db	id	label
DECIPHER	15	NF1-microdeletion syndrome
DECIPHER	45	Xq28 (MECP2) duplication
DECIPHER	65	ATR-16 syndrome
OMIM	100050	AARSKOG SYNDROME, AUTOSOMAL DOMINANT
OMIM	100650	ALDEHYDE DEHYDROGENASE 2 FAMILY
OMIM	101800	ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1
OMIM	102500	HAJDU-CHENEY SYNDROME; HJCYS
OMIM	102510	ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF
OMIM	102700	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
OMIM	102800	ADENOSINE TRIPHOSPHATASE DEFICIENCY, ANEMIA DUE TO
OMIM	103050	ADENYLOSUCCINASE DEFICIENCY
OMIM	103420	ALACRIMA, CONGENITAL
OMIM	103470	ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS
OMIM	103900	GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM
OMIM	104000	ALOPECIA AREATA 1
OMIM	104110	ALOPECIA, FAMILIAL FOCAL
OMIM	104200	ALPORT SYNDROME, AUTOSOMAL DOMINANT
OMIM	105120	AMYLOIDOSIS, FINNISH TYPE
OMIM	105250	AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1; PLCA1
OMIM	105830	ANGELMAN SYNDROME
OMIM	106260	ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE
OMIM	107250	ANTERIOR SEGMENT DYSGENESIS 1; ASGD1
OMIM	107320	ANTIPHOSPHOLIPID SYNDROME, FAMILIAL
OMIM	107480	TOWNES-BROCKS SYNDROME 1; TBS1
OMIM	107550	AORTIC ARCH INTERRUPTION, FACIAL PALSY, AND RETINAL COLOBOMA
OMIM	107680	APOLIPOPROTEIN A-I; APOA1
OMIM	108050	ARTERITIS, FAMILIAL GRANULOMATOUS, WITH JUVENILE POLYARTHRITIS
OMIM	108120	ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A
OMIM	108145	ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5
OMIM	108320	ARTICHOKE, MODIFICATION OF TASTE BY
OMIM	108650	SPASTIC ATAXIA 7, AUTOSOMAL DOMINANT; SPAX7
OMIM	108721	ATELOSTEOGENESIS, TYPE III; AOIII
OMIM	109120	AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES
OMIM	109150	MACHADO-JOSEPH DISEASE; MJD
OMIM	109160	AZOTEMIA, FAMILIAL
OMIM	109200	ALOPECIA, ANDROGENETIC, 1
OMIM	109400	BASAL CELL NEVUS SYNDROME
OMIM	109650	BEHCET SYNDROME
OMIM	109820	BLADDER DIVERTICULUM
OMIM	110100	BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS
OMIM	112450	BRACHYDACTYLY, PREAXIAL, WITH HALLUX VARUS AND THUMB ABDUCTION
OMIM	112500	BRACHYDACTYLY, TYPE A1; BDA1
OMIM	112910	BRACHYDACTYLY, TYPE A6
OMIM	113300	BRACHYDACTYLY, TYPE E
OMIM	113450	BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME
OMIM	113620	BRANCHIOOCULOFACIAL SYNDROME
OMIM	113650	BRANCHIOOTORENAL SYNDROME 1
OMIM	113670	BREAST, UNILATERAL GIANT
OMIM	114150	CAMPTOBRACHYDACTYLY
OMIM	115150	CARDIOFACIOCUTANEOUS SYNDROME 1; CFC1
OMIM	115250	COLLAGENOMA, FAMILIAL CUTANEOUS
OMIM	115310	PARAGANGLIOMAS 4
OMIM	115645	CATARACT, ABERRANT ORAL FRENULA, AND GROWTH RETARDATION
OMIM	115650	CATARACT, ANTERIOR POLAR, 1
OMIM	116300	CATARACT 30, MULTIPLE TYPES
OMIM	116600	CATARACT, POSTERIOR POLAR, 1 CTPA CATARACT, CONGENITAL TOTAL, INCLUDED
OMIM	116800	CATARACT, LAMELLAR
OMIM	117300	DEMENTIA, FAMILIAL DANISH
OMIM	118100	KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1
OMIM	118200	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B
OMIM	118220	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A
OMIM	118230	CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE
OMIM	118301	CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM
OMIM	118430	CHLORPROPAMIDE-ALCOHOL FLUSHING; CPAF
OMIM	118450	ALAGILLE SYNDROME 1; ALGS1
OMIM	118800	PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1
OMIM	118865	CHOROIDAL OSTEOMA, BILATERAL
OMIM	119300	VAN DER WOUDE SYNDROME
OMIM	119500	POPLITEAL PTERYGIUM SYNDROME
OMIM	119600	CLEIDOCRANIAL DYSPLASIA; CCD
OMIM	120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1
OMIM	120300	COLOBOMA OF MACULA
OMIM	120330	PAPILLORENAL SYNDROME
OMIM	121300	COPROPORPHYRIA, HEREDITARY; HCP
OMIM	121390	CORNEA GUTTATA WITH ANTERIOR POLAR CATARACTS
OMIM	122000	CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1
OMIM	122200	CORNEAL DYSTROPHY, LATTICE TYPE I
OMIM	122470	CORNELIA DE LANGE SYNDROME 1
OMIM	122580	COSTOCORACOID LIGAMENT, CONGENITALLY SHORT
OMIM	122600	SPONDYLOCOSTAL DYSOSTOSIS 5
OMIM	122860	CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CDD
OMIM	123000	CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
OMIM	123150	JACKSON-WEISS SYNDROME; JWS
OMIM	123450	CRI-DU-CHAT SYNDROME
OMIM	123570	CRYPTOPHTHALMOS, UNILATERAL OR BILATERAL, ISOLATED; CRYPTOP
OMIM	125250	OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
OMIM	125400	DENTIN DYSPLASIA, TYPE I; DTDP1
OMIM	125500	DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III
OMIM	125595	DERMATOPATHIA PIGMENTOSA RETICULARIS; DPR
OMIM	125630	DERMODISTORTIVE URTICARIA
OMIM	125800	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL
OMIM	126200	MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO
OMIM	126800	DUANE RETRACTION SYNDROME 1
OMIM	127000	KENNY-CAFFEY SYNDROME, TYPE 2; KCS2
OMIM	127300	LERI-WEILL DYSCHONDROSTEOSIS
OMIM	129400	RAPP-HODGKIN SYNDROME; RHS
OMIM	129900	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1
OMIM	130000	EHLERS-DANLOS SYNDROME, TYPE I
OMIM	130010	EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2; EDSCL2
OMIM	130050	EHLERS-DANLOS SYNDROME, VASCULAR TYPE; EDSVASC
OMIM	130090	EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED
OMIM	130650	BECKWITH-WIEDEMANN SYNDROME
OMIM	133100	ERYTHROCYTOSIS, FAMILIAL, 1; ECYT1
OMIM	133540	COCKAYNE SYNDROME, TYPE B; CSB
OMIM	133700	EXOSTOSES, MULTIPLE, TYPE I
OMIM	133701	EXOSTOSES, MULTIPLE, TYPE II
OMIM	133780	EXUDATIVE VITREORETINOPATHY 1; EVR1
OMIM	134000	FACIAL HYPERTRICHOSIS
OMIM	134540	FACTOR IX AND FACTOR XI, COMBINED DEFICIENCY OF
OMIM	134610	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT
OMIM	135150	BIRT-HOGG-DUBE SYNDROME
OMIM	135500	ZIMMERMANN-LABAND SYNDROME 1
OMIM	135700	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1; CFEOM1
OMIM	135900	COFFIN-SIRIS SYNDROME 1; CSS1
OMIM	136480	FOURTH CRANIAL NERVE PALSY, FAMILIAL CONGENITAL
OMIM	136680	FRASIER SYNDROME
OMIM	137575	GIGANTIFORM CEMENTOMA, FAMILIAL
OMIM	137940	HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS
OMIM	138770	GMS SYNDROME
OMIM	138800	GOITER, MULTINODULAR 1
OMIM	139500	HAIRY EARS
OMIM	140000	HAND-FOOT-GENITAL SYNDROME; HFG
OMIM	140700	HEINZ BODY ANEMIAS
OMIM	141300	HEMIFACIAL ATROPHY, PROGRESSIVE; HFA
OMIM	141500	MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1
OMIM	141700	HEMOLYTIC POIKILOCYTIC ANEMIA DUE TO REDUCED ANKYRIN BINDING SITES
OMIM	141750	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED
OMIM	142625	HIRSUTISM, SKELETAL DYSPLASIA, AND MENTAL RETARDATION
OMIM	143850	ORTHOSTATIC HYPOTENSIVE DISORDER, STREETEN TYPE
OMIM	143890	HYPERCHOLESTEROLEMIA, FAMILIAL
OMIM	144010	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B
OMIM	144300	HYPERLIPOPROTEINEMIA, TYPE II, AND DEAFNESS
OMIM	144600	HYPERLIPOPROTEINEMIA, TYPE IV
OMIM	144750	ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT
OMIM	144755	HYPEROSTOSIS CRANIALIS INTERNA; HCIN
OMIM	145001	HYPERPARATHYROIDISM 2
OMIM	145260	PSEUDOHYPOALDOSTERONISM, TYPE II
OMIM	145410	OPITZ GBBB SYNDROME, TYPE II; GBBB2
OMIM	145750	HYPERTRIGLYCERIDEMIA, FAMILIAL
OMIM	145900	HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
OMIM	146255	HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE
OMIM	146500	MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO; MSA1
OMIM	146840	IMMUNODEFICIENCY WITH DEFECTIVE LEUKOCYTE AND LYMPHOCYTE FUNCTION AND WITH RESPONSE TO HISTAMINE-1 ANTAGONIST
OMIM	147300	INCISORS, LONG UPPER CENTRAL
OMIM	148210	KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT
OMIM	148730	KERATOSIS, FOCAL PALMOPLANTAR AND GINGIVAL
OMIM	148820	WAARDENBURG SYNDROME, TYPE 3; WS3
OMIM	149700	LACRIMAL DUCT DEFECT
OMIM	149730	LACRIMOAURICULODENTODIGITAL SYNDROME; LADD
OMIM	150230	TRICHORHINOPHALANGEAL SYNDROME, TYPE II
OMIM	150250	LARSEN SYNDROME; LRS
OMIM	150590	LEG ULCERS, FAMILIAL, OF JUVENILE ONSET
OMIM	150699	LEIOMYOMA, UTERINE; UL
OMIM	150800	HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC
OMIM	151050	LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM
OMIM	151100	LEOPARD SYNDROME 1
OMIM	151200	CHROMOSOME 8q22.1 DUPLICATION SYNDROME
OMIM	151380	LEUKEMIA, ACUTE MONOCYTIC
OMIM	151400	LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL
OMIM	151660	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
OMIM	153470	MACROCEPHALY, BENIGN FAMILIAL
OMIM	153480	BANNAYAN-RILEY-RUVALCABA SYNDROME
OMIM	153550	CHROMOSOME 5Q DELETION SYNDROME
OMIM	153640	FECHTNER SYNDROME
OMIM	154400	ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1
OMIM	154500	TREACHER COLLINS-FRANCESCHETTI SYNDROME
OMIM	154780	MARSHALL SYNDROME; MRSHS
OMIM	155100	MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS; MATINS
OMIM	155310	VISCERAL MYOPATHY; VSCM
OMIM	155600	MELANOMA, CUTANEOUS MALIGNANT
OMIM	156200	MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1CHROMOSOME 2q23.1 DELETION SYNDROME, INCLUDED
OMIM	156550	KNIEST DYSPLASIA
OMIM	156580	MICROCEPHALY, AUTOSOMAL DOMINANT
OMIM	157170	HOLOPROSENCEPHALY 2; HPE2
OMIM	157300	MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
OMIM	157900	MOEBIUS SYNDROME; MBS
OMIM	158310	MUCOEPITHELIAL DYSPLASIA, HEREDITARY
OMIM	158650	MUSCULAR ATROPHY, MALIGNANT NEUROGENIC
OMIM	159550	MYELOCEREBELLAR DISORDER
OMIM	159580	MYELOPATHY, HTLV-1-ASSOCIATED
OMIM	159900	DYSTONIA 11, MYOCLONIC
OMIM	160900	MYOTONIC DYSTROPHY 1
OMIM	161200	NAIL-PATELLA SYNDROME
OMIM	161400	NARCOLEPSY 1; NRCLP1
OMIM	161700	NECROTIZING ENCEPHALOMYELOPATHY, SUBACUTE, OF LEIGH, ADULT
OMIM	161950	IgA NEPHROPATHY, SUSCEPTIBILITY TO, 1; IGAN1
OMIM	162100	AMYOTROPHY, HEREDITARY NEURALGIC; HNA
OMIM	162200	NEUROFIBROMATOSIS, TYPE I
OMIM	162240	NEUROFIBROMATOSIS-PHEOCHROMOCYTOMA-DUODENAL CARCINOID SYNDROME
OMIM	162350	CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT; CLN4B
OMIM	162400	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA; HSAN1A
OMIM	162820	NEUTROPHIL CHEMOTACTIC RESPONSE
OMIM	162900	NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC
OMIM	163200	SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME; SFM
OMIM	163400	NIEVERGELT SYNDROME
OMIM	163950	NOONAN SYNDROME 1; NS1
OMIM	164180	OCULOCEREBROCUTANEOUS SYNDROME
OMIM	164280	FEINGOLD SYNDROME 1; FGLDS1
OMIM	164330	ODONTOMA-DYSPHAGIA SYNDROME
OMIM	164400	SPINOCEREBELLAR ATAXIA 1
OMIM	164500	SPINOCEREBELLAR ATAXIA 7 OPCA III OPCA WITH RETINAL DEGENERATION OPCA WITH MACULAR DEGENERATION AND EXTERNAL OPHTHALMOPLEGIA AUTOSOMAL DOMINANT CEREBELLAR ATAXIA, TYPE II ADCA, TYPE II
OMIM	165500	OPTIC ATROPHY 1; OPA1
OMIM	165600	ORBITAL MARGIN, HYPOPLASIA OF
OMIM	166210	OSTEOGENESIS IMPERFECTA, TYPE IIA
OMIM	166250	OSTEOGLOPHONIC DYSPLASIA; OGD
OMIM	166300	MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; MCTO
OMIM	166400	OSTEOMAS OF MANDIBLE
OMIM	166705	OSTEOPOIKILOSIS AND DACRYOCYSTITIS
OMIM	166780	OTOFACIOCERVICAL SYNDROME
OMIM	167730	NASOPALPEBRAL LIPOMA-COLOBOMA SYNDROME; NPLCS
OMIM	167800	PANCREATITIS, HEREDITARY
OMIM	168000	PARAGANGLIOMAS 1
OMIM	170650	PERIODONTITIS, AGGRESSIVE, 1
OMIM	171000	PEYRONIE DISEASE
OMIM	171300	PHEOCHROMOCYTOMA
OMIM	171400	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A
OMIM	171420	PHEOCHROMOCYTOMA--ISLET CELL TUMOR SYNDROME
OMIM	171450	PHLEBECTASIA OF LIPS
OMIM	172500	PHOTOMYOCLONUS, DIABETES MELLITUS, DEAFNESS, NEPHROPATHY, AND CEREBRALDYSFUNCTION
OMIM	172700	PICK DISEASE OF BRAIN
OMIM	173100	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II; IGHD2
OMIM	173470	+173470 INTEGRIN, BETA-3; ITGB3
OMIM	173600	PNEUMOTHORAX, PRIMARY SPONTANEOUS
OMIM	173650	KINDLER SYNDROME; KNDLRS
OMIM	173800	POLAND SYNDROME
OMIM	174000	MEDULLARY CYSTIC KIDNEY DISEASE 1; MCKD1
OMIM	174770	ACTINIC PRURIGOPOLYMORPHIC LIGHT ERUPTION, HEREDITARY; HPLE
OMIM	174800	MCCUNE-ALBRIGHT SYNDROME; MAS
OMIM	175100	FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1
OMIM	175700	GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
OMIM	175780	BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES; BSVD1
OMIM	176000	PORPHYRIA, ACUTE INTERMITTENT
OMIM	176100	PORPHYRIA CUTANEA TARDA
OMIM	176270	PRADER-WILLI SYNDROME; PWS
OMIM	176305	PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS
