLD
OMIM:169545 PELVIC LIPOMATOSIS WITH CROSSED RENAL ECTOPIA
OMIM:169550 PELVIS-SHOULDER DYSPLASIA
OMIM:169600 BENIGN CHRONIC PEMPHIGUS; BCPM
OMIM:169610 PEMPHIGUS VULGARIS, FAMILIAL
OMIM:170100 PROLIDASE DEFICIENCY
OMIM:170390 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
OMIM:170400 HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1; HOKPP1
OMIM:170500 HYPERKALEMIC PERIODIC PARALYSIS; HYPP
OMIM:170600 NORMOKALEMIC PERIODIC PARALYSIS
OMIM:170650 PERIODONTITIS, AGGRESSIVE, 1
OMIM:170700 PERIPHERAL DYSOSTOSIS
OMIM:170900 PERNICIOUS ANEMIA
OMIM:171000 PEYRONIE DISEASE
OMIM:171200 THIOUREA TASTING
OMIM:171300 PHEOCHROMOCYTOMA
OMIM:171400 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A
OMIM:171420 PHEOCHROMOCYTOMA--ISLET CELL TUMOR SYNDROME
OMIM:171450 PHLEBECTASIA OF LIPS
OMIM:171480 PHOCOMELIA-ECTRODACTYLY, EAR MALFORMATION, DEAFNESS, AND SINUS ARRHYTHMIA
OMIM:172150 6-@PHOSPHOGLUCONOLACTONASE DEFICIENCY
OMIM:172500 PHOTOMYOCLONUS, DIABETES MELLITUS, DEAFNESS, NEPHROPATHY, AND CEREBRAL
OMIM:172700 PICK DISEASE OF BRAIN
OMIM:172800 PIEBALD TRAIT; PBT
OMIM:172850 PIEBALD TRAIT WITH NEUROLOGIC DEFECTS
OMIM:172870 PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY; PPCRA
OMIM:172880 PIERRE ROBIN SYNDROME AND OLIGODACTYLY
OMIM:172900 PIGMENTED PURPURIC ERUPTION
OMIM:173000 PILONIDAL SINUS
OMIM:173100 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II; IGHD2
OMIM:173200 PITYRIASIS RUBRA PILARIS; PRP
OMIM:173400 PLATELET AGGREGATION, SPONTANEOUS
OMIM:173420 PLATELET DISORDER, UNDEFINED
OMIM:173450 PLATELET FACTOR 3 DEFICIENCY
OMIM:173580 PLATELET RESPONSIVENESS TO ADRENALINE, DEPRESSED
OMIM:173590 PLATELET SIGNAL PROCESSING DEFECT
OMIM:173600 PNEUMOTHORAX, PRIMARY SPONTANEOUS
OMIM:173650 KINDLER SYNDROME
OMIM:173700 POIKILODERMA, HEREDITARY SCLEROSING
OMIM:173800 POLAND SYNDROME
OMIM:173900 POLYCYSTIC KIDNEY DISEASE 1; PKD1
OMIM:174000 MEDULLARY CYSTIC KIDNEY DISEASE 1; MCKD1
OMIM:174050 POLYCYSTIC LIVER DISEASE; PCLD
OMIM:174200 POLYDACTYLY, POSTAXIAL, TYPE A1; PAPA1
OMIM:174300 OROFACIODIGITAL SYNDROME V; OFD5
OMIM:174310 POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA
OMIM:174400 POLYDACTYLY, PREAXIAL I
OMIM:174500 POLYDACTYLY, PREAXIAL II; PPD2
OMIM:174600 POLYDACTYLY, PREAXIAL III
OMIM:174700 POLYDACTYLY, PREAXIAL IV
OMIM:174770 ACTINIC PRURIGO
OMIM:174800 MCCUNE-ALBRIGHT SYNDROME; MAS
OMIM:174810 FAMILIAL EXPANSILE OSTEOLYSIS; FEO
OMIM:174900 JUVENILE POLYPOSIS SYNDROME; JPS
OMIM:175020 POLYPOSIS, GASTRIC
OMIM:175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME;
OMIM:175100 FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1
OMIM:175200 PEUTZ-JEGHERS SYNDROME; PJS
OMIM:175400 POLYPOSIS, INTESTINAL, SCATTERED AND DISCRETE
OMIM:175450 POLYPOSIS, INTESTINAL, WITH MULTIPLE EXOSTOSES
OMIM:175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES
OMIM:175505 POLYPOSIS OF GASTRIC FUNDUS WITHOUT POLYPOSIS COLI
OMIM:175510 POLYPS, MULTIPLE AND RECURRENT INFLAMMATORY FIBROID, GASTROINTESTINAL
OMIM:175690 POLYSYNDACTYLY, CROSSED
OMIM:175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS
OMIM:175750 POPLITEAL CYST
OMIM:175780 PORENCEPHALY 1; POREN1
OMIM:175800 POROKERATOSIS 1, MIBELLI TYPE; POROK1
OMIM:175850 POROKERATOSIS 2, PALMAR, PLANTAR, AND DISSEMINATED TYPE; POROK2
OMIM:175860 KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE II; PPKP2
OMIM:175900 POROKERATOSIS 3, DISSEMINATED SUPERFICIAL ACTINIC TYPE; POROK3
OMIM:176000 PORPHYRIA, ACUTE INTERMITTENT
OMIM:176090 PORPHYRIA CUTANEA TARDA, TYPE I
OMIM:176100 PORPHYRIA CUTANEA TARDA
OMIM:176200 PORPHYRIA VARIEGATA
OMIM:176240 POSTAXIAL OLIGODACTYLY, TETRAMELIC
OMIM:176250 POSTERIOR COLUMN ATAXIA
OMIM:176270 PRADER-WILLI SYNDROME; PWS
OMIM:176305 PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS
OMIM:176400 PRECOCIOUS PUBERTY, CENTRAL
OMIM:176410 PRECOCIOUS PUBERTY, MALE-LIMITED
OMIM:176430 PREMATURE CHROMATID SEPARATION TRAIT; PCS
OMIM:176450 CURRARINO SYNDROME
OMIM:176500 CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1
OMIM:176600 PRESENILE DEMENTIA, KRAEPELIN TYPE
OMIM:176620 PRIAPISM, FAMILIAL IDIOPATHIC
OMIM:176630 PRIMARY RELEASE DISORDER OF PLATELETS
OMIM:176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
OMIM:176690 PROGEROID SHORT STATURE WITH PIGMENTED NEVI
OMIM:176700 PROGNATHISM, MANDIBULAR
OMIM:176780 PELVIC ORGAN PROLAPSE, SUSCEPTIBILITY TO
OMIM:176800 PRONATION-SUPINATION OF THE FOREARM, IMPAIRMENT OF
OMIM:176807 PROSTATE CANCER
OMIM:176860 THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT; THPH3
OMIM:176920 PROTEUS SYNDROME
OMIM:177000 PROTOPORPHYRIA, ERYTHROPOIETIC; EPP
OMIM:177050 PROTRUSIO ACETABULI
OMIM:177100 PRURITUS, HEREDITARY LOCALIZED
OMIM:177170 PSEUDOACHONDROPLASIA; PSACH
OMIM:177200 LIDDLE SYNDROME
OMIM:177300 PSEUDOARTHROGRYPOSIS
OMIM:177350 PSEUDOATROPHODERMA COLLI
OMIM:177650 EXFOLIATION SYNDROME; XFS
OMIM:177700 PSEUDOGLAUCOMA
OMIM:177720 PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK
OMIM:177735 PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT; PHA1A
OMIM:177820 PSEUDO-VON WILLEBRAND DISEASE; VWDP
OMIM:177850 PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE
OMIM:177900 PSORIASIS SUSCEPTIBILITY 1; PSORS1
OMIM:177980 PTERYGIA, MENTAL RETARDATION, AND DISTINCTIVE CRANIOFACIAL FEATURES
OMIM:177990 PTERYGIUM COLLI, ISOLATED
OMIM:178000 PTERYGIUM OF CONJUNCTIVA AND CORNEA
OMIM:178110 ARTHROGRYPOSIS, DISTAL, TYPE 8; DA8
OMIM:178200 PTERYGIUM, ANTECUBITAL
OMIM:178300 PTOSIS, HEREDITARY CONGENITAL 1; PTOS1
OMIM:178330 PTOSIS, STRABISMUS, AND ECTOPIC PUPILS
OMIM:178370 PULMONARY ATRESIA WITH VENTRICULAR SEPTAL DEFECT
OMIM:178400 PULMONARY EDEMA OF MOUNTAINEERS
OMIM:178500 PULMONARY FIBROSIS, IDIOPATHIC; IPF
OMIM:178550 PULMONARY HEMOSIDEROSIS
OMIM:178600 PULMONARY HYPERTENSION, PRIMARY, 1; PPH1
OMIM:178610 PULMONARY NODULAR LYMPHOID HYPERPLASIA, FAMILIAL
OMIM:178650 PULMONIC STENOSIS, ATRIAL SEPTAL DEFECT, AND UNIQUE ELECTROCARDIOGRAPHIC
OMIM:178651 PULMONIC STENOSIS AND DEAFNESS
OMIM:178800 PUPIL, EGG-SHAPED
OMIM:178900 PUPILLARY MEMBRANE, PERSISTENCE OF
OMIM:178995 PRURITIC URTICARIAL PAPULES AND PLAQUES OF PREGNANCY; PUPPP
OMIM:179000 PURPURA SIMPLEX
OMIM:179010 PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 1; IHPS1
OMIM:179200 RADIAL HEADS, POSTERIOR DISLOCATION OF
OMIM:179250 RADIAL HYPOPLASIA, TRIPHALANGEAL THUMBS, HYPOSPADIAS, AND MAXILLARY
OMIM:179270 RADIAL RAY HYPOPLASIA WITH CHOANAL ATRESIA
OMIM:179280 RADIAL-RENAL SYNDROME
OMIM:179300 RADIOULNAR SYNOSTOSIS
OMIM:179400 RADIUS, APLASIA OF, WITH CLEFT LIP/PALATE
OMIM:179450 RAGWEED SENSITIVITY
OMIM:179500 RAINDROP HYPOPIGMENTATION
OMIM:179613 RECOMBINANT CHROMOSOME 8 SYNDROME
OMIM:179650 RED CELL PERMEABILITY DEFECT
OMIM:179700 RED CELL PHOSPHOLIPID DEFECT WITH HEMOLYSIS
OMIM:179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT
OMIM:179830 RENAL TUBULAR ACIDOSIS, PROXIMAL
OMIM:179840 RETICULAR DYSTROPHY OF RETINAL PIGMENT EPITHELIUM
OMIM:179850 DOWLING-DEGOS DISEASE; DDD
OMIM:179900 RETINAL APLASIA
OMIM:180000 RETINAL ARTERIES, TORTUOSITY OF
OMIM:180020 RETINAL CONE DYSTROPHY 1; RCD1
OMIM:180050 RETINAL DETACHMENT
OMIM:180070 RETINAL NONATTACHMENT AND FALCIFORM DETACHMENT
OMIM:180080 RETINAL VENOUS BEADING
OMIM:180100 RETINITIS PIGMENTOSA 1; RP1
OMIM:180104 RETINITIS PIGMENTOSA 9; RP9
OMIM:180105 RETINITIS PIGMENTOSA 10; RP10
OMIM:180200 RETINOBLASTOMA; RB1
OMIM:180210 RETINOPATHY, PERICENTRAL PIGMENTARY, DOMINANT
OMIM:180270 RETINOSCHISIS, AUTOSOMAL DOMINANT
OMIM:180300 RHEUMATOID ARTHRITIS; RA
OMIM:180350 RHEUMATOID NODULOSIS
OMIM:180360 RHINY
OMIM:180500 AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1
OMIM:180550 RING DERMOID OF CORNEA; RDC
OMIM:180600 RINGED HAIR
OMIM:180700 ROBINOW SYNDROME, AUTOSOMAL DOMINANT; DRS
OMIM:180730 ROMBO SYNDROME
OMIM:180750 ROBINOW-SORAUF SYNDROME
OMIM:180800 ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA
OMIM:180849 RUBINSTEIN-TAYBI SYNDROME 1; RSTS1
OMIM:180860 SILVER-RUSSELL SYNDROME; SRS
OMIM:180870 RUVALCABA SYNDROME
OMIM:180900 RUTHERFURD SYNDROME
OMIM:180920 APLASIA OF LACRIMAL AND SALIVARY GLANDS; ALSG
OMIM:181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1; SS1
OMIM:181010 SALIVARY DUCT CALCULI
OMIM:181030 SALIVARY GLAND ADENOMA, PLEOMORPHIC
OMIM:181180 SAY SYNDROME
OMIM:181250 SCALP DEFECTS AND POSTAXIAL POLYDACTYLY
OMIM:181270 SCALP-EAR-NIPPLE SYNDROME
OMIM:181350 EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT; EDMD2
OMIM:181400 SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE; SCPNK
OMIM:181405 SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY; SPSMA
OMIM:181430 SCAPULOPERONEAL MYOPATHY, MYH7-RELATED; SPMM
OMIM:181440 SCHEUERMANN DISEASE
OMIM:181450 ULNAR-MAMMARY SYNDROME; UMS
OMIM:181460 SCHISTOSOMA MANSONI INFECTION, SUSCEPTIBILITY/RESISTANCE TO
OMIM:181500 SCHIZOPHRENIA; SCZD
OMIM:181510 SCHIZOPHRENIA 1; SCZD1
OMIM:181515 SCHOLTE SYNDROME
OMIM:181600 SCLEROTYLOSIS
OMIM:181700 SCLEROCORNEA, AUTOSOMAL DOMINANT
OMIM:181750 SCLERODERMA, FAMILIAL PROGRESSIVE
OMIM:181800 SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 1; IS1
OMIM:182000 KERATOSIS, SEBORRHEIC
OMIM:182150 SIMOSA CRANIOFACIAL SYNDROME
OMIM:182170 ANEMIA, SIDEROBLASTIC, AUTOSOMAL DOMINANT
OMIM:182190 SINUS NODE DISEASE AND MYOPIA
OMIM:182200 SELLA TURCICA, BRIDGED
OMIM:182210 SHPRINTZEN OMPHALOCELE SYNDROME
OMIM:182212 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; SGS
OMIM:182230 SEPTOOPTIC DYSPLASIA
OMIM:182250 SINGLETON-MERTEN SYNDROME
OMIM:182255 SKELETAL DYSPLASIA WITH DELAYED EPIPHYSEAL AND CARPAL BONE OSSIFICATION
OMIM:182260 SLIPPED FEMORAL CAPITAL EPIPHYSES
OMIM:182280 SMALL CELL CANCER OF THE LUNG
OMIM:182290 SMITH-MAGENIS SYNDROME; SMS
OMIM:182410 SNEDDON SYNDROME
OMIM:182600 SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A
OMIM:182601 SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4
OMIM:182610 SPASTIC PARAPLEGIA, EPILEPSY, AND MENTAL RETARDATION; SPEMR
OMIM:182690 SPASTIC PARAPLEGIA, SENSORINEURAL DEAFNESS, MENTAL RETARDATION, AND
OMIM:182800 SPASTIC PARAPLEGIA WITH ASSOCIATED EXTRAPYRAMIDAL SIGNS
OMIM:182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA
OMIM:182820 SPASTIC PARAPLEGIA WITH PRECOCIOUS PUBERTY
OMIM:182830 SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND DEMENTIA
OMIM:182875 SPEECH DEVELOPMENT, DELAYED, WITH FACIAL ASYMMETRY, STRABISMUS, AND
OMIM:182900 SPHEROCYTOSIS, TYPE 1; SPH1
OMIM:182920 MYOPATHY, SPHEROID BODY
OMIM:182940 NEURAL TUBE DEFECTS
OMIM:182950 SPINAL ARACHNOIDITIS
OMIM:182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I; HMN1
OMIM:182970 SPINAL MUSCULAR ATROPHY, FACIOSCAPULOHUMERAL TYPE
OMIM:182980 SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE; SMAFK
OMIM:182990 SPINAL INTRADURAL ARACHNOID CYSTS
OMIM:183020 SPINAL MUSCULAR ATROPHY, SEGMENTAL
OMIM:183050 SPINOCEREBELLAR ATAXIA WITH RIGIDITY AND PERIPHERAL NEUROPATHY
OMIM:183086 SPINOCEREBELLAR ATAXIA 6; SCA6
OMIM:183090 SPINOCEREBELLAR ATAXIA 2; SCA2
OMIM:183100 SPINOCEREBELLAR ATROPHY WITH PUPILLARY PARALYSIS
OMIM:183300 SPLENOGONADAL FUSION WITH LIMB DEFECTS AND MICROGNATHIA
OMIM:183350 SPLENOMEGALY SYNDROME WITH SPLENIC GERMINAL CENTER HYPOPLASIA AND
OMIM:183400 SPLIT LOWER LIP
OMIM:183500 SPLIT-HAND AND SPLIT-FOOT WITH HYPODONTIA
OMIM:183600 SPLIT-HAND/FOOT MALFORMATION 1; SHFM1
OMIM:183700 SPLIT-FOOT DEFORMITY WITH MANDIBULOFACIAL DYSOSTOSIS
OMIM:183800 SPLIT-HAND WITH CONGENITAL NYSTAGMUS, FUNDAL CHANGES, AND CATARACTS
OMIM:183802 SPLIT-HAND WITH OBSTRUCTIVE UROPATHY, SPINA BIFIDA, AND DIAPHRAGMATIC
OMIM:183840 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 2; SPDA2
OMIM:183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS
OMIM:183850 SPONDYLOEPIPHYSEAL DYSPLASIA WITH PUNCTATE CORNEAL DYSTROPHY
OMIM:183900 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC
OMIM:184000 SPONDYLOEPIPHYSEAL DYSPLASIA, MYOPIA, AND SENSORINEURAL DEAFNESS
OMIM:184095 SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
OMIM:184100 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL DOMINANT
OMIM:184200 SPONDYLOLISTHESIS
OMIM:184250 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE; SEMDSTWK
OMIM:184252 SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE; SMDK
OMIM:184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE
OMIM:184255 SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE
OMIM:184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA
OMIM:184300 SPONDYLOSIS, CERVICAL
OMIM:184400 SPRENGEL DEFORMITY
OMIM:184450 STUTTERING, FAMILIAL PERSISTENT, 1; STUT1
OMIM:184460 STAPES ANKYLOSIS WITH BROAD THUMB AND TOES
OMIM:184500 STEATOCYSTOMA MULTIPLEX
OMIM:184510 STEATOCYSTOMA MULTIPLEX WITH NATAL TEETH
OMIM:184700 POLYCYSTIC OVARY SYNDROME 1; PCOS1
OMIM:184705 STEINFELD SYNDROME
OMIM:184800 STERNUM, PREMATURE OBLITERATION OF SUTURES OF
OMIM:184840 STICKLER SYNDROME, TYPE III; STL3
OMIM:184850 STIFF-PERSON SYNDROME; SPS
OMIM:184900 STIFF SKIN SYNDROME; SSKS
OMIM:185000 STOMATOCYTOSIS I
OMIM:185010 STOMATOCYTOSIS II
OMIM:185020 PSEUDOHYPERKALEMIA CARDIFF
OMIM:185050 STORAGE POOL PLATELET DISEASE
OMIM:185069 STORM SYNDROME
OMIM:185070 STORMORKEN SYNDROME
OMIM:185100 STRABISMUS, SUSCEPTIBILITY TO
OMIM:185120 STRATTON-PARKER SYNDROME
OMIM:185200 STRIAE DISTENSAE, FAMILIAL
OMIM:185300 STURGE-WEBER SYNDROME; SWS
OMIM:185460 SULFHEMOGLOBINEMIA, CONGENITAL
OMIM:185480 SUPRABULBAR PARESIS, CONGENITAL
OMIM:185500 SUPRAVALVULAR AORTIC STENOSIS; SVAS
OMIM:185600 SYMPHALANGISM OF TOES
OMIM:185650 SYMPHALANGISM, C. S. LEWIS TYPE
OMIM:185700 SYMPHALANGISM, DISTAL
OMIM:185750 SYMPHALANGISM WITH MULTIPLE ANOMALIES OF HANDS AND FEET
OMIM:185800 SYMPHALANGISM, PROXIMAL; SYM1
OMIM:185900 SYNDACTYLY, TYPE I
OMIM:186000 SYNPOLYDACTYLY 1; SPD1
OMIM:186100 SYNDACTYLY, TYPE III
OMIM:186200 SYNDACTYLY, TYPE IV
OMIM:186300 SYNDACTYLY, TYPE V
OMIM:186350 SYNDACTYLY-POLYDACTYLY-EARLOBE SYNDROME
OMIM:186400 SYNOSTOSES, TARSAL, CARPAL, AND DIGITAL
OMIM:186500 MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1
OMIM:186550 LIEBENBERG SYNDROME; LBNBG
OMIM:186570 TARSAL-CARPAL COALITION SYNDROME; TCC
OMIM:186575 SYNOVIAL CHONDROMATOSIS, FAMILIAL, WITH DWARFISM
OMIM:186580 BLAU SYNDROME
OMIM:186600 SYRINGOMAS, MULTIPLE
OMIM:186700 SYRINGOMYELIA, ISOLATED
OMIM:186750 TALONAVICULAR COALITION
OMIM:186850 TARSAL COALITION
OMIM:187000 TEETH, ODD SHAPES OF
OMIM:187050 TEETH PRESENT AT BIRTH
OMIM:187100 TEETH, SUPERNUMERARY
OMIM:187260 TELANGIECTASIA, HEREDITARY BENIGN
OMIM:187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER;
OMIM:187350 TELECANTHUS
OMIM:187360 TEMPORAL ARTERITIS
OMIM:187370 ARTHROGRYPOSIS, DISTAL, TYPE 10; DA10
OMIM:187390 TENDONS, EXTENSOR, OF FINGERS, ANOMALOUS INSERTION OF
OMIM:187400 TESTICULAR TORSION
OMIM:187500 TETRALOGY OF FALLOT; TOF
OMIM:187501 TETRALOGY OF FALLOT AND GLAUCOMA
OMIM:187510 TETRAMELIC MONODACTYLY
OMIM:187550 THALASSEMIA, BETA+, SILENT ALLELE
OMIM:187600 THANATOPHORIC DYSPLASIA, TYPE I; TD1
OMIM:187601 THANATOPHORIC DYSPLASIA, TYPE II; TD2
OMIM:187750 THORACIC DYSOSTOSIS, ISOLATED
OMIM:187760 THORACOLARYNGOPELVIC DYSPLASIA; TLPD
OMIM:187770 THORACOPELVIC DYSOSTOSIS
OMIM:187800 GLANZMANN THROMBASTHENIA, AUTOSOMAL DOMINANT
OMIM:187900 THROMBASTHENIA-THROMBOCYTOPENIA, HEREDITARY
OMIM:187950 THROMBOCYTHEMIA 1; THCYT1
OMIM:188000 THROMBOCYTOPENIA 2; THC2
OMIM:188020 THROMBOCYTOPENIA, CYCLIC
OMIM:188025 THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT
OMIM:188030 THROMBOCYTOPENIC PURPURA, AUTOIMMUNE; AITP
OMIM:188050 THROMBOPHILIA DUE TO THROMBIN DEFECT; THPH1
OMIM:188055 THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE; THPH2
OMIM:188100 THUMB DEFORMITY
OMIM:188150 THUMB DEFORMITY AND ALOPECIA
OMIM:188201 THUMBS, STIFF, WITH BRACHYDACTYLY TYPE A1 AND DEVELOPMENTAL DELAY
OMIM:188400 DIGEORGE SYNDROME; DGS
OMIM:188470 THYROID CARCINOMA, FOLLICULAR; FTC
OMIM:188550 THYROID CARCINOMA, PAPILLARY
OMIM:188560 THYROID HORMONE PLASMA MEMBRANE TRANSPORT DEFECT
OMIM:188570 THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; GRTH
OMIM:188580 THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1; TTPP1
OMIM:188700 BLOUNT DISEASE, INFANTILE
OMIM:188740 TIBIA, ABSENCE OF, WITH POLYDACTYLY
OMIM:188770 TIBIA, HYPOPLASIA OF, WITH POLYDACTYLY
OMIM:188800 TIBIAL TORSION, BILATERAL MEDIAL
OMIM:189150 TOE, ROTATED FIFTH
OMIM:189230 TOES, SPACE BETWEEN FIRST AND SECOND
OMIM:189300 TONGUE CURLING, FOLDING, OR ROLLING
OMIM:189490 MALPOSITION OF TEETH WITH OR WITHOUT HYPODONTIA/OLIGODONTIA
OMIM:189500 WITKOP SYNDROME
OMIM:189600 TORTICOLLIS
OMIM:189700 TORUS PALATINUS AND TORUS MANDIBULARIS
OMIM:189800 PREECLAMPSIA/ECLAMPSIA 1; PEE1
OMIM:189960 TRACHEOESOPHAGEAL FISTULA WITH OR WITHOUT ESOPHAGEAL ATRESIA
OMIM:189961 TRACHEOPATHIA OSTEOPLASTICA
OMIM:190100 GENIOSPASM 1; GSM1
OMIM:190200 TREMOR OF INTENTION, ATAXIA, AND LIPOFUSCINOSIS
OMIM:190300 TREMOR, HEREDITARY ESSENTIAL, 1; ETM1
OMIM:190310 TREMOR, NYSTAGMUS, AND DUODENAL ULCER
OMIM:190320 TRICHODENTOOSSEOUS SYNDROME
OMIM:190330 TRICHOMEGALY
OMIM:190340 DISCOID FIBROMAS, FAMILIAL MULTIPLE; FMDF
OMIM:190345 TRICHOEPITHELIOMAS, MULTIPLE DESMOPLASTIC
OMIM:190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1
OMIM:190351 TRICHORHINOPHALANGEAL SYNDROME, TYPE III; TRPS3
OMIM:190360 TRICHODYSPLASIA-XERODERMA
OMIM:190400 TRIGEMINAL NEURALGIA
OMIM:190410 TRIGGER THUMB
OMIM:190420 TRIGLYCERIDE STORAGE DISEASE, TYPE I
OMIM:190430 TRIGLYCERIDE STORAGE DISEASE, TYPE II
OMIM:190440 TRIGONOCEPHALY 1; TRIGNO1
OMIM:190500 TRIPHALANGEAL THUMB WITH DOUBLE PHALANGES
OMIM:190600 TRIPHALANGEAL THUMB, NONOPPOSABLE
OMIM:190650 TRIPHALANGEAL THUMBS AND DISLOCATION OF PATELLA
OMIM:190680 TRIPHALANGEAL THUMBS WITH BRACHYECTRODACTYLY
OMIM:190685 DOWN SYNDROME
OMIM:190800 TRISTICHIASIS
OMIM:190900 TRITANOPIA
OMIM:191000 TROCHLEA OF THE HUMERUS, APLASIA OF
OMIM:191100 TUBEROUS SCLEROSIS 1; TSC1
OMIM:191150 TUFTSIN DEFICIENCY
OMIM:191200 TUNE DEAFNESS
OMIM:191390 INFLAMMATORY BOWEL DISEASE 11; IBD11
OMIM:191400 ULNA AND FIBULA, HYPOPLASIA OF
OMIM:191420 ULNA METAPHYSEAL DYSPLASIA SYNDROME
OMIM:191440 ULNAR HYPOPLASIA
OMIM:191480 UNCOMBABLE HAIR SYNDROME
OMIM:191482 UNCOMBABLE HAIR, RETINAL PIGMENTARY DYSTROPHY, DENTAL ANOMALIES, AND
OMIM:191500 UNDRITZ ANOMALY
OMIM:191520 UPINGTON DISEASE
OMIM:191540 URATE OXIDASE, PSEUDOGENE; UOX
OMIM:191550 URETER, BIFID OR DOUBLE
OMIM:191600 URETER, CANCER OF
OMIM:191650 URETEROCELE
OMIM:191700 UROLITHIASIS, URIC ACID, AUTOSOMAL DOMINANT
OMIM:191800 URINARY BLADDER, ATONY OF
OMIM:191830 RENAL ADYSPLASIA
OMIM:191850 URTICARIA, AQUAGENIC
OMIM:191900 MUCKLE-WELLS SYNDROME; MWS
OMIM:191950 URTICARIA, FAMILIAL LOCALIZED HEAT
OMIM:192000 UTERINE ANOMALIES
OMIM:192050 UTERUS BICORNIS BICOLLIS WITH PARTIAL VAGINAL SEPTUM AND UNILATERAL
OMIM:192100 UVULA, BIFID
OMIM:192200 VARICOSE VEINS
OMIM:192310 VASCULITIS, LYMPHOCYTIC, NODULAR
OMIM:192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL
OMIM:192350 VATER ASSOCIATION
OMIM:192430 VELOCARDIOFACIAL SYNDROME
OMIM:192445 VENTRICULAR EXTRASYSTOLES WITH SYNCOPE, PERODACTYLY, AND ROBIN SEQUENCE
OMIM:192500 LONG QT SYNDROME 1; LQT1
OMIM:192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1
OMIM:192605 VENTRICULAR TACHYCARDIA, FAMILIAL
OMIM:192700 VENULAR INSUFFICIENCY, SYSTEMIC
OMIM:192800 VERTEBRAL FUSION, POSTERIOR LUMBOSACRAL, WITH BLEPHAROPTOSIS
OMIM:192900 VERTEBRAL HYPOPLASIA WITH LUMBAR KYPHOSIS
OMIM:192950 VERTICAL TALUS, CONGENITAL; CVT
OMIM:193000 VESICOURETERAL REFLUX 1; VUR1
OMIM:193003 NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT; NYS4
OMIM:193005 VESTIBULOCOCHLEAR DYSFUNCTION, PROGRESSIVE
OMIM:193007 VERTIGO, BENIGN RECURRENT; BRV
OMIM:193050 VIBRATORY ANGIOEDEMA
OMIM:193090 TRANSCOBALAMIN I DEFICIENCY
OMIM:193100 HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR
OMIM:193200 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6;
OMIM:193220 VITREORETINOCHOROIDOPATHY; VRCP
OMIM:193230 VITREORETINAL DEGENERATION, SNOWFLAKE TYPE; SVD
OMIM:193235 VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY; VRNI
OMIM:193240 VOCAL CORD PARALYSIS AND PTOSIS
OMIM:193250 VOLVULUS OF MIDGUT
OMIM:193300 VON HIPPEL-LINDAU SYNDROME; VHL
OMIM:193400 VON WILLEBRAND DISEASE, TYPE 1; VWD1
OMIM:193450 VULVOVAGINITIS, ALLERGIC SEMINAL
OMIM:193500 WAARDENBURG SYNDROME, TYPE 1; WS1
OMIM:193510 WAARDENBURG SYNDROME, TYPE 2A; WS2A
OMIM:193520 WATSON SYNDROME
OMIM:193530 WEYERS ACROFACIAL DYSOSTOSIS
OMIM:193670 WHIM SYNDROME
OMIM:193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A
OMIM:193900 WHITE SPONGE NEVUS; WSN
OMIM:194000 WIDOW'S PEAK
OMIM:194050 WILLIAMS-BEUREN SYNDROME; WBS
OMIM:194070 WILMS TUMOR 1; WT1
OMIM:194071 WILMS TUMOR 2; WT2
OMIM:194072 WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION
OMIM:194080 DENYS-DRASH SYNDROME; DDS
OMIM:194090 WILMS TUMOR 3; WT3
OMIM:194190 WOLF-HIRSCHHORN SYNDROME; WHS
OMIM:194200 WOLFF-PARKINSON-WHITE SYNDROME
OMIM:194300 WOOLLY HAIR, AUTOSOMAL DOMINANT; ADWH
OMIM:194320 WORONETS TRAIT
OMIM:194350 WT LIMB-BLOOD SYNDROME
OMIM:194380 DEHYDRATED HEREDITARY STOMATOCYTOSIS; DHS
OMIM:194400 XERODERMA PIGMENTOSUM, AUTOSOMAL DOMINANT, MILD
OMIM:200100 ABETALIPOPROTEINEMIA; ABL
OMIM:200110 ABLEPHARON-MACROSTOMIA SYNDROME
OMIM:200130 ABSENT EYEBROWS AND EYELASHES WITH MENTAL RETARDATION
OMIM:200150 CHOREOACANTHOCYTOSIS; CHAC
OMIM:200170 ACANTHOSIS NIGRICANS WITH MUSCLE CRAMPS AND ACRAL ENLARGEMENT
OMIM:200300 ACETOPHENETIDIN SENSITIVITY
OMIM:200400 ACHALASIA, FAMILIAL ESOPHAGEAL
OMIM:200450 ACHALASIA-MICROCEPHALY SYNDROME
OMIM:200500 ACHEIROPODY
OMIM:200600 ACHONDROGENESIS, TYPE IA; ACG1A
OMIM:200610 ACHONDROGENESIS, TYPE II; ACG2
OMIM:200700 CHONDRODYSPLASIA, GREBE TYPE
OMIM:200900 SHORT-LIMB SKELETAL DYSPLASIA WITH SEVERE COMBINED IMMUNODEFICIENCY
OMIM:200950 ACID PHOSPHATASE DEFICIENCY
OMIM:200970 ACKERMAN SYNDROME
OMIM:200980 ACRORENAL-MANDIBULAR SYNDROME
OMIM:200990 ACROCALLOSAL SYNDROME; ACLS
OMIM:200995 ACROCEPHALOPOLYDACTYLOUS DYSPLASIA
OMIM:201000 CARPENTER SYNDROME 1; CRPT1
OMIM:201020 ACROCEPHALOPOLYSYNDACTYLY TYPE IV
OMIM:201050 ACROCRANIOFACIAL DYSOSTOSIS
OMIM:201100 ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ
OMIM:201170 ACROFACIAL DYSOSTOSIS SYNDROME OF RODRIGUEZ
OMIM:201180 ACROFRONTOFACIONASAL DYSOSTOSIS 1
OMIM:201200 ACROGERIA, GOTTRON TYPE
OMIM:201250 ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE
OMIM:201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA; HSAN2A
OMIM:201310 ACRORENAL SYNDROME, AUTOSOMAL RECESSIVE
OMIM:201400 ACTH DEFICIENCY, ISOLATED; IAD
OMIM:201450 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD
OMIM:201470 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; ACADSD
OMIM:201475 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD
OMIM:201550 ADDUCTED THUMBS SYNDROME
OMIM:201710 LIPOID CONGENITAL ADRENAL HYPERPLASIA; LCAH
OMIM:201750 ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS;
OMIM:201810 3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF
OMIM:201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
OMIM:202010 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE
OMIM:202110 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY
OMIM:202150 ADRENAL HYPOPLASIA, CONGENITAL, WITH ABSENT PITUITARY LUTEINIZING
OMIM:202155 ADRENAL HYPOPLASIA, CYTOMEGALIC TYPE
OMIM:202200 GLUCOCORTICOID DEFICIENCY 1; GCCD1
OMIM:202300 ADRENOCORTICAL CARCINOMA, HEREDITARY; ADCC
OMIM:202355 ADRENOCORTICAL UNRESPONSIVENESS TO ACTH WITH POSTRECEPTOR DEFECT
OMIM:202370 PEROXISOME BIOGENESIS DISORDER 2B; PBD2B
OMIM:202400 AFIBRINOGENEMIA, CONGENITAL
OMIM:202550 AGANGLIONOSIS, TOTAL INTESTINAL
OMIM:202600 AGENESIS OF CEREBRAL WHITE MATTER
OMIM:202650 AGNATHIA-OTOCEPHALY COMPLEX; AGOTC
OMIM:202700 NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT; SCN1
OMIM:202900 ALANINURIA WITH MICROCEPHALY, DWARFISM, ENAMEL HYPOPLASIA, AND DIABETES
OMIM:203000 FRONTONASAL DYSPLASIA WITH ALAR CLEFTS
OMIM:203100 ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A
OMIM:203200 ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2
OMIM:203290 ALBINISM, OCULOCUTANEOUS, TYPE III; OCA3
OMIM:203300 HERMANSKY-PUDLAK SYNDROME 1; HPS1
OMIM:203330 PSEUDOHYPOPARATHYROIDISM, TYPE II; PHP2
OMIM:203340 ALBINISM-MICROCEPHALY-DIGITAL ANOMALIES SYNDROME
OMIM:203400 CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY
OMIM:203450 ALEXANDER DISEASE
OMIM:203500 ALKAPTONURIA
OMIM:203550 ALOPECIA-CONTRACTURES-DWARFISM MENTAL RETARDATION SYNDROME
OMIM:203600 ALOPECIA-EPILEPSY-OLIGOPHRENIA SYNDROME OF MOYNAHAN
OMIM:203650 ALOPECIA-MENTAL RETARDATION SYNDROME 1; APMR1
OMIM:203655 ALOPECIA UNIVERSALIS CONGENITA; ALUNC
OMIM:203700 MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE); MTDPS4A
OMIM:203740 ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY
OMIM:203750 ALPHA-METHYLACETOACETIC ACIDURIA
OMIM:203760 ALPHA-2-DEFICIENT COLLAGEN DISEASE
OMIM:203780 ALPORT SYNDROME, AUTOSOMAL RECESSIVE
OMIM:203800 ALSTROM SYNDROME; ALMS
OMIM:204000 LEBER CONGENITAL AMAUROSIS 1; LCA1
OMIM:204100 LEBER CONGENITAL AMAUROSIS 2; LCA2
OMIM:204110 AMAUROSIS CONGENITA, CONE-ROD TYPE, WITH CONGENITAL HYPERTRICHOSIS
OMIM:204200 CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3
OMIM:204300 CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE; CLN4A
OMIM:204500 CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2
OMIM:204650 AMELOGENESIS IMPERFECTA, TYPE IC; AI1C
OMIM:204690 ENAMEL-RENAL SYNDROME; ERS
OMIM:204700 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA1; AI2A1
OMIM:204730 AMINO ACIDURIA WITH MENTAL DEFICIENCY, DWARFISM, MUSCULAR DYSTROPHY,
OMIM:204750 2-@AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD
OMIM:204850 AMYLOIDOSIS OF GINGIVA AND CONJUNCTIVA, WITH MENTAL RETARDATION
OMIM:204870 CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE; GDLD
OMIM:204900 AMYLOIDOSIS, CUTANEOUS BULLOUS
OMIM:205000 AMYOTONIA CONGENITA
OMIM:205100 AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2
OMIM:205200 AMYOTROPHIC LATERAL SCLEROSIS, JUVENILE, WITH DEMENTIA
OMIM:205250 AMYOTROPHIC LATERAL SCLEROSIS WITH POLYGLUCOSAN BODIES
OMIM:205400 TANGIER DISEASE; TGD
OMIM:205700 ANEMIA, AUTOIMMUNE HEMOLYTIC
OMIM:205950 ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE
OMIM:206000 ANEMIA, SIDEROBLASTIC, PYRIDOXINE-RESPONSIVE, AUTOSOMAL RECESSIVE
OMIM:206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD
OMIM:206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA
OMIM:206300 ANEMIA, NONSPHEROCYTIC HEMOLYTIC, ASSOCIATED WITH ABNORMALITY OF RED
OMIM:206400 ANEMIA, NONSPHEROCYTIC HEMOLYTIC, POSSIBLY DUE TO DEFECT IN PORPHYRIN
OMIM:206500 ANENCEPHALY
OMIM:206550 ANGIOLIPOMATOSIS, FAMILIAL
OMIM:206570 ANGIOMATOSIS, DIFFUSE CORTICOMENINGEAL, OF DIVRY AND VAN BOGAERT
OMIM:206600 ANHIDROSIS
OMIM:206700 ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL RETARDATION
OMIM:206750 ANIRIDIA, PARTIAL, WITH UNILATERAL RENAL AGENESIS AND PSYCHOMOTOR
OMIM:206780 ANODONTIA OF PERMANENT DENTITION
OMIM:206800 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4; NDNC4
OMIM:206900 MICROPHTHALMIA, SYNDROMIC 3; MCOPS3
OMIM:206920 MICROPHTHALMIA WITH LIMB ANOMALIES
OMIM:207000 ANOSMIA FOR ISOBUTYRIC ACID
OMIM:207300 ANTITHROMBIN, FAMILIAL HEMORRHAGIC DIATHESIS DUE TO
OMIM:207410 ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS;
OMIM:207500 ANUS, IMPERFORATE
OMIM:207600 TAKAYASU ARTERITIS
OMIM:207620 APHALANGY WITH HEMIVERTEBRAE
OMIM:207720 APNEA, CENTRAL SLEEP
OMIM:207731 APLASIA CUTIS CONGENITA WITH INTESTINAL LYMPHANGIECTASIA
OMIM:207740 APLASIA OF EXTENSOR MUSCLES OF FINGERS, UNILATERAL, WITH GENERALIZED
OMIM:207750 APOLIPOPROTEIN C-II DEFICIENCY
OMIM:207770 APROSENCEPHALY SYNDROME
OMIM:207780 AREDYLD
OMIM:207790 ARACHNOID CYSTS, INTRACRANIAL
OMIM:207800 ARGININEMIA
OMIM:207900 ARGININOSUCCINIC ACIDURIA
OMIM:207950 CHIARI MALFORMATION TYPE II
OMIM:208000 ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1
OMIM:208050 ARTERIAL TORTUOSITY SYNDROME; ATS
OMIM:208060 ARTERIOSCLEROSIS, SEVERE JUVENILE
OMIM:208080 ARTHROGRYPOSIS, DISTAL, WITH HYPOPITUITARISM, MENTAL RETARDATION,
OMIM:208081 ARTHROGRYPOSIS, DISTAL, WITH MENTAL RETARDATION AND CHARACTERISTIC
OMIM:208085 ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1; ARCS1
OMIM:208100 ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC TYPE; AMCN
OMIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE; FADS
OMIM:208155 ILLUM SYNDROME
OMIM:208158 ARTHROGRYPOSIS WITH HYPERKERATOSIS
OMIM:208200 ARTHROGRYPOSIS-LIKE DISORDER
OMIM:208230 ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD; PPAC
OMIM:208250 CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME; CACP
OMIM:208300 ASCITES, CHYLOUS
OMIM:208400 ASPARTYLGLUCOSAMINURIA; AGU
OMIM:208500 ASPHYXIATING THORACIC DYSTROPHY 1; ATD1
OMIM:208530 ASPLENIA WITH CARDIOVASCULAR ANOMALIES
OMIM:208540 RENAL-HEPATIC-PANCREATIC DYSPLASIA; RHPD
OMIM:208550 ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE
OMIM:208600 ASTHMA, SHORT STATURE, AND ELEVATED IgA
OMIM:208700 ATAXIA WITH MYOCLONIC EPILEPSY AND PRESENILE DEMENTIA
OMIM:208750 ATAXIA, DEAFNESS, AND CARDIOMYOPATHY
OMIM:208850 ATAXIA-DEAFNESS-RETARDATION SYNDROME
OMIM:208870 ATAXIA-MICROCEPHALY-CATARACT SYNDROME
OMIM:208900 ATAXIA-TELANGIECTASIA; AT
OMIM:208910 ATAXIA-TELANGIECTASIA WITH GENERALIZED SKIN PIGMENTATION AND EARLY
OMIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA;
OMIM:209010 ATHEROSCLEROSIS, PREMATURE, WITH DEAFNESS, NEPHROPATHY, DIABETES MELLITUS,
OMIM:209050 ATHROMBIA, ESSENTIAL
OMIM:209100 ATONIC-ASTATIC SYNDROME OF FOERSTER
OMIM:209300 ATRANSFERRINEMIA
OMIM:209500 ATRICHIA WITH PAPULAR LESIONS; APL
OMIM:209600 ATRIOVENTRICULAR DISSOCIATION
OMIM:209700 ATROPHODERMIA VERMICULATA
OMIM:209770 AURAL ATRESIA, MULTIPLE CONGENITAL ANOMALIES, AND MENTAL RETARDATION
OMIM:209800 AUSTRALIA ANTIGEN
OMIM:209850 AUTISM
OMIM:209880 CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS
OMIM:209885 BARBER-SAY SYNDROME
OMIM:209900 BARDET-BIEDL SYNDROME; BBS
OMIM:209920 BARE LYMPHOCYTE SYNDROME, TYPE II
OMIM:209950 ATYPICAL MYCOBACTERIOSIS, FAMILIAL
OMIM:209970 BEEMER LETHAL MALFORMATION SYNDROME
OMIM:210000 BEHR SYNDROME
OMIM:210050 BERRY ANEURYSM, CIRRHOSIS, PULMONARY EMPHYSEMA, AND CEREBRAL CALCIFICATION
OMIM:210100 BETA-AMINOISOBUTYRIC ACID, URINARY EXCRETION OF
OMIM:210200 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY
OMIM:210210 3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
OMIM:210250 SITOSTEROLEMIA
OMIM:210350 BIEMOND SYNDROME II
OMIM:210370 BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
OMIM:210400 BIFID NOSE, AUTOSOMAL RECESSIVE
OMIM:210500 BILIARY ATRESIA, EXTRAHEPATIC; EHBA
OMIM:210550 BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY
OMIM:210600 SECKEL SYNDROME 1; SCKL1
OMIM:210700 MICROCEPHALIC PRIMORDIAL DWARFISM, MONTREAL TYPE
OMIM:210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I; MOPD1
OMIM:210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2
OMIM:210730 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III
OMIM:210740 BANGSTAD SYNDROME
OMIM:210745 BLEPHAROPHIMOSIS WITH PTOSIS, SYNDACTYLY, AND SHORT STATURE
OMIM:210750 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 6; SHEP6
OMIM:210900 BLOOM SYNDROME; BLM
OMIM:211000 BLUE DIAPER SYNDROME
OMIM:211120 BONE DYSPLASIA, LETHAL, HOLMGREN TYPE
OMIM:211170 BORRONE DERMATOCARDIOSKELETAL SYNDROME
OMIM:211180 BOWEN-CONRADI SYNDROME; BWCNS
OMIM:211200 BOWEN SYNDROME OF MULTIPLE MALFORMATIONS
OMIM:211350 KYPHOMELIC DYSPLASIA
OMIM:211369 BRACHYDACTYLY, TYPE A2, WITH MICROCEPHALY
OMIM:211370 BRACHYMETAPODY-ANODONTIA-HYPOTRICHOSIS-ALBINOIDISM
OMIM:211380 BRACHIOSKELETOGENITAL SYNDROME
OMIM:211390 SABINAS BRITTLE HAIR SYNDROME
OMIM:211400 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1; BESC1
OMIM:211480 BUERGER DISEASE
OMIM:211500 FAZIO-LONDE DISEASE
OMIM:211530 BROWN-VIALETTO-VAN LAERE SYNDROME 1; BVVLS1
OMIM:211600 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1
OMIM:211750 C SYNDROME
OMIM:211770 CAHMR SYNDROME
OMIM:211800 CALCIFICATION OF JOINTS AND ARTERIES; CALJA
OMIM:211890 CAMPOMELIA, CUMMING TYPE
OMIM:211900 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL; HFTC
OMIM:211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I; GCS1
OMIM:211920 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE II
OMIM:211930 CAMPTODACTYLY WITH FIBROUS TISSUE HYPERPLASIA AND SKELETAL DYSPLASIA
OMIM:211960 CAMPTODACTYLY WITH MUSCULAR HYPOPLASIA, SKELETAL DYSPLASIA, AND ABNORMAL
OMIM:211980 LUNG CANCER
OMIM:211990 CAMPTOMELIC SYNDROME, LONG-LIMB TYPE
OMIM:212050 CANDIDIASIS, FAMILIAL, 2; CANDF2
OMIM:212060 CARBIMAZOLE SENSITIVITY
OMIM:212065 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A
OMIM:212066 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; CDG2A
OMIM:212067 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE I/IIx
OMIM:212070 CARBOXYPEPTIDASE N DEFICIENCY
OMIM:212080 CARDIAC LIPIDOSIS, FAMILIAL
OMIM:212090 CARDIAC SEPTAL DEFECTS WITH COARCTATION OF THE AORTA
OMIM:212093 CARDIAC VALVULAR DEFECT, DEVELOPMENTAL
OMIM:212100 CARDIOAUDITORY SYNDROME OF SANCHEZ CASCOS
OMIM:212112 CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM
OMIM:212130 CARDIOMYOPATHY ASSOCIATED WITH MYOPATHY AND SUDDEN DEATH
OMIM:212135 CARDIOSKELETAL SYNDROME, KUWAITI TYPE
OMIM:212138 CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
OMIM:212140 CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP
OMIM:212160 CARNITINE DEFICIENCY, MYOPATHIC
OMIM:212200 CARNOSINEMIA
OMIM:212350 SENGERS SYNDROME
OMIM:212360 PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA, AUTOSOMAL RECESSIVE
OMIM:212400 CATARACT AND CONGENITAL ICHTHYOSIS
OMIM:212500 CATARACT, CONGENITAL OR JUVENILE
OMIM:212540 CATARACT, MICROCEPHALY, FAILURE TO THRIVE, KYPHOSCOLIOSIS SYNDROME
OMIM:212550 MICROPHTHALMIA, ISOLATED, WITH CATARACT 2; MCOPCT2
OMIM:212710 CATARACT-ATAXIA-DEAFNESS-RETARDATION SYNDROME
OMIM:212720 MARTSOLF SYNDROME
OMIM:212750 CELIAC DISEASE; CD
OMIM:212780 CENANI-LENZ SYNDACTYLY SYNDROME; CLSS
OMIM:212800 CEPHALIN LIPIDOSIS
OMIM:212835 CEREBELLAR ATAXIA AND ECTODERMAL DYSPLASIA
OMIM:212840 CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM
OMIM:212850 CEREBELLAR ATAXIA AND NEUROSENSORY DEAFNESS
OMIM:212890 CEREBELLAR ATAXIA, BENIGN, WITH THERMOANALGESIA
OMIM:213000 CEREBELLAR HYPOPLASIA
OMIM:213002 CEREBELLAR HYPOPLASIA WITH ENDOSTEAL SCLEROSIS
OMIM:213010 CEREBELLAR VERMIS APLASIA WITH ASSOCIATED FEATURES SUGGESTING SMITH-LEMLI-OPITZ
OMIM:213100 CEREBELLOPARENCHYMAL DISORDER II; CPD2
OMIM:213200 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2; SCAR2
OMIM:213300 JOUBERT SYNDROME; JBTS
OMIM:213400 CEREBELLOPARENCHYMAL DISORDER V; CPD5
OMIM:213600 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1; IBGC1
OMIM:213700 CEREBROTENDINOUS XANTHOMATOSIS; CTX