OMIM	176410	PRECOCIOUS PUBERTY, MALE-LIMITED
OMIM	176450	CURRARINO SYNDROME
OMIM	176690	PROGEROID SHORT STATURE WITH PIGMENTED NEVI
OMIM	176860	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMALDOMINANT
OMIM	177200	LIDDLE SYNDROME 1; LIDLS1
OMIM	177735	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT; PHA1A
OMIM	178000	PTERYGIUM OF CONJUNCTIVA AND CORNEA
OMIM	178110	CONTRACTURES, PTERYGIA, AND VARIABLE SKELETAL FUSIONS SYNDROME 1A; CPSKF1A
OMIM	178600	PULMONARY HYPERTENSION, PRIMARY, 1; PPH1
OMIM	178610	PULMONARY NODULAR LYMPHOID HYPERPLASIA, FAMILIAL
OMIM	179830	RENAL TUBULAR ACIDOSIS, PROXIMAL
OMIM	180000	RETINAL ARTERIES, TORTUOSITY OF
OMIM	180200	RETINOBLASTOMA; RB1
OMIM	180500	AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1
OMIM	180550	RING DERMOID OF CORNEA; RDC
OMIM	180700	ROBINOW SYNDROME, AUTOSOMAL DOMINANT; DRS
OMIM	180849	RUBINSTEIN-TAYBI SYNDROME 1; RSTS1
OMIM	180870	RUVALCABA SYNDROME
OMIM	180920	APLASIA OF LACRIMAL AND SALIVARY GLANDS
OMIM	181000	SARCOIDOSIS, SUSCEPTIBILITY TO, 1; SS1
OMIM	181180	SAY SYNDROME
OMIM	182210	SHPRINTZEN OMPHALOCELE SYNDROME
OMIM	182250	SINGLETON-MERTEN SYNDROME 1; SGMRT1
OMIM	182690	SPASTIC PARAPLEGIA, SENSORINEURAL DEAFNESS, MENTAL RETARDATION, AND
OMIM	183090	SPINOCEREBELLAR ATAXIA 2; SCA2
OMIM	183400	SPLIT LOWER LIP
OMIM	183802	SPLIT-HAND WITH OBSTRUCTIVE UROPATHY, SPINA BIFIDA, AND DIAPHRAGMATICDEFECTS
OMIM	184253	SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE
OMIM	184460	STAPES ANKYLOSIS WITH BROAD THUMB AND TOES
OMIM	184850	STIFF-PERSON SYNDROME; SPS
OMIM	185700	SYMPHALANGISM, DISTAL
OMIM	185750	SYMPHALANGISM WITH MULTIPLE ANOMALIES OF HANDS AND FEET
OMIM	185800	SYMPHALANGISM, PROXIMAL, 1A; SYM1A
OMIM	185900	CHROMOSOME 2q35 DUPLICATION SYNDROME
OMIM	186000	SYNPOLYDACTYLY 1
OMIM	186200	SYNDACTYLY, TYPE IV; SDTY4
OMIM	186300	SYNDACTYLY, TYPE V
OMIM	186350	SYNDACTYLY-POLYDACTYLY-EARLOBE SYNDROME
OMIM	186500	MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1
OMIM	186570	TARSAL-CARPAL COALITION SYNDROME; TCC; SYNOSTOSIS OF TALUS AND CALCANEUS WITH SHORT STATURE, INCLUDED
OMIM	186580	BLAU SYNDROME
OMIM	187300	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER;HHT
OMIM	187400	TESTICULAR TORSION
OMIM	187600	THANATOPHORIC DYSPLASIA, TYPE I
OMIM	187601	THANATOPHORIC DYSPLASIA, TYPE II
OMIM	188400	DIGEORGE SYNDROME; DGS
OMIM	190320	TRICHODENTOOSSEOUS SYNDROME
OMIM	190350	TRICHORHINOPHALANGEAL SYNDROME, TYPE I
OMIM	190351	TRICHORHINOPHALANGEAL SYNDROME, TYPE III; TRPS3
OMIM	190685	DOWN SYNDROMETRISOMY 21, INCLUDED
OMIM	190900	TRITANOPIA
OMIM	191482	UNCOMBABLE HAIR, RETINAL PIGMENTARY DYSTROPHY, DENTAL ANOMALIES, ANDBRACHYDACTYLY
OMIM	191650	URETEROCELE
OMIM	191830	RENAL HYPODYSPLASIA/APLASIA 1; RHDA1
OMIM	191900	MUCKLE-WELLS SYNDROME; MWS
OMIM	192315	VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL
OMIM	192430	VELOCARDIOFACIAL SYNDROME
OMIM	192600	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1
OMIM	193400	VON WILLEBRAND DISEASE, TYPE 1; VWD1
OMIM	193520	WATSON SYNDROME
OMIM	193530	WEYERS ACROFACIAL DYSOSTOSIS
OMIM	193700	ARTHROGRYPOSIS, DISTAL, TYPE 2A
OMIM	194050	WILLIAMS-BEUREN SYNDROME; WBS
OMIM	194080	DENYS-DRASH SYNDROME; DDS
OMIM	194190	WOLF-HIRSCHHORN SYNDROME; WHS
OMIM	194350	WT LIMB-BLOOD SYNDROME
OMIM	200110	ABLEPHARON-MACROSTOMIA SYNDROME
OMIM	200600	ACHONDROGENESIS, TYPE IA; ACG1A
OMIM	200610	ACHONDROGENESIS, TYPE II; ACG2
OMIM	200700	CHONDRODYSPLASIA, GREBE TYPE
OMIM	200980	ACRORENAL-MANDIBULAR SYNDROME
OMIM	201100	ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE
OMIM	201170	ACROFACIAL DYSOSTOSIS SYNDROME OF RODRIGUEZ
OMIM	201180	ACROFRONTOFACIONASAL DYSOSTOSIS 1
OMIM	201300	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II
OMIM	201475	ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF
OMIM	201710	LIPOID CONGENITAL ADRENAL HYPERPLASIA
OMIM	201750	ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS; ABS1
OMIM	201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
OMIM	202010	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASEDEFICIENCY
OMIM	202110	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY
OMIM	203500	ALKAPTONURIA
OMIM	204000	LEBER CONGENITAL AMAUROSIS, TYPE I
OMIM	204100	LEBER CONGENITAL AMAUROSIS, TYPE II
OMIM	204200	CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3
OMIM	204300	CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE
OMIM	204500	CEROID LIPOFUSCINOSIS, NEURONAL, 2
OMIM	205100	AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2
OMIM	206300	ANEMIA, NONSPHEROCYTIC HEMOLYTIC, ASSOCIATED WITH ABNORMALITY OF REDCELL MEMBRANE
OMIM	206400	ANEMIA, NONSPHEROCYTIC HEMOLYTIC, POSSIBLY DUE TO DEFECT IN PORPHYRINMETABOLISM
OMIM	206570	ANGIOMATOSIS, DIFFUSE CORTICOMENINGEAL, OF DIVRY AND VAN BOGAERT
OMIM	206920	MICROPHTHALMIA WITH LIMB ANOMALIES
OMIM	207410	ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2
OMIM	207731	APLASIA CUTIS CONGENITA WITH INTESTINAL LYMPHANGIECTASIA
OMIM	207750	APOLIPOPROTEIN C-II DEFICIENCY
OMIM	207900	ARGININOSUCCINIC ACIDURIA
OMIM	208000	ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1
OMIM	208050	ARTERIAL TORTUOSITY SYNDROME
OMIM	208080	ARTHROGRYPOSIS, DISTAL, WITH HYPOPITUITARISM, MENTAL RETARDATION,AND FACIAL ANOMALIES
OMIM	208150	FETAL AKINESIA DEFORMATION SEQUENCE; FADS
OMIM	208155	ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH WHISTLING FACE
OMIM	208400	ASPARTYLGLUCOSAMINURIA; AGU
OMIM	208530	ASPLENIA WITH CARDIOVASCULAR ANOMALIES
OMIM	208540	RENAL-HEPATIC-PANCREATIC DYSPLASIA; RHPD
OMIM	208900	ATAXIA-TELANGIECTASIA; AT
OMIM	208910	ATAXIA-TELANGIECTASIA WITH GENERALIZED SKIN PIGMENTATION AND EARLY DEATH
OMIM	208920	ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH
OMIM	209010	ATHEROSCLEROSIS, PREMATURE, WITH DEAFNESS, NEPHROPATHY, DIABETES MELLITUS,PHOTOMYOCLONUS, AND DEGENERATIVE NEUROLOGIC DISEASE
OMIM	209850	AUTISM
OMIM	209885	BARBER-SAY SYNDROME; BBRSAY
OMIM	209900	BARDET-BIEDL SYNDROME 1; BBS1
OMIM	210550	BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY
OMIM	210900	BLOOM SYNDROME
OMIM	211380	ELSAHY-WATERS SYNDROME; ESWS
OMIM	211750	C SYNDROME
OMIM	211910	CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I; GCS1
OMIM	211920	CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE II
OMIM	212065	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A
OMIM	212066	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; CDG2A
OMIM	212130	CARDIOMYOPATHY ASSOCIATED WITH MYOPATHY AND SUDDEN DEATH
OMIM	212360	PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 2; PPKCA2
OMIM	212500	CATARACT, CONGENITAL OR JUVENILECATARACT, JUVENILE, HUTTERITE TYPE, INCLUDED
OMIM	212840	CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM; CAHH
OMIM	213010	CEREBELLAR VERMIS APLASIA WITH ASSOCIATED FEATURES SUGGESTING SMITH-LEMLI-OPITZSYNDROME AND MECKEL SYNDROME
OMIM	213300	JOUBERT SYNDROME 1
OMIM	213980	CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME
OMIM	214100	PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
OMIM	214110	PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER); PBD2A
OMIM	214300	KLIPPEL-FEIL SYNDROME, AUTOSOMAL RECESSIVE
OMIM	214400	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A
OMIM	214450	GRISCELLI SYNDROME, TYPE 1
OMIM	214700	DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL; DIAR1
OMIM	214800	CHARGE SYNDROME
OMIM	214900	CHOLESTASIS-LYMPHEDEMA SYNDROME
OMIM	215140	GREENBERG DYSPLASIA; GRBGD
OMIM	215400	CHORDOMA, SUSCEPTIBILITY TO; CHDM
OMIM	215470	Boucher-Neuhauser syndrome
OMIM	215700	CITRULLINEMIA, CLASSIC
OMIM	216100	CLEFT LIP/PALATE WITH ABNORMAL THUMBS AND MICROCEPHALY
OMIM	216340	YUNIS-VARON SYNDROME
OMIM	216400	COCKAYNE SYNDROME A; CSA
OMIM	216550	COHEN SYNDROME
OMIM	216800	COLOBOMA OF MACULA AND SKELETAL ANOMALIES
OMIM	217100	CONSTRICTING BANDS, CONGENITAL
OMIM	217150	CONTRACTURES, CONGENITAL, TORTICOLLIS, AND MALIGNANT HYPERTHERMIA
OMIM	217300	CORNEA PLANA 2; CNA2
OMIM	218030	APPARENT MINERALOCORTICOID EXCESS; AME
OMIM	218040	COSTELLO SYNDROME; CSTLO
OMIM	218340	TEMTAMY SYNDROME; TEMTYS
OMIM	218350	CRANIOFACIAL DYSSYNOSTOSIS WITH SHORT STATURE
OMIM	218400	CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE; CMDR
OMIM	218649	CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG
OMIM	218800	CRIGLER-NAJJAR SYNDROME, TYPE I
OMIM	219000	FRASER SYNDROME
OMIM	219080	ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1
OMIM	219090	PITUITARY ADENOMA 4, ACTH-SECRETING; PITA4
OMIM	219150	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA
OMIM	219250	CUTIS MARMORATA TELANGIECTATICA CONGENITA
OMIM	219730	VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE; VMCKD
OMIM	219750	CYSTINOSIS, ADULT NONNEPHROPATHIC
OMIM	219800	CYSTINOSIS, NEPHROPATHIC; CTNS
OMIM	219900	CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
OMIM	220150	HYPOURICEMIA, RENAL, 1; RHUC1
OMIM	220200	DANDY-WALKER SYNDROME
OMIM	220219	DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, AND BRACHYTELEPHALANGY
OMIM	220220	DANDY-WALKER MALFORMATION WITH POSTAXIAL POLYDACTYLY
OMIM	221750	DEAFNESS, SENSORINEURAL, WITH PITUITARY DWARFISM
OMIM	221770	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY; PLOSL
OMIM	221780	DERMATOGLYPHICS--HYPOTHENAR RADIAL ARCH
OMIM	221810	DERMATOOSTEOLYSIS, KIRGHIZIAN TYPE
OMIM	221820	LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS; HDLS
OMIM	221900	PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE; PHPVAR
OMIM	222470	TRICHOHEPATOENTERIC SYNDROME 1
OMIM	222600	DIASTROPHIC DYSPLASIA
OMIM	222700	LYSINURIC PROTEIN INTOLERANCE; LPI
OMIM	222800	ERYTHROCYTOSIS, FAMILIAL, 8; ECYT8
OMIM	223360	DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL
OMIM	223540	DWARFISM, MENTAL RETARDATION, AND EYE ABNORMALITY
OMIM	223800	DYGGVE-MELCHIOR-CLAUSEN DISEASE
OMIM	223900	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III
OMIM	224120	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia; CDAN1A
OMIM	224230	DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1; DKCB1
OMIM	224300	DYSOSTEOSCLEROSIS
OMIM	224690	MEIER-GORLIN SYNDROME 1; MGORS1
OMIM	224750	SCHOPF-SCHULZ-PASSARGE SYNDROME; SSPS
OMIM	224900	ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B
OMIM	225040	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND AGENESISOF THE CORPUS CALLOSUM
OMIM	225050	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND CILIARYDYSKINESIA
OMIM	225400	EHLERS-DANLOS SYNDROME, TYPE VI
OMIM	225410	EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE
OMIM	225500	ELLIS-VAN CREVELD SYNDROME
OMIM	226730	EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA
OMIM	227210	EYEBROWS, DUPLICATION OF, WITH STRETCHABLE SKIN AND SYNDACTYLY
OMIM	227255	FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS
OMIM	227320	FACIOTHORACOGENITAL SYNDROME
OMIM	227330	FACIODIGITOGENITAL SYNDROME, AUTOSOMAL RECESSIVE
OMIM	227645	FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC
OMIM	227646	FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2
OMIM	227650	FANCONI ANEMIA
OMIM	228100	VISCERAL STEATOSIS, CONGENITAL
OMIM	228520	FIBROCHONDROGENESIS 1; FBCG1
OMIM	228930	FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY
OMIM	229200	BRITTLE CORNEA SYNDROME
OMIM	229310	FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA
OMIM	229600	FRUCTOSE INTOLERANCE, HEREDITARY
OMIM	230000	FUCOSIDOSIS
OMIM	230500	GM1-GANGLIOSIDOSIS, TYPE I
OMIM	230600	GM1-GANGLIOSIDOSIS, TYPE II
OMIM	230740	GAPO SYNDROME; GAPOS
OMIM	231005	GAUCHER DISEASE, TYPE IIIC
OMIM	231100	HEMOCHROMATOSIS, NEONATAL
OMIM	231680	MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD
OMIM	232200	GLYCOGEN STORAGE DISEASE IA
OMIM	232220	GLYCOGEN STORAGE DISEASE IB
OMIM	233600	IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA; IMD59
OMIM	234100	HALLERMANN-STREIFF SYNDROME; HSS
OMIM	234200	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1
OMIM	234700	HEART BLOCK, CONGENITAL
OMIM	234800	HEMANGIOMATOSIS, CUTANEOUS, WITH ASSOCIATED FEATURES
OMIM	235400	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1