OMIM:213950 CEREBROCORTICAL DEGENERATION OF INFANCY
OMIM:213980 CEREBROFACIOTHORACIC DYSPLASIA
OMIM:214100 PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER); PBD1A
OMIM:214110 PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER); PBD2A
OMIM:214150 CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1
OMIM:214200 CEROID STORAGE DISEASE
OMIM:214290 CERVICAL VERTEBRAE, AGENESIS OF
OMIM:214300 KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE; KFS2
OMIM:214350 CHANDS
OMIM:214370 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, MENTAL RETARDATION,
OMIM:214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A
OMIM:214450 GRISCELLI SYNDROME, TYPE 1; GS1
OMIM:214500 CHEDIAK-HIGASHI SYNDROME; CHS
OMIM:214700 DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL; DIAR1
OMIM:214800 CHARGE SYNDROME
OMIM:214900 CHOLESTASIS-LYMPHEDEMA SYNDROME
OMIM:214950 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; CBAS4
OMIM:214980 CHOLESTASIS WITH GALLSTONE, ATAXIA, AND VISUAL DISTURBANCE
OMIM:215030 CHOLESTEROL PNEUMONIA
OMIM:215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD
OMIM:215050 CHONDRODYSPLASIA CALCIFICANS METAPHYSEALIS
OMIM:215100 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1
OMIM:215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA
OMIM:215150 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; OSMED
OMIM:215250 CHONDROITIN-6-SULFATURIA, DEFECTIVE CELLULAR IMMUNITY, NEPHROTIC SYNDROME
OMIM:215300 CHONDROSARCOMA
OMIM:215400 CHORDOMA, SUSCEPTIBILITY TO; CHDM
OMIM:215450 CHOREA, BENIGN FAMILIAL
OMIM:215470 CHORIORETINAL DYSTROPHY, SPINOCEREBELLAR ATAXIA, AND HYPOGONADOTROPIC
OMIM:215480 CHOROID PLEXUS CALCIFICATION AND MENTAL RETARDATION
OMIM:215500 CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 1; CACD1
OMIM:215510 CHROMOSOMAL INSTABILITY WITH TISSUE-SPECIFIC RADIOSENSITIVITY
OMIM:215518 CILIARY DISCOORDINATION DUE TO RANDOM CILIARY ORIENTATION
OMIM:215520 CILIARY DYSKINESIA WITH TRANSPOSITION OF CILIARY MICROTUBULES
OMIM:215550 CIRCUMVALLATE PLACENTA SYNDROME
OMIM:215600 CIRRHOSIS, FAMILIAL
OMIM:215700 CITRULLINEMIA, CLASSIC
OMIM:215720 CITRULLINE TRANSPORT DEFECT
OMIM:215800 CLEFT LARYNX, POSTERIOR
OMIM:215850 CLEFT-LIMB-HEART MALFORMATION SYNDROME
OMIM:216100 CLEFT LIP/PALATE WITH ABNORMAL THUMBS AND MICROCEPHALY
OMIM:216300 CLEFT PALATE, DEAFNESS, AND OLIGODONTIA
OMIM:216330 CLEIDOCRANIAL DYSPLASIA, RECESSIVE FORM
OMIM:216340 CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL
OMIM:216360 COACH SYNDROME
OMIM:216400 COCKAYNE SYNDROME, TYPE A; CSA
OMIM:216411 COCKAYNE SYNDROME, TYPE III
OMIM:216550 COHEN SYNDROME; COH1
OMIM:216700 COLLAGENOSIS, FAMILIAL REACTIVE PERFORATING; RPC
OMIM:216800 COLOBOMA OF MACULA AND SKELETAL ANOMALIES
OMIM:216820 COLOBOMA, OCULAR
OMIM:216900 ACHROMATOPSIA 2; ACHM2
OMIM:216920 COMBINED INFLAMMATORY AND IMMUNOLOGIC DEFECT
OMIM:216950 COMPLEMENT COMPONENT C1r/C1s DEFICIENCY
OMIM:217000 COMPLEMENT COMPONENT 2 DEFICIENCY; C2D
OMIM:217080 JALILI SYNDROME
OMIM:217085 CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY
OMIM:217090 PLASMINOGEN DEFICIENCY, TYPE I
OMIM:217095 CONOTRUNCAL HEART MALFORMATIONS; CTHM
OMIM:217100 CONSTRICTING BANDS, CONGENITAL
OMIM:217150 CONTRACTURES, CONGENITAL, TORTICOLLIS, AND MALIGNANT HYPERTHERMIA
OMIM:217200 CONVULSIVE DISORDER, FAMILIAL, WITH PRENATAL OR EARLY ONSET
OMIM:217300 CORNEA PLANA 2; CNA2
OMIM:217400 CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS; CDPD
OMIM:217500 CORNEAL DYSTROPHY, BAND-SHAPED
OMIM:217520 CORNEAL DEGENERATION, BAND-SHAPED SPHEROID
OMIM:217600 CENTRAL CLOUDY DYSTROPHY OF FRANCOIS; CCDF
OMIM:217700 CORNEAL ENDOTHELIAL DYSTROPHY 2, AUTOSOMAL RECESSIVE; CHED2
OMIM:217800 MACULAR DYSTROPHY, CORNEAL, 1; MCDC1
OMIM:217980 CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE
OMIM:217990 CORPUS CALLOSUM, AGENESIS OF
OMIM:218000 AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN
OMIM:218010 CORTICAL BLINDNESS, RETARDATION, AND POSTAXIAL POLYDACTYLY
OMIM:218030 APPARENT MINERALOCORTICOID EXCESS; AME
OMIM:218040 COSTELLO SYNDROME
OMIM:218050 CRAMPS, FAMILIAL ADOLESCENT
OMIM:218090 CRANE-HEISE SYNDROME
OMIM:218100 CRANIAL NERVES, CONGENITAL PARESIS OF
OMIM:218200 CRANIAL NERVES, RECURRENT PARESIS OF
OMIM:218300 CRANIODIAPHYSEAL DYSPLASIA; CDD
OMIM:218330 CRANIOECTODERMAL DYSPLASIA 1; CED1
OMIM:218340 TEMTAMY SYNDROME; TEMTYS
OMIM:218350 CRANIOFACIAL DYSSYNOSTOSIS WITH SHORT STATURE
OMIM:218400 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE; CMDR
OMIM:218450 CRANIOSTENOSIS, SAGITTAL, WITH CONGENITAL HEART DISEASE, MENTAL DEFICIENCY,
OMIM:218530 CRANIOSYNOSTOSIS WITH ANOMALIES OF THE CRANIAL BASE AND DIGITS
OMIM:218550 CRANIOSYNOSTOSIS WITH FIBULAR APLASIA
OMIM:218600 BALLER-GEROLD SYNDROME; BGS
OMIM:218649 CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG
OMIM:218650 CRANIOSYNOSTOSIS-MENTAL RETARDATION-CLEFTING SYNDROME
OMIM:218670 CRANIOTELENCEPHALIC DYSPLASIA
OMIM:218700 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2
OMIM:218800 CRIGLER-NAJJAR SYNDROME, TYPE I
OMIM:218900 CROME SYNDROME
OMIM:219000 FRASER SYNDROME
OMIM:219050 CRYPTORCHIDISM, UNILATERAL OR BILATERAL
OMIM:219070 CURVED NAIL OF FOURTH TOE
OMIM:219080 ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH
OMIM:219090 PITUITARY ADENOMA, ACTH-SECRETING
OMIM:219095 CUTANEOUS PHOTOSENSITIVITY AND COLITIS, LETHAL
OMIM:219100 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA; ARCL1A
OMIM:219150 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A
OMIM:219200 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A
OMIM:219250 CUTIS MARMORATA TELANGIECTATICA CONGENITA; CMTC
OMIM:219300 CUTIS VERTICIS GYRATA AND MENTAL RETARDATION; CVG/MR
OMIM:219400 CYANOSIS AND HEPATIC DISEASE
OMIM:219500 CYSTATHIONINURIA
OMIM:219550 CYSTEINE PEPTIDURIA
OMIM:219600 CYSTIC DISEASE OF LUNG
OMIM:219700 CYSTIC FIBROSIS; CF
OMIM:219721 CYSTIC FIBROSIS WITH HELICOBACTER PYLORI GASTRITIS, MEGALOBLASTIC
OMIM:219730 VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE
OMIM:219750 CYSTINOSIS, ADULT NONNEPHROPATHIC
OMIM:219800 CYSTINOSIS, NEPHROPATHIC; CTNS
OMIM:219900 CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
OMIM:220100 CYSTINURIA
OMIM:220110 MITOCHONDRIAL COMPLEX IV DEFICIENCY
OMIM:220111 LEIGH SYNDROME, FRENCH CANADIAN TYPE; LSFC
OMIM:220120 D-GLYCERIC ACIDURIA
OMIM:220150 HYPOURICEMIA, RENAL, 1; RHUC1
OMIM:220200 DANDY-WALKER SYNDROME; DWS
OMIM:220210 DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT
OMIM:220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA,
OMIM:220220 DANDY-WALKER MALFORMATION WITH POSTAXIAL POLYDACTYLY
OMIM:220290 DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A
OMIM:220300 DEAFNESS, CONGENITAL, AND FAMILIAL MYOCLONIC EPILEPSY
OMIM:220400 JERVELL AND LANGE-NIELSEN SYNDROME 1; JLNS1
OMIM:220500 DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, AND MENTAL RETARDATION
OMIM:220600 SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS; SHFM1D
OMIM:220900 DEAFNESS, CONGENITAL, WITH TOTAL ALBINISM
OMIM:221200 DEAFNESS, COCHLEAR, WITH MYOPIA AND INTELLECTUAL IMPAIRMENT
OMIM:221300 DEAFNESS, CONDUCTIVE, WITH MALFORMED EXTERNAL EAR
OMIM:221320 DEAFNESS, CONDUCTIVE, WITH PTOSIS AND SKELETAL ANOMALIES
OMIM:221350 DEAFNESS, CONGENITAL, WITH VITILIGO AND ACHALASIA
OMIM:221400 DEAFNESS, NERVE TYPE, WITH MESENTERIC DIVERTICULA OF SMALL BOWEL AND
OMIM:221500 DEAFNESS, NEURAL, CONGENITAL MODERATE
OMIM:221700 DEAFNESS, NEURAL, WITH ATYPICAL ATOPIC DERMATITIS
OMIM:221740 DEAFNESS-OLIGODONTIA SYNDROME
OMIM:221745 DEAFNESS, SENSORINEURAL, AUTOSOMAL-MITOCHONDRIAL TYPE
OMIM:221750 PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3
OMIM:221760 DERMATOGLYPHICS--PALMAR TRIRADIUS d, ABSENCE OF
OMIM:221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY;
OMIM:221780 DERMATOGLYPHICS--HYPOTHENAR RADIAL ARCH
OMIM:221790 DERMATOLEUKODYSTROPHY
OMIM:221800 DERMOCHONDROCORNEAL DYSTROPHY
OMIM:221810 DERMATOOSTEOLYSIS, KIRGHIZIAN TYPE
OMIM:221820 LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS; HDLS
OMIM:221900 RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL; RNANC
OMIM:221950 DEXTROCARDIA WITH UNUSUAL FACIES AND MICROPHTHALMIA
OMIM:221995 DIABETES INSIPIDUS, NEPHROGENIC, WITH MENTAL RETARDATION AND INTRACEREBRAL
OMIM:222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM
OMIM:222300 WOLFRAM SYNDROME 1; WFS1
OMIM:222350 DIAMINOPENTANURIA
OMIM:222400 DIAPHRAGMATIC HERNIA 2; DIH2
OMIM:222448 DONNAI-BARROW SYNDROME
OMIM:222470 TRICHOHEPATOENTERIC SYNDROME 1; THES1
OMIM:222500 DIASTEMATOMYELIA
OMIM:222600 DIASTROPHIC DYSPLASIA
OMIM:222690 DIBASIC AMINO ACIDURIA I
OMIM:222700 LYSINURIC PROTEIN INTOLERANCE; LPI
OMIM:222730 DICARBOXYLIC AMINOACIDURIA
OMIM:222748 DIHYDROPYRIMIDINASE DEFICIENCY
OMIM:222765 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2; RCDP2
OMIM:222800 BISPHOSPHOGLYCERATE MUTASE DEFICIENCY
OMIM:222900 SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID
OMIM:223000 LACTASE DEFICIENCY, CONGENITAL
OMIM:223100 LACTOSE INTOLERANCE, ADULT TYPE
OMIM:223200 DISORGANIZATION, MOUSE, HOMOLOG OF
OMIM:223320 DIVERTICULOSIS, SMALL-INTESTINAL
OMIM:223330 DIVERTICULOSIS OF BOWEL, HERNIA, AND RETINAL DETACHMENT
OMIM:223340 DK PHOCOMELIA SYNDROME
OMIM:223350 DOHLE BODIES AND LEUKEMIA
OMIM:223360 DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL
OMIM:223370 DUBOWITZ SYNDROME
OMIM:223400 DUODENAL ATRESIA
OMIM:223500 DWARFISM, LOW-BIRTH-WEIGHT TYPE, WITH UNRESPONSIVENESS TO GROWTH HORMONE
OMIM:223540 DWARFISM, MENTAL RETARDATION, AND EYE ABNORMALITY
OMIM:223550 DWARFISM, PROPORTIONATE, WITH HIP DISLOCATION
OMIM:223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC
OMIM:223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
OMIM:224000 DYSAUTONOMIA-LIKE DISORDER
OMIM:224050 CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME
OMIM:224100 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; CDAN2
OMIM:224120 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE I; CDAN1
OMIM:224230 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 1; DKCB1
OMIM:224250 DYSMYELINATION WITH JAUNDICE
OMIM:224300 DYSOSTEOSCLEROSIS
OMIM:224400 DYSSEGMENTAL DYSPLASIA, ROLLAND-DESBUQUOIS TYPE
OMIM:224410 DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE; DDSH
OMIM:224500 DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE; DYT2
OMIM:224550 DYSTONIA WITH RINGBINDEN
OMIM:224690 MEIER-GORLIN SYNDROME 1; MGORS1
OMIM:224700 EBSTEIN ANOMALY
OMIM:224750 SCHOPF-SCHULZ-PASSARGE SYNDROME; SSPS
OMIM:224800 ECTODERMAL DYSPLASIA AND NEUROSENSORY DEAFNESS
OMIM:224900 ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL
OMIM:225000 ROSSELLI-GULIENETTI SYNDROME
OMIM:225040 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND AGENESIS
OMIM:225050 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND CILIARY
OMIM:225060 CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME; CLPED1
OMIM:225100 ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE; ECTOL2
OMIM:225200 ECTOPIA LENTIS ET PUPILLAE
OMIM:225250 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5; CHNG5
OMIM:225280 EEM SYNDROME
OMIM:225290 ECTRODACTYLY-POLYDACTYLY
OMIM:225300 SPLIT-HAND/FOOT MALFORMATION 6; SHFM6
OMIM:225310 EHLERS-DANLOS SYNDROME WITH PLATELET DYSFUNCTION FROM FIBRONECTIN
OMIM:225320 EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM
OMIM:225400 EHLERS-DANLOS SYNDROME, TYPE VI; EDS6
OMIM:225410 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE
OMIM:225450 ELLIPTOCYTOSIS, ATYPICAL
OMIM:225500 ELLIS-VAN CREVELD SYNDROME; EVC
OMIM:225700 ENCEPHALOMALACIA, MULTILOCULAR
OMIM:225740 ENCEPHALOPATHY, AXONAL, WITH NECROTIZING MYOPATHY, CARDIOMYOPATHY,
OMIM:225750 AICARDI-GOUTIERES SYNDROME 1; AGS1
OMIM:225753 PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4
OMIM:225755 ENCEPHALOPATHY WITH INTRACRANIAL CALCIFICATION, GROWTH HORMONE DEFICIENCY,
OMIM:225790 PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME;
OMIM:226000 ENDOCARDIAL FIBROELASTOSIS; EFE
OMIM:226100 ENDOCARDIAL FIBROELASTOSIS AND COARCTATION OF ABDOMINAL AORTA
OMIM:226150 ENTEROCOLITIS
OMIM:226200 ENTEROKINASE DEFICIENCY
OMIM:226300 ENTEROPATHY, PROTEIN-LOSING
OMIM:226350 EOSINOPHILIC FASCIITIS
OMIM:226400 EPIDERMODYSPLASIA VERRUCIFORMIS; EV
OMIM:226440 EPIDERMOLYSIS BULLOSA, LATE-ONSET LOCALIZED JUNCTIONAL, WITH MENTAL
OMIM:226500 EPIDERMOLYSIS BULLOSA DYSTROPHICA NEUROTROPHICA
OMIM:226600 EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE; RDEB
OMIM:226650 EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE
OMIM:226670 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY
OMIM:226700 EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE
OMIM:226730 EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA
OMIM:226735 EPIDERMOLYSIS BULLOSA WITH DIAPHRAGMATIC HERNIA
OMIM:226750 KOHLSCHUTTER-TONZ SYNDROME; KTZS
OMIM:226800 EPILEPSY, PHOTOGENIC, WITH SPASTIC DIPLEGIA AND MENTAL RETARDATION
OMIM:226810 EPILEPSY WITH BILATERAL OCCIPITAL CALCIFICATIONS
OMIM:226850 EPILEPSY-TELANGIECTASIA
OMIM:226900 EPIPHYSEAL DYSPLASIA, MULTIPLE, 4; EDM4
OMIM:226950 EPIPHYSEAL DYSPLASIA OF FEMORAL HEAD, MYOPIA, AND DEAFNESS
OMIM:226960 EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS
OMIM:226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS
OMIM:226990 EPSTEIN-BARR VIRUS, SUSCEPTIBILITY TO CHRONIC INFECTION BY
OMIM:227000 ERYTHEMA OF ACRAL REGIONS
OMIM:227010 ERMINE PHENOTYPE
OMIM:227050 TRANSIENT ERYTHROBLASTOPENIA OF CHILDHOOD; TEC
OMIM:227090 ERYTHRODERMA, LETHAL CONGENITAL
OMIM:227150 ETHANOLAMINOSIS
OMIM:227200 EUNUCHOIDISM, FAMILIAL HYPOGONADOTROPIC
OMIM:227210 EYEBROWS, DUPLICATION OF, WITH STRETCHABLE SKIN AND SYNDACTYLY
OMIM:227220 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1
OMIM:227240 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5; SHEP5
OMIM:227250 FACIAL ABNORMALITIES, KYPHOSCOLIOSIS, AND MENTAL RETARDATION
OMIM:227255 FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS
OMIM:227260 FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3
OMIM:227270 FACIOCARDIOMELIC DYSPLASIA, LETHAL
OMIM:227280 FACIOCARDIORENAL SYNDROME
OMIM:227300 FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1; F5F8D1
OMIM:227310 FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, WITH NORMAL PROTEIN
OMIM:227320 FACIOTHORACOGENITAL SYNDROME
OMIM:227330 FACIODIGITOGENITAL SYNDROME, AUTOSOMAL RECESSIVE
OMIM:227400 FACTOR V DEFICIENCY
OMIM:227500 FACTOR VII DEFICIENCY
OMIM:227600 FACTOR X DEFICIENCY
OMIM:227645 FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC
OMIM:227646 FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2
OMIM:227650 FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA
OMIM:227810 FANCONI-BICKEL SYNDROME; FBS
OMIM:227850 FANCONI-LIKE SYNDROME
OMIM:228000 FARBER LIPOGRANULOMATOSIS
OMIM:228020 FASCIAL DYSTROPHY, CONGENITAL
OMIM:228100 VISCERAL STEATOSIS, CONGENITAL
OMIM:228200 FEMUR-FIBULA-ULNA SYNDROME
OMIM:228250 FEMUR, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY
OMIM:228300 FERTILE EUNUCH SYNDROME
OMIM:228355 FETAL IODINE DEFICIENCY DISORDER; FIDD
OMIM:228400 FEVER, FAMILIAL LIFELONG PERSISTENT
OMIM:228520 FIBROCHONDROGENESIS 1; FBCG1
OMIM:228550 FIBROMATOSIS, CONGENITAL GENERALIZED; CGF
OMIM:228560 FIBROMATOSIS, GINGIVAL, WITH DISTINCTIVE FACIES
OMIM:228600 HYALINE FIBROMATOSIS SYNDROME; HFS
OMIM:228800 FIBROSCLEROSIS, MULTIFOCAL
OMIM:228900 FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY
OMIM:228930 FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND
OMIM:228940 FIBULOULNAR APLASIA OR HYPOPLASIA WITH RENAL ABNORMALITIES
OMIM:228960 HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY
OMIM:228980 FLECK RETINA, FAMILIAL BENIGN; FRFB
OMIM:228990 FLECK RETINA OF KANDORI
OMIM:229045 FOCAL EPITHELIAL HYPERPLASIA, ORAL
OMIM:229050 FOLATE MALABSORPTION, HEREDITARY
OMIM:229070 FOLLICLE-STIMULATING HORMONE DEFICIENCY, ISOLATED
OMIM:229100 FORMIMINOTRANSFERASE DEFICIENCY
OMIM:229120 FOUNTAIN SYNDROME
OMIM:229200 BRITTLE CORNEA SYNDROME 1; BCS1
OMIM:229230 FRASER-LIKE SYNDROME
OMIM:229250 FREESIA FLOWERS, INABILITY TO SMELL
OMIM:229300 FRIEDREICH ATAXIA 1; FRDA
OMIM:229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA
OMIM:229400 FRONTOFACIONASAL DYSPLASIA
OMIM:229500 FRUCTOSE AND GALACTOSE INTOLERANCE
OMIM:229600 FRUCTOSE INTOLERANCE, HEREDITARY
OMIM:229700 FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY
OMIM:229850 FRYNS SYNDROME; FRNS
OMIM:230000 FUCOSIDOSIS
OMIM:230200 GALACTOKINASE DEFICIENCY
OMIM:230300 GALACTORRHEA
OMIM:230350 GALACTOSE EPIMERASE DEFICIENCY
OMIM:230400 GALACTOSEMIA
OMIM:230450 GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE
OMIM:230500 GM1-GANGLIOSIDOSIS, TYPE I
OMIM:230600 GM1-GANGLIOSIDOSIS, TYPE II
OMIM:230650 GM1-GANGLIOSIDOSIS, TYPE III
OMIM:230740 GAPO SYNDROME
OMIM:230750 GASTROSCHISIS
OMIM:230800 GAUCHER DISEASE, TYPE I
OMIM:230900 GAUCHER DISEASE, TYPE II
OMIM:231000 GAUCHER DISEASE, TYPE III
OMIM:231005 GAUCHER DISEASE, TYPE IIIC
OMIM:231050 GELEOPHYSIC DYSPLASIA 1; GPHYSD1
OMIM:231060 GENITOPALATOCARDIAC SYNDROME
OMIM:231070 GERODERMA OSTEODYSPLASTICUM; GO
OMIM:231080 GERMAN SYNDROME
OMIM:231090 HYDATIDIFORM MOLE, RECURRENT, 1; HYDM1
OMIM:231095 GHOSAL HEMATODIAPHYSEAL DYSPLASIA; GHDD
OMIM:231100 HEMOCHROMATOSIS, NEONATAL
OMIM:231200 BERNARD-SOULIER SYNDROME; BSS
OMIM:231300 GLAUCOMA 3, PRIMARY CONGENITAL, A; GLC3A
OMIM:231530 3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY
OMIM:231550 ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAAS
OMIM:231630 MONOSODIUM GLUTAMATE SENSITIVITY
OMIM:231670 GLUTARIC ACIDEMIA I
OMIM:231680 MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD
OMIM:231690 GLUTARIC ACIDURIA III
OMIM:231900 GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA
OMIM:231950 GLUTATHIONURIA
OMIM:231970 GLUTEAL MUSCLES, ABSENCE OF
OMIM:232200 GLYCOGEN STORAGE DISEASE Ia
OMIM:232220 GLYCOGEN STORAGE DISEASE Ib
OMIM:232240 GLYCOGEN STORAGE DISEASE Ic
OMIM:232300 GLYCOGEN STORAGE DISEASE II
OMIM:232400 GLYCOGEN STORAGE DISEASE III
OMIM:232500 GLYCOGEN STORAGE DISEASE IV
OMIM:232600 GLYCOGEN STORAGE DISEASE V
OMIM:232700 GLYCOGEN STORAGE DISEASE VI
OMIM:232800 GLYCOGEN STORAGE DISEASE VII
OMIM:232900 GLYCOPROTEIN STORAGE DISEASE
OMIM:233100 RENAL GLUCOSURIA; GLYS1
OMIM:233270 GOMBO SYNDROME
OMIM:233300 OVARIAN DYSGENESIS 1; ODG1
OMIM:233400 PERRAULT SYNDROME 1; PRLTS1
OMIM:233420 46,XY SEX REVERSAL 7; SRXY7
OMIM:233430 GONADAL DYSGENESIS, XY TYPE, WITH ASSOCIATED ANOMALIES
OMIM:233450 GOODPASTURE SYNDROME
OMIM:233500 GORLIN-CHAUDHRY-MOSS SYNDROME
OMIM:233600 GRANULOCYTOPENIA WITH IMMUNOGLOBULIN ABNORMALITY
OMIM:233650 COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS; CCHIDG
OMIM:233670 GRANULOMATOUS DISEASE WITH DEFECT IN NEUTROPHIL CHEMOTAXIS
OMIM:233690 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE
OMIM:233700 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,
OMIM:233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,
OMIM:233800 GROUPED PIGMENTATION OF THE RETINA
OMIM:233805 GROWTH FACTORS, COMBINED DEFECT OF
OMIM:233810 GROWTH RETARDATION, SMALL AND PUFFY HANDS AND FEET, AND ECZEMA
OMIM:233910 HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B
OMIM:234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION
OMIM:234050 TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1
OMIM:234100 HALLERMANN-STREIFF SYNDROME; HSS
OMIM:234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1
OMIM:234250 HALL-RIGGS MENTAL RETARDATION SYNDROME
OMIM:234280 HALLUX VARUS AND PREAXIAL POLYSYNDACTYLY
OMIM:234350 HALOTHANE HEPATITIS
OMIM:234500 HARTNUP DISORDER
OMIM:234580 HEARING LOSS, SENSORINEURAL, WITH ENAMEL HYPOPLASIA AND NAIL DEFECTS
OMIM:234700 HEART BLOCK, CONGENITAL
OMIM:234800 HEMANGIOMATOSIS, CUTANEOUS, WITH ASSOCIATED FEATURES
OMIM:234810 HEMANGIOMATOSIS, FAMILIAL PULMONARY CAPILLARY
OMIM:235000 HEMIHYPERPLASIA, ISOLATED; IH
OMIM:235200 HEMOCHROMATOSIS; HFE
OMIM:235255 MULLERIAN DERIVATIVES, PERSISTENCE OF, WITH LYMPHANGIECTASIA AND POSTAXIAL
OMIM:235370 HEMOLYTIC ANEMIA WITH THERMAL SENSITIVITY OF RED CELLS
OMIM:235400 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1
OMIM:235500 HEMOSIDEROSIS, PULMONARY, WITH DEFICIENCY OF GAMMA-A GLOBULIN
OMIM:235510 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME
OMIM:235550 HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY; VODI
OMIM:235555 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2; CBAS2
OMIM:235700 HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
OMIM:235730 MOWAT-WILSON SYNDROME
OMIM:235740 HIRSCHSPRUNG DISEASE WITH POLYDACTYLY, RENAL AGENESIS, AND DEAFNESS
OMIM:235750 HIRSCHSPRUNG DISEASE WITH ULNAR POLYDACTYLY, POLYSYNDACTYLY OF BIG
OMIM:235760 HIRSCHSPRUNG DISEASE WITH HYPOPLASTIC NAILS AND DYSMORPHIC FACIAL
OMIM:235800 HISTIDINEMIA
OMIM:235830 HISTIDINURIA DUE TO A RENAL TUBULAR DEFECT
OMIM:235900 HISTIOCYTOSIS, FAMILIAL LIPOCHROME
OMIM:236000 LYMPHOMA, HODGKIN
OMIM:236100 HOLOPROSENCEPHALY
OMIM:236110 HOLZGREVE SYNDROME
OMIM:236130 HOMOCARNOSINOSIS
OMIM:236200 HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
OMIM:236250 HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE
OMIM:236270 HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM,
OMIM:236300 HOOFT DISEASE
OMIM:236400 HUMERORADIAL SYNOSTOSIS
OMIM:236410 HUMERORADIAL SYNOSTOSIS WITH CRANIOFACIAL ANOMALIES
OMIM:236450 HUTTERITE CEREBROOSTEONEPHRODYSPLASIA SYNDROME
OMIM:236500 HYDRANENCEPHALY WITH RENAL APLASIA-DYSPLASIA
OMIM:236600 HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE; HYC
OMIM:236640 HYDROCEPHALUS WITH ASSOCIATED MALFORMATIONS
OMIM:236660 HYDROCEPHALUS, TALL STATURE, JOINT LAXITY, AND KYPHOSCOLIOSIS
OMIM:236670 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE
OMIM:236680 HYDROLETHALUS SYNDROME 1; HLS1
OMIM:236690 HYDROCEPHALUS, NORMAL-PRESSURE
OMIM:236700 MCKUSICK-KAUFMAN SYNDROME; MKKS
OMIM:236730 UROFACIAL SYNDROME 1; UFS1
OMIM:236750 HYDROPS FETALIS, NONIMMUNE; NIHF
OMIM:236792 L-2-HYDROXYGLUTARIC ACIDURIA
OMIM:236795 3-@HYDROXYISOBUTYRIC ACIDURIA
OMIM:236800 HYDROXYKYNURENINURIA
OMIM:236900 HYDROXYLYSINURIA
OMIM:237000 HYDROXYPROLINEMIA
OMIM:237100 HYMEN, IMPERFORATE
OMIM:237300 CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO
OMIM:237310 N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
OMIM:237400 HYPER-BETA-ALANINEMIA
OMIM:237450 HYPERBILIRUBINEMIA, ROTOR TYPE; HBLRR
OMIM:237500 DUBIN-JOHNSON SYNDROME; DJS
OMIM:237550 HYPERBILIRUBINEMIA, CONJUGATED, TYPE III
OMIM:237800 HYPERBILIRUBINEMIA, SHUNT, PRIMARY; PSHB
OMIM:237900 HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL; HBLRTFN
OMIM:238320 LEYDIG CELL HYPOPLASIA, TYPE I
OMIM:238340 HYPERLEUCINE-ISOLEUCINEMIA
OMIM:238350 HYPERLEXIA
OMIM:238600 HYPERLIPOPROTEINEMIA, TYPE I
OMIM:238700 HYPERLYSINEMIA
OMIM:238710 HYPERLYSINEMIA DUE TO DEFECT IN LYSINE TRANSPORT INTO MITOCHONDRIA
OMIM:238750 HYPERLYSINURIA WITH HYPERAMMONEMIA
OMIM:238950 HYPEROPIA, HIGH
OMIM:238970 HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME
OMIM:239000 PAGET DISEASE, JUVENILE
OMIM:239100 HYPEROSTOSIS CORTICALIS GENERALISATA
OMIM:239199 HYPERPARATHYROIDISM, NEONATAL SELF-LIMITED PRIMARY, WITH HYPERCALCIURIA
OMIM:239200 HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY; NSHPT
OMIM:239300 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1; HPMRS1
OMIM:239350 HYPERPHOSPHATEMIA, POLYURIA, AND SEIZURES
OMIM:239500 HYPERPROLINEMIA, TYPE I; HPI
OMIM:239510 HYPERPROLINEMIA, TYPE II; HPII
OMIM:239710 ACROFRONTOFACIONASAL DYSOSTOSIS 2
OMIM:239711 HYPERTELORISM AND TETRALOGY OF FALLOT
OMIM:239800 HYPERTELORISM, MICROTIA, FACIAL CLEFTING SYNDROME
OMIM:239840 HYPERTRICHOSIS, CONGENITAL ANTERIOR CERVICAL, WITH PERIPHERAL SENSORY
OMIM:239850 CANTU SYNDROME
OMIM:239900 HYPERTROPHIC NEUROPATHY AND CATARACT
OMIM:240000 HYPERURICEMIA, INFANTILE, WITH ABNORMAL BEHAVIOR AND NORMAL HYPOXANTHINE
OMIM:240150 HYPERVITAMINOSIS A, SUSCEPTIBILITY TO
OMIM:240200 HYPOADRENOCORTICISM, FAMILIAL
OMIM:240300 AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I; APS1
OMIM:240500 IMMUNODEFICIENCY, COMMON VARIABLE, 2; CVID2
OMIM:240600 GLYCOGEN STORAGE DISEASE 0, LIVER
OMIM:240800 HYPOGLYCEMIA, LEUCINE-INDUCED; LIH
OMIM:240900 HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY; HIHGHH
OMIM:240950 HYPOGONADISM-CATARACT SYNDROME
OMIM:241000 HYPOGONADISM WITH LOW-GRADE MENTAL DEFICIENCY AND MICROCEPHALY
OMIM:241080 WOODHOUSE-SAKATI SYNDROME
OMIM:241090 HYPERGONADOTROPIC HYPOGONADISM AND PARTIAL ALOPECIA
OMIM:241100 HYPOGONADISM, MALE
OMIM:241120 HYPOHIDROSIS WITH ABNORMAL PALMAR DERMAL RIDGES
OMIM:241150 HYPOKALEMIA, FAMILIAL
OMIM:241200 BARTTER SYNDROME, ANTENATAL, TYPE 2
OMIM:241310 HYPOMANDIBULAR FACIOCRANIAL DYSOSTOSIS
OMIM:241410 HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRD
OMIM:241500 HYPOPHOSPHATASIA, INFANTILE
OMIM:241510 HYPOPHOSPHATASIA, CHILDHOOD
OMIM:241519 HYPOPHOSPHATEMIA, RENAL, WITH INTRACEREBRAL CALCIFICATIONS
OMIM:241520 HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 1; ARHR1
OMIM:241530 HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH
OMIM:241550 HYPOPLASTIC LEFT HEART SYNDROME 1; HLHS1
OMIM:241600 HYPOPROTEINEMIA, HYPERCATABOLIC
OMIM:241760 HYPOSPADIAS-MENTAL RETARDATION SYNDROME
OMIM:241800 HYPOTHALAMIC HAMARTOMAS
OMIM:241850 HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE
OMIM:242050 HYPOURICEMIA, HYPERCALCINURIA, AND DECREASED BONE DENSITY
OMIM:242100 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2; ARCI2
OMIM:242150 ICHTHYOSIFORM ERYTHRODERMA, CORNEAL INVOLVEMENT, AND DEAFNESS
OMIM:242300 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1; ARCI1
OMIM:242500 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B; ARCI4B
OMIM:242510 ICHTHYOSIS WITH ALOPECIA, ECLABIUM, ECTROPION, AND MENTAL RETARDATION
OMIM:242520 ICHTHYOSIS, HEPATOSPLENOMEGALY, AND CEREBELLAR DEGENERATION
OMIM:242530 ICHTHYOSIS, MENTAL RETARDATION, DWARFISM, AND RENAL IMPAIRMENT
OMIM:242550 ICHTHYOSIS, SPLIT HAIRS, AND AMINO ACIDURIA
OMIM:242600 IMINOGLYCINURIA
OMIM:242670 CILIARY DYSKINESIA WITH DEFECTIVE RADIAL SPOKES
OMIM:242680 CILIARY DYSKINESIA WITH EXCESSIVELY LONG CILIA
OMIM:242700 IMMUNE DEFECT DUE TO ABSENCE OF THYMUS
OMIM:242840 VICI SYNDROME; VICIS
OMIM:242850 IMMUNE DEFICIENCY DISEASE
OMIM:242860 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME
OMIM:242870 IMMUNODEFICIENCY, PARTIAL COMBINED, WITH ABSENCE OF HLA DETERMINANTS
OMIM:242880 IMMUNOERYTHROMYELOID HYPOPLASIA
OMIM:242890 IMMUNOGLOBULIN D LEVEL IN PLASMA, LOW
OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE
OMIM:243000 INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE
OMIM:243050 INDOLYLACROYL GLYCINURIA WITH MENTAL RETARDATION
OMIM:243060 SPERMATOGENIC FAILURE 5; SPGF5
OMIM:243080 INOSINE PHOSPHORYLASE DEFICIENCY, IMMUNE DEFECT DUE TO
OMIM:243100 INTERNAL CAROTID ARTERIES, HYPOPLASIA OF
OMIM:243110 IMMUNODEFICIENCY WITH DEFECTIVE T-CELL RESPONSE TO INTERLEUKIN 1
OMIM:243150 INTESTINAL ATRESIA, MULTIPLE
OMIM:243180 VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL RECESSIVE
OMIM:243185 INTESTINAL PSEUDOOBSTRUCTION WITH PATENT DUCTUS ARTERIOSUS AND NATAL
OMIM:243200 INTRACRANIAL HYPERTENSION, IDIOPATHIC
OMIM:243300 CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1
OMIM:243310 BARAITSER-WINTER SYNDROME 1; BRWS1
OMIM:243320 INTRINSIC FACTOR AND R BINDER, COMBINED CONGENITAL DEFICIENCY OF
OMIM:243440 ISOTRETINOIN EMBRYOPATHY-LIKE SYNDROME
OMIM:243450 ISOVALERIC ACID, INABILITY TO SMELL
OMIM:243500 ISOVALERIC ACIDEMIA; IVA
OMIM:243600 JEJUNAL ATRESIA
OMIM:243700 HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE
OMIM:243800 JOHANSON-BLIZZARD SYNDROME; JBS
OMIM:243910 ARIMA SYNDROME
OMIM:244200 HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA; HH3
OMIM:244300 KAPUR-TORIELLO SYNDROME
OMIM:244400 CILIARY DYSKINESIA, PRIMARY, 1; CILD1
OMIM:244450 KAUFMAN OCULOCEREBROFACIAL SYNDROME
OMIM:244460 KENNY-CAFFEY SYNDROME, TYPE 1; KCS1
OMIM:244600 KERATOCONUS POSTICUS CIRCUMSCRIPTUS; KPC
OMIM:244850 KERATODERMA, PALMOPLANTAR, NORRBOTTEN RECESSIVE TYPE
OMIM:245000 PAPILLON-LEFEVRE SYNDROME; PALS
OMIM:245010 HAIM-MUNK SYNDROME; HMS
OMIM:245050 SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY
OMIM:245100 KETOACIDURIA WITH MENTAL DEFICIENCY AND OTHER FEATURES
OMIM:245130 KETOADIPICACIDURIA
OMIM:245150 KEUTEL SYNDROME
OMIM:245160 KNIEST-LIKE DYSPLASIA WITH PURSED LIPS AND ECTOPIA LENTIS
OMIM:245180 KIFAFA SEIZURE DISORDER
OMIM:245190 KNIEST-LIKE DYSPLASIA, LETHAL
OMIM:245200 KRABBE DISEASE
OMIM:245300 KURU, SUSCEPTIBILITY TO
OMIM:245340 ERYTHROCYTE LACTATE TRANSPORTER DEFECT
OMIM:245348 PYRUVATE DEHYDROGENASE E2 DEFICIENCY; PDHDD
OMIM:245349 PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY; PDHXD
OMIM:245400 MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH
OMIM:245450 LACTIC ACIDURIA DUE TO D-LACTIC ACID
OMIM:245480 SPECIFIC GRANULE DEFICIENCY; SGD
OMIM:245550 LAMBERT SYNDROME
OMIM:245552 LAMBOTTE SYNDROME
OMIM:245570 LANDAU-KLEFFNER SYNDROME; LKS
OMIM:245590 GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY
OMIM:245600 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM,
OMIM:245650 LARSEN-LIKE SYNDROME, LETHAL TYPE
OMIM:245660 LARYNGOONYCHOCUTANEOUS SYNDROME; LOCS
OMIM:245800 LAURENCE-MOON SYNDROME
OMIM:245900 LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
OMIM:246000 LEG, ABSENCE DEFORMITY OF, WITH CONGENITAL CATARACT
OMIM:246200 DONOHUE SYNDROME
OMIM:246300 LEPROSY, SUSCEPTIBILITY TO, 3; LPRS3
OMIM:246400 LETTERER-SIWE DISEASE
OMIM:246450 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY; HMGCLD
OMIM:246470 LEUKEMIA, ACUTE MYELOCYTIC, WITH POLYPOSIS COLI AND COLON CANCER
OMIM:246500 LEUKOMELANODERMA, INFANTILISM, MENTAL RETARDATION, HYPODONTIA, HYPOTRICHOSIS
OMIM:246550 LICHTENSTEIN SYNDROME
OMIM:246555 LIMB DEFECTS, DISTAL TRANSVERSE, WITH MENTAL RETARDATION AND SPASTICITY
OMIM:246560 SPLIT-HAND/FOOT MALFORMATION 3; SHFM3
OMIM:246570 FIBULAR APLASIA, TIBIAL CAMPOMELIA, AND OLIGOSYNDACTYLY SYNDROME
OMIM:246700 CHYLOMICRON RETENTION DISEASE; CMRD
OMIM:246900 DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD
OMIM:247100 LIPOID PROTEINOSIS OF URBACH AND WIETHE
OMIM:247150 LIP PRINTS
OMIM:247200 MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS
OMIM:247410 LYMPHEDEMA-HYPOPARATHYROIDISM SYNDROME
OMIM:247420 LUTHERAN NULL
OMIM:247430 LYMPHOBLASTIC TRANSFORMATION, INHIBITION OF
OMIM:247440 LYMPHEDEMA, CONGENITAL RECESSIVE
OMIM:247450 LYMPHOBLASTIC TRANSFORMATION, INTRINSIC DEFECT IN
OMIM:247610 LYMPHOID INTERSTITIAL PNEUMONIA; LIP
OMIM:247630 LYMPHOID SYSTEM DETERIORATION, PROGRESSIVE
OMIM:247640 LYMPHOBLASTIC LEUKEMIA, ACUTE, WITH LYMPHOMATOUS FEATURES; LALL
OMIM:247650 LYMPHOKINE DEFICIENCY
OMIM:247800 LYMPHOPENIC HYPERGAMMAGLOBULINEMIA, ANTIBODY DEFICIENCY, AUTOIMMUNE
OMIM:247950 LYSINE MALABSORPTION SYNDROME
OMIM:247990 MACDERMOT-WINTER SYNDROME
OMIM:248000 MACROCEPHALY
OMIM:248010 MACROEPIPHYSEAL DYSPLASIA WITH OSTEOPOROSIS, WRINKLED SKIN, AND AGED
OMIM:248100 MACROSOMIA ADIPOSA CONGENITA
OMIM:248110 MACROSOMIA WITH MICROPHTHALMIA, LETHAL
OMIM:248190 HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT; HOMG5
OMIM:248200 STARGARDT DISEASE 1; STGD1
OMIM:248250 HYPOMAGNESEMIA 3, RENAL; HOMG3
OMIM:248300 MAL DE MELEDA
OMIM:248340 3MC SYNDROME 3; 3MC3
OMIM:248360 MALONYL-CoA DECARBOXYLASE DEFICIENCY
OMIM:248370 MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA
OMIM:248390 TREACHER COLLINS SYNDROME 3; TCS3
OMIM:248400 MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL DEFICIENCY
OMIM:248450 MANITOBA OCULOTRICHOANAL SYNDROME; MOTA
OMIM:248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA
OMIM:248510 MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB
OMIM:248600 MAPLE SYRUP URINE DISEASE; MSUD
OMIM:248700 MARDEN-WALKER SYNDROME
OMIM:248760 MARFANOID HABITUS WITH MICROCEPHALY AND GLOMERULONEPHRITIS
OMIM:248770 MARFANOID MENTAL RETARDATION SYNDROME, AUTOSOMAL
OMIM:248800 MARINESCO-SJOGREN SYNDROME; MSS
OMIM:248900 MAST SYNDROME
OMIM:248910 CUTANEOUS MASTOCYTOSIS, CONDUCTIVE HEARING LOSS AND MICROTIA
OMIM:248950 MCDONOUGH SYNDROME
OMIM:249000 MECKEL SYNDROME, TYPE 1; MKS1
OMIM:249100 FAMILIAL MEDITERRANEAN FEVER; FMF
OMIM:249210 MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME
OMIM:249230 MEGAEPIPHYSEAL DWARFISM
OMIM:249240 MEGALENCEPHALY WITH DYSMYELINATION
OMIM:249270 THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; TRMA
OMIM:249300 MEGALOCORNEA
OMIM:249310 MEGALOCORNEA-MENTAL RETARDATION SYNDROME
OMIM:249400 MELANOSIS, NEUROCUTANEOUS
OMIM:249420 FRANK-TER HAAR SYNDROME; FTHS
OMIM:249500 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1; MRT1
OMIM:249599 MENTAL RETARDATION SYNDROME, BELGIAN TYPE
OMIM:249600 MENTAL RETARDATION SYNDROME, MIETENS-WEBER TYPE
OMIM:249620 OHDO SYNDROME
OMIM:249630 MENTAL RETARDATION, BUENOS AIRES TYPE
OMIM:249650 MERCAPTOLACTATE-CYSTEINE DISULFIDURIA; MCDU
OMIM:249660 MESANGIAL SCLEROSIS, DIFFUSE RENAL, WITH OCULAR ABNORMALITIES
OMIM:249670 MESOAXIAL HEXADACTYLY AND CARDIAC MALFORMATION
OMIM:249700 LANGER MESOMELIC DYSPLASIA; LMD
OMIM:249710 MESOMELIC LIMB SHORTENING AND BOWING
OMIM:249900 METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY
OMIM:250100 METACHROMATIC LEUKODYSTROPHY
OMIM:250215 METAPHYSEAL ACROSCYPHODYSPLASIA
OMIM:250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE
OMIM:250230 METAPHYSEAL CHONDRODYSPLASIA, KAITILA TYPE
OMIM:250250 CARTILAGE-HAIR HYPOPLASIA; CHH
OMIM:250300 METAPHYSEAL CHONDRODYSPLASIA, PENA TYPE
OMIM:250400 METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE
OMIM:250410 METAPHYSEAL CHONDRODYSPLASIA WITH RETINITIS PIGMENTOSA
OMIM:250420 METAPHYSEAL DYSOSTOSIS, MENTAL RETARDATION, AND CONDUCTIVE DEAFNESS
OMIM:250450 METAPHYSEAL DYSPLASIA, ANETODERMA, AND OPTIC ATROPHY
OMIM:250460 METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS
OMIM:250500 METAPHYSEAL MODELING ABNORMALITY, SKIN LESIONS, AND SPASTIC PARAPLEGIA
OMIM:250620 BETA-HYDROXYISOBUTYRYL CoA DEACYLASE DEFICIENCY
OMIM:250650 METHANE PRODUCTION
OMIM:250700 METHEMOGLOBIN REDUCTASE DEFICIENCY
OMIM:250790 METHEMOGLOBINEMIA TYPE IV
OMIM:250800 METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE
OMIM:250850 METHIONINE ADENOSYLTRANSFERASE DEFICIENCY
OMIM:250900 METHIONINE MALABSORPTION SYNDROME
OMIM:250940 METHYLCOBALAMIN DEFICIENCY, cblG TYPE
OMIM:250950 3-@METHYLGLUTACONIC ACIDURIA, TYPE I; MGCA1
OMIM:250951 3-@METHYLGLUTACONIC ACIDURIA, TYPE IV; MGCA4
OMIM:251000 METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY
OMIM:251100 METHYLMALONIC ACIDURIA, cblA TYPE
OMIM:251110 METHYLMALONIC ACIDURIA, cblB TYPE
OMIM:251120 METHYLMALONYL-CoA EPIMERASE DEFICIENCY
OMIM:251190 MICROCEPHALIC PRIMORDIAL DWARFISM, TORIELLO TYPE