OMIM	235510	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME
OMIM	235700	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
OMIM	236100	HOLOPROSENCEPHALY 1; HPE1
OMIM	236200	HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
OMIM	236250	HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATEREDUCTASE ACTIVITY
OMIM	236270	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLE COMPLEMENTATION TYPE
OMIM	236500	MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY; MARCH
OMIM	236670	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE
OMIM	236680	HYDROLETHALUS SYNDROME 1
OMIM	236700	MCKUSICK-KAUFMAN SYNDROME; MKKS
OMIM	237300	CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO
OMIM	237900	HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATALBREASTFEEDING JAUNDICE, INCLUDED
OMIM	238600	HYPERLIPOPROTEINEMIA, TYPE I
OMIM	238700	HYPERLYSINEMIA, TYPE I
OMIM	238710	HYPERLYSINEMIA DUE TO DEFECT IN LYSINE TRANSPORT INTO MITOCHONDRIA
OMIM	238750	HYPERLYSINURIA WITH HYPERAMMONEMIA
OMIM	238970	HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME
OMIM	239100	HYPEROSTOSIS CORTICALIS GENERALISATA
OMIM	239300	HYPERPHOSPHATASIA WITH MENTAL RETARDATION
OMIM	240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I
OMIM	241150	HYPOKALEMIC ALKALOSIS, FAMILIAL, WITH SPECIFIC RENAL TUBULOPATHY
OMIM	241200	BARTTER SYNDROME, ANTENATAL, TYPE 2
OMIM	241310	HYPOMANDIBULAR FACIOCRANIAL DYSOSTOSIS
OMIM	241500	HYPOPHOSPHATASIA, INFANTILE
OMIM	241510	HYPOPHOSPHATASIA, CHILDHOOD
OMIM	241530	HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY
OMIM	242150	ICHTHYOSIFORM ERYTHRODERMA, CORNEAL INVOLVEMENT, AND DEAFNESS
OMIM	242700	IMMUNE DEFECT DUE TO ABSENCE OF THYMUS
OMIM	242840	VICI SYNDROME; VICIS
OMIM	243060	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA
OMIM	243440	ISOTRETINOIN EMBRYOPATHY-LIKE SYNDROME
OMIM	243605	STROMME SYNDROME; STROMS
OMIM	243800	JOHANSON-BLIZZARD SYNDROME; JBS
OMIM	243910	ARIMA SYNDROME
OMIM	244400	CILIARY DYSKINESIA, PRIMARY, 1; CILD1
OMIM	245000	PAPILLON-LEFEVRE SYNDROME
OMIM	245010	HAIM-MUNK SYNDROME
OMIM	245160	KNIEST-LIKE DYSPLASIA WITH PURSED LIPS AND ECTOPIA LENTIS
OMIM	245190	KNIEST-LIKE DYSPLASIA, LETHAL
OMIM	245600	MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
OMIM	246000	LEG, ABSENCE DEFORMITY OF, WITH CONGENITAL CATARACT
OMIM	247100	LIPOID PROTEINOSIS OF URBACH AND WIETHE
OMIM	247150	LIP PRINTS
OMIM	247990	MACDERMOT-WINTER SYNDROME
OMIM	248190	HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT; HOMG5
OMIM	248340	3MC SYNDROME 3
OMIM	248370	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA
OMIM	248390	TREACHER COLLINS SYNDROME 3; TCS3
OMIM	248400	MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL RETARDATION
OMIM	248510	MANNOSIDOSIS, BETA A, LYSOSOMAL
OMIM	249000	MECKEL SYNDROME, TYPE 1; MKS1
OMIM	249100	FAMILIAL MEDITERRANEAN FEVER; FMF
OMIM	249310	MEGALOCORNEA-MENTAL RETARDATION SYNDROME
OMIM	249420	FRANK-TER HAAR SYNDROME; FTHS
OMIM	250220	SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE; SMDS
OMIM	250230	METAPHYSEAL CHONDRODYSPLASIA, KAITILA TYPE
OMIM	250400	METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE
OMIM	250420	METAPHYSEAL DYSOSTOSIS, MENTAL RETARDATION, AND CONDUCTIVE DEAFNESS
OMIM	250450	METAPHYSEAL DYSPLASIA, ANETODERMA, AND OPTIC ATROPHY
OMIM	250700	METHEMOGLOBIN REDUCTASE DEFICIENCY
OMIM	250940	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE
OMIM	251000	METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY
OMIM	251100	METHYLMALONIC ACIDURIA, CBLA TYPE
OMIM	251110	METHYLMALONIC ACIDURIA, CBLB TYPE
OMIM	251260	NIJMEGEN BREAKAGE SYNDROME
OMIM	251505	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 4
OMIM	251880	MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
OMIM	252150	MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A; MOCODA
OMIM	252160	MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B; MOCODB
OMIM	252500	MUCOLIPIDOSIS II ALPHA/BETA
OMIM	252600	MUCOLIPIDOSIS III ALPHA/BETA
OMIM	252900	MUCOPOLYSACCHARIDOSIS TYPE IIIA
OMIM	252920	MUCOPOLYSACCHARIDOSIS TYPE IIIB
OMIM	252930	MUCOPOLYSACCHARIDOSIS TYPE IIIC
OMIM	252940	MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D
OMIM	253000	MORQUIO SYNDROME A
OMIM	253010	MUCOPOLYSACCHARIDOSIS TYPE IVB
OMIM	253220	MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7
OMIM	253250	MULIBREY NANISM
OMIM	253290	MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE; LMPS
OMIM	253310	LETHAL CONGENITAL CONTRACTURE SYNDROME 1; LCCS1
OMIM	253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4
OMIM	255800	SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1
OMIM	256000	LEIGH SYNDROME; LS
OMIM	256100	NEPHRONOPHTHISIS 1
OMIM	256520	NEU-LAXOVA SYNDROME; NLS
OMIM	256710	ELEJALDE DISEASE
OMIM	256730	CEROID LIPOFUSCINOSIS, NEURONAL, 1
OMIM	256731	CEROID LIPOFUSCINOSIS, NEURONAL, 5; CLN5
OMIM	256810	NAVAJO NEUROHEPATOPATHY
OMIM	257200	NIEMANN-PICK DISEASE, TYPE A
OMIM	257220	NIEMANN-PICK DISEASE, TYPE C1; NPC1
OMIM	257800	OCULOCEREBRAL SYNDROME WITH HYPOPIGMENTATION
OMIM	257850	OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE
OMIM	257910	OCULOPALATOCEREBRAL SYNDROME
OMIM	258040	OEIS COMPLEX
OMIM	258315	OMODYSPLASIA 1; OMOD1
OMIM	258480	OPSISMODYSPLASIA; OPSMD
OMIM	258500	OPTIC ATROPHY 6; OPA6
OMIM	258840	ORAL AND DIGITAL ANOMALIES WITH ICHTHYOSIS
OMIM	259050	PRIMROSE SYNDROME; PRIMS
OMIM	259440	Osteogenesis imperfecta, type IX
OMIM	259600	MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA
OMIM	259610	OSTEOLYSIS SYNDROME, RECESSIVE
OMIM	259710	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2
OMIM	259720	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5
OMIM	259730	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3
OMIM	259770	OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
OMIM	260370	PANCREATIC AGENESIS, CONGENITAL; PAGEN
OMIM	260400	SHWACHMAN-DIAMOND SYNDROME 1; SDS1
OMIM	260900	PERICARDIAL EFFUSION, CHRONIC
OMIM	261500	EOSINOPHIL PEROXIDASE DEFICIENCY; EPXD
OMIM	261515	D-BIFUNCTIONAL PROTEIN DEFICIENCY
OMIM	261540	PETERS-PLUS SYNDROME; PTRPLS
OMIM	261550	PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II
OMIM	261650	PHOSPHOENOLPYRUVATE CARBOXYKINASE 2, MITOCHONDRIAL
OMIM	261680	PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC; PCKDC
OMIM	262190	PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES
OMIM	262400	Growth hormone deficiency, isolated, type IA
OMIM	262650	PITUITARY DWARFISM IV
OMIM	262700	PITUITARY DWARFISM WITH SMALL SELLA TURCICA
OMIM	262710	PITUITARY DWARFISM WITH LARGE SELLA TURCICA
OMIM	263200	POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD4
OMIM	263210	POLYCYSTIC KIDNEY DISEASE, POTTER TYPE I, WITH MICROBRACHYCEPHALY,HYPERTELORISM, AND BRACHYMELIA
OMIM	263300	POLYCYTHEMIA VERA
OMIM	263400	ERYTHROCYTOSIS, FAMILIAL, 2; ECYT2
OMIM	263650	BARTSOCAS-PAPAS SYNDROME; BPS
OMIM	263800	GITELMAN SYNDROME
OMIM	264090	WIEDEMANN-RAUTENSTRAUCH SYNDROME; WDRTS
OMIM	264350	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE; PHA1B
OMIM	264475	PSEUDOPAPILLEDEMA, OCULAR HYPOTELORISM, BLEPHAROPHIMOSIS, AND HANDANOMALIES
OMIM	264700	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A
OMIM	265000	MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS
OMIM	265300	LYMPHANGIECTASIA, PULMONARY, CONGENITAL; CPL
OMIM	265380	ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS; ACDMPV
OMIM	266100	EPILEPSY, PYRIDOXINE-DEPENDENT
OMIM	266130	GLUTATHIONE SYNTHETASE DEFICIENCY
OMIM	266150	PYRUVATE CARBOXYLASE DEFICIENCY
OMIM	266200	PYRUVATE KINASE DEFICIENCY OF RED CELLS
OMIM	266265	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C
OMIM	266270	RAMON SYNDROME
OMIM	266280	RAPADILINO SYNDROME
OMIM	267010	MECKEL SYNDROME, TYPE 7; MKS7
OMIM	267430	RENAL TUBULAR DYSGENESIS; RTD
OMIM	267750	KNOBLOCH SYNDROME 1; KNO1
OMIM	267760	RETINAL DEGENERATION WITH NANOPHTHALMOS, CYSTIC MACULAR DEGENERATION,AND ANGLE CLOSURE GLAUCOMA
OMIM	268130	REVESZ SYNDROME
OMIM	268300	ROBERTS SYNDROME; RBS
OMIM	268310	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS
OMIM	268650	RUDIGER SYNDROME
OMIM	269150	SCHINZEL-GIEDION MIDFACE-RETRACTION SYNDROME
OMIM	269200	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE II
OMIM	269250	SCHNECKENBECKEN DYSPLASIA
OMIM	269500	SCLEROSTEOSIS 1; SOST1
OMIM	269600	SEA-BLUE HISTIOCYTE DISEASE
OMIM	269700	Lipodystrophy, congenital generalized, type 2
OMIM	269860	SHORT-RIB THORACIC DYSPLASIA 12; SRTD12
OMIM	269880	SHORT SYNDROME
OMIM	270400	SMITH-LEMLI-OPITZ SYNDROME; SLOS
OMIM	270450	INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO; IGF1RES
OMIM	270460	SONODA SYNDROME
OMIM	270700	SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE; SPG15
OMIM	271520	SPONDYLOCOSTAL DYSOSTOSIS WITH ANAL ATRESIA AND UROGENITAL ANOMALIES
OMIM	271640	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES; SEMDJL1
OMIM	271650	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, IRAPA TYPE
OMIM	271665	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
OMIM	271700	SPONDYLOPERIPHERAL DYSPLASIA
OMIM	271960	SUBAORTIC STENOSIS--SHORT STATURE SYNDROME
OMIM	272460	SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME; SCT
OMIM	273050	TEETH, NONERUPTION OF, WITH MAXILLARY HYPOPLASIA AND GENU VALGUM
OMIM	273250	TESTICULAR REGRESSION SYNDROME
OMIM	273390	TETRA-AMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT ABNORMALITIES
OMIM	273395	TETRAAMELIA, AUTOSOMAL RECESSIVE
OMIM	273800	Glanzmann thrombasthenia
OMIM	274150	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL; TTP
OMIM	274190	THUMB AGENESIS, SHORT STATURE, AND IMMUNODEFICIENCY
OMIM	275210	RESTRICTIVE DERMOPATHY, LETHAL
OMIM	275350	TRANSCOBALAMIN II DEFICIENCY
OMIM	275595	TRIGONOBRACHYCEPHALY, BULBOUS BIFID NOSE, MICROGNATHIA, AND ABNORMALITIESOF THE HANDS AND FEET
OMIM	276300	MISMATCH REPAIR CANCER SYNDROME; MMRCS
OMIM	276820	ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY
OMIM	276904	USHER SYNDROME, TYPE IC
OMIM	277380	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE
OMIM	277400	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE; MAHCC
OMIM	277410	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE
OMIM	277440	VITAMIN D-DEPENDENT RICKETS, TYPE 2A
OMIM	277590	WEAVER SYNDROME
OMIM	277600	WEILL-MARCHESANI SYNDROME 1; WMS1
OMIM	277720	WHISTLING FACE SYNDROME, RECESSIVE FORM
OMIM	278250	WRINKLY SKIN SYNDROME; WSS
OMIM	278300	XANTHINURIA, TYPE I
OMIM	278760	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF
OMIM	300076	IMMUNONEUROLOGIC DISORDER, X-LINKED
OMIM	300106	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED
OMIM	300125	MIGRAINE, FAMILIAL TYPICAL, SUSCEPTIBILITY TO, 2
OMIM	300166	MICROPHTHALMIA, SYNDROMIC 2; MCOPS2
OMIM	300209	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2
OMIM	300216	Coats disease
OMIM	300245	PTOSIS, HEREDITARY CONGENITAL 2
OMIM	300257	DANON DISEASE
OMIM	300266	SPASTIC PARAPLEGIA 16, X-LINKED
OMIM	300273	GOITER, MULTINODULAR 2
OMIM	300280	URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU
OMIM	300322	LESCH-NYHAN SYNDROME; LNS
OMIM	300323	GOUT, HPRT-RELATED
OMIM	300337	HYPOMELANOSIS OF ITO; HMI
OMIM	300354	MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE; MRXSC
OMIM	300367	THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA;XLTDA
OMIM	300428	MENTAL RETARDATION, X-LINKED 2
OMIM	300431	ATKIN-FLAITZ SYNDROME
OMIM	300489	SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3
OMIM	300494	ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1; ASPGX1
OMIM	300497	ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2; ASPGX2
OMIM	300500	ALBINISM, OCULAR, TYPE I
OMIM	300523	ALLAN-HERNDON-DUDLEY SYNDROME
OMIM	300534	MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ
OMIM	300589	NYSTAGMUS 5, CONGENITAL, X-LINKED; NYS5
OMIM	300602	CLARK-BARAITSER SYNDROME
OMIM	300614	DEAFNESS, X-LINKED 5; DFNX5
OMIM	300622	TN POLYAGGLUTINATION SYNDROME; TNPS
OMIM	300624	FRAGILE X MENTAL RETARDATION SYNDROME
OMIM	300650	ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS
OMIM	300661	PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY
OMIM	300755	AGAMMAGLOBULINEMIA, X-LINKED; XLA
OMIM	300758	HYPOSPADIAS 2, X-LINKED; HYSP2
OMIM	300814	NYSTAGMUS 6, CONGENITAL, X-LINKED; NYS6
OMIM	300835	ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES;XLANP
OMIM	300845	MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM,AND FACIAL DYSMORPHISM; MYMY4
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	300894	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5
OMIM	300896	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm; CDG2M
OMIM	300952	LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3
OMIM	300971	BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT
OMIM	301000	WISKOTT-ALDRICH SYNDROME; WAS
OMIM	301050	ALPORT SYNDROME, X-LINKED; ATS
OMIM	301500	Fabry disease
OMIM	302060	BARTH SYNDROME; BTHS
OMIM	302350	NANCE-HORAN SYNDROME
OMIM	302800	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1; CMTX1
OMIM	302900	CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA,COMBINED
OMIM	302950	CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE
OMIM	303600	COFFIN-LOWRY SYNDROME; CLS
OMIM	304050	AICARDI SYNDROME; AIC
OMIM	304110	CRANIOFRONTONASAL SYNDROME; CFNS
OMIM	304120	OTOPALATODIGITAL SYNDROME, TYPE II; OPD2
OMIM	304150	OCCIPITAL HORN SYNDROME; OHS
OMIM	304400	DEAFNESS, X-LINKED 2
OMIM	304800	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
OMIM	304900	DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE
OMIM	305000	DYSKERATOSIS CONGENITA, X-LINKED; DKCX
OMIM	305100	ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; XHED
OMIM	305390	EXUDATIVE VITREORETINOPATHY 2, X-LINKED; EVR2
OMIM	305400	Aarskog-Scott syndrome
OMIM	305600	FOCAL DERMAL HYPOPLASIA; FDH
OMIM	305700	SERTOLI CELL-ONLY SYNDROME
OMIM	305800	MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS, X-LINKED
OMIM	306955	HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1
OMIM	307200	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III; IGHD3
OMIM	308050	CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
OMIM	308280	IMPACTED TEETH, MULTIPLE
OMIM	308500	IRIS HYPOPLASIA WITH GLAUCOMA; IHG
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	308905	LEBER OPTIC ATROPHY, SUSCEPTIBILITY TO
OMIM	308940	LEIOMYOMATOSIS, DIFFUSE, WITH ALPORT SYNDROME; DL-ATS
OMIM	309000	LOWE OCULOCEREBRORENAL SYNDROME
OMIM	309300	MEGALOCORNEA
OMIM	309350	MELNICK-NEEDLES SYNDROME
OMIM	309500	RENPENNING SYNDROME 1; RENS1
OMIM	309541	METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE
OMIM	309545	MENTAL RETARDATION, X-LINKED, SYNDROMIC 12; MRXS12
OMIM	309580	MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1
OMIM	309800	MICROPHTHALMIA, SYNDROMIC 1
OMIM	309900	MUCOPOLYSACCHARIDOSIS, TYPE II
OMIM	310300	EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1
OMIM	310600	NORRIE DISEASE; ND
OMIM	311200	OROFACIODIGITAL SYNDROME I; OFD1
OMIM	311250	ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO
OMIM	311300	OTOPALATODIGITAL SYNDROME, TYPE I; OPD1
OMIM	311450	PALLISTER W SYNDROME
OMIM	311900	TARP SYNDROME; TARPS
OMIM	312000	PANHYPOPITUITARISM, X-LINKED
OMIM	312080	PELIZAEUS-MERZBACHER DISEASE
OMIM	312150	MULTIPLE PTERYGIUM SYNDROME, X-LINKED
OMIM	312170	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD
OMIM	312550	RETINAL DYSPLASIA, PRIMARY
OMIM	312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
OMIM	313850	THORACOABDOMINAL SYNDROME
OMIM	313900	THROMBOCYTOPENIA 1
OMIM	314320	TRIGONOCEPHALY WITH SHORT STATURE AND DEVELOPMENTAL DELAY
OMIM	314390	VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX
OMIM	314600	WILDERVANCK SYNDROME
OMIM	400003	DELETED IN AZOOSPERMIA
OMIM	400043	DEAFNESS, Y-LINKED 1
OMIM	400045	46,XX SEX REVERSAL 1; SRXX1
OMIM	400047	DEAFNESS, Y-LINKED 2; DFNY2
OMIM	415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
OMIM	424500	GONADOBLASTOMA
OMIM	475000	GROWTH CONTROL, Y-CHROMOSOME INFLUENCED
OMIM	500001	LEBER OPTIC ATROPHY AND DYSTONIA
OMIM	530000	KEARNS-SAYRE SYNDROME; KSS
OMIM	535000	LEBER OPTIC ATROPHY
OMIM	600081	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B
OMIM	600089	PANCREATIC BETA CELL AGENESIS WITH NEONATAL DIABETES MELLITUS
OMIM	600096	PUERTO RICAN INFANT HYPOTONIA SYNDROME
OMIM	600118	WARBURG MICRO SYNDROME 1
OMIM	600142	CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY; CARASIL
OMIM	600143	CEROID LIPOFUSCINOSIS, NEURONAL, 8
OMIM	600224	SPINOCEREBELLAR ATAXIA 5; SCA5
OMIM	600257	BOR-DUANE HYDROCEPHALUS CONTIGUOUS GENE SYNDROME
OMIM	600268	OCULOECTODERMAL SYNDROME; OES
OMIM	600274	FRONTOTEMPORAL DEMENTIA; FTD
OMIM	600302	FRYNS MACROCEPHALY
OMIM	600376	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2; HHT2
OMIM	600383	MESOMELIA-SYNOSTOSES SYNDROME
OMIM	600384	APHALANGIA, PARTIAL, WITH SYNDACTYLY AND DUPLICATION OF METATARSALIV
OMIM	600419	ANGIOKERATOMA CORPORIS DIFFUSUM WITH ARTERIOVENOUS FISTULAS
OMIM	600638	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULARINVOLVEMENT; CFEOM3A
OMIM	600649	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
OMIM	600679	DERMOID CYSTS, FAMILIAL FRONTONASAL
OMIM	600790	CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL
OMIM	600791	ENLARGED VESTIBULAR AQUEDUCT
OMIM	600795	FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED; FTD3
OMIM	600858	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6; CMH6
OMIM	600882	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B; CMT2B
OMIM	600901	FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE
OMIM	600903	WISKOTT-ALDRICH SYNDROME, AUTOSOMAL DOMINANT FORM
OMIM	600920	VAN DEN ENDE-GUPTA SYNDROME; VDEGS
OMIM	600969	EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; EDM3
OMIM	601027	TIBIA, ABSENCE OR HYPOPLASIA OF, WITH POLYDACTYLY, RETROCEREBELLAR ARACHNOID CYST, AND OTHER ANOMALIES
OMIM	601068	EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1; FAME1
OMIM	601104	SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1
OMIM	601163	DIAPHRAGMATIC DEFECTS, LIMB DEFICIENCIES, AND OSSIFICATION DEFECTS OF SKULL
OMIM	601186	MICROPHTHALMIA, SYNDROMIC 9; MCOPS9
OMIM	601202	CATARACT, ANTERIOR POLAR, 2
OMIM	601321	NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS
OMIM	601353	BRACHYCEPHALY, DEAFNESS, CATARACT, MICROSTOMIA, AND MENTAL RETARDATION
OMIM	601376	CHONDRODYSPLASIA, LETHAL, WITH LONG BONE ANGULATION AND MIXED BONE DENSITY
OMIM	601389	CERVICAL RIBS, SPRENGEL ANOMALY, ANAL ATRESIA, AND URETHRAL OBSTRUCTION
OMIM	601419	MYOPATHY, MYOFIBRILLAR, 1; MFM1
OMIM	601449	DEAFNESS, PROGRESSIVE, WITH STAPES FIXATION
OMIM	601453	TRICHODENTAL DYSPLASIA
OMIM	601457	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE
OMIM	601492	MUCOPOLYSACCHARIDOSIS TYPE IX
OMIM	601549	ALACRIMA
OMIM	601552	FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS; FDLAB
OMIM	601559	STUVE-WIEDEMANN SYNDROME
OMIM	601596	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; CMT4C
OMIM	601631	ANTERIOR SEGMENT DYSGENESIS 3
OMIM	601650	PARAGANGLIOMAS 2
OMIM	601678	BARTTER SYNDROME, TYPE 1, ANTENATAL
OMIM	601701	ARTHROGRYPOSIS AND ECTODERMAL DYSPLASIA
OMIM	601707	CURRY-JONES SYNDROME
OMIM	601780	CEROID LIPOFUSCINOSIS, NEURONAL, 6
OMIM	601803	PALLISTER-KILLIAN SYNDROME
OMIM	601809	SPONDYLOSPINAL THORACIC DYSOSTOSIS
OMIM	601813	EXUDATIVE VITREORETINOPATHY 4
OMIM	601957	ODONTOTRICHOUNGUAL-DIGITAL-PALMAR SYNDROME
OMIM	601992	FRIEDREICH ATAXIA 2; FRDA2
OMIM	602078	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2; CFEOM2
OMIM	602114	NEPHROPATHY, PROGRESSIVE TUBULOINTERSTITIAL, WITH CHOLESTATIC LIVERDISEASE
OMIM	602196	PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES
OMIM	602248	MALIGNANT ATROPHIC PAPULOSIS
OMIM	602342	Pierpont syndrome
OMIM	602433	AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE; ALS4
OMIM	602475	OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE; OPLL
OMIM	602481	MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2
OMIM	602522	BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS
OMIM	602531	GRANGE SYNDROME; GRNG
OMIM	602579	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B
OMIM	602629	DYSTONIA 6, TORSION
OMIM	602849	Muenke syndrome
OMIM	602875	ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDMST. HELENA DYSPLASIA, INCLUDED
OMIM	603147	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic; CDG1C
OMIM	603165	DERMATITIS, ATOPIC
OMIM	603285	CEREBRAL CAVERNOUS MALFORMATIONS 3; CCM3
OMIM	603543	LIMB-MAMMARY SYNDROME; LMS
OMIM	603671	ACROMELIC FRONTONASAL DYSOSTOSIS; AFND
OMIM	603860	MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2
OMIM	604121	CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT; ADCADN
OMIM	604278	RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTALRETARDATION
OMIM	604292	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; EEC3
OMIM	604314	BLEPHAROPHIMOSIS WITH FACIAL AND GENITAL ANOMALIES AND MENTAL RETARDATION
OMIM	604320	SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1; DSMA1
OMIM	604326	SPINOCEREBELLAR ATAXIA 12
OMIM	604387	NEPHRONOPHTHISIS 3; NPHP3
OMIM	604416	PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE
OMIM	604563	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2; CMT4B2
OMIM	605282	Temtamy preaxial brachydactyly syndrome
OMIM	605289	SPLIT-HAND/FOOT MALFORMATION 4; SHFM4
OMIM	605321	FRONTOOCULAR SYNDROME
OMIM	605361	SPINOCEREBELLAR ATAXIA 14
OMIM	605373	PARAGANGLIOMAS 3
OMIM	605419	SCHIZOPHRENIA 10
OMIM	605432	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA
OMIM	605627	CEREBROOCULONASAL SYNDROME
OMIM	605750	EXUDATIVE VITREORETINOPATHY 3; EVR3
OMIM	605899	GLYCINE ENCEPHALOPATHY; GCE
OMIM	606054	PROPIONIC ACIDEMIA
OMIM	606156	SENER SYNDROME
OMIM	606164	DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15
OMIM	606232	PHELAN-MCDERMID SYNDROME; PHMDS
OMIM	606242	MENTAL RETARDATION, MICROCEPHALY, GROWTH RETARDATION, JOINT CONTRACTURES,AND FACIAL DYSMORPHISM
OMIM	606324	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
OMIM	606353	PRIMARY LATERAL SCLEROSIS, JUVENILE; PLSJ
OMIM	606482	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B; CMTDIB
OMIM	606552	EPISODIC ATAXIA, TYPE 4
OMIM	606595	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F; CMT2F
OMIM	606693	KUFOR-RAKEB SYNDROME
OMIM	606703	DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA; FDFM
OMIM	606764	GASTROINTESTINAL STROMAL TUMOR; GIST
OMIM	606772	MENTAL RETARDATION, OBESITY, MANDIBULAR PROGNATHISM, AND EYE AND SKINANOMALIES
OMIM	606812	FUMARASE DEFICIENCY; FMRD
OMIM	606824	GLUCOSE/GALACTOSE MALABSORPTION; GGM
OMIM	606835	DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL; FDAB
OMIM	606895	SYMPHALANGISM, DISTAL, WITH MICRODONTIA, DENTAL PULP STONES, AND NARROWEDZYGOMATIC ARCH
OMIM	606966	NEPHRONOPHTHISIS 4
OMIM	606995	SENIOR-LOKEN SYNDROME 3
OMIM	606996	SENIOR-LOKEN SYNDROME 4; SLSN4
OMIM	607136	SPINOCEREBELLAR ATAXIA 17; SCA17
OMIM	607323	DUANE-RADIAL RAY SYNDROME; DRRS
OMIM	607330	LATHOSTEROLOSIS
OMIM	607364	BARTTER SYNDROME, TYPE 3
OMIM	607373	AUTISM, SUSCEPTIBILITY TO, 8; AUTS8
OMIM	607485	FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
OMIM	607498	MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 3
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	607554	ATRIAL FIBRILLATION, FAMILIAL, 3; ATFB3
OMIM	607616	NIEMANN-PICK DISEASE, TYPE B
OMIM	607624	GRISCELLI SYNDROME, TYPE 2; GS2
OMIM	607625	NIEMANN-PICK DISEASE, TYPE C2
OMIM	607636	VAN BUCHEM DISEASE, TYPE 2
OMIM	607684	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E; CMT2E
OMIM	607778	ACROCAPITOFEMORAL DYSPLASIA; ACFD
OMIM	607872	CHROMOSOME 1P36 DELETION SYNDROME
OMIM	607876	EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2
OMIM	607932	MICROPHTHALMIA, SYNDROMIC 6; MCOPS6
OMIM	608028	THAI SYMPHALANGISM SYNDROME
OMIM	608049	AUTISM, SUSCEPTIBILITY TO, 3; AUTS3
OMIM	608091	JOUBERT SYNDROME 2
OMIM	608106	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5; HIGM5
OMIM	608180	SYNPOLYDACTYLY 2
OMIM	608328	WEILL-MARCHESANI SYNDROME 2; WMS2
OMIM	608340	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A; CMTRIA
OMIM	608406	VATER-LIKE DEFECTS WITH PULMONARY HYPERTENSION, LARYNGEAL WEBS, AND GROWTH DEFICIENCY