OMIM:251200 MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE; MCPH1
OMIM:251220 MICROCEPHALY-CARDIOMYOPATHY
OMIM:251230 MICROCEPHALY-MICROMELIA SYNDROME
OMIM:251240 MICROCEPHALY WITH CHEMOTACTIC DEFECT AND TRANSIENT HYPOGAMMAGLOBULINEMIA
OMIM:251250 MICROCEPHALY WITH CERVICAL SPINE FUSION ANOMALIES
OMIM:251255 JAWAD SYNDROME; JWDS
OMIM:251260 NIJMEGEN BREAKAGE SYNDROME
OMIM:251270 MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION,
OMIM:251280 MICROCEPHALY WITH SPASTIC QUADRIPLEGIA
OMIM:251290 BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA;
OMIM:251300 MICROCEPHALY, HIATAL HERNIA, AND NEPHROTIC SYNDROME
OMIM:251400 MICROCOLON
OMIM:251450 DESBUQUOIS DYSPLASIA; DBQD
OMIM:251505 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 4; MCOPCB4
OMIM:251600 MICROPHTHALMIA, ISOLATED 1; MCOP1
OMIM:251700 MICROPHTHALMIA WITH HYPEROPIA, RETINAL DEGENERATION, MACROPHAKIA,
OMIM:251750 MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH
OMIM:251800 MICROTIA WITH MEATAL ATRESIA AND CONDUCTIVE DEAFNESS
OMIM:251850 DIARRHEA 2, WITH MICROVILLUS ATROPHY; DIAR2
OMIM:251880 MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE); MTDPS3
OMIM:251900 MITOCHONDRIAL MYOPATHY
OMIM:251945 MITOCHONDRIAL MYOPATHY WITH A DEFECT IN MITOCHONDRIAL-PROTEIN TRANSPORT
OMIM:251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS
OMIM:252010 MITOCHONDRIAL COMPLEX I DEFICIENCY
OMIM:252011 MITOCHONDRIAL COMPLEX II DEFICIENCY
OMIM:252100 MOHR SYNDROME
OMIM:252150 MOLYBDENUM COFACTOR DEFICIENCY
OMIM:252250 MONOCYTE CHEMOTACTIC DISORDER
OMIM:252270 MONOSOMY 7 OF BONE MARROW
OMIM:252300 MORQUIO SYNDROME C
OMIM:252320 MOTOR NEUROPATHY, PERIPHERAL, WITH DYSAUTONOMIA
OMIM:252350 MOYAMOYA DISEASE 1; MYMY1
OMIM:252500 MUCOLIPIDOSIS II ALPHA/BETA
OMIM:252600 MUCOLIPIDOSIS III ALPHA/BETA
OMIM:252605 MUCOLIPIDOSIS III GAMMA
OMIM:252650 MUCOLIPIDOSIS IV
OMIM:252700 MUCOPOLYSACCHARIDOSES, UNCLASSIFIED TYPES
OMIM:252900 MUCOPOLYSACCHARIDOSIS TYPE IIIA
OMIM:252920 MUCOPOLYSACCHARIDOSIS TYPE IIIB
OMIM:252930 MUCOPOLYSACCHARIDOSIS TYPE IIIC
OMIM:252940 MUCOPOLYSACCHARIDOSIS TYPE IIID
OMIM:253000 MUCOPOLYSACCHARIDOSIS TYPE IVA
OMIM:253010 MUCOPOLYSACCHARIDOSIS TYPE IVB
OMIM:253200 MUCOPOLYSACCHARIDOSIS TYPE VI
OMIM:253220 MUCOPOLYSACCHARIDOSIS TYPE VII
OMIM:253240 MUCUS INSPISSATION OF RESPIRATORY TRACT
OMIM:253250 MULIBREY NANISM
OMIM:253260 BIOTINIDASE DEFICIENCY
OMIM:253270 HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
OMIM:253280 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE
OMIM:253290 MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE; LMPS
OMIM:253300 SPINAL MUSCULAR ATROPHY, TYPE I; SMA1
OMIM:253310 LETHAL CONGENITAL CONTRACTURE SYNDROME 1; LCCS1
OMIM:253320 MULTICORE MYOPATHY WITH MENTAL RETARDATION, SHORT STATURE, AND HYPOGONADOTROPIC
OMIM:253400 SPINAL MUSCULAR ATROPHY, TYPE III; SMA3
OMIM:253550 SPINAL MUSCULAR ATROPHY, TYPE II; SMA2
OMIM:253590 MUSCULAR DYSTROPHY, ADULT-ONSET, WITH LEUKOENCEPHALOPATHY
OMIM:253600 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A
OMIM:253601 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B
OMIM:253700 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C
OMIM:253800 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE
OMIM:253900 MUSCULAR DYSTROPHY, CONGENITAL, PRODUCING ARTHROGRYPOSIS
OMIM:254000 MUSCULAR DYSTROPHY, CONGENITAL, WITH INFANTILE CATARACT AND HYPOGONADISM
OMIM:254090 ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD
OMIM:254100 MUSCULAR DYSTROPHY, CONGENITAL, WITH RAPID PROGRESSION
OMIM:254110 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H; LGMD2H
OMIM:254120 MUSCULAR HYPERTONIA, LETHAL
OMIM:254130 MIYOSHI MUSCULAR DYSTROPHY 1; MMD1
OMIM:254150 MUSK, INABILITY TO SMELL
OMIM:254190 MYASTHENIA, CONGENITAL, REFRACTORY TO ACETYLCHOLINESTERASE INHIBITORS
OMIM:254200 MYASTHENIA GRAVIS; MG
OMIM:254210 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
OMIM:254300 MYASTHENIA, LIMB-GIRDLE, FAMILIAL
OMIM:254400 MYCOSIS FUNGOIDES
OMIM:254450 MYELOFIBROSIS
OMIM:254500 MYELOMA, MULTIPLE
OMIM:254600 MYELOPEROXIDASE DEFICIENCY; MPOD
OMIM:254700 MYELOPROLIFERATIVE DISEASE, AUTOSOMAL RECESSIVE
OMIM:254770 EPILEPSY, MYOCLONIC JUVENILE; EJM
OMIM:254780 MYOCLONIC EPILEPSY OF LAFORA
OMIM:254800 MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG
OMIM:254900 EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE;
OMIM:254940 MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN
OMIM:254950 MYOPATHY, GRANULOVACUOLAR LOBULAR, WITH ELECTRICAL MYOTONIA
OMIM:254960 MYOPATHY DUE TO MALATE-ASPARTATE SHUTTLE DEFECT
OMIM:255100 MYOPATHY WITH ABNORMAL LIPID METABOLISM
OMIM:255110 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
OMIM:255120 CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY
OMIM:255125 MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY; HML
OMIM:255140 MYOPATHY WITH GIANT ABNORMAL MITOCHONDRIA
OMIM:255160 MYOPATHY, HYALINE BODY, AUTOSOMAL RECESSIVE
OMIM:255200 MYOPATHY, CENTRONUCLEAR, 2; CNM2
OMIM:255300 MYOPATHY, CONGENITAL
OMIM:255310 MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD
OMIM:255320 MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
OMIM:255500 MYOPIA 18, AUTOSOMAL RECESSIVE; MYP18
OMIM:255600 MYOSCLEROSIS, AUTOSOMAL RECESSIVE
OMIM:255700 MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE
OMIM:255710 MYOTONIA WITH SKELETAL ABNORMALITIES AND MENTAL RETARDATION
OMIM:255800 SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1
OMIM:255900 MYXEDEMA
OMIM:255960 MYXOMA, INTRACARDIAC
OMIM:255980 NASODIGITOACOUSTIC SYNDROME
OMIM:255990 NATHALIE SYNDROME
OMIM:255995 NATIVE AMERICAN MYOPATHY; NAM
OMIM:256000 LEIGH SYNDROME; LS
OMIM:256020 NAIL-PATELLA-LIKE RENAL DISEASE
OMIM:256030 NEMALINE MYOPATHY 2; NEM2
OMIM:256040 AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME; ALDD
OMIM:256050 ATELOSTEOGENESIS, TYPE II; AOII
OMIM:256100 NEPHRONOPHTHISIS 1; NPHP1
OMIM:256120 NEPHROPATHY, DEAFNESS, AND HYPERPARATHYROIDISM
OMIM:256150 NEPHROSIALIDOSIS
OMIM:256200 NEPHROSIS WITH DEAFNESS AND URINARY TRACT AND DIGITAL MALFORMATIONS
OMIM:256300 NEPHROTIC SYNDROME, TYPE 1; NPHS1
OMIM:256370 NEPHROTIC SYNDROME, TYPE 4; NPHS4
OMIM:256450 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1
OMIM:256500 NETHERTON SYNDROME; NETH
OMIM:256520 NEU-LAXOVA SYNDROME; NLS
OMIM:256540 GALACTOSIALIDOSIS; GSL
OMIM:256550 NEURAMINIDASE DEFICIENCY
OMIM:256600 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A
OMIM:256690 NEUROFACIODIGITORENAL SYNDROME
OMIM:256700 NEUROBLASTOMA, SUSCEPTIBILITY TO
OMIM:256710 ELEJALDE DISEASE
OMIM:256720 NEUROLOGIC DISEASE, INFANTILE MULTISYSTEM, WITH OSSEOUS FRAGILITY
OMIM:256730 CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1
OMIM:256731 CEROID LIPOFUSCINOSIS, NEURONAL, 5; CLN5
OMIM:256800 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA
OMIM:256810 MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE); MTDPS6
OMIM:256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL
OMIM:256850 GIANT AXONAL NEUROPATHY 1; GAN1
OMIM:256860 NEUROPATHY, HEREDITARY SENSORY, ATYPICAL
OMIM:256870 NEUROPATHY, PAINFUL
OMIM:257100 NEUTROPENIA, LETHAL CONGENITAL, WITH EOSINOPHILIA
OMIM:257150 NEUTROPHIL ACTIN DYSFUNCTION; NAD
OMIM:257200 NIEMANN-PICK DISEASE, TYPE A
OMIM:257220 NIEMANN-PICK DISEASE, TYPE C1; NPC1
OMIM:257270 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B; CSNB1B
OMIM:257300 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1
OMIM:257320 LISSENCEPHALY 2; LIS2
OMIM:257350 NUCHAL BLEB, FAMILIAL
OMIM:257400 NYSTAGMUS, CONGENITAL, AUTOSOMAL RECESSIVE
OMIM:257500 OBESITY-HYPOVENTILATION SYNDROME
OMIM:257550 OCULAR MOTOR APRAXIA
OMIM:257600 OCULAR MYOPATHY WITH CURARE SENSITIVITY
OMIM:257790 OCULOCEREBRAL HYPOPIGMENTATION SYNDROME OF PREUS
OMIM:257800 OCULOCEREBRAL SYNDROME WITH HYPOPIGMENTATION
OMIM:257850 OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE
OMIM:257910 OCULOPALATOCEREBRAL SYNDROME
OMIM:257920 3MC SYNDROME 1; 3MC1
OMIM:257960 OCULOTRICHODYSPLASIA; OTD
OMIM:257970 OCULORENOCEREBELLAR SYNDROME
OMIM:257980 ODONTOONYCHODERMAL DYSPLASIA; OODD
OMIM:258040 OEIS COMPLEX
OMIM:258100 OGUCHI DISEASE 1
OMIM:258150 SPERMATOGENIC FAILURE 1; SPGF1
OMIM:258200 OLIVER SYNDROME
OMIM:258300 OLIVOPONTOCEREBELLAR ATROPHY II, AUTOSOMAL RECESSIVE
OMIM:258315 OMODYSPLASIA 1; OMOD1
OMIM:258320 OMPHALOCELE-CLEFT PALATE SYNDROME, LETHAL
OMIM:258360 ONYCHOTRICHODYSPLASIA AND NEUTROPENIA
OMIM:258400 OPHTHALMOPLEGIA TOTALIS WITH PTOSIS AND MIOSIS
OMIM:258450 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,
OMIM:258470 OPHTHALMOPLEGIC NEUROMUSCULAR DISORDER WITH ABNORMAL MITOCHONDRIA
OMIM:258480 OPSISMODYSPLASIA; OPSMD
OMIM:258500 OPTIC ATROPHY 6; OPA6
OMIM:258501 3-@METHYLGLUTACONIC ACIDURIA, TYPE III; MGCA3
OMIM:258650 OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMAL
OMIM:258660 NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO
OMIM:258700 OPTICOCOCHLEODENTATE DEGENERATION
OMIM:258800 ORAL SENSIBILITY, DISTURBANCE OF
OMIM:258840 ORAL AND DIGITAL ANOMALIES WITH ICHTHYOSIS
OMIM:258850 OROFACIODIGITAL SYNDROME III; OFD3
OMIM:258860 OROFACIODIGITAL SYNDROME IV; OFD4
OMIM:258865 OROFACIODIGITAL SYNDROME IX; OFD9
OMIM:258870 GYRATE ATROPHY OF CHOROID AND RETINA; GACR
OMIM:258900 OROTIC ACIDURIA
OMIM:259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND
OMIM:259100 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1
OMIM:259200 BLOUNT DISEASE, ADOLESCENT
OMIM:259250 OSTEODYSPLASIA, FAMILIAL, ANDERSON TYPE
OMIM:259270 OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI
OMIM:259410 OSTEOGENESIS IMPERFECTA CONGENITA, MICROCEPHALY, AND CATARACTS
OMIM:259420 OSTEOGENESIS IMPERFECTA, TYPE III
OMIM:259440 OSTEOGENESIS IMPERFECTA, TYPE IX; OI9
OMIM:259450 BRUCK SYNDROME 1; BRKS1
OMIM:259500 OSTEOGENIC SARCOMA
OMIM:259600 TORG-WINCHESTER SYNDROME
OMIM:259610 OSTEOLYSIS SYNDROME, RECESSIVE
OMIM:259650 OSTEOMA OF MIDDLE EAR
OMIM:259660 OSTEOMALACIA, SCLEROSING, WITH CEREBRAL CALCIFICATION
OMIM:259680 CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS; CRMO
OMIM:259690 OSTEOPENIA AND SPARSE HAIR
OMIM:259700 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1
OMIM:259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2
OMIM:259720 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5
OMIM:259730 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3
OMIM:259750 OSTEOPOROSIS, JUVENILE
OMIM:259770 OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; OPPG
OMIM:259775 RAINE SYNDROME; RNS
OMIM:259780 OTOONYCHOPERONEAL SYNDROME
OMIM:259900 HYPEROXALURIA, PRIMARY, TYPE I; HP1
OMIM:260000 HYPEROXALURIA, PRIMARY, TYPE II; HP2
OMIM:260005 5-@OXOPROLINASE DEFICIENCY; OPLAHD
OMIM:260100 PA POLYMORPHISM OF ALPHA-2-GLOBULIN
OMIM:260130 PACHYONYCHIA CONGENITA, AUTOSOMAL RECESSIVE
OMIM:260150 PALANT CLEFT PALATE SYNDROME
OMIM:260200 PALLIDAL DEGENERATION, PROGRESSIVE, WITH RETINITIS PIGMENTOSA
OMIM:260300 PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK15
OMIM:260350 PANCREATIC CANCER
OMIM:260370 PANCREATIC AGENESIS, CONGENITAL; PAGEN
OMIM:260400 SHWACHMAN-DIAMOND SYNDROME; SDS
OMIM:260450 PANCREATIC INSUFFICIENCY, COMBINED EXOCRINE
OMIM:260470 PANENCEPHALITIS, SUBACUTE SCLEROSING
OMIM:260480 PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX
OMIM:260500 PAPILLOMA OF CHOROID PLEXUS
OMIM:260530 PARANA HARD-SKIN SYNDROME
OMIM:260540 PARKINSON-DEMENTIA SYNDROME
OMIM:260555 PARTINGTON-ANDERSON SYNDROME
OMIM:260565 PEHO SYNDROME
OMIM:260570 PELGER-HUET-LIKE ANOMALY AND EPISODIC FEVER WITH ABDOMINAL PAIN
OMIM:260600 LEUKODYSTROPHY, HYPOMYELINATING, 3; HLD3
OMIM:260650 PELLAGRA-LIKE SYNDROME
OMIM:260660 COUSIN SYNDROME
OMIM:260800 PENTOSURIA
OMIM:260900 PERICARDIAL EFFUSION, CHRONIC
OMIM:260910 PERIFOLLICULITIS CAPITIS ABSCEDENS ET SUFFODIENS, FAMILIAL
OMIM:260920 HYPER-IgD SYNDROME; HIDS
OMIM:260950 PERIODONTITIS, CHRONIC
OMIM:260970 PERIPHERAL NEUROPATHY, ATAXIA, FOCAL NECROTIZING ENCEPHALOPATHY, AND
OMIM:261000 INTRINSIC FACTOR DEFICIENCY; IFD
OMIM:261100 MEGALOBLASTIC ANEMIA 1
OMIM:261400 PERONEUS TERTIUS MUSCLE, ABSENCE OF
OMIM:261515 D-BIFUNCTIONAL PROTEIN DEFICIENCY
OMIM:261540 PETERS-PLUS SYNDROME
OMIM:261550 PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II; PMDS
OMIM:261560 PFEIFFER-PALM-TELLER SYNDROME
OMIM:261575 PHAVER SYNDROME
OMIM:261590 PHENFORMIN 4-HYDROXYLATION
OMIM:261600 PHENYLKETONURIA; PKU
OMIM:261630 HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C
OMIM:261640 HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A
OMIM:261650 PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, MITOCHONDRIAL
OMIM:261670 GLYCOGEN STORAGE DISEASE X; GSD10
OMIM:261680 PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC
OMIM:261740 GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
OMIM:261750 GLYCOGEN STORAGE DISEASE IXb; GSD9B
OMIM:261800 PIERRE ROBIN SYNDROME
OMIM:261900 PILI TORTI, EARLY-ONSET
OMIM:261990 PILI TORTI AND DEVELOPMENTAL DELAY
OMIM:262000 BJORNSTAD SYNDROME; BJS
OMIM:262020 PILODENTAL DYSPLASIA WITH REFRACTIVE ERRORS
OMIM:262190 PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC
OMIM:262300 ACHROMATOPSIA 3; ACHM3
OMIM:262400 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA; IGHD1A
OMIM:262500 LARON SYNDROME
OMIM:262600 PITUITARY HORMONE DEFICIENCY, COMBINED, 2; CPHD2
OMIM:262650 KOWARSKI SYNDROME
OMIM:262700 PITUITARY HORMONE DEFICIENCY, COMBINED, 4; CPHD4
OMIM:262710 PITUITARY DWARFISM WITH LARGE SELLA TURCICA
OMIM:262800 PLASMA CLOT RETRACTION FACTOR, DEFICIENCY OF
OMIM:262850 ALPHA-2-PLASMIN INHIBITOR DEFICIENCY
OMIM:262875 PLATELET PROSTACYCLIN RECEPTOR DEFECT
OMIM:262890 SCOTT SYNDROME; SCTS
OMIM:262900 PLEOCONIAL MYOPATHY WITH SALT CRAVING
OMIM:263000 INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL; DIP
OMIM:263100 POLYCYSTIC KIDNEY, CATARACT, AND CONGENITAL BLINDNESS
OMIM:263200 POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD
OMIM:263210 POLYCYSTIC KIDNEY DISEASE, POTTER TYPE I, WITH MICROBRACHYCEPHALY,
OMIM:263300 POLYCYTHEMIA VERA
OMIM:263400 ERYTHROCYTOSIS, FAMILIAL, 2; ECYT2
OMIM:263450 POLYDACTYLY, POSTAXIAL, TYPE A5; PAPA5
OMIM:263510 SHORT RIB-POLYDACTYLY SYNDROME, TYPE III
OMIM:263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA
OMIM:263530 SHORT RIB-POLYDACTYLY SYNDROME, TYPE I; SRPS1
OMIM:263540 POLYDACTYLY, POSTAXIAL, WITH DENTAL AND VERTEBRAL ANOMALIES
OMIM:263550 POLYMYOCLONUS, INFANTILE
OMIM:263570 POLYGLUCOSAN BODY DISEASE, ADULT FORM; APBD
OMIM:263610 POLYHYDRAMNIOS, CHRONIC IDIOPATHIC
OMIM:263630 POLYSYNDACTYLY WITH CARDIAC MALFORMATION
OMIM:263650 POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE
OMIM:263700 PORPHYRIA, CONGENITAL ERYTHROPOIETIC
OMIM:263750 POSTAXIAL ACROFACIAL DYSOSTOSIS; POADS
OMIM:263800 GITELMAN SYNDROME
OMIM:264010 PRADER-WILLI HABITUS, OSTEOPENIA, AND CAMPTODACTYLY
OMIM:264050 PRENATAL BOWING
OMIM:264060 PREPAPILLARY VASCULAR LOOPS
OMIM:264070 HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D; HPABH4D
OMIM:264080 PROGESTERONE RESISTANCE
OMIM:264090 PROGEROID SYNDROME, NEONATAL
OMIM:264110 PROLACTIN DEFICIENCY, ISOLATED
OMIM:264120 PROLACTIN DEFICIENCY WITH OBESITY AND ENLARGED TESTES
OMIM:264140 PRUNE BELLY SYNDROME WITH PULMONIC STENOSIS, MENTAL RETARDATION, AND
OMIM:264180 PSEUDODIASTROPHIC DYSPLASIA
OMIM:264270 PSEUDOHERMAPHRODITISM, FEMALE, WITH SKELETAL ANOMALIES
OMIM:264300 17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY
OMIM:264350 PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE; PHA1B
OMIM:264420 FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, RECESSIVE FORM
OMIM:264470 PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY
OMIM:264475 PSEUDOPAPILLEDEMA, OCULAR HYPOTELORISM, BLEPHAROPHIMOSIS, AND HAND
OMIM:264480 PSEUDOTRISOMY 13 SYNDROME
OMIM:264500 PSEUDOURIDINURIA AND MENTAL DEFECT
OMIM:264600 PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH
OMIM:264700 VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A; VDDR1A
OMIM:264800 PSEUDOXANTHOMA ELASTICUM; PXE
OMIM:265000 MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS
OMIM:265050 3MC SYNDROME 2; 3MC2
OMIM:265100 PULMONARY ALVEOLAR MICROLITHIASIS
OMIM:265120 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1; SMDP1
OMIM:265140 PULMONARY ARTERIOVENOUS FISTULAS
OMIM:265150 PULMONARY ATRESIA WITH INTACT VENTRICULAR SEPTUM
OMIM:265200 PULMONARY BULLAE CAUSING PNEUMOTHORAX
OMIM:265300 LYMPHANGIECTASIA, PULMONARY, CONGENITAL; CPL
OMIM:265380 ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS;
OMIM:265400 PULMONARY HYPERTENSION, PRIMARY, AUTOSOMAL RECESSIVE
OMIM:265430 LUNG AGENESIS
OMIM:265450 PULMONARY VENOOCCLUSIVE DISEASE; PVOD
OMIM:265500 PULMONIC STENOSIS
OMIM:265800 PYCNODYSOSTOSIS
OMIM:265850 PYGMY
OMIM:265880 PYKNOACHONDROGENESIS
OMIM:265900 PYLE DISEASE
OMIM:265950 PYLORIC ATRESIA
OMIM:266100 EPILEPSY, PYRIDOXINE-DEPENDENT; EPD
OMIM:266120 URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA
OMIM:266130 GLUTATHIONE SYNTHETASE DEFICIENCY; GSSD
OMIM:266140 PYROPOIKILOCYTOSIS, HEREDITARY; HPP
OMIM:266150 PYRUVATE CARBOXYLASE DEFICIENCY
OMIM:266200 PYRUVATE KINASE DEFICIENCY OF RED CELLS
OMIM:266250 RADICULONEUROPATHY, FATAL NEONATAL
OMIM:266255 RADIOULNAR SYNOSTOSIS, UNILATERAL, WITH DEVELOPMENTAL RETARDATION
OMIM:266265 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C
OMIM:266270 RAMON SYNDROME
OMIM:266280 RAPADILINO SYNDROME
OMIM:266300 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2; SHEP2
OMIM:266350 RED SKIN PIGMENT ANOMALY OF NEW GUINEA
OMIM:266400 REESE RETINAL DYSPLASIA
OMIM:266500 REFSUM DISEASE, CLASSIC
OMIM:266510 PEROXISOME BIOGENESIS DISORDER 3B; PBD3B
OMIM:266600 INFLAMMATORY BOWEL DISEASE 1; IBD1
OMIM:266810 RENAL AND MULLERIAN DUCT HYPOPLASIA
OMIM:266900 SENIOR-LOKEN SYNDROME 1; SLSN1
OMIM:266910 RENAL DYSPLASIA-LIMB DEFECTS SYNDROME
OMIM:266920 MAINZER-SALDINO SYNDROME; MZSDS
OMIM:267000 PERLMAN SYNDROME; PRLMNS
OMIM:267010 MECKEL SYNDROME, TYPE 7; MKS7
OMIM:267200 RENAL TUBULAR ACIDOSIS III
OMIM:267300 RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS
OMIM:267400 RENAL, GENITAL, AND MIDDLE EAR ANOMALIES
OMIM:267430 RENAL TUBULAR DYSGENESIS; RTD
OMIM:267450 RESPIRATORY DISTRESS SYNDROME IN PREMATURE INFANTS
OMIM:267480 RESPIRATORY UNDERRESPONSIVENESS TO HYPOXIA AND HYPERCAPNIA
OMIM:267500 RETICULAR DYSGENESIS
OMIM:267700 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1
OMIM:267730 RETICULUM CELL SARCOMA
OMIM:267740 RETINAL DEGENERATION AND EPILEPSY
OMIM:267750 KNOBLOCH SYNDROME 1; KNO1
OMIM:267760 RETINAL DEGENERATION WITH NANOPHTHALMOS, CYSTIC MACULAR DEGENERATION,
OMIM:267800 RETINAL DYSTROPHY, RETICULAR PIGMENTARY, OF POSTERIOR POLE
OMIM:267900 RETINAL TELANGIECTASIA AND HYPOGAMMAGLOBULINEMIA
OMIM:268000 RETINITIS PIGMENTOSA; RP
OMIM:268010 RETINITIS PIGMENTOSA INVERSA WITH DEAFNESS
OMIM:268020 RETINITIS PIGMENTOSA, DEAFNESS, MENTAL RETARDATION, AND HYPOGONADISM
OMIM:268025 RETINITIS PIGMENTOSA, LATE-ADULT ONSET
OMIM:268040 RETINOHEPATOENDOCRINOLOGIC SYNDROME
OMIM:268050 RETINOPATHY, PIGMENTARY, AND MENTAL RETARDATION
OMIM:268060 RETINOPATHY, PERICENTRAL PIGMENTARY, AUTOSOMAL RECESSIVE
OMIM:268080 RETINOSCHISIS OF FOVEA
OMIM:268100 ENHANCED S-CONE SYNDROME; ESCS
OMIM:268130 REVESZ SYNDROME
OMIM:268150 RH-NULL, REGULATOR TYPE; RHN
OMIM:268200 MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE
OMIM:268210 RHABDOMYOSARCOMA 1; RMS1
OMIM:268220 RHABDOMYOSARCOMA 2; RMS2
OMIM:268240 RHEUMATIC FEVER-RELATED ANTIGEN
OMIM:268250 RHIZOMELIC SYNDROME
OMIM:268300 ROBERTS SYNDROME; RBS
OMIM:268305 ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES
OMIM:268310 ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS
OMIM:268320 RODRIGUES BLINDNESS
OMIM:268400 ROTHMUND-THOMSON SYNDROME; RTS
OMIM:268500 ROWLEY-ROSENBERG SYNDROME
OMIM:268650 RUDIGER SYNDROME
OMIM:268700 SACCHAROPINURIA
OMIM:268800 SANDHOFF DISEASE
OMIM:268850 RICHIERI-COSTA/GUION-ALMEIDA SYNDROME
OMIM:268900 SARCOSINEMIA; SARCOS
OMIM:269000 SC PHOCOMELIA SYNDROME
OMIM:269150 SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME
OMIM:269160 SCHIZENCEPHALY
OMIM:269200 AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE II; APS2
OMIM:269250 SCHNECKENBECKEN DYSPLASIA
OMIM:269300 SCHWARTZ-LELEK SYNDROME
OMIM:269400 SCLEROCORNEA, AUTOSOMAL RECESSIVE
OMIM:269500 SCLEROSTEOSIS 1; SOST1
OMIM:269600 SEA-BLUE HISTIOCYTE DISEASE
OMIM:269630 SECOND METATARSAL-METACARPAL SYNDROME
OMIM:269650 SECRETORY COMPONENT DEFICIENCY
OMIM:269700 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2
OMIM:269720 SEIZURES, BENIGN FAMILIAL NEONATAL, AUTOSOMAL RECESSIVE
OMIM:269800 SENILE PLAQUE FORMATION
OMIM:269840 SELECTIVE T-CELL DEFECT; STCD
OMIM:269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV
OMIM:269870 SHORT STATURE-OBESITY SYNDROME; SSOS
OMIM:269880 SHORT SYNDROME
OMIM:269920 INFANTILE SIALIC ACID STORAGE DISORDER
OMIM:269921 SIALURIA
OMIM:270100 HETEROTAXY, VISCERAL, 5, AUTOSOMAL; HTX5
OMIM:270150 SJOGREN SYNDROME
OMIM:270200 SJOGREN-LARSSON SYNDROME; SLS
OMIM:270220 SJOGREN-LARSSON-LIKE ICHTHYOSIS WITHOUT CNS OR EYE INVOLVEMENT
OMIM:270300 PEELING SKIN SYNDROME
OMIM:270350 SKUNK N-BUTYLMERCAPTAN, INABILITY TO SMELL
OMIM:270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS
OMIM:270420 DIARRHEA 3, SECRETORY SODIUM, CONGENITAL; DIAR3
OMIM:270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO
OMIM:270460 SONODA SYNDROME
OMIM:270500 ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC
OMIM:270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS
OMIM:270600 SPASTIC DIPLEGIA, INFANTILE TYPE
OMIM:270685 SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT; SPG17
OMIM:270700 SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE; SPG15
OMIM:270710 FITZSIMMONS-GUILBERT SYNDROME
OMIM:270750 SPASTIC PARAPLEGIA 23; SPG23
OMIM:270800 SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A
OMIM:270850 SPASTIC PARESIS, GLAUCOMA, AND MENTAL RETARDATION
OMIM:270950 SPASTIC QUADRIPLEGIA, RETINITIS PIGMENTOSA, AND MENTAL RETARDATION
OMIM:270960 SPERMATOGENIC FAILURE 4; SPGF4
OMIM:270970 SPHEROCYTOSIS, TYPE 3; SPH3
OMIM:271109 SPINAL MUSCULAR ATROPHY WITH MENTAL RETARDATION
OMIM:271110 SPINAL MUSCULAR ATROPHY WITH MICROCEPHALY AND MENTAL SUBNORMALITY
OMIM:271150 SPINAL MUSCULAR ATROPHY, TYPE IV; SMA4
OMIM:271200 SPINAL MUSCULAR ATROPHY, RYUKYUAN TYPE
OMIM:271220 SPINAL MUSCULAR ATROPHY, SCAPULOPERONEAL
OMIM:271225 SPINAL MUSCULAR ATROPHY, TYPE I, WITH CONGENITAL BONE FRACTURES
OMIM:271245 MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE); MTDPS7
OMIM:271250 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3; SCAR3
OMIM:271270 SPINOCEREBELLAR ATAXIA WITH DYSMORPHISM
OMIM:271310 SPINOCEREBELLAR DEGENERATION AND CORNEAL DYSTROPHY
OMIM:271320 SPINOCEREBELLAR DEGENERATION WITH MACULAR CORNEAL DYSTROPHY, CONGENITAL
OMIM:271322 SPINOCEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS; SDSEM
OMIM:271400 ASPLENIA, ISOLATED CONGENITAL; ICAS
OMIM:271500 SPLENOPORTAL VASCULAR ANOMALIES
OMIM:271510 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE
OMIM:271520 SPONDYLOCOSTAL DYSOSTOSIS WITH ANAL ATRESIA AND UROGENITAL ANOMALIES
OMIM:271530 BRACHYOLMIA TYPE 1, HOBAEK TYPE
OMIM:271550 SPONDYLOENCHONDRODYSPLASIA; SPENCD
OMIM:271600 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE
OMIM:271620 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH MENTAL RETARDATION
OMIM:271630 BRACHYOLMIA TYPE 1, TOLEDO TYPE
OMIM:271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1; SEMDJL1
OMIM:271650 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, IRAPA TYPE; SEMDIT
OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
OMIM:271700 SPONDYLOPERIPHERAL DYSPLASIA
OMIM:271900 CANAVAN DISEASE
OMIM:271930 STRIATONIGRAL DEGENERATION, INFANTILE; SNDI
OMIM:271950 SUBAORTIC STENOSIS, MEMBRANOUS
OMIM:271960 SUBAORTIC STENOSIS--SHORT STATURE SYNDROME
OMIM:271980 SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; SSADHD
OMIM:272000 SUCROSURIA, HIATUS HERNIA AND MENTAL RETARDATION
OMIM:272100 SUDANOPHILIC CEREBRAL SCLEROSIS
OMIM:272120 SUDDEN INFANT DEATH SYNDROME
OMIM:272150 SUGARMAN BRACHYDACTYLY
OMIM:272200 MULTIPLE SULFATASE DEFICIENCY; MSD
OMIM:272300 SULFOCYSTEINURIA
OMIM:272350 SUMMITT SYNDROME
OMIM:272370 SUSCEPTIBILITY TO LYSIS BY ALLOREACTIVE NATURAL KILLER CELLS; EC1
OMIM:272430 COLD-INDUCED SWEATING SYNDROME 1; CISS1
OMIM:272440 SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION
OMIM:272450 SYNDESMODYSPLASIC DWARFISM
OMIM:272460 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME; SCT
OMIM:272600 TAPETORETINAL DEGENERATION WITH ATAXIA
OMIM:272650 TATSUMI FACTOR DEFICIENCY
OMIM:272700 TAURODONTISM
OMIM:272750 GM2-GANGLIOSIDOSIS, AB VARIANT
OMIM:272800 TAY-SACHS DISEASE; TSD
OMIM:272950 TEEBI-SHALTOUT SYNDROME
OMIM:272980 TEETH, CONGENITAL ABSENCE OF, WITH TAURODONTIA AND SPARSE HAIR
OMIM:273000 TEETH, FUSED
OMIM:273050 TEETH, NONERUPTION OF, WITH MAXILLARY HYPOPLASIA AND GENU VALGUM
OMIM:273120 TERATOMA, PINEAL
OMIM:273150 TESTES, RUDIMENTARY
OMIM:273250 TESTICULAR REGRESSION SYNDROME; TRS
OMIM:273300 TESTICULAR GERM CELL TUMOR; TGCT
OMIM:273390 TETRAAMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT ABNORMALITIES
OMIM:273395 TETRAAMELIA, AUTOSOMAL RECESSIVE
OMIM:273400 TETRAMELIC DEFICIENCIES, ECTODERMAL DYSPLASIA, DEFORMED EARS, AND
OMIM:273490 THALAMIC DEGENERATION, SYMMETRIC INFANTILE
OMIM:273600 THALIDOMIDE SUSCEPTIBILITY
OMIM:273680 THANATOPHORIC DYSPLASIA, GLASGOW VARIANT
OMIM:273730 THORACIC DYSPLASIA-HYDROCEPHALUS SYNDROME
OMIM:273740 THORACOMELIC DYSPLASIA
OMIM:273750 THREE M SYNDROME 1; 3M1
OMIM:273770 THREONINEMIA
OMIM:273800 GLANZMANN THROMBASTHENIA; GT
OMIM:273900 THROMBOCYTOPENIA 3; THC3
OMIM:274000 THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR
OMIM:274150 THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL; TTP
OMIM:274190 THUMB AGENESIS, SHORT STATURE, AND IMMUNODEFICIENCY
OMIM:274200 THUMB, DISTAL HYPEREXTENSIBILITY OF
OMIM:274205 THUMB, HYPOPLASTIC, WITH CHOROID COLOBOMA, POORLY DEVELOPED ANTIHELIX,
OMIM:274210 THYMIC APLASIA WITH FETAL DEATH
OMIM:274230 THYMOMA, FAMILIAL
OMIM:274240 THYROCEREBRORETINAL SYNDROME
OMIM:274265 THYMIC-RENAL-ANAL-LUNG DYSPLASIA
OMIM:274270 DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY
OMIM:274300 THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; GRTH
OMIM:274400 THYROID DYSHORMONOGENESIS 1; TDH1
OMIM:274500 THYROID DYSHORMONOGENESIS 2A; TDH2A
OMIM:274600 PENDRED SYNDROME; PDS
OMIM:274700 THYROID DYSHORMONOGENESIS 3; TDH3
OMIM:274800 THYROID DYSHORMONOGENESIS 4; TDH4
OMIM:274900 THYROID DYSHORMONOGENESIS 5; TDH5
OMIM:275000 GRAVES DISEASE
OMIM:275100 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4; CHNG4
OMIM:275120 THYROTROPIN-RELEASING HORMONE DEFICIENCY
OMIM:275190 TIGLIC ACIDEMIA
OMIM:275200 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1
OMIM:275210 RESTRICTIVE DERMOPATHY, LETHAL
OMIM:275230 TIBIA, ABSENCE OF, WITH CONGENITAL DEAFNESS
OMIM:275240 TINEA IMBRICATA, SUSCEPTIBILITY TO
OMIM:275250 TONGUE, PIGMENTED FUNGIFORM PAPILLAE OF
OMIM:275300 TRACHEOBRONCHOMEGALY
OMIM:275350 TRANSCOBALAMIN II DEFICIENCY
OMIM:275355 SQUAMOUS CELL CARCINOMA, HEAD AND NECK; HNSCC
OMIM:275370 TRICARBOXYLIC ACID CYCLE, DEFECT OF
OMIM:275400 TRICHOMEGALY WITH MENTAL RETARDATION, DWARFISM, AND PIGMENTARY DEGENERATION
OMIM:275450 TRICHOODONTOONYCHIAL DYSPLASIA WITH BONE DEFICIENCY
OMIM:275550 TRICHORRHEXIS NODOSA SYNDROME
OMIM:275595 TRIGONOBRACHYCEPHALY, BULBOUS BIFID NOSE, MICROGNATHIA, AND ABNORMALITIES
OMIM:275630 CHANARIN-DORFMAN SYNDROME; CDS
OMIM:275900 SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20
OMIM:276100 TRYPTOPHANURIA WITH DWARFISM
OMIM:276200 T-SUBSTANCE ANOMALY
OMIM:276300 MISMATCH REPAIR CANCER SYNDROME; MMRCS
OMIM:276600 TYROSINEMIA, TYPE II
OMIM:276700 TYROSINEMIA, TYPE I
OMIM:276710 TYROSINEMIA, TYPE III
OMIM:276800 TYROSINOSIS
OMIM:276820 ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY
OMIM:276821 ULNAR HYPOPLASIA WITH MENTAL RETARDATION
OMIM:276822 ULNAR AGENESIS AND ENDOCARDIAL FIBROELASTOSIS
OMIM:276880 UROCANASE DEFICIENCY
OMIM:276900 USHER SYNDROME, TYPE I; USH1
OMIM:276901 USHER SYNDROME, TYPE IIA; USH2A
OMIM:276902 USHER SYNDROME, TYPE IIIA; USH3A
OMIM:276904 USHER SYNDROME, TYPE IC; USH1C
OMIM:276950 VACTERL ASSOCIATION WITH HYDROCEPHALUS
OMIM:277000 MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME
OMIM:277100 VALINEMIA
OMIM:277150 VAN BOGAERT-HOZAY SYNDROME
OMIM:277170 OROFACIODIGITAL SYNDROME VI; OFD6
OMIM:277175 VASCULAR HYALINOSIS
OMIM:277180 VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD
OMIM:277200 RIGHT VENTRICULAR HYPOPLASIA, ISOLATED
OMIM:277300 SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE; SCDO1
OMIM:277320 VISCERAL MYOPATHY, FAMILIAL, WITH EXTERNAL OPHTHALMOPLEGIA
OMIM:277350 HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL RECESSIVE
OMIM:277380 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE
OMIM:277400 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
OMIM:277410 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE
OMIM:277440 VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A
OMIM:277450 VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1; VKCFD1
OMIM:277460 VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF; VED
OMIM:277465 VITILIGO, PROGRESSIVE, WITH MENTAL RETARDATION AND URETHRAL DUPLICATION
OMIM:277470 PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A
OMIM:277480 VON WILLEBRAND DISEASE, TYPE 3; VWD3
OMIM:277580 WAARDENBURG SYNDROME, TYPE 4A; WS4A
OMIM:277590 WEAVER SYNDROME 1; WVS1
OMIM:277600 WEILL-MARCHESANI SYNDROME 1; WMS1
OMIM:277610 WEISSENBACHER-ZWEYMULLER SYNDROME; WZS
OMIM:277700 WERNER SYNDROME; WRN
OMIM:277720 WHISTLING FACE SYNDROME, RECESSIVE FORM
OMIM:277730 WERNICKE-KORSAKOFF SYNDROME
OMIM:277740 WHITE FORELOCK WITH MALFORMATIONS
OMIM:277900 WILSON DISEASE
OMIM:277970 WISKOTT-ALDRICH SYNDROME
OMIM:277990 WOLFF MENTAL RETARDATION SYNDROME
OMIM:278000 LYSOSOMAL ACID LIPASE DEFICIENCY
OMIM:278100 WOLMAN DISEASE WITH HYPOLIPOPROTEINEMIA AND ACANTHOCYTOSIS
OMIM:278150 HYPOTRICHOSIS 8; HYPT8
OMIM:278200 WOOLLY HAIR, HYPOTRICHOSIS, EVERTED LOWER LIP, AND OUTSTANDING EARS
OMIM:278250 WRINKLY SKIN SYNDROME; WSS
OMIM:278300 XANTHINURIA, TYPE I
OMIM:278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
OMIM:278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
OMIM:278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD
OMIM:278740 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
OMIM:278750 XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV
OMIM:278760 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF
OMIM:278780 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG
OMIM:278800 DE SANCTIS-CACCHIONE SYNDROME
OMIM:278850 46,XX SEX REVERSAL 2; SRXX2
OMIM:278900 XYLOSIDASE DEFICIENCY
OMIM:279000 YOUNG SYNDROME
OMIM:280000 COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL
OMIM:300000 OPITZ GBBB SYNDROME, X-LINKED
OMIM:300004 CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA
OMIM:300009 DENT DISEASE 1
OMIM:300018 46,XY SEX REVERSAL 2; SRXY2
OMIM:300029 RETINITIS PIGMENTOSA 3; RP3
OMIM:300030 DEAFNESS, X-LINKED 3; DFNX3
OMIM:300042 ALOPECIA, CONGENITAL
OMIM:300046 MENTAL RETARDATION, X-LINKED 23; MRX23
OMIM:300047 MENTAL RETARDATION, X-LINKED 20; MRX20
OMIM:300048 INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED
OMIM:300049 HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT
OMIM:300055 MENTAL RETARDATION, X-LINKED, SYNDROMIC 13; MRXS13
OMIM:300062 MENTAL RETARDATION, X-LINKED 14; MRX14
OMIM:300064 MENTAL RETARDATION, X-LINKED, WITH CRANIOFACIAL DYSMORPHISM
OMIM:300066 DEAFNESS, X-LINKED 4; DFNX4
OMIM:300067 LISSENCEPHALY, X-LINKED, 1; LISX1
OMIM:300068 ANDROGEN INSENSITIVITY SYNDROME; AIS
OMIM:300071 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A; CSNB2A
OMIM:300073 FETAL AKINESIA SYNDROME, X-LINKED
OMIM:300076 IMMUNONEUROLOGIC DISORDER, X-LINKED
OMIM:300085 CONE-ROD DYSTROPHY, X-LINKED, 2; CORDX2
OMIM:300087 X INACTIVATION, FAMILIAL SKEWED, 1; SXI1
OMIM:300088 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9; EIEE9
OMIM:300100 ADRENOLEUKODYSTROPHY; ALD
OMIM:300106 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED
OMIM:300114 MENTAL RETARDATION, X-LINKED 49; MRX49
OMIM:300115 MENTAL RETARDATION, X-LINKED 50; MRX50
OMIM:300123 MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISM
OMIM:300125 MIGRAINE, FAMILIAL TYPICAL, SUSCEPTIBILITY TO, 2
OMIM:300143 MENTAL RETARDATION, X-LINKED 21; MRX21
OMIM:300147 PROSTATE CANCER, HEREDITARY, X-LINKED 1; HPCX1
OMIM:300148 MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM,
OMIM:300155 RETINITIS PIGMENTOSA 24; RP24
OMIM:300158 ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED; ACLLX
OMIM:300166 MICROPHTHALMIA, SYNDROMIC 2; MCOPS2
OMIM:300194 AMME COMPLEX
OMIM:300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC
OMIM:300209 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2
OMIM:300210 MENTAL RETARDATION, X-LINKED 58; MRX58
OMIM:300211 EPISODIC MUSCLE WEAKNESS, X-LINKED; EMWX
OMIM:300215 LISSENCEPHALY, X-LINKED, 2; LISX2
OMIM:300216 COATS DISEASE
OMIM:300218 MENTAL RETARDATION, X-LINKED, SYNDROMIC 7; MRXS7
OMIM:300220 MENTAL RETARDATION, X-LINKED, SYNDROMIC 10; MRXS10
OMIM:300228 TESTICULAR GERM CELL TUMOR 1; TGCT1
OMIM:300232 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH MENTAL DETERIORATION
OMIM:300238 MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11
OMIM:300240 HOYERAAL-HREIDARSSON SYNDROME; HHS
OMIM:300243 MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; MRXSCH
OMIM:300244 TERMINAL OSSEOUS DYSPLASIA; TOD
OMIM:300245 PTOSIS, HEREDITARY CONGENITAL 2
OMIM:300257 DANON DISEASE
OMIM:300258 ROIFMAN SYNDROME
OMIM:300260 LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL
OMIM:300261 ARMFIELD X-LINKED MENTAL RETARDATION SYNDROME; MRXSA
OMIM:300262 ABIDI X-LINKED MENTAL RETARDATION SYNDROME; MRXSAB
OMIM:300263 SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; MRXSSD
OMIM:300266 SPASTIC PARAPLEGIA 16, X-LINKED; SPG16
OMIM:300270 ADRENOMYODYSTROPHY
OMIM:300271 MENTAL RETARDATION, X-LINKED 72; MRX72
OMIM:300273 GOITER, MULTINODULAR 2; MNG2
OMIM:300280 URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME
OMIM:300291 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY
OMIM:300299 NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; SCNX
OMIM:300301 ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS,
OMIM:300310 AGAMMAGLOBULINEMIA, X-LINKED, TYPE 2; AGMX2
OMIM:300321 FG SYNDROME 2; FGS2
OMIM:300322 LESCH-NYHAN SYNDROME; LNS
OMIM:300323 KELLEY-SEEGMILLER SYNDROME
OMIM:300331 THROMBOCYTHEMIA, X-LINKED; THCYTX
OMIM:300337 HYPOMELANOSIS OF ITO; HMI
OMIM:300352 CREATINE DEFICIENCY SYNDROME, X-LINKED
OMIM:300354 MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND
OMIM:300355 MENTAL RETARDATION, X-LINKED 73; MRX73
OMIM:300360 MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE
OMIM:300367 THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA;
OMIM:300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS
OMIM:300376 MUSCULAR DYSTROPHY, BECKER TYPE; BMD
OMIM:300387 MENTAL RETARDATION, X-LINKED 63; MRX63
OMIM:300388 POLYMICROGYRIA, BILATERAL PERISYLVIAN; BPP
OMIM:300400 SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1
OMIM:300419 MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED;
OMIM:300421 WITTWER SYNDROME
OMIM:300422 FG SYNDROME 4; FGS4
OMIM:300423 MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH
OMIM:300425 AUTISM, SUSCEPTIBILITY TO, X-LINKED 1; AUTSX1
OMIM:300431 ATKIN-FLAITZ SYNDROME
OMIM:300434 STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME
OMIM:300436 MENTAL RETARDATION, X-LINKED 46; MRX46
OMIM:300438 17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY
OMIM:300448 ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS
OMIM:300455 RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH
OMIM:300471 CUBITUS VALGUS WITH MENTAL RETARDATION AND UNUSUAL FACIES
OMIM:300472 CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA,
OMIM:300476 CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3
OMIM:300484 OROFACIODIGITAL SYNDROME VIII; OFD8
OMIM:300486 MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE
OMIM:300488 MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 1; MENOQ1
OMIM:300489 SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3; SMAX3
OMIM:300491 EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR
OMIM:300494 ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1; ASPGX1
OMIM:300495 AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2
OMIM:300496 AUTISM, SUSCEPTIBILITY TO, X-LINKED 3; AUTSX3
OMIM:300497 ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2; ASPGX2
OMIM:300498 MENTAL RETARDATION, X-LINKED 45; MRX45
OMIM:300500 ALBINISM, OCULAR, TYPE I; OA1
OMIM:300510 OVARIAN DYSGENESIS 2; ODG2
OMIM:300511 PREMATURE OVARIAN FAILURE 2A; POF2A
OMIM:300519 MENTAL RETARDATION, X-LINKED, SYNDROMIC, MARTIN-PROBST TYPE; MRXSMP
OMIM:300523 ALLAN-HERNDON-DUDLEY SYNDROME; AHDS
OMIM:300534 MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ
OMIM:300537 HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT
OMIM:300539 NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS; NSIAD
OMIM:300554 HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE
OMIM:300555 DENT DISEASE 2
OMIM:300558 MENTAL RETARDATION, X-LINKED 30; MRX30
OMIM:300559 GLYCOGEN STORAGE DISEASE, TYPE IXd; GSD9D
OMIM:300571 HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE
OMIM:300577 MENTAL RETARDATION, X-LINKED 91; MRX91
OMIM:300578 CHROMOSOME Xp11.3 DELETION SYNDROME
OMIM:300580 MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION, X-LINKED; CFTDX
OMIM:300582 SHORT STATURE, IDIOPATHIC, X-LINKED; ISS
OMIM:300584 IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA
OMIM:300589 NYSTAGMUS 5, CONGENITAL, X-LINKED; NYS5
OMIM:300590 CORNELIA DE LANGE SYNDROME 2; CDLS2
OMIM:300600 ALAND ISLAND EYE DISEASE; AIED
OMIM:300602 CLARK-BARAITSER SYNDROME
OMIM:300604 PREMATURE OVARIAN FAILURE 2B; POF2B
OMIM:300607 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8; EIEE8
OMIM:300612 BROOKS-WISNIEWSKI-BROWN SYNDROME
OMIM:300614 DEAFNESS, X-LINKED 5; DFNX5
OMIM:300615 BRUNNER SYNDROME
OMIM:300619 CATARACT, ATAXIA, SHORT STATURE, AND MENTAL RETARDATION
OMIM:300622 TN POLYAGGLUTINATION SYNDROME; TNPS
OMIM:300623 FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS
OMIM:300624 FRAGILE X MENTAL RETARDATION SYNDROME
OMIM:300630 MENTAL RETARDATION, X-LINKED, SYNDROMIC, FRIED TYPE; MRXSF
OMIM:300633 HYPOSPADIAS 1, X-LINKED; HYSP1
OMIM:300635 LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2; XLP2
OMIM:300640 INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2; IPD2
OMIM:300643 ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED;
OMIM:300645 ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 2; AMCBX2
OMIM:300650 ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS; OASD
OMIM:300652 ANGIOMA SERPIGINOSUM, X-LINKED
OMIM:300653 PHOSPHOGLYCERATE KINASE 1 DEFICIENCY
OMIM:300659 MENTAL RETARDATION, X-LINKED 93; MRX93
OMIM:300660 LEUKOENCEPHALOPATHY WITH METAPHYSEAL CHONDRODYSPLASIA; LKMCD
OMIM:300661 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY
OMIM:300672 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2; EIEE2
OMIM:300673 ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
OMIM:300676 MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14
OMIM:300695 SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM
OMIM:300696 MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY; XMPMA
OMIM:300699 MENTAL RETARDATION, X-LINKED, SYNDROMIC, WU TYPE; MRXSW
OMIM:300700 ALBINISM-DEAFNESS SYNDROME; ADFN
OMIM:300703 SPINOCEREBELLAR ATAXIA, X-LINKED 5; SCAX5
OMIM:300705 MENTAL RETARDATION, X-LINKED 17; MRX17
OMIM:300706 MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE; MRXST
OMIM:300707 TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS;
OMIM:300709 MENTAL RETARDATION, X-LINKED, SYNDROMIC 9; MRXS9
OMIM:300712 CRANIOFACIOSKELETAL SYNDROME
OMIM:300716 MENTAL RETARDATION, X-LINKED 95; MRX95
OMIM:300717 MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE
OMIM:300718 MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET
OMIM:300719 DEAFNESS, CATARACT, RETINITIS PIGMENTOSA, AND SPERM ABNORMALITIES
OMIM:300749 MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA;
OMIM:300750 SPASTIC PARAPLEGIA 34, X-LINKED; SPG34
OMIM:300751 ANEMIA, SIDEROBLASTIC, X-LINKED; XLSA
OMIM:300752 PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED; XLEPP
OMIM:300755 AGAMMAGLOBULINEMIA, X-LINKED; XLA
OMIM:300758 HYPOSPADIAS 2, X-LINKED; HYSP2
OMIM:300770 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4
OMIM:300799 MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE; MRXSR
OMIM:300801 CHROMOSOME Xp11.23-p11.22 DUPLICATION SYNDROME
OMIM:300802 MENTAL RETARDATION, X-LINKED 96; MRX96
OMIM:300803 MENTAL RETARDATION, X-LINKED 97; MRX97
OMIM:300804 JOUBERT SYNDROME 10; JBTS10
OMIM:300807 THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8
OMIM:300814 NYSTAGMUS 6, CONGENITAL, X-LINKED; NYS6
OMIM:300816 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6; COXPD6
OMIM:300818 PAROXYSMAL NOCTURNAL HEMOGLOBINURIA; PNH
OMIM:300831 CK SYNDROME
OMIM:300833 46,XX SEX REVERSAL 3; SRXX3
OMIM:300834 MACULAR DEGENERATION, X-LINKED ATROPHIC
OMIM:300835 ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES;
OMIM:300842 MCLEOD SYNDROME; MCLDS
OMIM:300843 BORNHOLM EYE DISEASE; BED
OMIM:300844 MENTAL RETARDATION, X-LINKED 19; MRX19
OMIM:300845 MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM,
OMIM:300848 MENTAL RETARDATION, X-LINKED 89; MRX89
OMIM:300849 MENTAL RETARDATION, X-LINKED 41; MRX41
OMIM:300850 MENTAL RETARDATION, X-LINKED 90; MRX90
OMIM:300851 MENTAL RETARDATION, X-LINKED 92; MRX92
OMIM:300853 IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS
OMIM:300854 RENAL CELL CARCINOMA, Xp11-ASSOCIATED; RCCX1
OMIM:300855 OGDEN SYNDROME; OGDNS
OMIM:300857 AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA;
OMIM:300858 MENTAL RETARDATION, X-LINKED, SYNDROMIC 17; MRXS17
OMIM:300860 MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN
OMIM:300861 MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHUDLEY-SCHWARTZ TYPE; MRXSCS
OMIM:300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY,
OMIM:300864 CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED
OMIM:300867 KABUKI SYNDROME 2; KABUK2
OMIM:300868 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2; MCAHS2
OMIM:300869 CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME
OMIM:300872 EPSILON-TRIMETHYLLYSINE HYDROXYLASE DEFICIENCY; TMLHED
OMIM:300881 BARATELA-SCOTT SYNDROME
OMIM:300882 CORNELIA DE LANGE SYNDROME 5; CDLS5
OMIM:300884 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Is; CDG1S
OMIM:300886 MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32
OMIM:300887 APLASIA CUTIS CONGENITA, RETICULOLINEAR, WITH MICROCEPHALY, FACIAL
OMIM:300894 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5
OMIM:301000 WISKOTT-ALDRICH SYNDROME; WAS
OMIM:301040 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX
OMIM:301050 ALPORT SYNDROME, X-LINKED; ATS
OMIM:301200 AMELOGENESIS IMPERFECTA, TYPE IE; AI1E
OMIM:301201 AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 2
OMIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS; PDR
OMIM:301310 ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; ASAT
OMIM:301410 NEURAL TUBE DEFECTS, X-LINKED
OMIM:301500 FABRY DISEASE
OMIM:301590 MICROPHTHALMIA, SYNDROMIC 4; MCOPS4
OMIM:301700 ANOSMIA
OMIM:301790 SPINOCEREBELLAR ATAXIA, X-LINKED 3
OMIM:301800 ANUS, IMPERFORATE
OMIM:301815 ARTHROGRYPOSIS, ECTODERMAL DYSPLASIA, CLEFT LIP/PALATE, AND DEVELOPMENTAL
OMIM:301830 SPINAL MUSCULAR ATROPHY, X-LINKED 2; SMAX2
OMIM:301835 ARTS SYNDROME; ARTS
OMIM:301840 SPINOCEREBELLAR ATAXIA, X-LINKED 4
OMIM:301845 BAZEX SYNDROME; BZX
OMIM:301900 BORJESON-FORSSMAN-LEHMANN SYNDROME; BFLS
OMIM:301940 BRACHYDACTYLY, MONONEN TYPE
OMIM:301950 BRANCHIAL ARCH SYNDROME, X-LINKED
OMIM:302000 BULLOUS DYSTROPHY, HEREDITARY MACULAR TYPE
OMIM:302030 CALVARIAL HYPEROSTOSIS
OMIM:302045 CARDIOMYOPATHY, DILATED, 3B; CMD3B
OMIM:302060 BARTH SYNDROME; BTHS
OMIM:302200 CATARACT, CONGENITAL, X-LINKED; CXN
OMIM:302300 MICROPHTHALMIA, ISOLATED, WITH CATARACT 3; MCOPCT3
OMIM:302350 NANCE-HORAN SYNDROME; NHS
OMIM:302380 CATEL-MANZKE SYNDROME
OMIM:302400 CENTRAL INCISORS, ABSENCE OF
OMIM:302500 SPINOCEREBELLAR ATAXIA, X-LINKED 1; SCAX1
OMIM:302600 SPINOCEREBELLAR ATAXIA, X-LINKED 2
OMIM:302700 CEREBRAL SCLEROSIS, DIFFUSE, SCHOLZ TYPE
OMIM:302800 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1; CMTX1
OMIM:302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2; CMTX2
OMIM:302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3; CMTX3
OMIM:302803 CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED, WITH APLASIA
OMIM:302900 CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA,
OMIM:302905 CHARGE-LIKE SYNDROME, X-LINKED
OMIM:302950 CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1
OMIM:302960 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2
OMIM:303100 CHOROIDEREMIA; CHM
OMIM:303110 CHOROIDEREMIA, DEAFNESS, AND MENTAL RETARDATION
OMIM:303350 MASA SYNDROME
OMIM:303400 CLEFT PALATE, X-LINKED; CPX
OMIM:303600 COFFIN-LOWRY SYNDROME; CLS
OMIM:303650 COLONIC ATRESIA
OMIM:303700 BLUE CONE MONOCHROMACY; BCM
OMIM:303800 COLORBLINDNESS, PARTIAL, DEUTAN SERIES; CBD
OMIM:303900 COLORBLINDNESS, PARTIAL, PROTAN SERIES; CBP
OMIM:304020 CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1
OMIM:304030 CONE DYSTROPHY, X-LINKED, WITH TAPETAL-LIKE SHEEN
OMIM:304050 AICARDI SYNDROME; AIC
OMIM:304100 CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED
OMIM:304110 CRANIOFRONTONASAL SYNDROME; CFNS
OMIM:304120 OTOPALATODIGITAL SYNDROME, TYPE II; OPD2
OMIM:304150 OCCIPITAL HORN SYNDROME; OHS
OMIM:304200 CUTIS VERTICIS GYRATA, THYROID APLASIA, AND MENTAL RETARDATION
OMIM:304300 CYANIDE, INABILITY TO SMELL
OMIM:304340 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE,
OMIM:304400 DEAFNESS, X-LINKED 2; DFNX2
OMIM:304500 DEAFNESS, X-LINKED 1; DFNX1
OMIM:304590 DEAFNESS, HIGH-FREQUENCY SENSORINEURAL, X-LINKED
OMIM:304700 MOHR-TRANEBJAERG SYNDROME; MTS
OMIM:304730 DERMOIDS OF CORNEA; CND
OMIM:304790 IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED;
OMIM:304800 DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
OMIM:304900 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE
OMIM:304950 DYGGVE-MELCHIOR-CLAUSEN SYNDROME, X-LINKED
OMIM:305000 DYSKERATOSIS CONGENITA, X-LINKED; DKCX
OMIM:305100 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; XHED
OMIM:305200 EHLERS-DANLOS SYNDROME, TYPE V
OMIM:305350 EPIDERMODYSPLASIA VERRUCIFORMIS, X-LINKED; EDVX; EDV2
OMIM:305390 EXUDATIVE VITREORETINOPATHY 2, X-LINKED; EVR2
OMIM:305400 AARSKOG-SCOTT SYNDROME; AAS
OMIM:305450 OPITZ-KAVEGGIA SYNDROME; OKS
OMIM:305550 FINGERPRINT BODY MYOPATHY
OMIM:305600 FOCAL DERMAL HYPOPLASIA; FDH
OMIM:305620 FRONTOMETAPHYSEAL DYSPLASIA; FMD
OMIM:305690 GENITOURINARY TRACT ANOMALIES
OMIM:305700 SPERMATOGENIC FAILURE, X-LINKED, 1; SPGFX1
OMIM:305800 MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS, X-LINKED
OMIM:306000 GLYCOGEN STORAGE DISEASE IXa1; GSD9A1
OMIM:306300 GRANULOMAS, CONGENITAL CEREBRAL
OMIM:306400 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGD
OMIM:306500 GYNECOMASTIA, FAMILIAL
OMIM:306700 HEMOPHILIA A; HEMA
OMIM:306800 HEMOPHILIA A WITH VASCULAR ABNORMALITY
OMIM:306900 HEMOPHILIA B; HEMB
OMIM:306950 HERNIA, ANTERIOR DIAPHRAGMATIC
OMIM:306955 HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1
OMIM:306960 HHHH SYNDROME
OMIM:306980 HIRSCHSPRUNG DISEASE WITH TYPE D BRACHYDACTYLY
OMIM:306990 HOLOPROSENCEPHALY WITH FETAL AKINESIA/HYPOKINESIA SEQUENCE
OMIM:307000 HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS; HSAS
OMIM:307010 HYDROCEPHALUS WITH CEREBELLAR AGENESIS
OMIM:307030 HYPERGLYCEROLEMIA
OMIM:307150 HYPERTRICHOSIS, CONGENITAL GENERALIZED; HTC2
OMIM:307200 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III; IGHD3
OMIM:307300 HYPOGONADISM, MALE
OMIM:307500 HYPOGONADISM, MALE, WITH MENTAL RETARDATION AND SKELETAL ANOMALIES
OMIM:307700 HYPOPARATHYROIDISM, X-LINKED; HYPX
OMIM:307800 HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; XLHR
OMIM:307830 HYPOURICEMIA, FAMILIAL RENAL, DUE TO TUBULAR HYPERSECRETION
OMIM:308050 CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB
OMIM:308100 ICHTHYOSIS, X-LINKED; XLI
OMIM:308200 ICHTHYOSIS AND MALE HYPOGONADISM
OMIM:308205 IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME
OMIM:308220 IMMUNODEFICIENCY, X-LINKED, WITH DEFICIENCY OF 115,000 DALTON SURFACE
OMIM:308230 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1
OMIM:308240 LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1; XLP1
OMIM:308250 IMMUNOGLOBULIN M, LEVEL OF
OMIM:308280 IMPACTED TEETH, MULTIPLE
OMIM:308300 INCONTINENTIA PIGMENTI; IP
OMIM:308350 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1; EIEE1
OMIM:308500 IRIS HYPOPLASIA WITH GLAUCOMA; IHG
OMIM:308600 JAUNDICE, FAMILIAL OBSTRUCTIVE, OF INFANCY
OMIM:308700 HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1
OMIM:308750 KALLMANN SYNDROME WITH SPASTIC PARAPLEGIA
OMIM:308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED; KFSDX
OMIM:308830 KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY
OMIM:308850 LARYNGEAL ABDUCTOR PARALYSIS
OMIM:308905 LEBER OPTIC ATROPHY, SUSCEPTIBILITY TO
OMIM:308930 LEIGH SYNDROME, X-LINKED
OMIM:308940 LEIOMYOMATOSIS, DIFFUSE, WITH ALPORT SYNDROME; DL-ATS
OMIM:308950 LESCH-NYHAN PHENOTYPE WITH NORMAL HGPRT
OMIM:308960 LEUKEMIA, ACUTE, ?X-LINKED
OMIM:308990 PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS
OMIM:309000 LOWE OCULOCEREBRORENAL SYNDROME; OCRL
OMIM:309100 MACULAR DYSTROPHY, X-LINKED
OMIM:309120 SPERMATOGENIC FAILURE, X-LINKED, 2; SPGFX2
OMIM:309200 MAJOR AFFECTIVE DISORDER 2; MAFD2
OMIM:309300 MEGALOCORNEA; MGC1
OMIM:309350 MELNICK-NEEDLES SYNDROME; MNS
OMIM:309400 MENKES DISEASE
OMIM:309480 MENTAL RETARDATION AND PSORIASIS
OMIM:309500 RENPENNING SYNDROME 1; RENS1
OMIM:309510 PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME; PRTS
OMIM:309520 LUJAN-FRYNS SYNDROME
OMIM:309530 MENTAL RETARDATION, X-LINKED 1; MRX1
OMIM:309541 MENTAL RETARDATION, X-LINKED 3; MRX3
OMIM:309545 MENTAL RETARDATION, X-LINKED, SYNDROMIC 12; MRXS12
OMIM:309548 MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXE
OMIM:309549 MENTAL RETARDATION, X-LINKED 9; MRX9
OMIM:309555 MENTAL RETARDATION WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES
OMIM:309560 MENTAL RETARDATION WITH SPASTIC PARAPLEGIA AND PALMOPLANTAR HYPERKERATOSIS
OMIM:309580 MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1
OMIM:309583 MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR
OMIM:309585 WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS
OMIM:309605 MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME; MCS
OMIM:309610 PRIETO X-LINKED MENTAL RETARDATION SYNDROME; PRS
OMIM:309620 MENTAL RETARDATION, SKELETAL DYSPLASIA, AND ABDUCENS PALSY; MRSD
OMIM:309630 METACARPAL 4-5 FUSION; MF4
OMIM:309640 MENTAL RETARDATION WITH SPASTIC PARAPLEGIA
OMIM:309800 MICROPHTHALMIA, SYNDROMIC 1; MCOPS1
OMIM:309801 MICROPHTHALMIA, SYNDROMIC 7; MCOPS7
OMIM:309900 MUCOPOLYSACCHARIDOSIS TYPE II
OMIM:309930 MUSCULAR DYSTROPHY, CARDIAC TYPE
OMIM:309950 MUSCULAR DYSTROPHY, HEMIZYGOUS LETHAL TYPE
OMIM:310000 MUSCULAR DYSTROPHY, MABRY TYPE
OMIM:310095 MUSCULAR DYSTROPHY, PROGRESSIVE PECTORODORSAL
OMIM:310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
OMIM:310300 EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1
OMIM:310350 MYELOLYMPHATIC INSUFFICIENCY
OMIM:310370 MYOCLONIC EPILEPSY, PROGRESSIVE
OMIM:310400 MYOPATHY, CENTRONUCLEAR, X-LINKED; CNMX
OMIM:310440 MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX
OMIM:310460 MYOPIA 1, X-LINKED; MYP1
OMIM:310465 N SYNDROME; NSX
OMIM:310468 NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE; XRN
OMIM:310470 NEUROPATHY, HEREDITARY SENSORY, X-LINKED
OMIM:310490 COWCHOCK SYNDROME; COWCK
OMIM:310500 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A; CSNB1A
OMIM:310600 NORRIE DISEASE; ND
OMIM:310700 NYSTAGMUS 1, CONGENITAL, X-LINKED; NYS1
OMIM:310800 NYSTAGMUS, MYOCLONIC
OMIM:310900 OCCIPITAL HAIR, WHITE LOCK OF
OMIM:310980 OMPHALOCELE, X-LINKED
OMIM:311000 OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA; OPEM
OMIM:311050 OPTIC ATROPHY 2; OPA2
OMIM:311070 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5
OMIM:311100 OPTIC ATROPHY--SPASTIC PARAPLEGIA SYNDROME
OMIM:311150 OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA
OMIM:311200 OROFACIODIGITAL SYNDROME I; OFD1
OMIM:311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO
OMIM:311300 OTOPALATODIGITAL SYNDROME, TYPE I; OPD1
OMIM:311360 PREMATURE OVARIAN FAILURE 1; POF1
OMIM:311400 PAINE SYNDROME
OMIM:311450 PALLISTER W SYNDROME
OMIM:311510 PARKINSONISM, EARLY-ONSET, WITH MENTAL RETARDATION
OMIM:311895 PIERRE ROBIN SEQUENCE WITH FACIAL AND DIGITAL ANOMALIES
OMIM:311900 TARP SYNDROME; TARPS
OMIM:312000 PANHYPOPITUITARISM, X-LINKED; PHPX
OMIM:312060 PROPERDIN DEFICIENCY, X-LINKED; CFPD
OMIM:312080 PELIZAEUS-MERZBACHER DISEASE; PMD
OMIM:312100 PSEUDOHERMAPHRODITISM, INCOMPLETE MALE, TYPE I
OMIM:312150 MULTIPLE PTERYGIUM SYNDROME, X-LINKED
OMIM:312170 PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD
OMIM:312190 RADIAL APLASIA, X-LINKED
OMIM:312200 RADIAL LOOP, PLAIN, ON RIGHT INDEX FINGER
OMIM:312210 RADIATION SENSITIVITY OF NATURAL KILLER ACTIVITY
OMIM:312300 ANDROGEN INSENSITIVITY, PARTIAL; PAIS
OMIM:312500 RETICULOENDOTHELIOSIS, X-LINKED
OMIM:312530 RETINAL DETACHMENT
OMIM:312550 RETINAL DYSPLASIA, PRIMARY; PRD
OMIM:312600 RETINITIS PIGMENTOSA 2; RP2
OMIM:312612 RETINITIS PIGMENTOSA 6; RP6
OMIM:312700 RETINOSCHISIS 1, X-LINKED, JUVENILE; RS1
OMIM:312750 RETT SYNDROME; RTT
OMIM:312780 RUSSELL-SILVER SYNDROME, X-LINKED
OMIM:312830 SCARF SYNDROME
OMIM:312840 SCHIMKE X-LINKED MENTAL RETARDATION SYNDROME
OMIM:312860 SCOTT CRANIODIGITAL SYNDROME WITH MENTAL RETARDATION
OMIM:312863 COMBINED IMMUNODEFICIENCY, X-LINKED; CIDX
OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1
OMIM:312910 SPASTIC PARAPARESIS AND DEAFNESS
OMIM:312920 SPASTIC PARAPLEGIA 2, X-LINKED; SPG2
OMIM:313200 SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1
OMIM:313350 SPLIT-HAND/FOOT MALFORMATION 2; SHFM2
OMIM:313400 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT
OMIM:313420 SPONDYLOMETAPHYSEAL DYSPLASIA, X-LINKED
OMIM:313490 TAURODONTISM, MICRODONTIA, AND DENS INVAGINATUS
OMIM:313500 TOOTH AGENESIS, SELECTIVE, X-LINKED, 1; STHAGX1
OMIM:313850 THORACOABDOMINAL SYNDROME; THAS
OMIM:313900 THROMBOCYTOPENIA 1; THC1
OMIM:314000 THROMBOCYTOPENIA WITH ELEVATED SERUM IgA AND RENAL DISEASE
OMIM:314050 THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED; XLTT
OMIM:314240 TOOTH SIZE
OMIM:314250 DYSTONIA 3, TORSION, X-LINKED; DYT3
OMIM:314300 TORTICOLLIS, KELOIDS, CRYPTORCHIDISM, AND RENAL DYSPLASIA; TKCR
OMIM:314320 TRIGONOCEPHALY WITH SHORT STATURE AND DEVELOPMENTAL DELAY
OMIM:314360 ULNAR HYPOPLASIA WITH LOBSTER-CLAW DEFORMITY OF FEET
OMIM:314380 UNIQUE GREEN PHENOMENON
OMIM:314390 VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX
OMIM:314400 CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVD1
OMIM:314500 VAN DEN BOSCH SYNDROME
OMIM:314550 VESICOURETERAL REFLUX, X-LINKED; VURX
OMIM:314560 VON WILLEBRAND DISEASE, X-LINKED FORM
OMIM:314570 WIDOW'S PEAK SYNDROME
OMIM:314580 WIEACKER SYNDROME
OMIM:314600 WILDERVANCK SYNDROME
OMIM:315000 ZONULAR CATARACT AND NYSTAGMUS
OMIM:400043 DEAFNESS, Y-LINKED 1; DFNY1
OMIM:400044 46,XY SEX REVERSAL 1; SRXY1
OMIM:400045 46,XX SEX REVERSAL 1; SRXX1
OMIM:415000 SPERMATOGENIC FAILURE, Y-LINKED, 2; SPGFY2
OMIM:424500 GONADOBLASTOMA; GBY
OMIM:425500 HAIRY EARS, Y-LINKED
OMIM:475000 GROWTH CONTROL, Y-CHROMOSOME INFLUENCED; GCY
OMIM:500001 LEBER OPTIC ATROPHY AND DYSTONIA
OMIM:500002 MITOCHONDRIAL MYOPATHY WITH DIABETES
OMIM:500003 STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL
OMIM:500007 CYCLIC VOMITING SYNDROME; CVS
OMIM:500009 MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT; MMIT
OMIM:502500 ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL
OMIM:515000 CHLORAMPHENICOL TOXICITY
OMIM:520000 DIABETES AND DEAFNESS, MATERNALLY INHERITED; MIDD
OMIM:530000 KEARNS-SAYRE SYNDROME; KSS
OMIM:535000 LEBER OPTIC ATROPHY
OMIM:540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE
OMIM:545000 MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF
OMIM:550500 MYOGLOBINURIA, RECURRENT
OMIM:551000 MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE; LIMM
OMIM:551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA
OMIM:553000 ONCOCYTOMA
OMIM:557000 PEARSON MARROW-PANCREAS SYNDROME
OMIM:560000 RENAL TUBULOPATHY, DIABETES MELLITUS, AND CEREBELLAR ATAXIA
OMIM:580000 DEAFNESS, AMINOGLYCOSIDE-INDUCED
OMIM:598500 WOLFRAM SYNDROME, MITOCHONDRIAL FORM
OMIM:600000 SPONDYLOCAMPTODACTYLY
OMIM:600001 PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS; PACHD
OMIM:600002 EIKEN SKELETAL DYSPLASIA
OMIM:600057 EXSTROPHY OF BLADDER
OMIM:600059 RETINITIS PIGMENTOSA 13; RP13
OMIM:600060 DEAFNESS, AUTOSOMAL RECESSIVE 2; DFNB2
OMIM:600072 FATAL FAMILIAL INSOMNIA; FFI
OMIM:600080 MYELOCYTIC LEUKEMIA-LIKE SYNDROME, FAMILIAL, CHRONIC
OMIM:600081 VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B; VDDR1B
OMIM:600082 PROSTATIC HYPERPLASIA, BENIGN; BPH
OMIM:600089 PANCREATIC BETA CELL AGENESIS WITH NEONATAL DIABETES MELLITUS
OMIM:600092 CHONDRODYSPLASIA-PSEUDOHERMAPHRODITISM SYNDROME
OMIM:600093 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH CHARACTERISTIC FACIES
OMIM:600096 PUERTO RICAN INFANT HYPOTONIA SYNDROME
OMIM:600101 DEAFNESS, AUTOSOMAL DOMINANT 2A; DFNA2A
OMIM:600105 RETINITIS PIGMENTOSA 12; RP12
OMIM:600110 STARGARDT DISEASE 3; STGD3
OMIM:600116 PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2
OMIM:600117 DYSPHASIA, FAMILIAL DEVELOPMENTAL
OMIM:600118 WARBURG MICRO SYNDROME 1; WARBM1
OMIM:600121 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3; RCDP3
OMIM:600122 MALE PSEUDOHERMAPHRODITISM/MENTAL RETARDATION SYNDROME, VERLOES TYPE
OMIM:600123 ATRIOVENTRICULAR SEPTAL DEFECT WITH BLEPHAROPHIMOSIS AND ANAL AND
OMIM:600131 EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 1; ECA1
OMIM:600132 RETINITIS PIGMENTOSA 14; RP14
OMIM:600138 RETINITIS PIGMENTOSA 11; RP11
OMIM:600142 CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS
OMIM:600143 CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8
OMIM:600145 SACRAL DEFECT WITH ANTERIOR MENINGOCELE
OMIM:600146 SPASTIC PARAPLEGIA 5B, AUTOSOMAL RECESSIVE; SPG5B
OMIM:600155 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2; HSCR2
OMIM:600156 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 5; HSCR5
OMIM:600159 PTERYGIUM COLLI AND MENTAL RETARDATION WITH FACIAL AND DIGITAL ANOMALIES
OMIM:600165 NANOPHTHALMOS 1; NNO1
OMIM:600166 HYPERPARATHYROIDISM, PRIMARY, CAUSED BY WATER CLEAR CELL HYPERPLASIA
OMIM:600171 GONADAL AGENESIS
OMIM:600175 SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE
OMIM:600176 PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS
OMIM:600193 WAARDENBURG SYNDROME, TYPE 2B; WS2B
OMIM:600195 VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL; VMCM
OMIM:600202 DYSLEXIA, SUSCEPTIBILITY TO, 2; DYX2
OMIM:600204 EPIPHYSEAL DYSPLASIA, MULTIPLE, 2; EDM2
OMIM:600208 MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS
OMIM:600209 EXOSTOSES, MULTIPLE, TYPE III; EXT3
OMIM:600223 SPINOCEREBELLAR ATAXIA 4; SCA4
OMIM:600224 SPINOCEREBELLAR ATAXIA 5; SCA5
OMIM:600231 PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB
OMIM:600251 FACIAL CLEFTING, OBLIQUE, 1; OBLFC1
OMIM:600252 LOWRY-MACLEAN SYNDROME
OMIM:600257 CHROMOSOME 8q12.1-q21.2 DELETION SYNDROME
OMIM:600263 HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO
OMIM:600268 APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS
OMIM:600269 SHORT TARSUS WITH ABSENCE OF LOWER EYELASHES; STALE
OMIM:600273 POLYCYSTIC KIDNEY DISEASE, INFANTILE SEVERE, WITH TUBEROUS SCLEROSIS;
OMIM:600274 FRONTOTEMPORAL DEMENTIA; FTD
OMIM:600302 FRYNS MACROCEPHALY
OMIM:600309 ATRIOVENTRICULAR SEPTAL DEFECT 3; AVSD3
OMIM:600316 DEAFNESS, AUTOSOMAL RECESSIVE 3; DFNB3
OMIM:600325 AMINOPTERIN SYNDROME SINE AMINOPTERIN; ASSA
OMIM:600329 OSTEOPETROSIS AND INFANTILE NEUROAXONAL DYSTROPHY
OMIM:600331 PARC SYNDROME
OMIM:600332 RIPPLING MUSCLE DISEASE 1; RMD1
OMIM:600333 MOTOR NEURON DISEASE WITH DEMENTIA AND OPHTHALMOPLEGIA
OMIM:600334 TIBIAL MUSCULAR DYSTROPHY, TARDIVE
OMIM:600335 SUCCINIC ACIDEMIA
OMIM:600343 PAROTID SALIVARY GLANDS, POLYCYSTIC DYSGENETIC DISEASE OF; PDDP
OMIM:600348 BAND HETEROTOPIA OF BRAIN
OMIM:600351 ENTEROPATHY, FAMILIAL, WITH VILLOUS EDEMA AND IMMUNOGLOBULIN G2 DEFICIENCY
OMIM:600360 APLASIA CUTIS CONGENITA OF LIMBS, AUTOSOMAL RECESSIVE
OMIM:600361 HEREDITARY MOTOR AND SENSORY NEUROPATHY V
OMIM:600363 SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT; SPG6
OMIM:600373 CODAS SYNDROME
OMIM:600376 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2; HHT2
OMIM:600383 MESOMELIA-SYNOSTOSES SYNDROME
OMIM:600384 APHALANGIA, PARTIAL, WITH SYNDACTYLY AND DUPLICATION OF METATARSAL
OMIM:600399 PECTUS EXCAVATUM, MACROCEPHALY, SHORT STATURE, AND DYSPLASTIC NAILS
OMIM:600416 MUSCULAR DYSTROPHY, SCAPULOHUMERAL
OMIM:600419 ANGIOKERATOMA CORPORIS DIFFUSUM WITH ARTERIOVENOUS FISTULAS
OMIM:600430 BRACHYDACTYLY-MENTAL RETARDATION SYNDROME; BDMR
OMIM:600457 HYPERTRICHOSIS, ANTERIOR CERVICAL
OMIM:600458 ADENOMYOSIS
OMIM:600459 ARTERIAL DISSECTION WITH LENTIGINOSIS
OMIM:600460 CLEFT PALATE, CARDIAC DEFECT, GENITAL ANOMALIES, AND ECTRODACTYLY
OMIM:600461 HEMOLYTIC ANEMIA, LETHAL CONGENITAL NONSPHEROCYTIC, WITH GENITAL AND
OMIM:600462 MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1; MLASA1
OMIM:600467 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 4
OMIM:600496 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3; MODY3
OMIM:600501 ABCD SYNDROME; ABCDS
OMIM:600510 GLAUCOMA-RELATED PIGMENT DISPERSION SYNDROME; GPDS1
OMIM:600511 SCHIZOPHRENIA 3; SCZD3
OMIM:600512 EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1
OMIM:600513 EPILEPSY, NOCTURNAL FRONTAL LOBE, 1; ENFL1
OMIM:600546 INTRAUTERINE GROWTH RETARDATION WITH INCREASED MITOMYCIN C SENSITIVITY
OMIM:600559 HYDROCEPHALUS, ENDOCARDIAL FIBROELASTOSIS, AND CATARACTS
OMIM:600561 SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY
OMIM:600593 CRANIOSYNOSTOSIS, ADELAIDE TYPE; CRSA
OMIM:600598 SETTING-SUN PHENOMENON, FAMILIAL BENIGN
OMIM:600624 CONE-ROD DYSTROPHY 1; CORD1
OMIM:600625 OROFACIAL CLEFT 11; OFC11
OMIM:600627 HYPERTRYPTOPHANEMIA, FAMILIAL
OMIM:600628 LOOSE ANAGEN HAIR SYNDROME
OMIM:600630 UV-SENSITIVE SYNDROME 1; UVSS1
OMIM:600631 ENURESIS, NOCTURNAL, 1; ENUR1
OMIM:600634 PITUITARY ADENOMA, PROLACTIN-SECRETING
OMIM:600638 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR
OMIM:600643 CAROLI DISEASE, ISOLATED
OMIM:600649 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
OMIM:600652 DEAFNESS, AUTOSOMAL DOMINANT 4A; DFNA4A
OMIM:600666 POLYCYSTIC KIDNEY DISEASE 3, AUTOSOMAL DOMINANT; PKD3
OMIM:600668 CHONDROCALCINOSIS 1; CCAL1
OMIM:600669 EPILEPSY, IDIOPATHIC GENERALIZED; EIG
OMIM:600670 VARICELLA, SEVERE RECURRENT
OMIM:600674 MICROTIA-ANOTIA
OMIM:600679 DERMOID CYSTS, FAMILIAL FRONTONASAL
OMIM:600705 SATOYOSHI SYNDROME
OMIM:600706 PROXIMAL MYOPATHY WITH FOCAL DEPLETION OF MITOCHONDRIA
OMIM:600721 D-2-@HYDROXYGLUTARIC ACIDURIA 1
OMIM:600736 VELOFACIOSKELETAL SYNDROME
OMIM:600737 INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE; IBM2
OMIM:600740 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III; HHC3
OMIM:600757 OROFACIAL CLEFT 3; OFC3
OMIM:600771 DWARFISM, FAMILIAL, WITH MUSCLE SPASMS
OMIM:600775 LAMBDOID SYNOSTOSIS
OMIM:600776 FRYNS MICROPHTHALMIA SYNDROME
OMIM:600785 VITAMIN D-DEPENDENT RICKETS, TYPE 2B, WITH NORMAL VITAMIN D RECEPTOR;
OMIM:600790 CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL
OMIM:600791 DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT;
OMIM:600792 DEAFNESS, AUTOSOMAL RECESSIVE 5; DFNB5
OMIM:600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA; HMN5A
OMIM:600795 FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED; FTD3
OMIM:600802 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,
OMIM:600803 GALLBLADDER DISEASE 1; GBD1
OMIM:600807 ASTHMA, SUSCEPTIBILITY TO
OMIM:600808 ENURESIS, NOCTURNAL, 2; ENUR2
OMIM:600852 RETINITIS PIGMENTOSA 17; RP17
OMIM:600858 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6; CMH6
OMIM:600880 BUDD-CHIARI SYNDROME; BDCHS
OMIM:600881 CATARACT, CONGENITAL ZONULAR, WITH SUTURAL OPACITIES; CCZS
OMIM:600882 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B; CMT2B
OMIM:600884 CARDIOMYOPATHY, DILATED, 1B; CMD1B
OMIM:600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT
OMIM:600901 FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE
OMIM:600903 WISKOTT-ALDRICH SYNDROME, AUTOSOMAL DOMINANT FORM
OMIM:600906 ECTODERMAL DYSPLASIA WITH MENTAL RETARDATION AND SYNDACTYLY
OMIM:600907 ENAMEL HYPOPLASIA, CATARACTS, AND AQUEDUCTAL STENOSIS
OMIM:600908 AGONADISM, 46,XY, WITH MENTAL RETARDATION, SHORT STATURE, RETARDED
OMIM:600919 CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
OMIM:600920 VAN DEN ENDE-GUPTA SYNDROME; VDEGS
OMIM:600955 PROPROTEIN CONVERTASE 1/3 DEFICIENCY
OMIM:600962 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK
OMIM:600965 DEAFNESS, AUTOSOMAL DOMINANT 6; DFNA6
OMIM:600969 EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; EDM3
OMIM:600971 DEAFNESS, AUTOSOMAL RECESSIVE 6; DFNB6
OMIM:600972 ACHONDROGENESIS, TYPE IB; ACG1B
OMIM:600974 DEAFNESS, AUTOSOMAL RECESSIVE 7; DFNB7
OMIM:600975 GLAUCOMA 3, PRIMARY INFANTILE, B; GLC3B
OMIM:600977 CONE-ROD DYSTROPHY 5; CORD5
OMIM:600987 CARDIAC MALFORMATION, CLEFT LIP-PALATE, MICROCEPHALY AND DIGITAL ANOMALIES
OMIM:600989 INFUNDIBULOPELVIC DYSGENESIS
OMIM:600991 HYDROCEPHALUS, SPRENGEL ANOMALY, AND COSTOVERTEBRAL DYSPLASIA
OMIM:600994 DEAFNESS, AUTOSOMAL DOMINANT 5; DFNA5
OMIM:600995 NEPHROTIC SYNDROME, TYPE 2; NPHS2
OMIM:600996 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2; ARVD2
OMIM:601001 EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE
OMIM:601003 BRODY MYOPATHY
OMIM:601004 PORTAL VEIN, CAVERNOUS TRANSFORMATION OF
OMIM:601005 TIMOTHY SYNDROME; TS
OMIM:601016 MIDLINE MALFORMATIONS, MULTIPLE, WITH LIMB ABNORMALITIES AND HYPOPITUITARISM
OMIM:601027 TIBIA, ABSENCE OR HYPOPLASIA OF, WITH POLYDACTYLY, RETROCEREBELLAR
OMIM:601039 ICHTHYOSIS-MENTAL RETARDATION SYNDROME WITH LARGE KERATOHYALIN GRANULES
OMIM:601042 DYSTONIA 9; DYT9
OMIM:601067 USHER SYNDROME, TYPE ID; USH1D
OMIM:601068 EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1; FAME1
OMIM:601071 DEAFNESS, AUTOSOMAL RECESSIVE 9; DFNB9
OMIM:601072 DEAFNESS, AUTOSOMAL RECESSIVE 8; DFNB8
OMIM:601075 APLASIA CUTIS CONGENITA, HIGH MYOPIA, AND CONE-ROD DYSFUNCTION
OMIM:601076 MULLERIAN DUCT APLASIA, UNILATERAL RENAL AGENESIS, AND CERVICOTHORACIC
OMIM:601085 ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, AUTOSOMAL
OMIM:601086 LATERALITY DEFECTS, AUTOSOMAL DOMINANT
OMIM:601088 CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKE
OMIM:601095 HARROD SYNDROME
OMIM:601096 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MICROMELIC
OMIM:601098 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C; CMT1C
OMIM:601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1
OMIM:601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; CDG1D
OMIM:601127 FALLOT COMPLEX WITH SEVERE MENTAL AND GROWTH RETARDATION
OMIM:601144 BRUGADA SYNDROME 1; BRGDA1
OMIM:601152 HEREDITARY MOTOR AND SENSORY NEUROPATHY VI
OMIM:601154 CARDIOMYOPATHY, DILATED, 1E; CMD1E
OMIM:601160 LISSENCEPHALY TYPE III AND BONE DYSPLASIA
OMIM:601161 TRISOMY 18-LIKE SYNDROME
OMIM:601162 SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; SPG9
OMIM:601163 DIAPHRAGMATIC DEFECTS, LIMB DEFICIENCIES, AND OSSIFICATION DEFECTS
OMIM:601165 CLEFT LIP/PALATE WITH CHARACTERISTIC FACIES, INTESTINAL MALROTATION,
OMIM:601170 MUSCULAR DYSTROPHY, CONGENITAL, WITH SEVERE CENTRAL NERVOUS SYSTEM
OMIM:601186 MICROPHTHALMIA, SYNDROMIC 9; MCOPS9
OMIM:601187 GURRIERI SYNDROME
OMIM:601200 PLEUROPULMONARY BLASTOMA; PPB
OMIM:601202 CATARACT, ANTERIOR POLAR, 2; CTAA2
OMIM:601214 NAXOS DISEASE
OMIM:601216 PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA
OMIM:601217 ALOPECIA-MENTAL RETARDATION SYNDROME WITH CONVULSIONS AND HYPERGONADOTROPIC
OMIM:601220 OSTEOPOROSIS AND OCULOCUTANEOUS HYPOPIGMENTATION SYNDROME; OOCH
OMIM:601222 CRANIOSYNOSTOSIS, PHILADELPHIA TYPE
OMIM:601224 POTOCKI-SHAFFER SYNDROME
OMIM:601228 POLYPOSIS SYNDROME, HEREDITARY MIXED, 1; HMPS1
OMIM:601230 DERMATITIS HERPETIFORMIS, FAMILIAL
OMIM:601238 CEREBELLAR ATAXIA, CAYMAN TYPE; ATCAY
OMIM:601277 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A; ARCI4A
OMIM:601287 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F
OMIM:601316 DEAFNESS, AUTOSOMAL DOMINANT 10; DFNA10
OMIM:601317 DEAFNESS, AUTOSOMAL DOMINANT 11; DFNA11
OMIM:601319 ODONTOMICRONYCHIAL DYSPLASIA
OMIM:601321 NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS
OMIM:601322 PORENCEPHALY, CEREBELLAR HYPOPLASIA, AND INTERNAL MALFORMATIONS
OMIM:601331 RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO; CYSRD