OMIM	608471	CORNEAL DYSTROPHY, LATTICE TYPE IIIA; CDL3A
OMIM	608540	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K
OMIM	608553	LEBER CONGENITAL AMAUROSIS 9; LCA9
OMIM	608572	BURN-MCKEOWN SYNDROME
OMIM	608583	ATRIAL FIBRILLATION, FAMILIAL, 1; ATFB1
OMIM	608594	Lipodystrophy, congenital generalized, type 1
OMIM	608600	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 1
OMIM	608612	MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB
OMIM	608631	ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2; ASPG2
OMIM	608636	CHROMOSOME 15q11-q13 DUPLICATION SYNDROME
OMIM	608638	ASPERGER SYNDROME, SUSCEPTIBILITY TO, 1; ASPG1
OMIM	608643	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
OMIM	608688	AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY
OMIM	608703	SPINOCEREBELLAR ATAXIA 25; SCA25
OMIM	608709	LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO; APLD
OMIM	608720	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, ADULT-ONSET, WITH ANOSMIA
OMIM	608728	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED
OMIM	608758	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10; CMH10
OMIM	608763	EHLERS-DANLOS SYNDROME, BEASLEY-COHEN TYPE
OMIM	608804	LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2
OMIM	608836	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
OMIM	608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3
OMIM	608940	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY; SMDCRD
OMIM	609015	MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD
OMIM	609039	NARCOLEPSY 3; NRCLP3
OMIM	609048	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
OMIM	609052	SPONDYLOMETAPHYSEAL DYSPLASIA, TYPE A4
OMIM	609128	ARTHROGRYPOSIS, DISTAL, TYPE 4; DA4
OMIM	609129	AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1
OMIM	609218	FOVEAL HYPOPLASIA 2; FVH2
OMIM	609227	GRISCELLI SYNDROME, TYPE 3; GS3
OMIM	609242	KANZAKI DISEASE
OMIM	609306	SPINOCEREBELLAR ATAXIA 26
OMIM	609384	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B
OMIM	609428	TUKEL SYNDROME
OMIM	609454	SUPRANUCLEAR PALSY, PROGRESSIVE, 2; PSNP2
OMIM	609524	FILAMINOPATHY, AUTOSOMAL DOMINANT
OMIM	609536	COMPLEMENT COMPONENT 5 DEFICIENCY; C5D
OMIM	609616	SPONDYLOMEGAEPIPHYSEAL DYSPLASIA WITH UPPER LIMB MESOMELIA, PUNCTATECALCIFICATIONS, AND DEAFNESS
OMIM	609625	CHROMOSOME 10Q26 DELETION SYNDROME
OMIM	609638	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA
OMIM	609727	SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT
OMIM	609820	ERYTHROCYTOSIS, FAMILIAL, 3
OMIM	609944	ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVE FACIAL FEATURES
OMIM	610003	CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT
OMIM	610031	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7
OMIM	610090	PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY
OMIM	610127	CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10
OMIM	610168	LOEYS-DIETZ SYNDROME 2; LDS2
OMIM	610188	JOUBERT SYNDROME 5
OMIM	610208	MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 10
OMIM	610209	MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 11
OMIM	610251	ALCOHOL SENSITIVITY, ACUTE
OMIM	610253	KLEEFSTRA SYNDROME
OMIM	610443	KOOLEN-DE VRIES SYNDROME; KDVS
OMIM	610475	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2
OMIM	610489	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1
OMIM	610504	PRETERM PREMATURE RUPTURE OF THE MEMBRANES; PPROM
OMIM	610543	CHROMOSOME 16p13.3 DELETION SYNDROME
OMIM	610655	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 4; HHT4
OMIM	610708	OPTIC ATROPHY 5; OPA5
OMIM	610733	NOONAN SYNDROME 4; NS4
OMIM	610753	ALOPECIA AREATA 2; AA2
OMIM	610828	HOLOPROSENCEPHALY 7
OMIM	610829	HOLOPROSENCEPHALY 9; HPE9
OMIM	610954	PITT-HOPKINS SYNDROME
OMIM	611131	RETINITIS PIGMENTOSA 37; RP37
OMIM	611182	Congenital disorder of glycosylation, type IIh
OMIM	611377	BRACHYDACTYLY, TYPE B2
OMIM	611431	LEGIUS SYNDROME
OMIM	611719	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5; COXPD5
OMIM	611773	ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS
OMIM	611783	ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4
OMIM	611881	GLYCOGEN STORAGE DISEASE XII; GSD12
OMIM	611926	IMMUNODEFICIENCY, OVARIAN DYSGENESIS, AND PULMONARY FIBROSIS
OMIM	611962	HUNTER-MACDONALD SYNDROME
OMIM	612089	HYPOPHOSPHATEMIC RICKETS AND HYPERPARATHYROIDISM
OMIM	612164	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4
OMIM	612284	MECKEL SYNDROME, TYPE 6; MKS6
OMIM	612310	PREMATURE OVARIAN FAILURE 6; POF6
OMIM	612336	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL
OMIM	612350	SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE
OMIM	612359	COWDEN-LIKE SYNDROME
OMIM	612416	FACTOR XI DEFICIENCY
OMIM	612582	CHROMOSOME 6PTER-P24 DELETION SYNDROME
OMIM	612726	HARDIKAR SYNDROME
OMIM	612740	PORPHYRIA, ACUTE HEPATIC
OMIM	612780	SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE
OMIM	612840	LEUKOCYTE ADHESION DEFICIENCY, TYPE III
OMIM	612843	KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT; KFSD
OMIM	612936	SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50
OMIM	612951	LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY
OMIM	612961	MULTIPLE SYNOSTOSES SYNDROME 3; SYNS3
OMIM	612964	PREMATURE OVARIAN FAILURE 7
OMIM	612965	46,XY SEX REVERSAL 3
OMIM	613001	ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; ECCL
OMIM	613070	LIVER FAILURE, INFANTILE, TRANSIENT
OMIM	613090	BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS
OMIM	613115	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB; HSAN2B
OMIM	613148	INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28
OMIM	613159	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1
OMIM	613217	DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL; DIAR5
OMIM	613310	EXUDATIVE VITREORETINOPATHY 5; EVR5
OMIM	613327	LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4
OMIM	613370	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10
OMIM	613406	WITTEVEEN-KOLK SYNDROME
OMIM	613428	RETINITIS PIGMENTOSA 54; RP54
OMIM	613451	FRONTONASAL DYSPLASIA 2; FND2
OMIM	613470	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASEDEFICIENCY
OMIM	613471	REYNOLDS SYNDROME
OMIM	613550	NEPHRONOPHTHISIS 11; NPHP11
OMIM	613573	ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
OMIM	613608	EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3; FAME3
OMIM	613627	BRACHYDACTYLY, TYPE A1, WITH SHORT STATURE, SCOLIOSIS, MICROCEPHALY,PTOSIS, HEARING LOSS, AND MENTAL RETARDATION
OMIM	613630	COCOON SYNDROME
OMIM	613640	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC; HSAN1C
OMIM	613652	C1q DEFICIENCY; C1QD
OMIM	613675	CHROMOSOME 17Q11.2 DELETION SYNDROME, 1.4-MB
OMIM	613706	NOONAN SYNDROME 7; NS7
OMIM	613707	LEOPARD SYNDROME 3; LPRD3
OMIM	613708	NEUROPATHY, HEREDITARY SENSORY, TYPE ID; HSN1D
OMIM	613744	SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE; SPG51
OMIM	613763	CATARACT, POSTERIOR POLAR, 2; CTPP2CATARACT, CONGENITAL LAMELLAR, INCLUDED
OMIM	613779	COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE; C3D
OMIM	613795	LOEYS-DIETZ SYNDROME 3; LDS3
OMIM	613803	MEIER-GORLIN SYNDROME 3; MGORS3
OMIM	613838	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16; CMH16
OMIM	613854	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6; CHTD6
OMIM	613873	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17; CMH17
OMIM	613875	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 19; CMH19
OMIM	613908	SPINOCEREBELLAR ATAXIA 35; SCA35
OMIM	613913	LIPODYSTROPHY, PARTIAL, ACQUIRED, WITH LOW COMPLEMENT COMPONENT C3, WITH OR WITHOUT GLOMERULONEPHRITIS; APLDC3
OMIM	613944	IgA NEPHROPATHY, SUSCEPTIBILITY TO, 2; IGAN2
OMIM	614008	NESTOR-GUILLERMO PROGERIA SYNDROME; NGPS
OMIM	614025	HEPATIC LIPASE DEFICIENCY
OMIM	614065	MYOPATHY, DISTAL, 4; MPD4
OMIM	614099	CRANIOECTODERMAL DYSPLASIA 3
OMIM	614104	MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
OMIM	614170	BRITTLE CORNEA SYNDROME 2; BCS2
OMIM	614209	MECKEL SYNDROME, TYPE 9; MKS9
OMIM	614222	WARBURG MICRO SYNDROME 3; WARBM3
OMIM	614250	NARCOLEPSY 7; NRCLP7
OMIM	614300	HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
OMIM	614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1
OMIM	614381	LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
OMIM	614407	MICROCEPHALY, CEREBELLAR HYPOPLASIA, AND CARDIAC CONDUCTION DEFECT SYNDROME; MCHCCD
OMIM	614436	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P; CMT2P
OMIM	614473	ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2; GACI2
OMIM	614527	CHROMOSOME 17q12 DELETION SYNDROME
OMIM	614557	EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2; EDSKSCL2
OMIM	614575	CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME; CANVAS
OMIM	614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L
OMIM	614684	HYPERTELORISM AND OTHER FACIAL DYSMORPHISM, BRACHYDACTYLY, GENITAL ABNORMALITIES, MENTAL RETARDATION, AND RECURRENT INFLAMMATORY EPISODES
OMIM	614727	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK
OMIM	614741	MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY
OMIM	614819	WEILL-MARCHESANI SYNDROME 3
OMIM	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE
OMIM	614863	PEROXISOME BIOGENESIS DISORDER 4B; PBD4B
OMIM	614866	PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
OMIM	614886	PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)
OMIM	614887	PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
OMIM	614924	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; COXPD12
OMIM	614940	ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT; ECTD11A
OMIM	614941	ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD11B
OMIM	614944	DEAFNESS, AUTOSOMAL RECESSIVE 84B; DFNB84B
OMIM	614970	JOUBERT SYNDROME 20; JBTS20
OMIM	615074	MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18
OMIM	615106	COWDEN SYNDROME 3; CWS3
OMIM	615107	COWDEN SYNDROME 4; CWS4
OMIM	615127	EPILEPSY, FAMILIAL ADULT MYOCLONIC, 4; FAME4
OMIM	615222	SMITH-MCCORT DYSPLASIA 2; SMC2
OMIM	615224	ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2; FASPS2
OMIM	615285	NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE; SCN5
OMIM	615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13
OMIM	615373	LEFT VENTRICULAR NONCOMPACTION 8; LVNC8
OMIM	615419	HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1
OMIM	615530	PARKINSON DISEASE 20, EARLY-ONSET; PARK20
OMIM	615560	OTOFACIOCERVICAL SYNDROME 2
OMIM	615704	POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS; POIKTMP
OMIM	615721	RENAL HYPODYSPLASIA/APLASIA 2; RHDA2
OMIM	615745	ATRIAL STANDSTILL 2; ATRST2
OMIM	615751	CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
OMIM	615816	IMMUNODEFICIENCY 23; IMD23
OMIM	615824	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7
OMIM	615828	MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; MRD24
OMIM	615830	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4
OMIM	615911	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2; FTDALS2
OMIM	615947	HYPERLIPOPROTEINEMIA, TYPE ID
OMIM	615961	ACID-LABILE SUBUNIT DEFICIENCY; ACLSD
OMIM	616034	2,4-DIENOYL-CoA REDUCTASE DEFICIENCY; DECRD
OMIM	616037	CILIARY DYSKINESIA, PRIMARY, 30; CILD30
OMIM	616067	46,XY SEX REVERSAL 9; SRXY9
OMIM	616108	RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME; RDJCSS
OMIM	616117	CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY; CCDD
OMIM	616202	CEREBELLOFACIODENTAL SYNDROME
OMIM	616229	OSTEOGENESIS IMPERFECTA, TYPE XVI; OI16
OMIM	616266	CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
OMIM	616289	OPTIC ATROPHY 9; OPA9
OMIM	616362	MENTAL RETARDATION, AUTOSOMAL DOMINANT 36; MRD36
OMIM	616367	MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA; MFDA
OMIM	616457	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50; EIEE50
OMIM	616468	EXUDATIVE VITREORETINOPATHY 6; EVR6
OMIM	616503	LETHAL CONGENITAL CONTRACTURE SYNDROME 9; LCCS9
OMIM	616562	RETINITIS PIGMENTOSA 74; RP74
OMIM	616730	NEPHROTIC SYNDROME, TYPE 11; NPHS11
OMIM	616737	TAKENOUCHI-KOSAKI SYNDROME; TKS
OMIM	616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2
OMIM	616818	IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3
OMIM	616859	SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA
OMIM	616897	OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE
OMIM	616900	HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3; IHPRF3
OMIM	617011	MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR
OMIM	617041	DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS; DURS3
OMIM	617171	DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
OMIM	617186	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1; PEBEL1
OMIM	617222	SUDDEN CARDIAC FAILURE, INFANTILE
OMIM	617223	SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED
OMIM	617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS
OMIM	617251	UNCOMBABLE HAIR SYNDROME 2
OMIM	617253	SECKEL SYNDROME 10; SCKL10
OMIM	617303	MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME; MPSPS
OMIM	617319	ANTERIOR SEGMENT DYSGENESIS 8
OMIM	617466	TOWNES-BROCKS SYNDROME 2; TBS2
OMIM	617480	46,XX SEX REVERSAL 4; SRXX4
OMIM	617602	CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME; CHDSKM
OMIM	617666	FRASER SYNDROME 2; FRASRS2
OMIM	617667	FRASER SYNDROME 3; FRASRS3
OMIM	617668	ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES; NELABA
OMIM	617751	MENTAL RETARDATION, AUTOSOMAL DOMINANT 48; MRD48
OMIM	617907	ERYTHROCYTOSIS, FAMILIAL, 5; ECYT5
OMIM	617925	SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY; SRTD20
OMIM	617927	OROFACIODIGITAL SYNDROME XVIII; OFD18
OMIM	618109	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65; MRT65
OMIM	618220	RETINITIS PIGMENTOSA 84; RP84
OMIM	618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION; VETD
OMIM	618234	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11; MC1DN11
OMIM	618272	GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR; GLOW
OMIM	618278	FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS; FINCA
OMIM	618280	CARDIAC-UROGENITAL SYNDROME; CUGS
OMIM	618283	VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI; VIPB
OMIM	618307	EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4; EV4
OMIM	618310	DIAMOND-BLACKFAN ANEMIA 18; DBA18
OMIM	618314	HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2; HOMGSMR2
OMIM	618348	GALLOWAY-MOWAT SYNDROME 7; GAMOS7
OMIM	618371	TURNPENNY-FRY SYNDROME; TPFS
OMIM	618400	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE; CMT2EE
OMIM	618419	GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY; GDRM
ORPHA	100050	Hereditary angioedema type 1
ORPHA	100075	Neuroendocrine tumor of stomach
ORPHA	100076	Duodenal neuroendocrine tumor
ORPHA	100077	Jejunal neuroendocrine tumor
ORPHA	100078	Ileal neuroendocrine tumor
ORPHA	100079	Neuroendocrine neoplasm of appendix
ORPHA	100084	Middle ear neuroendocrine tumor
ORPHA	100996	Autosomal recessive spastic paraplegia type 15
ORPHA	100997	X-linked spastic paraplegia type 16
ORPHA	100998	Autosomal dominant spastic paraplegia type 17
ORPHA	101003	Autosomal recessive spastic paraplegia type 23
ORPHA	101009	Autosomal dominant spastic paraplegia type 29
ORPHA	101016	Romano-Ward syndrome
ORPHA	101028	Transaldolase deficiency
ORPHA	101111	Spinocerebellar ataxia type 25
ORPHA	101112	Spinocerebellar ataxia type 26
ORPHA	104	Leber hereditary optic neuropathy
ORPHA	1051	Ramos-Arroyo syndrome
ORPHA	1055	Fetal left ventricular aneurysm
ORPHA	1071	Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
ORPHA	1106	Microphthalmia with limb anomalies
ORPHA	1150	Arthrogryposis multiplex congenita-whistling face syndrome
ORPHA	1164	Allergic bronchopulmonary aspergillosis
ORPHA	1166	Congenital unilateral hypoplasia of depressor anguli oris
ORPHA	117	Behçet disease
ORPHA	1180	Ataxia-hypogonadism-choroidal dystrophy syndrome
ORPHA	1192	Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
ORPHA	1193	Atkin-Flaitz syndrome
ORPHA	1199	Esophageal atresia
ORPHA	1227	Bangstad syndrome
ORPHA	1234	Bartsocas-Papas syndrome
ORPHA	1253	Ascher syndrome
ORPHA	1264	Tricho-retino-dento-digital syndrome
ORPHA	1292	Brachymorphism-onychodysplasia-dysphalangism syndrome
ORPHA	1299	Branchioskeletogenital syndrome
ORPHA	1319	Camptobrachydactyly
ORPHA	1326	Camptodactyly syndrome, Guadalajara type 2
ORPHA	1334	Chronic mucocutaneous candidiasis
ORPHA	1335	Pentalogy of Cantrell
ORPHA	1358	Carey-Fineman-Ziter syndrome
ORPHA	1359	Carney complex
ORPHA	136	CADASIL
ORPHA	137	Congenital disorder of glycosylation
ORPHA	137634	Overgrowth-macrocephaly-facial dysmorphism syndrome
ORPHA	137902	Isolated optic nerve hypoplasia/aplasia
ORPHA	137914	Choanal atresia
ORPHA	138	CHARGE syndrome
ORPHA	1394	Cerebrofaciothoracic dysplasia
ORPHA	139450	Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
ORPHA	139466	SERKAL syndrome
ORPHA	139578	Mutilating hereditary sensory neuropathy with spastic paraplegia
ORPHA	140286	Secondary hypoparathyroidism due to impaired parathormon secretion
ORPHA	140905	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency
ORPHA	140908	Brachydactyly type B2
ORPHA	140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome
ORPHA	140976	RHYNS syndrome
ORPHA	140989	Primary angiitis of the central nervous system
ORPHA	1410	Uncombable hair syndrome
ORPHA	141127	Congenital tracheal stenosis
ORPHA	141136	Otomandibular syndrome
ORPHA	141291	Cleft lip and alveolus
ORPHA	1426	Greenberg dysplasia
ORPHA	143	Parathyroid carcinoma
ORPHA	1435	Xq21 microdeletion syndrome
ORPHA	1439	Ring chromosome 12 syndrome
ORPHA	1446	Ring chromosome 22 syndrome
ORPHA	1449	Ring chromosome 7 syndrome
ORPHA	1451	CINCA syndrome
ORPHA	147	Carbamoyl-phosphate synthetase 1 deficiency
ORPHA	1475	Renal coloboma syndrome
ORPHA	1501	Adrenocortical carcinoma
ORPHA	1521	Craniofrontonasal dysplasia-Poland anomaly syndrome
ORPHA	1525	Cranio-osteoarthropathy
ORPHA	1529	Craniofacial-deafness-hand syndrome
ORPHA	1540	Jackson-Weiss syndrome
ORPHA	1546	Cryptococcosis
ORPHA	1549	Cryptosporidiosis
ORPHA	1556	Cutis marmorata telangiectatica congenita
ORPHA	1562	Dacryocystitis-osteopoikilosis syndrome
ORPHA	158000	Juvenile xanthogranuloma
ORPHA	158003	Xanthoma disseminatum
ORPHA	158008	Papular xanthoma
ORPHA	158029	Sea-blue histiocytosis
ORPHA	158684	Epidermolysis bullosa simplex with pyloric atresia
ORPHA	1600	Monosomy 18q
ORPHA	1606	1p36 deletion syndrome
ORPHA	1617	2q24 microdeletion syndrome
ORPHA	163654	Spondyloepiphyseal dysplasia, Cantu type
ORPHA	163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
ORPHA	163979	X-linked intellectual disability-craniofacioskeletal syndrome
ORPHA	1662	Restrictive dermopathy
ORPHA	1665	Sporadic fetal brain disruption sequence
ORPHA	168549	Axial spondylometaphyseal dysplasia
ORPHA	168569	H syndrome
ORPHA	169079	Cernunnos-XLF deficiency
ORPHA	169105	Good syndrome
ORPHA	169189	Autosomal dominant centronuclear myopathy
ORPHA	1692	Mosaic trisomy 1
ORPHA	170	Woolly hair
ORPHA	1707	Distal trisomy 15q
ORPHA	171430	Severe congenital nemaline myopathy
ORPHA	171439	Childhood-onset nemaline myopathy
ORPHA	171442	Adult-onset nemaline myopathy
ORPHA	172	Progressive familial intrahepatic cholestasis
ORPHA	1756	Caudal duplication
ORPHA	1772	45,X/46,XY mixed gonadal dysgenesis
ORPHA	178029	Central diabetes insipidus
ORPHA	1784	Acrofrontofacionasal dysostosis
ORPHA	1791	Frontofacionasal dysplasia
ORPHA	1797	Autosomal dominant spondylocostal dysostosis
ORPHA	182050	MYH9-related disease
ORPHA	1827	Acromelic frontonasal dysplasia
ORPHA	183	Eosinophilic granulomatosis with polyangiitis
ORPHA	1839	Hereditary mucoepithelial dysplasia
ORPHA	1848	Renal agenesis, bilateral
ORPHA	185	Scimitar syndrome
ORPHA	1875	Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
ORPHA	189439	Primary pigmented nodular adrenocortical disease
ORPHA	1895	Edinburgh malformation syndrome
ORPHA	1896	EEC syndrome
ORPHA	1899	Arthrochalasia Ehlers-Danlos syndrome
ORPHA	1901	Dermatosparaxis Ehlers-Danlos syndrome
ORPHA	192	Coffin-Lowry syndrome
ORPHA	193	Cohen syndrome
ORPHA	1934	Early infantile epileptic encephalopathy
ORPHA	1945	Rolandic epilepsy
ORPHA	1970	Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
ORPHA	1974	Autosomal recessive faciodigitogenital syndrome
ORPHA	199	Cornelia de Lange syndrome
ORPHA	199310	Tetragametic chimerism
ORPHA	199351	Adult-onset dystonia-parkinsonism
ORPHA	20	3-hydroxy-3-methylglutaric aciduria
ORPHA	201	Cowden syndrome
ORPHA	2028	Juvenile hyaline fibromatosis
ORPHA	2036	Scalp-ear-nipple syndrome
ORPHA	2038	Pulmonary arteriovenous malformation
ORPHA	2052	Fraser syndrome
ORPHA	2053	Freeman-Sheldon syndrome
ORPHA	2054	Osteochondritis of tarsal/metatarsal bone
ORPHA	2062	Progressive non-infectious anterior vertebral fusion
ORPHA	206484	Gonadoblastoma
ORPHA	2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
ORPHA	2073	Narcolepsy type 1
ORPHA	2086	Optic pathway glioma
ORPHA	209	Cutis laxa
ORPHA	2090	GMS syndrome
ORPHA	2092	Focal dermal hypoplasia
ORPHA	2097	Grant syndrome
ORPHA	209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
ORPHA	209905	Brain-lung-thyroid syndrome
ORPHA	209943	IRVAN syndrome
ORPHA	209951	Autosomal recessive spastic paraplegia type 18
ORPHA	210136	Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome
ORPHA	2108	Hallermann-Streiff syndrome
ORPHA	2123	Diffuse neonatal hemangiomatosis
ORPHA	2126	Solitary fibrous tumour/hemangiopericytoma
ORPHA	2136	Hennekam syndrome
ORPHA	2138	46,XX ovotesticular disorder of sex development
ORPHA	2141	Diaphragmatic defect-limb deficiency-skull defect syndrome
ORPHA	2145	Craniosynostosis, Herrmann-Opitz type
ORPHA	216694	Congenitally corrected transposition of the great arteries
ORPHA	217017	Zechi-Ceide syndrome
ORPHA	2176	Infantile systemic hyalinosis
ORPHA	2196	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
ORPHA	2200	Focal palmoplantar and gingival keratoderma
ORPHA	220460	Attenuated familial adenomatous polyposis
ORPHA	221	Dermatomyositis
ORPHA	221091	Trigeminal neuralgia
ORPHA	2215	Multiple pterygium-malignant hyperthermia syndrome
ORPHA	2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome
ORPHA	2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome
ORPHA	2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
ORPHA	225147	Sporadic infantile bilateral striatal necrosis
ORPHA	2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
ORPHA	226313	Congenital hypothyroidism due to maternal intake of antithyroid drugs
ORPHA	227510	Multiple system atrophy, cerebellar type
ORPHA	227982	Autoimmune polyendocrinopathy type 3
ORPHA	227990	Autoimmune polyendocrinopathy type 4
ORPHA	228240	Elastoderma
ORPHA	228312	Autoimmune hemolytic anemia, cold type
ORPHA	228396	Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
ORPHA	228402	2q23.1 microdeletion syndrome
ORPHA	2298	Insulin-resistance syndrome type B
ORPHA	230	Dopamine beta-hydroxylase deficiency
ORPHA	2306	Isotretinoin-like syndrome
ORPHA	231169	Usher syndrome type 1
ORPHA	231183	Usher syndrome type 3
ORPHA	2314	Autosomal dominant hyper-IgE syndrome
ORPHA	2315	Johanson-Blizzard syndrome
ORPHA	2324	Osteopenia-intellectual disability-sparse hair syndrome
ORPHA	2386	Leukoencephalopathy-palmoplantar keratoderma syndrome
ORPHA	240071	Classic progressive supranuclear palsy syndrome
ORPHA	240085	Progressive supranuclear palsy-parkinsonism syndrome
ORPHA	2409	Lowry-MacLean syndrome
ORPHA	2430	Congenital macroglossia
ORPHA	244310	RFT1-CDG
ORPHA	245	Nager syndrome
ORPHA	2457	Mandibuloacral dysplasia
ORPHA	2461	Marden-Walker syndrome
ORPHA	2463	Marfanoid habitus-autosomal recessive intellectual disability syndrome
ORPHA	2467	Systemic mastocytosis
ORPHA	247257	Inhalational anthrax
ORPHA	247262	Hyperphosphatasia-intellectual disability syndrome
ORPHA	2473	McKusick-Kaufman syndrome
ORPHA	247525	Citrullinemia type I
ORPHA	247598	Neonatal intrahepatic cholestasis due to citrin deficiency
ORPHA	247604	Juvenile primary lateral sclerosis
ORPHA	247768	Müllerian aplasia and hyperandrogenism
ORPHA	2495	Meningioma
ORPHA	2496	Mesomelia-synostoses syndrome
ORPHA	2502	Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
ORPHA	250977	AICA-ribosiduria