OMIM:601338 CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL
OMIM:601341 ATROPHIA MACULOSA VARIOLIFORMIS CUTIS, FAMILIAL; AMVC
OMIM:601344 SPINAL DYSPLASIA, ANHALT TYPE
OMIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE
OMIM:601346 PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA
OMIM:601347 MYELODYSPLASIA, IMMUNODEFICIENCY, FACIAL DYSMORPHISM, SHORT STATURE,
OMIM:601348 ECTRODACTYLY OF LOWER LIMBS, CONGENITAL HEART DEFECT, AND MICROGNATHIA
OMIM:601349 MICROPHTHALMIA, SYNDROMIC 8; MCOPS8
OMIM:601350 SHORT STATURE SYNDROME, BRUSSELS TYPE
OMIM:601351 GROWTH RETARDATION, DEAFNESS, FEMORAL EPIPHYSEAL DYSPLASIA, AND LACRIMAL
OMIM:601352 MENTAL RETARDATION, MICROCEPHALY, EPILEPSY, AND COARSE FACE
OMIM:601353 BRACHYCEPHALY, DEAFNESS, CATARACT, MICROSTOMIA, AND MENTAL RETARDATION
OMIM:601355 MICROCEPHALY, CONGENITAL HEART DISEASE, UNILATERAL RENAL AGENESIS,
OMIM:601356 LETHAL SHORT-LIMB SKELETAL DYSPLASIA, AL GAZALI TYPE
OMIM:601357 BRACHIAL AMELIA, CLEFT LIP, AND HOLOPROSENCEPHALY; ACLH
OMIM:601358 NICOLAIDES-BARAITSER SYNDROME; NCBRS
OMIM:601360 AMELIA, AUTOSOMAL RECESSIVE
OMIM:601362 DIGEORGE SYNDROME/VELOCARDIOFACIAL SYNDROME COMPLEX 2
OMIM:601363 WILMS TUMOR 4
OMIM:601367 STROKE, ISCHEMIC
OMIM:601369 DEAFNESS, AUTOSOMAL DOMINANT 9; DFNA9
OMIM:601370 HOLOPROSENCEPHALY, SEMILOBAR, WITH CRANIOSYNOSTOSIS
OMIM:601371 CATARACT, AGE-RELATED NUCLEAR
OMIM:601372 CHOREA, REMITTING, WITH NYSTAGMUS AND CATARACT
OMIM:601374 APROSENCEPHALY AND CEREBELLAR DYSGENESIS
OMIM:601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE
OMIM:601376 CHONDRODYSPLASIA, LETHAL, WITH LONG BONE ANGULATION AND MIXED BONE
OMIM:601379 HUNTER-MCALPINE CRANIOSYNOSTOSIS SYNDROME
OMIM:601382 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1; CMT4B1
OMIM:601386 DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12
OMIM:601389 CERVICAL RIBS, SPRENGEL ANOMALY, ANAL ATRESIA, AND URETHRAL OBSTRUCTION
OMIM:601399 PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY
OMIM:601410 DIABETES MELLITUS, TRANSIENT NEONATAL, 1
OMIM:601412 DEAFNESS, AUTOSOMAL DOMINANT 7; DFNA7
OMIM:601414 RETINITIS PIGMENTOSA 18; RP18
OMIM:601419 MYOPATHY, MYOFIBRILLAR, 1; MFM1
OMIM:601420 MICROCEPHALY, CORPUS CALLOSUM DYSGENESIS, AND CLEFT LIP/PALATE
OMIM:601427 ANTERIOR CHAMBER CLEAVAGE DISORDER, CEREBELLAR HYPOPLASIA, HYPOTHYROIDISM,
OMIM:601438 RHIZOMELIC DYSPLASIA, PATTERSON-LOWRY TYPE
OMIM:601449 DEAFNESS, PROGRESSIVE, WITH STAPES FIXATION
OMIM:601450 DISLOCATION OF HIP, CONGENITAL, WITH HYPEREXTENSIBILITY OF FINGERS
OMIM:601453 TRICHODENTAL DYSPLASIA
OMIM:601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D; CMT4D
OMIM:601457 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,
OMIM:601462 MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL; SCCMS
OMIM:601466 PATENT DUCTUS VENOSUS; PDV
OMIM:601471 FACIAL PARESIS, HEREDITARY CONGENITAL, 1; HCFP1
OMIM:601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D
OMIM:601477 RIBBING DISEASE
OMIM:601492 MUCOPOLYSACCHARIDOSIS TYPE IX
OMIM:601493 CARDIOMYOPATHY, DILATED, 1C; CMD1C
OMIM:601494 CARDIOMYOPATHY, DILATED, 1D; CMD1D
OMIM:601495 AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE; AGM1
OMIM:601499 AXENFELD-RIEGER SYNDROME, TYPE 2; RIEG2
OMIM:601518 PROSTATE CANCER, HEREDITARY, 1; HPC1
OMIM:601536 ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS
OMIM:601539 PEROXISOME BIOGENESIS DISORDER 1B; PBD1B
OMIM:601543 DEAFNESS, AUTOSOMAL DOMINANT 12; DFNA12
OMIM:601544 DEAFNESS, AUTOSOMAL DOMINANT 3A; DFNA3A
OMIM:601547 CATARACT 3, MULTIPLE TYPES; CTRCT3
OMIM:601549 ALACRIMA, CONGENITAL
OMIM:601552 ECTOPIA LENTIS, SPONTANEOUS FILTERING BLEBS, AND CRANIOFACIAL DYSMORPHISM
OMIM:601553 HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY; HJMD
OMIM:601559 STUVE-WIEDEMANN SYNDROME
OMIM:601560 MULTIPLE EPIPHYSEAL DYSPLASIA WITH ROBIN PHENOTYPE
OMIM:601561 DYSSEGMENTAL DYSPLASIA WITH GLAUCOMA
OMIM:601583 WILMS TUMOR 5; WT5
OMIM:601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; CMT4C
OMIM:601606 TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1
OMIM:601608 SPASTIC PARAPLEGIA AND EVANS SYNDROME
OMIM:601612 LUNG AGENESIS, CONGENITAL HEART DEFECTS, AND THUMB ANOMALIES SYNDROME;
OMIM:601616 IRIS PIGMENT EPITHELIUM ANOMALIES
OMIM:601626 LEUKEMIA, ACUTE MYELOID; AML
OMIM:601631 IRIDOGONIODYSGENESIS, TYPE 1; IRID1
OMIM:601650 PARAGANGLIOMAS 2; PGL2
OMIM:601665 OBESITY
OMIM:601666 DIABETES MELLITUS, INSULIN-DEPENDENT, 15; IDDM15
OMIM:601668 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION; SEMDAD
OMIM:601675 TRICHOTHIODYSTROPHY, PHOTOSENSITIVE; TTDP
OMIM:601678 BARTTER SYNDROME, ANTENATAL, TYPE 1
OMIM:601680 ARTHROGRYPOSIS, DISTAL, TYPE 2B; DA2B
OMIM:601682 GLAUCOMA 1, PRIMARY OPEN ANGLE, C; GLC1C
OMIM:601700 SEBACEOUS GLAND HYPERPLASIA, FAMILIAL PRESENILE
OMIM:601701 ARTHROGRYPOSIS AND ECTODERMAL DYSPLASIA
OMIM:601705 T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY
OMIM:601706 YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME
OMIM:601707 CRANIOFACIAL MALFORMATIONS, ASYMMETRIC, WITH POLYSYNDACTYLY AND ABNORMAL
OMIM:601708 SUPERIOR TRANSVERSE SCAPULAR LIGAMENT, CALCIFICATION OF, FAMILIAL
OMIM:601709 QUEBEC PLATELET DISORDER; QPD
OMIM:601718 RETINITIS PIGMENTOSA 19; RP19
OMIM:601759 PREAXIAL HALLUCAL POLYDACTYLY
OMIM:601764 SEIZURES, BENIGN FAMILIAL INFANTILE, 1; BFIS1
OMIM:601776 EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE
OMIM:601777 CONE-ROD DYSTROPHY 6; CORD6
OMIM:601780 CEROID LIPOFUSCINOSIS, NEURONAL, 6; CLN6
OMIM:601794 COLOBOMA-OBESITY-HYPOGENITALISM-MENTAL RETARDATION SYNDROME
OMIM:601803 PALLISTER-KILLIAN SYNDROME; PKS
OMIM:601808 CHROMOSOME 18q DELETION SYNDROME
OMIM:601809 SPONDYLOSPINAL THORACIC DYSOSTOSIS
OMIM:601811 PREMATURE AGING SYNDROME, OKAMOTO TYPE
OMIM:601812 PREMATURE AGING SYNDROME, PENTTINEN TYPE
OMIM:601813 EXUDATIVE VITREORETINOPATHY 4; EVR4
OMIM:601815 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
OMIM:601820 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2; HHF2
OMIM:601829 ACROFACIAL DYSOSTOSIS, PALAGONIA TYPE
OMIM:601846 VACUOLAR NEUROMYOPATHY
OMIM:601847 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2; PFIC2
OMIM:601853 CEREBELLOTRIGEMINAL DERMAL DYSPLASIA
OMIM:601859 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; ALPS
OMIM:601868 DEAFNESS, AUTOSOMAL DOMINANT 13; DFNA13
OMIM:601869 DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15
OMIM:601884 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1; BMND1
OMIM:601885 CATARACT, ZONULAR PULVERULENT 3; CZP3
OMIM:601894 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2; GFND2
OMIM:601927 LYMPHEDEMA, CARDIAC SEPTAL DEFECTS, AND CHARACTERISTIC FACIES
OMIM:601941 DIABETES MELLITUS, INSULIN-DEPENDENT, 6; IDDM6
OMIM:601942 DIABETES MELLITUS, INSULIN-DEPENDENT, 10; IDDM10
OMIM:601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA
OMIM:601954 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G; LGMD2G
OMIM:601957 ODONTOTRICHOUNGUAL-DIGITAL-PALMAR SYNDROME
OMIM:601976 OTOFACIOOSSEOUS-GONADAL SYNDROME
OMIM:601977 THROMBOCYTHEMIA 2; THCYT2
OMIM:601979 HYPERZINCEMIA WITH FUNCTIONAL ZINC DEPLETION
OMIM:601992 FRIEDREICH ATAXIA 2; FRDA2
OMIM:602014 HYPOMAGNESEMIA 1, INTESTINAL; HOMG1
OMIM:602025 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9; BMIQ9
OMIM:602032 ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE; ECTD4
OMIM:602066 CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS;
OMIM:602068 LEISHMANIASIS, TEGUMENTARY, SUSCEPTIBILITY TO
OMIM:602071 BROAD TERMINAL PHALANGES, FAMILIAL
OMIM:602078 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2; CFEOM2
OMIM:602079 TRIMETHYLAMINURIA; TMAU
OMIM:602080 PAGET DISEASE OF BONE; PDB
OMIM:602081 SPEECH-LANGUAGE DISORDER 1; SPCH1
OMIM:602082 CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE II; CDB2
OMIM:602083 USHER SYNDROME, TYPE IF; USH1F
OMIM:602085 POLYDACTYLY, POSTAXIAL, TYPE A2; PAPA2
OMIM:602086 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 3; ARVD3
OMIM:602087 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 4; ARVD4
OMIM:602088 NEPHRONOPHTHISIS 2; NPHP2
OMIM:602089 HEMANGIOMA, CAPILLARY INFANTILE
OMIM:602092 DEAFNESS, AUTOSOMAL RECESSIVE 18A; DFNB18A
OMIM:602093 CONE DYSTROPHY 3; COD3
OMIM:602096 ALZHEIMER DISEASE 5
OMIM:602097 USHER SYNDROME, TYPE IE; USH1E
OMIM:602099 AMYOTROPHIC LATERAL SCLEROSIS 5; ALS5
OMIM:602107 NEUROPATHY, HEREDITARY THERMOSENSITIVE
OMIM:602111 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE
OMIM:602114 NEPHROPATHY, PROGRESSIVE TUBULOINTERSTITIAL, WITH CHOLESTATIC LIVER
OMIM:602124 DYSTONIA 7, TORSION; DYT7
OMIM:602134 TREMOR, HEREDITARY ESSENTIAL, 2; ETM2
OMIM:602152 RHYNS SYNDROME
OMIM:602196 PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES
OMIM:602197 CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 3
OMIM:602199 MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY
OMIM:602200 VENTRICULOMEGALY WITH DEFECTS OF THE RADIUS AND KIDNEY
OMIM:602247 XANTHOMATOSIS, SUSCEPTIBILITY TO
OMIM:602248 MALIGNANT ATROPHIC PAPULOSIS
OMIM:602249 PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES
OMIM:602271 SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL
OMIM:602342 PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY
OMIM:602347 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3; PFIC3
OMIM:602361 GRACILE BONE DYSPLASIA
OMIM:602390 HEMOCHROMATOSIS, TYPE 2A; HFE2A
OMIM:602398 DESMOSTEROLOSIS
OMIM:602401 ECTODERMAL DYSPLASIA 8, HAIR/TOOTH/NAIL TYPE; ECTD8
OMIM:602418 WEYERS ULNAR RAY/OLIGODACTYLY SYNDROME
OMIM:602433 AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE; ALS4
OMIM:602440 AMYOTROPHY, MONOMELIC
OMIM:602450 SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION
OMIM:602459 DEAFNESS, AUTOSOMAL DOMINANT 15; DFNA15
OMIM:602471 SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL
OMIM:602473 ENCEPHALOPATHY, ETHYLMALONIC; EE
OMIM:602475 OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE; OPLL
OMIM:602477 FEBRILE SEIZURES, FAMILIAL, 2; FEB2
OMIM:602481 MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2
OMIM:602482 AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3
OMIM:602483 AURICULOCONDYLAR SYNDROME 1; ARCND1
OMIM:602484 PELVIC HYPOPLASIA WITH LOWER-LIMB ARTHROGRYPOSIS
OMIM:602485 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3; HHF3
OMIM:602501 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME; MCAP
OMIM:602522 BARTTER SYNDROME, TYPE 4A
OMIM:602531 ARTERIAL OCCLUSIVE DISEASE, PROGRESSIVE, WITH HYPERTENSION, HEART
OMIM:602535 MARSHALL-SMITH SYNDROME; MRSHSS
OMIM:602540 ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
OMIM:602541 MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE; MDCMC
OMIM:602553 ANAL ATRESIA, HYPOSPADIAS, AND PENOSCROTAL INVERSION
OMIM:602554 TORSION DYSTONIA WITH ONSET IN INFANCY
OMIM:602557 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE
OMIM:602558 CRANIOMICROMELIC SYNDROME
OMIM:602579 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B
OMIM:602588 BRANCHIOOTIC SYNDROME 1; BOS1
OMIM:602612 CAMPTODACTYLY, MYOPIA, AND FIBROSIS OF THE MEDIAL RECTUS MUSCLE OF
OMIM:602613 SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION,
OMIM:602629 DYSTONIA 6, TORSION; DYT6
OMIM:602668 MYOTONIC DYSTROPHY 2; DM2
OMIM:602722 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR
OMIM:602771 RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1
OMIM:602772 RETINITIS PIGMENTOSA 25; RP25
OMIM:602782 HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME
OMIM:602849 MUENKE SYNDROME; MNKES
OMIM:602875 ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM
OMIM:603034 ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY; EAD
OMIM:603041 MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE); MTDPS1
OMIM:603116 CDAGS SYNDROME
OMIM:603147 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic; CDG1C
OMIM:603165 DERMATITIS, ATOPIC
OMIM:603194 MECKEL SYNDROME, TYPE 2; MKS2
OMIM:603204 EPILEPSY, NOCTURNAL FRONTAL LOBE, 2; ENFL2
OMIM:603218 HUNTINGTON DISEASE-LIKE 1; HDL1
OMIM:603221 MYOPIA 3, AUTOSOMAL DOMINANT; MYP3
OMIM:603233 PSEUDOHYPOPARATHYROIDISM, TYPE IB; PHP1B
OMIM:603278 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1
OMIM:603284 CEREBRAL CAVERNOUS MALFORMATIONS 2; CCM2
OMIM:603285 CEREBRAL CAVERNOUS MALFORMATIONS 3; CCM3
OMIM:603358 GRACILE SYNDROME
OMIM:603373 HYPERTHYROIDISM, FAMILIAL GESTATIONAL
OMIM:603387 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME;
OMIM:603438 RADIOULNAR SYNOSTOSIS WITH MICROCEPHALY, SHORT STATURE, SCOLIOSIS,
OMIM:603457 ARHINIA, CHOANAL ATRESIA, AND MICROPHTHALMIA
OMIM:603463 HYPOSPADIAS, HYPERTELORISM, UPPER LID COLOBOMA, AND MIXED-TYPE HEARING
OMIM:603471 CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2
OMIM:603472 NEURONAL INTRANUCLEAR INCLUSION DISEASE
OMIM:603511 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E; LGMD1E
OMIM:603513 CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1; CPSQ1
OMIM:603516 SPINOCEREBELLAR ATAXIA 10; SCA10
OMIM:603543 LIMB-MAMMARY SYNDROME; LMS
OMIM:603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 2; SEMDJL2
OMIM:603552 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4
OMIM:603553 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2
OMIM:603554 OMENN SYNDROME
OMIM:603563 SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT; SPG8
OMIM:603585 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf; CDG2F
OMIM:603622 DEAFNESS, AUTOSOMAL DOMINANT 17; DFNA17
OMIM:603629 DEAFNESS, AUTOSOMAL RECESSIVE 21; DFNB21
OMIM:603641 NEUROENDOCRINE CARCINOMA OF SALIVARY GLANDS, SENSORINEURAL HEARING
OMIM:603649 CONE-ROD DYSTROPHY 7; CORD7
OMIM:603671 ACROMELIC FRONTONASAL DYSOSTOSIS
OMIM:603688 PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY
OMIM:603689 HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE; HMERF
OMIM:603720 DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16
OMIM:603736 OHDO SYNDROME, SBBYS VARIANT; SBBYSS
OMIM:603776 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3
OMIM:603786 STARGARDT DISEASE 4; STGD4
OMIM:603813 HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH
OMIM:603829 VENTRICULAR FIBRILLATION DURING MYOCARDIAL INFARCTION, SUSCEPTIBILITY
OMIM:603830 LONG QT SYNDROME 3; LQT3
OMIM:603855 CYSTIC FIBROSIS, MODIFIER OF, 1; CFM1
OMIM:603860 MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2
OMIM:603896 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM
OMIM:603902 BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE
OMIM:603903 SICKLE CELL ANEMIA
OMIM:603909 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A
OMIM:603956 CERVICAL CANCER
OMIM:603964 DEAFNESS, AUTOSOMAL DOMINANT 16; DFNA16
OMIM:603965 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2; FSGS2
OMIM:604004 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1; MLC1
OMIM:604060 DEAFNESS, AUTOSOMAL RECESSIVE 20; DFNB20
OMIM:604091 HYPOALPHALIPOPROTEINEMIA, PRIMARY
OMIM:604093 KERATOSIS PILARIS
OMIM:604116 CONE-ROD DYSTROPHY 3; CORD3
OMIM:604117 VOHWINKEL SYNDROME, VARIANT FORM
OMIM:604129 EPIDERMOLYSIS BULLOSA PRURIGINOSA
OMIM:604131 ALPHA-THALASSEMIA
OMIM:604145 CARDIOMYOPATHY, DILATED, 1G; CMD1G
OMIM:604168 CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY
OMIM:604169 LEFT VENTRICULAR NONCOMPACTION 1; LVNC1
OMIM:604173 POIKILODERMA WITH NEUTROPENIA; PN
OMIM:604185 FACIAL PARESIS, HEREDITARY CONGENITAL, 2; HCFP2
OMIM:604187 SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; SPG10
OMIM:604213 CHUDLEY-MCCULLOUGH SYNDROME; CMCS
OMIM:604218 ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES; FENIB
OMIM:604229 PETERS ANOMALY
OMIM:604232 LEBER CONGENITAL AMAUROSIS 3; LCA3
OMIM:604233 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1; GEFSP1
OMIM:604250 HEMOCHROMATOSIS, TYPE 3; HFE3
OMIM:604271 SHORT STATURE, IDIOPATHIC, AUTOSOMAL
OMIM:604273 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;
OMIM:604278 RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL
OMIM:604286 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E
OMIM:604287 CARNEY TRIAD
OMIM:604290 ACERULOPLASMINEMIA
OMIM:604292 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME
OMIM:604302 RHEUMATOID ARTHRITIS, SYSTEMIC JUVENILE
OMIM:604307 CATARACT 2, MULTIPLE TYPES; CTRCT2
OMIM:604308 MASS SYNDROME
OMIM:604314 BLEPHAROPHIMOSIS WITH FACIAL AND GENITAL ANOMALIES AND MENTAL RETARDATION
OMIM:604317 MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL
OMIM:604320 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1; DSMA1
OMIM:604321 MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE; MCPH4
OMIM:604326 SPINOCEREBELLAR ATAXIA 12; SCA12
OMIM:604348 ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL
OMIM:604352 FEBRILE SEIZURES, FAMILIAL, 4; FEB4
OMIM:604356 DUANE RETRACTION SYNDROME 2; DURS2
OMIM:604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11
OMIM:604367 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; FPLD3
OMIM:604369 SIALURIA, FINNISH TYPE
OMIM:604370 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1
OMIM:604377 CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE
OMIM:604379 HYPOTRICHOSIS 7; HYPT7
OMIM:604381 PATENT DUCTUS ARTERIOSUS AND BICUSPID AORTIC VALVE WITH HAND ANOMALIES
OMIM:604387 NEPHRONOPHTHISIS 3; NPHP3
OMIM:604391 ATAXIA-TELANGIECTASIA-LIKE DISORDER; ATLD
OMIM:604393 LEBER CONGENITAL AMAUROSIS 4; LCA4
OMIM:604400 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5; ARVD5
OMIM:604401 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 6; ARVD6
OMIM:604403 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2; GEFSP2
OMIM:604416 PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE
OMIM:604432 SPINOCEREBELLAR ATAXIA 11; SCA11
OMIM:604454 WELANDER DISTAL MYOPATHY; WDM
OMIM:604484 HEREDITARY MOTOR AND SENSORY NEUROPATHY, PROXIMAL TYPE; HMSNP
OMIM:604498 AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL; CAMT
OMIM:604536 ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME
OMIM:604537 LEBER CONGENITAL AMAUROSIS 5; LCA5
OMIM:604559 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB; PFHB1B
OMIM:604563 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2; CMT4B2
OMIM:604571 BARE LYMPHOCYTE SYNDROME, TYPE I
OMIM:604625 TOOTH AGENESIS, SELECTIVE, 3; STHAG3
OMIM:604715 ORTHOSTATIC INTOLERANCE
OMIM:604717 DEAFNESS, AUTOSOMAL DOMINANT 20; DFNA20
OMIM:604757 CRANIOSYNOSTOSIS, TYPE 2; CRS2
OMIM:604765 CARDIOMYOPATHY, DILATED, 1I; CMD1I
OMIM:604772 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR
OMIM:604777 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5; ARCI5
OMIM:604801 MUSCULAR DYSTROPHY, CONGENITAL, 1B; MDC1B
OMIM:604802 HUNTINGTON DISEASE-LIKE 3; HDL3
OMIM:604804 MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE; MCPH3
OMIM:604805 SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT; SPG12
OMIM:604809 PANBRONCHIOLITIS, DIFFUSE
OMIM:604827 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 7; EIG7
OMIM:604841 STICKLER SYNDROME, TYPE II; STL2
OMIM:604864 OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA
OMIM:604901 NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS; NAIC
OMIM:604916 HYDRONEPHROSIS, CONGENITAL, WITH CLEFT PALATE, CHARACTERISTIC FACIES,
OMIM:604919 BECKER NEVUS SYNDROME
OMIM:604922 CORTICAL DEFECTS, WORMIAN BONES, AND DENTINOGENESIS IMPERFECTA
OMIM:604928 WOLFRAM SYNDROME 2; WFS2
OMIM:604931 CORTISONE REDUCTASE DEFICIENCY 1; CORTRD1
OMIM:605013 MICROHYDRANENCEPHALY; MHAC
OMIM:605019 HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2; FHBL2
OMIM:605021 MYOCLONIC EPILEPSY, FAMILIAL INFANTILE; FIME
OMIM:605027 LYMPHOMA, NON-HODGKIN, FAMILIAL
OMIM:605039 BOHRING-OPITZ SYNDROME; BOPS
OMIM:605041 BROOKE-SPIEGLER SYNDROME; BRSS
OMIM:605055 ALZHEIMER DISEASE, FAMILIAL EARLY-ONSET, WITH COEXISTING AMYLOID AND
OMIM:605074 RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1
OMIM:605115 HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH SEVERE EXACERBATION
OMIM:605130 HAIRY ELBOWS, SHORT STATURE, FACIAL DYSMORPHISM, AND DEVELOPMENTAL
OMIM:605192 DEAFNESS, AUTOSOMAL DOMINANT 23; DFNA23
OMIM:605229 SPASTIC PARAPLEGIA 14, AUTOSOMAL RECESSIVE; SPG14
OMIM:605249 SEBASTIAN SYNDROME; SBS
OMIM:605253 NEUROPATHY, CONGENITAL HYPOMYELINATING OR AMYELINATING, AUTOSOMAL
OMIM:605258 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2; HIGM2
OMIM:605259 SPINOCEREBELLAR ATAXIA 13; SCA13
OMIM:605274 MESOMELIC DYSPLASIA, SAVARIRAYAN TYPE
OMIM:605280 SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT; SPG13
OMIM:605282 TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME; TPBS
OMIM:605285 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE
OMIM:605289 SPLIT-HAND/FOOT MALFORMATION 4; SHFM4
OMIM:605309 MACROCEPHALY/AUTISM SYNDROME
OMIM:605321 FRONTOOCULAR SYNDROME
OMIM:605355 NEMALINE MYOPATHY 5; NEM5
OMIM:605361 SPINOCEREBELLAR ATAXIA 14; SCA14
OMIM:605362 CARDIOMYOPATHY, DILATED, 1J; CMD1J
OMIM:605373 PARAGANGLIOMAS 3; PGL3
OMIM:605376 HETEROTAXY, VISCERAL, 2, AUTOSOMAL; HTX2
OMIM:605387 CATARACT, POSTERIOR POLAR, 3; CTPP3
OMIM:605388 CEREBRAL PALSY, ATAXIC, AUTOSOMAL RECESSIVE
OMIM:605389 HYPOTRICHOSIS 1; HYPT1
OMIM:605407 SEGAWA SYNDROME, AUTOSOMAL RECESSIVE
OMIM:605419 SCHIZOPHRENIA 10; SCZD10
OMIM:605432 RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA; RUSAT
OMIM:605462 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1; BCC1
OMIM:605472 USHER SYNDROME, TYPE IIC; USH2C
OMIM:605479 CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2; BRIC2
OMIM:605543 PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4
OMIM:605549 CONE-ROD DYSTROPHY 8; CORD8
OMIM:605583 DEAFNESS, AUTOSOMAL DOMINANT 25; DFNA25
OMIM:605588 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1; CMT2B1
OMIM:605589 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2; CMT2B2
OMIM:605594 DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1
OMIM:605627 CEREBROOCULONASAL SYNDROME
OMIM:605637 INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT; IBM3
OMIM:605670 LATE-ONSET RETINAL DEGENERATION; LORD
OMIM:605676 CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA
OMIM:605685 CUTIS VERTICIS GYRATA, RETINITIS PIGMENTOSA, AND SENSORINEURAL DEAFNESS
OMIM:605711 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1; MMDS1
OMIM:605714 CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED
OMIM:605724 FANCONI ANEMIA, COMPLEMENTATION GROUP D1; FANCD1
OMIM:605726 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2; DSMA2
OMIM:605735 BLEEDING DISORDER, PLATELET-TYPE, 12; BDPLT12
OMIM:605751 SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2
OMIM:605779 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 7; NDNC7
OMIM:605808 BIRDSHOT CHORIORETINOPATHY
OMIM:605809 MYASTHENIA, FAMILIAL INFANTILE, 1
OMIM:605814 CITRULLINEMIA, TYPE II, NEONATAL-ONSET
OMIM:605820 NONAKA MYOPATHY; NM
OMIM:605822 SPONDYLOOCULAR SYNDROME, AUTOSOMAL RECESSIVE
OMIM:605827 BASALOID FOLLICULAR HAMARTOMA SYNDROME, GENERALIZED, AUTOSOMAL DOMINANT
OMIM:605850 DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY; DMGDHD
OMIM:605899 GLYCINE ENCEPHALOPATHY; GCE
OMIM:605909 PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6
OMIM:605911 3-@HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE 2 DEFICIENCY
OMIM:605967 ACROPECTORAL SYNDROME; ACRPS
OMIM:606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1; SCAR1
OMIM:606003 TRANSALDOLASE DEFICIENCY
OMIM:606053 AUTISM, SUSCEPTIBILITY TO, 5; AUTS5
OMIM:606054 PROPIONIC ACIDEMIA
OMIM:606056 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb; CDG2B
OMIM:606068 RETINITIS PIGMENTOSA 28; RP28
OMIM:606069 HEMOCHROMATOSIS, TYPE 4; HFE4
OMIM:606070 MYOPATHY, DISTAL, 2; MPD2
OMIM:606071 HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC; HMSN2C
OMIM:606072 RIPPLING MUSCLE DISEASE; RMD
OMIM:606155 FRYNS-AFTIMOS SYNDROME
OMIM:606156 SENER SYNDROME
OMIM:606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3; NBIA3
OMIM:606170 GENITOPATELLAR SYNDROME; GTPTS
OMIM:606176 DIABETES MELLITUS, PERMANENT NEONATAL; PNDM
OMIM:606183 LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY
OMIM:606217 ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2; AVSD2
OMIM:606232 CHROMOSOME 22q13.3 DELETION SYNDROME
OMIM:606242 MENTAL RETARDATION, MICROCEPHALY, GROWTH RETARDATION, JOINT CONTRACTURES,
OMIM:606243 ALVEOLAR SOFT PART SARCOMA; ASPS
OMIM:606324 PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7
OMIM:606346 DEAFNESS, AUTOSOMAL DOMINANT 22; DFNA22
OMIM:606353 PRIMARY LATERAL SCLEROSIS, JUVENILE; PLSJ
OMIM:606367 INTERLEUKIN 2 RECEPTOR, ALPHA, DEFICIENCY OF
OMIM:606369 EPILEPTIC ENCEPHALOPATHY, LENNOX-GASTAUT TYPE
OMIM:606392 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4; MODY4
OMIM:606394 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; MODY6
OMIM:606407 HYPOTONIA-CYSTINURIA SYNDROME
OMIM:606408 EHLERS-DANLOS-LIKE SYNDROME DUE TO TENASCIN-X DEFICIENCY
OMIM:606438 HUNTINGTON DISEASE-LIKE 2; HDL2
OMIM:606482 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B; CMTDIB
OMIM:606483 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A; CMTDIA
OMIM:606519 PHACE ASSOCIATION
OMIM:606528 HOMOZYGOUS 11p15-p14 DELETION SYNDROME
OMIM:606552 EPISODIC ATAXIA, TYPE 4; EA4
OMIM:606554 EPISODIC ATAXIA, TYPE 3; EA3
OMIM:606574 ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4
OMIM:606579 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1;
OMIM:606593 LIG4 SYNDROME
OMIM:606595 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F; CMT2F
OMIM:606612 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT
OMIM:606658 SPINOCEREBELLAR ATAXIA 15; SCA15
OMIM:606664 GLYCINE N-METHYLTRANSFERASE DEFICIENCY
OMIM:606685 CARDIOMYOPATHY, DILATED, 1L; CMD1L
OMIM:606688 SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES
OMIM:606690 LYMPHANGIOLEIOMYOMATOSIS; LAM
OMIM:606693 KUFOR-RAKEB SYNDROME; KRS
OMIM:606703 DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA; FDFM
OMIM:606705 DEAFNESS, AUTOSOMAL DOMINANT 36; DFNA36
OMIM:606711 SPECIFIC LANGUAGE IMPAIRMENT 1; SLI1
OMIM:606712 SPECIFIC LANGUAGE IMPAIRMENT 2; SLI2
OMIM:606719 MELANOMA-PANCREATIC CANCER SYNDROME
OMIM:606721 LIPODYSTROPHY WITH CONGENITAL CATARACTS AND NEURODEGENERATION
OMIM:606744 SECKEL SYNDROME 2; SCKL2
OMIM:606762 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6; HHF6
OMIM:606763 CILIARY DYSKINESIA, PRIMARY, 2; CILD2
OMIM:606764 GASTROINTESTINAL STROMAL TUMOR; GIST
OMIM:606768 MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET; DMAT
OMIM:606772 MENTAL RETARDATION, OBESITY, MANDIBULAR PROGNATHISM, AND EYE AND SKIN
OMIM:606777 GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1
OMIM:606785 CRIGLER-NAJJAR SYNDROME, TYPE II
OMIM:606798 BLEPHAROSPASM, BENIGN ESSENTIAL
OMIM:606812 FUMARASE DEFICIENCY
OMIM:606824 GLUCOSE/GALACTOSE MALABSORPTION; GGM
OMIM:606835 DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL; FDAB
OMIM:606840 PARASOMNIA, SLEEP BRUXISM TYPE; PSMNSB
OMIM:606842 CARDIONEUROMYOPATHY WITH HYALINE MASSES AND NEMALINE RODS
OMIM:606843 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3; HIGM3
OMIM:606851 CREE MENTAL RETARDATION SYNDROME
OMIM:606854 POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
OMIM:606864 PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
OMIM:606889 ALZHEIMER DISEASE 4
OMIM:606895 SYMPHALANGISM, DISTAL, WITH MICRODONTIA, DENTAL PULP STONES, AND NARROWED
OMIM:606937 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5; SCAR5
OMIM:606943 USHER SYNDROME, TYPE IG; USH1G
OMIM:606952 ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B
OMIM:606960 INSULINOMA TUMOR SUPPRESSOR GENE LOCUS
OMIM:606963 PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; COPD
OMIM:606966 NEPHRONOPHTHISIS 4; NPHP4
OMIM:606995 SENIOR-LOKEN SYNDROME 3; SLSN3
OMIM:606996 SENIOR-LOKEN SYNDROME 4; SLSN4
OMIM:607004 BRACHYDACTYLY, TYPE A1, B; BDA1B
OMIM:607014 HURLER SYNDROME
OMIM:607015 HURLER-SCHEIE SYNDROME
OMIM:607016 SCHEIE SYNDROME
OMIM:607039 DEAFNESS, AUTOSOMAL RECESSIVE 22; DFNB22
OMIM:607060 PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8
OMIM:607078 EPIPHYSEAL DYSPLASIA, MULTIPLE, 5; EDM5
OMIM:607080 46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY
OMIM:607084 DEAFNESS, AUTOSOMAL RECESSIVE 31; DFNB31
OMIM:607088 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 3; DSMA3
OMIM:607091 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId; CDG2D
OMIM:607095 ANAUXETIC DYSPLASIA
OMIM:607101 DEAFNESS, AUTOSOMAL RECESSIVE 30; DFNB30
OMIM:607107 NASOPHARYNGEAL CARCINOMA
OMIM:607115 CINCA SYNDROME; CINCA
OMIM:607131 MACROCEPHALY WITH MULTIPLE EPIPHYSEAL DYSPLASIA AND DISTINCTIVE FACIES
OMIM:607136 SPINOCEREBELLAR ATAXIA 17; SCA17
OMIM:607143 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig; CDG1G
OMIM:607152 SPASTIC PARAPLEGIA 19, AUTOSOMAL DOMINANT; SPG19
OMIM:607155 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5
OMIM:607161 MULTIPLE CONGENITAL ANOMALIES SYNDROME WITH CLOVERLEAF SKULL
OMIM:607174 MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
OMIM:607196 MICROCEPHALY, AMISH TYPE; MCPHA
OMIM:607200 THYROID DYSHORMONOGENESIS 6; TDH6
OMIM:607208 DRAVET SYNDROME
OMIM:607214 ANONYCHIA, TOTAL, WITH MICROCEPHALY
OMIM:607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP
OMIM:607236 HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA,
OMIM:607250 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY;
OMIM:607259 SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG7
OMIM:607271 CASPASE 8 DEFICIENCY
OMIM:607313 GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS; HGPPS
OMIM:607317 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4; SCAR4
OMIM:607323 DUANE-RADIAL RAY SYNDROME; DRRS
OMIM:607326 SMITH-MCCORT DYSPLASIA; SMC
OMIM:607330 LATHOSTEROLOSIS
OMIM:607341 FOCAL CORTICAL DYSPLASIA OF TAYLOR; FCDT
OMIM:607346 SPINOCEREBELLAR ATAXIA 19; SCA19
OMIM:607361 MECKEL SYNDROME, TYPE 3; MKS3
OMIM:607364 BARTTER SYNDROME, TYPE 3
OMIM:607371 DYSTONIA, JUVENILE-ONSET
OMIM:607373 AUTISM, SUSCEPTIBILITY TO, 8; AUTS8
OMIM:607398 GLUCOCORTICOID DEFICIENCY 2; GCCD2
OMIM:607411 PATENT DUCTUS ARTERIOSUS
OMIM:607417 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2; MRT2
OMIM:607426 COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1
OMIM:607432 LISSENCEPHALY 1; LIS1
OMIM:607450 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; ARVD8
OMIM:607453 DEAFNESS, AUTOSOMAL DOMINANT 44; DFNA44
OMIM:607454 SPINOCEREBELLAR ATAXIA 21; SCA21
OMIM:607458 SPINOCEREBELLAR ATAXIA 18; SCA18
OMIM:607459 SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO
OMIM:607473 VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2; VKCFD2
OMIM:607475 BOTHNIA RETINAL DYSTROPHY
OMIM:607476 NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD
OMIM:607482 CARDIOMYOPATHY, DILATED, 1M; CMD1M
OMIM:607483 THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE
OMIM:607485 FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
OMIM:607487 CARDIOMYOPATHY, DILATED, 1N; CMD1N
OMIM:607488 DYSTONIA 15, MYOCLONIC; DYT15
OMIM:607498 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 3
OMIM:607499 BULIMIA NERVOSA, SUSCEPTIBILITY TO, 1; BULN1
OMIM:607501 MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO, 4
OMIM:607508 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 5
OMIM:607516 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 6
OMIM:607541 CORNEAL DYSTROPHY, AVELLINO TYPE; CDA
OMIM:607552 MINICORE MYOPATHY, ANTENATAL ONSET, WITH ARTHROGRYPOSIS
OMIM:607554 ATRIAL FIBRILLATION, FAMILIAL, 3; ATFB3
OMIM:607565 SPASTIC PARAPLEGIA, ATAXIA, AND MENTAL RETARDATION
OMIM:607569 MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT
OMIM:607578 BREATH-HOLDING SPELLS
OMIM:607584 SPASTIC PARAPLEGIA 24, AUTOSOMAL RECESSIVE; SPG24
OMIM:607594 IMMUNODEFICIENCY, COMMON VARIABLE, 1; CVID1
OMIM:607595 BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE
OMIM:607596 PONTOCEREBELLAR HYPOPLASIA, TYPE 1A; PCH1A
OMIM:607597 MICROPHTHALMIA WITH CYST, BILATERAL FACIAL CLEFTS, AND LIMB ANOMALIES
OMIM:607598 LETHAL CONGENITAL CONTRACTURE SYNDROME 2; LCCS2
OMIM:607600 EPIDERMOLYSIS BULLOSA SIMPLEX SUPERFICIALIS; EBSS
OMIM:607602 ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS
OMIM:607616 NIEMANN-PICK DISEASE, TYPE B
OMIM:607624 GRISCELLI SYNDROME, TYPE 2; GS2
OMIM:607625 NIEMANN-PICK DISEASE, TYPE C2
OMIM:607626 ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS
OMIM:607628 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11; EIG11
OMIM:607631 EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1; EJA1
OMIM:607634 OSTEOPETROSIS, AUTOSOMAL DOMINANT 1; OPTA1
OMIM:607636 VAN BUCHEM DISEASE, TYPE 2
OMIM:607641 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB; HMN7B
OMIM:607654 KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3
OMIM:607655 SKIN FRAGILITY-WOOLLY HAIR SYNDROME; SFWHS
OMIM:607665 TUBULOINTERSTITIAL NEPHRITIS WITH UVEITIS; TINU
OMIM:607671 DYSTONIA 13, TORSION, AUTOSOMAL DOMINANT; DYT13
OMIM:607674 CATARACT, CONGENITAL, WITH MENTAL IMPAIRMENT AND DENTATE GYRUS ATROPHY
OMIM:607676 IRAK4 DEFICIENCY
OMIM:607677 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I; CMT2I
OMIM:607678 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D
OMIM:607681 EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; ECA2
OMIM:607682 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; EIG9
OMIM:607684 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E; CMT2E
OMIM:607685 HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC; HES
OMIM:607688 PARKINSON DISEASE 11, AUTOSOMAL DOMINANT; PARK11
OMIM:607694 LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR
OMIM:607706 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL
OMIM:607721 NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR; NSLH
OMIM:607731 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2H; CMT2H
OMIM:607734 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F; CMT1F
OMIM:607736 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J; CMT2J
OMIM:607745 SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3
OMIM:607748 HYPERCHOLANEMIA, FAMILIAL; FHCA
OMIM:607765 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1; CBAS1
OMIM:607778 ACROCAPITOFEMORAL DYSPLASIA; ACFD
OMIM:607785 JUVENILE MYELOMONOCYTIC LEUKEMIA; JMML
OMIM:607791 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D; CMTDID
OMIM:607801 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C; LGMD1C
OMIM:607812 CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD
OMIM:607821 DEAFNESS, AUTOSOMAL RECESSIVE 37; DFNB37
OMIM:607822 ALZHEIMER DISEASE 3
OMIM:607823 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME; HLTS
OMIM:607829 MITRAL VALVE PROLAPSE, MYXOMATOUS 2; MMVP2
OMIM:607831 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; CMT2K
OMIM:607832 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO; FSGS3
OMIM:607841 DEAFNESS, AUTOSOMAL DOMINANT 48; DFNA48
OMIM:607842 AURAL ATRESIA, CONGENITAL; CAA
OMIM:607847 NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS
OMIM:607850 OSTEOARTHRITIS SUSCEPTIBILITY 3; OS3
OMIM:607855 MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A
OMIM:607859 ANGIOMA, TUFTED
OMIM:607864 CAUDAL DUPLICATION ANOMALY
OMIM:607872 CHROMOSOME 1p36 DELETION SYNDROME
OMIM:607876 EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2
OMIM:607903 HYPOTRICHOSIS 6; HYPT6
OMIM:607906 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii; CDG1I
OMIM:607907 DERMATOFIBROSARCOMA PROTUBERANS; DFSP
OMIM:607921 RETINITIS PIGMENTOSA 30; RP30
OMIM:607932 MICROPHTHALMIA, SYNDROMIC 6; MCOPS6
OMIM:607936 EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF
OMIM:607941 ATRIAL SEPTAL DEFECT 2; ASD2
OMIM:607944 SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI
OMIM:608013 GAUCHER DISEASE, PERINATAL LETHAL
OMIM:608022 DIAPHANOSPONDYLODYSOSTOSIS
OMIM:608027 PONTOCEREBELLAR HYPOPLASIA, TYPE 3; PCH3
OMIM:608028 THAI SYMPHALANGISM SYNDROME
OMIM:608029 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 6; SCAR6
OMIM:608030 AMYOTROPHIC LATERAL SCLEROSIS 6, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA;
OMIM:608033 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3; IIAE3
OMIM:608049 AUTISM, SUSCEPTIBILITY TO, 3; AUTS3
OMIM:608051 MACULAR DYSTROPHY, RETINAL, 2; MCDR2
OMIM:608068 NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE
OMIM:608088 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, WITH COUGH AND
OMIM:608089 ENDOMETRIAL CANCER
OMIM:608091 JOUBERT SYNDROME 2; JBTS2
OMIM:608093 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J
OMIM:608096 EPILEPSY, FAMILIAL TEMPORAL LOBE, 2; ETL2
OMIM:608097 HETEROTOPIA, PERIVENTRICULAR, AUTOSOMAL RECESSIVE
OMIM:608099 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D; LGMD2D
OMIM:608104 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih; CDG1H
OMIM:608105 EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND
OMIM:608106 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5; HIGM5
OMIM:608115 OVARIAN HYPERSTIMULATION SYNDROME
OMIM:608118 ZINC DEFICIENCY, TRANSIENT NEONATAL; TNZD
OMIM:608133 RETINITIS PIGMENTOSA 7; RP7
OMIM:608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT
OMIM:608156 NABLUS MASK-LIKE FACIAL SYNDROME; NMLFS
OMIM:608161 MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSET
OMIM:608175 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3; AITD3
OMIM:608180 SYNPOLYDACTYLY 2; SPD2
OMIM:608184 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 4; HIGM4
OMIM:608189 TROPICAL CALCIFIC PANCREATITIS
OMIM:608194 CONE-ROD DYSTROPHY 13; CORD13
OMIM:608203 NEUTROPHIL IMMUNODEFICIENCY SYNDROME
OMIM:608217 SEIZURES, BENIGN FAMILIAL NEONATAL, 3; BFNS3
OMIM:608219 DEAFNESS, AUTOSOMAL RECESSIVE 38; DFNB38
OMIM:608227 CRANIOFACIAL ABNORMALITIES, CATARACTS, CONGENITAL HEART DISEASE, SACRAL
OMIM:608232 LEUKEMIA, CHRONIC MYELOID; CML
OMIM:608233 HERMANSKY-PUDLAK SYNDROME 2; HPS2
OMIM:608236 SLOWED NERVE CONDUCTION VELOCITY, AUTOSOMAL DOMINANT
OMIM:608244 OTOSCLEROSIS 3; OTSC3
OMIM:608257 MANDIBULOFACIAL DYSOSTOSIS WITH PTOSIS, AUTOSOMAL DOMINANT
OMIM:608264 DEAFNESS, AUTOSOMAL RECESSIVE 40; DFNB40
OMIM:608265 DEAFNESS, AUTOSOMAL RECESSIVE 39; DFNB39
OMIM:608266 PARATHYROID CARCINOMA
OMIM:608278 GROWTH FAILURE, MICROCEPHALY, MENTAL RETARDATION, CATARACTS, LARGE
OMIM:608279 CRANIOSYNOSTOSIS WITH OCULAR ABNORMALITIES AND HALLUCAL DEFECTS
OMIM:608320 CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1; ADCAD1
OMIM:608323 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C; CMTDIC
OMIM:608328 WEILL-MARCHESANI SYNDROME 2; WMS2
OMIM:608340 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A; CMTRIA
OMIM:608345 NYSTAGMUS 3, CONGENITAL, AUTOSOMAL DOMINANT; NYS3
OMIM:608354 CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION
OMIM:608355 PARKES WEBER SYNDROME
OMIM:608358 MYOPATHY, MYOSIN STORAGE
OMIM:608361 SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE
OMIM:608363 CHROMOSOME 22q11.2 DUPLICATION SYNDROME
OMIM:608367 MYOPIA 17, AUTOSOMAL DOMINANT; MYP17
OMIM:608372 DEAFNESS, AUTOSOMAL DOMINANT 49; DFNA49
OMIM:608380 RETINITIS PIGMENTOSA 26; RP26
OMIM:608389 BRANCHIOOTIC SYNDROME 3; BOS3
OMIM:608390 MYOTONIA, POTASSIUM-AGGRAVATED
OMIM:608393 MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE; MCPH6
OMIM:608404 PLATELET GLYCOPROTEIN IV DEFICIENCY
OMIM:608406 VATER-LIKE DEFECTS WITH PULMONARY HYPERTENSION, LARYNGEAL WEBS, AND
OMIM:608415 PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION; PERRS
OMIM:608423 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F; LGMD1F
OMIM:608432 CRANIOSYNOSTOSIS, CALCIFICATION OF BASAL GANGLIA, AND FACIAL DYSMORPHISM
OMIM:608443 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3; MRT3
OMIM:608454 KNOBLOCH SYNDROME 2; KNO2
OMIM:608456 FAMILIAL ADENOMATOUS POLYPOSIS, 2; FAP2
OMIM:608470 CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE I; CDB1
OMIM:608471 CORNEAL DYSTROPHY, LATTICE TYPE IIIA; CDL3A
OMIM:608474 MYOPIA 5, AUTOSOMAL DOMINANT; MYP5
OMIM:608484 CONGENITAL CORNEAL OPACITIES, CORNEA GUTTATA, AND CORECTOPIA
OMIM:608540 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K
OMIM:608545 LARSEN-LIKE SYNDROME
OMIM:608553 LEBER CONGENITAL AMAUROSIS 9; LCA9
OMIM:608565 DEAFNESS, AUTOSOMAL RECESSIVE 35; DFNB35
OMIM:608567 SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE; SSS1
OMIM:608569 CARDIOMYOPATHY, DILATED, 1O; CMD1O
OMIM:608571 ULNAR/FIBULAR RAY DEFECT AND BRACHYDACTYLY
OMIM:608572 BURN-MCKEOWN SYNDROME
OMIM:608578 CEREBROFRONTOFACIAL SYNDROME
OMIM:608579 SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO
OMIM:608583 ATRIAL FIBRILLATION, FAMILIAL, 1; ATFB1
OMIM:608591 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G; CMT2G
OMIM:608594 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1
OMIM:608600 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 1; FPLD1
OMIM:608611 RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY
OMIM:608612 MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB
OMIM:608615 OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS
OMIM:608622 HYPERTENSION, DIASTOLIC, RESISTANCE TO
OMIM:608624 MIDFACE HYPOPLASIA, OBESITY, DEVELOPMENTAL DELAY, AND NEONATAL HYPOTONIA
OMIM:608627 AMYOTROPHIC LATERAL SCLEROSIS 8; ALS8
OMIM:608629 JOUBERT SYNDROME 3; JBTS3
OMIM:608631 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2
OMIM:608634 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB; HMN2B
OMIM:608636 CHROMOSOME 15q11-q13 DUPLICATION SYNDROME
OMIM:608638 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 1
OMIM:608641 DEAFNESS, AUTOSOMAL DOMINANT 28; DFNA28
OMIM:608643 AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
OMIM:608644 CILIARY DYSKINESIA, PRIMARY, 3; CILD3
OMIM:608647 CILIARY DYSKINESIA, PRIMARY, 5; CILD5
OMIM:608649 ICHTHYOSIS PREMATURITY SYNDROME; IPS
OMIM:608654 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V; HSAN5
OMIM:608673 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L; CMT2L
OMIM:608681 SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE; SCDO2
OMIM:608687 SPINOCEREBELLAR ATAXIA 20; SCA20
OMIM:608688 AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY
OMIM:608703 SPINOCEREBELLAR ATAXIA 25; SCA25
OMIM:608709 LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO; APLD
OMIM:608710 WEGENER GRANULOMATOSIS
OMIM:608716 MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5
OMIM:608720 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, ADULT-ONSET, WITH ANOSMIA
OMIM:608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED
OMIM:608747 INSULIN-LIKE GROWTH FACTOR I DEFICIENCY
OMIM:608751 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8; CMH8
OMIM:608758 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10; CMH10
OMIM:608762 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 3; EIG3
OMIM:608763 EHLERS-DANLOS SYNDROME, BEASLEY-COHEN TYPE
OMIM:608768 SPINOCEREBELLAR ATAXIA 8; SCA8
OMIM:608776 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il; CDG1L
OMIM:608779 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe; CDG2E
OMIM:608782 PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY; PDHPD
OMIM:608799 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E
OMIM:608800 SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME; SIDDT
OMIM:608804 LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2
OMIM:608805 AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY
OMIM:608807 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J; LGMD2J
OMIM:608808 TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1; DTGA1
OMIM:608809 LEUKOENCEPHALOPATHY, ARTHRITIS, COLITIS, AND HYPOGAMMAGLOBULINEMA;
OMIM:608810 MYOPATHY, MYOFIBRILLAR, 2, MFM2
OMIM:608836 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
OMIM:608837 CARNEY COMPLEX VARIANT
OMIM:608840 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),
OMIM:608864 OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6
OMIM:608874 OROFACIAL CLEFT 5; OFC5
OMIM:608890 WAARDENBURG SYNDROME, TYPE 2D; WS2D
OMIM:608895 MACULAR DEGENERATION, AGE-RELATED, 3; ARMD3
OMIM:608898 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3
OMIM:608902 DRUG METABOLISM, POOR, CYP2D6-RELATED
OMIM:608930 MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL
OMIM:608931 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR
OMIM:608940 SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY; SMDCRD
OMIM:608957 CD8 DEFICIENCY, FAMILIAL
OMIM:608967 LOEYS-DIETZ SYNDROME, TYPE 2A; LDS2A
OMIM:608971 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,
OMIM:608978 MEACHAM SYNDROME
OMIM:608980 BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES; BNAR
OMIM:608984 ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1
OMIM:608995 DYSLEXIA, SUSCEPTIBILITY TO, 8; DYX8
OMIM:608996 PREMATURE OVARIAN FAILURE 3; POF3
OMIM:609006 DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT;
OMIM:609008 MARFANOID HABITUS WITH SITUS INVERSUS
OMIM:609015 TRIFUNCTIONAL PROTEIN DEFICIENCY
OMIM:609016 LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY
OMIM:609021 PERIPHERAL CONE DYSTROPHY
OMIM:609029 EMANUEL SYNDROME
OMIM:609033 POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA; AXPC1
OMIM:609037 MENTAL RETARDATION WITH OPTIC ATROPHY, FACIAL DYSMORPHISM, MICROCEPHALY,
OMIM:609039 NARCOLEPSY 3; NRCLP3
OMIM:609040 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; ARVD9
OMIM:609041 SPASTIC PARAPLEGIA 27, AUTOSOMAL RECESSIVE; SPG27
OMIM:609048 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3; CMM3
OMIM:609049 PIERSON SYNDROME
OMIM:609052 SPONDYLOMETAPHYSEAL DYSPLASIA, TYPE A4
OMIM:609053 FANCONI ANEMIA, COMPLEMENTATION GROUP I; FANCI
OMIM:609054 FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ
OMIM:609055 CEROID LIPOFUSCINOSIS, NEURONAL, 9; CLN9
OMIM:609056 AMISH INFANTILE EPILEPSY SYNDROME
OMIM:609057 NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS
OMIM:609060 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1; COXPD1
OMIM:609069 PANCREATIC AND CEREBELLAR AGENESIS; PACA
OMIM:609115 LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G; LGMD1G
OMIM:609129 AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1; AUNA1
OMIM:609136 PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG
OMIM:609140 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2; PPCD2
OMIM:609141 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3; PPCD3
OMIM:609152 HYPERTHYROIDISM, NONAUTOIMMUNE
OMIM:609161 STRIATAL DEGENERATION, AUTOSOMAL DOMINANT; ADSD
OMIM:609162 CZECH DYSPLASIA
OMIM:609165 ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR; CRIE
OMIM:609166 BRANCHIOGENIC-DEAFNESS SYNDROME
OMIM:609180 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If; CDG1F
OMIM:609192 LOEYS-DIETZ SYNDROME, TYPE 1A; LDS1A
OMIM:609195 SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE; SPG26
OMIM:609197 GLUCOCORTICOID DEFICIENCY 3; GCCD3
OMIM:609200 MYOPATHY, MYOFIBRILLAR, 3; MFM3
OMIM:609220 BRUCK SYNDROME 2; BRKS2
OMIM:609222 DANDY-WALKER MALFORMATION WITH OCCIPITAL CEPHALOCELE, AUTOSOMAL DOMINANT;
OMIM:609223 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE, LEROY-SPRANGER
OMIM:609227 GRISCELLI SYNDROME, TYPE 3; GS3
OMIM:609241 SCHINDLER DISEASE, TYPE I
OMIM:609242 KANZAKI DISEASE
OMIM:609253 FEBRILE SEIZURES, FAMILIAL, 6; FEB6
OMIM:609254 SENIOR-LOKEN SYNDROME 5; SLSN5
OMIM:609255 FEBRILE SEIZURES, FAMILIAL, 5; FEB5
OMIM:609260 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2; CMT2A2
OMIM:609265 LI-FRAUMENI SYNDROME 2; LFS2
OMIM:609270 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7; SCAR7
OMIM:609273 NEMALINE MYOPATHY 6; NEM6
OMIM:609283 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,
OMIM:609284 NEMALINE MYOPATHY 1; NEM1
OMIM:609285 NEMALINE MYOPATHY 4; NEM4
OMIM:609286 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,
OMIM:609304 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3; EIEE3
OMIM:609306 SPINOCEREBELLAR ATAXIA 26; SCA26
OMIM:609307 SPINOCEREBELLAR ATAXIA 27; SCA27
OMIM:609308 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MDDGC1
OMIM:609310 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2
OMIM:609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H
OMIM:609322 RHABDOID TUMOR PREDISPOSITION SYNDROME 1; RTPS1
OMIM:609324 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH SEVERE PROXIMAL FEMORAL DYSPLASIA
OMIM:609325 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MINIEPIPHYSES
OMIM:609338 CAROTID INTIMAL MEDIAL THICKNESS 1
OMIM:609340 SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE; SPG28
OMIM:609345 CEREBRORENODIGITAL SYNDROME WITH LIMB MALFORMATIONS AND TRIRADIATE
OMIM:609352 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA
OMIM:609384 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3C; CFEOM3C
OMIM:609404 PREECLAMPSIA/ECLAMPSIA 4; PEE4
OMIM:609425 CHROMOSOME 3q29 DELETION SYNDROME
OMIM:609428 TUKEL SYNDROME
OMIM:609432 SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION; MSSD
OMIM:609438 MENTAL RETARDATION, KERATOCONUS, FEBRILE SEIZURES, AND SINOATRIAL
OMIM:609439 DEAFNESS, AUTOSOMAL RECESSIVE 48; DFNB48
OMIM:609441 CHONDRODYSPLASIA, ACROMESOMELIC, WITH GENITAL ANOMALIES
OMIM:609442 VALPROATE EMBRYOPATHY, SUSCEPTIBILITY TO
OMIM:609446 GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA; GEPD
OMIM:609452 MYOPATHY, MYOFIBRILLAR, 4; MFM4
OMIM:609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2; PSNP2
OMIM:609456 MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE
OMIM:609460 GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME
OMIM:609464 SARCOIDOSIS, EARLY-ONSET
OMIM:609465 AL-GAZALI SYNDROME
OMIM:609500 MYOPATHY, AUTOPHAGIC VACUOLAR, INFANTILE-ONSET
OMIM:609508 STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR
OMIM:609524 MYOPATHY, MYOFIBRILLAR, 5; MFM5
OMIM:609528 CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA
OMIM:609529 IMMUNOGLOBULIN A DEFICIENCY 2; IGAD2
OMIM:609533 DEAFNESS, AUTOSOMAL RECESSIVE 23; DFNB23
OMIM:609536 COMPLEMENT COMPONENT 5 DEFICIENCY; C5D
OMIM:609541 SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY; SPOAN
OMIM:609549 NANOPHTHALMOS 2; NNO2
OMIM:609560 MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE); MTDPS2
OMIM:609566 PARIETAL FORAMINA 3; PFM3
OMIM:609579 SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
OMIM:609583 JOUBERT SYNDROME 4; JBTS4
OMIM:609597 PARIETAL FORAMINA 2; PFM2
OMIM:609616 SPONDYLOMEGAEPIPHYSEAL DYSPLASIA WITH UPPER LIMB MESOMELIA, PUNCTATE
OMIM:609620 SHORT QT SYNDROME 1; SQT1
OMIM:609621 SHORT QT SYNDROME 2; SQT2
OMIM:609622 SHORT QT SYNDROME 3; SQT3
OMIM:609625 CHROMOSOME 10q26 DELETION SYNDROME
OMIM:609628 MAJEED SYNDROME
OMIM:609634 MIGRAINE, FAMILIAL HEMIPLEGIC, 3; FHM3
OMIM:609636 ALZHEIMER DISEASE 10
OMIM:609637 HOLOPROSENCEPHALY 5; HPE5
OMIM:609638 EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC
OMIM:609640 FRIAS SYNDROME
OMIM:609646 DEAFNESS, AUTOSOMAL RECESSIVE 42; DFNB42
OMIM:609647 DEAFNESS, AUTOSOMAL RECESSIVE 46; DFNB46
OMIM:609649 TRICHILEMMAL CYST 1; TRICY1
OMIM:609654 SHORT STATURE AND FACIOAURICULOTHORACIC MALFORMATIONS
OMIM:609655 TALO-PATELLO-SCAPHOID OSTEOLYSIS, SYNOVITIS, AND SHORT FOURTH METACARPALS
OMIM:609698 THYROID HORMONE METABOLISM, ABNORMAL
OMIM:609706 DEAFNESS, AUTOSOMAL RECESSIVE 53; DFNB53
OMIM:609727 SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT; SPG29
OMIM:609734 PROOPIOMELANOCORTIN DEFICIENCY
OMIM:609741 CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2; CATCN2
OMIM:609796 PEELING SKIN SYNDROME, ACRAL TYPE
OMIM:609800 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 4; GEFSP4
OMIM:609808 HAMARTOMA, PRECALCANEAL CONGENITAL FIBROLIPOMATOUS
OMIM:609812 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION;
OMIM:609813 SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE; SCDO3
OMIM:609814 COMPLEMENT FACTOR H DEFICIENCY; CFHD
OMIM:609817 VASCULITIS, LYMPHOCYTIC, CUTANEOUS SMALL VESSEL
OMIM:609820 ERYTHROCYTOSIS, FAMILIAL, 3; ECYT3
OMIM:609821 BLEEDING DISORDER, PLATELET-TYPE, 8; BDPLT8
OMIM:609823 DEAFNESS, AUTOSOMAL RECESSIVE 28; DFNB28
OMIM:609886 GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA
OMIM:609887 GLAUCOMA 1, OPEN ANGLE, G; GLC1G
OMIM:609889 ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE
OMIM:609909 CARDIOMYOPATHY, DILATED, 1P; CMD1P
OMIM:609923 RETINITIS PIGMENTOSA 31; RP31
OMIM:609924 AMINOACYLASE 1 DEFICIENCY
OMIM:609939 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 6; SLEB6
OMIM:609941 DEAFNESS, AUTOSOMAL RECESSIVE 51; DFNB51
OMIM:609942 NOONAN SYNDROME 3; NS3
OMIM:609943 HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE
OMIM:609944 ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVE
OMIM:609945 BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA
OMIM:609968 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5; HHF5
OMIM:609975 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4; HHF4
OMIM:609981 NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR
OMIM:609993 OSTEOSCLEROSIS WITH ICHTHYOSIS AND PREMATURE OVARIAN FAILURE
OMIM:610003 CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT
OMIM:610006 2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
OMIM:610015 GLUTAMINE DEFICIENCY, CONGENITAL
OMIM:610017 MULTIPLE SYNOSTOSES SYNDROME 2; SYNS2
OMIM:610021 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7
OMIM:610024 RETINAL CONE DYSTROPHY 3A; RCD3A
OMIM:610031 POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC; PMGYSA
OMIM:610042 CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME
OMIM:610048 CORNEAL DYSTROPHY, CONGENITAL STROMAL; CSCD
OMIM:610069 POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2
OMIM:610090 PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY
OMIM:610092 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3
OMIM:610093 MICROPHTHALMIA, ISOLATED 2; MCOP2
OMIM:610099 MYOPATHY, DISTAL, 3; MPD3
OMIM:610100 GIANT AXONAL NEUROPATHY, AUTOSOMAL DOMINANT
OMIM:610102 COMPLEMENT COMPONENT 7 DEFICIENCY; C7D
OMIM:610125 MICROPHTHALMIA, SYNDROMIC 5; MCOPS5
OMIM:610127 CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10
OMIM:610131 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,
OMIM:610140 HEART-HAND SYNDROME, SLOVENIAN TYPE
OMIM:610143 DEAFNESS, AUTOSOMAL RECESSIVE 62; DFNB62
OMIM:610153 DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49
OMIM:610154 DEAFNESS, AUTOSOMAL RECESSIVE 44; DFNB44
OMIM:610156 MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS
OMIM:610158 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 2; FECD2
OMIM:610163 IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA
OMIM:610168 LOEYS-DIETZ SYNDROME, TYPE 1B; LDS1B
OMIM:610181 AICARDI-GOUTIERES SYNDROME 2; AGS2
OMIM:610185 CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME
OMIM:610187 DIAPHRAGMATIC HERNIA 3
OMIM:610188 JOUBERT SYNDROME 5; JBTS5
OMIM:610189 SENIOR-LOKEN SYNDROME 6; SLSN6
OMIM:610193 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; ARVD10
OMIM:610198 3-@METHYLGLUTACONIC ACIDURIA, TYPE V; MGCA5
OMIM:610199 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM
OMIM:610202 CATARACT, PULVERULENT, JUVENILE-ONSET
OMIM:610204 PONTOCEREBELLAR HYPOPLASIA, TYPE 5; PCH5
OMIM:610205 ALAGILLE SYNDROME 2; ALGS2
OMIM:610208 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 10
OMIM:610209 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 11
OMIM:610217 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; NBIA2B
OMIM:610220 DEAFNESS, AUTOSOMAL RECESSIVE 59; DFNB59
OMIM:610227 SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS
OMIM:610244 SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT; SPG33
OMIM:610245 SPINOCEREBELLAR ATAXIA 23; SCA23
OMIM:610246 SPINOCEREBELLAR ATAXIA 28; SCA28
OMIM:610247 ESOPHAGITIS, EOSINOPHILIC, 1; EOE1
OMIM:610248 DEAFNESS, AUTOSOMAL RECESSIVE 65; DFNB65
OMIM:610250 SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT; SPG31
OMIM:610251 ALCOHOL SENSITIVITY, ACUTE
OMIM:610253 KLEEFSTRA SYNDROME
OMIM:610256 APHAKIA, CONGENITAL PRIMARY
OMIM:610265 DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67
OMIM:610279 PACHYGYRIA, FRONTOTEMPORAL
OMIM:610282 RETINITIS PIGMENTOSA 35; RP35
OMIM:610283 CONE-ROD DYSTROPHY 10; CORD10
OMIM:610293 GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY
OMIM:610297 PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13
OMIM:610313 COLD-INDUCED SWEATING SYNDROME 2; CISS2
OMIM:610319 RHIZOMELIC DYSPLASIA, SCOLIOSIS, AND RETINITIS PIGMENTOSA
OMIM:610329 AICARDI-GOUTIERES SYNDROME 3; AGS3
OMIM:610333 AICARDI-GOUTIERES SYNDROME 4; AGS4
OMIM:610338 RIGHT PULMONARY ARTERY, ANOMALOUS ORIGIN OF, FAMILIAL
OMIM:610353 EPILEPSY, NOCTURNAL FRONTAL LOBE, 4; ENFL4
OMIM:610356 RETINAL CONE DYSTROPHY 3B; RCD3B
OMIM:610357 SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE; SPG30
OMIM:610359 RETINITIS PIGMENTOSA 33; RP33
OMIM:610370 DIARRHEA 4, MALABSORPTIVE, CONGENITAL; DIAR4
OMIM:610374 DIABETES MELLITUS, TRANSIENT NEONATAL, 2
OMIM:610377 MEVALONIC ACIDURIA; MEVA
OMIM:610380 LOEYS-DIETZ SYNDROME, TYPE 2B; LDS2B
OMIM:610381 CONE-ROD DYSTROPHY 11; CORD11
OMIM:610419 DEAFNESS, AUTOSOMAL RECESSIVE 68; DFNB68
OMIM:610420 PREAURICULAR TAG, ISOLATED, AUTOSOMAL DOMINANT, 1
OMIM:610422 ALOPECIA-MENTAL RETARDATION SYNDROME 2; APMR2
OMIM:610425 CATARACT, LAMELLAR 2
OMIM:610426 MICROPHTHALMIA, ISOLATED, WITH CATARACT 4; MCOPCT4
OMIM:610427 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B; CSNB2B
OMIM:610441 TESTICULAR MICROLITHIASIS
OMIM:610442 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE
OMIM:610443 KOOLEN-DE VRIES SYNDROME; KDVS
OMIM:610444 NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3; CSNBAD3
OMIM:610445 NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1; CSNBAD1
OMIM:610448 CHILBLAIN LUPUS 1; CHBL1
OMIM:610455 TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL; NFTC
OMIM:610474 CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME
OMIM:610475 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2
OMIM:610476 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; ARVD11
OMIM:610478 RETINAL CONE DYSTROPHY 4; RCD4
OMIM:610489 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1
OMIM:610498 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2; COXPD2
OMIM:610504 PRETERM PREMATURE RUPTURE OF THE MEMBRANES; PPROM
OMIM:610505 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3; COXPD3
OMIM:610508 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7; MODY7
OMIM:610532 LEUKODYSTROPHY, HYPOMYELINATING, 5; HLD5
OMIM:610535 GLAUCOMA 1, OPEN ANGLE, M; GLC1M
OMIM:610536 MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE; MFDGA
OMIM:610539 GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
OMIM:610542 MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 1; CMSTA1
OMIM:610543 CHROMOSOME 16p13.3 DELETION SYNDROME, PROXIMAL
OMIM:610549 DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS
OMIM:610551 HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 1
OMIM:610582 DIABETES MELLITUS, TRANSIENT NEONATAL, 3
OMIM:610599 RETINITIS PIGMENTOSA 36; RP36
OMIM:610600 CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY
OMIM:610612 LEBER CONGENITAL AMAUROSIS 12; LCA12
OMIM:610618 ANGIOEDEMA, HEREDITARY, TYPE III; HAE3
OMIM:610628 HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA; HH4
OMIM:610629 DIAMOND-BLACKFAN ANEMIA 3; DBA3
OMIM:610634 CATARACT, POSTERIOR POLAR, 5; CTPP5
OMIM:610644 PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND
OMIM:610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB
OMIM:610655 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 4; HHT4
OMIM:610678 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4; COXPD4
OMIM:610680 HOLOPROSENCEPHALY, RECURRENT INFECTIONS, AND MONOCYTOSIS
OMIM:610682 OSTEOGENESIS IMPERFECTA, TYPE VII; OI7
OMIM:610687 NEMALINE MYOPATHY 7; NEM7
OMIM:610688 JOUBERT SYNDROME 6; JBTS6
OMIM:610706 DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA
OMIM:610708 OPTIC ATROPHY 5; OPA5
OMIM:610713 BRACHYDACTYLY-SYNDACTYLY SYNDROME
OMIM:610717 NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY; NLSDM
OMIM:610725 NEPHROTIC SYNDROME, TYPE 3; NPHS3
OMIM:610733 NOONAN SYNDROME 4; NS4
OMIM:610738 NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3
OMIM:610743 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; SCAR8
OMIM:610755 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV; MEN4
OMIM:610756 CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2
OMIM:610758 CEREBROOCULOFACIOSKELETAL SYNDROME 4; COFS4
OMIM:610759 CORNELIA DE LANGE SYNDROME 3; CDLS3
OMIM:610765 ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE
OMIM:610768 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M
OMIM:610773 MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY
OMIM:610797 EPIPHYSEAL DYSPLASIA, BAUMANN TYPE
OMIM:610798 IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN
OMIM:610799 INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 1; IPD1
OMIM:610828 HOLOPROSENCEPHALY 7; HPE7
OMIM:610829 HOLOPROSENCEPHALY 9; HPE9
OMIM:610832 FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN
OMIM:610840 MITRAL VALVE PROLAPSE, MYXOMATOUS 3; MMVP3
OMIM:610842 PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR
OMIM:610852 CILIARY DYSKINESIA, PRIMARY, 6; CILD6
OMIM:610878 VESICOURETERAL REFLUX 2; VUR2
OMIM:610883 POTOCKI-LUPSKI SYNDROME; PTLS
OMIM:610896 BRANCHIOOTORENAL SYNDROME 2; BOR2
OMIM:610910 PULMONARY ALVEOLAR PROTEINOSIS, ACQUIRED
OMIM:610913 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2; SMDP2
OMIM:610915 OSTEOGENESIS IMPERFECTA, TYPE VIII
OMIM:610921 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3; SMDP3
OMIM:610951 CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7
OMIM:610954 PITT-HOPKINS SYNDROME; PTHS
OMIM:610965 XFE PROGEROID SYNDROME
OMIM:610967 OSTEOGENESIS IMPERFECTA, TYPE V; OI5
OMIM:610968 OSTEOGENESIS IMPERFECTA, TYPE XI; OI11
OMIM:610978 CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS
OMIM:610984 COMPLEMENT FACTOR I DEFICIENCY; CFID
OMIM:610992 PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY
OMIM:611022 DEAFNESS, AUTOSOMAL RECESSIVE 24; DFNB24
OMIM:611031 EPISODIC KINESIGENIC DYSKINESIA 2; EKD2
OMIM:611038 MICROPHTHALMIA, ISOLATED 3; MCOP3
OMIM:611040 MICROPHTHALMIA, ISOLATED 5; MCOP5
OMIM:611067 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4; DSMA4
OMIM:611087 POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY; PMSE
OMIM:611090 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12; MRT12
OMIM:611091 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5
OMIM:611092 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6
OMIM:611093 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7; MRT7
OMIM:611102 DEAFNESS, SENSORINEURAL, AND MALE INFERTILITY
OMIM:611105 LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND
OMIM:611126 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF
OMIM:611131 RETINITIS PIGMENTOSA 37; RP37
OMIM:611134 MECKEL SYNDROME, TYPE 4; MKS4
OMIM:611147 PAROXYSMAL NONKINESIGENIC DYSKINESIA 2; PNKD2
OMIM:611174 HAMAMY SYNDROME; HMMS
OMIM:611182 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh; CDG2H
OMIM:611209 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg; CDG2G
OMIM:611225 SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE; SPG18
OMIM:611228 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J
OMIM:611252 SPASTIC PARAPLEGIA 32, AUTOSOMAL RECESSIVE; SPG32
OMIM:611263 ASPHYXIATING THORACIC DYSTROPHY 2; ATD2
OMIM:611277 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3; GEFSP3
OMIM:611283 ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
OMIM:611284 DYSTONIA, FOCAL, TASK-SPECIFIC; FTSD
OMIM:611291 SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION,
OMIM:611302 SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE; SPAX2
OMIM:611307 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L; LGMD2L
OMIM:611363 ATRIAL SEPTAL DEFECT 4; ASD4
OMIM:611364 MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 4; EJM4
OMIM:611369 LETHAL CONGENITAL CONTRACTURE SYNDROME 3; LCCS3
OMIM:611376 MUNGAN SYNDROME; MGS
OMIM:611377 BRACHYDACTYLY, TYPE B2; BDB2
OMIM:611383 USHER SYNDROME, TYPE IID; USH2D
OMIM:611390 SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE; SPAX3
OMIM:611391 CATARACT, CORTICAL, JUVENILE-ONSET
OMIM:611407 CARDIOMYOPATHY, DILATED, 1W; CMD1W
OMIM:611426 TENTED EYEBROWS
OMIM:611431 LEGIUS SYNDROME
OMIM:611451 DEAFNESS, AUTOSOMAL RECESSIVE 63; DFNB63
OMIM:611465 GALLBLADDER DISEASE 4; GBD4
OMIM:611489 CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY
OMIM:611490 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4; OPTB4
OMIM:611493 ATRIAL FIBRILLATION, FAMILIAL, 4; ATFB4
OMIM:611497 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6; OPTB6
OMIM:611498 NEPHRONOPHTHISIS 7; NPHP7
OMIM:611521 TYROSINE KINASE 2 DEFICIENCY
OMIM:611523 PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6
OMIM:611528 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12
OMIM:611544 CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3; CATCN3
OMIM:611548 PREMATURE OVARIAN FAILURE 5; POF5
OMIM:611553 NOONAN SYNDROME 5; NS5
OMIM:611554 LEOPARD SYNDROME 2
OMIM:611556 GLYCOGEN STORAGE DISEASE 0, MUSCLE
OMIM:611560 JOUBERT SYNDROME 7; JBTS7
OMIM:611561 MECKEL SYNDROME, TYPE 5; MKS5
OMIM:611571 OTOSCLEROSIS 4; OTSC4
OMIM:611572 OTOSCLEROSIS 7; OTSC7
OMIM:611584 WAARDENBURG SYNDROME, TYPE 2E; WS2E
OMIM:611588 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4; MDDGC4
OMIM:611590 RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA
OMIM:611597 CATARACT, AUTOSOMAL DOMINANT, MULTIPLE TYPES 1
OMIM:611603 LISSENCEPHALY 3; LIS3
OMIM:611615 CARDIOMYOPATHY, DILATED, 1X; CMD1X
OMIM:611630 EPILEPSY, FAMILIAL TEMPORAL LOBE, 3; ETL3
OMIM:611631 EPILEPSY, FAMILIAL TEMPORAL LOBE, 4; ETL4
OMIM:611634 FEBRILE SEIZURES, FAMILIAL, 9; FEB9
OMIM:611637 PRIMARY LATERAL SCLEROSIS, ADULT, 1; PLSA1
OMIM:611638 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5; MCOPCB5
OMIM:611694 DYSTONIA WITH CEREBELLAR ATROPHY; DYTCA
OMIM:611702 SPONDYLOMETAPHYSEAL DYSPLASIA, EAST AFRICAN TYPE
OMIM:611705 MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY
OMIM:611717 SPONDYLOEPIPHYSEAL DYSPLASIA-BRACHYDACTYLY AND DISTINCTIVE SPEECH
OMIM:611718 HYPOMAGNESEMIA 4, RENAL; HOMG4
OMIM:611719 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5; COXPD5
OMIM:611721 COMBINED SAPOSIN DEFICIENCY
OMIM:611722 KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY
OMIM:611726 EPILEPSY, PROGRESSIVE MYOCLONIC 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS;
OMIM:611755 LEBER CONGENITAL AMAUROSIS 10; LCA10
OMIM:611762 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2; FCAS2
OMIM:611771 LIPOPROTEIN GLOMERULOPATHY; LPG
OMIM:611773 ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS;
OMIM:611775 KAWASAKI DISEASE
OMIM:611777 BRUGADA SYNDROME 2; BRGDA2
OMIM:611783 ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4
OMIM:611788 AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6
OMIM:611804 ELLIPTOCYTOSIS 1; EL1
OMIM:611808 TREMOR, HEREDITARY ESSENTIAL, AND IDIOPATHIC NORMAL PRESSURE HYDROCEPHALUS;
OMIM:611809 BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB
OMIM:611812 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS;
OMIM:611816 TEMPLE-BARAITSER SYNDROME
OMIM:611818 LONG QT SYNDROME 9; LQT9
OMIM:611819 LONG QT SYNDROME 10; LQT10
OMIM:611820 LONG QT SYNDROME 11; LQT11
OMIM:611863 MICROTIA WITH NASOLACRIMAL DUCT IMPERFORATION AND EYE COLOBOMA
OMIM:611867 CHROMOSOME 22q11.2 DELETION SYNDROME, DISTAL
OMIM:611875 BRUGADA SYNDROME 3; BRGDA3
OMIM:611876 BRUGADA SYNDROME 4; BRGDA4
OMIM:611878 CARDIOMYOPATHY, DILATED, 1Y; CMD1Y
OMIM:611879 CARDIOMYOPATHY, DILATED, 1Z; CMD1Z
OMIM:611880 CARDIOMYOPATHY, DILATED, 2A; CMD2A
OMIM:611881 GLYCOGEN STORAGE DISEASE XII; GSD12
OMIM:611884 CILIARY DYSKINESIA, PRIMARY, 7; CILD7
OMIM:611890 LETHAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE; LAAHD
OMIM:611895 AMYOTROPHIC LATERAL SCLEROSIS 9; ALS9
OMIM:611907 EPISODIC ATAXIA, TYPE 7; EA7
OMIM:611913 CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
OMIM:611926 IMMUNODEFICIENCY, OVARIAN DYSGENESIS, AND PULMONARY FIBROSIS
OMIM:611929 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE III
OMIM:611936 CHROMOSOME 3q29 DUPLICATION SYNDROME
OMIM:611938 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2; CPVT2
OMIM:611943 RIDDLE SYNDROME
OMIM:611944 LYMPHEDEMA, HEREDITARY, IB
OMIM:611945 SPASTIC PARAPLEGIA 37, AUTOSOMAL DOMINANT; SPG37
OMIM:611953 MACULAR DEGENERATION, AGE-RELATED, 11; ARMD11
OMIM:611961 STEVENSON-CAREY SYNDROME
OMIM:611962 HUNTER-MACDONALD SYNDROME
OMIM:612001 CHROMOSOME 15q13.3 DELETION SYNDROME
OMIM:612004 THROMBOCYTOPENIA 4; THC4
OMIM:612015 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In; CDG1N
OMIM:612016 COENZYME Q10 DEFICIENCY, PRIMARY, 4; COQ10D4
OMIM:612018 CATARACT, JUVENILE, WITH MICROCORNEA AND GLUCOSURIA
OMIM:612020 SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE; SPG39
OMIM:612067 DYSTONIA 16; DYT16
OMIM:612069 AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA;
OMIM:612073 MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH METHYLMALONIC
OMIM:612075 MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH
OMIM:612076 HYPOURICEMIA, RENAL, 2; RHUC2
OMIM:612079 ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME
OMIM:612089 HYPOPHOSPHATEMIC RICKETS AND HYPERPARATHYROIDISM