ORPHA	250999	1q41q42 microdeletion syndrome
ORPHA	251	Multiple epiphyseal dysplasia
ORPHA	2510	Micro syndrome
ORPHA	251004	Paternal uniparental disomy of chromosome 1
ORPHA	251046	6p22 microdeletion syndrome
ORPHA	251347	Ataxia-telangiectasia-like disorder
ORPHA	2514	Autosomal dominant primary microcephaly
ORPHA	251510	46,XY partial gonadal dysgenesis
ORPHA	251643	Myxopapillary ependymoma
ORPHA	251909	Pineoblastoma
ORPHA	251992	Ganglioneuroma
ORPHA	252164	Benign schwannoma
ORPHA	2526	Microcephaly-lymphedema-chorioretinopathy syndrome
ORPHA	254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
ORPHA	254519	Kagami-Ogata syndrome
ORPHA	2547	Microphthalmia-microtia-fetal akinesia syndrome
ORPHA	254886	Autosomal recessive progressive external ophthalmoplegia
ORPHA	254892	Autosomal dominant progressive external ophthalmoplegia
ORPHA	2552	Microsporidiosis
ORPHA	255210	Mitochondrial DNA-associated Leigh syndrome
ORPHA	2554	Ear-patella-short stature syndrome
ORPHA	2556	Microphthalmia with linear skin defects syndrome
ORPHA	2560	Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
ORPHA	2571	X-linked immunoneurologic disorder
ORPHA	2575	Cystic fibrosis-gastritis-megaloblastic anemia syndrome
ORPHA	2585	Ataxia-pancytopenia syndrome
ORPHA	2591	Infantile myofibromatosis
ORPHA	26	Methylmalonic acidemia with homocystinuria
ORPHA	2601	Myopathy-growth delay-intellectual disability-hypospadias syndrome
ORPHA	2604	Familial visceral myopathy
ORPHA	2611	Linear verrucous nevus syndrome
ORPHA	261112	Monosomy 9p
ORPHA	261265	17q12 microdeletion syndrome
ORPHA	261311	20q13.33 microdeletion syndrome
ORPHA	261323	21q22.11q22.12 microdeletion syndrome
ORPHA	261584	Familial adenomatous polyposis due to 5q22.2 microdeletion
ORPHA	261911	Partial deletion of the short arm of chromosome 7
ORPHA	263487	COG5-CDG
ORPHA	263516	Progressive myoclonic epilepsy type 3
ORPHA	264450	Trisomy 8p
ORPHA	2671	Neu-Laxova syndrome
ORPHA	26791	Multiple acyl-CoA dehydrogenase deficiency
ORPHA	2686	Cyclic neutropenia
ORPHA	268882	Arnold-Chiari malformation type I
ORPHA	268943	Unilateral polymicrogyria
ORPHA	2704	Ochoa syndrome
ORPHA	2707	Oculocerebrofacial syndrome, Kaufman type
ORPHA	2710	Oculodentodigital dysplasia
ORPHA	2714	Oculo-palato-cerebral syndrome
ORPHA	2717	Oculotrichoanal syndrome
ORPHA	2728	Blepharophimosis-intellectual disability syndrome, Ohdo type
ORPHA	2729	Okamoto syndrome
ORPHA	2736	Lethal omphalocele-cleft palate syndrome
ORPHA	2749	Oromandibular-limb hypogenesis syndrome
ORPHA	2751	Orofaciodigital syndrome type 2
ORPHA	2753	Orofaciodigital syndrome type 4
ORPHA	2756	Orofaciodigital syndrome type 10
ORPHA	275766	Idiopathic pulmonary arterial hypertension
ORPHA	275864	Behavioral variant of frontotemporal dementia
ORPHA	2762	Progressive osseous heteroplasia
ORPHA	276238	Machado-Joseph disease type 1
ORPHA	276241	Machado-Joseph disease type 2
ORPHA	276244	Machado-Joseph disease type 3
ORPHA	276621	Sporadic pheochromocytoma/secreting paraganglioma
ORPHA	2770	Nasu-Hakola disease
ORPHA	2774	Multicentric carpo-tarsal osteolysis with or without nephropathy
ORPHA	2786	Osteoporosis-oculocutaneous hypopigmentation syndrome
ORPHA	2791	Otodental syndrome
ORPHA	2795	Polycystic ovaries-urethral sphincter dysfunction syndrome
ORPHA	280062	Calciphylaxis
ORPHA	280356	PLIN1-related familial partial lipodystrophy
ORPHA	280365	Autosomal semi-dominant severe lipodystrophic laminopathy
ORPHA	2804	W syndrome
ORPHA	280633	Multiple congenital anomalies-hypotonia-seizures syndrome
ORPHA	2828	Young-onset Parkinson disease
ORPHA	2834	Wrinkly skin syndrome
ORPHA	2836	PEHO syndrome
ORPHA	284180	Xp22.13p22.2 duplication syndrome
ORPHA	284227	TEMPI syndrome
ORPHA	284271	Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
ORPHA	284289	Adult-onset autosomal recessive cerebellar ataxia
ORPHA	284417	Phosphoserine aminotransferase deficiency
ORPHA	284979	Neonatal Marfan syndrome
ORPHA	284984	Aneurysm-osteoarthritis syndrome
ORPHA	286	Vascular Ehlers-Danlos syndrome
ORPHA	287	Classical Ehlers-Danlos syndrome
ORPHA	2886	TARP syndrome
ORPHA	289	Ellis Van Creveld syndrome
ORPHA	289157	Hypocalcemic vitamin D-dependent rickets
ORPHA	289596	Juvenile nasopharyngeal angiofibroma
ORPHA	2896	Pitt-Hopkins syndrome
ORPHA	289601	Hereditary arterial and articular multiple calcification syndrome
ORPHA	2897	Pityriasis rubra pilaris
ORPHA	2907	Hereditary acrokeratotic poikiloderma
ORPHA	29072	Hereditary pheochromocytoma-paraganglioma
ORPHA	29073	Multiple myeloma
ORPHA	2908	Kindler syndrome
ORPHA	2909	Rothmund-Thomson syndrome
ORPHA	2911	Poland syndrome
ORPHA	292	Congenital enterovirus infection
ORPHA	2926	Digital extensor muscle aplasia-polyneuropathy
ORPHA	2930	Cronkhite-Canada syndrome
ORPHA	293168	Infantile-onset ascending hereditary spastic paralysis
ORPHA	293725	Blepharophimosis-intellectual disability syndrome, Verloes type
ORPHA	293848	Frontotemporal dementia, right temporal atrophy variant
ORPHA	293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy
ORPHA	293987	Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
ORPHA	2958	X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
ORPHA	2959	Progeria-short stature-pigmented nevi syndrome
ORPHA	2962	De Barsy syndrome
ORPHA	2965	Prolactinoma
ORPHA	2969	Proteus-like syndrome
ORPHA	2975	46,XX disorder of sex development-skeletal anomalies syndrome
ORPHA	298	Mitochondrial neurogastrointestinal encephalomyopathy
ORPHA	2980	Acrootoocular syndrome
ORPHA	2985	Pseudoprogeria syndrome
ORPHA	2990	Autosomal recessive multiple pterygium syndrome
ORPHA	300373	X-linked acrogigantism
ORPHA	300536	DDOST-CDG
ORPHA	300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
ORPHA	300605	Juvenile amyotrophic lateral sclerosis
ORPHA	303	Dystrophic epidermolysis bullosa
ORPHA	30391	Isolated biliary atresia
ORPHA	306674	Kufor-Rakeb syndrome
ORPHA	306682	Manganese poisoning
ORPHA	306731	Sydenham chorea
ORPHA	306741	Hemidystonia-hemiatrophy syndrome
ORPHA	3071	Costello syndrome
ORPHA	3082	Intellectual disability-polydactyly-uncombable hair syndrome
ORPHA	309246	GM2 gangliosidosis, AB variant
ORPHA	309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
ORPHA	31	Oxoglutaric aciduria
ORPHA	3107	Autosomal dominant Robinow syndrome
ORPHA	3132	Say-Barber-Miller syndrome
ORPHA	313855	FGFR2-related bent bone dysplasia
ORPHA	314389	Xq12-q13.3 duplication syndrome
ORPHA	3144	Schneckenbecken dysplasia
ORPHA	314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
ORPHA	314585	15q overgrowth syndrome
ORPHA	3151	Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
ORPHA	3163	SHORT syndrome
ORPHA	3168	Sillence syndrome
ORPHA	319199	Autosomal recessive spastic paraplegia type 53
ORPHA	319251	Rift valley fever
ORPHA	3198	Stiff person syndrome and related disorders
ORPHA	32	Glutathione synthetase deficiency
ORPHA	320	Apparent mineralocorticoid excess
ORPHA	3201	Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome
ORPHA	3203	Overhydrated hereditary stomatocytosis
ORPHA	3204	Stormorken-Sjaastad-Langslet syndrome
ORPHA	3205	Sturge-Weber syndrome
ORPHA	3206	Stüve-Wiedemann syndrome
ORPHA	321	Multiple osteochondromas
ORPHA	3232	Deafness-ear malformation-facial palsy syndrome
ORPHA	324	Fabry disease
ORPHA	324540	Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
ORPHA	324588	Familial dyskinesia and facial myokymia
ORPHA	3246	Symphalangism with multiple anomalies of hands and feet
ORPHA	325124	Testicular agenesis
ORPHA	325345	46,XY ovotesticular disorder of sex development
ORPHA	3260	Idiopathic hypereosinophilic syndrome
ORPHA	329	Congenital factor XI deficiency
ORPHA	329252	Spondylocostal dysostosis-hypospadias-intellectual disability syndrome
ORPHA	329284	Beta-propeller protein-associated neurodegeneration
ORPHA	329478	Adult-onset distal myopathy due to VCP mutation
ORPHA	32960	Tumor necrosis factor receptor 1 associated periodic syndrome
ORPHA	329971	Generalized juvenile polyposis/juvenile polyposis coli
ORPHA	330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
ORPHA	3310	Tetrasomy 9p
ORPHA	3322	Hoyeraal-Hreidarsson syndrome
ORPHA	33276	Kaposi sarcoma
ORPHA	33364	Trichothiodystrophy
ORPHA	3339	Toriello-Lacassie-Droste syndrome
ORPHA	3342	Arterial tortuosity syndrome
ORPHA	3352	Tricho-dento-osseous syndrome
ORPHA	3369	Trigonocephaly-short stature-developmental delay syndrome
ORPHA	3378	Trisomy 13
ORPHA	3379	Distal trisomy 17q
ORPHA	3389	Tuberculosis
ORPHA	340	Hemorrhagic fever-renal syndrome
ORPHA	3404	Ulbright-Hodes syndrome
ORPHA	342	Familial Mediterranean fever
ORPHA	3429	Verloove Vanhorick-Brubakk syndrome
ORPHA	3440	Waardenburg syndrome
ORPHA	3447	Weaver syndrome
ORPHA	3455	Wiedemann-Rautenstrauch syndrome
ORPHA	3456	Wildervanck syndrome
ORPHA	346	Quinquaud's folliculitis decalvans
ORPHA	3469	XK aprosencephaly syndrome
ORPHA	3472	Yunis-Varon syndrome
ORPHA	3473	Zimmermann-Laband syndrome
ORPHA	35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency
ORPHA	352582	Familial infantile myoclonic epilepsy
ORPHA	352596	Progressive myoclonic epilepsy with dystonia
ORPHA	354	GM1 gangliosidosis
ORPHA	355	Gaucher disease
ORPHA	35612	Nanophthalmos
ORPHA	35687	Erdheim-Chester disease
ORPHA	35689	Primary lateral sclerosis
ORPHA	358	Gitelman syndrome
ORPHA	363417	Temtamy preaxial brachydactyly syndrome
ORPHA	363429	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
ORPHA	363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
ORPHA	363710	Spinocerebellar ataxia type 37
ORPHA	364028	X-linked intellectual disability due to GRIA3 mutations
ORPHA	36426	Stevens-Johnson syndrome
ORPHA	37	Acrodermatitis enteropathica
ORPHA	370348	Peripheral primitive neuroectodermal tumor
ORPHA	370930	XYLT1-CDG
ORPHA	370959	Congenital muscular dystrophy with cerebellar involvement
ORPHA	371428	Multicentric osteolysis-nodulosis-arthropathy spectrum
ORPHA	37202	Interstitial cystitis
ORPHA	374	Goldenhar syndrome
ORPHA	381	Griscelli syndrome
ORPHA	39044	Uveal melanoma
ORPHA	391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
ORPHA	391665	Homozygous familial hypercholesterolemia
ORPHA	396	Chronic hiccup
ORPHA	397	Giant cell arteritis
ORPHA	397685	Familial hyperprolactinemia
ORPHA	397695	3q27.3 microdeletion syndrome
ORPHA	397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
ORPHA	39812	Graft versus host disease
ORPHA	398173	Focal facial dermal dysplasia type II
ORPHA	399081	KLHL9-related early-onset distal myopathy
ORPHA	401815	Autosomal recessive spastic paraplegia type 66
ORPHA	401942	Familial median cleft of the upper and lower lips
ORPHA	401973	MEND syndrome
ORPHA	40366	Acitretin/etretinate embryopathy
ORPHA	404448	ADNP syndrome
ORPHA	404454	Alacrimia-choreoathetosis-liver dysfunction syndrome
ORPHA	407	Glycine encephalopathy
ORPHA	411593	Insulin autoimmune syndrome
ORPHA	411629	Nephropathic infantile cystinosis
ORPHA	411709	Renal agenesis
ORPHA	412	Dysbetalipoproteinemia
ORPHA	412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency
ORPHA	415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
ORPHA	423	Malignant hyperthermia of anesthesia
ORPHA	423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
ORPHA	42642	PFAPA syndrome
ORPHA	427	Familial hypoaldosteronism
ORPHA	42775	PHACE syndrome
ORPHA	431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency
ORPHA	432	Normosmic congenital hypogonadotropic hypogonadism
ORPHA	435628	Keppen-Lubinsky syndrome
ORPHA	435660	LIPE-related familial partial lipodystrophy
ORPHA	436	Hypophosphatasia
ORPHA	436003	Contractures-developmental delay-Pierre Robin syndrome
ORPHA	437572	MYH7-related late-onset scapuloperoneal muscular dystrophy
ORPHA	439167	Placental insufficiency
ORPHA	439218	KCNQ2-related epileptic encephalopathy
ORPHA	440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
ORPHA	442	Congenital hypothyroidism
ORPHA	443811	PGM3-CDG
ORPHA	444002	11q22.2q22.3 microdeletion syndrome
ORPHA	444490	Familial chylomicronemia syndrome
ORPHA	447	Paroxysmal nocturnal hemoglobinuria
ORPHA	447896	Tremor-ataxia-central hypomyelination syndrome
ORPHA	45453	Incessant infant ventricular tachycardia