OMIM:612095 RETINITIS PIGMENTOSA 41; RP41
OMIM:612096 OTOSCLEROSIS 8; OTSC8
OMIM:612097 DEAFNESS, UNILATERAL, WITH DELAYED ENDOLYMPHATIC HYDROPS
OMIM:612098 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11; CMH11
OMIM:612109 OCULOAURICULAR SYNDROME
OMIM:612119 TREHALASE DEFICIENCY
OMIM:612124 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12; CMH12
OMIM:612126 GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS2
OMIM:612132 ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL
OMIM:612138 EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA
OMIM:612158 CARDIOMYOPATHY, DILATED, 1AA; CMD1AA
OMIM:612164 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4
OMIM:612198 DIASTASIS RECTI AND WEAKNESS OF THE LINEA ALBA
OMIM:612199 CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS; CRMCC
OMIM:612201 ATRIAL FIBRILLATION, FAMILIAL, 6; ATFB6
OMIM:612219 EWING SARCOMA; ES
OMIM:612225 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9; MODY9
OMIM:612227 DIABETES MELLITUS, KETOSIS-PRONE; KPD
OMIM:612229 COLORECTAL CANCER, SUSCEPTIBILITY TO, 3; CRCS3
OMIM:612233 LEUKODYSTROPHY, HYPOMYELINATING, 4; HLD4
OMIM:612240 ATRIAL FIBRILLATION, FAMILIAL, 7; ATFB7
OMIM:612244 INFLAMMATORY BOWEL DISEASE 13; IBD13
OMIM:612247 CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS; CAN
OMIM:612260 MYD88 DEFICIENCY; MYD88D
OMIM:612269 EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5; ECA5
OMIM:612271 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 11; SHEP11
OMIM:612278 INFLAMMATORY BOWEL DISEASE 19; IBD19
OMIM:612281 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6; ARCI6
OMIM:612284 MECKEL SYNDROME, TYPE 6; MKS6
OMIM:612285 JOUBERT SYNDROME 9; JBTS9
OMIM:612286 NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1; NPHLOP1
OMIM:612287 NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2; NPHLOP2
OMIM:612289 PROGEROID SYNDROME, CONGENITAL, PETTY TYPE
OMIM:612290 MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE
OMIM:612291 JOUBERT SYNDROME 8; JBTS8
OMIM:612292 BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME
OMIM:612300 CD59 DEFICIENCY
OMIM:612301 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7
OMIM:612304 THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE; THPH4
OMIM:612310 PREMATURE OVARIAN FAILURE 6; POF6
OMIM:612313 CHROMOSOME 2q32-q33 DELETION SYNDROME
OMIM:612319 SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE; SPG35
OMIM:612335 SPASTIC PARAPLEGIA 38, AUTOSOMAL DOMINANT; SPG38
OMIM:612336 THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT; THPH5
OMIM:612337 CHROMOSOME 1q43-q44 DELETION SYNDROME
OMIM:612347 JERVELL AND LANGE-NIELSEN SYNDROME 2; JLNS2
OMIM:612350 SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE
OMIM:612353 POROKERATOSIS 6, DISSEMINATED SUPERFICIAL ACTINIC TYPE; POROK6
OMIM:612356 HEPARIN COFACTOR II DEFICIENCY
OMIM:612359 COWDEN SYNDROME 2; CWS2
OMIM:612370 HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA; HH5
OMIM:612376 ACUTE PROMYELOCYTIC LEUKEMIA; APL
OMIM:612379 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq; CDG1Q
OMIM:612390 PONTOCEREBELLAR HYPOPLASIA, TYPE 2C; PCH2C
OMIM:612394 BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
OMIM:612406 DYSTONIA 17, TORSION, AUTOSOMAL RECESSIVE; DYT17
OMIM:612416 FACTOR XI DEFICIENCY
OMIM:612437 EPILEPSY, PROGRESSIVE MYOCLONIC 1B; EPM1B
OMIM:612438 LEUKODYSTROPHY, HYPOMYELINATING, 6; HLD6
OMIM:612444 CILIARY DYSKINESIA, PRIMARY, 9; CILD9
OMIM:612446 COMPLEMENT COMPONENT 6 DEFICIENCY; C6D
OMIM:612447 SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION
OMIM:612462 PSEUDOHYPOPARATHYROIDISM, TYPE IC; PHP1C
OMIM:612463 PSEUDOPSEUDOHYPOPARATHYROIDISM; PPHP
OMIM:612474 CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
OMIM:612475 CHROMOSOME 1q21.1 DUPLICATION SYNDROME
OMIM:612513 CHROMOSOME 2p16.1-p15 DELETION SYNDROME
OMIM:612518 CILIARY DYSKINESIA, PRIMARY, 10; CILD10
OMIM:612520 DIABETES MELLITUS, INSULIN-DEPENDENT, 20; IDDM20
OMIM:612526 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3; CGL3
OMIM:612527 DIAMOND-BLACKFAN ANEMIA 4; DBA4
OMIM:612528 DIAMOND-BLACKFAN ANEMIA 5; DBA5
OMIM:612529 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2; AI2A2
OMIM:612530 CHROMOSOME 1q41-q42 DELETION SYNDROME
OMIM:612539 SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT; SPG42
OMIM:612540 MYOPATHY, CONGENITAL, COMPTON-NORTH
OMIM:612541 NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4
OMIM:612551 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO; FSGS4
OMIM:612555 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BROVCA2
OMIM:612561 DIAMOND-BLACKFAN ANEMIA 6; DBA6
OMIM:612562 DIAMOND-BLACKFAN ANEMIA 7; DBA7
OMIM:612563 DIAMOND-BLACKFAN ANEMIA 8; DBA8
OMIM:612567 INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25
OMIM:612572 RETINITIS PIGMENTOSA 46; RP46
OMIM:612577 AMYOTROPHIC LATERAL SCLEROSIS 11; ALS11
OMIM:612580 MENTAL RETARDATION, AUTOSOMAL DOMINANT 3; MRD3
OMIM:612581 MENTAL RETARDATION, AUTOSOMAL DOMINANT 4; MRD4
OMIM:612582 CHROMOSOME 6pter-p24 DELETION SYNDROME
OMIM:612591 COLORECTAL CANCER, SUSCEPTIBILITY TO, 10; CRCS10
OMIM:612621 MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5
OMIM:612626 CHROMOSOME 15q26-qter DELETION SYNDROME
OMIM:612631 ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO
OMIM:612643 DEAFNESS, AUTOSOMAL DOMINANT 3B; DFNA3B
OMIM:612644 DEAFNESS, AUTOSOMAL DOMINANT 2B; DFNA2B
OMIM:612645 DEAFNESS, AUTOSOMAL RECESSIVE 1B; DFNB1B
OMIM:612649 CILIARY DYSKINESIA, PRIMARY, 11; CILD11
OMIM:612650 CILIARY DYSKINESIA, PRIMARY, 12; CILD12
OMIM:612651 ENDOCRINE-CEREBROOSTEODYSPLASIA; ECO
OMIM:612653 SPHEROCYTOSIS, TYPE 4; SPH4
OMIM:612656 EPISODIC ATAXIA, TYPE 6; EA6
OMIM:612657 CONE-ROD DYSTROPHY 12; CORD12
OMIM:612671 URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4; UAQTL4
OMIM:612674 POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT;
OMIM:612690 SPHEROCYTOSIS, TYPE 5; SPH5
OMIM:612692 AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE; AGM6
OMIM:612702 HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA; HH6
OMIM:612703 MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE; MCPH7
OMIM:612712 LEBER CONGENITAL AMAUROSIS 13; LCA13
OMIM:612713 KAHRIZI SYNDROME; KHRZ
OMIM:612714 EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL
OMIM:612716 DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY
OMIM:612717 MYOPIA 15, AUTOSOMAL DOMINANT; MYP15
OMIM:612718 ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY
OMIM:612726 HARDIKAR SYNDROME
OMIM:612731 FACIOCARDIOMELIC SYNDROME
OMIM:612736 GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY
OMIM:612740 PORPHYRIA, ACUTE HEPATIC
OMIM:612775 CONE-ROD DYSTROPHY 9; CORD9
OMIM:612776 HYPOGLOSSIA WITH SITUS INVERSUS
OMIM:612780 SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND
OMIM:612781 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB; IGHD1B
OMIM:612782 IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT
OMIM:612783 IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT
OMIM:612794 ATRIAL SEPTAL DEFECT 5; ASD5
OMIM:612813 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE
OMIM:612838 BRUGADA SYNDROME 5; BRGDA5
OMIM:612840 LEUKOCYTE ADHESION DEFICIENCY, TYPE III; LAD3
OMIM:612843 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT; KFSD
OMIM:612847 BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES
OMIM:612852 OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS;
OMIM:612863 CHROMOSOME 6q24-q25 DELETION SYNDROME
OMIM:612877 CARDIOMYOPATHY, DILATED, 1BB; CMD1BB
OMIM:612900 CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ2
OMIM:612908 KERATOSIS PALMOPLANTARIS STRIATA II; PPKS2
OMIM:612913 OROFACIODIGITAL SYNDROME XI; OFD11
OMIM:612916 ZECHI-CEIDE SYNDROME
OMIM:612917 GIACHETI SYNDROME
OMIM:612918 CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL
OMIM:612921 THREE M SYNDROME 2; 3M2
OMIM:612922 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2; AHUS2
OMIM:612923 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3; AHUS3
OMIM:612924 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4; AHUS4
OMIM:612925 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5; AHUS5
OMIM:612926 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6; AHUS6
OMIM:612932 GLYCOGEN STORAGE DISEASE XIII; GSD13
OMIM:612933 GLYCOGEN STORAGE DISEASE XI; GSD11
OMIM:612934 GLYCOGEN STORAGE DISEASE XIV; GSD14
OMIM:612936 SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50
OMIM:612937 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Io; CDG1O
OMIM:612938 GROWTH RETARDATION, DEVELOPMENTAL DELAY, COARSE FACIES, AND EARLY
OMIM:612940 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB; ARCL2B
OMIM:612943 RETINITIS PIGMENTOSA 42; RP42
OMIM:612946 HADZISELIMOVIC SYNDROME
OMIM:612947 MICROCEPHALY, GROWTH RETARDATION, CATARACT, HEARING LOSS, AND UNUSUAL
OMIM:612948 STARGARDT MACULAR DEGENERATION, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM,
OMIM:612949 HYPOMYELINATION, GLOBAL CEREBRAL
OMIM:612951 LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY
OMIM:612952 AICARDI-GOUTIERES SYNDROME 5; AGS5
OMIM:612953 PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE; PARK14
OMIM:612954 MYOPATHY, MYOFIBRILLAR 6, MFM6
OMIM:612955 LONG QT SYNDROME 12; LQT12
OMIM:612956 VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2; VF2
OMIM:612961 MULTIPLE SYNOSTOSES SYNDROME 3; SYNS3
OMIM:612964 PREMATURE OVARIAN FAILURE 7; POF7
OMIM:612965 46,XY SEX REVERSAL 3; SRXY3
OMIM:612989 OPTIC ATROPHY 7; OPA7
OMIM:612997 SPERMATOGENIC FAILURE 7; SPGF7
OMIM:612998 EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT; EDMD4
OMIM:612999 EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT; EDMD5
OMIM:613000 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL; FNEPPK
OMIM:613001 ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; ECCL
OMIM:613005 SANTOS SYNDROME
OMIM:613011 LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1
OMIM:613013 NEUROBLASTOMA, SUSCEPTIBILITY TO, 2; NBLST2
OMIM:613020 CATARACT, AGE-RELATED CORTICAL, 2; ARCC2
OMIM:613021 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2; BESC2
OMIM:613024 FOLLICULAR LYMPHOMA, SUSCEPTIBILITY TO, 1; FL1
OMIM:613026 CHROMOSOME 19q13.11 DELETION SYNDROME
OMIM:613027 GLYCOGEN STORAGE DISEASE IXc; GSD9C
OMIM:613038 PITUITARY HORMONE DEFICIENCY, COMBINED, 1; CPHD1
OMIM:613060 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10; EIG10
OMIM:613065 LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL
OMIM:613068 NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY
OMIM:613070 LIVER FAILURE, INFANTILE, TRANSIENT; LFIT
OMIM:613071 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3; BESC3
OMIM:613073 METAPHYSEAL ANADYSPLASIA 2; MANDP2
OMIM:613074 DEAFNESS, AUTOSOMAL DOMINANT 50; DFNA50
OMIM:613075 MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS
OMIM:613076 MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT, HEARING
OMIM:613077 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,
OMIM:613078 NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD
OMIM:613089 CAPILLARY MALFORMATION OF THE LOWER LIP, LYMPHATIC MALFORMATION OF
OMIM:613090 BARTTER SYNDROME, TYPE 4B
OMIM:613093 CONE DYSTROPHY 4; COD4
OMIM:613094 MICROPHTHALMIA, ISOLATED 4; MCOP4
OMIM:613096 SPASTIC PARAPLEGIA 36, AUTOSOMAL DOMINANT; SPG36
OMIM:613097 TOOTH AGENESIS, SELECTIVE, 6; STHAG6
OMIM:613105 CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2; CACD2
OMIM:613108 CANDIDIASIS, FAMILIAL, 4; CANDF4
OMIM:613115 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB; HSAN2B
OMIM:613118 ANTITHROMBIN III DEFICIENCY; AT3D
OMIM:613122 CARDIOMYOPATHY, DILATED, 1CC; CMD1CC
OMIM:613124 HYDROPS FETALIS, NONIMMUNE, WITH GRACILE BONES AND DYSMORPHIC FEATURES
OMIM:613135 PARKINSONISM-DYSTONIA, INFANTILE; PKDYS
OMIM:613144 CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 3; CACD3
OMIM:613150 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE
OMIM:613151 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),
OMIM:613152 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION),
OMIM:613153 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE
OMIM:613154 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE
OMIM:613155 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),
OMIM:613156 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),
OMIM:613157 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3; MDDGC3
OMIM:613158 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2; MDDGC2
OMIM:613159 NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1
OMIM:613161 BETA-UREIDOPROPIONASE DEFICIENCY
OMIM:613162 SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE; SPG45
OMIM:613163 GABA-TRANSAMINASE DEFICIENCY
OMIM:613174 CHROMOSOME 5p13 DUPLICATION SYNDROME
OMIM:613177 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC; ARCL1C
OMIM:613179 PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
OMIM:613180 POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA
OMIM:613195 WEILL-MARCHESANI-LIKE SYNDROME
OMIM:613205 MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED
OMIM:613211 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3; AI2A3
OMIM:613215 CHROMOSOME 17p13.3 DUPLICATION SYNDROME
OMIM:613216 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C
OMIM:613217 DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL; DIAR5
OMIM:613224 NOONAN SYNDROME 6; NS6
OMIM:613225 FACTOR XIII, A SUBUNIT, DEFICIENCY OF
OMIM:613227 CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME
OMIM:613229 TRICHOTILLOMANIA; TTM
OMIM:613235 FACTOR XIII, B SUBUNIT, DEFICIENCY OF
OMIM:613237 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5
OMIM:613241 PSEUDOPILI ANNULATI
OMIM:613243 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13; CMH13
OMIM:613244 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8; HNPCC8
OMIM:613251 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14; CMH14
OMIM:613252 CARDIOMYOPATHY, DILATED, 1EE; CMD1EE
OMIM:613254 TUBEROUS SCLEROSIS 2; TSC2
OMIM:613255 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15; CMH15
OMIM:613265 WAARDENBURG SYNDROME, TYPE 4B; WS4B
OMIM:613266 WAARDENBURG SYNDROME, TYPE 4C; WS4C
OMIM:613268 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD4
OMIM:613270 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6; FECD6
OMIM:613280 HYPERMANGANESEMIA WITH DYSTONIA, POLYCYTHEMIA, AND CIRRHOSIS; HMDPC
OMIM:613285 DEAFNESS, AUTOSOMAL RECESSIVE 25; DFNB25
OMIM:613286 CARDIOMYOPATHY, DILATED, 1FF; CMD1FF
OMIM:613287 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N; CMT2N
OMIM:613291 BILE ACID MALABSORPTION, PRIMARY; PBAM
OMIM:613307 DEAFNESS, AUTOSOMAL RECESSIVE 79; DFNB79
OMIM:613308 DIAMOND-BLACKFAN ANEMIA 9; DBA9
OMIM:613309 DIAMOND-BLACKFAN ANEMIA 10; DBA10
OMIM:613310 EXUDATIVE VITREORETINOPATHY 5; EVR5
OMIM:613312 HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2; ARHR2
OMIM:613313 HEMOCHROMATOSIS, TYPE 2B; HFE2B
OMIM:613319 MIYOSHI MUSCULAR DYSTROPHY 3; MMD3
OMIM:613320 CHONDRODYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE
OMIM:613327 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4
OMIM:613328 ROIFMAN-CHITAYAT SYNDROME
OMIM:613329 PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY
OMIM:613339 EPILEPSY, HOT WATER, 1; HWE1
OMIM:613341 LEBER CONGENITAL AMAUROSIS 14; LCA14
OMIM:613342 MSELENI JOINT DISEASE
OMIM:613345 HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2; HOKPP2
OMIM:613353 MONONEUROPATHY OF THE MEDIAN NERVE, MILD; MNMN
OMIM:613355 CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME
OMIM:613364 SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT; SPG41
OMIM:613370 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10
OMIM:613371 SPINOCEREBELLAR ATAXIA 30; SCA30
OMIM:613375 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11; MODY11
OMIM:613376 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC; HMN2C
OMIM:613382 BRACHYDACTYLY, TYPE E2; BDE2
OMIM:613385 AUTOIMMUNE DISEASE, SYNDROMIC MULTISYSTEM
OMIM:613388 FANCONI RENOTUBULAR SYNDROME 2; FRTS2
OMIM:613390 FANCONI ANEMIA, COMPLEMENTATION GROUP O; FANCO
OMIM:613391 DEAFNESS, AUTOSOMAL RECESSIVE 84A; DFNB84A
OMIM:613398 WARSAW BREAKAGE SYNDROME; WABS
OMIM:613402 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10; EIEE10
OMIM:613404 ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2; ARCS2
OMIM:613406 CHROMOSOME 15q24 DELETION SYNDROME
OMIM:613411 OGUCHI DISEASE 2
OMIM:613412 ESOPHAGITIS, EOSINOPHILIC, 2; EOE2
OMIM:613418 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15; BMND15
OMIM:613424 CARDIOMYOPATHY, DILATED, 1R; CMD1R
OMIM:613426 CARDIOMYOPATHY, DILATED, 1S; CMD1S
OMIM:613443 MENTAL RETARDATION, AUTOSOMAL DOMINANT 20; MRD20
OMIM:613451 FRONTONASAL DYSPLASIA 2; FND2
OMIM:613454 RETT SYNDROME, CONGENITAL VARIANT
OMIM:613457 CHROMOSOME 14q11-q22 DELETION SYNDROME
OMIM:613458 CHROMOSOME 16p13.3 DUPLICATION SYNDROME
OMIM:613470 HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE
OMIM:613471 REYNOLDS SYNDROME
OMIM:613477 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5; EIEE5
OMIM:613480 LYMPHEDEMA, HEREDITARY, IC
OMIM:613488 MYXOID LIPOSARCOMA
OMIM:613489 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj; CDG2J
OMIM:613490 ALPHA-1-ANTITRYPSIN DEFICIENCY
OMIM:613493 IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3
OMIM:613494 IMMUNODEFICIENCY, COMMON VARIABLE, 4; CVID4
OMIM:613495 IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5
OMIM:613496 IMMUNODEFICIENCY, COMMON VARIABLE, 6; CVID6
OMIM:613500 AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE; AGM2
OMIM:613501 AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE; AGM3
OMIM:613502 AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE; AGM4
OMIM:613507 GLYCOGEN STORAGE DISEASE XV; GSD15
OMIM:613509 CHROMOSOME 4q21 DELETION SYNDROME
OMIM:613517 MICROPHTHALMIA, ISOLATED 6; MCOP6
OMIM:613530 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1H; LGMD1H
OMIM:613533 CHROMOSOME 17q21.31 DUPLICATION SYNDROME
OMIM:613544 CHROMOSOME 6q11-q14 DELETION SYNDROME
OMIM:613546 AROMATASE DEFICIENCY
OMIM:613550 NEPHRONOPHTHISIS 11; NPHP11
OMIM:613554 VON WILLEBRAND DISEASE, TYPE 2; VWD2
OMIM:613558 DEAFNESS, AUTOSOMAL DOMINANT 51; DFNA51
OMIM:613559 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7; COXPD7
OMIM:613561 MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2
OMIM:613573 ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1; EDSS1
OMIM:613575 RETINITIS PIGMENTOSA 55; RP55
OMIM:613576 ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2; EDSS2
OMIM:613581 RETINITIS PIGMENTOSA 56; RP56
OMIM:613582 RETINITIS PIGMENTOSA 57; RP57
OMIM:613603 CHROMOSOME 4q32.1-q32.2 TRIPLICATION SYNDROME
OMIM:613604 CHROMOSOME 16p12.2-p11.2 DELETION SYNDROME, 7.1- TO 8.7-MB
OMIM:613606 FORSYTHE-WAKELING SYNDROME; FWS
OMIM:613608 EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3; FAME3
OMIM:613610 CRANIOECTODERMAL DYSPLASIA 2; CED2
OMIM:613611 CHOANAL ATRESIA AND LYMPHEDEMA
OMIM:613618 CHROMOSOME 17q23.1-q23.2 DUPLICATION SYNDROME
OMIM:613623 AGENESIS OF THE CORPUS CALLOSUM AND CONGENITAL LYMPHEDEMA
OMIM:613625 FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2; F5F8D2
OMIM:613627 BRACHYDACTYLY, TYPE A1, WITH SHORT STATURE, SCOLIOSIS, MICROCEPHALY,
OMIM:613628 ODONTOID HYPOPLASIA
OMIM:613640 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC; HSAN1C
OMIM:613641 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B; CMTRIB
OMIM:613647 SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE; SPG48
OMIM:613652 C1q DEFICIENCY; C1QD
OMIM:613658 RAJAB SYNDROME
OMIM:613659 GASTRIC CANCER
OMIM:613660 CONE-ROD DYSTROPHY 15; CORD15
OMIM:613661 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip; CDG1P
OMIM:613662 MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B
OMIM:613668 MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY
OMIM:613670 MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES
OMIM:613671 MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS;
OMIM:613672 SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE; SPAX4
OMIM:613673 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV; CDAN4
OMIM:613674 VESICOURETERAL REFLUX 3; VUR3
OMIM:613675 CHROMOSOME 17q11.2 DELETION SYNDROME, 1.4-MB
OMIM:613676 SECKEL SYNDROME 4; SCKL4
OMIM:613678 BRACHYOLMIA TYPE 2
OMIM:613679 PROTHROMBIN DEFICIENCY, CONGENITAL
OMIM:613680 MICROCEPHALY, MENTAL RETARDATION, AND DISTINCTIVE FACIES, WITH CARDIAC
OMIM:613681 CHROMOSOME 2q31.1 DUPLICATION SYNDROME
OMIM:613684 RUBINSTEIN-TAYBI SYNDROME 2; RSTS2
OMIM:613686 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4
OMIM:613688 LONG QT SYNDROME 2; LQT2
OMIM:613689 MAMMARY-DIGITAL-NAIL SYNDROME; MDNS
OMIM:613690 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7; CMH7
OMIM:613693 LONG QT SYNDROME 6; LQT6
OMIM:613694 CARDIOMYOPATHY, DILATED, 1U; CMD1U
OMIM:613695 LONG QT SYNDROME 5; LQT5
OMIM:613697 CARDIOMYOPATHY, DILATED, 1V; CMD1V
OMIM:613703 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6
OMIM:613708 NEUROPATHY, HEREDITARY SENSORY, TYPE ID; HSN1D
OMIM:613710 THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION
OMIM:613717 TREACHER COLLINS SYNDROME 2; TCS2
OMIM:613720 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7; EIEE7
OMIM:613721 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE11
OMIM:613722 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12; EIEE12
OMIM:613723 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q; LGMD2Q
OMIM:613728 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10; SCAR10
OMIM:613729 CHROMOSOME 7q11.23 DELETION SYNDROME, DISTAL, 1.2-MB
OMIM:613730 HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION,
OMIM:613731 RETINITIS PIGMENTOSA 4; RP4
OMIM:613735 CHROMOSOME 1p32-p31 DELETION SYNDROME
OMIM:613744 SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE; SPG51
OMIM:613752 HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY
OMIM:613759 INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND
OMIM:613762 46,XY SEX REVERSAL 6; SRXY6
OMIM:613767 RETINITIS PIGMENTOSA 45; RP45
OMIM:613776 CHROMOSOME 17p13.1 DELETION SYNDROME
OMIM:613779 COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE; C3D
OMIM:613780 AORTIC ANEURYSM, FAMILIAL THORACIC 7; AAT7
OMIM:613789 COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II; C8D2
OMIM:613790 COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I; C8D1
OMIM:613792 CHROMOSOME 3pter-p25 DELETION SYNDROME
OMIM:613795 LOEYS-DIETZ SYNDROME, TYPE 3; LDS3
OMIM:613800 MEIER-GORLIN SYNDROME 2; MGORS2
OMIM:613801 RETINITIS PIGMENTOSA 40; RP40
OMIM:613803 MEIER-GORLIN SYNDROME 3; MGORS3
OMIM:613804 MEIER-GORLIN SYNDROME 4; MGORS4
OMIM:613805 MEIER-GORLIN SYNDROME 5; MGORS5
OMIM:613811 PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D
OMIM:613812 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3; CBAS3
OMIM:613818 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9; MDDGC9
OMIM:613832 EPILEPSY, PROGRESSIVE MYOCLONIC 5; EPM5
OMIM:613834 MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
OMIM:613835 LEBER CONGENITAL AMAUROSIS 8; LCA8
OMIM:613838 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16; CMH16
OMIM:613839 MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY
OMIM:613843 LEBER CONGENITAL AMAUROSIS 15; LCA15
OMIM:613845 HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS
OMIM:613848 OSTEOGENESIS IMPERFECTA, TYPE X
OMIM:613849 OSTEOGENESIS IMPERFECTA, TYPE XII; OI12
OMIM:613860 IMMUNODEFICIENCY DUE TO FICOLIN 3 DEFICIENCY
OMIM:613861 RETINITIS PIGMENTOSA 59; RP59
OMIM:613862 RETINITIS PIGMENTOSA 38; RP38
OMIM:613863 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7; GEFSP7
OMIM:613865 DEAFNESS, AUTOSOMAL RECESSIVE 61; DFNB61
OMIM:613869 MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED
OMIM:613873 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17; CMH17
OMIM:613874 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18; CMH18
OMIM:613875 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 19; CMH19
OMIM:613876 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20; CMH20
OMIM:613877 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4; FPLD4
OMIM:613881 CARDIOMYOPATHY, DILATED, 1HH; CMD1HH
OMIM:613884 CHROMOSOME 13q14 DELETION SYNDROME
OMIM:613908 SPINOCEREBELLAR ATAXIA 35; SCA35
OMIM:613912 COMPLEMENT FACTOR D DEFICIENCY; CFDD
OMIM:613913 LIPODYSTROPHY, PARTIAL, ACQUIRED, WITH LOW COMPLEMENT COMPONENT C3,
OMIM:613925 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A; MLC2A
OMIM:613926 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING,
OMIM:613930 ALOPECIA-MENTAL RETARDATION SYNDROME 3; APMR3
OMIM:613933 ACETYL-CoA CARBOXYLASE DEFICIENCY; ACACAD
OMIM:613943 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8; ARCI8
OMIM:613951 FANCONI ANEMIA, COMPLEMENTATION GROUP P; FANCP
OMIM:613957 SPERMATOGENIC FAILURE 8; SPGF8
OMIM:613958 SPERMATOGENIC FAILURE 9; SPGF9
OMIM:613960 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,
OMIM:613969 MYOPIA 19, AUTOSOMAL DOMINANT; MYP19
OMIM:613971 EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS; EPND
OMIM:613977 CYANOSIS, TRANSIENT NEONATAL; TNCY
OMIM:613978 HEMOGLOBIN H DISEASE; HBH
OMIM:613983 RETINITIS PIGMENTOSA 60; RP60
OMIM:613985 BETA-THALASSEMIA
OMIM:613986 PITUITARY HORMONE DEFICIENCY, COMBINED, 6; CPHD6
OMIM:613987 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 2; DKCB2
OMIM:613988 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3; DKCB3
OMIM:613989 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2; DKCA2
OMIM:613990 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3; DKCA3
OMIM:614008 NESTOR-GUILLERMO PROGERIA SYNDROME; NGPS
OMIM:614009 BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13
OMIM:614017 CILIARY DYSKINESIA, PRIMARY, 16; CILD16
OMIM:614018 EPILEPSY, PROGRESSIVE MYOCLONIC 6; EPM6
OMIM:614019 LISSENCEPHALY 4; LIS4
OMIM:614020 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14; MRT14
OMIM:614021 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3; CPVT3
OMIM:614022 ATRIAL FIBRILLATION, FAMILIAL, 10; ATFB10
OMIM:614025 HEPATIC LIPASE DEFICIENCY
OMIM:614028 HYPERALPHALIPOPROTEINEMIA 2; HALP2
OMIM:614033 HYDROXYACYL GLUTATHIONE HYDROLASE DEFICIENCY
OMIM:614038 LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA
OMIM:614039 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS; CDCBM
OMIM:614044 TRYPSINOGEN DEFICIENCY
OMIM:614049 ATRIAL FIBRILLATION, FAMILIAL, 11; ATFB11
OMIM:614052 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2;
OMIM:614055 ACETYL-CoA ACETYLTRANSFERASE-2 DEFICIENCY; ACAT2D
OMIM:614065 MYOPATHY, DISTAL, 4; MPD4
OMIM:614066 SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47
OMIM:614067 SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52
OMIM:614069 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME
OMIM:614078 CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE
OMIM:614080 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1
OMIM:614089 ATRIAL SEPTAL DEFECT 3; ASD3
OMIM:614091 SHORT RIB-POLYDACTYLY SYNDROME, TYPE V; SRPS5
OMIM:614096 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8; COXPD8
OMIM:614098 KEPPEN-LUBINSKY SYNDROME; KPLBS
OMIM:614099 CRANIOECTODERMAL DYSPLASIA 3; CED3
OMIM:614100 CUTIS LAXA, NEONATAL, WITH MARFANOID PHENOTYPE
OMIM:614102 IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY; IGKCD
OMIM:614103 LIPEDEMA
OMIM:614114 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2; MVA2
OMIM:614115 CORTICAL MALFORMATIONS, OCCIPITAL; OCCM
OMIM:614116 NEUROPATHY, HEREDITARY SENSORY, TYPE IE; HSN1E
OMIM:614120 HYDROLETHALUS SYNDROME 2; HLS2
OMIM:614131 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6; FSGS6
OMIM:614132 CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION
OMIM:614135 EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6
OMIM:614152 DEAFNESS, AUTOSOMAL DOMINANT 64; DFNA64
OMIM:614153 SPINOCEREBELLAR ATAXIA 36; SCA36
OMIM:614156 HYPERBILIVERDINEMIA; HBLVD
OMIM:614157 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10; NDNC10
OMIM:614158 BLEEDING DISORDER, PLATELET-TYPE, 14; BDPLT14
OMIM:614164 GLUTATHIONE PEROXIDASE DEFICIENCY; GPXD
OMIM:614170 BRITTLE CORNEA SYNDROME 2; BCS2
OMIM:614171 HERMANSKY-PUDLAK SYNDROME 9; HPS9
OMIM:614173 JOUBERT SYNDROME 13; JBTS13
OMIM:614175 MECKEL SYNDROME, TYPE 10; MKS10
OMIM:614180 RETINITIS PIGMENTOSA 61; RP61
OMIM:614181 RETINITIS PIGMENTOSA 62; RP62
OMIM:614185 GELEOPHYSIC DYSPLASIA 2; GPHYSD2
OMIM:614186 LEBER CONGENITAL AMAUROSIS 16; LCA16
OMIM:614187 HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS; HPPD
OMIM:614188 CRANIOSYNOSTOSIS AND DENTAL ANOMALIES; CRSDA
OMIM:614196 NEPHROTIC SYNDROME, TYPE 6; NPHS6
OMIM:614199 NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES;
OMIM:614200 BLEEDING DISORDER, PLATELET-TYPE, 9; BDPLT9
OMIM:614201 BLEEDING DISORDER, PLATELET-TYPE, 11; BDPLT11
OMIM:614202 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15
OMIM:614203 PARKINSON DISEASE 17; PARK17
OMIM:614204 PUSTULAR PSORIASIS, GENERALIZED; PSORP
OMIM:614205 THREE M SYNDROME 3; 3M3
OMIM:614211 DEAFNESS, AUTOSOMAL DOMINANT 33; DFNA33
OMIM:614212 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4; IIAE4
OMIM:614213 NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C
OMIM:614219 ADAMS-OLIVER SYNDROME 2; AOS2
OMIM:614224 RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS;
OMIM:614226 HOLOPROSENCEPHALY 11; HPE11
OMIM:614227 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3; HNFJ3
OMIM:614228 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O; CMT2O
OMIM:614229 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11; SCAR11
OMIM:614230 CHROMOSOME 8q21.11 DELETION SYNDROME
OMIM:614231 MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME; MEDS
OMIM:614250 NARCOLEPSY 7; NRCLP7
OMIM:614251 PARKINSON DISEASE 18; PARK18
OMIM:614253 AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME; AIGFS
OMIM:614261 MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME; MICCAP
OMIM:614262 ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY; APUG
OMIM:614279 46,XY SEX REVERSAL 8; SRXY8
OMIM:614280 EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 9; EJM9
OMIM:614284 STICKLER SYNDROME, TYPE V; STL5
OMIM:614290 TETRASOMY 18p
OMIM:614292 MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION; MCVD
OMIM:614296 WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT; WFSL
OMIM:614298 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4; NBIA4
OMIM:614299 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2; MMDS2
OMIM:614300 HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
OMIM:614302 EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT; EDMD7
OMIM:614303 EDICT SYNDROME; EDICT
OMIM:614305 SCLEROSTEOSIS 2; SOST2
OMIM:614306 COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA; CIAT
OMIM:614307 ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY; AMACRD
OMIM:614321 MYOPATHY, DISTAL, TATEYAMA TYPE; MPDT
OMIM:614322 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12; SCAR12
OMIM:614323 NEVOID HYPERMELANOSIS, LINEAR AND WHORLED; LWNH
OMIM:614324 OVARIAN DYSGENESIS 3; ODG3
OMIM:614325 PITT-HOPKINS-LIKE SYNDROME 2; PTHSL2
OMIM:614326 FEINGOLD SYNDROME 2; FGLDS2
OMIM:614327 TUMOR PREDISPOSITION SYNDROME; TPDS
OMIM:614328 INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL; NISBD
OMIM:614335 ARTHROGRYPOSIS, DISTAL, TYPE 1B; DA1B
OMIM:614338 PANCREATIC LIPASE DEFICIENCY; PNLIPD
OMIM:614369 PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS; PNMHH
OMIM:614370 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5; SMDP5
OMIM:614371 DENGUE VIRUS, SUSCEPTIBILITY TO
OMIM:614373 AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE; ALS16
OMIM:614376 ASPHYXIATING THORACIC DYSTROPHY 5; ATD5
OMIM:614377 NEPHRONOPHTHISIS 13; NPHP13
OMIM:614378 CRANIOECTODERMAL DYSPLASIA 4; CED4
OMIM:614380 COMPLEMENT COMPONENT 4A DEFICIENCY; C4AD
OMIM:614388 ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL
OMIM:614399 MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET;
OMIM:614402 MICROPHTHALMIA, SYNDROMIC 11; MCOPS11
OMIM:614407 MICROCEPHALY, CEREBELLAR HYPOPLASIA, AND CARDIAC CONDUCTION DEFECT
OMIM:614408 MYOPATHY, CENTRONUCLEAR, 3; CNM3
OMIM:614409 SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE; SPG46
OMIM:614415 CHILBLAIN LUPUS 2; CHBL2
OMIM:614416 RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES;
OMIM:614418 FEBRILE SEIZURES, FAMILIAL, 11; FEB11
OMIM:614420 SYSTEMIC LUPUS ERYTHEMATOSUS 16; SLEB16
OMIM:614421 WEAVER SYNDROME 2; WVS2
OMIM:614424 JOUBERT SYNDROME 14; JBTS14
OMIM:614429 VENTRICULAR SEPTAL DEFECT 1; VSD1
OMIM:614432 VENTRICULAR SEPTAL DEFECT 3; VSD3
OMIM:614435 HYPOPLASTIC LEFT HEART SYNDROME 2; HLHS2
OMIM:614436 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P; CMT2P
OMIM:614437 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B
OMIM:614441 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2; PHOAR2
OMIM:614450 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6
OMIM:614455 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E; CMTDIE
OMIM:614457 ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION; ISQMR
OMIM:614458 THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY
OMIM:614462 PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY; PDHLD
OMIM:614464 JOUBERT SYNDROME 15; JBTS15
OMIM:614465 JOUBERT SYNDROME 16; JBTS16
OMIM:614468 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3
OMIM:614473 ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2; GACI2
OMIM:614475 ATRIAL SEPTAL DEFECT 9; ASD9
OMIM:614480 HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE; HTGTI
OMIM:614482 CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION; CCHLND
OMIM:614483 PORENCEPHALY 2; POREN2
OMIM:614485 TRIGONOCEPHALY 2; TRIGNO2
OMIM:614487 SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE; SPAX5
OMIM:614491 PSEUDOHYPOALDOSTERONISM, TYPE IIB; PHA2B
OMIM:614492 PSEUDOHYPOALDOSTERONISM, TYPE IIC; PHA2C
OMIM:614494 RETINITIS PIGMENTOSA 63; RP63
OMIM:614495 PSEUDOHYPOALDOSTERONISM, TYPE IID; PHA2D
OMIM:614496 PSEUDOHYPOALDOSTERONISM, TYPE IIE; PHA2E
OMIM:614497 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7; MCOPCB7
OMIM:614498 RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL; RMFSL
OMIM:614500 CONE-ROD DYSTROPHY 16; CORD16
OMIM:614501 PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM;
OMIM:614504 USHER SYNDROME, TYPE IIIB; USH3B
OMIM:614507 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir; CDG1R
OMIM:614508 MIRROR MOVEMENTS 2; MRMV2
OMIM:614514 THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE; THPH6
OMIM:614520 ENCEPHALOMYOPATHY, MITOCHONDRIAL, DUE TO VOLTAGE-DEPENDENT ANION CHANNEL
OMIM:614524 FIBROCHONDROGENESIS 2; FBCG2
OMIM:614526 CHROMOSOME 17q12 DUPLICATION SYNDROME
OMIM:614527 CHROMOSOME 17q12 DELETION SYNDROME
OMIM:614540 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 3; IBGC3
OMIM:614541 CHROMOSOME 16q22 DELETION SYNDROME
OMIM:614557 EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY,
OMIM:614558 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13; EIEE13
OMIM:614559 INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD
OMIM:614561 LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC
OMIM:614564 CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL; FCTCS
OMIM:614565 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E; CSNB1E
OMIM:614569 MULTIPLE ENCHONDROMATOSIS, MAFFUCCI TYPE
OMIM:614575 CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME;
OMIM:614576 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L
OMIM:614582 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9
OMIM:614588 DYSTONIA 21; DYT21
OMIM:614592 BENT BONE DYSPLASIA SYNDROME; BBDS
OMIM:614594 PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC
OMIM:614602 TRICHOHEPATOENTERIC SYNDROME 2; THES2
OMIM:614613 ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS2
OMIM:614615 JOUBERT SYNDROME 17; JBTS17
OMIM:614616 DIARRHEA 6; DIAR6
OMIM:614618 HYPEREKPLEXIA 3; HKPX3
OMIM:614621 UV-SENSITIVE SYNDROME 2; UVSS2
OMIM:614622 KERATOCONUS 5; KTCN5
OMIM:614623 KERATOCONUS 6; KTCN6
OMIM:614628 KERATOCONUS 8; KTCN8
OMIM:614629 KERATOCONUS 7; KTCN7
OMIM:614640 UV-SENSITIVE SYNDROME 3; UVSS3
OMIM:614643 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE
OMIM:614650 COENZYME Q10 DEFICIENCY, PRIMARY, 6; COQ10D6
OMIM:614651 COENZYME Q10 DEFICIENCY, PRIMARY, 2; COQ10D2
OMIM:614652 COENZYME Q10 DEFICIENCY, PRIMARY, 3; COQ10D3
OMIM:614653 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI; HSAN6
OMIM:614654 COENZYME Q10 DEFICIENCY, PRIMARY, 5; COQ10D5
OMIM:614662 CORTISONE REDUCTASE DEFICIENCY 2; CORTRD2
OMIM:614669 AURICULOCONDYLAR SYNDROME 2; ARCND2
OMIM:614671 CHROMOSOME 16p11.2 DUPLICATION SYNDROME
OMIM:614672 CARDIOMYOPATHY, DILATED, 2B; CMD2B
OMIM:614673 MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE; MCPH8
OMIM:614675 BONE MARROW FAILURE, FAMILIAL; BMFF
OMIM:614676 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 21; CMH21
OMIM:614678 PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B
OMIM:614679 CILIARY DYSKINESIA, PRIMARY, 17; CILD17
OMIM:614684 HYPERTELORISM AND OTHER FACIAL DYSMORPHISM, BRACHYDACTYLY, GENITAL
OMIM:614688 PONTINE TEGMENTAL CAP DYSPLASIA; PTCD
OMIM:614691 CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 5; CATC5
OMIM:614696 AMYOTROPHIC LATERAL SCLEROSIS 17; ALS17
OMIM:614699 IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7
OMIM:614700 IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8
OMIM:614701 CORNELIA DE LANGE SYNDROME 4; CDLS4
OMIM:614702 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10; COXPD10
OMIM:614706 CEROID LIPOFUSCINOSIS, NEURONAL, 11; CLN11
OMIM:614707 BROWN-VIALETTO-VAN LAERE SYNDROME 2; BVVLS2
OMIM:614714 POROKERATOSIS 7, DISSEMINATED SUPERFICIAL ACTINIC TYPE; POROK7
OMIM:614723 ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; APRTD
OMIM:614727 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk; CDG2K
OMIM:614732 INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA
OMIM:614736 GLUCOCORTICOID DEFICIENCY 4; GCCD4
OMIM:614739 3-@METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE
OMIM:614741 MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY; MPYCD
OMIM:614742 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1;
OMIM:614743 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2;
OMIM:614744 FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3
OMIM:614748 INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA,
OMIM:614749 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2; HPMRS2
OMIM:614750 MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2; CMSTA2
OMIM:614751 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB; HMN5B
OMIM:614756 CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION; CANPMR
OMIM:614779 HETEROTAXY, VISCERAL, 6, AUTOSOMAL; HTX6
OMIM:614800 SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY; SOPH
OMIM:614809 CFHR5 DEFICIENCY
OMIM:614813 SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS;
OMIM:614814 ADAMS-OLIVER SYNDROME 3; AOS3
OMIM:614815 JOUBERT SYNDROME 18; JBTS18
OMIM:614816 LOEYS-DIETZ SYNDROME, TYPE 4; LDS4
OMIM:614817 INTERSTITIAL NEPHRITIS, KARYOMEGALIC; KMIN
OMIM:614819 WEILL-MARCHESANI SYNDROME 3; WMS3
OMIM:614820 ALTERNATING HEMIPLEGIA OF CHILDHOOD 2; AHC2
OMIM:614822 SPERMATOGENIC FAILURE 10; SPGF10
OMIM:614823 AORTIC VALVE DISEASE 2; AOVD2
OMIM:614830 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE
OMIM:614831 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13
OMIM:614833 POLYMICROGYRIA WITH SEIZURES; PMGYS
OMIM:614840 HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA; HH11
OMIM:614841 HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA; HH12
OMIM:614844 NEPHRONOPHTHISIS 14; NPHP14
OMIM:614845 NEPHRONOPHTHISIS 15; NPHP15
OMIM:614847 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12; EIG12
OMIM:614851 SECKEL SYNDROME 7; SCKL7
OMIM:614852 MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE; MCPH9
OMIM:614856 OSTEOGENESIS IMPERFECTA, TYPE XIII; OI13
OMIM:614857 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE; MAHCJ
OMIM:614858 HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA; HH14
OMIM:614859 PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER); PBD3A
OMIM:614860 DYSTONIA 23; DYT23
OMIM:614862 PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER); PBD4A
OMIM:614863 PEROXISOME BIOGENESIS DISORDER 4B; PBD4B
OMIM:614866 PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER); PBD5A
OMIM:614867 PEROXISOME BIOGENESIS DISORDER 5B; PBD5B
OMIM:614868 T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH
OMIM:614869 USHER SYNDROME, TYPE IJ; USH1J
OMIM:614870 PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER); PBD6A
OMIM:614871 PEROXISOME BIOGENESIS DISORDER 6B; PBD6B
OMIM:614872 PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER); PBD7A
OMIM:614873 PEROXISOME BIOGENESIS DISORDER 7B; PBD7B
OMIM:614874 CILIARY DYSKINESIA, PRIMARY, 18; CILD18
OMIM:614876 PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8A
OMIM:614877 PEROXISOME BIOGENESIS DISORDER 8B; PBD8B
OMIM:614878 AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED;
OMIM:614879 PEROXISOME BIOGENESIS DISORDER 9B; PBD9B
OMIM:614880 HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA; HH15
OMIM:614881 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5; DSMA5
OMIM:614882 PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A
OMIM:614883 PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11A
OMIM:614885 PEROXISOME BIOGENESIS DISORDER 11B; PBD11B
OMIM:614886 PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER); PBD12A
OMIM:614887 PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER); PBD13A
OMIM:614895 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F; CMT4F
OMIM:614896 SINOATRIAL NODE DYSFUNCTION AND DEAFNESS; SANDD
OMIM:614897 HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA; HH16
OMIM:614898 SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53
OMIM:614900 DIAMOND-BLACKFAN ANEMIA 11; DBA11
OMIM:614915 LETHAL CONGENITAL CONTRACTURE SYNDROME 4; LCCS4
OMIM:614916 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4; CPVT4
OMIM:614920 PEROXISOME BIOGENESIS DISORDER 14B; PEX14B
OMIM:614921 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It; CDG1T
OMIM:614922 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11; COXPD11
OMIM:614923 BRANCHED-CHAIN KETOACID DEHYDROGENASE KINASE DEFICIENCY; BCKDKD
OMIM:614924 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; COXPD12
OMIM:614926 PERRAULT SYNDROME 2; PRLTS2
OMIM:614927 ECTODERMAL DYSPLASIA 5, HAIR/NAIL TYPE; ECTD5
OMIM:614928 ECTODERMAL DYSPLASIA 6, HAIR/NAIL TYPE; ECTD6
OMIM:614929 ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE; ECTD7
OMIM:614931 ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE; ECTD9
OMIM:614932 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13
OMIM:614935 CILIARY DYSKINESIA, PRIMARY, 19; CILD19
OMIM:614936 KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE IB; PPKP1B
OMIM:614937 MYOCLONUS, FAMILIAL CORTICAL; FCM
OMIM:614940 ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL
OMIM:614941 ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL
OMIM:614944 DEAFNESS, AUTOSOMAL RECESSIVE 84B; DFNB84B
OMIM:614946 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14; COXPD14
OMIM:614947 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15; COXPD15
OMIM:614959 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14; EIEE14
OMIM:614961 PONTOCEREBELLAR HYPOPLASIA, TYPE 8; PCH8
OMIM:614962 LEPTIN DEFICIENCY; LEPD
OMIM:614963 LEPTIN RECEPTOR DEFICIENCY
OMIM:614969 PONTOCEREBELLAR HYPOPLASIA, TYPE 7; PCH7
OMIM:614970 JOUBERT SYNDROME 20; JBTS20
OMIM:614972 CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3; ICP3
OMIM:614980 CONGENITAL HEART DISEASE, MULTIPLE TYPES, 2; CHTD2
OMIM:614990 USHER SYNDROME, TYPE IK; USH1K
OMIM:615005 EPILEPSY, NOCTURNAL FRONTAL LOBE, 5; ENFL5
OMIM:615006 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15; EIEE15
OMIM:615007 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4; IBGC4
OMIM:615008 NEPHROTIC SYNDROME, TYPE 7; NPHS7
OMIM:615024 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10; ARCI10
OMIM:615031 SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE; SPG49
OMIM:615041 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE
OMIM:615042 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu; CDG1U
OMIM:615043 SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE; SPG43
OMIM:615058 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F; CSNB1F
OMIM:615059 HYPOTRICHOSIS 11; HYPT11
OMIM:615065 ARTHROGRYPOSIS, DISTAL, TYPE 5D; DA5D
OMIM:615067 CILIARY DYSKINESIA, PRIMARY, 20; CILD20
OMIM:615081 SPERMATOGENIC FAILURE 11; SPGF11
OMIM:615083 COLORECTAL CANCER, SUSCEPTIBILITY TO, 12; CRCS12
OMIM:615084 MITOCHONDRIAL DNA DEPLETION SYNDROME 11; MTDPS11
OMIM:615085 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8
OMIM:615095 MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE; MCPH10
OMIM:615102 TYSHCHENKO SYNDROME
OMIM:615122 LYMPHOPROLIFERATIVE SYNDROME 2; LPFS2
OMIM:615127 EPILEPSY, FAMILIAL ADULT MYOCLONIC, 4; FAME4
OMIM:615139 FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE; FILS
OMIM:615155 STEEL SYNDROME; STLS
OMIM:615156 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,
OMIM:615170 WAHAB SYNDROME
ORPHANET:10 48,XXYY SYNDROME
ORPHANET:100 ATAXIA-TELANGIECTASIA
ORPHANET:100024 MU HEAVY-CHAIN DISEASE
ORPHANET:100025 ALPHA HEAVY-CHAIN DISEASE
ORPHANET:100026 GAMMA HEAVY-CHAIN DISEASE
ORPHANET:1006 ALOPECIA ANTIBODY DEFICIENCY
ORPHANET:1011 ALOPECIA - HYPOGONADISM - EXTRAPYRAMIDAL DISORDER
ORPHANET:101330 PORPHYRIA CUTANEA TARDA
ORPHANET:1027 AUTOSOMAL RECESSIVE AMELIA
ORPHANET:1034 AMNIOTIC BANDS
ORPHANET:1040 METAPHYSEAL ANADYSPLASIA
ORPHANET:1052 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME
ORPHANET:1053 VEIN OF GALEN ANEURYSM
ORPHANET:1055 FETAL LEFT VENTRICULAR ANEURYSM
ORPHANET:1057 INTRACRANIAL ANEURYSMS - MULTIPLE CONGENITAL ANOMALIES
ORPHANET:1067 ANIRIDIA - PTOSIS - INTELLECTUAL DEFICIT - FAMILIAL OBESITY
ORPHANET:1068 ANIRIDIA-INTELLECTUAL DEFICIT SYNDROME
ORPHANET:107 BOR SYNDROME
ORPHANET:1074 ANKYLOBLEPHARON FILIFORME - IMPERFORATE ANUS
ORPHANET:1077 DENTAL ANKYLOSIS
ORPHANET:1088 SHORT STATURE - HEART DEFECT - CRANIOFACIAL ANOMALIES
ORPHANET:11 PENTASOMY X
ORPHANET:110 BARDET-BIEDL SYNDROME
ORPHANET:1101 ANOPHTHALMIA - MEGALOCORNEA - CARDIOPATHY - SKELETAL ANOMALIES
ORPHANET:112 BARTTER SYNDROME
ORPHANET:1129 ARACHNODACTYLY - ABNORMAL OSSIFICATION - INTELLECTUAL DEFICIT
ORPHANET:1130 ARACHNODACTYLY - INTELLECTUAL DEFICIT - DYSMORPHISM
ORPHANET:1132 AORTIC ARCH DEFECTS
ORPHANET:1134 ARRHINIA
ORPHANET:1137 PULMONARY AORTIC STENOSIS OBSTRUCTIVE UROPATHY
ORPHANET:1139 ARTHROGRYPOSIS - EPILEPTIC SEIZURES - MIGRATIONAL BRAIN DISORDER
ORPHANET:1146 DIGITOTALAR DYSMORPHISM
ORPHANET:1154 ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ANOMALIES
ORPHANET:1167 FACIAL ASYMMETRY - TEMPORAL SEIZURES
ORPHANET:1173 CEREBELLAR ATAXIA - HYPOGONADISM
ORPHANET:1184 ATAXIA - PHOTOSENSITIVITY - SHORT STATURE
ORPHANET:1211 ATRICHIA - MENTAL AND GROWTH DELAY
ORPHANET:1236 INTELLECTUAL DEFICIT - ATHETOSIS- MICROPHTHALMIA
ORPHANET:124 BLACKFAN-DIAMOND DISEASE
ORPHANET:1250 BLAICHMAN SYNDROME
ORPHANET:1251 BLEPHARO-FACIO-SKELETAL SYNDROME
ORPHANET:1256 BLEPHAROPHIMOSIS - RADIOULNAR SYNOSTOSIS
ORPHANET:1258 BLEPHAROPTOSIS - CLEFT PALATE - ECTRODACTYLY - DENTAL ANOMALIES
ORPHANET:1267 BOTULISM
ORPHANET:1277 BRACHYDACTYLY - MESOMELIA - INTELLECTUAL DEFICIT - HEART DEFECTS
ORPHANET:129 PSEUDO-PELADE OF BROCQ
ORPHANET:1293 BRACHYOLMIA
ORPHANET:1305 FEINGOLD SYNDROME
ORPHANET:1309 MEDULLARY SPONGE KIDNEY
ORPHANET:1314 SYMMETRICAL THALAMIC CALCIFICATIONS
ORPHANET:1325 CAMPTODACTYLY - TAURINURIA
ORPHANET:1328 CAMURATI-ENGELMANN DISEASE
ORPHANET:1329 COMPLETE ATRIOVENTRICULAR CANAL
ORPHANET:1334 CHRONIC MUCOCUTANEOUS CANDIDIASIS
ORPHANET:1345 CARDIOMYOPATHY - CATARACT - HIP SPINE DISEASE
ORPHANET:1350 HEART-HAND SYNDROME TYPE 2
ORPHANET:1359 CARNEY COMPLEX
ORPHANET:137658 MICROCEPHALY - INTELLECTUAL DEFICIT - PHALANGEAL AND NEUROLOGICAL ANOMALIES
ORPHANET:1381 CATARACT - INTELLECTUAL DEFICIT - ANAL ATRESIA - URINARY DEFECTS
ORPHANET:1383 CATARACT - DEAFNESS - HYPOGONADISM
ORPHANET:1390 NIGHT BLINDNESS - SKELETAL ANOMALIES - DYSMORPHISM
ORPHANET:139402 DRUG RASH WITH EOSINOPHILIA AND SYSTEMIC SYMPTOMS
ORPHANET:139436 MULTICENTRIC RETICULOHISTIOCYTOSIS
ORPHANET:1398 ISOLATED CEREBELLAR HYPOPLASIA/AGENESIS
ORPHANET:140 CAMPOMELIC DYSPLASIA
ORPHANET:1406 CHARLIE M SYNDROME
ORPHANET:140966 PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE
ORPHANET:1412 TARSAL-CARPAL COALITION SYNDROME
ORPHANET:1416 FAMILIAL ARTICULAR CHONDROCALCINOSIS
ORPHANET:1420 LETHAL CHONDRODYSPLASIA, MOERMAN TYPE
ORPHANET:1423 LETHAL RECESSIVE CHONDRODYSPLASIA
ORPHANET:1425 DESBUQUOIS SYNDROME
ORPHANET:1429 BENIGN FAMILIAL CHOREA
ORPHANET:1433 CHOROIDAL ATROPHY - ALOPECIA
ORPHANET:1434 CHOROIDEREMIA - HYPOPITUITARISM
ORPHANET:1437 RING CHROMOSOME 1
ORPHANET:1438 RING CHROMOSOME 10
ORPHANET:1447 RING CHROMOSOME 4
ORPHANET:1448 RING CHROMOSOME 6
ORPHANET:1450 RING CHROMOSOME 8
ORPHANET:1452 CLEIDOCRANIAL DYSPLASIA
ORPHANET:1465 COFFIN-SIRIS SYNDROME
ORPHANET:1466 COFS SYNDROME
ORPHANET:1467 COGAN SYNDROME
ORPHANET:1478 INTERAURICULAR COMMUNICATION
ORPHANET:148 MULTIPLE CARBOXYLASE DEFICIENCY
ORPHANET:1492 CORPUS CALLOSUM AGENESIS - DOUBLE URINARY COLLECTING SYSTEM
ORPHANET:1499 CORTADA-KOUSSEF-MATSUMOTO SYNDROME
ORPHANET:1505 SHORT RIB-POLYDACTYLY SYNDROME
ORPHANET:1506 THIN RIBS - TUBULAR BONES - DYSMORPHISM
ORPHANET:1513 CRANIODIAPHYSEAL DYSPLASIA
ORPHANET:1515 CRANIOECTODERMAL DYSPLASIA
ORPHANET:1522 CRANIOMETAPHYSEAL DYSPLASIA
ORPHANET:1526 CRANIOSYNOSTOSIS - SYNOSTOSES - HYPERTENSIVE NEPHROPATHY
ORPHANET:1530 CRANIOSYNOSTOSIS - CATARACT
ORPHANET:1534 CRANIOSYNOSTOSIS-RADIAL APLASIA, IMAIZUMI TYPE
ORPHANET:1535 CRANIOSYNOSTOSIS - DYSMORPHISM - BRACHYDACTYLY
ORPHANET:154 FAMILIAL ISOLATED DILATED CARDIOMYOPATHY
ORPHANET:1548 CRYPTORCHIDISM - ARACHNODACTYLY - INTELLECTUAL DEFICIT
ORPHANET:1552 CURRARINO TRIAD
ORPHANET:1557 CUTIS VERTICIS GYRATA - INTELLECTUAL DEFICIT
ORPHANET:1564 DANDY WALKER - FACIAL HEMANGIOMA
ORPHANET:157 CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY
ORPHANET:1570 SYMBRACHYDACTYLY OF HANDS AND FEET
ORPHANET:1571 KNOBLOCH SYNDROME
ORPHANET:1572 COMMON VARIABLE IMMUNODEFICIENCY
ORPHANET:1577 INFANTILE THALAMIC DEGENERESCENCE
ORPHANET:157991 GENERALIZED ERUPTIVE HISTIOCYTOSIS
ORPHANET:157997 BENIGN CEPHALIC HISTIOCYTOSIS
ORPHANET:158000 JUVENILE XANTHOGRANULOMA
ORPHANET:158003 XANTHOMA DISSEMINATUM
ORPHANET:158008 PAPULAR XANTHOMA
ORPHANET:158022 PROGRESSIVE NODULAR HISTIOCYTOSIS
ORPHANET:1581 NON-DISTAL MONOSOMY 10Q
ORPHANET:1597 DISTAL MONOSOMY 17Q
ORPHANET:160 CASTLEMAN DISEASE
ORPHANET:1611 DELETION 20P
ORPHANET:1621 3Q13 MICRODELETION SYNDROME
ORPHANET:1625 DELETION 4Q
ORPHANET:163703 FEBRILE INFECTION-RELATED EPILEPSY SYNDROME
ORPHANET:1642 DISTAL MONOSOMY 9P
ORPHANET:165 NEUTRAL LIPID STORAGE DISEASE
ORPHANET:1651 DENNIS-COHEN SYNDROME
ORPHANET:1653 DENTIN DYSPLASIA
ORPHANET:166002 MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO COLLAGEN 9 ANOMALY
ORPHANET:1664 EMBRYONARY DISORGANIZATION SYNDROME
ORPHANET:1665 FETAL BRAIN DISRUPTION SEQUENCE
ORPHANET:1672 DIENCEPHALIC SYNDROME
ORPHANET:1681 DIPROSOPIA
ORPHANET:168491 LATE INFANTILE NEURONAL CEROID LIPOFUSCINOSIS
ORPHANET:168816 PERITONEAL CYSTIC MESOTHELIOMA
ORPHANET:168829 PRIMARY PERITONEAL CARCINOMA
ORPHANET:169090 COMBINED IMMUNODEFICIENCY DUE TO CRAC CHANNEL DYSFUNCTION
ORPHANET:169105 GOOD SYNDROME
ORPHANET:1695 NON-DISTAL TRISOMY 10Q
ORPHANET:1699 NON-DISTAL TRISOMY 12P
ORPHANET:170 WOOLLY HAIR
ORPHANET:1702 NON-DISTAL TRISOMY 13Q
ORPHANET:1703 MOSAIC TRISOMY 14
ORPHANET:1705 DISTAL TRISOMY 14Q
ORPHANET:1706 MOSAIC TRISOMY 15
ORPHANET:1707 DISTAL TRISOMY 15Q
ORPHANET:1716 DISTAL TRISOMY 18Q
ORPHANET:171829 6Q16 DELETION SYNDROME
ORPHANET:171839 CRANIOSYNOSTOSIS - HYDROCEPHALUS - CHIARI I MALFORMATION - RADIOULNAR SYNOSTOSIS
ORPHANET:172 PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS
ORPHANET:1738 TRISOMY 4P
ORPHANET:1739 DUPLICATION 4Q
ORPHANET:1742 TRISOMY 5P
ORPHANET:1745 DISTAL TRISOMY 6P
ORPHANET:175 CARTILAGE-HAIR HYPOPLASIA
ORPHANET:1752 TRISOMY 8Q
ORPHANET:1757 FIBULAR DIMELIA - DIPLOPODIA
ORPHANET:1759 THORACO-ABDOMINAL ENTERIC DUPLICATION
ORPHANET:176 NON-RHIZOMELIC CHONDRODYSPLASIA PUNCTATA
ORPHANET:1762 TRISOMY XQ28
ORPHANET:1766 DYSEQUILIBRIUM SYNDROME
ORPHANET:177 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA
ORPHANET:1773 SACROCOCCYGEAL DYSGENESIS ASSOCIATION
ORPHANET:1775 DYSKERATOSIS CONGENITA
ORPHANET:1778 FACIAL DYSMORPHISM - SHAWL SCROTUM - JOINT LAXITY
ORPHANET:1779 DYSMORPHISM - CLEFT PALATE - LOOSE SKIN
ORPHANET:178045 TRANSIENT CONGENITAL HYPOTHYROIDISM
ORPHANET:178377 OSTEOSCLEROSIS - DEVELOPMENTAL DELAY - CRANIOSYNOSTOSIS
ORPHANET:178475 WOUND BOTULISM
ORPHANET:178478 INFANT BOTULISM
ORPHANET:178481 INTESTINAL BOTULISM
ORPHANET:178487 ADULT INTESTINAL BOTULISM
ORPHANET:1789 CRANIOFACIAL DYSOSTOSIS - ARTHROGRYPOSIS - PROGEROID APPEARANCE
ORPHANET:1791 FRONTO-FACIO-NASAL DYSOSTOSIS
ORPHANET:1800 CRANIOFACIOCERVICAL OSTEOGLYPHIC DYSPLASIA
ORPHANET:1809 HIDROTIC ECTODERMAL DYSPLASIA, HALAL TYPE
ORPHANET:1810 AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA
ORPHANET:1819 EPIMETAPHYSEAL SKELETAL DYSPLASIA
ORPHANET:1823 LOCALIZED EPIPHYSEAL DYSPLASIA
ORPHANET:1825 EPIPHYSEAL DYSPLASIA - HEARING LOSS - DYSMORPHISM
ORPHANET:183 CHURG-STRAUSS SYNDROME
ORPHANET:1834 AXIAL MESODERMAL DYSPLASIA SPECTRUM
ORPHANET:1836 MESOMELIC DYSPLASIA, KANTAPUTRA TYPE
ORPHANET:183660 SEVERE COMBINED IMMUNODEFICIENCY
ORPHANET:1841 SKELETAL DYSPLASIA - OROFACIAL ANOMALIES
ORPHANET:1850 RENAL DYSPLASIA - MEGALOCYSTIS - SIRENOMELIA
ORPHANET:1863 TROCHLEAR DYSPLASIA
ORPHANET:1871 PROGRESSIVE CONE DYSTROPHY
ORPHANET:1872 CONE ROD DYSTROPHY
ORPHANET:1877 MUSCULAR DYSTROPHY - WHITE MATTER SPONGIOSIS
ORPHANET:1879 MELORHEOSTOSIS WITH OSTEOPOIKILOSIS
ORPHANET:188 SYSTEMIC CAPILLARY LEAK SYNDROME
ORPHANET:1884 ECTOPIA LENTIS - CHORIORETINAL DYSTROPHY - MYOPIA
ORPHANET:1885 ECTOPIA LENTIS SYNDROME
ORPHANET:1894 ECTRODACTYLY - SPINA BIFIDA - CARDIOPATHY
ORPHANET:189439 PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE
ORPHANET:1896 EEC SYNDROME
ORPHANET:1908 AMINOPTERIN/METHOTREXATE EMBRYOFETOPATHY
ORPHANET:1909 INDOMETHACIN EMBRYOFETOPATHY
ORPHANET:191 COCKAYNE SYNDROME
ORPHANET:1911 COCAINE EMBRYOFETOPATHY
ORPHANET:1913 FETAL TRIMETHADIONE SYNDROME
ORPHANET:1914 EMBRYOFETOPATHY DUE TO ORAL ANTICOAGULANT THERAPY
ORPHANET:1915 FETAL ALCOHOL SYNDROME
ORPHANET:1917 FETAL METHYLMERCURY SYNDROME
ORPHANET:1918 FETAL MINOXIDIL SYNDROME
ORPHANET:1919 PHENOBARBITAL EMBRYOPATHY
ORPHANET:1920 TOLUENE EMBRYOPATHY
ORPHANET:1923 METHIMAZOLE EMBRYOFETOPATHY
ORPHANET:1926 DIABETIC EMBRYOPATHY
ORPHANET:1931 FRONTAL ENCEPHALOCELE
ORPHANET:1940 SHOULDER AND THORAX DEFORMITY - CONGENITAL HEART DISEASE
ORPHANET:1949 BENIGN FAMILIAL NEONATAL SEIZURES
ORPHANET:1956 ERYTHROMELALGIA
ORPHANET:1967 COARSE FACE - HYPOTONIA - CONSTIPATION
ORPHANET:1969 FACES SYNDROME
ORPHANET:1976 FACIO-SKELETAL-GENITAL SYNDROME, RIPPBERGER TYPE
ORPHANET:1980 BILATERAL STRIOPALLIDODENTATE CALCINOSIS
ORPHANET:1981 FANCONI SYNDROME - ICHTHYOSIS - DYSMORPHISM
ORPHANET:199 CORNELIA DE LANGE SYNDROME
ORPHANET:199251 LEDDERHOSE DISEASE
ORPHANET:1995 CLEFT LIP - RETINOPATHY
ORPHANET:2005 LARYNGO-TRACHEO-ESOPHAGEAL CLEFT - PULMONARY HYPOPLASIA
ORPHANET:201 COWDEN SYNDROME
ORPHANET:2015 CLEFT PALATE - SHORT STATURE - VERTEBRAL ANOMALIES
ORPHANET:2017 STERNAL CLEFT
ORPHANET:202 CRANDALL SYNDROME
ORPHANET:2020 CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY
ORPHANET:2021 FIBROCHONDROGENESIS
ORPHANET:2024 HEREDITARY GINGIVAL FIBROMATOSIS
ORPHANET:2029 MULTIPLE NON-OSSIFYING FIBROMATOSIS
ORPHANET:2033 MULTIFOCAL MUSCULAR FIBROSIS - OBSTRUCTED VESSELS
ORPHANET:2040 CONGENITAL BRONCHOBILIARY FISTULA
ORPHANET:2042 TRACHEO-ESOPHAGEAL FISTULA - HYPOSPADIAS
ORPHANET:2045 FLOTCH SYNDROME
ORPHANET:2048 FOIX-CHAVANY-MARIE SYNDROME
ORPHANET:205 CRIGLER-NAJJAR SYNDROME
ORPHANET:2053 FREEMAN-SHELDON SYNDROME
ORPHANET:2058 FRYNS-SMEETS-THIRY SYNDROME
ORPHANET:2060 FUKUDA-MIYANOMAE-NAKATA SYNDROME
ORPHANET:2062 PROGRESSIVE NON-INFECTIOUS ANTERIOR VERTEBRAL FUSION
ORPHANET:2073 NARCOLEPSY-CATAPLEXY
ORPHANET:2074 GEMIGNANI SYNDROME
ORPHANET:2076 X-LINKED INTELLECTUAL DEFICIT - EPILEPSY
ORPHANET:2081 CEREBRAL GIGANTISM - JAW CYSTS
ORPHANET:209 CUTIS LAXA
ORPHANET:2099 GRIX-BLANKENSHIP-PETERSON SYNDROME
ORPHANET:2104 DYSMORPHISM - PECTUS CARINATUM - JOINT LAXITY
ORPHANET:2111 CYSTIC HAMARTOMA OF LUNG AND KIDNEY
ORPHANET:2120 HECKENLIVELY SYNDROME
ORPHANET:2123 DIFFUSE NEONATAL HEMANGIOMATOSIS
ORPHANET:2129 HEMIHYPERTROPHY - INTESTINAL WEB - CORNEAL OPACITY
ORPHANET:213 CYSTINOSIS
ORPHANET:2139 HERNANDEZ-AGUIRRE NEGRETE SYNDROME
ORPHANET:2140 CONGENITAL DIAPHRAGMATIC HERNIA
ORPHANET:2145 CRANIOSYNOSTOSIS, HERRMANN-OPITZ TYPE
ORPHANET:2149 NODULAR NEURONAL HETEROTOPIA
ORPHANET:2151 HIRSCHSPRUNG DISEASE - GANGLIONEUROBLASTOMA
ORPHANET:216 NEURONAL CEROID LIPOFUSCINOSIS
ORPHANET:2161 HOLOACARDIUS AMORPHUS
ORPHANET:2162 HOLOPROSENCEPHALY
ORPHANET:2165 HOLOPROSENCEPHALY - CAUDAL DYSGENESIS
ORPHANET:2171 HOON-HALL SYNDROME
ORPHANET:217390 COMBINED IMMUNODEFICIENCY DUE TO DOCK8 DEFICIENCY
ORPHANET:2183 HYDROCEPHALUS - OBESITY - HYPOGONADISM
ORPHANET:2184 HYDROCEPHALY - LOW INSERTION UMBILICUS
ORPHANET:2186 HYDROCEPHALUS - BLUE SCLERAE - NEPHROPATHY
ORPHANET:2189 HYDROLETHALUS
ORPHANET:2190 CONGENITAL HYDRONEPHROSIS
ORPHANET:2202 PALMOPLANTAR KERATODERMA-DEAFNESS SYNDROME
ORPHANET:220295 XERODERMA PIGMENTOSUM/COCKAYNE SYNDROME COMPLEX
ORPHANET:220393 DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS
ORPHANET:2204 DYSPLASTIC CORTICAL HYPEROSTOSIS
ORPHANET:220402 LIMITED CUTANEOUS SYSTEMIC SCLEROSIS
ORPHANET:220493 JOUBERT SYNDROME WITH OCULAR DEFECT
ORPHANET:220497 JOUBERT SYNDROME WITH RENAL DEFECT
ORPHANET:221 DERMATOMYOSITIS
ORPHANET:2216 MATERNAL HYPERTHERMIA INDUCED BIRTH DEFECTS
ORPHANET:222 EROSIVE PUSTULAR DERMATOSIS OF THE SCALP
ORPHANET:2221 ACQUIRED HYPERTRICHOSIS LANUGINOSA
ORPHANET:2222 HYPERTRICHOSIS LANUGINOSA CONGENITA
ORPHANET:2230 HYPOGONADOTROPIC HYPOGONADISM - FRONTOPARIETAL ALOPECIA
ORPHANET:2233 HYPOGONADISM - MITRAL VALVE PROLAPSE - INTELLECTUAL DEFICIT
ORPHANET:2235 HYPOGONADOTROPIC HYPOGONADISM - RETINITIS PIGMENTOSA
ORPHANET:2238 FAMILIAL ISOLATED HYPOPARATHYROIDISM
ORPHANET:2248 HYPOPLASTIC LEFT HEART SYNDROME
ORPHANET:2254 PONTOCEREBELLAR HYPOPLASIA TYPE 1
ORPHANET:2258 CONGENITAL UNILATERAL PULMONARY HYPOPLASIA
ORPHANET:226307 HYPOTHYROIDISM DUE TO DEFICIENT TRANSCRIPTION FACTORS INVOLVED IN PITUITARY DEVELOPMENT OR FUNCTION
ORPHANET:2268 ICF SYNDROME
ORPHANET:2271 CONGENITAL ICHTHYOSIS - MICROCEPHALUS - TETRAPLEGIA
ORPHANET:228116 HUGHES-STOVIN SYNDROME
ORPHANET:2282 DYSMORPHISM - SHORT STATURE - DEAFNESS - DISORDER OF SEX DEVELOPMENT
ORPHANET:228371 FOODBORNE BOTULISM
ORPHANET:228396 PTOSIS - UPPER OCULAR MOVEMENT LIMITATION - ABSENCE OF LACRIMAL PUNCTUM
ORPHANET:228399 8Q12 MICRODUPLICATION SYNDROME
ORPHANET:228402 2Q23.1 MICRODELETION SYNDROME
ORPHANET:228415 5Q35 MICRODUPLICATION SYNDROME
ORPHANET:2292 CONGENITAL BOWING OF LONG BONES
ORPHANET:2301 CONGENITAL SHORT BOWEL
ORPHANET:2305 ISOTRETINOIN SYNDROME
ORPHANET:2309 PACHYONYCHIA CONGENITA
ORPHANET:231 DRACUNCULIASIS
ORPHANET:2311 AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS
ORPHANET:231169 USHER SYNDROME TYPE 1
ORPHANET:231178 USHER SYNDROME TYPE 2
ORPHANET:231183 USHER SYNDROME TYPE 3
ORPHANET:231230 BETA-THALASSEMIA ASSOCIATED WITH ANOTHER HEMOGLOBIN ANOMALY
ORPHANET:231242 HEMOGLOBIN C - BETA-THALASSEMIA
ORPHANET:231249 HEMOGLOBIN E - BETA-THALASSEMIA
ORPHANET:231256 BETA-THALASSEMIA - TRICHOTHIODYSTROPHY
ORPHANET:231736 MICROCORNEA - POSTERIOR MEGALOLENTICONUS - PERSISTENT FETAL VASCULATURE - COLOBOMA
ORPHANET:2318 JOUBERT SYNDROME WITH OCULORENAL DEFECT
ORPHANET:2322 KABUKI SYNDROME
ORPHANET:2325 EPIDERMOLYSIS BULLOSA SIMPLEX WITH ANODONTIA/HYPODONTIA
ORPHANET:2326 KALLMANN SYNDROME - HEART DISEASE
ORPHANET:233 DUANE SYNDROME
ORPHANET:2333 KENNY-CAFFEY SYNDROME
ORPHANET:2340 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS
ORPHANET:2345 ISOLATED KLIPPEL-FEIL SYNDROME
ORPHANET:2346 ANGIO-OSTEOHYPERTROPHIC SYNDROME
ORPHANET:2349 MUSCULAR PSEUDOHYPERTROPHY - HYPOTHYROIDISM
ORPHANET:2351 KOUSSEFF SYNDROME
ORPHANET:2352 KOZLOWSKI-BROWN-HARDWICK SYNDROME
ORPHANET:236 TRISOMY 9P
ORPHANET:2369 LIMB BODY WALL COMPLEX
ORPHANET:2386 LEUKOENCEPHALOPATHY-PALMOPLANTAR KERATODERMA SYNDROME
ORPHANET:238606 PRIMARY ORTHOSTATIC TREMOR
ORPHANET:238769 1Q44 MICRODELETION SYNDROME
ORPHANET:239 DYGGVE-MELCHIOR-CLAUSEN DISEASE
ORPHANET:2406 LOCKED-IN SYNDROME
ORPHANET:241 DYSCHROMATOSIS UNIVERSALIS
ORPHANET:2416 CONGENITAL PRIMARY LYMPHEDEMA
ORPHANET:242 46,XY COMPLETE GONADAL DYSGENESIS
ORPHANET:2427 MACROCEPHALY - SHORT STATURE - PARAPLEGIA
ORPHANET:243 46,XX GONADAL DYSGENESIS
ORPHANET:2431 CENTRAL BILATERAL MACROGYRIA
ORPHANET:244 PRIMARY CILIARY DYSKINESIA
ORPHANET:2440 SPLIT HAND-SPLIT FOOT MALFORMATION
ORPHANET:2442 X-LINKED LYMPHOPROLIFERATIVE DISEASE
ORPHANET:2444 CONGENITAL PULMONARY AIRWAY MALFORMATION OF THE LUNG
ORPHANET:2449 INTRACRANIAL ARTERIOVENOUS MALFORMATION
ORPHANET:2457 MANDIBULOACRAL DYSPLASIA
ORPHANET:2458 MANDIBULOFACIAL DYSOSTOSIS - DEAFNESS - POSTAXIAL POLYDACTYLY
ORPHANET:2467 SYSTEMIC MASTOCYTOSIS
ORPHANET:2474 MCLAIN-DEKABAN SYNDROME
ORPHANET:2476 MEDEIRA-DENNIS-DONNAI SYNDROME
ORPHANET:2477 MEGALENCEPHALY
ORPHANET:248 AUTOSOMAL RECESSIVE HYPOHIDROTIC ECTODERMAL DYSPLASIA
ORPHANET:2482 MELHEM-FAHL SYNDROME
ORPHANET:2486 TRANSVERSE LIMB DEFICIENCY - HEMANGIOMA
ORPHANET:2487 LOWER LIMB DEFICIENCY - HYPOSPADIAS
ORPHANET:2507 MICKLESON SYNDROME
ORPHANET:250984 AUTOSOMAL RECESSIVE STICKLER SYNDROME
ORPHANET:251 MULTIPLE EPIPHYSEAL DYSPLASIA
ORPHANET:2510 MICRO SYNDROME
ORPHANET:251014 2Q31.1 MICRODELETION SYNDROME
ORPHANET:251046 6P22 MICRODELETION SYNDROME
ORPHANET:251066 8P11.2 DELETION SYNDROME
ORPHANET:251071 8P23.1 MICRODELETION SYNDROME
ORPHANET:251076 8P23.1 MICRODUPLICATION SYNDROME
ORPHANET:251510 46,XY PARTIAL GONADAL DYSGENESIS
ORPHANET:2519 MICROCEPHALY - SEIZURES - INTELLECTUAL DEFICIT - HEART DISEASE
ORPHANET:2521 MICROCEPHALY - CLEFT PALATE
ORPHANET:2528 MICROCEPHALY-MICROCORNEA SYNDROME, SEEMANOVA TYPE
ORPHANET:2535 MICROCORNEA - CORECTOPIA - MACULAR HYPOPLASIA
ORPHANET:2543 MICROPHTHALMIA - CATARACT
ORPHANET:254346 19P13.12 MICRODELETION SYNDROME
ORPHANET:254504 INHALATIONAL BOTULISM
ORPHANET:254509 IATROGENIC BOTULISM
ORPHANET:2547 MICROPHTHALMIA - MICROTIA - FETAL AKINESIA
ORPHANET:255 DOPA-RESPONSIVE DYSTONIA
ORPHANET:2554 EAR-PATELLA-SHORT STATURE SYNDROME
ORPHANET:2556 MIDAS SYNDROMEMICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME
ORPHANET:2558 MIKATI-NAJJAR-SAHLI SYNDROME
ORPHANET:256 EARLY ONSET TORSION DYSTONIA
ORPHANET:2573 MOYAMOYA DISEASE
ORPHANET:2580 SHOULDER AND GIRDLE DEFECTS - FAMILIAL INTELLECTUAL DEFICIT
ORPHANET:2582 MYALGIA-EOSINOPHILIA SYNDROME ASSOCIATED WITH TRYPTOPHAN
ORPHANET:2598 MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
ORPHANET:2601 MYOPATHY - GROWTH DELAY - INTELLECTUAL DEFICIT - HYPOSPADIAS
ORPHANET:261 EMERY-DREIFUSS MUSCULAR DYSTROPHY
ORPHANET:2611 LINEAR VERRUCOUS NEVUS SYNDROME
ORPHANET:261102 DISTAL 7Q11.23 MICRODUPLICATION SYNDROME
ORPHANET:261144 14Q12 MICRODELETION SYNDROME
ORPHANET:261190 15Q14 MICRODELETION SYNDROME
ORPHANET:261236 16P13.11 MICRODELETION SYNDROME
ORPHANET:261243 16P13.11 MICRODUPLICATION SYNDROME
ORPHANET:261250 16Q24.3 MICRODELETION SYNDROME
ORPHANET:261290 TRISOMY 17P
ORPHANET:261295 20P12.3 MICRODELETION SYNDROME
ORPHANET:261304 PATERNAL 20Q13.2Q13.3 MICRODELETION SYNDROME
ORPHANET:261337 DISTAL 22Q11.2 MICRODUPLICATION SYNDROME
ORPHANET:261344 TRISOMY 1Q
ORPHANET:2616 3M SYNDROME
ORPHANET:262 DUCHENNE AND BECKER MUSCULAR DYSTROPHY
ORPHANET:2621 LOW BIRTH WEIGHT - DWARFISM - DYSGAMMAGLOBULINEMIA
ORPHANET:2623 GELEOPHYSIC DYSPLASIA
ORPHANET:2626 HYPOPITUITARISM - SHORT STATURE - SKELETAL ANOMALIES
ORPHANET:2636 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES 1 AND 3
ORPHANET:264200 14Q22Q23 MICRODELETION SYNDROME
ORPHANET:2653 OSTEOCHONDRODYSPLATIC NANISM - DEAFNESS - RETINITIS PIGMENTOSA
ORPHANET:2655 THANATOPHORIC DYSPLASIA
ORPHANET:2666 ADULT FAMILIAL NEPHRONOPHTISIS - SPASTIC QUADRIPARESIA
ORPHANET:2675 NEUROAXONAL DYSTROPHY - RENAL TUBULAR ACIDOSIS
ORPHANET:2676 NEUROECTODERMAL-ENDOCRINE SYNDROME
ORPHANET:2679 INFANTILE AXONAL NEUROPATHY
ORPHANET:26790 PSEUDOMYXOMA PERITONEI
ORPHANET:2680 HYPOMYELINATION NEUROPATHY - ARTHROGRYPOSIS
ORPHANET:268249 MYCOPHENOLATE MOFETIL EMBRYOPATHY
ORPHANET:269 FACIOSCAPULOHUMERAL DYSTROPHY
ORPHANET:2690 NEUTROPENIA - MONOCYTOPENIA - DEAFNESS
ORPHANET:2694 EPIDERMAL NEVUS - VITAMIN D RESISTANT RICKETS
ORPHANET:2695 BIFID NOSE
ORPHANET:2697 ARTHROGRYPOSIS - RENAL DYSFUNCTION - CHOLESTASIS
ORPHANET:2703 PORT-WINE NEVI - MEGA CISTERNA MAGNA - HYDROCEPHALUS
ORPHANET:2705 OCULOCEREBRAL DYSPLASIA
ORPHANET:2706 OCULO-CEREBRO-ACRAL SYNDROME
ORPHANET:2708 OCULO-CEREBRO-OSSEOUS SYNDROME
ORPHANET:2710 OCULODENTODIGITAL DYSPLASIA
ORPHANET:2716 OCULO-SKELETAL-RENAL SYNDROME
ORPHANET:2722 ODONTO-ONYCHO DYSPLASIA - ALOPECIA
ORPHANET:2732 OLIVOPONTOCEREBELLAR ATROPHY - DEAFNESS
ORPHANET:2733 OMODYSPLASIA
ORPHANET:2742 OPHTHALMOPLEGIA - MYALGIA - TUBULAR AGGREGATES
ORPHANET:2745 OPITZ G/BBB SYNDROME
ORPHANET:2749 ORO-MANDIBULAR-LIMB HYPOGENESIS SYNDROME
ORPHANET:2754 JOUBERT SYNDROME WITH OROFACIODIGITAL DEFECT
ORPHANET:275543 L1 SYNDROME
ORPHANET:2759 IMPERFORATE OROPHARYNX - COSTO VETEBRAL ANOMALIES
ORPHANET:276413 10Q22.3Q23.3 MICRODELETION SYNDROME
ORPHANET:276422 10Q22.3Q23.3 MICRODUPLICATION SYNDROME
ORPHANET:276630 SYMPTOMATIC FORM OF COFFIN-LOWRY SYNDROME IN FEMALE CARRIERS
ORPHANET:2768 BLOUNT DISEASE
ORPHANET:2771 BRUCK SYNDROME
ORPHANET:2773 OSTEOGENESIS IMPERFECTA - RETINOPATHY - SEIZURES - INTELLECTUAL DEFICIT
ORPHANET:2778 JUVENILE CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS
ORPHANET:2785 OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS
ORPHANET:2787 OSTEOPOROSIS - MACROCEPHALY - BLINDNESS - JOINT HYPERLAXITY
ORPHANET:2795 POLYCYSTIC OVARIES - URETHRAL SPHINCTER DYSFUNCTION
ORPHANET:2796 PACHYDERMOPERIOSTOSIS
ORPHANET:2805 PARTIAL PANCREATIC AGENESIS
ORPHANET:281122 SELF-HEALING COLLODION BABY
ORPHANET:281127 ACRAL SELF-HEALING COLLODION BABY
ORPHANET:2819 SPASTIC PARAPLEGIA - FACIAL-CUTANEOUS LESIONS
ORPHANET:2833 STIFF SKIN SYNDROME
ORPHANET:2838 RENAL CALICEAL DIVERTICULI - DEAFNESS
ORPHANET:2842 PENOSCROTAL TRANSPOSITION
ORPHANET:284400 SMALL CELL CARCINOMA OF THE BLADDER
ORPHANET:2846 CONGENITAL PERICARDIUM ANOMALY
ORPHANET:2847 PERICARDIAL AND DIAPHRAGMATIC DEFECT
ORPHANET:2850 ALOPECIA-INTELLECTUAL DEFICIT SYNDROME
ORPHANET:2853 SERPENTINE FIBULA - POLYCYSTIC KIDNEYS
ORPHANET:2855 PERRAULT SYNDROME
ORPHANET:2858 SHORT STATURE - CONTRACTURES - HYPOTONIA
ORPHANET:2860 PREEYASOMBAT-VARAVITHYA SYNDROME
ORPHANET:2861 SHORT STATURE - MICROCEPHALY - HEART DEFECT
ORPHANET:2864 SHORT STATURE - PROGNATHISM - SHORT FEMORAL NECKS
ORPHANET:2865 SHORT STATURE - WEBBED NECK - HEART DISEASE
ORPHANET:2866 SHORT STATURE - DEAFNESS - NEUTROPHIL DYSFUNCTION - DYSMORPHISM
ORPHANET:287 EHLERS-DANLOS SYNDROME, CLASSIC TYPE
ORPHANET:2875 PHAKOMATOSIS PIGMENTOVASCULARIS
ORPHANET:2890 PILI TORTI - ONYCHODYSPLASIA
ORPHANET:2894 PILOTTO SYNDROME
ORPHANET:290 CONGENITAL RUBELLA SYNDROME
ORPHANET:2905 POEMS SYNDROME
ORPHANET:2907 HEREDITARY ACROKERATOTIC POIKILODERMA, WEARY TYPE
ORPHANET:2908 KINDLER SYNDROME
ORPHANET:291 FETAL VARICELLA SYNDROME
ORPHANET:29207 REACTIVE ARTHRITIS
ORPHANET:2921 PREAXIAL POLYDACTYLY - COLOBOMATA - INTELLECTUAL DEFICIT
ORPHANET:2927 POLYNEUROPATHY - HEPATOSPLENOMEGALY - HYPERPIGMENTATION
ORPHANET:2928 POLYNEUROPATHY - INTELLECTUAL DEFICIT - ACROMICRIA - PREMATURE MENOPAUSE
ORPHANET:293 CONGENITAL HERPES VIRUS INFECTION
ORPHANET:294 FETAL CYTOMEGALOVIRUS SYNDROME
ORPHANET:2940 PORENCEPHALY
ORPHANET:295 FETAL PARVOVIRUS SYNDROME
ORPHANET:2956 PRATA-LIBERAL-GONCALVES SYNDROME
ORPHANET:2962 DE BARSY SYNDROME
ORPHANET:2968 LEUKOCYTE ADHESION DEFICIENCY
ORPHANET:2973 46,XX DISORDER OF SEX DEVELOPMENT - ANORECTAL ANOMALIES
ORPHANET:2978 CHRONIC INTESTINAL PSEUDO-OBSTRUCTION
ORPHANET:2981 PSEUDO-ZELLWEGER SYNDROME
ORPHANET:2995 BARAITSER-WINTER SYNDROME
ORPHANET:3004 MIRROR POLYDACTYLY - VERTEBRAL SEGMENTATION - LIMBS DEFECTS
ORPHANET:3013 RADICULOMEGALY OF CANINE TEETH- CONGENITAL CATARACT
ORPHANET:302 EPIDERMODYSPLASIA VERRUCIFORMIS
ORPHANET:303 DYSTROPHIC EPIDERMOLYSIS BULLOSA
ORPHANET:3033 RENAL TUBULAR DYSGENESIS
ORPHANET:3036 INTRAUTERINE GROWTH RETARDATION - MANDIBULAR MALAR HYPOPLASIA
ORPHANET:304 EPIDERMOLYSIS BULLOSA SIMPLEX
ORPHANET:3043 INTELLECTUAL DEFICIT - UNUSUAL FACIES
ORPHANET:3046 INTELLECTUAL DEFICIT-UNUSUAL FACIES, DAVIS-LAFER TYPE
ORPHANET:3048 INTELLECTUAL DEFICIT - HYPOCUPREMIA - HYPOBETALIPOPROTEINEMIA
ORPHANET:305 JUNCTIONAL EPIDERM