ORPHA	454887	Corticobasal syndrome
ORPHA	456328	X-linked myotubular myopathy-abnormal genitalia syndrome
ORPHA	457059	Pseudohypoparathyroidism with Albright hereditary osteodystrophy
ORPHA	459033	Ataxia-oculomotor apraxia type 4
ORPHA	464	Incontinentia pigmenti
ORPHA	464329	Kaposiform lymphangiomatosis
ORPHA	466722	Autosomal recessive spastic paraplegia type 77
ORPHA	469	Hereditary fructose intolerance
ORPHA	470	Lysinuric protein intolerance
ORPHA	476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
ORPHA	480	Kearns-Sayre syndrome
ORPHA	480536	MSH3-related attenuated familial adenomatous polyposis
ORPHA	480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
ORPHA	482601	Adenylosuccinate synthetase-like 1-related distal myopathy
ORPHA	485	Kniest dysplasia
ORPHA	488594	Autosomal recessive spastic paraplegia type 76
ORPHA	49	Penile agenesis
ORPHA	494	Keratoderma hereditarium mutilans
ORPHA	50	Aicardi syndrome
ORPHA	500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
ORPHA	501	Lafora disease
ORPHA	508488	8q24.3 microdeletion syndrome
ORPHA	509	Leptospirosis
ORPHA	50944	Schöpf-Schulz-Passarge syndrome
ORPHA	50945	Blomstrand lethal chondrodysplasia
ORPHA	51	Aicardi-Goutières syndrome
ORPHA	513436	Autosomal recessive spastic paraplegia type 78
ORPHA	514	Acute monoblastic leukemia
ORPHA	51636	WHIM syndrome
ORPHA	517	Acute myelomonocytic leukemia
ORPHA	521	Chronic myeloid leukemia
ORPHA	521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
ORPHA	523	Hereditary leiomyomatosis and renal cell cancer
ORPHA	52368	Mohr-Tranebjaerg syndrome
ORPHA	52427	Retinitis punctata albescens
ORPHA	52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
ORPHA	525731	Pediatric-onset Graves disease
ORPHA	528	Berardinelli-Seip congenital lipodystrophy
ORPHA	52901	Isolated follicle stimulating hormone deficiency
ORPHA	529799	Acute bilirubin encephalopathy
ORPHA	529808	Chronic bilirubin encephalopathy
ORPHA	529962	17q24.2 microdeletion syndrome
ORPHA	529965	Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome
ORPHA	53	Albers-Schönberg osteopetrosis
ORPHA	530	Lipoid proteinosis
ORPHA	531	Miller-Dieker syndrome
ORPHA	534	Oculocerebrorenal syndrome of Lowe
ORPHA	53697	Gnathodiaphyseal dysplasia
ORPHA	537	Toxic epidermal necrolysis
ORPHA	53721	Spinal arteriovenous metameric syndrome
ORPHA	54251	Corticosteroid-sensitive aseptic abscess syndrome
ORPHA	543	Burkitt lymphoma
ORPHA	54370	Primary membranoproliferative glomerulonephritis
ORPHA	54595	Craniopharyngioma
ORPHA	550	MELAS
ORPHA	556	Malakoplakia
ORPHA	558	Marfan syndrome
ORPHA	559	Marinesco-Sjögren syndrome
ORPHA	56	Alkaptonuria
ORPHA	56304	Atelosteogenesis type II
ORPHA	56305	Atelosteogenesis type III
ORPHA	564	Meckel syndrome
ORPHA	567	22q11.2 deletion syndrome
ORPHA	572	Immunodeficiency by defective expression of MHC class II
ORPHA	573	Monilethrix
ORPHA	575	Muckle-Wells syndrome
ORPHA	582	Mucopolysaccharidosis type 4
ORPHA	589	Myasthenia gravis
ORPHA	59135	Laing early-onset distal myopathy
ORPHA	600	Vocal cord and pharyngeal distal myopathy
ORPHA	602	GNE myopathy
ORPHA	617	Congenital primary megaureter
ORPHA	622	Homocystinuria without methylmalonic aciduria
ORPHA	63446	Acrocapitofemoral dysplasia
ORPHA	64	Alström syndrome
ORPHA	644	NARP syndrome
ORPHA	64752	Hereditary sensory and autonomic neuropathy type 5
ORPHA	64755	Becker nevus syndrome
ORPHA	649	Norrie disease
ORPHA	65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
ORPHA	65759	Carpenter syndrome
ORPHA	659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
ORPHA	66518	Short fifth metacarpals-insulin resistance syndrome
ORPHA	66624	PANDAS
ORPHA	66627	Pigmented villonodular synovitis
ORPHA	67036	Autosomal dominant optic atrophy and cataract
ORPHA	67043	Amoebic keratitis
ORPHA	67048	3-methylglutaconic aciduria type 4
ORPHA	672	Pallister-Hall syndrome
ORPHA	673	Malaria
ORPHA	678	Papillon-Lefèvre syndrome
ORPHA	679	Malignant atrophic papulosis
ORPHA	681	Hypokalemic periodic paralysis
ORPHA	683	Progressive supranuclear palsy
ORPHA	69085	Limb-mammary syndrome
ORPHA	69744	Circumscribed palmoplantar hypokeratosis
ORPHA	701	Alopecia universalis
ORPHA	704	Pemphigus vulgaris
ORPHA	70476	Vernal keratoconjunctivitis
ORPHA	70578	Adult acute respiratory distress syndrome
ORPHA	70591	Chronic thromboembolic pulmonary hypertension
ORPHA	71211	Neuromyelitis optica
ORPHA	71277	Classic glucose transporter type 1 deficiency syndrome
ORPHA	722	Hypoplasminogenemia
ORPHA	724	Idiopathic acute eosinophilic pneumonia
ORPHA	73223	Global developmental delay-osteopenia-ectodermal defect syndrome
ORPHA	73224	Tubular renal disease-cardiomyopathy syndrome
ORPHA	73267	Non-24-hour sleep-wake syndrome
ORPHA	740	Hutchinson-Gilford progeria syndrome
ORPHA	742	Prolidase deficiency
ORPHA	745	Severe hereditary thrombophilia due to congenital protein C deficiency
ORPHA	747	Autoimmune pulmonary alveolar proteinosis
ORPHA	752	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
ORPHA	75373	Progressive bifocal chorioretinal atrophy
ORPHA	755	Leydig cell hypoplasia
ORPHA	75564	Acquired idiopathic sideroblastic anemia
ORPHA	758	Pseudoxanthoma elasticum
ORPHA	75857	6q terminal deletion syndrome
ORPHA	767	Polyarteritis nodosa
ORPHA	77259	Gaucher disease type 1
ORPHA	77261	Gaucher disease type 3
ORPHA	778	Rett syndrome
ORPHA	790	Retinoblastoma
ORPHA	79083	PPARG-related familial partial lipodystrophy
ORPHA	79086	Acquired generalized lipodystrophy
ORPHA	79096	Pyridoxal phosphate-responsive seizures
ORPHA	79102	Thyrotoxic periodic paralysis
ORPHA	79106	Eiken syndrome
ORPHA	79136	Episodic ataxia type 4
ORPHA	79147	Familial reactive perforating collagenosis
ORPHA	79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency
ORPHA	79234	Crigler-Najjar syndrome type 1
ORPHA	79239	Classic galactosemia
ORPHA	79241	Biotinidase deficiency
ORPHA	79242	Holocarboxylase synthetase deficiency
ORPHA	79262	Adult neuronal ceroid lipofuscinosis
ORPHA	79273	Hereditary coproporphyria
ORPHA	79277	Congenital erythropoietic porphyria
ORPHA	79280	Alpha-N-acetylgalactosaminidase deficiency type 2
ORPHA	79282	Methylmalonic acidemia with homocystinuria, type cblC
ORPHA	79283	Methylmalonic acidemia with homocystinuria, type cblD
ORPHA	79284	Methylmalonic acidemia with homocystinuria type cblF
ORPHA	79318	PMM2-CDG
ORPHA	79403	Junctional epidermolysis bullosa-pyloric atresia syndrome
ORPHA	79404	Junctional epidermolysis bullosa, generalized severe
ORPHA	79430	Hermansky-Pudlak syndrome
ORPHA	79452	Milroy disease
ORPHA	79474	Atypical Werner syndrome
ORPHA	79500	DOORS syndrome
ORPHA	797	Sarcoidosis
ORPHA	798	Schinzel-Giedion syndrome
ORPHA	8	47,XYY syndrome
ORPHA	800	Schwartz-Jampel syndrome
ORPHA	801	Scleroderma
ORPHA	818	Smith-Lemli-Opitz syndrome
ORPHA	820	Sneddon syndrome
ORPHA	822	Hereditary spherocytosis
ORPHA	824	Primary myelofibrosis
ORPHA	827	Stargardt disease
ORPHA	83468	Solitary bone cyst
ORPHA	83628	LUMBAR syndrome
ORPHA	84064	Syndromic diarrhea
ORPHA	84090	Fibronectin glomerulopathy
ORPHA	848	Beta-thalassemia
ORPHA	85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
ORPHA	85184	Craniometadiaphyseal dysplasia, wormian bone type
ORPHA	85202	Keutel syndrome
ORPHA	85276	X-linked intellectual disability, Armfield type
ORPHA	85278	Christianson syndrome
ORPHA	85279	Syndromic X-linked intellectual disability due to JARID1C mutation
ORPHA	85290	X-linked intellectual disability, Wilson type
ORPHA	85410	Oligoarticular juvenile idiopathic arthritis
ORPHA	85436	Psoriasis-related juvenile idiopathic arthritis
ORPHA	85445	AA amyloidosis
ORPHA	85446	Wild type ABeta2M amyloidosis
ORPHA	85448	AGel amyloidosis
ORPHA	859	Transcobalamin deficiency
ORPHA	861	Treacher-Collins syndrome
ORPHA	86839	Refractory anemia with excess blasts
ORPHA	869	Triple A syndrome
ORPHA	86909	Myoclonic epilepsy of infancy
ORPHA	881	Turner syndrome
ORPHA	88618	Psychomotor delay due to S-adenosylhomocysteine hydrolase deficiency
ORPHA	88628	Posterior column ataxia-retinitis pigmentosa syndrome
ORPHA	88673	Hepatocellular carcinoma
ORPHA	888	Van der Woude syndrome
ORPHA	889	Cutaneous small vessel vasculitis
ORPHA	897	Waardenburg-Shah syndrome
ORPHA	89840	Junctional epidermolysis bullosa, non-Herlitz type
ORPHA	899	Walker-Warburg syndrome
ORPHA	89936	X-linked hypophosphatemia
ORPHA	89937	Autosomal dominant hypophosphatemic rickets
ORPHA	900	Granulomatosis with polyangiitis
ORPHA	90026	Primary erythromelalgia
ORPHA	90038	Shiga toxin-associated hemolytic uremic syndrome
ORPHA	90050	Retinopathy of prematurity
ORPHA	90153	Mandibuloacral dysplasia with type A lipodystrophy
ORPHA	90154	Mandibuloacral dysplasia with type B lipodystrophy
ORPHA	90289	Localized scleroderma
ORPHA	90290	CREST syndrome
ORPHA	90291	Systemic sclerosis
ORPHA	90340	Blau syndrome
ORPHA	90354	Brittle cornea syndrome
ORPHA	904	Williams syndrome
ORPHA	906	Wiskott-Aldrich syndrome
ORPHA	90646	Deafness-hypogonadism syndrome
ORPHA	90650	Otopalatodigital syndrome type 1
ORPHA	90695	Panhypopituitarism
ORPHA	90790	Congenital lipoid adrenal hyperplasia due to STAR deficency
ORPHA	90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
ORPHA	90794	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
ORPHA	90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
ORPHA	91	Aromatase deficiency
ORPHA	912	Zellweger syndrome
ORPHA	91347	TSH-secreting pituitary adenoma
ORPHA	91348	Functioning gonadotropic adenoma
ORPHA	91349	Non-functioning pituitary adenoma
ORPHA	91351	Pituitary dermoid and epidermoid cysts
ORPHA	91387	Familial thoracic aortic aneurysm and aortic dissection
ORPHA	920	Ablepharon macrostomia syndrome
ORPHA	927	Hyperammonemia due to N-acetylglutamate synthase deficiency
ORPHA	93317	Spondylometaphyseal dysplasia, Sedaghatian type
ORPHA	93388	Brachydactyly type A1
ORPHA	93405	Syndactyly type 4
ORPHA	93406	Syndactyly type 5
ORPHA	93929	Cloacal exstrophy
ORPHA	93930	Bladder exstrophy
ORPHA	93958	Oromandibular dystonia
ORPHA	94080	Non-functioning paraganglioma
ORPHA	94095	Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome
ORPHA	95427	Secondary short bowel syndrome
ORPHA	95428	COG8-CDG
ORPHA	95455	Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum
ORPHA	95494	Combined pituitary hormone deficiencies, genetic forms
ORPHA	95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
ORPHA	96121	7q11.23 microduplication syndrome
ORPHA	96123	Monosomy 22
ORPHA	96164	Non-distal monosomy 20q
ORPHA	96176	Ring chromosome 13 syndrome
ORPHA	96191	Paternal uniparental disomy of chromosome 6
ORPHA	96369	Early-onset schizophrenia
ORPHA	970	Hereditary sensory and autonomic neuropathy type 2
ORPHA	97214	Eisenmenger syndrome
ORPHA	97230	Solar urticaria
ORPHA	97231	Ligneous conjunctivitis
ORPHA	97279	Insulinoma
ORPHA	97287	Bronchial neuroendocrine tumor
ORPHA	97355	Caribbean parkinsonism
ORPHA	977	Adrenomyodystrophy
ORPHA	98028	Rare circulatory system disease
ORPHA	983	Testicular regression syndrome
ORPHA	98375	Autoimmune hemolytic anemia
ORPHA	98428	Secondary polycythemia
ORPHA	98756	Spinocerebellar ataxia type 2
ORPHA	98760	Spinocerebellar ataxia type 8
ORPHA	98764	Spinocerebellar ataxia type 27
ORPHA	98805	Primary dystonia, DYT4 type
ORPHA	98907	Neutral lipid storage disease with ichthyosis
ORPHA	98969	Macular corneal dystrophy
ORPHA	98977	Juvenile glaucoma
ORPHA	99125	Congenital total pulmonary venous return anomaly
ORPHA	99147	Acquired von Willebrand syndrome
ORPHA	99226	Monosomy X
ORPHA	99228	Mosaic monosomy X
ORPHA	99330	49,XYYYY syndrome
ORPHA	99413	Turner syndrome due to structural X chromosome anomalies
ORPHA	99429	Complete androgen insensitivity syndrome
ORPHA	99812	LIG4 syndrome
ORPHA	99818	Turcot syndrome with polyposis
ORPHA	99852	Ravine syndrome
ORPHA	99857	Secondary syringomyelia
ORPHA	99870	Letterer-Siwe disease
ORPHA	99880	Hyperparathyroidism-jaw tumor syndrome
ORPHA	99885	Permanent neonatal diabetes mellitus
ORPHA	99900	Long chain acyl-CoA dehydrogenase deficiency
ORPHA	99901	Acyl-CoA dehydrogenase 9 deficiency
ORPHA	99921	Chronic graft versus host disease
ORPHA	99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2
